AiPD: Autoinhibited Protein Database

Q96KN7

Gene name	RPGRIP1
Protein name	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Names	RPGR-interacting protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57096
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

462-543 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

462-543 (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

2 structures for Q96KN7

Entry ID	Method	Resolution	Chain	Position	Source
4QAM	X-ray	183 A	B	1091-1286	PDB
AF-Q96KN7-F1	Predicted				AlphaFoldDB

1199 variants for Q96KN7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001303141 rs1462796890	4	L>M	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
CA7088532 RCV001079403 RCV000285535 rs201384449 RCV000345131 RCV000416234	17	I>T	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA257489618 RCV001325647 rs1032222606	21	P>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000598475 RCV001800820 RCV001800819 CA7088535 rs199590641 RCV001087237	25	P>L	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001110244 RCV001110245 CA7088537 rs187598648 RCV001301099	26	A>V	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs569126479 RCV001346407 CA388857073	27	S>L	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP
RCV001301904 rs763401090	29	G>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs200510462 RCV001698989 RCV001110994 RCV000763911 RCV000175919 RCV001110995 CA241768	32	M>K	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001371429 RCV001110996 CA7088570 RCV002556169 RCV001110997 rs376435824	39	S>N	Cone-rod dystrophy 13 Inborn genetic diseases Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001058602 CA7088574 rs762187880	43	R>Q	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM1607475 RCV001110998 RCV001110999 CA7088571 rs751975588 RCV001856476 RCV003163259	43	R>W	Cone-rod dystrophy 13 upper_aerodigestive_tract liver stomach Inborn genetic diseases Leber congenital amaurosis 6 [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA201680 RCV000175918 RCV001261169 COSM263433 RCV000724658 rs192003551 RCV001852161	52	R>*	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 6 (lca6) large_intestine Variant assessed as Somatic; 4.641e-05 impact. Leber congenital amaurosis 6 [ClinVar, Ensembl, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000153849 CA234803 RCV001208275 RCV001800463 rs376250340 RCV001800464	54	R>H	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7088585 rs530008238 RCV001051418 COSM1368919	55	E>K	Cone-rod dystrophy 13 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1413728875 RCV001042271	58	M>T	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV001332324 rs1880692860	64	S>F	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV000787885 CA117158 RCV000005271 rs137853124	65	W>*	Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis Leber congenital amaurosis 6 [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1880693286 RCV001313597	68	Q>R	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs62646879 CA227913 RCV001112991 RCV001081118 RCV000327868 RCV000086247 RCV001112992	86	R>W	Cone-rod dystrophy 13 Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1057519200 RCV001800664 RCV001800663 RCV001199770 RCV000415874 CA16043847 RCV001359271	90	V>I	Cone-rod dystrophy 13 Cone dystrophy Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA227918 RCV000243444 rs1040904 RCV000346133 RCV000086250 RCV001522397 VAR_057772 RCV000401587	96	P>Q	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7088631 RCV002520891 RCV000370485 CA257494505 rs377018856 RCV000311166	104	G>R	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1424476051 RCV001318069	107	A>missing	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs765387527 RCV001239643 CA7088633	110	R>W	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1566671532 CA388858830 RCV001297032	112	R>H	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001800389 rs375226924 RCV001800388 RCV000082003 CA223568 RCV001345967	126	G>R	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001114355 CA257494544 RCV001114356 RCV001067802 rs547876047	129	H>L	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001309896 rs766604917 CA7088653	143	V>I	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7088655 RCV001053134 rs755600406	146	G>E	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1881013380 RCV001231591	153	A>G	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs199840691 RCV001318777 CA7088678	165	P>A	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001261170 rs61751265 RCV000086256	171	Y>missing	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001237909 rs1881077003	174	P>missing	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV001261171 rs780733881	174	P>R	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
rs1881077815 RCV001316764	177	F>L	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs186266220 RCV000322396 RCV000358467 RCV000276671 CA7088688 RCV000959229	181	A>G	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000323616 rs6571751 RCV001511544 VAR_017830 CA227931 RCV000086258 RCV000254473 RCV000268509	192	K>E	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001208316 rs763667727	207	S>I	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
