AiPD: Autoinhibited Protein Database

P78363

Gene name	ABCA4
Protein name	Retinal-specific phospholipid-transporting ATPase ABCA4
Names	ATP-binding cassette sub-family A member 4, RIM ABC transporter, RIM proteinv, RmP, Retinal-specific ATP-binding cassette transporter, Stargardt disease protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:24
EC number	7.6.2.1: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

863-943 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

863-943 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

9 structures for P78363

Entry ID	Method	Resolution	Chain	Position	Source
7E7I	EM	330 A	A	1-2273	PDB
7E7O	EM	340 A	A	1-2273	PDB
7E7Q	EM	330 A	A	1-2273	PDB
7LKP	EM	327 A	A	1-2273	PDB
7LKZ	EM	327 A	A	1-2273	PDB
7M1P	EM	360 A	A	1-2273	PDB
7M1Q	EM	292 A	A	1-2273	PDB
8F5B	EM	395 A	A	1-2273	PDB
AF-P78363-F1	Predicted				AlphaFoldDB

2696 variants for P78363

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs201738997 RCV000408532 RCV001002805 RCV000408483 RCV001814056 RCV000085454	1	M>V	Severe early-childhood-onset retinal dystrophy Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
RCV001074134 CA227106 RCV002247489 VAR_012493 RCV000085568 RCV000779010 RCV001723665 RCV002051808 rs62645946	11	L>P	Retinitis pigmentosa ABCA4-Related Disorders Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa (rp) FFM [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs761209432 CA26845230 RCV000986377	12	W>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_012494	13	K>del	STGD1 [UniProt]	Yes	UniProt
RCV001280943 rs1662935816	14	N>missing	Generalized choriocapillaris dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084833	14	N>K	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000408591 RCV000085658 CA227220 rs62645957 RCV001075348	15	W>*	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_084834 rs868543294 RCV001074656	18	R>P	Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
RCV000008356 rs121909205 RCV000085719 VAR_008398 CA227296 RCV001075717 RCV001353024	18	R>W	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA958970 rs770272033 RCV001233348 RCV001353021	21	Q>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_084835	21	Q>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA227447 RCV000085858 rs62645942 RCV001102140 COSM913476	24	R>C	Variant assessed as Somatic; 0.0 impact. ABCA4-Related Disorders endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000307479 RCV001074842 RCV000398727 RCV000313308 RCV000343691 rs62645958 VAR_008399 COSM254500 RCV000779009 CA227449 RCV000085859	24	R>H	Macular degeneration ABCA4-Related Disorders urinary_tract Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Retinal dystrophy Stargardt Disease, Recessive STGD1; unknown pathological significance [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000408508 rs886044719 CA10602458	29	L>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001067891 CA341286738 rs1191816747 RCV001074538	31	W>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000085373 rs62642569 RCV001074684	37	L>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000408553 rs61751410 CA226874 RCV000085379	41	W>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs143207212 RCV001102139 CA958924	47	P>L	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001075007 rs557725292 RCV001044124 CA958920	52	H>Q	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA958919 VAR_084836 rs764744217	53	E>missing	CORD3; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
VAR_084836 rs764744217	53	E>del	CORD3; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
RCV000085409 rs150774447 RCV000132585 CA226909	54	C>F	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002485454 RCV000408466 rs886044720 CA10602457	54	C>G	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000826094 rs150774447 CA226908 RCV000210980 VAR_008400 RCV000085408	54	C>Y	Severe early-childhood-onset retinal dystrophy Stargardt disease STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_084837	55	H>R	CORD3; unknown pathological significance [UniProt]	Yes	UniProt
rs1662606557 RCV001073241	56	F>I	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61748524 RCV000085418 VAR_012495 CA226920	58	N>K	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_012496	60	A>E	STGD1 [UniProt]	Yes	UniProt
rs61751411 CA226928 VAR_012497 RCV000085425	60	A>T	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001073359 rs55732384 CA226931 VAR_008492 RCV000408452 RCV000763051 RCV000085427	60	A>V	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000417747 CA16603771 RCV001075540 rs1057520211	62	P>L	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001352982 rs1355238974 CA341285594	62	P>S	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_084838	63	S>P	CORD3; unknown pathological significance [UniProt]	Yes	UniProt
RCV000132588 VAR_008401 RCV002490741 RCV000085451 rs62654395 RCV001074366 CA226964	65	G>E	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy STGD1 and CORD3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000626666 RCV000414796 VAR_012498 RCV000085457 RCV001198384 CA226972 rs62654397 RCV001074514	68	P>L	Age related macular degeneration 2 Peripheral neuropathy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001074756 VAR_012499 RCV000085456 RCV000408449 RCV000779008 CA226971 rs62654397	68	P>R	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000408521 CA10602454 rs886044722	69	W>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_012500 RCV001000882 RCV001353042 RCV000085464 RCV002466250 CA226983 rs61751412 RCV000787776	72	G>R	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease STGD1; does not affect intracellular vesicle localization; does not affect solubility; significantly reduces N-Ret-PE binding; drastically reduces basal ATPase activity with little or no all trans retinal stimulation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_084839	72	G>V	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000504688 RCV000085466 rs61748526 CA226985 VAR_008402	75	C>G	Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
VAR_012501 CA226991 RCV000085472 rs61748527	77	V>E	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA341285471 RCV001002848 rs1570433137	81	C>S	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001352948 rs1005271380 RCV001074519 RCV001059911 RCV002471023	84	S>missing	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_085009	89	E>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA341285401 rs1156558540 RCV001100158	92	G>E	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1553196583 RCV001861674 RCV000656498	96	N>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000986376 CA227042 VAR_008403 rs61748529 RCV000085515	96	N>D	Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs61748529 CA227041 VAR_008404 RCV000085514	96	N>H	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA10588305 rs886039297 VAR_084840 RCV000255898	96	N>K	Variant assessed as Somatic; impact. STGD1; unknown pathological significance [NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP
rs755691060 VAR_084841 CA958886	97	Y>C	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs145133167 RCV001075836 CA958885 RCV000254775	98	N>K	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs62645948 RCV000408568 RCV000085530	99	N>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA227065 RCV000085534 RCV001074423 rs61748530 VAR_012502	100	S>P	Retinal dystrophy STGD1; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000400700 RCV001100157 CA958865 RCV000377526 RCV000283229 RCV000347578 RCV000408482 RCV001520655 rs201150919	106	Y>F	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs765429911 CA958864 RCV000578767 RCV001376340 COSM1345010 VAR_084842 RCV001075053	107	R>missing	CORD3; unknown pathological significance Variant assessed as Somatic; 0.0 impact. large_intestine Severe early-childhood-onset retinal dystrophy Retinal dystrophy [UniProt, NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_084842 rs765429911	107	R>del	CORD3; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
VAR_084843	108	D>V	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs766512063 RCV000286803 RCV000341813 RCV000371873 CA958861 RCV000317261	111	E>Q	Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001199610 rs1662507319	116	A>missing	Cone-rod dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000416105 rs138359497 CA958855 RCV000764208	124	R>C	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001353005 rs1662504407 RCV001871908	143	P>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA227179 VAR_084844 RCV000085626 RCV001195926 rs62646860	143	P>L	Age related macular degeneration 2 STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV001860519 rs1012017728 RCV001002847 CA26891178	151	I>T	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002272126 rs62646861 CA227213 RCV001075709 RCV000085653 COSM465123 RCV000408527	152	R>*	kidney Cone-rod dystrophy 3 (cord3) Variant assessed as Somatic; 0.0 impact. Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy [Cosmic, Ensembl, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001100156 VAR_012503 RCV000408574 RCV000085654 CA227215 RCV000844929 rs62646862 RCV000402682	152	R>Q	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Stargardt disease STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_012504 CA227225 RCV000764207 RCV000622993 RCV000504910 RCV001100155 rs62646863 RCV000085663 RCV000626667	156	I>V	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Inborn genetic diseases STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001029826 rs747950242 RCV001873430	163	L>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1662328590 RCV001075022	163	L>R	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001449733 RCV001073775 rs61748532 VAR_084845 CA227276 RCV001353027 RCV001196794 RCV000085700	172	G>S	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001199621 rs1662327418	173	L>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
VAR_084846	184	S>F	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084847	184	S>R	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084848	185	Q>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000348853 rs886044148 RCV001073879	189	E>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000085753 rs281865397 CA227334 VAR_012505	190	Q>H	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002547063 CA958799 rs200696846 RCV001346506	191	F>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_008405 RCV000085759 rs61748535 CA227340 COSM175318	192	A>T	large_intestine STGD1 [Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM226452 rs185729337 RCV001873490 RCV001100153 CA958797	192	A>V	ABCA4-Related Disorders skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001074024 rs1206857720	195	V>L	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001098371 COSM293502 CA958789 rs145065936 RCV000349335	199	A>V	ABCA4-Related Disorders large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_012506 RCV000085793 RCV001074695 rs61748536 CA227374 RCV001098370 RCV000986375 RCV000391995	206	S>R	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; reduced basal and retinal-stimulated ATP-hydrolysis [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA341289668 RCV001074408 rs1246844424 RCV002554714 RCV002554713	210	L>Q	Retinal dystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000008355 CA203216 RCV000179293 RCV000787521 RCV000763050 RCV000085812 RCV001074780 rs61750200 VAR_008406	212	R>C	Cone-rod dystrophy 3 (cord3) Variant assessed as Somatic; 0.0 impact. Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity [Ensembl, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_012507 CA203214 RCV000369853 rs6657239 RCV000369400 RCV000085814 RCV000269487 RCV001098368 RCV000179292 RCV000315191	212	R>H	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001199627 rs1662213462	213	F>missing	Cone-rod dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084849	218	Q>del	CORD3; unknown pathological significance [UniProt]	Yes	UniProt
rs757557272 CA10588304 RCV001075801 RCV000255556	219	R>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001073757 RCV000408468 CA227418 rs61748537 RCV000085831	219	R>T	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000504919 COSM536614 RCV002470767 CA227420 RCV002498460 rs61748538 RCV000085832 VAR_012508	220	R>C	lung Variant assessed as Somatic; 0.0 impact. Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy STGD1 [Cosmic, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD
RCV000085839 RCV001723670 rs63749055 RCV002513926 RCV001075620	223	K>missing	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA958774 rs147619585 RCV001073933 RCV001048488 VAR_084851	223	K>Q	Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001098367 rs540124349 CA958771 RCV000897449	225	V>M	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000901876 rs144310835 CA958767 RCV001098366	226	R>H	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001233979 rs149780335 CA958769 RCV001352988 RCV001196793	226	R>S	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001861442 RCV000415009 rs1057518767 CA16043373 VAR_012509 RCV001199212	230	C>S	Macular degeneration Age related macular degeneration 2 STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001389283 CA341289200 RCV000505124 rs1356104318	238	Q>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000735700 rs755733328 CA341289161	239	W>*	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1553195472 CA341289137 VAR_084852 RCV000504757	240	I>R	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_085010	241	E>D	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000085861 rs62646864 RCV001075613 CA227451 VAR_012510	244	L>P	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001352954 rs1662208443	245	Y>missing	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
RCV001240591 rs1662208035 RCV001352995	245	Y>*	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
rs201136017 CA958757 RCV001074903	245	Y>H	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_084853	245	Y>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084854	246	A>T	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_012511 RCV000085862 CA227452 rs62645950	247	N>S	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000085864 rs62646865 VAR_008407 CA227455	249	D>G	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000132594 CA170081 rs62645952 RCV001857474	255	R>C	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 3 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001199628 CA958752 rs148387660 RCV000487903	255	R>H	Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374851665 CA958751 RCV002491814 RCV001243761	256	V>L	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001198959 rs1661753710	262	D>G	Age related macular degeneration 2 [ClinVar]	Yes	ClinVar dbSNP
RCV002522135 RCV000393402 RCV000402094 RCV001241582 RCV000334279 rs567985213 CA958722 RCV000286376	264	R>H	Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs779743222 RCV001002846 RCV001008400 RCV001074665 RCV001542646	279	D>missing	Stargardt disease Retinal dystrophy Retinitis pigmentosa 19 [ClinVar]	Yes	ClinVar dbSNP
RCV000255612 RCV000764206 rs138682163 CA958711	280	M>L	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs141802200 RCV002554732 RCV001074669 CA958708	283	R>G	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001074336 CA10602780 rs886041951 RCV000342885	285	Q>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001268174 RCV001729794 RCV001074574 CA958686 rs781716640 VAR_085011	290	R>W	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_084855 RCV000180145 RCV001002803 RCV000779007 rs190540405 CA247522 RCV001074732	291	P>L	ABCA4-Related Disorders Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000787527 RCV000505141 RCV000787781 RCV001857213 rs764759172	296	L>missing	Progressive cone dystrophy (without rod involvement) Stargardt disease Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_008408 CA227467 rs61748544 RCV000085873	300	T>N	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001074622 rs1440228037	304	M>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1661669685 RCV001074777 RCV001204394	305	Q>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61748545 RCV001075838 RCV000504769 VAR_012512 RCV000085874 CA227468	309	P>R	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000408588 rs886044723 RCV000513081 CA10602453	319	L>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_084856	320	S>C	CORD3; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084857 CA958668 rs747540967	326	Y>missing	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
VAR_084857 rs747540967	326	Y>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
CA227475 RCV001074202 RCV000986374 RCV000085878 rs61751418	328	E>*	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000085879 VAR_012513 rs61751419 CA227477	328	E>V	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_012514 rs61748546 RCV000085881 CA227480	333	R>W	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs61748547 RCV000085366 RCV001074142 CA226858 VAR_008409	336	S>C	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA10602452 RCV002478825 RCV000408537 rs886044724	337	F>L	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1661663692 RCV001075148	339	W>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61751420 RCV001073495 CA226859 VAR_012515 RCV000085367	339	W>G	Retinal dystrophy FFM [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_084858	339	W>del	CORD3; unknown pathological significance [UniProt]	Yes	UniProt
RCV000085368 CA226860 RCV000008353 rs61748548 VAR_008410	340	Y>D	Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs61748548 RCV000505087 RCV000658516 CA26870533	340	Y>H	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000085369 RCV000986373 rs63749083 RCV001075021	342	D>missing	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA341284037 COSM318422 RCV001074077 rs1417184535 RCV002557904	345	Y>C	lung Retinal dystrophy [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
VAR_084859	345	Y>S	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA226864 RCV001073640 RCV000085371 rs61752389	346	K>T	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs61752390 CA10602451 RCV001074163 CA226869 RCV000085374 RCV000414174 RCV000408494	362	Y>*	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001257823 RCV000764205 RCV001073759 COSM465119 RCV000986372 RCV001096640 VAR_012516 RCV000085376 CA226872 rs61748549	380	N>K	Autosomal recessive retinitis pigmentosa kidney ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy STGD1 [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1570407032 RCV001002845	391	K>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
rs1661625047 RCV001073698	398	I>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV002469377 CA958609 RCV001344435 rs559674920	401	T>S	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001075397 rs913030626 RCV001206811 CA26868971	403	D>V	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA226873 RCV000085377 rs61751264 VAR_008411	407	A>V	STGD1 and CORD3 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000085378 RCV001074409 RCV002513925 CA179692 rs61748550 RCV000152707	408	R>*	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs387906387 RCV000008364	409	R>missing	Retinal dystrophy, early-onset severe [ClinVar]	Yes	ClinVar dbSNP
VAR_084860	410	I>T	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084861	415	N>K	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000173679 RCV001073557 rs794726979 VAR_084862 CA239111	418	F>S	Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA200667 RCV000360724 RCV000408013 RCV000303578 rs3112831 VAR_012517 RCV000173675 RCV000297592 RCV000085383 RCV001096637	423	H>R	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive benign variant [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_085012	424	V>A	STGD1 and RP19; unknown pathological significance [UniProt]	Yes	UniProt
rs886044725 RCV001198958 RCV001091615 RCV000408492 CA10602450	431	W>*	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_084863	431	W>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA232811 rs201117452 RCV000490464 RCV000132584	432	E>K	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001266588 rs1448468321 RCV001862574 RCV001074696	437	Q>missing	Inborn genetic diseases Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61752391 RCV000085386 RCV001074256 CA226882	439	W>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_084864 RCV000523526 RCV000387710 RCV001102042 rs770439859 RCV000295678 CA958572 RCV000343633 RCV000330893	440	Y>C	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive CORD3; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000085388 rs61748552 RCV000210294 RCV000504649 CA226886 VAR_008412	445	S>R	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA10588920 RCV000256405 rs886039882 RCV000487508	447	Q>*	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs61748554 RCV002509208 RCV000085390	448	M>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs764170051 CA958536 VAR_084865	455	L>M	RP19; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA341282199 RCV000986371 RCV001869332 rs1366296798	455	L>Q	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000622340 RCV001808322 COSM536621 RCV001102041 RCV000085395 RCV001002804 CA226892 rs1800548 RCV001002844 RCV001074274 RCV003128228 VAR_008413	471	E>K	lung Retinitis pigmentosa ABCA4-Related Disorders Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Inborn genetic diseases Retinal dystrophy ARMD2 and STGD1; unknown pathological significance; ATP-binding capacity and retinal stimulation as in wild-type [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1661577361 RCV001199601	485	G>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
rs145614671 CA958522 RCV002069707 RCV001102040 RCV002556050	487	R>Q	ABCA4-Related Disorders Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_084866	498	D>E	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000372835 RCV001764264 RCV000280673 RCV000334517 rs147135304 CA958515 RCV000338004 RCV001102039	498	D>G	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000505559 rs1553193813 RCV001386481 RCV000504841 CA341281905	499	W>*	Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1661575232 RCV001075839 RCV001052785	499	W>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084867 rs138157885 RCV000378419 RCV000286324 CA958507 RCV001303441 RCV000321513 RCV001073691 RCV001590914	508	R>C	Macular degeneration ABCA4-Related Disorders Variant assessed as Somatic; 4.627e-05 impact. Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Retinal dystrophy STGD1; unknown pathological significance [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs886039299 CA341281841 RCV000787480	510	L>R	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001074731 RCV001002803 RCV000429156 RCV002250625 RCV002272229 CA958502 VAR_084868 rs752786160 RCV000779006	511	R>C	Cone-rod dystrophy 3 (cord3) ABCA4-Related Disorders Cone-rod dystrophy 3 Retinal dystrophy Retinitis pigmentosa 19 Retinitis pigmentosa 19 (rp19) STGD1; unknown pathological significance [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
COSM1181247 RCV000505101 RCV000328209 RCV000512657 RCV001073584 RCV000264059 CA958501 RCV000844930 RCV001102037 RCV000270788 rs140482171 RCV000385092	511	R>H	Macular degeneration ABCA4-Related Disorders large_intestine Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis Pigmentosa, Recessive Retinal dystrophy Stargardt Disease, Recessive [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA958498 RCV002539506 rs767631662 RCV001302714	515	Q>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs369860406 RCV001102036 CA958496 RCV001314292	518	E>K	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000504926 RCV000504738 rs1553192726 CA341280671	519	C>*	Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_084869 CA341280676 rs1224959251	519	C>R	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
RCV000085402 CA226900 rs62646868 VAR_008414	523	D>E	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_012518	525	F>C	STGD1 [UniProt]	Yes	UniProt
rs886044727 RCV000408522 CA10602448	528	Y>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs764995626 RCV001075729 CA958472 RCV002554770	529	N>S	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_084870	533	Q>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000505043 RCV001074843 VAR_012519 rs61748556 RCV000408566 RCV000085405 CA226904	537	R>C	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000276834 rs61752395 RCV001353019 RCV000315522 RCV000085407 RCV001100054 RCV000363019 RCV001074421 RCV000369062 CA226906	537	R>H	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Retinal dystrophy Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001257824 rs1661179785	539	L>missing	Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs748615703 RCV001314112 RCV001100052 CA958465 RCV002554953	539	L>V	ABCA4-Related Disorders Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000498003 rs1553192715	541	L>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000008359 RCV000408513 VAR_008415 RCV001002385 RCV000085410 RCV000505133 RCV000008358 RCV000787481 rs61751392 RCV001196126 RCV000504750 CA226911 RCV000787482	541	L>P	Cone-rod dystrophy 3 (cord3) Retinitis pigmentosa Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy Retinitis pigmentosa (rp) STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect intracellular vesicle localization; significantly reduces substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001257842 RCV000171452 rs793888523	545	N>missing	Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
VAR_084871	548	W>R	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA226914 VAR_012520 rs61748557 RCV000085412	549	A>P	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA347915 rs61748557 RCV002517367 RCV000203500	549	A>T	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000085413 RCV001074836 VAR_012521 RCV000761253 RCV000763048 RCV000778263 CA226915 rs61748558 RCV000782281	550	G>R	ABCA4-Related Disorders Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinal dystrophy Retinitis pigmentosa 19 (rp19) STGD1 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000378123 RCV000408576 RCV000286087 rs145525174 RCV000343411 RCV001100050 RCV000416079 VAR_012522 RCV001075051 CA239745 RCV000174239 RCV000390005	552	V>I	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Retinal dystrophy RP19; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1570393848 CA341280214 COSM1688060 RCV000787010 TCGA novel	559	W>*	Variant assessed as Somatic; impact. skin Cone-rod dystrophy 3 [NCI-TCGA, Cosmic, ClinVar]	Yes	NCI-TCGA ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001295365 CA958455 rs765891059 RCV002468632	565	P>H	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001100048 rs74516571 RCV000132586 CA232813 RCV001075527	567	V>M	ABCA4-Related Disorders Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001074238 RCV000085417 CA226919 rs61748559 VAR_008416	572	R>P	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000085416 RCV001074326 VAR_008417 RCV000008357 CA226918 rs61748559	572	R>Q	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_084872	572	R>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000408573 rs886044728 CA10602447 RCV000787483	573	M>I	Severe early-childhood-onset retinal dystrophy Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs374224955 RCV001073439 CA958448 RCV001862502 VAR_084873	576	D>H	Retinal dystrophy found in a patient with pattern dystrophy; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001352949 rs1661175744	581	T>N	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001067671 RCV001074327 CA958444 rs368362755	582	N>S	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs145265791 RCV001005006 CA958443 RCV001377733 RCV001075802	583	K>N	Cone-rod dystrophy 3 (cord3) Cone-rod dystrophy 3 Retinal dystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1570393727 RCV001002842 RCV001325162 CA341279874	586	D>E	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001075431 rs1661175150 RCV001370638	587	R>G	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001075234 RCV002557923 rs1661166945	587	R>S	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1557787559 RCV001008622 RCV000754585	589	W>missing	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
VAR_084874	593	P>L	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000085424 CA226926 RCV000408487 rs61751393	597	P>S	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000408533 CA10602446 rs886044729	598	V>G	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002481977 RCV001053452 rs201838557 CA958421	598	V>M	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000387613 CA226933 VAR_012523 RCV000273447 rs61749410 RCV000778262 RCV000330796 RCV000277127 RCV000085429	602	R>Q	Macular degeneration Variant assessed as Somatic; 0.0 impact. ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive STGD1 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002250560 RCV002498452 rs61749409 RCV000504951 RCV000408597 RCV000085428 RCV001849310 RCV001723664 CA226932 RCV001353025 RCV000850520 VAR_008418	602	R>W	Cone-rod dystrophy 3 (cord3) Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy Retinitis pigmentosa 19 Retinitis pigmentosa (rp) Retinitis pigmentosa 19 (rp19) STGD1 [Ensembl, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_084875	603	Y>C	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs1064793006 RCV000486363 CA16617211 RCV001074372	603	Y>H	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_084876	605	W>del	CORD3; unknown pathological significance [UniProt]	Yes	UniProt
VAR_012524 RCV000787762 CA226936 RCV001239085 rs61749412 RCV000408475 RCV001100047 RCV000085431 RCV001075859 RCV000625951 CA341279593	607	G>R	Cone-rod dystrophy 3 ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs61749412 CA226937 RCV000085432 VAR_012525	607	G>W	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001090315 VAR_008419 RCV000408543 RCV001723810 RCV001074552 rs61752398 CA958417	608	F>I	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV002272222 CA16042375 RCV000414682 rs1057517700	612	Q>*	Variant assessed as Somatic; impact. Retinitis pigmentosa 19 Retinitis pigmentosa 19 (rp19) [NCI-TCGA, ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000008342 rs61751386 RCV000085435	616	E>missing	Retinitis pigmentosa 19 [ClinVar]	Yes	ClinVar dbSNP
CA341279484 rs1557787473 RCV000986370 VAR_084877 RCV001002841 RCV001858641	616	E>K	Severe early-childhood-onset retinal dystrophy Stargardt disease STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001075608 rs1661163134 RCV001389149	618	G>R	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1661162346 RCV002557922 RCV001075222	619	I>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs878853396 RCV000225610 CA10581652	625	Q>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000408594 CA10602445 rs886044730	631	G>R	Variant assessed as Somatic; impact. Severe early-childhood-onset retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA226949 RCV000085440 RCV000408491 rs61749414	635	Q>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA226948 rs61749414 VAR_012526 RCV001074535 RCV000085439	635	Q>K	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV002518745 CA10588302 RCV000256006 RCV000504776 rs145961131 RCV001075471	636	Q>*	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000085441 rs61752400 CA226951 VAR_012527	636	Q>H	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_084878	636	Q>K	CORD3; unknown pathological significance [UniProt]	Yes	UniProt
rs61749415 CA226952 RCV001074066 RCV000085442	639	Y>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_084879	639	Y>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs766570903 RCV000408560 CA10602444	640	P>A	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_085013 RCV000439383 CA16603707 rs760790294 RCV001073702	640	P>L	Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA226956 VAR_084880 rs61749416 RCV000085444	641	C>S	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV001098278 CA226958 RCV001074170 RCV000085446 VAR_008420 rs61754024 RCV000408583	643	V>G	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Retinal dystrophy CORD3; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000353201 RCV001098279 RCV000318324 RCV000356519 RCV000986369 rs61749417 VAR_012528 RCV000085445 RCV001075850 RCV000260757 CA201008 RCV000174470	643	V>M	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Retinal dystrophy Stargardt Disease, Recessive STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_008421 RCV001074983 rs61749418 RCV000085447 CA226960	645	D>N	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000763047 RCV001074668 rs61749420 RCV000085452 VAR_012529 RCV000408546 CA226965	653	R>C	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_084881 RCV000484928 rs141823837 CA958377 RCV001075584	653	R>H	Retinal dystrophy STGD1; unknown pathological significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD
RCV001002840 RCV000786893 rs141823837 CA341278906	653	R>L	Cone-rod dystrophy 3 Stargardt disease [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001075570 RCV000408459 CA347415 rs200692438 RCV000194199 RCV001071977 RCV002485297	655	F>C	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_084882	661	L>R	CORD3; unknown pathological significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding [UniProt]	Yes	UniProt
RCV000504673 rs1553192432	662	A>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA16042332 rs865990202 RCV001353030 RCV000414150	663	W>*	Retinitis pigmentosa 19 Retinitis pigmentosa 19 (rp19) [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001074567 RCV001376519 CA958369 RCV001381381 rs757302286	665	Y>*	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000085455 rs61749422 RCV001074028 RCV001353038	669	M>missing	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1661098509 RCV001199603	671	V>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
CA958364 rs575453437 RCV000329208 RCV001074658 RCV000478104	675	V>I	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000585482 CA341278681 RCV001073835 rs1553192420	679	E>V	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000210310 RCV001195987 CA226973 RCV000408512 rs61749423 RCV000504983 RCV000085458 RCV001073628	681	R>*	Variant assessed as Somatic; 0.0 impact. Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Leber congenital amaurosis Benign concentric annular macular dystrophy Retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA226975 rs61752402 RCV000085459 VAR_012530	686	L>S	STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_084884	690	G>V	STGD1; unknown pathological significance; severely decreases solubility; loss of cytoplasmic vesicle localization; very low substrate binding [UniProt]	Yes	UniProt
RCV001098275 TCGA novel CA341278588 rs1454888484	693	N>K	ABCA4-Related Disorders Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD NCI-TCGA
rs61749425 RCV001074306 CA226978 RCV000085461	700	W>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_084885	700	W>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV002554700 rs374152623 RCV001074145 RCV001368631 CA958348 COSM913459	709	S>L	Variant assessed as Somatic; 0.0 impact. endometrium Retinal dystrophy Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_012531 rs61749426 CA226982 RCV000085463	716	T>M	Variant assessed as Somatic; 0.0 impact. STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70% [NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1660994342 RCV001073596	748	C>Y	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001073242 rs1660994125 RCV001862489	751	L>P	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084886	754	F>S	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA10610471 RCV000407927 RCV001226620 RCV000302117 rs886046566 RCV000359118 RCV001098274 RCV000305429	760	L>V	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_067427	762	A>E	ARMD2 [UniProt]	Yes	UniProt
rs61749428 RCV000085467 CA226986 RCV000408455 RCV001074411 VAR_012532	764	C>Y	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70% [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_012534 RCV001002839 CA226988 RCV000085469 rs61749429	765	S>N	Stargardt disease STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs61752404 CA226989 RCV000085470 VAR_012533	765	S>R	STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA226990 RCV001074642 VAR_012535 RCV000408526 rs61751395 RCV000085471	767	V>D	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; also found in a patient with macular dystrophy; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001196396 rs764727316	773	Y>C	Age related macular degeneration 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_085014	779	C>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084887	782	W>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs1660946056 RCV001377472 RCV001280944	795	S>R	Generalized choriocapillaris dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000085477 VAR_012536 rs61749432 CA226998	797	L>P	STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA958275 RCV001064178 RCV002469338 rs542919944	799	P>L	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001073511 RCV001683659 RCV001353035 rs374410829 RCV000778261 CA26843455	801	A>T	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs1570386206 RCV000787484	803	G>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
rs1660945050 RCV001073968	803	G>R	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084888	808	Y>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084889	816	G>V	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs61750202 RCV000085479 RCV002250561 RCV001075477 CA227000 VAR_008422 RCV000787774	818	G>E	Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy ARMD2 and STGD1; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA341277042 rs61749433 CA227001 RCV000085480 RCV001075705 RCV000023140 VAR_008423	821	W>R	Retinal dystrophy Severe early-childhood-onset retinal dystrophy STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_012537	824	I>T	STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding [UniProt]	Yes	UniProt
CA958263 rs368367104 RCV001213685 RCV001376391	825	G>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001362943 CA958262 rs144018419 RCV001096537	827	S>T	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001205677 RCV001096536 rs139250920 CA958261	829	T>M	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_084890	840	M>R	STGD1; unknown pathological significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding [UniProt]	Yes	UniProt
rs1660938514 RCV001096533	845	L>V	ABCA4-Related Disorders [ClinVar]	Yes	ClinVar dbSNP
CA341276870 RCV000986367 rs779466403	846	D>G	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16603706 RCV000787485 RCV001074641 rs779466403 RCV000430954	846	D>V	Retinitis pigmentosa Variant assessed as Somatic; impact. Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, NCI-TCGA, Ensembl]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV001074506 rs61749435 RCV000085485 CA227008 RCV000986366 VAR_012538	849	V>A	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70% [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_008424 rs61749436 CA227009 RCV000085486	851	G>D	STGD1; highly reduced ATP-binding capacity; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001199605 rs1660937747	852	L>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs61749437 RCV001075467 RCV000504877 CA227010 RCV000085487 VAR_012539	854	A>T	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases N-Ret-PE binding in the range of 40-70% [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs61749438 RCV000008334 CA227013 RCV000085489	855	W>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs61752406 RCV000085488 CA227011 RCV000408572 RCV001073601	855	W>*	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000481787 rs201223321 CA10581651 RCV000225582	856	Y>N	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001075787 CA958244 rs768435443 RCV003117742	857	L>P	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs61752407 RCV000085490 RCV001542644	858	D>missing	Retinitis pigmentosa 19 [ClinVar]	Yes	ClinVar dbSNP
RCV001074539 RCV002505665 rs140281495 CA958243 RCV001346357	859	Q>R	Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000787487 RCV000408474 RCV000408579 RCV000008328 RCV000505063 RCV000787768 VAR_008425 RCV000415097 RCV001535670 RCV000787486 RCV001352969 RCV000623365 RCV000085494 CA119128 RCV000008329 RCV001198385 rs76157638 COSM328066	863	G>A	Retinitis pigmentosa Cone-rod dystrophy 3 Peripheral neuropathy Inborn genetic diseases Retinitis pigmentosa (rp) Cone-rod dystrophy 3 (cord3) pancreas Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Cone-rod dystrophy STGD1, FFM and CORD3; also found in a patient with bull's eye maculopathy; mild alteration probably leading to disease phenotype only in combination with a more severe allele; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis; significantly attenuates 11-cis-retinal binding; decreases about 80% the N-retinylidene-phosphatidylethanolamine transport activity; stimulates modestely the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding. Does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity [ClinVar, Ensembl, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_012540	863	G>del	STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis [UniProt]	Yes	UniProt
CA958220 rs746566873 RCV000408530 RCV000490201 RCV001074708	870	P>L	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1570382663 RCV002466581 RCV000787488 CA341276158	871	W>*	Retinitis pigmentosa Cone-rod dystrophy 3 Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
rs62642560 RCV000008360 RCV000085495	873	F>missing	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
VAR_012541 rs62642570 CA227018 RCV000085496	873	F>L	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001073797 RCV001068714 rs1660843703	876	Q>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084891	876	Q>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs1570380080 RCV000787489	894	L>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
RCV000315748 RCV000280747 RCV000408596 RCV001096530 VAR_012542 RCV001197697 RCV000375069 RCV000260644 RCV000085500 rs61749440 CA227022	897	T>I	Macular degeneration ABCA4-Related Disorders Age related macular degeneration 2 Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001280945 RCV001381439 rs1660762877	898	E>missing	Generalized choriocapillaris dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61749441 RCV000408471 CA10602442	898	E>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs61749441 RCV000085501 RCV001101957 CA227023 COSM1126915	898	E>K	ABCA4-Related Disorders prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000085502 RCV002470763 CA227025 rs61754030 VAR_008426 RCV001101956 RCV000787777	901	T>A	ABCA4-Related Disorders Stargardt disease Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001853370 rs869312184 RCV000210324 RCV000785052	905	E>missing	ABCA4-Related Disorders Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1660761326 RCV001199607	911	E>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
RCV002553324 rs376526710 CA958161 RCV001053608	920	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001270179 RCV002561021 rs985690206 CA26840906	927	P>S	Stargardt disease 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000078663 CA220679 RCV001074049 rs398123337	928	G>W	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA26840893 rs58331765 RCV001073459	931	V>L	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000085506 RCV000364229 RCV001002838 RCV001073603 VAR_008427 CA227031 RCV000308729 RCV000392935 RCV001101952 rs58331765 RCV002247267 RCV000314132 RCV000008330 RCV001807722	931	V>M	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Retinitis pigmentosa 19 Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000132589 CA345716 rs527236129	933	N>I	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs61749444 RCV000085507 VAR_012544 CA227032	935	V>A	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs149071415 CA958148 RCV000504891 RCV001047033	938	F>S	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000171156 rs786205447 CA235750 RCV001257843	939	E>*	Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001075267 CA958146 rs144995371 RCV001101951 RCV002487242 RCV000316390	940	P>R	ABCA4-Related Disorders Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002499633 CA958143 RCV001323880 rs1801581	943	R>L	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA119146 RCV000294335 RCV000008374 RCV000349295 RCV000399411 VAR_008428 RCV001002837 RCV000392936 RCV000152706 RCV001101950 rs1801581 RCV000008375 RCV000085512	943	R>Q	Macular degeneration ABCA4-Related Disorders MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive linkage disequilibrium with A-863 in the European population and STGD1; found in a patient with macular dystrophy; unknown pathological significance; decreases 11-cis-Retinal binding affinity by 100-fold [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA227037 rs61749446 RCV000085510 RCV001074959 VAR_012545	943	R>W	Retinal dystrophy STGD1 and FFM [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000085513 VAR_084892 CA227039 rs61749447	954	Y>D	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000078664 RCV001074052 rs398123338 CA220681	957	Q>K	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001075731 rs61749448 CA227043 RCV000085516 VAR_008429	957	Q>R	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000278622 RCV000338922 RCV000425865 RCV000778260 RCV000323631 RCV000373695 rs368846708 CA958130 RCV000408538	959	T>A	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs61752409 RCV000085517 VAR_012546 CA227044	959	T>I	STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001199608 CA958129 RCV000488184 RCV001099950 rs368846708	959	T>S	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs61752410 RCV000986365 RCV000085520 RCV000008363	963	G>missing	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
CA227048 RCV001073897 RCV000085521 rs61749449	965	N>D	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1570377861 RCV001074143 RCV000787765 CA341275328	965	N>K	Stargardt disease Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000787770 RCV000787491 RCV001074886 VAR_008430 RCV000787490 rs201471607 RCV000408500 RCV000787492 CA958124 RCV000413621	965	N>S	Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Cone-rod dystrophy Retinitis pigmentosa (rp) STGD1; reduced retinal-stimulated ATP hydrolysis; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; decreases about 60% the N-retinylidene-phosphatidylethanolamine transfer activity; stimulates modestly the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding; does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_084893	965	N>Y	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA341275301 VAR_084894 rs1570377849	970	T>P	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs61749450 RCV000085522 CA227050 RCV000999861 VAR_012547 RCV002225080	971	T>N	Severe early-childhood-onset retinal dystrophy STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA958123 rs745825311 RCV001227523 RCV001074155	971	T>P	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_012548 RCV000085523 RCV000504717 rs61749451 RCV002498454 RCV000505078 CA227051	972	T>N	Retinitis pigmentosa Cone-rod dystrophy 3 Retinal dystrophy Retinitis pigmentosa (rp) STGD1; unknown pathological significance [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_084895	973	L>S	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV001075843 VAR_012549 RCV000085524 rs281865400 CA227053	974	S>P	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs863223338 RCV000201475	976	L>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
VAR_084896	977	T>P	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA227054 VAR_008431 rs61749452 RCV000085525	978	G>C	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs61749453 VAR_084897 CA227055 RCV000085526	978	G>D	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001353029 rs61749452 RCV001871909 CA26839909	978	G>S	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs886044734 RCV000408600 CA10602440	980	L>F	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001352962 RCV001040117 rs1368508052 CA341275224	983	T>A	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs61752411 CA227057 RCV000085527 RCV001099946 RCV001075282	983	T>I	ABCA4-Related Disorders Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1660624360 RCV001075295	985	G>V	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61749454 RCV000085529 RCV000504904 RCV001074424 VAR_012550 CA227059	989	V>A	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA958086 rs552307838 RCV001203658 RCV001099944	989	V>I	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001073380 CA227061 RCV000505091 VAR_012551 RCV000085531 CA341275181 RCV002247488 rs61749455	991	G>R	Age related macular degeneration 2 Retinal dystrophy FFM and STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1306732480 RCV001074610 RCV001063353	994	I>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs546606452 RCV001270349 RCV001040975 CA958084	994	I>V	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1660620340 RCV001075714	1006	G>D	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1660620409 RCV001376520 RCV001294592	1006	G>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001074067 rs1660620146	1008	C>R	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61749456 RCV000085540 VAR_012552 CA227072	1014	L>R	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs61749457 CA227075 RCV000085543 VAR_012553	1019	T>A	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_012554 RCV000412846 rs201855602 CA958052 RCV001002835 RCV001074386	1019	T>M	Variant assessed as Somatic; 0.0 impact. Stargardt disease Retinal dystrophy STGD1 [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA341292703 rs112300381 RCV001074253 RCV001367808	1020	V>E	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1570373408 RCV001312082 RCV001029969	1021	A>missing	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
VAR_084898	1022	E>G	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs61749459 RCV000408496 CA227078 RCV000085545 VAR_012555	1022	E>K	Severe early-childhood-onset retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA958048 RCV002486156 RCV001300386 rs369703217	1026	F>L	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000504918 rs1553190664 CA341292652	1027	Y>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121909204 RCV001040974 RCV000008331 CA340711	1028	A>V	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000085546 rs61751397 CA227079 RCV000408564	1029	Q>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_084899	1029	Q>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000085547 VAR_012556 CA227081 rs61750060	1031	K>E	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs886044735 RCV000408456 RCV000449544 RCV001543589	1032	G>missing	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
rs878853397 RCV000225375	1033	K>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001856325 RCV001098165 rs771234031 CA26866357	1033	K>E	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001098164 rs748585116	1034	S>T	ABCA4-Related Disorders [ClinVar]	Yes	ClinVar dbSNP
CA227082 RCV000008337 RCV000085548 VAR_008432 rs61750061	1036	E>K	Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000008359 RCV000778259 RCV000008348 RCV001000014 RCV000008350 RCV000787495 RCV001196125 VAR_008433 RCV000763046 RCV000505109 RCV000787494 RCV000008358 RCV000085549 rs61751374 RCV000787493 CA119135	1038	A>V	Cone-rod dystrophy 3 (cord3) Retinitis pigmentosa ABCA4-Related Disorders Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy Retinitis pigmentosa (rp) STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis; decreases solubility at 70%; does not affect intracellular vesicle localization; significantly reduces substrate binding in the absence of ATP; reduces basal ATPase activity [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA227083 RCV000085550 rs61750062 COSM3401100 VAR_084900	1050	G>D	Variant assessed as Somatic; 0.0 impact. central_nervous_system STGD1; unknown pathological significance [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_012557 RCV000085551 rs61752412 CA227085	1055	R>W	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs772663974 CA958030 RCV001352946 RCV001871906	1060	Q>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_012558 CA227086 rs61752413 RCV000085552	1063	S>P	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA10588300 rs886039300 RCV001199609 RCV001075837 RCV000255987	1065	G>D	Retinal dystrophy Cone dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs775661924 CA958009 RCV000346419 RCV001098163 RCV000283211 RCV000342791 RCV000377692	1069	K>R	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000008338 RCV000085558 rs61750064	1071	S>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001073604 RCV000787775 RCV000504931 rs387906385 RCV000413475	1071	S>missing	Bietti crystalline corneoretinal dystrophy Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
COSM198611 RCV002255094 rs61750065 RCV000085559 CA227093 VAR_008434	1071	S>L	Variant assessed as Somatic; 0.0 impact. ABCA4-Related Disorders large_intestine STGD1; reduced ATP-binding capacity [NCI-TCGA, ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP
VAR_008435	1072	V>A	STGD1 [UniProt]	Yes	UniProt
VAR_084901	1074	I>L	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084902	1078	G>E	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV001074403 rs1660532299	1079	D>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61751398 RCV000505122 CA341292154	1087	E>*	Congenital stationary night blindness [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001075184 RCV000085563 RCV000408551 VAR_012559 CA227098 rs61752416	1087	E>D	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227097 RCV001199228 RCV000085562 RCV001075833 rs61751398 RCV001814057 RCV002498455 VAR_008436 RCV001808323 RCV002466427	1087	E>K	Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000085564 RCV001198727 VAR_012560 CA227099 RCV000408464 rs61752417	1091	G>E	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy FFM and STGD1; decreases solubilized at 70%; does not affect intracellular vesicle localization; does not affect substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1237125868 RCV001074251	1093	D>E	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084903	1094	P>T	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs886044731 RCV000408579 CA10602438 RCV001092802	1097	R>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_012561	1097	R>C	STGD1 [UniProt]	Yes	UniProt
RCV001074565 rs61750118 VAR_084904	1097	R>S	Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
CA957993 RCV000408518 rs756840095 RCV001074682 VAR_084905 RCV000478178 RCV001196593	1098	R>C	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_084907 RCV000085567 rs61750119 CA227104	1099	S>P	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_084906	1099	S>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000504826 RCV001857212 rs1553190559 CA341291996	1100	I>N	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002557911 CA957989 rs373868915 RCV001074446	1101	W>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs61752419 CA227107 RCV000085569 RCV000505014	1101	W>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001353018 rs1660527879	1108	R>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV002490678 rs61750120 RCV000150052 CA220683 RCV001195927 RCV001074904 RCV001352953 RCV001002834 VAR_012562 RCV000078665	1108	R>C	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy STGD1 and FFM; reduced ATP-binding capacity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs61750121 CA227109 COSM1345001 RCV000085570 RCV001073697 VAR_012563	1108	R>H	large_intestine Retinal dystrophy STGD1 [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs61750121 CA227110 RCV000408460 VAR_012564 RCV000085571	1108	R>L	Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs61750122 RCV000085573 CA227112 VAR_008437	1112	T>N	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV001073572 CA227113 RCV000085574 RCV000023141 rs61751399 VAR_008438 RCV000504768	1122	E>K	Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa (rp) STGD1 and CORD3 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001854781 RCV000408515 CA10602437 rs1047376	1126	L>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000787496 RCV001873209 CA341291128 rs1570370929	1127	G>E	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1660481072 RCV001074500	1127	G>R	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1660480861 RCV001073403	1128	D>G	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs779426136 CA957945 RCV000413704 RCV000385765 VAR_012565	1129	R>C	ABCA4-Related Disorders STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000986364 rs779426136 CA341291096	1129	R>G	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341291094 RCV001073590 rs1801269	1129	R>H	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_008439 RCV000408578 RCV000763045 CA227116 RCV001199211 RCV001075726 RCV000085576 rs1801269	1129	R>L	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA16617206 RCV000485764 rs1064793010 VAR_084909	1130	I>T	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA341291026 RCV001073312 rs1432207212 RCV002554655	1133	I>T	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001386130 RCV001075236 rs1660480045	1136	G>E	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1287053724 CA341290944 RCV001074053 RCV001300385	1138	L>P	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002497485 RCV001073352 CA957943 RCV001220401 rs150895509	1139	Y>C	Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_084910	1140	C>W	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084911	1145	L>H	CORD3; unknown pathological significance [UniProt]	Yes	UniProt
RCV001074510 rs375783686 RCV001041420 CA957937	1150	C>Y	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001002833 rs1570370826	1150	C>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
rs1340749727 VAR_084912 CA341290608	1159	L>S	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
CA957928 RCV000408467 rs768278935 RCV000761669 RCV002267731 VAR_084913 RCV001257844	1161	R>H	Autosomal recessive retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_084914	1177	C>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV001854782 rs886044736 RCV000408539	1178	S>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs760620913 RCV001349961 CA957901 RCV001096428	1178	S>N	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001075131 rs267598773 RCV002514314 RCV000842622 CA957900	1180	S>L	Retinal dystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000008369 rs387906388	1181	S>missing	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
CA957897 RCV000261992 RCV001096426 rs75267647 RCV000297212 RCV000356767 RCV000894101 RCV001073731 VAR_084915 RCV000331144	1183	G>C	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Retinal dystrophy Stargardt Disease, Recessive CORD3; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001096425 CA957894 RCV001399105 rs368692594	1190	A>T	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA957893 rs770363333 RCV001096424	1192	V>I	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001199611 rs1660447204	1195	L>missing	Cone dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000305309 RCV000391783 rs370967816 RCV000360005 RCV000260569 RCV001096422 RCV002520513 CA957889	1196	T>S	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000340328 RCV000085583 RCV000308786 RCV001096421 CA119137 RCV000176456 RCV000408567 RCV000401597 RCV000008361 VAR_008440 rs61750126 RCV000343774	1201	L>R	Macular degeneration Cone-rod dystrophy 3 (cord3) ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_084916	1203	G>D	STGD1 [UniProt]	Yes	UniProt
CA957869 RCV000597651 RCV001195780 RCV002267738 RCV002289889 RCV002497243 RCV001101855 VAR_084917 rs146786552	1203	G>E	ABCA4-Related Disorders Age related macular degeneration 2 Cone-rod dystrophy 3 Cone-rod dystrophy Retinitis pigmentosa 19 CORD3; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA16617205 rs1064793011 VAR_084918 RCV001101857 RCV000479551 RCV001073935	1203	G>R	ABCA4-Related Disorders Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
CA227127 RCV000085587 COSM1667715 rs61750127 VAR_008441	1204	D>N	breast STGD1; found in a patient with age-related macular degeneration; unknown pathological significance [Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000319010 RCV000282704 RCV000387472 RCV000176523 RCV001101854 RCV000372022 rs76258939 VAR_084919 RCV000132590 CA201962	1209	M>T	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1570367398 RCV000994044 RCV001199612	1215	H>missing	Cone-rod dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001858640 RCV000986363 rs1570367367	1222	V>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000267412 rs762213896 RCV001196128 RCV000321298 RCV000361939 RCV001101853 CA957853 RCV000317911 RCV001859774	1224	C>G	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Age related macular degeneration 2 Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000413110 rs1057517869 RCV001075421 CA16042373 COSM913451	1228	E>*	Variant assessed as Somatic; impact. endometrium Retinal dystrophy [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV001858639 RCV000986362 CA341289365 rs1366653130	1233	L>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1383231039 RCV000761668 RCV001199613 CA341289337	1234	P>L	Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001074757 CA227130 rs61752422 RCV000085589	1235	N>D	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001244393 CA341289195 rs1570367230 RCV000986361	1243	Y>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA227132 rs61750128 RCV000085590 VAR_012567	1250	L>P	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs61752423 RCV001074194 RCV000085591 CA227133	1252	E>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000593950 RCV001101852 rs377098736 CA957840	1252	E>V	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001101851 RCV001075720 CA227135 rs61752424 RCV000085592 VAR_012568 RCV000408481	1253	T>M	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Retinal dystrophy FFM; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000787497 rs1570367144	1257	L>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
rs61752425 RCV000408535 RCV000085593 CA227137	1270	E>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000408497 CA10602434 rs886044738	1272	I>T	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001198725 RCV001092801 rs746541266 CA957778 RCV000408545	1291	Q>*	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs61752427 RCV001073602 RCV001727570 VAR_084920 RCV000085598 CA227145	1300	R>missing	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000324092 VAR_012569 RCV000283155 RCV000377626 RCV000085599 RCV000342976 RCV000378686 RCV001099863 RCV000505027 CA227147 rs61750129	1300	R>Q	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_084920 rs61752427	1300	R>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
RCV000327833 rs746468013 RCV000327729 RCV000272690 CA10611635 RCV000366202 RCV001099862	1316	D>A	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA26855497 rs369361520 RCV001856353 RCV001099861	1324	A>V	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs761989194 CA957754 RCV001298774 RCV001099860 RCV000275081 RCV000314854 RCV000367305 RCV000392774	1326	A>G	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000085602 RCV001074147 rs61752428 CA227152	1332	Q>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001336808 CA341287505 rs765176802	1332	Q>H	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_084921	1332	Q>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV001858638 rs1571265241 RCV000986359	1335	P>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000986358 RCV001071876 rs61751401	1346	T>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs754899711 CA957733 RCV001235117 RCV000787903	1357	A>T	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1183074086 VAR_084922 CA341286798	1368	R>C	Variant assessed as Somatic; 0.0 impact. CORD3; unknown pathological significance [NCI-TCGA, UniProt]	Yes	ClinGen UniProt NCI-TCGA dbSNP gnomAD
rs1571265125 RCV002549665 RCV000986357	1370	H>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084923	1371	K>N	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA16621568 rs1064797113 RCV001199614 RCV000488409	1376	Q>H	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1327707460 RCV001075060 CA341286534 RCV001862591	1377	I>V	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001315173 CA957702 RCV002543667 rs777063656	1378	V>M	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000778258 CA129033 RCV000454310 RCV000023139 VAR_008443 RCV000008362 RCV000787498 rs61750130 RCV000078666 RCV001075868 RCV000763044	1380	P>L	Mandibulofacial dysostosis with mental deficiency ABCA4-Related Disorders MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy STGD1; also found in a patient with chorioretinal atrophy; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000085607 VAR_012570 rs61750131 CA227159	1388	L>P	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs61752430 CA227160 RCV000085608 RCV001075006	1390	L>P	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000778257 CA957690 RCV000408552 rs62642573	1399	E>*	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_012571 COSM1344995 RCV000132591 CA227162 rs62642573 RCV000085609	1399	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine skin Severe early-childhood-onset retinal dystrophy STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000085612 CA227165 rs61750133 VAR_008444	1406	H>Y	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000787779 RCV001195988 rs1571264574	1408	W>missing	Age related macular degeneration 2 Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
CA227167 VAR_008445 rs61750134 RCV000085614	1408	W>L	STGD1; does not affect secondary structure; decreases structural flexibility; significantly decreases all-trans-retinal binding [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
VAR_008446 RCV000210333 RCV000408501 rs61750135 RCV000085613 CA227166	1408	W>R	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; reduced retinal-stimulated ATP hydrolysis [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_084924	1408	W>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000408549 RCV003155072 RCV000085616 CA227169 RCV002490742 rs61750137 RCV001074847	1412	Q>*	Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA341286059 RCV000787499 rs1571264551	1415	T>P	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_085015	1416	F>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000358611 RCV000408394 RCV000345844 RCV001515591 RCV001098066 CA957663 RCV000306201 rs142673376 RCV000603618 RCV001074568	1419	M>T	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Retinal dystrophy Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA202170 VAR_008447 RCV000346856 RCV000085624 RCV000176915 RCV000294305 RCV000307168 RCV001098065 rs1800549 RCV000408392	1428	T>M	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000085625 CA227178 VAR_008448 rs61752432	1429	V>A	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_012572	1430	L>P	STGD1 [UniProt]	Yes	UniProt
CA227181 VAR_008449 COSM1344994 RCV000085627 rs56357060 RCV000778256 RCV000408575	1433	V>I	ABCA4-Related Disorders large_intestine Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002554678 RCV001073788 rs1283350532 CA341285769	1437	K>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA26854468 RCV001075220 rs1046550021 RCV001862602	1438	P>A	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs61750140 VAR_008450 CA227182 RCV001257845 RCV000085628	1439	G>D	Autosomal recessive retinitis pigmentosa STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_008451 RCV000085630 CA227184 rs61750141 RCV000504867	1440	F>S	Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_012573 RCV000085629 CA227183 rs61752433	1440	F>V	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs762150575 RCV000787780 VAR_084925 CA957653 RCV000480271 RCV001073593	1442	N>K	Stargardt disease Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000085631 CA227185 RCV001073587 rs61750142 RCV000408447 VAR_012574 RCV000779005 RCV002247490	1443	R>H	Variant assessed as Somatic; 0.0 impact. ABCA4-Related Disorders Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; loss of the majority of alpha-helical secondary structure; does not bind all-trans-retinal; does not affect conformational change [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1660166963 RCV001074820	1447	E>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs886044741 CA10602430 RCV000408520	1449	W>C	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs886044742 CA10602429 RCV002519761 RCV000408486	1452	E>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_084926	1453	Y>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs758835368 RCV000505057 RCV001075739 RCV000443223 CA957621 RCV000779004	1455	C>R	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341285265 rs1347261858 RCV001352952 RCV001871907	1461	W>C	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_084927	1461	W>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs142732109 RCV002507145 RCV002249386 CA957608 RCV000658513	1473	L>M	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000085635 RCV001808324 VAR_084928 CA227190 rs61752434	1479	W>missing	Severe early-childhood-onset retinal dystrophy STGD1 and CORD3; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs61752434 VAR_084928	1479	W>del	STGD1 and CORD3; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
VAR_084929	1484	P>S	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV001002829 RCV000408536 RCV001074852 RCV001198562 RCV002498456 RCV000085636 CA227192 VAR_008452 rs61750145	1486	P>L	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV002470764 rs61750147 RCV002225081 VAR_012575 RCV000085639 CA227195	1488	C>F	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000085637 rs61750146 RCV000408472 RCV000763043 VAR_008453 RCV001073630 CA227193 RCV001808325	1488	C>R	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy Retinitis pigmentosa 19 STGD1 and FFM; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis; does not affect secondary structure; oss of structural flexibility; significantly decreases all-trans-retinal binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000085638 VAR_012576 CA227194 RCV000408580 rs61750147	1488	C>Y	Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001074595 CA957599 RCV000961293 rs140952412	1489	R>S	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs61750148 RCV001073829	1490	C>G	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA227198 RCV000085641 RCV000177442 RCV000787763 RCV000210300 RCV001542643 RCV000779003 VAR_008454 RCV002287365 rs61751402	1490	C>Y	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001074951 RCV001862585 rs1660137001	1502	C>F	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084930	1503	P>L	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV001096337 RCV000351810 RCV000372633 rs190370456 COSM3934865 CA957595 RCV000294524 RCV000385412	1504	E>K	Macular degeneration Variant assessed as Somatic; 0.0 impact. oesophagus ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA957590 RCV001380976 rs568792949 RCV001074181 RCV000408586	1507	G>R	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_012577	1508	G>C	FFM [UniProt]	Yes	UniProt
rs886046564 CA16617202 VAR_084931 RCV000483262	1511	P>H	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000374011 CA10611712 RCV000321629 RCV000315841 RCV002520511 RCV001096335 rs886046564 RCV000263027	1511	P>L	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA227203 RCV000085644 VAR_084932 rs61750150	1512	P>R	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000678509 RCV001004999 RCV001074410 RCV000210298 RCV000504708 rs281865377 RCV000505070 RCV001074966 RCV000085645 RCV002267726 RCV001235213 RCV000504962	1513	Q>missing	Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Cone-rod dystrophy Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000505160 RCV000085646 VAR_012578 CA227206 rs281865402 RCV001376334	1513	Q>R	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
CA26846937 RCV001096334 rs1800550	1517	R>C	Variant assessed as Somatic; 0.0 impact. ABCA4-Related Disorders [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000085652 VAR_008455 rs1800550 CA227212	1517	R>S	ARMD2 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA341284696 rs1553188916 RCV000625606 RCV001860463 RCV002289913	1523	Q>*	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs61750151 CA227217 VAR_012579 RCV000085655	1525	L>P	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227218 VAR_008456 RCV000210286 RCV001002827 RCV001075849 RCV000623715 RCV001542561 RCV000177509 RCV000085656 rs61750152	1526	T>M	Variant assessed as Somatic; 0.0 impact. Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa 19 Inborn genetic diseases Retinal dystrophy Retinitis pigmentosa 19 (rp19) STGD1; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis [NCI-TCGA, ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001535669 RCV001074286 RCV000177510 rs62642574 RCV001002826 VAR_008457 CA227219 RCV000085657	1532	D>N	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1557770154 CA341284630 RCV001199616 RCV000761666	1533	F>S	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001352951 rs1659998657	1537	T>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_012580 CA227222 COSM913446 RCV000408504 RCV000085659 rs62642575 RCV001002608	1537	T>M	Variant assessed as Somatic; 0.0 impact. endometrium Severe early-childhood-onset retinal dystrophy STGD1; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1557770132 RCV000779002 RCV001385239	1541	L>*	ABCA4-Related Disorders [ClinVar]	Yes	ClinVar dbSNP
RCV001199617 rs1659954489	1545	S>*	Cone dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs886044745 RCV000408489	1547	K>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_085016	1551	W>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV001073458 rs1659953619	1552	V>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA341284162 RCV001220523 rs1385119665 RCV001075014 VAR_085017	1556	R>T	Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar dbSNP gnomAD UniProt
rs1659914711 RCV001075794	1558	G>R	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1659914654 RCV001073886	1559	G>E	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA341284056 RCV000787501 rs1571258567	1560	I>N	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000407014 VAR_008458 RCV001005005 RCV000335992 CA227226 rs1762111 RCV000408556 RCV000787502 RCV000787778 RCV000314956 RCV000505175 RCV002509209 RCV000085664	1562	I>T	Cone-rod dystrophy 3 (cord3) ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinitis Pigmentosa, Recessive Retinal dystrophy Cone-rod dystrophy STGD1, FFM, ARMD2 and CORD3; found in a patient with bull's eye maculopathy; unknown pathological significance [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001869182 CA957512 RCV000786954 rs377398404	1566	L>F	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001073247 rs185093512 RCV002483586 RCV000591844 VAR_084934 CA957502	1572	T>M	Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002554693 RCV001074009 rs1340989734	1574	E>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA341283909 RCV002524408 rs1553188682 RCV000504799	1576	L>R	Variant assessed as Somatic; impact. Severe early-childhood-onset retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs771574413 CA957496 RCV002532641 RCV000596354	1577	V>A	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000085667 VAR_008459 rs1800551 CA227230	1578	G>R	ARMD2 [UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1571258440 RCV000986356	1579	F>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs777415466 RCV000408448 CA957495 RCV000761665	1580	L>S	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000085669 RCV001376269 rs61750153 CA227233	1583	L>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002505662 rs767980304 RCV001359813 RCV001073758 CA957489	1589	V>M	Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000408525 RCV000285181 RCV000504993 rs113106943 RCV000376503 RCV000323858 CA233403 RCV000381856 RCV000416254 RCV001073617 VAR_084935	1591	G>R	Macular degeneration Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Retinal dystrophy Stargardt Disease, Recessive Cone dystrophy STGD1; also found in a patient with macular dystrophy; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001091944 RCV001199619 rs1659902823	1596	R>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001074177 RCV001257846 RCV001002825 RCV000408465 RCV000085674 VAR_012581 rs61750155 RCV001808326 CA227239	1598	A>D	Autosomal recessive retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa 19 Retinal dystrophy CORD3 and STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs61752438 RCV000085676 RCV000999644 RCV001074975	1613	D>missing	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA341283565 rs1265079301 RCV000787503 RCV000787767 CA341283566	1614	N>K	Stargardt disease [ClinVar]	Yes	ClinGen TOPMed gnomAD ClinVar dbSNP
RCV001324843 rs1659893621 RCV001074707	1617	V>M	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000085678 CA227244 rs61752439 RCV001074325	1618	W>*	Variant assessed as Somatic; 0.0 impact. Retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001216794 RCV001074894 rs61752439 RCV001002824 CA957438	1618	W>C	Stargardt disease Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA341283189 RCV000489654 RCV001353028 rs1085307968	1625	H>Y	Retinitis pigmentosa 19 Retinitis pigmentosa 19 (rp19) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001232685 RCV001073887 rs763911476	1627	L>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_008460 CA227250 RCV000085681 rs61750158	1631	L>P	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1571257937 RCV002267745	1632	N>missing	Cone-rod dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001074062 VAR_012582 CA227251 RCV001197832 RCV000085682 rs61754056	1637	A>T	Age related macular degeneration 2 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA227254 RCV000321118 rs61751403 VAR_012583 RCV003223338 RCV000787505 RCV000504816 RCV000085684	1640	R>Q	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy STGD1, FFM and CORD3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs61751404 CA227253 RCV000505114 RCV000787504 VAR_008461 RCV000210311 RCV002505017 RCV000408519 RCV000085683	1640	R>W	Severe early-childhood-onset retinal dystrophy Leber congenital amaurosis Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy STGD1 and CORD3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000340669 rs114518437 RCV001075649 RCV000393458 RCV000486564 RCV000353628 RCV001101750 RCV000301076 CA957429	1642	S>I	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs61753017 CA227255 RCV000986355 RCV000787506 RCV001075879 RCV001311640 RCV000085685	1642	S>R	Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinVar dbSNP ClinGen ExAC TOPMed gnomAD
RCV000342279 RCV000283357 RCV000289750 RCV001101749 CA10611704 rs886046563 RCV000393464 RCV001812786	1649	P>S	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_084938	1650	E>del	CORD3; unknown pathological significance [UniProt]	Yes	UniProt
VAR_008462 rs61750560 RCV000085687 CA227258	1652	Y>D	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_084939	1652	Y>del	STGD1 and FFM; unknown pathological significance [UniProt]	Yes	UniProt
rs1659888526 RCV001352944	1653	G>E	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001074175 rs758912686	1656	V>F	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs886044746 RCV000408473 CA10602425 RCV001002822	1660	P>L	Severe early-childhood-onset retinal dystrophy Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA341282967 RCV001724300 RCV001379165 RCV001353015 rs1211325812	1660	P>S	Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1571257754 RCV000986354	1671	I>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001101748 rs1659886244	1673	V>A	ABCA4-Related Disorders [ClinVar]	Yes	ClinVar dbSNP
RCV001075364 rs753489583	1676	T>P	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001073450 CA957387 rs753489583	1676	T>S	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_012584	1681	V>del	STGD1; highly reduced ATP-binding capacity [UniProt]	Yes	UniProt
RCV000085693 RCV002498457 RCV001073680 RCV000986352 rs62646872	1682	V>missing	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61753019 CA227268 COSM1344991 RCV001099771 RCV001073381 RCV000085694 RCV000986353	1686	V>M	ABCA4-Related Disorders large_intestine Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001002821 rs1571256775	1687	I>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
rs201996979 RCV001247223 CA957380 RCV001073357	1687	I>F	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000085695 VAR_012585 CA227270 rs61753020 RCV000408570	1689	S>P	Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD
RCV000085696 RCV002470765 rs61750563 RCV001073371 VAR_012586 CA227271 RCV002255285	1693	V>I	Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1659843027 RCV001075214	1694	P>T	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_008463 rs61750564 RCV000408469 RCV002490743 CA227272 RCV000085697	1696	S>N	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 STGD1; unknown pathological significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000504832 rs1435203678 CA341282739	1696	S>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_085018 RCV000085698 rs61750565 CA227273	1703	Q>E	STGD1; unknown pathological significance; does not affect solubility; does not affect location in cytoplasmic vesicle;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_008464	1703	Q>K	STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity [UniProt]	Yes	UniProt
RCV000085699 RCV000408542 CA227275 rs61753021 VAR_012587	1705	R>L	Severe early-childhood-onset retinal dystrophy STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_085019 CA957375 rs61753021	1705	R>Q	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000994038 RCV002267624 rs771038310 CA957376 RCV000779001 RCV001199620 COSM1344990 RCV001074860	1705	R>W	ABCA4-Related Disorders large_intestine Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy Retinal dystrophy [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA10610445 RCV000329287 RCV001230666 RCV000387503 RCV000381826 RCV000290726 rs886046562 RCV001099769	1707	N>K	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000408584 RCV001854785 rs374343397 CA957371	1713	Q>K	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001269029 rs1659840790 RCV001577463 RCV001073820	1713	Q>R	Cone-rod dystrophy 3 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000408474 rs886044732 CA10602424	1718	V>G	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs61750566 RCV001073781 RCV000085702 RCV000301420	1721	T>missing	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001002820 CA341282564 rs1437993640 RCV001388592	1723	Y>*	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000785053 RCV001204682 rs1557767754 CA341282557 RCV001353013	1724	W>*	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1557767754 VAR_067428 RCV001862516 RCV001073715	1724	W>C	Retinal dystrophy ARMD2 [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
VAR_084940	1724	W>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV001196665 rs1057518955 RCV000414893 RCV001268822 RCV001074613	1726	T>missing	Age related macular degeneration 2 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_008465 rs61750567 RCV001074107 CA227279 RCV000085703	1729	L>P	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA10602423 rs886044747 RCV001075418 RCV000408479 RCV001002819	1730	W>*	Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001367092 rs765563320 VAR_012588 RCV001199634 CA957346	1733	M>T	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1659721337 RCV001075413	1735	Y>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA227286 rs61750568 RCV000085710 VAR_012589	1736	S>P	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001074353 RCV000085712 rs61750569	1741	L>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs61753025 RCV000085714 VAR_012590 CA227290	1748	G>R	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_084941	1754	Y>D	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
CA957331 RCV001228065 RCV002563129 rs779399010	1758	E>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA16603704 RCV001073276 RCV000430778 rs1057520212	1761	P>R	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1454355504 RCV001099766	1761	P>T	ABCA4-Related Disorders [ClinVar]	Yes	ClinVar dbSNP
VAR_012591	1761	P>del	STGD1; highly reduced ATP-binding capacity [UniProt]	Yes	UniProt
RCV000008368 CA119142 RCV000008367 VAR_084942 rs121909206	1762	A>D	Cone-rod dystrophy 3 (cord3) Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 STGD1; unknown pathological significance [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000085718 rs61753028 VAR_012592 CA227295 RCV000408587	1763	L>P	Severe early-childhood-onset retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001074718 RCV000593363 rs1553188071	1764	V>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA341281554 rs1195430987 RCV001308734 RCV001074557	1770	Y>D	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA26842500 RCV001353043 RCV001366508 rs374015407	1771	G>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA957303 RCV000505104 rs776757706	1772	W>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA227298 rs61750571 RCV001074187 RCV001723668 RCV001352958 RCV000787509 RCV000085721	1772	W>*	Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000826133 RCV002485455 RCV001074401 VAR_084944 RCV000441041 CA957302 COSM1580382 RCV000408555 rs760549861	1773	A>V	Variant assessed as Somatic; 0.0 impact. Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease haematopoietic_and_lymphoid_tissue Retinal dystrophy STGD1; unknown pathological significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity [NCI-TCGA, ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_085020 rs771742619 CA957300 RCV001344272	1775	I>N	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1553187939 CA341281507 RCV000497807 VAR_012593	1776	P>L	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001450679 RCV001199622 rs375184282 RCV001352943 CA957299	1777	M>L	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1571253050 RCV001002816	1778	M>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs748706582 CA10588919 RCV001859496 RCV000256375	1778	M>K	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000085723 RCV001074056 CA227301 RCV000085724 CA227303 rs61750573	1779	Y>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes dbSNP gnomAD
VAR_085022	1779	Y>H	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_085021	1779	Y>del	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000778999 RCV000994036 RCV000008373 rs121909207 RCV001073346 CA340713 VAR_012594	1780	P>A	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA957294 RCV001002815 rs746252741	1784	L>R	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA10602419 RCV000408463 rs886044751	1788	P>L	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1659672463 RCV001352984	1793	V>M	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000408516 RCV000504739 RCV000085725 RCV000677343 VAR_008466 CA227304 rs61751406	1794	A>D	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; also found in a patient with bull's eye maculopathy; unknown pathological significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001035476 CA341281397 VAR_085023 rs1571252997 RCV001002814	1794	A>P	Stargardt disease STGD1; unknown pathological significance; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases solubility below 50%; significantly reduces N-Ret-PE binding in the absence of ATP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002479263 rs1188515677 RCV001270350 CA341281392 RCV001040976	1795	L>V	Retinitis pigmentosa Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001257847 rs786205445 RCV000171154	1797	C>*	Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
VAR_012595 RCV001075012 RCV000085726 rs61750574 CA227305	1799	N>D	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_012596 rs61753029 CA227306 RCV001352967 RCV000085727 RCV001199290 RCV001074166	1805	N>D	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1659670972 RCV001074773	1806	S>R	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA227307 rs62646875 VAR_008467 RCV000085728	1820	R>P	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA341281191 rs1326929680 RCV001097979	1824	R>T	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA957240 rs530098237 RCV003160620 RCV001097978	1827	A>T	ABCA4-Related Disorders Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000085734 RCV000786006 CA227313 rs62642562 RCV000408577 VAR_085024	1838	H>D	Severe early-childhood-onset retinal dystrophy Stargardt disease STGD1; unknown pathological significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; decreases modestly N-Ret-PE-stimulated ATPase [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_084945 rs62642562 CA10602418 RCV000408514	1838	H>N	Severe early-childhood-onset retinal dystrophy STGD1; unknown pathological significance; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases basal ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs886044752 RCV001854787 CA10602417 RCV000408470	1838	H>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA227315 RCV001075475 rs62642562 VAR_008468 RCV000085735	1838	H>Y	Retinal dystrophy STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs1297857869 CA341281100 RCV000505135	1839	F>S	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs946348819 RCV001862588 RCV001075020	1840	C>S	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_008469 RCV000085736 CA227316 rs62642576	1843	R>W	Variant assessed as Somatic; 0.0 impact. STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; does not affect N-Ret-PE binding [NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ESP NCI-TCGA TOPMed dbSNP gnomAD
rs1571250020 RCV000787511	1843	R>missing	Cone-rod dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001097977 rs1659540392	1845	L>F	ABCA4-Related Disorders [ClinVar]	Yes	ClinVar dbSNP
rs61750575 RCV000085737 RCV003152681 VAR_008494 CA227317	1846	I>T	Cone-rod dystrophy 3 STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs377311148 CA244968 RCV000296428 RCV000790718	1850	L>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10602416 RCV000408565 rs886044753	1853	A>D	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001199623 rs374687000 RCV001075607 CA957223 RCV000585492	1854	V>L	Retinal dystrophy Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs371489809 RCV002289547 CA957222 RCV002480281 RCV000421632	1858	Y>N	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001074087 rs1659538743	1861	F>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001075630 rs1659538637 RCV001564605	1862	G>S	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA957198 rs201707267 RCV001097976 RCV001480493	1865	H>Y	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1801466 CA202869 RCV000178424 RCV001197336 RCV000348932 RCV000293913 VAR_008470 RCV001723669 RCV001262623 RCV001002812 RCV001352969 RCV000391356 RCV001352965 RCV001353019 RCV000309306 RCV001097975 RCV001352973 RCV001353024 RCV000085744 RCV000721173	1868	N>I	Macular degeneration Retinitis pigmentosa ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Retinitis pigmentosa (rp) STGD1; slightly reduced retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; does not affect N-Ret-PE binding [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000408480 RCV001323218 CA957194 rs376925793	1869	P>L	Variant assessed as Somatic; 0.0 impact. Severe early-childhood-onset retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000388273 RCV000373095 CA10611624 RCV000278480 rs886046560 RCV001097974 RCV000352195	1870	F>L	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001097973 CA957187 RCV001511155 rs374811709	1880	F>L	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs369973540 RCV001257849	1881	A>G	Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
CA957186 rs369973540 RCV002471022 RCV001096234 RCV001058803	1881	A>V	ABCA4-Related Disorders Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000431853 CA957183 VAR_084946 CA957184 rs752160946	1882	M>I	CORD3; unknown pathological significance [UniProt]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar UniProt dbSNP
CA957185 RCV001198724 rs780817685	1882	M>T	Age related macular degeneration 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs62642578 CA227327 VAR_012598 RCV000085746	1884	V>E	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs62642563 CA227328 VAR_012599 RCV000085747	1885	E>K	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs62642579 CA227329 VAR_008471 RCV001075174 RCV000085748	1886	G>E	Retinal dystrophy STGD1; highly reduced ATP-binding capacity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000408529 rs886044754 CA10602415	1886	G>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001055571 RCV002249662 rs1659524475	1887	V>missing	Age related macular degeneration 2 [ClinVar]	Yes	ClinVar dbSNP
rs61750635 RCV000085749 VAR_008472	1890	F>missing	STGD1 [UniProt]	Yes	ClinVar UniProt dbSNP
rs61750635 VAR_008472	1890	F>del	STGD1 [UniProt]	Yes	UniProt dbSNP
VAR_012600 CA227332 RCV000085751 rs61750636	1896	V>D	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD
rs1659522195 RCV001353046	1897	Q>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001296443 RCV001352990 rs771092150	1897	Q>H	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001075015 CA227333 RCV000085752 RCV002470766 RCV001196150 RCV000408593 RCV001002804 rs1800552 VAR_008473 RCV000787764 RCV000623966 RCV000778998 RCV000787513	1898	R>H	Retinitis pigmentosa ABCA4-Related Disorders Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy Inborn genetic diseases Retinitis pigmentosa (rp) STGD1 and ARMD2; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; Increases N-Ret-PE binding [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1659472146 RCV001073351	1907	A>F	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001096231 rs1394332810 CA341280488	1913	P>T	ABCA4-Related Disorders [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1659469884 RCV001353012	1921	V>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_084947	1921	V>G	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs61753032 RCV000085760 VAR_012601 CA227341	1921	V>M	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs757449019 RCV001075543 CA957122	1925	R>G	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341280337 RCV001199625 rs1208195953 RCV000994034	1925	R>I	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA26837296 rs757462382 RCV001075443	1931	G>S	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000008370 RCV000008372 RCV000008371 VAR_012602 rs61753033 CA119145 RCV000085762	1940	L>P	Cone-rod dystrophy 3 (cord3) Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease STGD1 and FFM [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001002811 RCV002549192 RCV001073274 rs1161119501 CA341280140	1941	H>P	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_085026 CA957117 RCV001862615 RCV001075476 rs760353830	1942	E>Q	Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001308733 CA10602414 RCV000408589 rs886044755	1943	L>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000085768 rs56142141 RCV000339604 RCV001096228 RCV000379050 RCV001195781 VAR_008474 RCV000211880 RCV000375640 CA285822 RCV000284620	1948	P>L	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Age related macular degeneration 2 Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1659452428 RCV001073375	1949	G>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000505149 RCV002247269 VAR_008475 RCV000008341 RCV000078670 RCV001731281 RCV000624210 RCV000678513 RCV001807001 RCV000787514 CA119132 RCV001542557 RCV001254602 RCV000504952 rs1800553 RCV000273328 RCV000786006 RCV001258239 RCV000008339 RCV000008340	1961	G>E	Retinitis pigmentosa MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Cone-rod dystrophy 3 Inborn genetic diseases Retinitis pigmentosa (rp) Cone-rod dystrophy 3 (cord3) ABCA4-Related Disorders Joubert syndrome 5 (jbts5) Age related macular degeneration 2 Joubert syndrome 5 Severe early-childhood-onset retinal dystrophy Stargardt disease Cone-rod dystrophy Retinitis pigmentosa 19 Retinal dystrophy STGD1, FFM and CORD3; also found patients with cone dystrophy and with macular dystrophy; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001229952 CA957094 rs142253670 RCV000778996 RCV000408510 VAR_084948	1961	G>R	Variant assessed as Somatic; 0.0 impact. ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy STGD1; unknown pathological significance [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs28938473 RCV000259062 VAR_008476 CA119133 RCV000008346 RCV000778995 RCV001073250 RCV000085773 RCV000408598 RCV000787515	1970	L>F	ABCA4-Related Disorders Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy ARMD2, FFM and STGD1; also found in a patient with cone dystrophy [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000408495 rs886044756 CA10602413	1970	L>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs61753034 VAR_012603 CA119134 RCV000085774 RCV000008347	1971	L>R	Stargardt disease FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1659430629 RCV001199626	1971	L>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
RCV001073313 rs1659430143	1972	G>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000504777 RCV001807040 RCV001002810 rs61751389 RCV001257850 RCV001542556 RCV000678514 RCV000085776 RCV000408561	1972	G>*	Autosomal recessive retinitis pigmentosa Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy Cone-rod dystrophy Retinitis pigmentosa 19 [ClinVar]	Yes	ClinVar dbSNP
rs61753036 CA227356 RCV000085777 VAR_012604	1975	G>R	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1659429594 RCV001353016	1975	G>V	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001075660 rs61750639	1977	G>R	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000085778 RCV001075771 CA227357 rs61750639 VAR_008477 RCV001002809	1977	G>S	Retinitis pigmentosa Retinal dystrophy STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000486602 rs1064793014 RCV000504970 CA16617200 RCV002248696 RCV002250633	1978	K>E	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA341279617 RCV001073524 rs1571247308 RCV000994033	1979	T>A	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA227358 RCV000408461 RCV000085779 rs61753037	1979	T>I	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001197194 CA10602412 RCV000408493 rs752147871	1981	T>R	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA341279552 rs1259778135 RCV001209734 RCV001074320	1984	M>R	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001101665 RCV000313207 CA10611697 RCV000367905 RCV000371279 RCV000276774 rs886046559	1985	L>F	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1659427600 RCV001242691 RCV002504344	1986	T>*	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