CA7088716 rs763667727 RCV001343647	207	S>N	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001069072 rs1881122797	212	M>I	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
CA7088719 RCV000288020 RCV000382936 rs767213505	214	K>Q	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7088724 RCV000983971 COSM3723424 RCV000384076 RCV000329549 rs371762530	220	M>V	Cone-rod dystrophy 13 upper_aerodigestive_tract Leber congenital amaurosis 6 [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001335049 rs752263228 RCV000761349 RCV001074662	225	H>missing	Cone-rod dystrophy 13 Retinal dystrophy Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001037555 CA7088742 rs780673799 RCV001800941 RCV001800942 RCV001759941	263	A>S	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002532181 rs554396590 CA7088743 RCV000678628	267	R>*	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000989169 CA7088744 rs758239674 RCV001869358	267	R>Q	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 1 [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001086986 RCV001800533 RCV001002218 RCV000207372 rs372615343 CA071653 RCV001800534 RCV000384797	270	I>V	Cone-rod dystrophy 13 Anophthalmia-microphthalmia syndrome Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000144469 rs587783018 CA170861 RCV001380810	278	R>*	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1881380174 RCV001041882	292	M>V	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV001005021 rs1594180177	299	E>missing	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
CA7088769 RCV002545105 RCV001322189 rs550626567	299	E>K	Cone-rod dystrophy 13 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200168103 RCV001111082 CA7088783 RCV001111081 RCV001856477	303	A>T	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs755322533 RCV000695148 RCV001113070 RCV001113071 CA7088832	313	G>E	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001231575 rs778477037 CA7088836	319	H>Q	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001312863 CA388862195 rs1214509629	322	L>P	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs199982906 CA7088839 RCV001305367 RCV000408090 RCV002519178 RCV001800649 RCV001800650	323	L>P	Cone-rod dystrophy 13 Inborn genetic diseases Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7088843 rs776485302 RCV001229039	329	L>V	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7088848 RCV001212747 rs766519169	338	K>E	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001204553 rs1881555303	340	A>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV002522297 CA7088853 RCV000295356 rs756365691 RCV000396734 RCV003137915 RCV001052349	353	L>F	Cone-rod dystrophy 13 Inborn genetic diseases Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs774569329 RCV001227689 CA7088869	368	E>G	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000171128 RCV001800395 rs61751266 RCV000786015 RCV000086238 RCV001047199	370	E>missing	Cone-rod dystrophy 13 Leber congenital amaurosis Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001261191 RCV001238890 RCV000504638 rs776880045	372	K>missing	Cone-rod dystrophy 13 Leber congenital amaurosis Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
CA612371636 rs1391335025 RCV001261178	378	Y>*	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs373962100 RCV001234243 CA7088902	391	S>R	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs779216995 RCV001114455 COSM1368920 RCV002556240 CA7088907 RCV001114454	403	A>V	Cone-rod dystrophy 13 large_intestine Leber congenital amaurosis 6 [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs775425686 RCV001236080 CA7088909	407	Q>*	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1052124836 RCV001305681 CA257535348	429	L>R	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_067184 RCV000954352 rs190985984 CA7088925	432	S>F	Cone-rod dystrophy 13 found in a patient with LCA6 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000225543 RCV001198056 rs878853392 CA10581688	435	K>*	Retinal dystrophy Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1882224897 RCV001305052	440	D>E	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV001206122 rs1882228306	451	K>T	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
CA10581689 rs878853391 RCV000225431	482	L>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs368781265 CA7088968 RCV001389834 RCV001261179	483	Q>*	Cone-rod dystrophy 13 Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1882245032 RCV001326329	486	T>I	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
CA388865094 rs1161752701 RCV001302319	492	E>G	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001217642 CA7088998 rs763392584	513	A>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
COSM1477436 CA7089000 RCV001244385 rs763392584	513	A>T	Cone-rod dystrophy 13 Variant assessed as Somatic; 0.0 impact. breast [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP
RCV001855187 COSM1264541 rs373592510 RCV000355578 CA10605735	530	R>C	Cone-rod dystrophy 13 oesophagus [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD
RCV001380451 RCV002267761 RCV001267701 RCV001844254 rs1420750126 RCV001784543	539	E>missing	Cone-rod dystrophy 13 Leber congenital amaurosis Cone-rod dystrophy Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000272533 rs10151259 RCV000005275 RCV001511545 RCV000086240 CA201070 RCV000989171 VAR_017831 RCV000174586	547	A>S	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 1 Leber congenital amaurosis 6 CORD13 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001324862 rs1223339694 CA388865691	548	D>N	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs373415938 CA7089044 RCV001208491	551	N>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776963292 RCV001261181 COSM1578758 CA257535773 RCV002537617	563	R>*	Cone-rod dystrophy 13 Leber congenital amaurosis 6 (lca6) Variant assessed as Somatic; impact. meninges Leber congenital amaurosis 6 [ClinVar, Ensembl, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1448903303 RCV001060463 CA388865999	576	E>K	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002282101 rs147586703 VAR_065724 CA7089060 RCV001111169 RCV000325954 RCV001800646 RCV000763912	585	P>S	Cone-rod dystrophy 13 Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001111170 VAR_065725 rs34067949 RCV001111171 CA7089091 RCV001082360 RCV000761865 RCV000434906	589	Q>H	Cone-rod dystrophy 13 Leber congenital amaurosis 6 does not affect the interaction with NPHP4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001074230 rs1882854195	592	D>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000578972 RCV001238568 RCV000779132 CA7089094 RCV001800794 rs775935766	598	R>*	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) RPGRIP1L-Related Disorders Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs74034910 RCV001083621 RCV000989172 RCV001111172 RCV001111173 VAR_065726 CA7089095 COSM263438 RCV000384176 RCV000224456	598	R>Q	Cone-rod dystrophy 13 Leber congenital amaurosis 1 Leber congenital amaurosis 6 (lca6) large_intestine Leber congenital amaurosis 6 found in patients with primary open angle glaucoma and juvenile open angle glaucoma; affects the interaction with NPHP4 [ClinVar, Ensembl, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001228157 rs368192802 CA7089097	599	P>L	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7089100 rs3748360 VAR_017832 RCV001326077	601	S>L	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_067185 rs3748360 RCV001202147 CA7089099	601	S>W	Cone-rod dystrophy 13 found in a patient with LCA6 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001296100 rs781272475	601	S>missing	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
CA7089108 RCV001325996 rs779121574	619	S>F	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs1882869988 RCV001314788	626	N>Y	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
CA170857 RCV000144462 rs535922252	631	H>L	Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 6 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_067186	631	H>P	LCA6 [UniProt]	Yes	UniProt
CA7089115 RCV001800938 RCV001800939 rs535922252 RCV001074229 RCV001034879	631	H>R	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Retinal dystrophy Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_065728 RCV000276189 RCV001800644 CA7089119 RCV001800645 rs200325360 RCV001069833	635	A>G	Cone-rod dystrophy 13 Leber congenital amaurosis 6 a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1454437229 RCV001075702 CA388867251	637	L>V	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001364268 rs753575515 RCV000334887 RCV000279829 CA7089122 RCV002520892	641	A>T	Cone-rod dystrophy 13 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Leber congenital amaurosis 6 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001345122 CA7089127 rs780101671	648	T>N	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001319192 RCV001800729 RCV000521905 RCV001800728 CA388867426 rs1278572461	659	Y>C	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001320041 rs1278572461	659	Y>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs483352751 RCV002514537 CA229175 RCV000087236	660	D>Y	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7089135 rs767180524 RCV001326438	664	H>R	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs878853390 RCV000225615	670	V>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA388867574 RCV000989173 RCV001858701 rs1348186141	671	G>E	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 1 [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000701424 CA388867595 rs1566341956	673	Q>*	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001113174 CA7089145 rs543867152 RCV001113175 RCV001245884	688	S>L	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001800510 CA240362 rs200401966 RCV000174787 RCV001800511 RCV001037544	692	H>R	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1882904268 RCV001261182	696	E>*	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
rs1882945917 RCV001073673	744	E>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001261183 rs61751268 RCV000086244 VAR_017833 CA227910	746	G>E	Leber congenital amaurosis 6 (lca6) Variant assessed as Somatic; impact. Leber congenital amaurosis 6 LCA6 [Ensembl, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1882946937 RCV001261184	747	V>missing	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001003209 rs1594214013 CA388868454	750	Y>C	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7089207 RCV001352196 RCV001800987 rs758652031 VAR_065730 RCV001376539	764	A>V	Cone-rod dystrophy 13 Leber congenital amaurosis 6 does not affect the interaction with NPHP4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1413996964 RCV001309401 CA388868551	765	C>Y	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs183607403 RCV001230192 CA7089211	766	N>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001309797 TCGA novel rs1594214205 CA388868566	767	K>T	Cone-rod dystrophy 13 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA Ensembl dbSNP