CA957058 RCV002546973 rs777300047 RCV001342849	1987	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1659426620 RCV001196636	1993	S>missing	Age related macular degeneration 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001036259 CA957054 rs147870733 RCV001074223 COSM1238087	1998	V>I	oesophagus Retinal dystrophy [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000986348 CA341279239 rs1170554250	2003	I>F	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000591450 rs201883531 RCV002532642 CA26835484	2014	M>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_084949	2017	C>Y	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084950 rs150633517 CA957033 RCV001323217	2023	I>T	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001002808 rs1571245809	2026	L>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
RCV000480932 CA10602410 rs886044758 RCV000763439 RCV000408446	2026	L>P	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001074885 VAR_008478 RCV002247268 CA119129 RCV000085785 RCV000008333 RCV000008332 RCV000763438 RCV000826132 rs61751408	2027	L>F	Cone-rod dystrophy 3 (cord3) Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy STGD1 and FFM; also found in a patient with chorioretinal atrophy; highly reduced ATP-binding capacity [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_008480 RCV000178545 RCV000787516 RCV001074874 CA227366 RCV000085787 RCV000763436 RCV001002805 RCV000787517 RCV001197157 rs61750641 RCV000408532 RCV000787766	2030	R>Q	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Progressive cone dystrophy (without rod involvement) Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy STGD1 and FFM [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000763437 RCV000505162 RCV001542555 RCV000008365 RCV000787773 RCV000504794 COSM2260581 CA119140 VAR_084951 rs61751383 RCV002512903 RCV000085786	2030	R>missing	Variant assessed as Somatic; 0.0 impact. large_intestine Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy, early-onset severe STGD1 and CORD3; unknown pathological significance Retinitis pigmentosa 19 Retinal dystrophy ABCA4 retinoapthy [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs61751383 VAR_084951	2030	R>del	STGD1 and CORD3; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
rs1659353934 RCV002557915 RCV001074609	2031	E>K	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA341279008 RCV001075791 VAR_084952 rs1242866408 RCV001235229	2032	H>R	Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV001074505 rs183398940 RCV001366334 CA26835427	2032	H>Y	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000504985 CA341278997 rs1553186896	2033	L>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA341278996 RCV000504619 RCV000787518 VAR_084953 rs1553186896	2033	L>R	Stargardt disease Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_012605 RCV000085788 rs61750642 CA227367	2035	L>P	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA10581649 RCV000225521 rs878853398	2036	Y>C	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1659353253 RCV001075215	2037	A>V	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs767729255 CA341278940 RCV001029767	2038	R>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002250614 rs767729255 CA957026 RCV000291561	2038	R>Q	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA227368 VAR_008495 rs61750643 RCV001073850 RCV000408458 RCV000085789	2038	R>W	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1; highly reduced ATP-binding capacity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA227369 VAR_084954 RCV001073783 RCV000085790 RCV000787772 RCV000763435 RCV002283455 rs61753038	2040	R>missing	STGD1; found in a patient with chorioretinal atrophy; unknown pathological significance Variant assessed as Somatic; 0.0 impact. Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy [UniProt, NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA232815 rs148460146 COSM913442 RCV000986347 RCV001073482 RCV000132592 VAR_084955 RCV001542554	2040	R>Q	endometrium Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 STGD1; unknown pathological significance [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_084954 rs61753038	2040	R>del	STGD1; found in a patient with chorioretinal atrophy; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
rs1462350577 RCV002548492 RCV001352992 CA341278911	2041	G>D	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_084956	2042	V>G	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084957 rs763230559 CA341278891	2043	P>S	CORD3; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_067429	2047	I>N	ARMD2 [UniProt]	Yes	UniProt
RCV001250529 RCV001174687 rs1659351261	2049	K>missing	Severe early-childhood-onset retinal dystrophy Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
RCV000408516 RCV000285333 RCV000259072 rs41292677 RCV000504806 RCV001075661 RCV000008335 CA220688 RCV000778139 RCV000787769 RCV002470704 RCV000393726 RCV000340261 VAR_008481 RCV000393715 RCV000078671	2050	V>L	Macular degeneration Retinitis pigmentosa ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis Pigmentosa, Recessive Retinal dystrophy Cone dystrophy Stargardt Disease, Recessive Retinitis pigmentosa (rp) STGD1 and CORD3; may act as a modifier of macular dystrophy in patients who also have a Trp-172 mutation in PRPH2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000085791 RCV001075765 CA227371 RCV001266587 rs61750644	2056	K>*	Inborn genetic diseases Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002490744 VAR_012607 RCV000085792 CA227373 rs61753039	2060	L>R	Cone-rod dystrophy 3 CORD3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs61753040 CA956992 VAR_084958	2064	A>T	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs1362964563 RCV001073480 CA341278309	2064	A>V	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002554772 RCV001075768 rs1659197672	2070	T>Q	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs62642580 RCV001074168	2071	Y>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_012608	2071	Y>F	STGD1 [UniProt]	Yes	UniProt
RCV000986346 rs1571243037	2074	G>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001262439 RCV001234782 VAR_085028 RCV002051899 RCV000850519 rs367839100 RCV001074418 CA956985	2074	G>V	Cone-rod dystrophy 3 (cord3) Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinal dystrophy STGD1; unknown pathological significance [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD
rs1553186509 RCV000504998 CA341278240	2076	K>E	Congenital stationary night blindness [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001074057 VAR_012609 CA227379 RCV000085796 rs61750645	2077	R>G	Cone-rod dystrophy 3 (cord3) Retinal dystrophy STGD1 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000408478 CA10602409 RCV002516246 rs886044759	2077	R>Q	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA227380 VAR_008482 RCV001770079 rs61750645 RCV001004998 RCV000085797 RCV000504630 RCV000787519 RCV000402409	2077	R>W	Cone-rod dystrophy 3 (cord3) Variant assessed as Somatic; 0.0 impact. Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Retinal dystrophy STGD1; highly reduced ATP-binding capacity; decreases solubility at 50 %; loss of intracellular vesicle localization; drastically reduced basal activity with little or no substrate stimulation [Ensembl, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD
VAR_084959	2078	K>E	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000658512 rs951379922 CA26832584 RCV000787011	2078	K>Q	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000085798 rs281865382 RCV001073616 RCV000986345	2080	S>missing	Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1250914690 RCV001061360 RCV001074596 CA341278195 COSM215778	2084	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system Retinal dystrophy [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000085804 rs61750646 CA227386 VAR_008483	2096	E>K	Variant assessed as Somatic; 0.0 impact. STGD1; inhibition of ATP hydrolysis by retinal [NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_084960 rs1166357291 CA341277622	2097	P>S	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
rs61750648 RCV000085806 RCV000408484 CA227388 RCV001075529 VAR_008484	2106	R>C	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 and FFM; reduced ATP-binding capacity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1057520213 RCV000432926 RCV001074499 CA16044110	2106	R>H	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_012610 RCV001380601 CA956906 rs2297669 RCV001074913 RCV000787520	2107	R>C	Variant assessed as Somatic; 0.0 impact. Stargardt disease Retinal dystrophy STGD1; found in a patient with bull's eye maculopathy; unknown pathological significance [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000291062 RCV000408534 RCV000505080 CA227389 rs62642564 COSM913440 RCV000391457 VAR_008485 RCV001099680 RCV000085807 RCV000345905 RCV001074412 RCV001352953 RCV000391460	2107	R>H	Macular degeneration ABCA4-Related Disorders large_intestine endometrium Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Retinal dystrophy STGD1 and CORD3; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001352983 rs1659159979	2108	M>RH	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs886044761 RCV001055307 CA10602407 RCV000408599	2109	L>P	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs62642565 RCV000504640 CA227392 RCV000085809	2110	W>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001349297 RCV002547491 rs571031879 CA956902	2112	V>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA956899 rs202127235 RCV001099679 RCV000389153 RCV001424033 RCV000349548 RCV000294673 RCV000315923 COSM913439	2114	V>M	Macular degeneration ABCA4-Related Disorders large_intestine endometrium Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001075347 CA341277438 rs1303289867 RCV001322658	2127	S>F	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_008486 rs61750651 RCV000085815 CA227399	2128	H>R	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs1571242070 RCV002249614 RCV002267744 RCV001321279 CA341277427	2129	S>N	Age related macular degeneration 2 Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs61750652 RCV000085817 RCV001074273 VAR_008487 CA227401	2131	E>K	Retinal dystrophy STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_067430	2137	C>Y	ARMD2 [UniProt]	Yes	UniProt
RCV000319805 CA10611614 RCV001099678 RCV000280073 RCV001380600 RCV000264727 RCV000374572 rs761867791	2139	R>P	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs61750653 CA227402 VAR_008488 RCV000085818	2139	R>W	Variant assessed as Somatic; 0.0 impact. STGD1 [NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_084961 rs774475956 CA956877	2140	L>Q	STGD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs1659153516 RCV001353009	2143	M>K	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA227403 RCV000085819 rs61753044 VAR_012611	2146	G>D	CORD3 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
COSM198602 rs966835207 RCV002556017 RCV001099677 CA26831527	2147	A>T	Variant assessed as Somatic; 0.0 impact. ABCA4-Related Disorders large_intestine [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs61750654 RCV000505094 RCV000414922 RCV000085820 CA227404 COSM1688047 RCV000132593	2149	R>*	Macular degeneration Variant assessed as Somatic; 0.0 impact. large_intestine skin Severe early-childhood-onset retinal dystrophy Retinal dystrophy [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs61750655 VAR_012612 RCV000085821 CA227406	2149	R>L	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA227407 VAR_012613 rs61750656 RCV000085822	2150	C>R	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000408531 RCV000085823 VAR_008489 RCV001074378 rs61751384 CA227408	2150	C>Y	Severe early-childhood-onset retinal dystrophy Retinal dystrophy STGD1 and CORD3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001196664 rs1057518954 RCV001075340 RCV000415368 CA16043371	2151	M>I	Age related macular degeneration 2 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA341277276 rs1571241947 RCV000787523	2152	G>C	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001075341 rs1659152504	2152	G>V	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1373168392 RCV001858637 RCV000986344	2158	K>missing	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1571241930 RCV000787524 CA341277220	2160	K>E	Stargardt disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs281865405 CA227409 VAR_008490 RCV000085824	2160	K>R	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001073382 CA26829093 rs940867738 RCV001862498	2165	Y>C	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1659061509 RCV001074316	2171	I>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA10602406 rs886044762 RCV001854788 RCV000408595	2172	K>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001099675 RCV000268191 RCV000085827 rs1800555 RCV000008336 RCV000362825 RCV000323169 VAR_008491 CA119130 RCV000359301 RCV000243384	2177	D>N	Macular degeneration ABCA4-Related Disorders MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive CORD3, ARMD2 and STGD1; unknown pathological significance; increased retinal-stimulated ATP hydrolysis [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000085829 RCV001002806 rs61750658 VAR_084962 CA227415	2188	F>S	Stargardt disease STGD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000085834 CA227422 rs61753045 RCV000408488	2203	Y>*	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10602405 RCV000408559 RCV001378637 VAR_012614 rs886044763	2216	A>V	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000408450 RCV001352970 CA227425 RCV000085837 RCV000504742 rs61753046	2220	Q>*	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone dystrophy Retinitis pigmentosa 19 (rp19) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
VAR_084963	2221	L>P	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
rs61750659 CA227432 VAR_012615 RCV000085842 RCV001075761	2229	L>P	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_084964	2237	T>P	STGD1; unknown pathological significance [UniProt]	Yes	UniProt
RCV000408503 rs886044764 CA10602404	2238	Q>R	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001073878 rs779585931 CA956820 RCV001371824	2240	T>A	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA227439 rs61748521 RCV000085848 VAR_012616 RCV001075235	2241	L>V	Retinal dystrophy STGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001353004 rs1658995249	2244	V>E	Severe early-childhood-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV002505018 RCV000336644 RCV000178683 CA202970 RCV000340209 RCV000376116 VAR_009157 RCV000281600 RCV000085855 rs6666652 RCV001097882	2255	S>I	Macular degeneration ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Cone-rod dystrophy 3 Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive benign variant [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA227444 RCV000085856 VAR_012617 rs281865407	2263	R>L	STGD1 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001856321 RCV001097881 RCV002489742 CA956787 rs372234578	2269	R>*	ABCA4-Related Disorders Cone-rod dystrophy 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001097880 rs202223056 RCV001366536 RCV001073721 CA956786	2269	R>Q	ABCA4-Related Disorders Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1658918432 RCV001269028	2274	D>R	Cone-rod dystrophy 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000316791 rs886041554	1	M>I		No	ClinVar dbSNP
rs764311517 COSM913477 CA958980	2	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA958981 rs751669641	2	G>R		No	ClinGen ExAC gnomAD
CA341289001 rs1439937348	3	F>S		No	ClinGen gnomAD
rs369852553 CA26845241	4	V>M		No	ClinGen ESP TOPMed
rs1028516438 CA26845240	6	Q>E		No	ClinGen TOPMed
CA958979 rs754924450	7	I>L		No	ClinGen ExAC TOPMed
CA341288892 rs1308464856	7	I>M		No	ClinGen gnomAD
rs376675803 CA958978	8	Q>K		No	ClinGen ESP ExAC gnomAD
rs1131691262 RCV000494201 CA341288694	13	K>E		No	ClinGen ClinVar Ensembl dbSNP
CA958977 rs371304323	13	K>R		No	ClinGen ESP ExAC gnomAD
rs62645956 RCV000085600	13	K>missing		No	ClinVar dbSNP
CA958975 rs767182574	16	T>A		No	ClinGen ExAC gnomAD
RCV001347841 CA26845223 rs949028237	16	T>I		No	ClinGen ClinVar dbSNP gnomAD
rs1322362097 CA341288613	17	L>P		No	ClinGen gnomAD
CA26845219 rs868543294	18	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs746232022 CA958969	21	Q>P		No	ClinGen ExAC gnomAD
rs201387193 CA26842873	23	I>N		No	ClinGen 1000Genomes
rs756045993 CA958942	23	I>V		No	ClinGen ExAC gnomAD
rs62645942 RCV001062719	24	R>G		No	ClinVar dbSNP
CA958941 rs757050873	25	F>S		No	ClinGen ExAC
CA958939 rs763727710	27	V>M		No	ClinGen ExAC
rs146663678 CA958938	29	L>F		No	ClinGen ESP ExAC gnomAD
CA958936 RCV000585071 rs202127496	30	V>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA341286761 rs1193865484	31	W>R		No	ClinGen TOPMed
CA341286731 rs1428504985	32	P>L		No	ClinGen TOPMed gnomAD
rs760036995 CA958935	32	P>T		No	ClinGen ExAC gnomAD
rs1447289166 CA341286724	33	L>*		No	ClinGen TOPMed
rs771350693 CA958932	38	V>L		No	ClinGen ExAC gnomAD
RCV001051277 rs761112891	40	I>F		No	ClinVar dbSNP
CA341286599 rs1404664758	40	I>M		No	ClinGen TOPMed
rs772400085 CA958929	40	I>N		No	ClinGen ExAC gnomAD
CA958930 rs772400085	40	I>T		No	ClinGen ExAC gnomAD
CA958931 rs761112891	40	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748357067 CA958928 RCV000596465 RCV001000881	41	W>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs368503198 CA958927	45	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001341271 rs368503198	45	A>V		No	ClinVar dbSNP
rs4847281 RCV000085396	47	P>=		No	ClinVar dbSNP
CA341286481 rs143207212	47	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1570434341 CA341286453	48	L>P		No	ClinGen Ensembl
rs1252712183 CA341286414	50	S>R		No	ClinGen TOPMed gnomAD
rs941059389 CA26842836 RCV001036847	52	H>D		No	ClinGen ClinVar TOPMed dbSNP
CA341286332 rs764744217	53	E>*		No	ClinGen ExAC gnomAD
RCV001325383 rs1662652110	53	E>V		No	ClinVar dbSNP
rs749959652 CA26842495	55	H>Y		No	ClinGen Ensembl
rs747766711 CA958903	56	F>S		No	ClinGen ExAC gnomAD
rs778422185 CA958902	57	P>A		No	ClinGen ExAC gnomAD
rs754713440 CA958901	57	P>L		No	ClinGen ExAC gnomAD
RCV001237282 rs750987349 CA958898	61	M>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1394943055 CA341285604	61	M>L		No	ClinGen TOPMed
rs1388219872 CA341285580	64	A>V		No	ClinGen gnomAD
rs1662604844 RCV001207246	65	G>R		No	ClinVar dbSNP
rs62654395 COSM1667716 CA958897	65	G>V	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA958896 rs762081422	66	M>K		No	ClinGen ExAC gnomAD
rs997726534 CA26842474	73	I>T		No	ClinGen TOPMed
CA341285515 rs1264338576	75	C>Y		No	ClinGen TOPMed
rs61748527 CA341285499	77	V>A		No	ClinGen gnomAD
rs148529158 CA958892	78	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1256178077 RCV001244854 CA341285477	80	P>L		No	ClinGen ClinVar TOPMed dbSNP
CA958890 rs747878343	81	C>*		No	ClinGen ExAC gnomAD
CA341285468 rs1473980302	82	F>L		No	ClinGen TOPMed
RCV000085482 rs61748528	83	Q>missing		No	ClinVar dbSNP
TCGA novel	83	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000085483 rs61751390	84	S>missing		No	ClinVar dbSNP
CA958889 rs778817150	84	S>I		No	ClinGen ExAC gnomAD
CA341285435 rs1463176839	86	T>I		No	ClinGen gnomAD
rs1452638406 CA341285433	87	P>A		No	ClinGen TOPMed
rs754554866 CA958888	88	G>R		No	ClinGen ExAC gnomAD
rs865925787 CA26842454 COSM1684843	91	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	92	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341285394 rs1386926864	93	I>T		No	ClinGen TOPMed
CA341285387 rs1382695024	94	V>A		No	ClinGen TOPMed
CA341285381 rs1312265858	95	S>T		No	ClinGen TOPMed
CA341285322 rs575809706	99	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA958884 rs575809706	99	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA341285316 rs1380689567	99	N>S		No	ClinGen gnomAD
rs1390936521 CA341285266	101	I>T		No	ClinGen gnomAD
rs1054538871 CA26895942	102	L>F		No	ClinGen gnomAD
CA341293244 rs1167101620	103	A>T		No	ClinGen gnomAD
TCGA novel	104	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	104	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1570430907 CA341293228	105	V>G		No	ClinGen Ensembl
CA26895916 rs765429911	107	R>G		No	ClinGen ExAC TOPMed gnomAD
CA958863 rs759799179 COSM913475	107	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
RCV000085561 rs61748531	110	Q>missing		No	ClinVar dbSNP
TCGA novel	111	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26895876 rs558671490	114	M>I		No	ClinGen Ensembl
CA341293174 rs774358118	114	M>L		No	ClinGen ExAC TOPMed gnomAD
CA958857 rs768544956	114	M>T		No	ClinGen ExAC gnomAD
CA958858 rs774358118	114	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1203433117 CA341293123	121	H>Y		No	ClinGen gnomAD
rs1344635783 CA341293117	122	L>I		No	ClinGen gnomAD
rs138359497 CA341293104	124	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769541140 CA958854	124	R>H		No	ClinGen ExAC TOPMed gnomAD
CA341293103 rs769541140	124	R>P		No	ClinGen ExAC TOPMed gnomAD
CA341293083 rs1438605451	127	T>S		No	ClinGen gnomAD
rs780523124 CA958852	129	L>I		No	ClinGen ExAC gnomAD
RCV001059878 rs1662505763	130	H>missing		No	ClinVar dbSNP
CA958851 rs770491448	131	I>N		No	ClinGen ExAC gnomAD
CA26895844 rs770491448	131	I>T		No	ClinGen ExAC gnomAD
CA26895843 rs910086291	132	L>F		No	ClinGen Ensembl
rs1372134179 CA341293025	136	M>V		No	ClinGen gnomAD
CA341293017 rs1308282008	137	D>N		No	ClinGen gnomAD
CA958850 rs747410807	138	T>N		No	ClinGen ExAC gnomAD
rs983831765 CA26895828	139	L>F		No	ClinGen TOPMed
rs369105023 RCV000994048 CA341292997	140	R>P		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs369105023 CA958848	140	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173809441 CA341292998	140	R>W		No	ClinGen TOPMed gnomAD
rs1085307835 CA341292987 RCV000489512	142	H>Y		No	ClinGen ClinVar dbSNP gnomAD
CA341292958 rs1280893607	146	I>T		No	ClinGen TOPMed gnomAD
rs755152303 CA958845	146	I>V		No	ClinGen ExAC gnomAD
TCGA novel	149	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448232035 CA341291461	149	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1570426448 CA341291441	150	G>R		No	ClinGen Ensembl
CA958829 rs62646862	152	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143476180 CA958827	153	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA958828 rs755348328	153	I>T		No	ClinGen ExAC gnomAD
rs1662330621 RCV001233700	153	I>V		No	ClinVar dbSNP
CA341291342 RCV000994047 rs1570426424 RCV001199618	155	D>N		No	ClinGen ClinVar Ensembl dbSNP
rs953605928 CA26891117	157	L>*		No	ClinGen Ensembl
TCGA novel	157	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341291210 rs767738064	159	D>E		No	ClinGen ExAC gnomAD
TCGA novel	159	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000483659 rs1064793005 CA16617212 COSM255382	160	E>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1475168753 CA341291178	160	E>D		No	ClinGen gnomAD
CA227240 rs62645943 RCV000085675	161	E>K		No	ClinGen ClinVar dbSNP gnomAD
rs758365569 CA958823	161	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1348309841 CA341290995	170	N>Y		No	ClinGen gnomAD
RCV001218197 CA958820 rs765059735	171	I>F		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA26891012 rs112673455	179	Y>C		No	ClinGen Ensembl
RCV001046624 rs1662327014	179	Y>H		No	ClinVar dbSNP
rs760281123 CA958817	180	L>F		No	ClinGen ExAC gnomAD
rs772735093 CA958816 COSM913472	187	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs202198282 RCV001091619 CA958815	187	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1361607044 CA341290580	189	E>A		No	ClinGen TOPMed
rs1311605384 CA341290566	190	Q>R		No	ClinGen TOPMed
rs374454045	191	F>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA26887153 rs146117175	193	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA958795 rs146117175	193	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA958796 rs761305962 COSM397124	193	H>Y	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs780256905 CA26887152	194	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1206857720 CA341289772	195	V>F		No	ClinGen gnomAD
RCV000658517 CA958794 rs769176363	196	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA958792 RCV001055315 rs142985501	197	D>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA958791 rs142985501	197	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	198	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA958790 rs746039623	199	A>T		No	ClinGen ExAC gnomAD
CA26887091 rs1040637568	201	K>T		No	ClinGen TOPMed
rs754899561 CA958785	204	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV001233770 rs1662214905	205	C>F		No	ClinVar dbSNP
CA341289703 rs1301209205	206	S>N		No	ClinGen gnomAD
CA341289708 rs1401738025	206	S>R		No	ClinGen gnomAD
CA958782 rs147807073 COSM913471 RCV001039283	207	E>K	Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs147807073 CA958783 RCV001337630	207	E>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341289680 rs1472185490	209	L>F		No	ClinGen gnomAD
CA341289643 rs61750200	212	R>S	Cone-rod dystrophy 3 (cord3) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs751029989 RCV001044720 CA958781	213	F>Y		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341289602 rs1255085574	214	I>F		No	ClinGen gnomAD
rs1662213265 RCV001351757	214	I>N		No	ClinVar dbSNP
CA958780 rs763537540	215	I>V		No	ClinGen ExAC gnomAD
CA341289575 rs1320363264	216	F>L		No	ClinGen TOPMed gnomAD
CA958779 rs763461421	216	F>S		No	ClinGen ExAC gnomAD
rs61748537 CA26886951	219	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_084850	219	R>del	found in a patient with chorioretinal atrophy; unknown pathological significance [UniProt]	No	UniProt
CA958778 rs193009561	220	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA958775 rs377637509	221	G>E		No	ClinGen ESP ExAC gnomAD
CA958776 RCV001232361 rs777187728	221	G>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs61748539 RCV000254978	222	A>missing		No	ClinVar dbSNP
rs63749056 RCV000085838	223	K>missing		No	ClinVar dbSNP
rs63749082 RCV000085841	223	K>missing		No	ClinVar dbSNP
RCV000085840 rs63749081	223	K>missing		No	ClinVar dbSNP
rs61751417 RCV000085847	224	T>missing		No	ClinVar dbSNP
rs373540612 CA958773 RCV001057895 COSM33409 VAR_035736	224	T>M	breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA958768 rs149780335	226	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA958766 rs144310835 RCV000481221	226	R>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA341289405 rs1557803637	227	Y>D		No	ClinGen Ensembl
rs370024777 CA958765	228	A>S		No	ClinGen ESP ExAC gnomAD
CA341289374 COSM1688063 rs1367618229	228	A>V	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA958764 rs763596438	230	C>*		No	ClinGen ExAC gnomAD
RCV001340774 CA341289331 rs1425185788	231	S>F		No	ClinGen ClinVar dbSNP gnomAD
CA958763 rs757844726	232	L>F		No	ClinGen ExAC TOPMed gnomAD
CA26886812 rs28479617	232	L>P		No	ClinGen Ensembl
CA958761 rs765644429	233	S>F		No	ClinGen ExAC gnomAD
RCV001211044 CA341289276 rs1330135890	234	Q>*		No	ClinGen ClinVar TOPMed dbSNP
CA958760 rs760157843	235	G>S		No	ClinGen ExAC
CA958759 rs777091662	236	T>N		No	ClinGen ExAC gnomAD
CA341289212 rs1206183260	237	L>P		No	ClinGen gnomAD
rs1356104318 CA341289207	238	Q>E		No	ClinGen gnomAD
CA26886792 rs755733328	239	W>S		No	ClinGen gnomAD
rs895125518 CA26886790	240	I>V		No	ClinGen Ensembl
rs1247343379 CA341289122	241	E>K		No	ClinGen gnomAD
rs62645949 RCV000085860	244	L>missing		No	ClinVar dbSNP
CA26886749 rs74601638	245	Y>C		No	ClinGen Ensembl
rs1557803559 CA341289005	246	A>D		No	ClinGen Ensembl
RCV000085863 CA227453 rs62645950	247	N>I		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA958754 rs774537777	248	V>A		No	ClinGen ExAC gnomAD
CA958755 rs200719724	248	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341288915 rs1161233650	250	F>I		No	ClinGen gnomAD
rs1459168634 CA341288898	250	F>L		No	ClinGen gnomAD
CA341288869 rs1167524755	251	F>C		No	ClinGen gnomAD
CA958753 rs146365399	251	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA26886691 rs1048048328	252	K>N		No	ClinGen Ensembl
CA227456 RCV000085865 rs62645952	255	R>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1265780497 CA341288698	256	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA958727 rs780691922 RCV001071700	258	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1187040111 CA341285223	260	L>F		No	ClinGen gnomAD
rs756734589 CA958726	260	L>H		No	ClinGen ExAC gnomAD
rs750721834 CA958725	263	S>T		No	ClinGen ExAC gnomAD
rs767947718 CA958724	264	R>C		No	ClinGen ExAC gnomAD
CA958723 rs567985213	264	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764368214 CA958721 COSM913468	266	Q>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1384022583 CA341285137	267	G>S		No	ClinGen TOPMed
CA958720 rs763010473	268	I>V		No	ClinGen ExAC gnomAD
rs375393316 CA958719	269	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA341285100 rs1338260475	269	N>S		No	ClinGen gnomAD
CA958718 rs770829495	270	L>V		No	ClinGen ExAC gnomAD
rs1388510409 CA341285064	273	W>L		No	ClinGen gnomAD
TCGA novel	273	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26873397 rs189325931	274	G>V		No	ClinGen 1000Genomes
TCGA novel	275	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747686223 RCV001325392 CA958714	276	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1409094931 CA341285040	277	L>S		No	ClinGen gnomAD
rs61748543 RCV000085870	278	S>missing		No	ClinVar dbSNP
rs1318221915 CA341284979	278	S>F		No	ClinGen TOPMed
rs1435664229 CA958712	279	D>N		No	ClinGen TOPMed
CA958710 rs768480500	280	M>T		No	ClinGen ExAC TOPMed gnomAD
rs886042320 RCV000321829	284	I>missing		No	ClinVar dbSNP
CA341284878 rs886041951	285	Q>E		No	ClinGen TOPMed gnomAD
CA958707 rs779751177	285	Q>P		No	ClinGen ExAC gnomAD
CA341284872 rs779751177	285	Q>R		No	ClinGen ExAC gnomAD
rs952061844 CA26873325	286	E>D		No	ClinGen TOPMed
TCGA novel	286	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370632634 CA958706	286	E>V		No	ClinGen ESP ExAC gnomAD
rs1433672534 CA341284528	288	I>S		No	ClinGen TOPMed
TCGA novel	288	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745437293 CA958687	289	H>Y		No	ClinGen ExAC gnomAD
rs959119236 RCV001246016 CA26870876	290	R>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA341284506 rs1206512560	292	S>I		No	ClinGen gnomAD
CA341284502 rs1303995370	293	M>V		No	ClinGen gnomAD
rs794727903 RCV000180146 CA203573	294	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA341284488 rs1042772588	294	Q>H		No	ClinGen TOPMed gnomAD
CA341284480 rs1553194068 RCV000513495	295	D>E		No	ClinGen ClinVar Ensembl dbSNP
CA341284460 rs1347198803	298	W>C		No	ClinGen TOPMed
CA26870788 rs1005920303	299	V>M		No	ClinGen Ensembl
CA958682 CA958683 rs142076270	301	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430282501 CA341284436	303	L>V		No	ClinGen gnomAD
RCV001035836 rs755078118 CA958680	304	M>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA958679 rs755078118	304	M>V		No	ClinGen ExAC gnomAD
rs753920327 RCV001352255 CA958678	307	G>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1026256692 CA26870752	308	G>D		No	ClinGen Ensembl
CA341284403 rs1476928511	308	G>S		No	ClinGen TOPMed gnomAD
CA958677 rs542603262	309	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA227469 COSM1503864 rs61753055 RCV000085875	310	E>Q	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs911073778 CA26870745	313	T>I		No	ClinGen TOPMed gnomAD
CA341284370 rs911073778	313	T>K		No	ClinGen TOPMed gnomAD
rs986641166 CA26870728	315	L>V		No	ClinGen TOPMed
rs775277234 CA958674	316	M>I		No	ClinGen ExAC TOPMed gnomAD
rs762627400 CA958675	316	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1308641693 CA341284331	320	S>T		No	ClinGen TOPMed gnomAD
CA958671 rs745364081	321	D>E		No	ClinGen ExAC TOPMed gnomAD
CA341284319 rs1409497477	322	L>I		No	ClinGen gnomAD
rs1661666701 RCV001091617	323	L>missing		No	ClinVar dbSNP
rs771431962 CA958669	324	C>F		No	ClinGen ExAC gnomAD
rs1370413025 CA341284291	326	Y>C		No	ClinGen TOPMed
CA958667 rs778049752	327	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA958665 rs61751418	328	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1199849243 RCV001268172	329	G>*		No	ClinVar dbSNP
rs1199849243 CA341284247	329	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA341284224 rs1472081651	330	G>C		No	ClinGen gnomAD
RCV000085880 CA227478 rs61753058	330	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA958664 rs755202002	331	G>S		No	ClinGen ExAC TOPMed gnomAD
CA958663 rs753921901	332	S>P		No	ClinGen ExAC gnomAD
CA958662 rs142231757 RCV001206019	333	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341284165 rs1570408124	334	V>G		No	ClinGen Ensembl
CA341284171 rs1208713389	334	V>L		No	ClinGen TOPMed gnomAD
CA341284172 rs1208713389	334	V>M		No	ClinGen TOPMed gnomAD
rs1057520668 CA16603803 RCV000438989 RCV001865329	335	L>F		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA16603798 rs1057522235 RCV000431390	338	N>S		No	ClinGen ClinVar Ensembl dbSNP