CA7089212 RCV001800848 RCV000686083 rs75459701 RCV000779133 RCV001800849 RCV000760501	768	R>*	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) RPGRIP1L-Related Disorders Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7089213 RCV001232446 rs770870865	768	R>Q	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs577932201 RCV002516255 RCV000225680 CA7089216	772	Q>*	Cone-rod dystrophy 13 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1483742101 RCV001229727	777	T>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs1195674447 RCV001245768 CA388868640	779	V>A	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1050643789 CA257536088 RCV001337515	779	V>L	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001321413 CA7089222 rs765878033	783	R>W	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA170863 RCV000144470 rs587783019	786	Q>*	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1883030065 RCV001337914	798	Q>E	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV000504829 RCV002230986 rs565837539 RCV001215982 CA7089253	800	E>K	Cone-rod dystrophy 13 Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1883031542 RCV001074723	802	W>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000596058 CA7089255 VAR_065731 RCV000989174 RCV001110509 rs142796310 RCV000878023 RCV001110508	806	T>I	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 1 Leber congenital amaurosis 6 a patient with primary open angle glaucoma who also carries variant K-352 in MYOC; affects the interaction with NPHP4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351612 RCV000207424 rs869025257	808	C>W	Anophthalmia-microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001074193 rs1883036105	811	L>F	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1883036406 RCV001199769	811	L>H	Cone dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001110511 rs190490019 RCV001110510 RCV000878013 CA7089260 RCV001089439	812	R>Q	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1739469293 RCV001073416 RCV001862500	814	R>missing	Cone-rod dystrophy 13 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs759940113 RCV000762921 RCV001724145 RCV000754600 COSM270068 RCV000710047 RCV001800862 CA7089262	814	R>*	Cone-rod dystrophy 13 Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 6 (lca6) large_intestine Leber congenital amaurosis Leber congenital amaurosis 6 [ClinVar, NCI-TCGA, Ensembl, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs372647080 CA257536131 RCV001110513 RCV001110512 VAR_065733 RCV001371960	814	R>L	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD
RCV001338666 rs764884763 CA7089266	817	G>R	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000989175 rs751521888 CA257536134 RCV001869359	823	Y>C	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 1 [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001075703 RCV001800949 rs745741473 RCV001062863 RCV001800948	824	A>missing	Cone-rod dystrophy 13 Retinal dystrophy Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001245479 rs985883884 CA257536135	827	R>C	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs28937883 RCV001111268 RCV001110514 CA7089273 RCV002556163	827	R>H	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 6 [ClinVar, Ensembl, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs28937883 RCV000086245 VAR_017834 RCV000005274 CA227911	827	R>L	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) CORD13 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001867943 CA7089278 rs749361825 RCV000592864	835	D>G	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs771018578 RCV001038833 CA7089281	836	T>N	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001348556 RCV001111270 RCV001111269 CA7089282 rs373515194 RCV002282458 VAR_065734	837	A>G	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis 6 a patient with primary open angle glaucoma and a patient with juvenile open angle glaucoma; affects the interaction with NPHP4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_065735 rs772480252 RCV002222660 RCV001038820 CA7089283	838	I>V	Cone-rod dystrophy 13 a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001350669 CA7089290 rs762420632	843	N>D	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001800828 CA388869332 rs1429786931 RCV001389835 RCV001261185 RCV000597545 RCV001074918	852	R>*	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 6 (lca6) Retinal dystrophy Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA223562 RCV001513784 rs181758389 RCV001111273 RCV001111274 VAR_065737 RCV001002311 RCV000082000	852	R>Q	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001298225 rs755901634 CA7089295	853	F>V	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1555302200 RCV000626951 RCV001261186	857	V>missing	Retinal dystrophy Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
rs1883066106 RCV001315496	865	L>P	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs375012807 RCV001231329 CA7089298	867	R>Q	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs186803989 CA234805 RCV000153850 RCV000878567	867	R>W	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000225501 rs878853389 RCV002292493	870	L>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs747355604 RCV001232092 CA7089301	872	I>V	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000274593 RCV002282118 rs573418252 RCV000364560 CA7089304	873	H>R	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1019416252 CA257536141 RCV001299258	878	E>K	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001091752 rs1030149008 RCV001800880 RCV001800879 RCV000779134 CA257536142	888	R>*	Cone-rod dystrophy 13 RPGRIP1L-Related Disorders Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001316219 RCV002556209 RCV001113275 RCV001113276 CA7089315 rs559905596	888	R>Q	Cone-rod dystrophy 13 Inborn genetic diseases Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001211496 RCV000593385 rs184926375 CA7089316 RCV001800823 RCV001800824	889	A>T	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7089317 rs780587095 RCV000298896 RCV002518810 COSM954387	890	R>*	Cone-rod dystrophy 13 Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001217005 rs374913550 CA7089318	890	R>Q	Cone-rod dystrophy 13 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000370259 COSM697549 RCV000310954 rs781608496 CA10639924	900	E>D	lung Cone-rod dystrophy 13 Leber congenital amaurosis 6 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000678627 rs776289402 RCV001075715 RCV001201958 RCV000995114 RCV001800846	907	N>*	Cone-rod dystrophy 13 Retinal dystrophy Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000989176 RCV001858702 rs61751270 RCV002225121	920	Q>missing	Cone-rod dystrophy 13 Leber congenital amaurosis 1 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001800387 RCV000710048 RCV001857395 RCV001800386 rs398124354 CA223564 RCV000082001	925	W>*	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001212958 rs1883254940	929	Y>missing	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV001074916 CA7089349 rs773491339 RCV001862580	932	P>A	Cone-rod dystrophy 13 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001312597 CA388870787 rs1437116017	955	S>F	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs199589566 CA7089358 RCV001294402	957	E>K	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs786205623 RCV000171475 RCV001261172	959	K>missing	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
CA7089360 RCV001113279 VAR_057773 RCV000641903 RCV001114650 rs35810926	960	A>P	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35810926 CA388870817 RCV001114651 RCV001114652	960	A>S	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001261187 RCV000505086 rs1555302710	964	S>missing	Retinitis pigmentosa Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
rs1233085262 CA388870913 RCV001349020	972	E>D	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000275925 RCV000317052 rs886050399 CA10645003	975	I>T	Cone-rod dystrophy 13 Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 6 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV001057785 rs1883345867	977	A>V	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV001237099 CA7089379 rs754582695	978	G>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1371805993 RCV001003210 CA388870957 RCV001862727	979	Q>*	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Retinitis pigmentosa Variant assessed as Somatic; impact. [ClinVar, Ensembl, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
rs780667159 CA7089380 RCV001382205 RCV000989177 RCV001261192 RCV000504726 RCV001800715 COSM1629238	981	R>*	Cone-rod dystrophy 13 Leber congenital amaurosis 1 liver Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis Leber congenital amaurosis 6 [ClinVar, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs1349740244 CA388871090 RCV001325890	989	G>V	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001003211 rs1594224781 RCV001385916	992	R>missing	Cone-rod dystrophy 13 Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1883354997 RCV001241227	998	Q>R	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV001344137 CA7089392 rs377551155	1008	G>R	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA257536364 RCV001340805 rs969637624	1010	R>I	Cone-rod dystrophy 13 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000371567 RCV000262975 rs886050400 CA10643901	1019	M>L	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7089404 rs367899074 RCV000318829 RCV000378099 RCV001298333	1022	L>F	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7089408 RCV000343428 rs3748361 RCV000283678 VAR_017835 RCV001518177 RCV001610714 RCV000248391	1033	E>Q	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000504916 rs1555303320 CA388872113	1040	W>*	Leber congenital amaurosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001337413 rs1883600054	1046	N>I	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs1883601117 RCV001345702	1047	S>I	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV001345297 rs1883602777	1051	D>H	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