CA341284118 rs776269194	340	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1191143782 RCV001297313 CA341284121	340	Y>S		No	ClinGen ClinVar TOPMed dbSNP
CA341284093 rs1392115832	343	N>S		No	ClinGen gnomAD
RCV001214153 rs1661663019	345	Y>D		No	ClinVar dbSNP
RCV000085370 CA226862 rs61751422	346	K>*		No	ClinGen ClinVar Ensembl dbSNP
rs764915204 CA958659	347	A>P		No	ClinGen ExAC TOPMed
rs764915204 CA341284003	347	A>S		No	ClinGen ExAC TOPMed
rs764915204 CA341284007	347	A>T		No	ClinGen ExAC TOPMed
CA958658 rs369165289	347	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	350	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26870474 COSM106408 rs144575154	350	G>R	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA341283922 rs1456527211	352	D>E		No	ClinGen TOPMed gnomAD
CA958656 RCV001352433 rs577385550	352	D>N		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA341283894 rs1268616305	354	T>I		No	ClinGen TOPMed
CA26870428 rs1035193409	355	R>K		No	ClinGen TOPMed gnomAD
CA341283885 rs1035193409	355	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
RCV000085372 CA226866 rs61751391	356	K>*		No	ClinGen ClinVar Ensembl dbSNP
rs747446152 CA958655	358	P>H		No	ClinGen ExAC
rs1160846575 CA341283822	359	I>V		No	ClinGen gnomAD
rs1661660701 RCV001225568	361	S>missing		No	ClinVar dbSNP
rs748487419 CA958653	361	S>C		No	ClinGen ExAC TOPMed gnomAD
rs748487419 CA958652 RCV000658515	361	S>Y		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1661659953 RCV001207770	362	Y>C		No	ClinVar dbSNP
RCV001338699 rs1661659757	363	D>N		No	ClinVar dbSNP
COSM174707 CA958650 rs768881855	365	R>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA341283734 rs1244319420	365	R>S		No	ClinGen TOPMed gnomAD
CA341283732 rs1208590733	366	T>A		No	ClinGen TOPMed gnomAD
CA958649 rs749494322	366	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	369	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA958629 rs745913851	370	C>G		No	ClinGen ExAC gnomAD
rs781456296 CA958628	371	N>K		No	ClinGen ExAC gnomAD
CA958627 rs758365467	373	L>F		No	ClinGen ExAC gnomAD
rs188540377 CA26869176	375	Q>*		No	ClinGen 1000Genomes
rs139650730 CA958626	376	S>N		No	ClinGen ESP ExAC
CA958625 rs778706938	380	N>H		No	ClinGen ExAC gnomAD
rs1157062089 CA341283447	381	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs753720666 RCV001326428 CA958624	385	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs770754513 CA341283416	386	A>P		No	ClinGen ExAC TOPMed gnomAD
rs770754513 CA958622	386	A>S		No	ClinGen ExAC TOPMed gnomAD
rs770754513 CA958621	386	A>T		No	ClinGen ExAC TOPMed gnomAD
rs767034759 CA958620	386	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762323426 CA958619	388	R>K		No	ClinGen ExAC TOPMed gnomAD
CA958618 rs201263774 RCV001209196	389	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA26869075 rs1043337703	390	A>V		No	ClinGen Ensembl
rs561739905 CA26869074	391	K>N		No	ClinGen Ensembl
CA958616 rs763206214	394	L>P		No	ClinGen ExAC gnomAD
CA958614 rs61783978 CA26869029	395	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs878885399 CA26869037	395	M>V		No	ClinGen Ensembl
CA26869013 rs866219294	396	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	398	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	398	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776798532 CA958612	398	I>V		No	ClinGen ExAC gnomAD
CA341283336 rs1227986044	399	L>P		No	ClinGen gnomAD
rs1661624556 RCV001322001	400	Y>H		No	ClinVar dbSNP
CA958610 rs559674920	401	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341283320 rs1281131866	402	P>S		No	ClinGen gnomAD
CA958608 rs150686179	404	S>*		No	ClinGen ESP ExAC gnomAD
rs749008843 RCV001226473 CA958607	405	P>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA958605 rs755715955	406	A>T		No	ClinGen ExAC gnomAD
CA341283294 rs1169001202	407	A>T		No	ClinGen TOPMed gnomAD
CA958604 rs766946915	408	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370828649 CA341283286	409	R>G		No	ClinGen gnomAD
RCV001309548 CA958603 rs267598778	409	R>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA958602 rs751128744	410	I>V		No	ClinGen ExAC gnomAD
RCV001054466 rs1661623028	411	L>P		No	ClinVar dbSNP
CA958600 rs763545409	413	N>D		No	ClinGen ExAC gnomAD
RCV001308939 rs763545409 CA341283260	413	N>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA341282500 RCV000585333 rs1553193893	414	A>D		No	ClinGen ClinVar Ensembl dbSNP
rs1279729551 CA341282496	415	N>D		No	ClinGen gnomAD
rs765907001 CA958580	418	F>L		No	ClinGen ExAC gnomAD
CA341282459 rs1453981156	420	E>G		No	ClinGen gnomAD
CA26868081 rs138044729	423	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA226878 RCV000085382 rs3112831	423	H>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM913465 RCV000591736 rs138044729 CA958578	423	H>Y	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA958577 rs773118252	424	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1442874024 CA341282433	425	R>G		No	ClinGen gnomAD
CA341282431 rs1218530733	425	R>K		No	ClinGen TOPMed
rs762811617 CA958575	428	V>A		No	ClinGen ExAC gnomAD
rs762811617 RCV001313349	428	V>D		No	ClinVar dbSNP
rs540424205 CA958574	430	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA341282374 rs1213348615	433	E>G		No	ClinGen gnomAD
rs948132728 CA26867936	435	G>R		No	ClinGen Ensembl
CA26867929 rs920723783	435	G>V		No	ClinGen TOPMed
rs745630457 CA958573	438	I>V		No	ClinGen ExAC gnomAD
CA341282333 rs61752391	439	W>C		No	ClinGen ExAC TOPMed gnomAD
RCV000085387 CA226884 rs61752392	442	F>S		No	ClinGen ClinVar Ensembl dbSNP
CA341282294 rs1269417340	445	S>R		No	ClinGen TOPMed
CA958571 rs746685896	446	T>A		No	ClinGen ExAC gnomAD
rs61748553 RCV000085389	447	Q>*		No	ClinVar dbSNP
CA958570 RCV000388365 rs777078540	448	M>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA341282274 rs1169850759 RCV001063057	448	M>V		No	ClinGen ClinVar TOPMed dbSNP
rs1421657735 CA341282253	450	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1570405590 CA341282212	453	D>V		No	ClinGen Ensembl
CA958534 rs776623078	456	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766282109 CA958533	457	N>K		No	ClinGen ExAC gnomAD
RCV001312580 rs1661579247	457	N>S		No	ClinVar dbSNP
rs1175552999 CA341282159	462	D>N		No	ClinGen gnomAD
CA26866986 rs755226781	463	F>L		No	ClinGen Ensembl
RCV000085394 rs61748555	464	L>missing		No	ClinVar dbSNP
CA341282125 rs1417847158	466	R>M		No	ClinGen TOPMed
rs747255603 CA26866969	466	R>S		No	ClinGen gnomAD
rs1661578607 RCV001247431	467	Q>*		No	ClinVar dbSNP
rs771814374 CA958530	467	Q>R		No	ClinGen ExAC gnomAD
rs1661578472 RCV001247429	469	G>C		No	ClinVar dbSNP
CA341282105 rs1418139129	469	G>D		No	ClinGen gnomAD
rs1661578472 RCV001230260	469	G>R		No	ClinVar dbSNP
TCGA novel	469	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs886044578 CA10606932 RCV000370853	470	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
CA958529 rs773943744	473	I>V		No	ClinGen ExAC gnomAD
RCV001234376 rs1661578005	474	T>missing		No	ClinVar dbSNP
rs756629422 CA958524	483	Y>C		No	ClinGen ExAC gnomAD
CA26866893 rs142362763	485	G>S		No	ClinGen ESP TOPMed
rs145614671 CA26866870	487	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA958523 RCV001228013 rs369286283	487	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs934402550 CA26866862	489	S>C		No	ClinGen Ensembl
rs757411893 CA958521	491	A>P		No	ClinGen ExAC
CA341281965 rs1336011415	491	A>V		No	ClinGen TOPMed gnomAD
rs541850518 CA958520	493	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	494	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1570405411 CA341281944	494	M>T		No	ClinGen Ensembl
CA958518 rs377135053 RCV001214023	494	M>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs752765416 CA958517 COSM682649	495	A>D	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	495	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26866821 rs865814549	495	A>T		No	ClinGen Ensembl
CA341281931 rs1439777150	496	N>S		No	ClinGen gnomAD
rs750836609 CA341281919	498	D>H		No	ClinGen ExAC TOPMed gnomAD
rs750836609 CA239472 RCV000173997	498	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA958514 rs767437562	500	R>G		No	ClinGen ExAC TOPMed gnomAD
CA341281903 rs1204946868	500	R>K		No	ClinGen gnomAD
rs768480888 CA341281896	501	D>G		No	ClinGen ExAC TOPMed gnomAD
rs774145384 CA958513	501	D>N		No	ClinGen ExAC TOPMed gnomAD
CA958512 rs768480888	501	D>V		No	ClinGen ExAC TOPMed gnomAD
rs748809920 CA958511	502	I>M		No	ClinGen ExAC gnomAD
rs141208724 CA26866741	502	I>V		No	ClinGen ESP
rs62645953 RCV000085397	503	F>missing		No	ClinVar dbSNP
rs774893612 CA958510	503	F>L		No	ClinGen ExAC gnomAD
RCV000085398 rs281865398	504	N>*		No	ClinVar dbSNP
RCV000592564 CA341281880 rs1243753206	504	N>H		No	ClinGen ClinVar dbSNP gnomAD
rs202008219 CA341281871	505	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202008219 CA958509	505	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148234178 CA958508	507	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1580385 rs375961838 CA958505	508	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs375961838 CA958506	508	R>L		No	ClinGen ExAC TOPMed gnomAD
CA341281853 rs138157885	508	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs62646867 RCV000085399	510	L>missing		No	ClinVar dbSNP
RCV001338697 CA958503 rs758584771	510	L>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs886039299 CA10588303 RCV000256040	510	L>P		No	ClinGen ClinVar TOPMed dbSNP
CA341281844 rs758584771	510	L>V		No	ClinGen ExAC TOPMed gnomAD
rs750393418 CA958499 RCV001304833	513	V>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341281822 rs750393418	513	V>G		No	ClinGen ExAC TOPMed gnomAD
CA958500 rs756023611	513	V>I		No	ClinGen ExAC gnomAD
rs372838089 CA341281796	515	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372838089 RCV001062737 CA958497	515	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1276585268 CA341280666	520	L>S		No	ClinGen gnomAD
CA958473 rs752286972	523	D>G		No	ClinGen ExAC gnomAD
CA341280644 rs1570394071 RCV000994045	524	K>E		No	ClinGen ClinVar Ensembl dbSNP
RCV000085403 CA226901 rs62646869	525	F>L		No	ClinGen ClinVar Ensembl dbSNP
CA341280636 rs1390212030	525	F>L		No	ClinGen gnomAD
rs1661180926 RCV001229773	526	E>A		No	ClinVar dbSNP
rs1484756902 CA341280619	527	S>N		No	ClinGen TOPMed
rs1399299284 CA341280613	528	Y>H		No	ClinGen gnomAD
CA958469 rs145718830 RCV001045652	531	E>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1023123094 CA26848655	532	T>I		No	ClinGen TOPMed
CA341280561 rs1440695680	533	Q>R		No	ClinGen TOPMed
rs1179786548 CA341280500	538	A>D		No	ClinGen gnomAD
CA958463 rs749347970	543	E>K		No	ClinGen ExAC gnomAD
CA341280402 rs1278553281	545	N>K		No	ClinGen gnomAD
rs780313752 CA958462	545	N>S		No	ClinGen ExAC gnomAD
TCGA novel	546	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148391873 RCV001315802 CA958461	546	M>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1034579541 CA26848617	548	W>*		No	ClinGen Ensembl
rs61748557 CA341280344	549	A>S		No	ClinGen gnomAD
RCV001203017 CA958458 rs141864243	552	V>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA226916 RCV000085415 rs61752396	553	F>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1156983103 CA341280304	553	F>Y		No	ClinGen gnomAD
CA341280291 rs1380991789	554	P>S		No	ClinGen gnomAD
CA341280275 rs1179239331	555	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1038826469 CA26848579	556	M>L		No	ClinGen TOPMed gnomAD
CA26848576 rs113789195	557	Y>H		No	ClinGen Ensembl
TCGA novel	562	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA958457 rs754652550	563	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1455968367 CA341280133	564	P>L		No	ClinGen TOPMed
CA341280155 rs1557787783	564	P>S		No	ClinGen Ensembl
rs761105591 CA26848560	566	H>D		No	ClinGen ExAC
rs761105591 CA958454	566	H>N		No	ClinGen ExAC
CA26848556 rs943713680	566	H>P		No	ClinGen Ensembl
CA958452 rs768129542	566	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA958450 rs774819519	567	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	570	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768720923 CA958449	570	K>N		No	ClinGen ExAC gnomAD
CA26848535 rs529824865	571	I>S		No	ClinGen Ensembl
rs1557787756 CA341280062 RCV001002843 RCV000760305	572	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1286420049 CA341280038	575	I>L		No	ClinGen gnomAD
rs1557787747 CA341280030	575	I>T		No	ClinGen Ensembl
CA958446 rs547063913	577	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1402650470 CA341279970	580	K>E		No	ClinGen gnomAD
rs1181535777 CA341279943	582	N>D		No	ClinGen gnomAD
rs978828559 CA26848508	584	I>N		No	ClinGen Ensembl
RCV000504763 rs1553192682 CA341279878	586	D>G		No	ClinGen ClinVar Ensembl dbSNP
CA26848281 rs972888328	588	Y>F		No	ClinGen gnomAD
TCGA novel	590	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755803987 CA958423	594	R>G		No	ClinGen ExAC gnomAD
rs1200739827 CA341279758	594	R>T		No	ClinGen TOPMed
RCV001316552 rs1661166511	596	D>Y		No	ClinVar dbSNP
RCV001227334 rs1661166046	598	V>missing		No	ClinVar dbSNP
CA341279709 rs201838557	598	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs61752397 CA341279687	600	D>N		No	ClinGen ExAC gnomAD
rs61752397 RCV000085426 CA226929	600	D>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA226934 rs61749411 RCV000085430	604	I>S		No	ClinGen ClinVar Ensembl dbSNP
rs147932486 CA958419 RCV001314291	606	G>D		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA226938 rs61752398 RCV000085433	608	F>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341279583 rs61752398	608	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000085434 CA226940 rs61752399	608	F>Y		No	ClinGen ClinVar Ensembl dbSNP
CA958416 rs771051333	610	Y>*		No	ClinGen ExAC gnomAD
CA958415 rs760735952	611	L>P		No	ClinGen ExAC gnomAD
rs1175334072 CA341279525	613	D>N		No	ClinGen gnomAD
CA958412 rs749053239	614	M>L		No	ClinGen ExAC TOPMed gnomAD
rs749053239 CA958413	614	M>V		No	ClinGen ExAC TOPMed gnomAD
rs374931400 RCV001302981 CA958411	615	V>F		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341279496 rs374931400	615	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA26848136 rs374931400	615	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557787457 CA341279467	617	Q>E		No	ClinGen Ensembl
CA958409 rs745549366	617	Q>H		No	ClinGen ExAC gnomAD
rs769283184 CA958410 RCV001234549	617	Q>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000085436 CA226943 rs61751394	618	G>E		No	ClinGen ClinVar Ensembl dbSNP
CA341279443 rs1231688819	619	I>F		No	ClinGen gnomAD
CA341279445 rs1231688819	619	I>V		No	ClinGen gnomAD
CA958408 rs780772475	620	T>I		No	ClinGen ExAC gnomAD
CA958407 rs141122703	621	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs751079871 CA958406	621	R>K		No	ClinGen ExAC gnomAD
CA341279383 rs1202066198	623	Q>H		No	ClinGen gnomAD
CA341279389 rs1233316727	623	Q>R		No	ClinGen TOPMed
rs878853396 CA341279369	625	Q>E		No	ClinGen gnomAD
rs1223304524 CA341279353	626	A>P		No	ClinGen gnomAD
COSM913462 CA958405 rs778392569	626	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA341279327 rs753058962	628	A>P		No	ClinGen ExAC gnomAD
rs753058962 CA958404	628	A>T		No	ClinGen ExAC gnomAD
CA26848044 rs1057212368	628	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA341279323 rs1200070789	629	P>A		No	ClinGen TOPMed
rs765707190 CA958403	629	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1464323794 CA341279316	630	V>F		No	ClinGen gnomAD
CA341279310 rs1360564195	631	G>V		No	ClinGen gnomAD
rs61749413 RCV000085438	632	I>missing		No	ClinVar dbSNP
rs1570393144 CA341279297	633	Y>S		No	ClinGen Ensembl
rs1037595939 CA26848027	634	L>H		No	ClinGen TOPMed
rs1176267143 CA341279285	635	Q>R		No	ClinGen gnomAD
rs1440824352 CA341279264	638	P>H		No	ClinGen gnomAD
RCV001349168 rs1440824352	638	P>L		No	ClinVar dbSNP
rs754088610 CA958401 COSM913461 RCV001199602	638	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1570393097 RCV001317912	639	Y>C		No	ClinVar dbSNP
rs1570393097 CA341279258	639	Y>S		No	ClinGen Ensembl
CA958399 rs760790294	640	P>H		No	ClinGen ExAC gnomAD
rs766570903 CA958400	640	P>T		No	ClinGen ExAC gnomAD
RCV001057427 rs1661159038	641	C>R		No	ClinVar dbSNP
rs1421487671 CA341279178	641	C>W		No	ClinGen TOPMed
rs61749416 CA341279182	641	C>Y		No	ClinGen TOPMed
RCV001340688 rs61749417	643	V>L		No	ClinVar dbSNP
CA958397 rs61749418	645	D>Y		No	ClinGen ExAC gnomAD
COSM913460 rs548888187 CA958396	646	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA958379 RCV001065022 rs770565005	648	M>I		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	648	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459874784 CA341278977	648	M>V		No	ClinGen gnomAD
rs374458630 CA958378 RCV001044698	649	I>F		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341278950 rs1557786421	650	I>F		No	ClinGen Ensembl
CA341278922 rs1463298297	652	N>S		No	ClinGen TOPMed gnomAD
RCV001298146 rs1661100332	654	C>R		No	ClinVar dbSNP
rs779455131 CA958376	656	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA341278862 rs199590367	657	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1226435882 CA341278856	657	I>T		No	ClinGen gnomAD
COSM682654 rs199590367 CA958374	657	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1661099730 RCV001212178	659	M>I		No	ClinVar dbSNP
rs1375584794 CA341278827	659	M>T		No	ClinGen TOPMed
rs1315758729 CA341278832	659	M>V		No	ClinGen gnomAD
rs1011974288 CA26846593	660	V>M		No	ClinGen Ensembl
CA341278788 rs1218846489	662	A>E		No	ClinGen TOPMed gnomAD
rs1218846489 CA341278789	662	A>V		No	ClinGen TOPMed gnomAD
rs61749421 CA226966 RCV000085453	663	W>*		No	ClinGen ClinVar Ensembl dbSNP
CA341278776 rs767782886	664	I>N		No	ClinGen ExAC gnomAD
CA958370 rs767782886	664	I>T		No	ClinGen ExAC gnomAD
CA26846556 rs867526388	668	S>F		No	ClinGen Ensembl
rs1243342093 CA341278754	668	S>P		No	ClinGen TOPMed gnomAD
rs545963645 CA958368 CA26846532	669	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1037340485 CA26846545	669	M>V		No	ClinGen Ensembl
rs377508857 CA958367	672	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1052151674 CA26846520	673	S>N		No	ClinGen gnomAD
CA958366 RCV001052492 rs759410405	674	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP
TCGA novel	677	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001057961 CA341278685 rs1376036671	678	K>N		No	ClinGen ClinVar dbSNP gnomAD
rs760611542 CA958363	679	E>D		No	ClinGen ExAC gnomAD
RCV001312083 rs1661097693	680	L>missing		No	ClinVar dbSNP
CA341278677 rs1557786317	680	L>M		No	ClinGen Ensembl
RCV001343773 CA958361 rs761380652	681	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_084883	681	R>del	found in a patient with macular dystrophy; unknown pathological significance [UniProt]	No	UniProt
rs1259726208 CA341278626	688	N>H		No	ClinGen TOPMed gnomAD
rs1557786289 RCV001348632 CA341278623	688	N>I		No	ClinGen ClinVar Ensembl dbSNP
rs1259726208 CA341278625	688	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs942734318 RCV001230392 CA26846450	690	G>D		No	ClinGen ClinVar Ensembl dbSNP
rs749772656 CA958358	690	G>R		No	ClinGen ExAC gnomAD
TCGA novel	693	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA958357 rs780400907	693	N>S		No	ClinGen ExAC gnomAD
CA958356 rs770140944 RCV001065023	694	A>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000085460 CA226976 rs61749424	697	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs746279613 CA958355	698	C>S		No	ClinGen ExAC gnomAD
CA341278559 rs1398785943	698	C>Y		No	ClinGen TOPMed
TCGA novel	699	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1057519142 RCV000415897 CA16043781	699	T>N		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	703	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341278500 rs766854135	706	S>C		No	ClinGen ExAC gnomAD
CA958353 rs766854135	706	S>F		No	ClinGen ExAC gnomAD
rs1332429382 CA341278499	707	I>L		No	ClinGen gnomAD
rs753711353 CA958349 RCV001065132	708	M>I		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs754874649 CA958350	708	M>K		No	ClinGen ExAC gnomAD
rs147051178 CA341278492	708	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA341278490 rs754874649	708	M>T		No	ClinGen ExAC gnomAD
rs147051178 CA958351	708	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs267598777 CA958347 CA958346	710	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA26846354 rs267598776	711	S>C		No	ClinGen Ensembl
CA341278463 rs1557786222	712	I>T		No	ClinGen Ensembl
rs1239889663 CA341278459	713	F>L		No	ClinGen gnomAD
CA341278441 rs1441572907	716	T>A		No	ClinGen gnomAD
CA341278435 rs1345184930	717	I>V		No	ClinGen TOPMed gnomAD
CA958344 rs768056773	719	I>L		No	ClinGen ExAC gnomAD
COSM1688058 CA958342 rs775836570	720	M>I	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA958343 rs762593392	720	M>V		No	ClinGen ExAC TOPMed gnomAD
CA341278153 rs1361244275	723	R>G		No	ClinGen gnomAD
rs765683730 CA958323	725	L>P		No	ClinGen ExAC gnomAD
rs765683730 CA341278121	725	L>R		No	ClinGen ExAC gnomAD
CA341278125 rs1570387627	725	L>V		No	ClinGen Ensembl
TCGA novel	726	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA16617210 RCV000481017 rs1064793007	728	S>G		No	ClinGen ClinVar Ensembl dbSNP
CA341278075 RCV000513309 rs776910485	728	S>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs771277298 CA958320	729	D>N		No	ClinGen ExAC gnomAD
CA341278058 rs559433489	730	P>L		No	ClinGen TOPMed
CA26844234 rs559433489	730	P>R		No	ClinGen TOPMed
CA341278035 rs772380617	734	F>L		No	ClinGen ExAC TOPMed gnomAD
rs772380617 CA958317	734	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1570387558 CA341278013 RCV001001301	737	L>*		No	ClinGen ClinVar Ensembl dbSNP
CA26844216 rs200277065	738	L>F		No	ClinGen 1000Genomes TOPMed gnomAD
CA341278003 rs1292586798	739	A>T		No	ClinGen gnomAD
rs1019525186 CA26844212	742	T>A		No	ClinGen Ensembl
rs201242928 CA26844206	742	T>I		No	ClinGen 1000Genomes gnomAD
rs1276613701 CA341277971	744	T>S		No	ClinGen gnomAD
RCV001306945 rs1660994402	746	M>K		No	ClinVar dbSNP
RCV000658514 rs1293462383 CA341277959	746	M>V		No	ClinGen ClinVar TOPMed dbSNP
TCGA novel	748	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220683379 CA341277930	750	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1064793008 RCV000483929 CA16617209	750	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA26844195 rs1801369 VAR_014703	752	S>I		No	ClinGen UniProt Ensembl dbSNP
CA341277913 rs1570387508	753	T>P		No	ClinGen Ensembl
CA26844186 rs375943659 CA341277901	754	F>L		No	ClinGen ESP TOPMed
rs1274302295 CA341277907	754	F>L		No	ClinGen gnomAD
rs1660993598 RCV001313714	755	F>V		No	ClinVar dbSNP
RCV001064069 CA958313 rs372508062	756	S>F		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	761	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61752403 RCV000085468	763	A>*		No	ClinVar dbSNP
RCV001242492 rs1660985683	765	S>K		No	ClinVar dbSNP
CA341277833 RCV001199604 RCV001860547 rs61749429	765	S>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1325382938 CA341277825	766	G>V		No	ClinGen gnomAD
CA26844128 RCV001174686 rs946594091 RCV001873649	768	I>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA958311 rs751408792	769	Y>F		No	ClinGen ExAC gnomAD
CA341277806 rs1478578782	770	F>L		No	ClinGen gnomAD
RCV001062310 rs1660985145	770	F>L		No	ClinVar dbSNP
CA958309 rs758090662	771	T>P		No	ClinGen ExAC TOPMed gnomAD
CA958310 RCV001038126 rs758090662	771	T>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs764727316 CA958307	773	Y>S		No	ClinGen ExAC gnomAD
rs759110306 CA958306 RCV001348870	777	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs777106757 CA958305	778	L>P		No	ClinGen ExAC TOPMed gnomAD
RCV000085473 rs61749430 CA226992	779	C>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs139238191 CA958304	779	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374854647 CA958303	779	C>S		No	ClinGen ESP ExAC
CA958300 rs774505934	781	A>S		No	ClinGen ExAC TOPMed gnomAD
CA958299 rs774505934 COSM1345007	781	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA26844053 RCV000594953 rs911580078	782	W>*		No	ClinGen ClinVar TOPMed dbSNP
CA341277734 rs768852382	782	W>G		No	ClinGen ExAC TOPMed
CA958298 rs768852382	782	W>R		No	ClinGen ExAC TOPMed
rs781254854 CA958297 RCV000254765	785	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000478565 rs781254854 CA958296	785	R>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA958294 RCV001320597 rs368457541 COSM1345006	785	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA958295 rs368457541	785	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341277694 rs149214080	788	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA958292 RCV001053886 rs149214080	788	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341277689 rs1340980590	789	E>Q		No	ClinGen TOPMed
rs547925462 CA26844027	790	L>R		No	ClinGen TOPMed
rs1570387324 CA341277674	791	K>R		No	ClinGen Ensembl
CA341277663 rs1288847102	792	K>N		No	ClinGen TOPMed
CA341277662 rs1375925632 RCV001350324	793	A>T		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	793	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs281865399 RCV000085476	795	S>missing		No	ClinVar dbSNP
rs1420128252 CA341277202	795	S>N		No	ClinGen gnomAD
TCGA novel	798	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001227317 rs1660945616	800	V>missing		No	ClinVar dbSNP
rs61752405 RCV000085478	804	F>missing		No	ClinVar dbSNP
CA341277119 rs1317347413	808	Y>F		No	ClinGen gnomAD
rs779632834 CA958271	809	L>P		No	ClinGen ExAC gnomAD
rs756515248 CA958270	810	V>A		No	ClinGen ExAC gnomAD
rs758777521 CA958269 RCV001063595 COSM913456	811	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs368016280 CA958268	811	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs140671840 CA958266	815	Q>K		No	ClinGen ESP ExAC TOPMed
rs61750202 CA341277056	818	G>A		No	ClinGen ExAC TOPMed gnomAD
RCV001299444 rs1660943170	819	L>Q		No	ClinVar dbSNP
rs914542176 CA26843397 RCV001350696	820	Q>P		No	ClinGen ClinVar TOPMed dbSNP
CA958264 rs769908894	822	S>G		No	ClinGen ExAC gnomAD
rs267598775 CA26843385	823	N>S		No	ClinGen Ensembl
CA341277005 rs1235042753	826	N>I		No	ClinGen TOPMed
CA958259 rs768241038	830	E>G		No	ClinGen ExAC TOPMed gnomAD
RCV001211895 rs1660941624	832	D>G		No	ClinVar dbSNP
CA26843349 rs866110084	832	D>N		No	ClinGen TOPMed gnomAD
RCV001239344 CA958256 rs755640766	833	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1411484168 CA341276937	836	F>L		No	ClinGen gnomAD
CA341276911 rs1190288078	840	M>K		No	ClinGen gnomAD
rs1469199783 CA341276915	840	M>L		No	ClinGen TOPMed
CA958250 rs143100856	841	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA958251 rs143100856	841	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA958249 rs752950057	842	M>L		No	ClinGen ExAC gnomAD
rs752950057 CA26843300	842	M>V		No	ClinGen ExAC gnomAD
rs1660938718 RCV001207554	843	M>I		No	ClinVar dbSNP
CA958248 rs765425569	844	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1660938577 RCV001202579	844	L>R		No	ClinVar dbSNP
VAR_008493 CA227006 RCV000085484 rs61754027	846	D>H	severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding [UniProt]	No	ClinGen ClinVar UniProt Ensembl dbSNP
CA341276865 rs1390658269	847	A>S		No	ClinGen gnomAD
CA958247 rs759628691	849	V>L		No	ClinGen ExAC gnomAD
CA26843273 rs143797418	850	Y>C		No	ClinGen ESP
rs1270484571 CA341276834	852	L>F		No	ClinGen gnomAD
rs140720250 CA26843259	852	L>S		No	ClinGen ESP
rs377670057 CA958245	854	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs61749438 CA341276817	855	W>C		No	ClinGen gnomAD
rs201223321 CA26843232	856	Y>H		No	ClinGen Ensembl
rs1660936980 RCV001347893	858	D>G		No	ClinVar dbSNP
rs140281495 CA341276793	859	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1660936779 RCV001199606	860	V>A		No	ClinVar dbSNP
rs775189672 CA958242	860	V>M		No	ClinGen ExAC TOPMed gnomAD
rs781556982 CA26843211	861	F>V		No	ClinGen Ensembl
CA227015 rs61751382 RCV000085491	862	P>L		No	ClinGen ClinVar Ensembl dbSNP
CA341276207 rs76157638	863	G>E	Cone-rod dystrophy 3 (cord3) Retinitis pigmentosa (rp) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341276200 rs1379569514	864	D>E		No	ClinGen gnomAD
CA26841998 rs267598774	864	D>N		No	ClinGen Ensembl
CA26841995 rs773824216	867	T>S		No	ClinGen Ensembl
rs751791095 RCV001212111	868	P>missing		No	ClinVar dbSNP
CA10588301 rs867875828 RCV000255758	870	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA958219 rs778392568	871	W>G		No	ClinGen ExAC gnomAD
RCV001246765 rs1660844241	874	L>missing		No	ClinVar dbSNP
rs1660843612 RCV001305348	876	Q>P		No	ClinVar dbSNP
CA341276118 rs1357281730	877	E>G		No	ClinGen gnomAD
rs779160669 RCV001346278 COSM913455 CA958217	878	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA958215 rs150984176	879	Y>C		No	ClinGen ESP ExAC
rs1129477 CA958213	882	G>C		No	ClinGen ExAC gnomAD
rs750311446 CA26841968	883	G>S		No	ClinGen TOPMed gnomAD
CA341276072 rs1570382596	884	E>G		No	ClinGen Ensembl
rs1253585396 CA341276066	885	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA341276051 rs1570380098	886	C>G		No	ClinGen Ensembl
rs1432916392 CA341276036	888	T>A		No	ClinGen gnomAD
rs753715991 CA958189	888	T>S		No	ClinGen ExAC gnomAD
RCV001211845 rs766079334 CA958188	891	E>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341276008 rs1199789277	892	R>K		No	ClinGen TOPMed
CA341275976 rs1570380071	897	T>P		No	ClinGen Ensembl
rs1457788497 CA341275945	902	E>G		No	ClinGen TOPMed
TCGA novel	903	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001315978 CA958187 rs774699366	904	T>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA958185 rs749616079	905	E>K		No	ClinGen ExAC gnomAD
CA341275921 rs1406771874	906	D>N		No	ClinGen TOPMed
COSM1580384 CA958183 rs769948281	907	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341275899 rs138247113	909	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA958182 rs138247113	909	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA26841375 rs968740808	910	P>L		No	ClinGen Ensembl
CA341275866 rs1302088524	912	G>E		No	ClinGen gnomAD
COSM1688056 rs1216408517 CA341275875	912	G>R	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1362746093	914	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
VAR_012543	914	H>R		No	UniProt
rs139035971 CA958179	915	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA958180 rs139035971	915	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs539815930 CA958164	919	E>D		No	ClinGen ExAC gnomAD
RCV001312740 rs533451778 CA958163	920	R>C		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs376526710 CA958162	920	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs749234960 CA958158	921	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1277583380 CA341275596	921	E>K		No	ClinGen TOPMed
CA341275579 rs1443880828	923	P>S		No	ClinGen gnomAD
rs1302568799 CA341275558	926	V>F		No	ClinGen TOPMed
CA958154 rs767041978	929	V>A		No	ClinGen ExAC gnomAD
CA958155 rs750273269	929	V>I		No	ClinGen ExAC gnomAD
rs756961160 CA341275533	930	C>W		No	ClinGen ExAC TOPMed gnomAD
CA958152 rs573904763	931	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA341275523 COSM3419593 rs775951957	932	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA958151 rs762504253	932	K>R		No	ClinGen ExAC gnomAD
CA958149 rs765769761	935	V>I		No	ClinGen ExAC TOPMed gnomAD
RCV001050210 rs1660704375	936	K>N		No	ClinVar dbSNP
CA341275494 rs1234899018	937	I>T		No	ClinGen gnomAD
CA958147 rs771000047	940	P>S		No	ClinGen ExAC gnomAD
CA958145 RCV001307168 rs113503406	941	C>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA26840863 rs113503406	941	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA958144 rs772266296	942	G>R		No	ClinGen ExAC
RCV000085511 rs281865513	943	R>missing		No	ClinVar dbSNP
rs61749446 RCV000085509 CA227035	943	R>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001268771 rs1660702616	944	P>missing		No	ClinVar dbSNP
rs1356117539 CA341275459	944	P>S		No	ClinGen TOPMed
CA26840843 rs150616268	945	A>S		No	ClinGen ESP TOPMed
CA341275440 rs1343910380	947	D>G		No	ClinGen gnomAD
CA341275444 rs1324891342	947	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751222829 CA958139	948	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA958140 rs751222829	948	R>G		No	ClinGen ExAC TOPMed gnomAD
CA958138 rs148545207 RCV001052957	948	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1660702072 RCV001300387	951	I>T		No	ClinVar dbSNP
rs1338802362 CA341275420	951	I>V		No	ClinGen TOPMed
TCGA novel	952	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341275408 rs1186054597	952	T>I		No	ClinGen gnomAD
TCGA novel	953	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341275389 rs1553191096	955	E>D		No	ClinGen Ensembl
CA958135 COSM1345004 RCV000755764 rs765680067	955	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA958136 rs765680067	955	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs760102207 CA958134	955	E>V		No	ClinGen ExAC gnomAD
rs1487933769 CA341275374	957	Q>H		No	ClinGen gnomAD
rs754082669 CA958131	958	I>T		No	ClinGen ExAC gnomAD
CA341275363 rs772463435	960	A>S		No	ClinGen ExAC gnomAD
CA958128 rs772463435	960	A>T	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761945060 CA958127	960	A>V		No	ClinGen ExAC gnomAD
rs61750203 RCV000085519	962	L>missing		No	ClinVar dbSNP
rs1660700735 RCV001246510	963	G>R		No	ClinVar dbSNP
CA341275317 rs1291080436	967	A>G		No	ClinGen gnomAD
RCV001230252 rs1291080436	967	A>V		No	ClinVar dbSNP
RCV000175396 CA241135 rs794727220	968	G>R		No	ClinGen ClinVar Ensembl dbSNP
RCV001247612 rs1660700260	969	K>E		No	ClinVar dbSNP
RCV001346000 rs1660700107	970	T>I		No	ClinVar dbSNP
CA958122 rs61749451	972	T>I	Retinitis pigmentosa (rp) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA341275292 rs1570377836	972	T>P		No	ClinGen Ensembl
CA341275268 rs281865400	974	S>A		No	ClinGen ExAC gnomAD
TCGA novel	974	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341275265 rs1252024719	974	S>F		No	ClinGen TOPMed
CA958091 rs150098352	975	I>M		No	ClinGen ESP ExAC TOPMed
CA958092 rs146140442	975	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA341275263 rs1200209303	975	I>V		No	ClinGen TOPMed gnomAD
RCV001063061 CA958090 rs148015012	977	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147826775 CA958088	981	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA958087 rs760608881	982	P>A		No	ClinGen ExAC gnomAD
CA341275207 rs1327544801	986	T>A		No	ClinGen gnomAD
rs1660624204 RCV001041602	986	T>I		No	ClinVar dbSNP
CA341275184 rs1406273620	990	G>E		No	ClinGen TOPMed gnomAD
CA26839871 rs865963204	990	G>R		No	ClinGen Ensembl
CA227062 rs61749455 RCV000085532	991	G>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA341275178 rs1297410481	991	G>V		No	ClinGen TOPMed
RCV000085533 rs281865401	993	D>missing		No	ClinVar dbSNP
CA341275160 rs1383922944	994	I>T		No	ClinGen TOPMed
rs779445155 CA958083	995	E>K		No	ClinGen ExAC gnomAD
CA341275149 rs1570374969	996	T>P		No	ClinGen Ensembl
CA341275139 rs1320988700	997	S>T		No	ClinGen TOPMed
RCV001207329 rs1660621523	998	L>P		No	ClinVar dbSNP
CA341275128 rs1194603868	999	D>Y		No	ClinGen TOPMed gnomAD
rs781780151 CA958082	1000	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1216142497 CA341275122	1000	A>T		No	ClinGen TOPMed
rs781780151 RCV001242322 CA958081	1000	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001302482 rs752000268 CA958079	1002	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs757678409 CA958080	1002	R>W		No	ClinGen ExAC gnomAD
CA958078 rs764324152	1003	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA26839810 rs1007214776	1004	S>G		No	ClinGen Ensembl
rs758560501 CA958077	1004	S>N		No	ClinGen ExAC TOPMed gnomAD
CA341275094 rs1422542043	1005	L>F		No	ClinGen TOPMed
rs370665697 CA958076	1007	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA341275072 rs1391251856	1008	C>S		No	ClinGen gnomAD
rs1386535443 CA341275063	1009	P>L		No	ClinGen TOPMed
TCGA novel	1012	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1660619507 RCV001301878	1014	L>missing		No	ClinVar dbSNP
CA341275027 rs1219526989	1015	F>I		No	ClinGen TOPMed gnomAD
CA341275026 rs1219526989	1015	F>L		No	ClinGen TOPMed gnomAD
rs112300381 CA26866478	1020	V>A		No	ClinGen TOPMed
RCV001244287 rs61749459 CA26866445	1022	E>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	1023	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759064844 CA958050	1024	M>L		No	ClinGen ExAC gnomAD
rs759064844 CA958049	1024	M>V		No	ClinGen ExAC gnomAD
rs1660575947 RCV001058789	1025	L>P		No	ClinVar dbSNP
rs1016733348 CA26866411	1030	L>V		No	ClinGen TOPMed
rs61750060 RCV001244144	1031	K>*		No	ClinVar dbSNP
TCGA novel	1032	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771495707 CA958047	1032	G>R		No	ClinGen ExAC gnomAD
CA958046 rs747463778	1032	G>V		No	ClinGen ExAC gnomAD
CA958043 rs748585116	1034	S>P		No	ClinGen ExAC gnomAD
RCV000322200 CA958042 rs779067729	1035	Q>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs566342133 CA958041	1040	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1394689151 CA341292535	1042	M>T		No	ClinGen gnomAD
CA341292512 rs1394101107	1045	M>T		No	ClinGen gnomAD
rs886042904 RCV000351622	1047	E>missing		No	ClinVar dbSNP
CA958039 rs143860733	1047	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs751441724 CA958038	1048	D>G		No	ClinGen ExAC gnomAD
rs1169767756 CA341292485	1049	T>A		No	ClinGen gnomAD
CA26866329 rs1034969302	1050	G>S		No	ClinGen TOPMed
CA341292467 rs1213555679	1052	H>R		No	ClinGen TOPMed
rs1557778526 CA341292469	1052	H>Y		No	ClinGen Ensembl
rs758100380 CA958037	1053	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs61752412 CA958036	1055	R>G		No	ClinGen ExAC TOPMed gnomAD
CA958035 RCV001352568 COSM143666 COSM1181251 rs187071406	1055	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA341292442 rs1489203291	1056	N>S		No	ClinGen TOPMed gnomAD
CA341292429 rs1265535267	1058	E>K		No	ClinGen gnomAD
rs1265535267 CA341292428	1058	E>Q		No	ClinGen gnomAD
rs760279930 CA958032	1059	A>G		No	ClinGen ExAC gnomAD
rs765972338 CA958033	1059	A>S		No	ClinGen ExAC gnomAD
rs772663974 CA958031	1060	Q>R		No	ClinGen ExAC gnomAD
RCV001234194 rs966434923 CA26866252	1062	L>I		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA341292403 rs966434923	1062	L>V		No	ClinGen TOPMed gnomAD
CA958013 rs762388890	1065	G>S		No	ClinGen ExAC gnomAD
CA958011 rs768997888	1066	M>R		No	ClinGen ExAC gnomAD
rs768997888 CA958012	1066	M>T		No	ClinGen ExAC gnomAD
CA26865717 rs972573745	1068	R>I		No	ClinGen Ensembl
CA341292352 rs1557778273	1069	K>E		No	ClinGen Ensembl
rs61750063 RCV000085557	1070	L>missing		No	ClinVar dbSNP
rs781332563 CA958006	1071	S>P		No	ClinGen ExAC gnomAD
CA341292331 rs1180611893	1073	A>T		No	ClinGen gnomAD
rs754788289 CA958002	1073	A>V		No	ClinGen ExAC TOPMed gnomAD
rs368054254 CA958001	1074	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1029012582 CA26865556	1079	D>N		No	ClinGen Ensembl
RCV001304115 rs1660531880	1081	K>FVGDV		No	ClinVar dbSNP
RCV001350170 rs1660531924	1083	V>E		No	ClinVar dbSNP
TCGA novel	1085	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278743459 CA341292153	1087	E>G		No	ClinGen gnomAD
rs1660531525 RCV001044286	1088	P>L		No	ClinVar dbSNP
RCV000594984 rs1553190579 CA341292142	1088	P>S		No	ClinGen ClinVar Ensembl dbSNP
rs1131691351 CA341292118 RCV000492921	1090	S>P		No	ClinGen ClinVar Ensembl dbSNP
rs761290184 CA957997	1092	V>A		No	ClinGen ExAC gnomAD
CA957998 rs555116112	1092	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000085565 rs61752418 CA227100	1093	D>G		No	ClinGen ClinVar Ensembl dbSNP
rs752042614 CA957996	1094	P>S		No	ClinGen ExAC gnomAD
CA957995 rs763267492	1096	S>L		No	ClinGen ExAC gnomAD
CA26865486 rs891533398	1098	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA957992 rs776773510	1099	S>L		No	ClinGen ExAC gnomAD
RCV001318842 rs1553190559	1100	I>T		No	ClinVar dbSNP
rs572604704 RCV001206815 CA957990	1100	I>V		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs143689372 RCV000482283 CA16617207	1102	D>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001350832 rs143689372 CA26865409	1102	D>G		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001208554 rs138641544 CA957988 COSM109399	1102	D>N	skin [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs143689372 RCV001207400 CA957986	1102	D>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA957987 VAR_084908 rs138641544	1102	D>Y		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA341291943 rs1424302918	1103	L>V		No	ClinGen TOPMed
CA957983 rs756731889	1106	K>N		No	ClinGen ExAC TOPMed gnomAD
CA957984 rs750079068	1106	K>R		No	ClinGen ExAC gnomAD
CA341291890 rs1557778162	1107	Y>H		No	ClinGen Ensembl
rs1333006788 CA341291404	1110	G>D		No	ClinGen TOPMed
CA341291833 rs1557778142	1110	G>R		No	ClinGen Ensembl
rs1385693763 RCV001314356 CA341291367	1113	I>V		No	ClinGen ClinVar dbSNP gnomAD
rs1166656768 CA341291352	1114	I>L		No	ClinGen gnomAD
rs372948027 CA341291321 CA957957	1115	M>I		No	ClinGen ESP ExAC gnomAD
rs376947008 CA957958	1115	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA957956 rs369440533 RCV001235193	1118	H>Y		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA957954 rs762035001	1119	H>N		No	ClinGen ExAC gnomAD
rs376831329 CA341291246	1120	M>K		No	ClinGen ESP ExAC gnomAD
rs376831329 CA957953	1120	M>T		No	ClinGen ESP ExAC gnomAD
CA957952 rs146117512	1121	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA227114 rs61750123 RCV000085575	1122	E>D		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1123	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001295280 rs746647738 CA957949	1124	D>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA957950 RCV001341345 rs770774738	1124	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA26863767 rs1047375	1125	L>H		No	ClinGen Ensembl
rs1047376 CA26863766	1126	L>H		No	ClinGen TOPMed gnomAD
RCV001342373 rs1660481292	1126	L>V		No	ClinVar dbSNP
CA957947 rs369922919	1128	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA957948 rs777447834	1128	D>N		No	ClinGen ExAC TOPMed gnomAD
rs779426136 CA957946	1129	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV000085577 rs61750124	1132	I>missing		No	ClinVar dbSNP
rs754164108 CA957944	1134	A>D		No	ClinGen ExAC gnomAD
RCV000412823 rs1057517701 CA16042404	1135	Q>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001232943 rs1660480045	1136	G>V		No	ClinVar dbSNP
rs765328414 RCV001302226 CA26863669	1137	R>G		No	ClinGen ClinVar dbSNP gnomAD
CA341290960 rs1470342715	1137	R>K		No	ClinGen TOPMed
rs1287053724 RCV001268101	1138	L>H		No	ClinVar dbSNP
CA957942 rs756605933	1141	S>L		No	ClinGen ExAC TOPMed gnomAD
rs767894041 CA26863651	1143	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767894041 CA957940	1143	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1313428356 CA341290887	1143	T>P		No	ClinGen TOPMed
CA26863646 rs1047230065	1144	P>S		No	ClinGen TOPMed
RCV001231338 rs1660479149	1145	L>R		No	ClinVar dbSNP
rs61752420 RCV000085578	1146	F>*		No	ClinVar dbSNP
VAR_012566	1148	K>T		No	UniProt
rs761915394 CA341290791	1149	N>D		No	ClinGen ExAC TOPMed gnomAD
CA957939 rs761915394	1149	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs375783686 CA341290769	1150	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA957935 rs776603655	1155	L>F		No	ClinGen ExAC
rs371833190 CA957936	1155	L>S		No	ClinGen ESP ExAC gnomAD
CA957934 rs770686826	1156	Y>F		No	ClinGen ExAC gnomAD
CA341290620 rs1285919696	1158	T>N		No	ClinGen gnomAD
rs747634650 CA957930	1160	V>L		No	ClinGen ExAC TOPMed gnomAD
CA341290592 rs747634650	1160	V>M		No	ClinGen ExAC TOPMed gnomAD
CA957929 rs553776104 RCV000523804	1161	R>C		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1361239964 CA341290540	1162	K>M		No	ClinGen gnomAD
CA957926 rs780757270	1163	M>T		No	ClinGen ExAC gnomAD
CA957925 rs756518126	1167	Q>E		No	ClinGen ExAC gnomAD
CA957924 rs776916571	1169	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA957923 rs781521866	1170	R>G		No	ClinGen ExAC TOPMed gnomAD
CA957922 rs757421299	1170	R>K	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA341290445 rs757421299	1170	R>T		No	ClinGen ExAC gnomAD
CA26863521 rs975090023	1172	G>D		No	ClinGen Ensembl
rs751595372 CA957921	1172	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1210484040 CA341290404	1173	S>N		No	ClinGen TOPMed gnomAD
rs1446082893 CA341290387	1174	E>G		No	ClinGen gnomAD
RCV000085581 rs62645954	1177	C>missing		No	ClinVar dbSNP
RCV000085582 rs61750125 CA227122	1177	C>*		No	ClinGen ClinVar Ensembl dbSNP
CA957898 rs75267647	1183	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341290146 rs1448698653	1183	G>V		No	ClinGen gnomAD
CA341290104 rs1190228533	1186	T>I		No	ClinGen gnomAD
RCV001316923 rs1266156413 CA341290098	1187	T>K		No	ClinGen ClinVar dbSNP gnomAD
CA26862309 rs1032514901	1187	T>S		No	ClinGen Ensembl
CA957895 rs762511060	1188	C>R		No	ClinGen ExAC gnomAD
rs370644803 CA26862278	1188	C>S		No	ClinGen TOPMed
rs370644803 CA26862285	1188	C>Y		No	ClinGen TOPMed
CA26862255 rs1025059311	1190	A>D		No	ClinGen Ensembl
rs1340595876 CA341290059	1191	H>N		No	ClinGen gnomAD
CA341290040 rs1370609179	1192	V>A		No	ClinGen gnomAD
CA341290045 rs770363333	1192	V>L		No	ClinGen ExAC gnomAD
CA341290031 rs374610040	1193	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs777239290 RCV001211273 CA957892	1193	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA10586745 RCV000254062 RCV001370240 rs886038285	1194	D>E		No	ClinGen ClinVar Ensembl dbSNP
CA341290026 rs1297633961	1194	D>Y		No	ClinGen gnomAD
CA341289839 rs1323928773	1198	E>Q		No	ClinGen TOPMed
rs137853898 CA228871 RCV000086932	1199	Q>*		No	ClinGen ClinVar dbSNP gnomAD
rs137853898 CA341289832	1199	Q>K		No	ClinGen gnomAD
CA341289813 rs1196264082	1202	D>N		No	ClinGen gnomAD
CA341289663 rs1570367456	1205	V>I		No	ClinGen Ensembl
rs1267724855 CA341289651	1206	N>H		No	ClinGen gnomAD
rs1331283717 CA341289635	1207	E>D		No	ClinGen gnomAD
CA957866 RCV001309889 rs780950161	1207	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs757221381 CA957865	1208	L>M		No	ClinGen ExAC gnomAD
rs1339763583 CA341289626	1209	M>L		No	ClinGen gnomAD
rs767956362 CA26860294	1211	V>I		No	ClinGen Ensembl
rs142882518 CA957861	1213	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA957860 rs759079505	1215	H>R		No	ClinGen ExAC TOPMed gnomAD
RCV001341791 rs1660366503	1215	H>Q		No	ClinVar dbSNP
rs1660366419 RCV001207354	1216	V>missing		No	ClinVar dbSNP
rs776212035 CA957859	1216	V>I		No	ClinGen ExAC gnomAD
rs766740575 CA957858	1219	A>P		No	ClinGen ExAC gnomAD
CA341289467 rs762213896	1224	C>R		No	ClinGen ExAC TOPMed gnomAD
CA341289464 rs1397969767	1224	C>Y		No	ClinGen TOPMed
rs1247681526 CA341289457	1225	I>L		No	ClinGen gnomAD
rs1660365201 RCV001313114	1225	I>T		No	ClinVar dbSNP
CA26860236 rs929411203	1226	G>D		No	ClinGen TOPMed gnomAD
CA341289445 rs1479936357	1226	G>S		No	ClinGen gnomAD
rs149849017 CA957851	1229	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs749258281 CA957849	1230	I>T		No	ClinGen ExAC gnomAD
CA957850 rs768895720	1230	I>V		No	ClinGen ExAC gnomAD
rs1246772980 CA341289389	1231	F>Y		No	ClinGen gnomAD
rs878939877 CA26860202	1232	L>F		No	ClinGen Ensembl
rs61752422 CA957848	1235	N>H		No	ClinGen ExAC TOPMed gnomAD
rs769819432 CA957847	1236	K>E		No	ClinGen ExAC gnomAD
rs769819432 CA26860198	1236	K>Q		No	ClinGen ExAC gnomAD
CA341289296 rs1390307355	1237	N>I		No	ClinGen gnomAD
rs1303664995 CA341289294	1237	N>K		No	ClinGen TOPMed
rs746958360 CA341289275 CA957846	1238	F>L		No	ClinGen ExAC TOPMed gnomAD
CA957845 rs777892957	1241	R>K		No	ClinGen ExAC gnomAD
CA341289224 rs1389287812	1242	A>T		No	ClinGen gnomAD
CA26860180 rs1036812400	1243	Y>H		No	ClinGen TOPMed
rs1458777143 CA341289187	1244	A>D		No	ClinGen gnomAD
CA957844 rs374303695	1244	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1389971564 CA341289176	1245	S>N		No	ClinGen gnomAD
CA957843 rs370530559	1245	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA26860166 rs909796557	1248	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	1249	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341289110 rs1451564181	1249	E>Q		No	ClinGen gnomAD
CA341289053 rs61752423	1252	E>K		No	ClinGen ExAC TOPMed gnomAD
CA957841 rs61752423	1252	E>Q		No	ClinGen ExAC TOPMed gnomAD
RCV001236223 rs762125655 CA957837	1255	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1015145323 CA26860138	1256	D>H		No	ClinGen Ensembl
TCGA novel	1259	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774700576 CA957836	1260	S>G		No	ClinGen ExAC gnomAD
CA957835 rs768807569	1260	S>N		No	ClinGen ExAC gnomAD
CA341288854 rs1328821818	1260	S>R		No	ClinGen gnomAD
CA341288757 rs1324890038	1263	G>A		No	ClinGen gnomAD
rs531449824 CA26860118	1265	S>C		No	ClinGen Ensembl
RCV001326120 rs763219678 CA957834	1267	T>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1660360960 RCV001326260	1269	L>R		No	ClinVar dbSNP
RCV001232792 rs1660360744	1271	E>G		No	ClinVar dbSNP
rs281865514 RCV000085594	1274	L>missing		No	ClinVar dbSNP
RCV001351169 CA957815 rs764435582	1274	L>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA957814 rs764435582	1274	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1660349633 RCV001210443	1276	V>missing		No	ClinVar dbSNP
rs1412990028 CA341288386	1276	V>I		No	ClinGen gnomAD
rs1177320284 CA341288366	1277	T>A		No	ClinGen TOPMed gnomAD
rs374565343 COSM3419591 RCV001051888 CA957812	1277	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA341288369 rs1177320284	1277	T>P		No	ClinGen TOPMed gnomAD
rs759598051 CA957810	1278	E>G		No	ClinGen ExAC gnomAD
CA341288339 rs1483964686	1279	D>E		No	ClinGen gnomAD
RCV001248038 rs1660348024	1286	F>missing		No	ClinVar dbSNP
rs370076001 CA26859763	1286	F>L		No	ClinGen ESP TOPMed gnomAD
CA957807 rs200439056	1287	A>E		No	ClinGen ExAC gnomAD
CA957809 rs776866627	1287	A>T		No	ClinGen ExAC gnomAD
CA957808 rs200439056	1287	A>V		No	ClinGen ExAC gnomAD
CA957804 rs749060207	1288	G>R		No	ClinGen ExAC gnomAD
CA341288204 rs749060207	1288	G>S		No	ClinGen ExAC gnomAD
CA957781 RCV001300950 rs745511918	1289	G>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs143576497 CA957779 COSM1344999	1290	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
RCV001347873 rs1660220944	1291	Q>L		No	ClinVar dbSNP
rs61752426 CA227143 RCV000085597	1292	Q>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs758846438 CA957777	1292	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA341287839 rs1322658168	1294	R>I		No	ClinGen gnomAD
rs1322658168 CA341287841	1294	R>T		No	ClinGen gnomAD
CA341287836 rs1454362352	1295	E>K		No	ClinGen TOPMed gnomAD
rs200753584 CA957775	1297	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1183899256 CA341287791	1301	H>Q		No	ClinGen gnomAD
rs1168052786 CA341287788	1302	P>S		No	ClinGen TOPMed
rs946827466 CA26855633	1303	C>S		No	ClinGen gnomAD
CA26855628 rs913904785	1304	L>F		No	ClinGen Ensembl
rs750473426 CA957772	1305	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1660219342 RCV001232851	1305	G>S		No	ClinVar dbSNP
TCGA novel	1306	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764034837 CA957771	1308	E>G		No	ClinGen ExAC gnomAD
rs1485892324 CA341287752	1308	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1485892324 CA341287753	1308	E>Q		No	ClinGen gnomAD
CA341287735 rs775563920	1310	A>D		No	ClinGen ExAC gnomAD
rs775563920 CA957769	1310	A>V		No	ClinGen ExAC gnomAD
TCGA novel	1311	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1660218703 RCV001068563	1312	Q>missing		No	ClinVar dbSNP
rs759373941 CA957767	1312	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA341287727 rs1390442032	1312	Q>K		No	ClinGen TOPMed
CA341287709 rs1300088198	1313	T>P		No	ClinGen gnomAD
CA227150 VAR_008442 rs61754041 RCV000085601	1314	P>T		No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA957765 rs746468013	1316	D>V		No	ClinGen ExAC gnomAD
rs1291821062 CA341287673	1316	D>Y		No	ClinGen gnomAD
rs960704174 CA26855532 RCV001227567	1318	N>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1428867662 CA341287642	1319	V>I		No	ClinGen gnomAD
CA957763 rs771682963	1320	C>G		No	ClinGen ExAC gnomAD
rs1440926208 CA341287625	1320	C>S		No	ClinGen TOPMed
CA957761 rs779524552 RCV001304451	1321	S>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs755345494 CA957760	1322	P>S		No	ClinGen ExAC gnomAD
rs1660217584 RCV001059570	1324	A>missing		No	ClinVar dbSNP
rs369361520 CA957758	1324	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA341287592 rs1490986516	1324	A>T		No	ClinGen gnomAD
CA957756 rs371582683	1325	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA341287567 rs761989194	1326	A>V		No	ClinGen ExAC gnomAD
CA341287551 rs1571265278	1328	H>P		No	ClinGen Ensembl
TCGA novel	1329	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571265271 CA341287530	1330	E>G		No	ClinGen Ensembl
rs1221005102 CA341287510	1332	Q>R		No	ClinGen TOPMed gnomAD
rs368413231 CA957751	1333	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1660216238 RCV001345319	1333	P>TPEPECQP		No	ClinVar dbSNP
rs770774620 RCV001211644 CA957749	1334	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA341287486 rs1194460760	1335	P>T		No	ClinGen TOPMed
rs772961093 RCV001337335	1336	E>D		No	ClinVar dbSNP
rs760242485 CA957748	1336	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA957746 rs771461979	1339	C>Y		No	ClinGen ExAC gnomAD
rs779248561 CA957744	1341	G>D		No	ClinGen ExAC TOPMed gnomAD
COSM145036 rs981447805 CA26855410	1342	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1245239494 CA341287402	1343	Q>H		No	ClinGen gnomAD
CA957742 rs749605584	1344	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1253110874 CA341287142	1345	N>S		No	ClinGen TOPMed gnomAD
CA957740 rs780550919	1346	T>M		No	ClinGen ExAC gnomAD
RCV000085603 rs61751401	1347	G>missing		No	ClinVar dbSNP
rs1354759338 CA341287122	1347	G>R		No	ClinGen TOPMed
CA16617204 RCV000483648 rs1064793012	1350	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs751689141 CA957735	1355	V>A		No	ClinGen ExAC gnomAD
rs994570602 CA26855366	1356	Q>P		No	ClinGen gnomAD
CA341286986 rs552517556 RCV000761667	1357	A>E		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA957732 rs552517556	1357	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs552517556 RCV001244465	1357	A>V		No	ClinVar dbSNP
CA227155 rs61752429 RCV000085604	1358	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs1660213080 RCV001325776	1360	V>D		No	ClinVar dbSNP
TCGA novel	1361	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571265149 CA341286900	1363	F>S		No	ClinGen Ensembl
rs1571265141 CA341286849	1365	H>P		No	ClinGen Ensembl
CA957728 rs767232026	1366	T>P		No	ClinGen ExAC gnomAD
rs1054210292 CA26855343	1367	I>N		No	ClinGen TOPMed gnomAD
rs1054210292 CA341286807	1367	I>T		No	ClinGen TOPMed gnomAD
rs1183074086 CA341286794	1368	R>G		No	ClinGen gnomAD
CA957727 COSM1320833 rs761163530	1368	R>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA957726 rs774010684	1371	K>R		No	ClinGen ExAC gnomAD
CA341286742 rs1205837857	1373	F>I		No	ClinGen gnomAD
rs1267585230 CA341286706	1375	A>E		No	ClinGen gnomAD
TCGA novel	1375	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267585230 CA341286705 RCV000522465	1375	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
CA957703 rs145681797	1377	I>M		No	ClinGen ESP ExAC gnomAD
rs1389129096 CA341286506	1378	V>A		No	ClinGen gnomAD
rs1660190269 RCV001063512	1379	L>P		No	ClinVar dbSNP
rs543127423 CA957699	1381	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543127423 CA341286466	1381	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1660189911 RCV001230206	1382	T>I		No	ClinVar dbSNP
rs758424704 CA341286409	1385	F>I		No	ClinGen ExAC gnomAD
rs758424704 CA957697	1385	F>V		No	ClinGen ExAC gnomAD
CA957696 rs576119077	1387	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs750384181 CA957694	1390	L>I		No	ClinGen ExAC gnomAD
CA341286311 rs1353754487	1391	S>F		No	ClinGen TOPMed
rs757042025 CA957693	1393	V>A		No	ClinGen ExAC TOPMed gnomAD
CA26854945 rs1045163391	1393	V>I		No	ClinGen TOPMed
rs1047379 CA26854942	1395	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM1688055 CA341286288 rs1489868696	1395	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA957692 rs751233838 COSM682658	1397	F>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA957689 rs765601410	1399	E>V		No	ClinGen ExAC gnomAD
CA341286222 rs1305455299	1401	P>A		No	ClinGen gnomAD
CA341286220 rs1305455299	1401	P>S		No	ClinGen gnomAD
rs554101094 CA957687	1402	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV001237651 CA26854928 rs554101094	1402	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001324844 rs1660186858	1406	H>R		No	ClinVar dbSNP
RCV000487474 rs1064797091 CA16617203	1407	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs61750134 RCV001067225	1408	W>*		No	ClinVar dbSNP
RCV001247691 rs1660186211	1410	Y>D		No	ClinVar dbSNP
rs61750136 RCV000085615	1411	G>missing		No	ClinVar dbSNP
rs1477065041 CA341286103	1411	G>E		No	ClinGen gnomAD
rs779039734 CA957683	1411	G>W		No	ClinGen ExAC gnomAD
CA341286075 rs1201535434 RCV001069800	1413	Q>H		No	ClinGen ClinVar dbSNP gnomAD
CA341286039 rs1480701186	1416	F>L		No	ClinGen TOPMed gnomAD
RCV001091947 rs1467000353	1417	F>missing		No	ClinVar dbSNP
rs768684057 CA957682	1417	F>L		No	ClinGen ExAC
rs1450732484 CA341285923	1422	P>Q		No	ClinGen gnomAD
CA957661 rs754474720	1424	S>C		No	ClinGen ExAC gnomAD
CA957660 rs753292940	1424	S>I		No	ClinGen ExAC TOPMed gnomAD
rs753292940 CA341285903	1424	S>N		No	ClinGen ExAC TOPMed gnomAD
CA341285878 rs1248210975	1426	Q>L		No	ClinGen gnomAD
rs1156808600 CA341285849	1429	V>L		No	ClinGen gnomAD
CA957658 rs534072417	1430	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs774582644 CA957655	1438	P>Q		No	ClinGen ExAC gnomAD
rs1571264075 CA341285715	1442	N>T		No	ClinGen Ensembl
CA957651 rs533422156	1443	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA957652 rs533422156	1443	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1444	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142506651 CA957650 RCV000594447	1448	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA227186 rs61750143 RCV000085632	1449	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs747928913 CA957649 COSM913447	1451	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs752920435 CA957620	1456	G>S		No	ClinGen ExAC gnomAD
rs759626083 CA957618	1459	T>I		No	ClinGen ExAC TOPMed gnomAD
CA26853764 rs373181448	1460	P>S		No	ClinGen ESP TOPMed gnomAD
RCV001091945 rs1347261858	1461	W>*		No	ClinVar dbSNP
CA957617 rs753984595	1461	W>R		No	ClinGen ExAC TOPMed gnomAD
rs924936585 CA26853736	1463	T>N		No	ClinGen TOPMed
CA957616 RCV001204917 rs113134400	1463	T>P		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs113134400 CA26853759	1463	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA957615 rs761652443 RCV001245957	1464	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA957614 rs774388826	1465	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1298578408 CA341285238	1465	S>P		No	ClinGen TOPMed
CA341285217 rs1341069538	1466	V>G		No	ClinGen TOPMed
CA341285221 rs1315143020	1466	V>L		No	ClinGen TOPMed
rs1239531373 CA341285209	1467	S>F		No	ClinGen TOPMed
TCGA novel	1467	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341285205 rs775082837 RCV001308502	1468	P>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA341285199 rs1557772284	1468	P>L		No	ClinGen Ensembl
CA957612 rs775082837	1468	P>T		No	ClinGen ExAC gnomAD
rs769441167 CA957611	1469	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745321062 CA957610	1469	N>S		No	ClinGen ExAC TOPMed gnomAD
rs745321062 CA341285193	1469	N>T		No	ClinGen ExAC TOPMed gnomAD
CA341285182 rs1482496499	1470	I>V		No	ClinGen TOPMed
CA341285172 rs1571263473	1471	T>P		No	ClinGen Ensembl
CA957607 rs747439462	1474	F>L		No	ClinGen ExAC gnomAD
CA341285108 rs1224522600	1476	K>E		No	ClinGen Ensembl
rs794727531 CA346872 RCV000177441	1477	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA957605 rs758653947	1477	Q>P		No	ClinGen ExAC gnomAD
rs1660139846 RCV001205033	1479	W>*		No	ClinVar dbSNP
rs1205633762 CA341285024	1480	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA957604 rs753120354	1481	Q>K		No	ClinGen ExAC gnomAD
CA957603 rs779222666	1482	V>I		No	ClinGen ExAC gnomAD
rs764121941 CA957600	1489	R>K		No	ClinGen ExAC TOPMed gnomAD
rs751402865 CA957601	1489	R>W		No	ClinGen ExAC gnomAD
rs61750148 CA26853524	1490	C>R		No	ClinGen TOPMed
rs61750148 RCV000085640 CA227196	1490	C>S		No	ClinGen ClinVar TOPMed dbSNP
rs1157937249 CA341284932	1491	S>G		No	ClinGen TOPMed gnomAD
CA957598 rs765070402	1493	R>G		No	ClinGen ExAC gnomAD
rs1365918183 CA341284910	1493	R>K		No	ClinGen gnomAD
CA26853506 rs200156177	1493	R>S		No	ClinGen ExAC gnomAD
rs745454563 CA341284902	1494	E>*		No	ClinGen TOPMed
rs745454563 CA26853503	1494	E>K		No	ClinGen TOPMed
rs1444297329 CA341284879	1496	L>I		No	ClinGen TOPMed gnomAD
rs1038083678 CA26853493	1500	P>S		No	ClinGen Ensembl
rs888059763 CA26853486	1501	E>*		No	ClinGen TOPMed
RCV000905492 CA957596 rs143272984	1501	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000085642 CA227199 rs61750149	1502	C>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1365368443 CA341284826	1502	C>S		No	ClinGen gnomAD
rs773529178 CA957594	1505	G>A		No	ClinGen ExAC gnomAD
TCGA novel	1505	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341284801 rs1243394849	1506	A>T		No	ClinGen TOPMed gnomAD
CA957593 rs147292831	1506	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs568792949 CA957591	1507	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1444784969 CA341284792	1508	G>S		No	ClinGen gnomAD
TCGA novel	1509	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000596575 CA957587 rs756106154	1510	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs780343543 CA957588	1510	P>S		No	ClinGen ExAC gnomAD
rs886046564 RCV001062597	1511	P>R		No	ClinVar dbSNP
rs1316934987 CA341284774	1511	P>S		No	ClinGen gnomAD
rs61750150 CA957584 RCV001038496	1512	P>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs61750150 CA957583	1512	P>L		No	ClinGen ExAC TOPMed gnomAD
CA957581 rs759373898	1513	Q>E		No	ClinGen ExAC gnomAD
RCV001348500 rs759373898	1513	Q>K		No	ClinVar dbSNP
rs281865377	1513	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs281865377	1513	Q>R	Variant assessed as Somatic; 7.018e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA341284746 rs1446835802	1515	T>A		No	ClinGen TOPMed
CA957561 rs201523394	1517	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201523394 CA341284732	1517	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA957560 rs750087624	1518	S>T		No	ClinGen ExAC TOPMed gnomAD
rs115859773 CA341284720	1519	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA957559 rs115859773 RCV001055840	1519	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	1521	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26846918 rs778488329	1526	T>A		No	ClinGen Ensembl
rs1475557615 CA341284669	1527	D>E		No	ClinGen TOPMed
rs1016502784 CA26846906	1527	D>V		No	ClinGen Ensembl
CA26846900 rs945597194	1528	R>G		No	ClinGen TOPMed
rs141395755 CA957555	1528	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA341284659 rs1285652480	1529	N>T		No	ClinGen gnomAD
CA341284650 rs1335441037	1530	I>T		No	ClinGen TOPMed gnomAD
RCV001345312 rs1659998732	1534	L>W		No	ClinVar dbSNP
CA341284605 rs1401129783	1537	T>P		No	ClinGen gnomAD
rs1659997368 RCV001045023	1538	Y>missing		No	ClinVar dbSNP
rs754897752 CA957550	1538	Y>*		No	ClinGen ExAC gnomAD
rs1427105205 CA341284597	1538	Y>C		No	ClinGen gnomAD
rs1427105205 RCV001318556	1538	Y>F		No	ClinVar dbSNP
CA341284592 rs753785442	1539	P>A		No	ClinGen ExAC gnomAD
TCGA novel	1539	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753785442 CA957549	1539	P>S		No	ClinGen ExAC gnomAD
rs1287179107 CA341284588	1540	A>T		No	ClinGen TOPMed
CA341284580 rs1333842736	1541	L>H		No	ClinGen TOPMed
rs779872369 CA957548	1541	L>V		No	ClinGen ExAC gnomAD
RCV001213604 CA957547 rs374921762	1542	I>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1228267641 CA341284576	1542	I>V		No	ClinGen gnomAD
rs750046422 CA957546 RCV001067867	1544	S>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1131691612 RCV000493820 CA341284271 CA341284273	1546	L>*		No	ClinGen ClinVar dbSNP gnomAD
CA341284256 rs1211477643	1548	S>G		No	ClinGen gnomAD
rs750192063 CA957528 RCV001337910	1548	S>N		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA341284248 rs1282667368	1548	S>R		No	ClinGen gnomAD
CA341284220 rs1225825438	1551	W>*		No	ClinGen gnomAD
CA341284215 rs1340746441	1551	W>C		No	ClinGen Ensembl
RCV001242101 CA341284192 rs1354737408	1553	N>K		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs780931193 CA957527	1555	Q>R		No	ClinGen ExAC gnomAD
RCV001208610 CA341284164 rs1385119665	1556	R>K		No	ClinGen ClinVar dbSNP gnomAD
rs1401716074 VAR_084933 CA341284080	1557	Y>C	found in a patient with chorioretinal atrophy; unknown pathological significance [UniProt]	No	ClinGen UniProt dbSNP gnomAD
RCV001244518 rs1659914486	1561	S>missing		No	ClinVar dbSNP
rs1329136643 CA341284031	1562	I>M		No	ClinGen gnomAD
rs1360967221 CA341284038	1562	I>V		No	ClinGen gnomAD
CA341284008 rs1221076968	1565	K>R		No	ClinGen TOPMed
CA957509 rs752150372	1567	P>L		No	ClinGen ExAC gnomAD
CA957510 rs752150372	1567	P>R		No	ClinGen ExAC gnomAD
RCV001324746 CA957511 rs777311970	1567	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1416704262 CA341283979	1568	V>G		No	ClinGen gnomAD
CA957506 RCV001294800 rs373023236	1569	V>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs373023236 CA957507	1569	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489630277 CA341283964	1570	P>L		No	ClinGen TOPMed gnomAD
CA957505 rs766707707	1570	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000085665 rs281865381	1571	I>missing		No	ClinVar dbSNP
CA957504 rs761054421	1571	I>N		No	ClinGen ExAC gnomAD
rs185093512 CA341283947	1572	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA227228 RCV000085666 rs62641255	1572	T>S		No	ClinGen ClinVar Ensembl dbSNP
rs774279555 CA957500	1573	G>A		No	ClinGen ExAC gnomAD
CA341283936 rs1282472315	1574	E>*		No	ClinGen gnomAD
CA341283933 rs1557768944	1574	E>A		No	ClinGen Ensembl
CA957499 rs768843191	1575	A>P		No	ClinGen ExAC gnomAD
rs779572379 CA957498	1576	L>F		No	ClinGen ExAC TOPMed gnomAD
CA341283916 rs779572379	1576	L>V		No	ClinGen ExAC TOPMed gnomAD
rs757975622 CA957494	1581	S>N		No	ClinGen ExAC gnomAD
CA341283857 rs539124923	1581	S>R		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	1582	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26845237 rs963091295	1583	L>I		No	ClinGen TOPMed
rs1557768890 CA341283833	1584	G>S		No	ClinGen Ensembl
rs754298400 RCV000177682 COSM3741441 CA244215	1585	R>Q	liver [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA16603705 RCV000422838 rs745512565	1585	R>W		No	ClinGen ClinVar dbSNP gnomAD
CA957492 rs780574858	1586	I>T		No	ClinGen ExAC gnomAD
rs1318570138 CA341283818	1586	I>V		No	ClinGen gnomAD
CA341283809 rs1313766882	1587	M>L		No	ClinGen gnomAD
rs374931802 CA957490	1587	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA341283793 rs1571258380	1588	N>Y		No	ClinGen Ensembl
CA26845221 rs568632498	1590	S>N		No	ClinGen 1000Genomes
RCV000512709 rs1472640519 CA341283762	1591	G>E		No	ClinGen ClinVar TOPMed dbSNP