RCV001211141 RCV001109017 CA7089445 RCV001109016 rs372226099	1074	P>R	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001241029 rs550094754 CA7089446	1075	L>V	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA388872361 RCV001302823 rs1396404319	1076	H>R	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs751421999 RCV001324886 CA388873052	1083	S>F	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001306261 CA7089473 rs576011830	1084	S>F	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs769264626 CA7089485 RCV001208315	1106	M>T	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA117160 RCV000835646 VAR_017836 rs17103671 RCV001083379 RCV000005276 RCV000176224 COSM3736095	1114	D>G	Cone-rod dystrophy 13 Leber congenital amaurosis 6 (lca6) skin Leber congenital amaurosis 6 LCA6; no effect on interaction with RPGR [ClinVar, Ensembl, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7089506 RCV002265931 rs137853911 RCV001038290	1120	I>L	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 6 (lca6) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000086972 RCV001059148 RCV001111368 CA228928 RCV002281926 rs137853911 RCV001111369	1120	I>V	Cone-rod dystrophy 13 Cone-rod dystrophy 13 (cord13) Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388856802 RCV001041910 rs1363679912	1122	I>V	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001352198 RCV001800513 rs760334377 RCV000176225 RCV001800512 CA242092	1126	A>V	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001248202 rs774522001	1134	M>I	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs1566366002 RCV000779135	1136	D>missing	RPGRIP1L-Related Disorders [ClinVar]	Yes	ClinVar dbSNP
RCV001261189 rs1885186332	1143	Y>missing	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
CA7089512 RCV001325481 rs765299022	1143	Y>C	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001205864 RCV000394696 RCV000309679 CA10634712 rs886050401	1148	F>L	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs527354795 RCV001320475 CA257547050 CA388857144	1150	D>E	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP
CA7089517 rs144704092 RCV001213456 RCV003163623	1150	D>N	Cone-rod dystrophy 13 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001209967 rs1388726376 CA388857150	1152	P>S	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001862736 CA7089522 RCV001252813 rs188312873	1154	S>L	Cone-rod dystrophy 13 Microcephaly [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7089521 RCV001042308 rs188312873	1154	S>W	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000625855 rs776698746	1156	T>*	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001238762 rs1885194108	1163	R>missing	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs1566366242 RCV000779136	1167	A>missing	RPGRIP1L-Related Disorders [ClinVar]	Yes	ClinVar dbSNP
CA7089528 RCV002521913 RCV001800647 RCV001800648 rs201191634 RCV000324578 RCV001058094	1169	E>Q	Cone-rod dystrophy 13 Inborn genetic diseases Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003169711 CA7089529 RCV001348447 rs202036914	1171	I>T	Cone-rod dystrophy 13 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA388857474 RCV001869420 RCV001000640 rs766353935	1185	E>K	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs766353935 CA7089549 RCV001303220	1185	E>Q	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001262111 rs587783012 RCV000144463	1189	R>missing	Leber congenital amaurosis Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001800668 RCV001261193 rs752175052 CA7089550 RCV000428349 RCV001387165	1189	R>*	Cone-rod dystrophy 13 Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7089554 RCV001220517 rs756503753 RCV001113376 RCV001113377	1190	R>S	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7089555 rs188660364 RCV001488401 RCV001113379 RCV001113378	1191	R>W	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7089563 rs769554584 RCV001340604	1196	M>K	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA388857578 rs773540240 RCV001320514	1201	D>G	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002225287 RCV000086252 rs61751271	1204	Q>missing	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001261177 rs1885757549	1211	V>missing	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
VAR_076823	1211	V>E	LCA6 [UniProt]	Yes	UniProt
rs1295657393 CA388858001 RCV002535101 RCV000728998	1215	P>L	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10606895 RCV000327052 rs886044548 RCV002519346	1217	D>N	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001003212 rs1594280914	1221	K>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1885763952 RCV001261190	1227	G>R	Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000315506 CA7089589 RCV000559934 RCV000756603 rs34725281 RCV001683259 RCV000369993 VAR_057774	1240	G>E	Cone-rod dystrophy 13 Leber congenital amaurosis 6 (lca6) Leber congenital amaurosis 6 [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001862890 RCV001114755 RCV001114754 CA7089613 rs370728861	1254	E>K	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1405508889 RCV000641900 CA388858285	1256	L>V	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001207245 rs752222755	1260	I>K	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinVar dbSNP
rs752222755 RCV001856508 RCV001114756 RCV001114757 CA7089617	1260	I>T	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001114758 RCV001114759 CA388858323 rs1216759071	1263	L>M	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1468976582 RCV001005015 RCV001860574	1265	V>missing	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001211874 RCV002520893 RCV000265246 rs778860397 RCV000357409 CA10645005	1272	V>I	Cone-rod dystrophy 13 Inborn genetic diseases Leber congenital amaurosis 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768759217 RCV001315055 CA7089626	1278	K>E	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV000086255 RCV002265604 RCV001305369 RCV002225082 rs281865293	1279	E>missing	Cone-rod dystrophy 13 Leber congenital amaurosis 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001954982 rs1029178575 CA257553680	1287	S>R	Cone-rod dystrophy 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1411362635 CA388856786	3	H>Q		No	ClinGen TOPMed