CA341283719 RCV001058053 rs1425552175	1592	G>D		No	ClinGen ClinVar dbSNP gnomAD
CA957463 rs751683384	1593	P>T		No	ClinGen ExAC gnomAD
rs1659903133 RCV001210757	1595	T>A		No	ClinVar dbSNP
rs1051609068 CA341283692	1595	T>I		No	ClinGen TOPMed gnomAD
CA26845044 rs1051609068	1595	T>N		No	ClinGen TOPMed gnomAD
TCGA novel	1595	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216892888 CA341283683	1597	E>K		No	ClinGen gnomAD
rs1216892888 CA341283684	1597	E>Q		No	ClinGen gnomAD
rs1281982868 CA341283676	1598	A>T		No	ClinGen TOPMed gnomAD
CA341283671 rs1441888355	1599	S>A		No	ClinGen TOPMed gnomAD
CA957460 rs765481184	1600	K>E		No	ClinGen ExAC gnomAD
rs1308726614 CA341283649	1602	I>V		No	ClinGen TOPMed
CA957459 rs773251303	1603	P>L		No	ClinGen ExAC TOPMed gnomAD
CA957458 rs773251303	1603	P>R		No	ClinGen ExAC TOPMed gnomAD
rs919216834 CA26845035	1603	P>S		No	ClinGen TOPMed gnomAD
rs1299117797 CA341283632	1605	F>I		No	ClinGen TOPMed gnomAD
rs1363935972 CA341283627	1605	F>L		No	ClinGen gnomAD
rs1299117797 CA341283631	1605	F>L		No	ClinGen TOPMed gnomAD
rs771717115 CA957457	1605	F>Y		No	ClinGen ExAC gnomAD
CA957456 rs761702897	1606	L>F		No	ClinGen ExAC gnomAD
rs1659901149 RCV001211274	1606	L>P		No	ClinVar dbSNP
RCV001211275 CA26845013 rs151145662	1608	H>R		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs889448722 CA26845008	1610	E>K		No	ClinGen TOPMed gnomAD
rs756121599 CA26844995	1612	E>K		No	ClinGen TOPMed gnomAD
CA341283580 rs1476762749 RCV001234072	1613	D>N		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	1616	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1616	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA235748 RCV000171155 rs786205446	1618	W>R		No	ClinGen ClinVar Ensembl dbSNP
VAR_084936	1618	W>del		No	UniProt
CA341283231 rs1320443166	1619	F>V		No	ClinGen TOPMed
rs1659893012 RCV001230563	1620	N>I		No	ClinVar dbSNP
CA957437 rs762559154	1620	N>K		No	ClinGen ExAC gnomAD
CA957436 rs775170464	1621	N>Y		No	ClinGen ExAC gnomAD
RCV000085679 CA227246 rs61750157	1623	G>S		No	ClinGen ClinVar Ensembl dbSNP
rs1571257969 CA341283199 VAR_084937 RCV000994039	1623	G>V	unknown pathological significance [UniProt]	No	ClinGen ClinVar UniProt Ensembl dbSNP
CA227248 rs61752440 RCV000085680	1625	H>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA26844877 rs972980821	1625	H>R		No	ClinGen Ensembl
rs761852336 CA26844872	1626	A>G		No	ClinGen Ensembl
CA341283169 rs1557768562	1628	V>A		No	ClinGen Ensembl
CA341283166 rs1251460797	1629	S>G		No	ClinGen TOPMed
rs1401059317 CA341283161	1629	S>R		No	ClinGen gnomAD
rs1659891925 RCV001351774	1630	F>S		No	ClinVar dbSNP
CA957433 rs745413308	1632	N>S		No	ClinGen ExAC gnomAD
rs1422814365 CA341283130	1634	A>G		No	ClinGen gnomAD
RCV000596212 rs1553188613 CA341283131	1634	A>S		No	ClinGen ClinVar Ensembl dbSNP
CA341283129 rs1422814365	1634	A>V		No	ClinGen gnomAD
CA341283121 rs1571257903	1635	H>Q		No	ClinGen Ensembl
rs1458733281 CA341283094	1639	L>F		No	ClinGen gnomAD
CA341283092 rs61751404	1640	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1261008142 CA341283088	1641	A>T		No	ClinGen TOPMed
rs753969320 CA957428	1643	L>V		No	ClinGen ExAC gnomAD
rs757217216 CA957425	1645	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1314399132 CA341283054	1646	D>E		No	ClinGen gnomAD
rs903548005 CA26844838	1646	D>Y		No	ClinGen Ensembl
CA957424 rs751534907	1647	R>G		No	ClinGen ExAC gnomAD
rs1165272649 CA341283043	1648	S>N		No	ClinGen TOPMed
rs1335975904 CA341283036	1649	P>R		No	ClinGen gnomAD
rs61750159 RCV000085686	1650	E>missing		No	ClinVar dbSNP
rs762754528 RCV001091941 CA957422	1650	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001300543 COSM1688053 CA957421 rs775080600	1651	E>K	skin [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA227259 RCV000085688 rs61750561	1652	Y>*		No	ClinGen ClinVar Ensembl dbSNP
RCV001239417 COSM230452 CA957419 rs758912686 RCV001587268	1656	V>I	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA341282994 rs758912686	1656	V>L		No	ClinGen ExAC TOPMed gnomAD
CA341282985 rs1472135045	1657	I>S		No	ClinGen TOPMed gnomAD
RCV001222600 rs1659887933	1658	S>R		No	ClinVar dbSNP
rs776189664 CA957418	1658	S>R		No	ClinGen ExAC gnomAD
rs149324169 CA957417	1659	Q>E		No	ClinGen ESP ExAC gnomAD
rs1571257802 CA341282971	1659	Q>H		No	ClinGen Ensembl
rs149324169 CA341282975	1659	Q>K		No	ClinGen ESP ExAC gnomAD
rs1293572527 CA341282952	1662	N>K		No	ClinGen TOPMed
rs1571257788 CA341282949 TCGA novel	1663	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs773880325 RCV001247308 CA957416	1666	E>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200443984 CA957414	1666	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA957415 RCV001312651 rs773880325	1666	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1056269972 CA26844798	1667	Q>H		No	ClinGen Ensembl
rs61753018 RCV000085689 CA227261	1667	Q>K		No	ClinGen ClinVar ExAC TOPMed dbSNP
rs779222611 CA957413	1667	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1291211325 CA341282920	1668	L>F		No	ClinGen gnomAD
CA957412 rs768914472	1669	S>L		No	ClinGen ExAC TOPMed gnomAD
CA957411 rs749543290	1671	I>M		No	ClinGen ExAC TOPMed gnomAD
CA341282893 rs1489817062	1672	T>I		No	ClinGen gnomAD
CA957409 rs756194251	1673	V>M		No	ClinGen ExAC gnomAD
rs375156009 CA957389	1675	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375156009 CA957390 RCV001067374	1675	T>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341282862 rs1198088902	1676	T>I		No	ClinGen gnomAD
CA26844070 rs888733588	1678	V>A		No	ClinGen TOPMed gnomAD
RCV001064188 rs1659845637	1678	V>M		No	ClinVar dbSNP
rs760206966 CA957385	1679	D>N		No	ClinGen ExAC gnomAD
COSM329102 CA341282821 rs1402394753	1683	A>V	Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs769711425 CA26844062	1684	I>N		No	ClinGen gnomAD
CA341282809 rs1217176859	1685	C>Y		No	ClinGen gnomAD
CA957382 rs6681879	1686	V>A		No	ClinGen ExAC gnomAD
CA26844051 rs6681879	1686	V>G		No	ClinGen ExAC gnomAD
CA957381 rs201996979	1687	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1243438233 CA341282790	1688	F>L		No	ClinGen TOPMed
RCV001312716 rs1333985048 CA341282780	1690	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1659842921 RCV001319029	1695	A>D		No	ClinVar dbSNP
CA341282744 rs1424418191	1696	S>G		No	ClinGen gnomAD
rs61750564 CA957378	1696	S>I		No	ClinGen ExAC TOPMed gnomAD
CA957377 rs776687457	1697	F>C		No	ClinGen ExAC TOPMed gnomAD
CA341282723 rs1178161569	1699	L>F		No	ClinGen gnomAD
rs1456520760 CA341282703	1702	I>V		No	ClinGen gnomAD
rs1044818989 COSM221282 CA341282679	1706	V>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1044818989 CA26844010	1706	V>M		No	ClinGen gnomAD
RCV000498790 rs778747291 CA957374	1710	K>Q		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	1710	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754737758 CA957373	1711	H>P		No	ClinGen ExAC gnomAD
rs560385739 CA957372	1711	H>Q		No	ClinGen ExAC gnomAD
CA341282639 rs1407166926	1712	L>F		No	ClinGen TOPMed
CA957370 rs755826006	1713	Q>R		No	ClinGen ExAC gnomAD
rs1012443608 CA26843987	1714	F>L		No	ClinGen TOPMed gnomAD
rs1448246859 CA341282604 RCV001306828	1717	G>E		No	ClinGen ClinVar dbSNP gnomAD
CA341282593 rs1301504030	1719	S>I		No	ClinGen gnomAD
CA341282595 rs1402117430	1719	S>R		No	ClinGen gnomAD
rs781126638 CA26843983	1720	P>S		No	ClinGen ExAC TOPMed gnomAD
rs781126638 CA957369	1720	P>T		No	ClinGen ExAC TOPMed gnomAD
RCV000994037 rs1571256634 CA341282559	1724	W>S		No	ClinGen ClinVar Ensembl dbSNP
CA957367 rs756847090	1725	V>M		No	ClinGen ExAC gnomAD
rs1419636627 CA341282544	1726	T>I		No	ClinGen TOPMed gnomAD
rs1419636627 CA341282546	1726	T>N		No	ClinGen TOPMed gnomAD
CA957365 rs764510820	1727	N>K		No	ClinGen ExAC gnomAD
CA957366 rs201657029	1727	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1280693634 CA341282527	1729	L>F		No	ClinGen gnomAD
CA957364 rs200037640	1731	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs940382049	1732	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341281807 rs1193466111 CA341281810	1733	M>I		No	ClinGen TOPMed gnomAD
CA26842569 rs866788020	1736	S>F		No	ClinGen Ensembl
CA957343 rs761017794	1737	V>M		No	ClinGen ExAC TOPMed gnomAD
RCV000085711 rs281865403	1738	S>missing		No	ClinVar dbSNP
CA244860 rs794727593 RCV000177895	1740	G>E		No	ClinGen ClinVar Ensembl dbSNP
CA341281734 rs1320450199	1740	G>W		No	ClinGen gnomAD
RCV000085713 rs61750570	1742	V>missing		No	ClinVar dbSNP
rs1468259749 CA341281726	1742	V>M		No	ClinGen gnomAD
rs1302819174 CA341281716	1743	V>A		No	ClinGen TOPMed
rs769668293 CA957338	1745	I>M		No	ClinGen ExAC TOPMed gnomAD
CA341281706 rs1232880489	1745	I>N		No	ClinGen gnomAD
CA957339 RCV001351989 rs775593910	1745	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs377680438 CA957336	1747	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745658425 CA957337	1747	I>V		No	ClinGen ExAC TOPMed
rs1659719374 RCV001209313	1748	G>E		No	ClinVar dbSNP
rs61753025 CA957334	1748	G>W		No	ClinGen ExAC gnomAD
rs61753026 RCV000085715 CA227291	1750	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA341281670 rs1330632924	1751	K>E		No	ClinGen gnomAD
rs757975876 CA957333	1752	K>T		No	ClinGen ExAC gnomAD
CA341281651 RCV001212363 rs1249295549	1753	A>V		No	ClinGen ClinVar TOPMed dbSNP
rs1477513571 CA341281629	1757	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	1758	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571254059 CA341281614	1759	N>T		No	ClinGen Ensembl
rs755278800 CA957330	1760	L>I		No	ClinGen ExAC gnomAD
rs1454355504 CA341281604	1761	P>S		No	ClinGen gnomAD
rs61753027 RCV000085717	1761	P>missing		No	ClinVar dbSNP
rs121909206 CA341281595	1762	A>V	Cone-rod dystrophy 3 (cord3) [Ensembl]	No	ClinGen gnomAD
rs1434692591 CA341281578	1765	A>V		No	ClinGen TOPMed gnomAD
CA341281561 rs1274228304	1769	L>M		No	ClinGen gnomAD
rs760780770 CA957327	1770	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA957326 rs750709182	1771	G>V		No	ClinGen ExAC gnomAD
RCV001201922 rs1659674437	1773	A>missing		No	ClinVar dbSNP
RCV001209926 VAR_084943 rs760549861	1773	A>E	found in a patient with chorioretinal atrophy; unknown pathological significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity [UniProt]	No	ClinVar dbSNP UniProt
rs1472064768 CA341281526	1773	A>S		No	ClinGen gnomAD
CA26842140 rs927897822	1774	V>A		No	ClinGen TOPMed gnomAD
CA227300 rs281865404 RCV000085722	1776	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs773822474 CA957298	1777	M>I		No	ClinGen ExAC gnomAD
rs1354160676 CA341281496	1778	M>I		No	ClinGen gnomAD
rs768206358 CA957297	1778	M>L		No	ClinGen ExAC gnomAD
RCV001305960 rs748706582	1778	M>R		No	ClinVar dbSNP
rs748706582 CA957296	1778	M>T		No	ClinGen ExAC gnomAD
CA341281486 rs121909207	1780	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA341281459 rs746252741	1784	L>P		No	ClinGen ExAC gnomAD
rs781464157 CA957293	1786	D>Y		No	ClinGen ExAC gnomAD
CA341281422 rs1420614924	1790	T>S		No	ClinGen gnomAD
CA916237162 rs1553187929	1791	A>L		No	ClinGen TOPMed
CA341281407 rs1166219309	1792	Y>S		No	ClinGen gnomAD
CA341281384 rs1275948044	1796	S>A		No	ClinGen TOPMed
rs753678303 CA957289	1797	C>Y		No	ClinGen ExAC gnomAD
rs202199507 CA341281341	1802	I>M		No	ClinGen ExAC TOPMed gnomAD
rs974596881 CA26842102	1802	I>V		No	ClinGen TOPMed gnomAD
CA26842098 rs868338484	1803	G>D		No	ClinGen Ensembl
rs755666756 RCV001232518 CA26842100 COSM1181248	1803	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
rs1659671020 RCV001305964	1806	S>N		No	ClinVar dbSNP
rs761435921 CA957285	1807	S>N		No	ClinGen ExAC TOPMed gnomAD
CA26842095 rs1004237594	1808	A>G		No	ClinGen gnomAD
rs1004237594 CA341281303	1808	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1395978584 CA341281301	1809	I>V		No	ClinGen gnomAD
CA341281295 rs1440037162	1810	T>A		No	ClinGen TOPMed gnomAD
rs1327166984 CA341281291	1810	T>I		No	ClinGen gnomAD
CA26842093 rs955581838	1811	F>L		No	ClinGen Ensembl
CA957284 rs774018249	1812	I>N		No	ClinGen ExAC TOPMed gnomAD
CA341281257 rs1172983360	1815	L>S		No	ClinGen gnomAD
CA341281259 rs1398632105	1815	L>V		No	ClinGen gnomAD
VAR_012597	1817	E>D		No	UniProt
CA957283 rs768118386	1818	N>S		No	ClinGen ExAC gnomAD
rs748806015 CA341281222	1820	R>G		No	ClinGen ExAC TOPMed gnomAD
CA957281 rs62646875	1820	R>Q		No	ClinGen ExAC gnomAD
rs748806015 CA957282	1820	R>W		No	ClinGen ExAC TOPMed gnomAD
CA957244 rs774891564	1821	T>M		No	ClinGen ExAC TOPMed gnomAD
CA26838310 rs1013900084	1824	R>G		No	ClinGen Ensembl
TCGA novel	1826	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1688052 CA341281174 rs1417966624	1826	N>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA341281170 rs530098237	1827	A>S		No	ClinGen ExAC TOPMed gnomAD
CA957237 rs777210277	1828	V>E		No	ClinGen ExAC
CA957238 rs200297761 COSM1181246	1828	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs773682021 CA957234	1830	R>K		No	ClinGen ExAC gnomAD
CA341281127 rs1443219544	1834	I>M		No	ClinGen TOPMed
CA957232 rs748355733	1834	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1181104943 CA341281126	1835	V>F		No	ClinGen TOPMed
CA957229 rs749345027	1836	F>C		No	ClinGen ExAC gnomAD
rs370698226 CA957230	1836	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000994035 rs1571250077 CA341281109	1837	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs1321639616 CA341281112	1837	P>T		No	ClinGen gnomAD
rs946348819 CA26838261	1840	C>F		No	ClinGen TOPMed gnomAD
rs946348819 RCV001315371	1840	C>Y		No	ClinVar dbSNP
CA26838254 rs201843632	1842	G>C		No	ClinGen ExAC gnomAD
rs201843632 CA957226	1842	G>R		No	ClinGen ExAC gnomAD
CA341281080 rs62642576	1843	R>G		No	ClinGen ESP TOPMed gnomAD
CA957225 rs777519184	1843	R>Q		No	ClinGen ExAC gnomAD
CA26838238 rs531109296	1852	Q>E		No	ClinGen 1000Genomes
rs374687000 CA26838232	1854	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs367565445 CA26838227	1855	T>I		No	ClinGen gnomAD
rs367565445 CA341281008	1855	T>K		No	ClinGen gnomAD
CA957221 rs766026374	1858	Y>C		No	ClinGen ExAC gnomAD
rs1048710159 CA26838220	1859	A>G		No	ClinGen Ensembl
RCV001308039 rs761240030 CA957220	1860	R>Q		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA26838213 rs200849015	1860	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA26838075 rs565564468	1862	G>D		No	ClinGen Ensembl
rs774570747 CA957199 RCV001337202	1863	E>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs775714847 CA957196	1866	S>A		No	ClinGen ExAC gnomAD
rs769828014 CA957195	1866	S>F		No	ClinGen ExAC gnomAD
rs1038356365 CA26838050	1870	F>S		No	ClinGen TOPMed
CA957192 rs748184137	1872	W>*		No	ClinGen ExAC gnomAD
rs1362270708 CA341280896	1872	W>R		No	ClinGen TOPMed gnomAD
rs748907485 CA957190	1873	D>E		No	ClinGen ExAC TOPMed gnomAD
CA957191 rs778550733	1873	D>G		No	ClinGen ExAC gnomAD
rs1439852249 CA341280858	1877	K>N		No	ClinGen gnomAD
RCV001230624 rs369973540	1881	A>D		No	ClinVar dbSNP
rs62642577 RCV000085745 CA227325	1882	M>V		No	ClinGen ClinVar Ensembl dbSNP
rs932230306 CA26838019	1883	V>M		No	ClinGen Ensembl
CA341280812 rs1471999709	1885	E>D		No	ClinGen TOPMed
rs764320529 CA341280805	1887	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764320529 RCV000426578 CA957182	1887	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA26838000 rs960046683	1888	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1659523810 RCV001318690	1889	Y>N		No	ClinVar dbSNP
CA341280786 rs1422282959	1890	F>V		No	ClinGen gnomAD
rs1357586196 CA341280763	1894	L>V		No	ClinGen TOPMed
CA341280756 rs1265846081	1895	L>P		No	ClinGen gnomAD
rs759813536 CA957180	1896	V>F		No	ClinGen ExAC TOPMed gnomAD
CA957179 rs759813536	1896	V>I		No	ClinGen ExAC TOPMed gnomAD
CA957177 VAR_085025 RCV001311639 rs201357151	1898	R>C	does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA341280737 rs1282177135	1899	H>D		No	ClinGen gnomAD
CA341280734 rs1222067045	1899	H>R		No	ClinGen gnomAD
CA341280712 rs1290742522	1902	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs865939248 CA26837331	1905	W>*		No	ClinGen Ensembl
TCGA novel	1905	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs949868061 CA26837328	1907	A>S		No	ClinGen TOPMed gnomAD
CA26837324 rs913381989	1907	A>V		No	ClinGen TOPMed gnomAD
rs543742946 CA957127	1908	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA26837320 rs543742946	1908	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1443256833 CA341280516	1910	T>I		No	ClinGen gnomAD
rs974288771 CA26837317	1912	E>G		No	ClinGen gnomAD
RCV001221851 rs145299063 CA957126	1912	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1557762858 CA341280473	1914	I>T		No	ClinGen Ensembl
rs188889364 CA26837313	1915	V>A		No	ClinGen 1000Genomes
CA341280458 rs1477910485	1916	D>H		No	ClinGen gnomAD
CA957125 rs780346932	1916	D>V		No	ClinGen ExAC gnomAD
RCV001091510 rs1659470705	1918	D>V		No	ClinVar dbSNP
TCGA novel	1918	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001339012 CA957124 rs756324586	1919	D>Y		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs750720276 CA957123	1920	D>N		No	ClinGen ExAC gnomAD
CA26837305 rs985680910	1920	D>V		No	ClinGen TOPMed gnomAD
CA341280376 rs1178700065	1922	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA341280381 rs1436257994	1922	A>S		No	ClinGen gnomAD
CA341280364 rs1483230252	1923	E>G		No	ClinGen gnomAD
CA341280310 rs1305924893	1927	R>K		No	ClinGen TOPMed
rs1239043938 CA341280284	1929	I>L		No	ClinGen gnomAD
rs1315622875 CA341280266	1930	T>I		No	ClinGen gnomAD
CA26837293 rs954069176	1931	G>A		No	ClinGen TOPMed
rs1030110768 CA26837289	1936	D>G		No	ClinGen TOPMed gnomAD
rs752617721 CA957120	1937	I>L		No	ClinGen ExAC gnomAD
rs765282381 CA957119	1937	I>T		No	ClinGen ExAC gnomAD
CA26837279 rs112853114	1938	L>S		No	ClinGen Ensembl
rs1659465707 RCV001220524	1941	H>missing		No	ClinVar dbSNP
CA957116 rs772881159	1942	E>V		No	ClinGen ExAC gnomAD
rs771504096 CA957115	1945	K>M		No	ClinGen ExAC gnomAD
CA957099 rs767141052	1946	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1263157981 CA341280034	1946	I>V		No	ClinGen TOPMed gnomAD
VAR_085027	1948	P>S		No	UniProt
rs1174706469 CA341279994	1949	G>D		No	ClinGen TOPMed gnomAD
CA341279982 rs1215922056	1950	T>N		No	ClinGen TOPMed gnomAD
CA341279967 rs1440451733	1951	S>F		No	ClinGen TOPMed
CA957098 rs768097538	1951	S>P		No	ClinGen ExAC gnomAD
rs763465478 CA957097	1952	S>G		No	ClinGen ExAC gnomAD
rs1300315152 CA341279919	1955	V>A		No	ClinGen TOPMed
TCGA novel	1955	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553187228 RCV000498153	1956	D>missing		No	ClinVar dbSNP
CA341279887 rs916003424	1958	L>V		No	ClinGen TOPMed gnomAD
rs1379929424 CA341279858	1960	V>I		No	ClinGen gnomAD
CA957093 rs747276412	1962	V>A		No	ClinGen ExAC TOPMed gnomAD
rs62642059 RCV000085771	1963	R>missing		No	ClinVar dbSNP
COSM1688050 rs777887467 CA957092	1963	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA957091 rs758431657 COSM1638007	1963	R>H	bone [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753741017 CA341279834	1964	P>H		No	ClinGen ExAC gnomAD
rs753741017 CA957090	1964	P>L		No	ClinGen ExAC gnomAD
CA341279835 rs1460131190	1964	P>S		No	ClinGen gnomAD
CA341279740 rs1220912878	1968	F>L		No	ClinGen gnomAD
rs745851261 CA957066	1969	G>V		No	ClinGen ExAC gnomAD
rs886044756 CA26836823	1970	L>R		No	ClinGen TOPMed
RCV000085775 rs61753035 CA227353	1972	G>R		No	ClinGen ClinVar Ensembl dbSNP
RCV001240501 rs1659429852	1974	N>S		No	ClinVar dbSNP
CA26836791 rs867079318	1977	G>D		No	ClinGen gnomAD
CA957061 rs752147871	1981	T>I		No	ClinGen ExAC gnomAD
CA26836782 rs142123094	1981	T>P		No	ClinGen ESP
rs1413097229 CA341279585	1982	F>S		No	ClinGen gnomAD
rs1187562067 CA341279575	1983	K>E		No	ClinGen gnomAD
rs61748516 CA227360	1984	M>T		No	ClinGen Ensembl
rs760098992 CA957059	1986	T>N		No	ClinGen ExAC TOPMed gnomAD
rs61750640 RCV000085781	1988	D>missing		No	ClinVar dbSNP
CA957057 rs766811018	1989	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1989	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341279471 rs1331016486	1991	V>A		No	ClinGen gnomAD
rs1571247241 CA341279466	1992	T>P		No	ClinGen Ensembl
rs1659426203 RCV001066937	1992	T>missing		No	ClinVar dbSNP
CA341279450 rs1167285635	1993	S>A		No	ClinGen TOPMed
CA341279455 rs1167285635	1993	S>T		No	ClinGen TOPMed
CA26836741 rs267598772	1994	G>R		No	ClinGen Ensembl
CA957056 rs141489669	1995	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1999	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1005610645 CA26836730	2000	G>C		No	ClinGen TOPMed gnomAD
TCGA novel	2002	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341279346 rs1305769551	2002	S>C		No	ClinGen TOPMed
rs1450102205 CA341279226	2005	T>A		No	ClinGen gnomAD
rs1192886414 CA341279212	2007	I>V		No	ClinGen gnomAD
rs761889058 CA957037	2008	S>C		No	ClinGen ExAC gnomAD
RCV000430956 CA16603795 rs1057523778	2011	H>Y		No	ClinGen ClinVar Ensembl dbSNP
CA341279173 rs1248217831	2012	Q>E		No	ClinGen gnomAD
rs1571245857 CA341279170	2012	Q>P		No	ClinGen Ensembl
rs774582273 CA957036	2013	N>S		No	ClinGen ExAC gnomAD
rs1436856077 CA341279132	2015	G>C		No	ClinGen gnomAD
CA26835481 rs1012284944	2015	G>D		No	ClinGen TOPMed
TCGA novel	2019	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763030891 CA957034	2021	D>V		No	ClinGen ExAC gnomAD
rs1762114 CA341279057	2023	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA957032 rs747011478	2024	D>N		No	ClinGen ExAC TOPMed gnomAD
CA957031 rs777410156	2025	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA957030 rs183398940	2032	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779751119 CA957028	2036	Y>*		No	ClinGen ExAC gnomAD
rs756555985 CA957027	2037	A>T		No	ClinGen ExAC gnomAD
CA341278937 rs1469384146	2039	L>I		No	ClinGen gnomAD
rs148460146 CA341278921 RCV000994032	2040	R>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001057253 rs138384263 CA957025	2042	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA26835369 rs866555749	2043	P>L		No	ClinGen gnomAD
rs763230559 RCV001065980 CA957024	2043	P>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	2046	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA957022 rs755513058	2048	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV001340590 CA957021 rs760481450	2049	K>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1336879013 CA341278397	2051	A>V		No	ClinGen Ensembl
rs1256218315 CA341278392	2052	N>D		No	ClinGen TOPMed gnomAD
CA956999 rs761879757	2052	N>K		No	ClinGen ExAC TOPMed gnomAD
CA956998 rs774264864	2053	W>R		No	ClinGen ExAC TOPMed gnomAD
CA956997 rs768592753	2056	K>R		No	ClinGen ExAC TOPMed gnomAD
VAR_012606	2059	G>A		No	UniProt
rs748905369 CA956996	2059	G>D		No	ClinGen ExAC TOPMed gnomAD
rs769125527 CA956994	2061	T>S		No	ClinGen ExAC gnomAD
RCV000280872 rs886042319	2062	V>missing		No	ClinVar dbSNP
rs769706474 CA26832677	2062	V>A		No	ClinGen Ensembl
rs1322454000 CA341278323	2062	V>L		No	ClinGen gnomAD
CA26832669 rs959036320	2063	Y>C		No	ClinGen TOPMed
CA227375 rs61753040 RCV000085794	2064	A>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA956991 rs757733177	2065	D>E		No	ClinGen ExAC gnomAD
CA10605692 rs886043588 RCV000361224	2065	D>H		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel rs886043588 RCV001319810	2065	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinVar NCI-TCGA dbSNP
rs146991223 CA956990	2066	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA341278285 rs1243623408	2068	A>V		No	ClinGen TOPMed
rs151212933 CA26832622	2070	T>A		No	ClinGen ESP TOPMed gnomAD
CA956989 rs778066205	2070	T>M		No	ClinGen ExAC gnomAD
RCV001340926 rs1659197227	2071	Y>N		No	ClinVar dbSNP
RCV000596944 CA341278263 rs1553186514	2072	S>N		No	ClinGen ClinVar Ensembl dbSNP
rs752850266 RCV000494048 CA956987	2073	G>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA956986 rs367839100	2074	G>D	Cone-rod dystrophy 3 (cord3) [Ensembl]	No	ClinGen ESP ExAC gnomAD
rs1165659113 CA341278238	2076	K>T		No	ClinGen TOPMed
rs1659195585 RCV001053427	2078	K>N		No	ClinVar dbSNP
CA956984 rs753921905	2079	L>F		No	ClinGen ExAC gnomAD
CA341278217 rs1346127078	2080	S>A		No	ClinGen TOPMed
CA341278214 rs1470665745	2080	S>F		No	ClinGen Ensembl
CA341278208 rs1447707905	2081	T>I		No	ClinGen TOPMed
RCV001232207 rs1659195030	2082	A>V		No	ClinVar dbSNP
CA956983 rs1801359	2083	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA956982 rs774460912	2084	A>V		No	ClinGen ExAC gnomAD
CA956981 rs763910995	2085	L>F		No	ClinGen ExAC gnomAD
CA956980 rs775204417	2086	I>T		No	ClinGen ExAC gnomAD
CA341278176 rs1286313373	2086	I>V		No	ClinGen TOPMed
rs769480667 CA956979	2087	G>A		No	ClinGen ExAC gnomAD
CA956978 rs745550950	2088	C>W		No	ClinGen ExAC gnomAD
CA956977 rs533271864	2090	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs533271864 CA341278118	2090	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA341278095 rs1427296561	2092	V>A		No	ClinGen gnomAD
rs1064793015 CA341277634	2095	D>G		No	ClinGen gnomAD
CA16617199 rs1064793015 RCV000483911	2095	D>V		No	ClinGen ClinVar dbSNP gnomAD
CA956911 rs747046963	2097	P>R		No	ClinGen ExAC TOPMed gnomAD
rs61750647 RCV000085805	2101	M>missing		No	ClinVar dbSNP
rs1291006472 CA341277599	2101	M>L		No	ClinGen TOPMed
RCV001052521 rs1659161479	2101	M>R		No	ClinVar dbSNP
RCV001240517 rs568627877 CA956910	2102	D>E		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA341277588 rs1409314346	2102	D>G		No	ClinGen gnomAD
TCGA novel	2104	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001321174 rs1659161167	2104	Q>R		No	ClinVar dbSNP
CA956908 rs749244504	2105	A>T		No	ClinGen ExAC gnomAD
rs1659160781 RCV001212625	2106	R>missing		No	ClinVar dbSNP
rs62642564 CA227390 RCV000085808	2107	R>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2297669 CA26831758 RCV000596790	2107	R>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1239999508 CA341277538	2111	N>D		No	ClinGen gnomAD
CA341277533 rs371572812	2111	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	2111	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001241899 rs571031879 CA956903	2112	V>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs763507963 CA956901	2113	I>L		No	ClinGen ExAC gnomAD
CA227394 RCV000085810 rs61750649	2113	I>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs759996549 CA956898	2114	V>A		No	ClinGen ExAC gnomAD
CA341277509 rs771055152	2116	I>F		No	ClinGen ExAC TOPMed gnomAD
CA956896 rs760999534	2116	I>N		No	ClinGen ExAC gnomAD
CA956897 rs771055152	2116	I>V		No	ClinGen ExAC TOPMed gnomAD
rs61750650 RCV000085813	2118	R>missing		No	ClinVar dbSNP
rs1367443683 CA341277490	2119	E>K		No	ClinGen gnomAD
TCGA novel	2121	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs532732547 CA956894	2123	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749156523 CA956893	2124	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2124	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA956892 rs779979701	2126	T>S		No	ClinGen ExAC
rs1448197591 CA341277372	2135	A>T		No	ClinGen gnomAD
rs761867791 CA956878	2139	R>Q	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA341277342 rs774475956 RCV000994031	2140	L>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1193084148 CA341277340	2141	A>T		No	ClinGen gnomAD
rs1184801813 RCV000756941 CA341277330	2142	I>M		No	ClinGen ClinVar dbSNP gnomAD
rs769683820 CA956876 RCV001324176	2142	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM426857 rs1286076948 CA341277327	2143	M>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
COSM1684841 rs866475838 CA26831556	2144	V>I	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA341277309 rs898249950 CA26831555	2145	K>N		No	ClinGen TOPMed gnomAD
CA956874 rs780798765	2148	F>L		No	ClinGen ExAC gnomAD
RCV001209848 CA956873 rs61750655	2149	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs61750656 CA341277288	2150	C>G		No	ClinGen TOPMed
rs758183365 CA956872	2151	M>T		No	ClinGen ExAC gnomAD
CA341277282 rs1345664981	2151	M>V		No	ClinGen gnomAD
CA341277269 rs1432914742	2153	T>A		No	ClinGen TOPMed
TCGA novel	2155	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2156	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1168957685 CA341277222	2159	S>F		No	ClinGen gnomAD
CA956857 rs545397722	2162	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1035347620 CA26829098	2163	D>N		No	ClinGen Ensembl
CA341276737 rs1395925042	2164	G>S		No	ClinGen gnomAD
RCV000085825 rs61751379 CA227410	2166	I>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200658526 CA956854	2166	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs761087853 CA956852	2167	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2169	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA956851 rs780593170	2169	M>V		No	ClinGen ExAC TOPMed gnomAD
CA341276690 rs1182518547	2171	I>F		No	ClinGen gnomAD
rs756641536 RCV001235126 CA956850	2174	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs63749079 RCV000085826	2175	K>missing		No	ClinVar dbSNP
rs1267125220 CA341276624	2181	D>A		No	ClinGen gnomAD
rs63749058 RCV000085828	2182	L>missing		No	ClinVar dbSNP
rs751809329 CA956847	2183	N>K		No	ClinGen ExAC gnomAD
rs1279621803 CA341276602	2184	P>L		No	ClinGen gnomAD
rs1243362165 CA341276600	2185	V>L		No	ClinGen gnomAD
TCGA novel	2186	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341276583 rs1339233014	2187	Q>R		No	ClinGen TOPMed gnomAD
RCV000085830 rs61751381	2190	Q>missing		No	ClinVar dbSNP
TCGA novel	2191	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341276547 rs186908930	2192	N>S		No	ClinGen 1000Genomes gnomAD
CA26828980 rs186908930	2192	N>T		No	ClinGen 1000Genomes gnomAD
CA341276534 rs1175215643	2194	P>A		No	ClinGen TOPMed
rs775491217 CA956845	2196	S>C		No	ClinGen ExAC gnomAD
CA341276521 rs1402664483	2196	S>N		No	ClinGen gnomAD
CA341276520 rs1402664483	2196	S>T		No	ClinGen gnomAD
CA341276502 rs1357360122	2199	R>G		No	ClinGen TOPMed
rs766336439 CA956844	2199	R>K		No	ClinGen ExAC gnomAD
rs1020796297 CA26828902	2200	E>D		No	ClinGen TOPMed gnomAD
rs760573590 CA956843	2200	E>K		No	ClinGen ExAC TOPMed gnomAD
rs61751409 RCV000085833	2201	R>missing		No	ClinVar dbSNP
CA956842 rs773123480	2201	R>G		No	ClinGen ExAC TOPMed gnomAD
CA26828896 rs773123480	2201	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1366674524 CA341276473	2203	Y>C		No	ClinGen gnomAD
CA341276468 rs1571240056	2204	N>D		No	ClinGen Ensembl
rs772018688 CA956841	2205	M>V		No	ClinGen ExAC gnomAD
rs747764466 CA956840	2206	L>F		No	ClinGen ExAC gnomAD
CA956839 rs565752959	2207	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA341276441 rs1374099516	2208	F>L		No	ClinGen TOPMed
rs768248480 CA956838	2208	F>Y		No	ClinGen ExAC TOPMed gnomAD
COSM109797 rs145067079 CA26828845	2209	Q>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1448385291 CA341276432	2209	Q>R		No	ClinGen gnomAD
CA341276420 rs1224505996	2211	S>A		No	ClinGen TOPMed
rs748822256 CA956837	2211	S>F		No	ClinGen ExAC gnomAD
CA341276396 rs1488783322	2215	L>P		No	ClinGen gnomAD
rs886044763 CA341276391	2216	A>E		No	ClinGen TOPMed gnomAD
rs377678684 CA956834	2217	R>W		No	ClinGen ESP ExAC gnomAD
CA956833 rs746382656	2218	I>L		No	ClinGen ExAC gnomAD
CA956832 rs781494461	2219	F>S		No	ClinGen ExAC gnomAD
rs61753046 CA956831	2220	Q>K	Retinitis pigmentosa 19 (rp19) [Ensembl]	No	ClinGen 1000Genomes ExAC gnomAD
rs1403697239 CA341276367	2220	Q>R		No	ClinGen TOPMed gnomAD
CA341276361 rs1367504380	2221	L>H		No	ClinGen gnomAD
rs1571239957 RCV001009081	2224	S>missing		No	ClinVar dbSNP
rs752790640 CA956828	2225	H>Y		No	ClinGen ExAC gnomAD
rs765287252 CA956827	2226	K>R		No	ClinGen ExAC gnomAD
CA956826 rs200821403	2228	S>N		No	ClinGen ExAC TOPMed gnomAD
CA956825 rs1801626	2231	I>M		No	ClinGen ExAC gnomAD
rs1449421449 CA341276298	2231	I>T		No	ClinGen gnomAD
RCV001219955 rs774350716 CA956824	2232	E>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA26828714 rs1000816748	2235	S>A		No	ClinGen TOPMed
RCV000085844 rs62646877	2236	V>missing		No	ClinVar dbSNP
rs111698688 CA26828684	2236	V>A		No	ClinGen Ensembl
rs281865383 RCV000085846	2237	T>missing		No	ClinVar dbSNP
rs61751260 RCV000085845	2237	T>missing		No	ClinVar dbSNP
rs1216715608 CA341276255	2238	Q>E		No	ClinGen gnomAD
TCGA novel	2239	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001038128 rs1659051255	2241	L>P		No	ClinVar dbSNP
rs1316009444 CA341276231	2242	D>A		No	ClinGen gnomAD
TCGA novel	2243	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000085854 rs281865406	2250	K>missing		No	ClinVar dbSNP
CA26827387 rs777132940	2250	K>E		No	ClinGen gnomAD
CA956794 rs753934929	2251	Q>E		No	ClinGen ExAC gnomAD
CA26827362 rs887287405	2253	T>A		No	ClinGen Ensembl
rs201483150 CA26827356	2253	T>S		No	ClinGen Ensembl
CA26827355 rs201392741	2256	H>R		No	ClinGen 1000Genomes gnomAD
CA341275752 rs1571238939	2257	D>A		No	ClinGen Ensembl
CA341275756 rs1327249006	2257	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA956793 rs757212387	2258	L>F		No	ClinGen ExAC gnomAD
CA341275741 rs1224355849	2259	P>S		No	ClinGen TOPMed gnomAD
CA341275729 rs1571238931	2261	H>P		No	ClinGen Ensembl
rs1571238924 CA341275726	2261	H>Q		No	ClinGen Ensembl
CA341275720 rs1283482726	2262	P>R		No	ClinGen gnomAD
RCV001205545 rs998363634 CA26827332	2263	R>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
COSM682664 CA956789 rs281865407	2263	R>P	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA956790 rs281865407 RCV001314793	2263	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA956788 rs764794519	2266	G>R		No	ClinGen ExAC gnomAD
CA956785 rs765900918	2272	Q>K		No	ClinGen ExAC gnomAD
RCV001348092 CA956784 rs761134287	2272	Q>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1305529425 CA341275654	2273	D>Y		No	ClinGen gnomAD
rs1571237505 CA341275643	2274	D>C		No	ClinGen Ensembl