CA388856789 rs1462796890	4	L>V		No	ClinGen gnomAD
rs1231473915 CA388856826	7	P>A		No	ClinGen TOPMed gnomAD
rs1231473915 CA388856828	7	P>S		No	ClinGen TOPMed gnomAD
CA388856824 rs1231473915	7	P>T		No	ClinGen TOPMed gnomAD
CA7088529 rs756665749	10	G>E		No	ClinGen ExAC gnomAD
rs557304034 CA388856870	11	D>N		No	ClinGen TOPMed gnomAD
rs557304034 CA257489596	11	D>Y		No	ClinGen TOPMed gnomAD
rs1240709611 CA388856898	12	L>F		No	ClinGen gnomAD
rs201905955 CA257489607	13	P>S		No	ClinGen 1000Genomes
CA7088531 rs370068336	17	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs775399583 CA7088533	18	D>G		No	ClinGen ExAC gnomAD
rs1399409128 CA388856965	18	D>N		No	ClinGen gnomAD
CA7088534 rs182920176	19	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs956599165 CA257489620	21	P>L		No	ClinGen TOPMed
CA388857026 rs1357697375	23	V>L		No	ClinGen TOPMed
rs776628777 CA7088536	26	A>T		No	ClinGen ExAC
rs569126479 TCGA novel CA7088538	27	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC TOPMed NCI-TCGA
CA257489633 rs774530575	28	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7088539 rs774530575	28	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA388857089 rs763401090	29	G>C		No	ClinGen ExAC TOPMed gnomAD
rs763401090 CA7088540	29	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1046296429 CA257492028	31	N>D		No	ClinGen Ensembl
VAR_065720	32	M>L		No	UniProt
CA7088564 rs753553043	34	T>I		No	ClinGen ExAC gnomAD
rs761540112 CA7088565	35	Q>R		No	ClinGen ExAC gnomAD
CA7088566 rs189509077	36	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257492035 rs189509077	36	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749943816 CA7088567	37	P>H		No	ClinGen ExAC TOPMed gnomAD
CA388857679 COSM552582 rs749943816	37	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751975588 CA388857718	43	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7088573 rs762187880 RCV000593876	43	R>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7088576 rs371044065	46	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs774956493 CA7088578	49	S>G		No	ClinGen ExAC gnomAD
rs1328095086 CA388857775	51	F>V		No	ClinGen gnomAD
rs374171080 CA7088581	52	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs374171080 CA7088580 COSM954369	52	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7088582 rs764967308	53	L>F		No	ClinGen ExAC gnomAD
rs1476752302 COSM954370 CA388857790	54	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs376250340 CA7088583	54	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA388857796 rs1566668538	55	E>D		No	ClinGen Ensembl
rs754849037 CA7088586	55	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7088587 rs781081217	57	H>R		No	ClinGen ExAC gnomAD
rs1413728875 CA388857816	58	M>K		No	ClinGen TOPMed
rs1466878228 CA388857834	60	V>G		No	ClinGen gnomAD
rs1192734148 CA388857839	61	K>R		No	ClinGen gnomAD
CA257492060 rs976713441	62	E>K		No	ClinGen Ensembl
rs752476122 CA7088588	62	E>V		No	ClinGen ExAC gnomAD
CA388857849 rs755845899	63	L>I		No	ClinGen ExAC gnomAD
rs755845899 CA7088589	63	L>V		No	ClinGen ExAC gnomAD
rs62646878 RCV000086243 CA227909	65	W>*		No	ClinGen ClinVar TOPMed dbSNP
TCGA novel	65	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	68	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388857896 rs1214003738	69	D>V		No	ClinGen TOPMed
CA388858419 rs1475166710	75	R>K		No	ClinGen TOPMed
CA7088615 rs754112261	77	T>I		No	ClinGen ExAC gnomAD
rs1594173026 CA388858442	77	T>P		No	ClinGen Ensembl
CA7088616 rs757394399	78	L>S		No	ClinGen ExAC gnomAD
rs1032395476 CA388858488	80	R>L		No	ClinGen TOPMed gnomAD
rs1032395476 CA257494472	80	R>Q		No	ClinGen TOPMed gnomAD
CA7088617 rs371371555	82	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1594173050 CA388858513	82	T>P		No	ClinGen Ensembl
CA7088619 rs758442540	83	A>G		No	ClinGen ExAC gnomAD
CA388858559 rs1594173071	85	G>D		No	ClinGen Ensembl
rs1255481934 CA388858562	86	R>P		No	ClinGen gnomAD
rs777112076 CA7088622	89	R>G		No	ClinGen ExAC TOPMed gnomAD
rs530125171 CA7088623	89	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1311665698 CA388858595	92	E>G		No	ClinGen TOPMed gnomAD
rs1375387334 CA388858602	93	E>A		No	ClinGen gnomAD
TCGA novel	95	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7088625 rs1040904	96	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388858634 rs1337129272	98	S>L		No	ClinGen TOPMed gnomAD
rs1337129272 CA388858633	98	S>W		No	ClinGen TOPMed gnomAD
rs767015112 CA388858640	99	E>A		No	ClinGen ExAC gnomAD
TCGA novel	99	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767015112 CA7088627	99	E>G		No	ClinGen ExAC gnomAD
CA388858637 rs1436942223	99	E>Q		No	ClinGen TOPMed
rs372777128 CA7088628	101	A>T		No	ClinGen ESP ExAC gnomAD
CA388858689 rs760586281	102	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7088632 rs757561293	104	G>E		No	ClinGen ExAC gnomAD
CA388858754 rs1429001401	107	A>T		No	ClinGen gnomAD