5 associated diseases with P78363

[MIM: 248200]: Stargardt disease 1 (STGD1)

A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269|PubMed:10090887, ECO:0000269|PubMed:10206579, ECO:0000269|PubMed:10612508, ECO:0000269|PubMed:10634594, ECO:0000269|PubMed:10711710, ECO:0000269|PubMed:10746567, ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:11328725, ECO:0000269|PubMed:11385708, ECO:0000269|PubMed:11527935, ECO:0000269|PubMed:11594993, ECO:0000269|PubMed:15192030, ECO:0000269|PubMed:18977788, ECO:0000269|PubMed:19265867, ECO:0000269|PubMed:20404325, ECO:0000269|PubMed:22735453, ECO:0000269|PubMed:23143460, ECO:0000269|PubMed:23144455, ECO:0000269|PubMed:23419329, ECO:0000269|PubMed:24097981, ECO:0000269|PubMed:24444108, ECO:0000269|PubMed:24457364, ECO:0000269|PubMed:25346251, ECO:0000269|PubMed:26780318, ECO:0000269|PubMed:29847635, ECO:0000269|PubMed:33375396, ECO:0000269|PubMed:9054934, ECO:0000269|PubMed:9490294, ECO:0000269|PubMed:9503029, ECO:0000269|PubMed:9781034, ECO:0000269|PubMed:9973280}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 248200]: Fundus flavimaculatus (FFM)

Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. {ECO:0000269|PubMed:10634594, ECO:0000269|PubMed:11379881, ECO:0000269|PubMed:11385708, ECO:0000269|PubMed:9781034}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 153800]: Macular degeneration, age-related, 2 (ARMD2)

A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269|PubMed:19028736, ECO:0000269|PubMed:9295268}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 604116]: Cone-rod dystrophy 3 (CORD3)

An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:10634594, ECO:0000269|PubMed:10958761, ECO:0000269|PubMed:11385708, ECO:0000269|PubMed:11527935, ECO:0000269|PubMed:25346251, ECO:0000269|PubMed:26780318}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 601718]: Retinitis pigmentosa 19 (RP19)

A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy. {ECO:0000269|PubMed:10634594, ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:25346251}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269|PubMed:10090887, ECO:0000269|PubMed:10206579, ECO:0000269|PubMed:10612508, ECO:0000269|PubMed:10634594, ECO:0000269|PubMed:10711710, ECO:0000269|PubMed:10746567, ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:11328725, ECO:0000269|PubMed:11385708, ECO:0000269|PubMed:11527935, ECO:0000269|PubMed:11594993, ECO:0000269|PubMed:15192030, ECO:0000269|PubMed:18977788, ECO:0000269|PubMed:19265867, ECO:0000269|PubMed:20404325, ECO:0000269|PubMed:22735453, ECO:0000269|PubMed:23143460, ECO:0000269|PubMed:23144455, ECO:0000269|PubMed:23419329, ECO:0000269|PubMed:24097981, ECO:0000269|PubMed:24444108, ECO:0000269|PubMed:24457364, ECO:0000269|PubMed:25346251, ECO:0000269|PubMed:26780318, ECO:0000269|PubMed:29847635, ECO:0000269|PubMed:33375396, ECO:0000269|PubMed:9054934, ECO:0000269|PubMed:9490294, ECO:0000269|PubMed:9503029, ECO:0000269|PubMed:9781034, ECO:0000269|PubMed:9973280}. Note=The disease is caused by variants affecting the gene represented in this entry.
Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. {ECO:0000269|PubMed:10634594, ECO:0000269|PubMed:11379881, ECO:0000269|PubMed:11385708, ECO:0000269|PubMed:9781034}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269|PubMed:19028736, ECO:0000269|PubMed:9295268}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:10634594, ECO:0000269|PubMed:10958761, ECO:0000269|PubMed:11385708, ECO:0000269|PubMed:11527935, ECO:0000269|PubMed:25346251, ECO:0000269|PubMed:26780318}. Note=The disease is caused by variants affecting the gene represented in this entry.
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy. {ECO:0000269|PubMed:10634594, ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:25346251}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for P78363

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	929 - 1160	IPR003439-1
domain	ABC transporter-like, ATP-binding domain	1938 - 2170	IPR003439-2
domain	AAA+ ATPase domain	955 - 1145	IPR003593-1
domain	AAA+ ATPase domain	1964 - 2148	IPR003593-2
domain	ABC-2 type transporter, transmembrane domain	611 - 856	IPR013525-1
domain	ABC-2 type transporter, transmembrane domain	1604 - 1895	IPR013525-2
conserved_site	ABC transporter-like, conserved site	1062 - 1076	IPR017871

Functions

		Description
EC Number	7.6.2.1	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Membrane ; Multi-pass membrane protein Endoplasmic reticulum Cytoplasmic vesicle Cell projection, cilium, photoreceptor outer segment	Localized to the rim and incisures of rod outer segments disks
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
photoreceptor disc membrane	Stack of disc membranes located inside a photoreceptor outer segment, and containing densely packed molecules of photoreceptor proteins that traverse the lipid bilayer. Disc membranes arise as evaginations of the ciliary membrane during the development of the outer segment and may or may not remain contiguous with the ciliary membrane.
photoreceptor outer segment	The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins.
rod photoreceptor disc membrane	Stack of disc membranes located inside a rod photoreceptor outer segment, and containing densely packed molecules of rhodopsin photoreceptor proteins that traverse the lipid bilayer. It is thought that rod disc membranes arise as evaginations of the ciliary membrane near the base of the outer segment, which then become completely separated from the ciliary membrane, during the development of the rod outer segment.

15 GO annotations of molecular function

Name	Definition
11-cis retinal binding	Binding to 11-cis retinal, an isomer of retinal that plays an important role in the visual process in most vertebrates. 11-cis retinal combines with opsin in the rods (scotopsin) to form rhodopsin or visual purple. Retinal is one of the three compounds that makes up vitamin A.
ABC-type transporter activity	Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane.
all-trans retinal binding	Binding to all-trans retinal, a compound that plays an important role in the visual process in most vertebrates. All-trans retinal (trans r., visual yellow) results from the bleaching of rhodopsin by light, in which the 11-cis form is converted to the all-trans form. Retinal is one of the forms of vitamin A.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled intramembrane lipid transporter activity	Catalysis of the movement of lipids from one membrane leaflet to the other, driven by ATP hydrolysis. This includes flippases and floppases.
ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
flippase activity	Catalysis of the movement of lipids from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP.
GTPase activity	Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
lipid transporter activity	Enables the directed movement of lipids into, out of or within a cell, or between cells.
N-retinylidene-phosphatidylethanolamine flippase activity	Catalysis of the movement of N-retinylidene-N-retinylphosphatidylethanolamine from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP.
phosphatidylethanolamine flippase activity	Catalysis of the movement of phosphatidylethanolamine from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP.
phospholipid transporter activity	Enables the directed movement of phospholipids into, out of or within a cell, or between cells. Phospholipids are a class of lipids containing phosphoric acid as a mono- or diester.
retinoid binding	Binding to a retinoid, a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity.
retinol transmembrane transporter activity	Enables the transfer of retinol from one side of a membrane to the other. Retinol is vitamin A1, 2,6,6-trimethyl-1-(9'-hydroxy-3',7'-dimethylnona-1',3',5',7'-tetraenyl)cyclohex-1-ene, one of the three components that makes up vitamin A.

9 GO annotations of biological process

Name	Definition
lipid transport	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
phospholipid transfer to membrane	The transfer of a phospholipid from its site of synthesis to the plasma membrane.
phospholipid translocation	The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.
photoreceptor cell maintenance	Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light.
phototransduction, visible light	The sequence of reactions within a cell required to convert absorbed photons from visible light into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm.
retinal metabolic process	The chemical reactions and pathways involving retinal, a compound that plays an important role in the visual process in most vertebrates. In the retina, retinal combines with opsins to form visual pigments. Retinal is one of the forms of vitamin A.
retinoid metabolic process	The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8IUA7	ABCA9	ATP-binding cassette sub-family A member 9	Homo sapiens (Human)	PR
Q8N139	ABCA6	ATP-binding cassette sub-family A member 6	Homo sapiens (Human)	PR
Q8WWZ4	ABCA10	ATP-binding cassette sub-family A member 10	Homo sapiens (Human)	PR
Q8WWZ7	ABCA5	Cholesterol transporter ABCA5	Homo sapiens (Human)	PR
Q86UK0	ABCA12	Glucosylceramide transporter ABCA12	Homo sapiens (Human)	PR
Q8K449	Abca9	ATP-binding cassette sub-family A member 9	Mus musculus (Mouse)	PR
Q8K448	Abca5	Cholesterol transporter ABCA5	Mus musculus (Mouse)	PR
Q8K442	Abca8a	ABC-type organic anion transporter ABCA8A	Mus musculus (Mouse)	PR
P34358	ced-7	ABC transporter ced-7	Caenorhabditis elegans	PR
Q84K47	ABCA2	ABC transporter A family member 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FKF2	ABCA11	ABC transporter A family member 11	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLT5	ABCA9	ABC transporter A family member 9	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGFVRQIQLL	LWKNWTLRKR	QKIRFVVELV	WPLSLFLVLI	WLRNANPLYS	HHECHFPNKA
70	80	90	100	110	120
MPSAGMLPWL	QGIFCNVNNP	CFQSPTPGES	PGIVSNYNNS	ILARVYRDFQ	ELLMNAPESQ
130	140	150	160	170	180
HLGRIWTELH	ILSQFMDTLR	THPERIAGRG	IRIRDILKDE	ETLTLFLIKN	IGLSDSVVYL
190	200	210	220	230	240
LINSQVRPEQ	FAHGVPDLAL	KDIACSEALL	ERFIIFSQRR	GAKTVRYALC	SLSQGTLQWI
250	260	270	280	290	300
EDTLYANVDF	FKLFRVLPTL	LDSRSQGINL	RSWGGILSDM	SPRIQEFIHR	PSMQDLLWVT
310	320	330	340	350	360
RPLMQNGGPE	TFTKLMGILS	DLLCGYPEGG	GSRVLSFNWY	EDNNYKAFLG	IDSTRKDPIY
370	380	390	400	410	420
SYDRRTTSFC	NALIQSLESN	PLTKIAWRAA	KPLLMGKILY	TPDSPAARRI	LKNANSTFEE
430	440	450	460	470	480
LEHVRKLVKA	WEEVGPQIWY	FFDNSTQMNM	IRDTLGNPTV	KDFLNRQLGE	EGITAEAILN
490	500	510	520	530	540
FLYKGPRESQ	ADDMANFDWR	DIFNITDRTL	RLVNQYLECL	VLDKFESYND	ETQLTQRALS
550	560	570	580	590	600
LLEENMFWAG	VVFPDMYPWT	SSLPPHVKYK	IRMDIDVVEK	TNKIKDRYWD	SGPRADPVED
610	620	630	640	650	660
FRYIWGGFAY	LQDMVEQGIT	RSQVQAEAPV	GIYLQQMPYP	CFVDDSFMII	LNRCFPIFMV
670	680	690	700	710	720
LAWIYSVSMT	VKSIVLEKEL	RLKETLKNQG	VSNAVIWCTW	FLDSFSIMSM	SIFLLTIFIM
730	740	750	760	770	780
HGRILHYSDP	FILFLFLLAF	STATIMLCFL	LSTFFSKASL	AAACSGVIYF	TLYLPHILCF
790	800	810	820	830	840
AWQDRMTAEL	KKAVSLLSPV	AFGFGTEYLV	RFEEQGLGLQ	WSNIGNSPTE	GDEFSFLLSM
850	860	870	880	890	900
QMMLLDAAVY	GLLAWYLDQV	FPGDYGTPLP	WYFLLQESYW	LGGEGCSTRE	ERALEKTEPL
910	920	930	940	950	960
TEETEDPEHP	EGIHDSFFER	EHPGWVPGVC	VKNLVKIFEP	CGRPAVDRLN	ITFYENQITA
970	980	990	1000	1010	1020
FLGHNGAGKT	TTLSILTGLL	PPTSGTVLVG	GRDIETSLDA	VRQSLGMCPQ	HNILFHHLTV
1030	1040	1050	1060	1070	1080
AEHMLFYAQL	KGKSQEEAQL	EMEAMLEDTG	LHHKRNEEAQ	DLSGGMQRKL	SVAIAFVGDA
1090	1100	1110	1120	1130	1140
KVVILDEPTS	GVDPYSRRSI	WDLLLKYRSG	RTIIMSTHHM	DEADLLGDRI	AIIAQGRLYC
1150	1160	1170	1180	1190	1200
SGTPLFLKNC	FGTGLYLTLV	RKMKNIQSQR	KGSEGTCSCS	SKGFSTTCPA	HVDDLTPEQV
1210	1220	1230	1240	1250	1260
LDGDVNELMD	VVLHHVPEAK	LVECIGQELI	FLLPNKNFKH	RAYASLFREL	EETLADLGLS
1270	1280	1290	1300	1310	1320
SFGISDTPLE	EIFLKVTEDS	DSGPLFAGGA	QQKRENVNPR	HPCLGPREKA	GQTPQDSNVC
1330	1340	1350	1360	1370	1380
SPGAPAAHPE	GQPPPEPECP	GPQLNTGTQL	VLQHVQALLV	KRFQHTIRSH	KDFLAQIVLP
1390	1400	1410	1420	1430	1440
ATFVFLALML	SIVIPPFGEY	PALTLHPWIY	GQQYTFFSMD	EPGSEQFTVL	ADVLLNKPGF
1450	1460	1470	1480	1490	1500
GNRCLKEGWL	PEYPCGNSTP	WKTPSVSPNI	TQLFQKQKWT	QVNPSPSCRC	STREKLTMLP
1510	1520	1530	1540	1550	1560
ECPEGAGGLP	PPQRTQRSTE	ILQDLTDRNI	SDFLVKTYPA	LIRSSLKSKF	WVNEQRYGGI
1570	1580	1590	1600	1610	1620
SIGGKLPVVP	ITGEALVGFL	SDLGRIMNVS	GGPITREASK	EIPDFLKHLE	TEDNIKVWFN
1630	1640	1650	1660	1670	1680
NKGWHALVSF	LNVAHNAILR	ASLPKDRSPE	EYGITVISQP	LNLTKEQLSE	ITVLTTSVDA
1690	1700	1710	1720	1730	1740
VVAICVIFSM	SFVPASFVLY	LIQERVNKSK	HLQFISGVSP	TTYWVTNFLW	DIMNYSVSAG
1750	1760	1770	1780	1790	1800
LVVGIFIGFQ	KKAYTSPENL	PALVALLLLY	GWAVIPMMYP	ASFLFDVPST	AYVALSCANL
1810	1820	1830	1840	1850	1860
FIGINSSAIT	FILELFENNR	TLLRFNAVLR	KLLIVFPHFC	LGRGLIDLAL	SQAVTDVYAR
1870	1880	1890	1900	1910	1920
FGEEHSANPF	HWDLIGKNLF	AMVVEGVVYF	LLTLLVQRHF	FLSQWIAEPT	KEPIVDEDDD
1930	1940	1950	1960	1970	1980
VAEERQRIIT	GGNKTDILRL	HELTKIYPGT	SSPAVDRLCV	GVRPGECFGL	LGVNGAGKTT
1990	2000	2010	2020	2030	2040
TFKMLTGDTT	VTSGDATVAG	KSILTNISEV	HQNMGYCPQF	DAIDELLTGR	EHLYLYARLR
2050	2060	2070	2080	2090	2100
GVPAEEIEKV	ANWSIKSLGL	TVYADCLAGT	YSGGNKRKLS	TAIALIGCPP	LVLLDEPTTG
2110	2120	2130	2140	2150	2160
MDPQARRMLW	NVIVSIIREG	RAVVLTSHSM	EECEALCTRL	AIMVKGAFRC	MGTIQHLKSK
2170	2180	2190	2200	2210	2220
FGDGYIVTMK	IKSPKDDLLP	DLNPVEQFFQ	GNFPGSVQRE	RHYNMLQFQV	SSSSLARIFQ
2230	2240	2250	2260	2270
LLLSHKDSLL	IEEYSVTQTT	LDQVFVNFAK	QQTESHDLPL	HPRAAGASRQ	AQD