rs1252806078 CA388858767	108	G>R		No	ClinGen gnomAD
CA257494511 rs946644212	109	W>R		No	ClinGen Ensembl
rs750589032 CA7088634	110	R>Q		No	ClinGen ExAC gnomAD
CA388858839 rs1429217156	113	L>V		No	ClinGen TOPMed
CA388858853 rs1192070874	114	S>P		No	ClinGen TOPMed
CA388858873 rs1462979257	115	M>I		No	ClinGen TOPMed gnomAD
CA7088637 rs752159774	115	M>R		No	ClinGen ExAC TOPMed gnomAD
rs780230712 CA7088636	115	M>V		No	ClinGen ExAC gnomAD
rs539334802 CA7088638	117	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs781732396 CA7088639	117	Q>R		No	ClinGen ExAC gnomAD
CA7088640 rs369530487	118	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs770129842 CA7088641	119	P>L		No	ClinGen ExAC gnomAD
rs1442770059 CA388858950	120	Q>R		No	ClinGen gnomAD
CA388858965 rs1349413376	121	M>L		No	ClinGen TOPMed gnomAD
CA7088643 rs745477543	121	M>R		No	ClinGen ExAC
rs771533434 CA7088644	122	H>R		No	ClinGen ExAC gnomAD
rs1234439954 CA388858996	123	R>G		No	ClinGen TOPMed gnomAD
CA257494532 rs867200920	125	Q>*		No	ClinGen Ensembl
CA388859046 rs1253136691	126	G>A		No	ClinGen TOPMed gnomAD
CA7088646 rs768572446	127	H>N		No	ClinGen ExAC
CA388859094 rs547876047	129	H>R		No	ClinGen TOPMed gnomAD
CA388859117 rs1470016879	130	C>*		No	ClinGen gnomAD
CA388859123 rs1217633462	131	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776488741 CA7088648	134	A>G		No	ClinGen ExAC gnomAD
rs1267163203 CA388859178	135	S>G		No	ClinGen TOPMed gnomAD
VAR_065721	135	S>R		No	UniProt
CA388859208 rs1401332285	137	R>H		No	ClinGen TOPMed
rs761513451 CA7088650	138	R>C		No	ClinGen ExAC gnomAD
rs761513451 CA7088649	138	R>S		No	ClinGen ExAC gnomAD
CA388859215 rs763210717	139	A>P		No	ClinGen ExAC TOPMed gnomAD
CA388859216 rs763210717	139	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7088652 rs763210717	139	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1169371081 CA388859219	139	A>V		No	ClinGen TOPMed gnomAD
CA388859233 rs1242497761	141	P>L		No	ClinGen gnomAD
rs1442705881 CA388859236	142	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1382706986 CA388859256	145	V>E		No	ClinGen TOPMed gnomAD
CA388859273 rs1324633537	148	R>*		No	ClinGen gnomAD
rs1324633537 CA388859272	148	R>G		No	ClinGen gnomAD
CA257494557 rs11628996	148	R>K		No	ClinGen Ensembl
CA7088657 rs372471202	152	T>A		No	ClinGen ESP ExAC gnomAD
rs778179468 CA7088659	154	G>A		No	ClinGen ExAC gnomAD
CA257494565 rs866277722	156	P>L		No	ClinGen TOPMed gnomAD
CA257494564 rs866277722	156	P>Q		No	ClinGen TOPMed gnomAD
CA388859327 rs1188669647	157	V>L		No	ClinGen TOPMed gnomAD
rs368528161 CA257494569	158	P>L		No	ClinGen ExAC TOPMed gnomAD
rs368528161 CA388859335	158	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs368528161 CA7088662	158	P>R		No	ClinGen ExAC TOPMed gnomAD
CA388859368 rs1462681063	163	R>K		No	ClinGen TOPMed gnomAD
CA388859369 rs1462681063	163	R>T		No	ClinGen TOPMed gnomAD
rs757555537 CA7088679	168	R>S		No	ClinGen ExAC gnomAD
rs575192944 CA7088680	170	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1316593326 CA388859980	171	Y>F		No	ClinGen TOPMed
CA388860008 rs1305296500	173	A>D		No	ClinGen gnomAD
rs1305296500 CA388860010	173	A>G		No	ClinGen gnomAD
rs1225739735 CA388860002	173	A>T		No	ClinGen gnomAD
CA7088683 rs780733881	174	P>L		No	ClinGen ExAC TOPMed gnomAD
CA388860043 rs1235485832	175	P>L		No	ClinGen gnomAD
CA257494821 rs1011857075	176	S>L		No	ClinGen Ensembl
CA7088685 rs772938351	177	F>S		No	ClinGen ExAC gnomAD
rs1555365397 CA7088686	178	K>M		No	ClinGen Ensembl
CA388860113 rs1299683930	179	E>D		No	ClinGen TOPMed
rs1236436283 CA388860098	179	E>K		No	ClinGen gnomAD
rs1480746906 CA388860126	180	H>R		No	ClinGen TOPMed gnomAD
CA7088689 COSM273611 rs186266220	181	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1594174669 CA388860158	182	T>K		No	ClinGen Ensembl
rs1438783509 CA388860165	183	N>D		No	ClinGen TOPMed gnomAD
rs900955113 CA257494828	183	N>K		No	ClinGen TOPMed
CA7088691 rs759808929	183	N>S		No	ClinGen ExAC gnomAD
CA388860189 rs1412730253	184	E>G		No	ClinGen gnomAD
rs1396765835 CA388860179	184	E>K		No	ClinGen gnomAD
TCGA novel	186	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388860247 rs1169939054	187	G>V		No	ClinGen TOPMed
rs1194266063 CA388860257	188	E>A		No	ClinGen gnomAD
CA388860279 rs1329481007	189	V>A		No	ClinGen gnomAD
CA388860271 rs200219549	189	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7088693 rs200219549	189	V>L		No	ClinGen ExAC TOPMed gnomAD
rs370751257 CA7088694	190	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs758926176 CA257494833	191	S>G		No	ClinGen TOPMed
rs758926176 CA388860296	191	S>R		No	ClinGen TOPMed
CA388860340 rs1306129454	193	P>S		No	ClinGen gnomAD
rs757653708 CA7088696	194	S>N		No	ClinGen ExAC TOPMed gnomAD
CA388860382 rs1219215628	195	E>G		No	ClinGen gnomAD
CA388860450 rs1316901387	197	V>F		No	ClinGen gnomAD
rs777149627 CA7088713	199	G>R		No	ClinGen ExAC gnomAD
TCGA novel	203	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388860491 rs1197922295	203	I>T		No	ClinGen TOPMed gnomAD
CA388860496 rs1242582687	204	I>V		No	ClinGen TOPMed gnomAD
rs1423078039 CA388860526	208	S>T		No	ClinGen gnomAD
rs1167281957 CA388860546	211	S>N		No	ClinGen gnomAD
rs1167281957 CA388860547	211	S>T		No	ClinGen gnomAD
CA7088718 rs759245543	212	M>V		No	ClinGen ExAC gnomAD
TCGA novel	213	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388860574 rs1417081474	215	P>A		No	ClinGen TOPMed
rs1347428806 CA388860581	216	I>T		No	ClinGen gnomAD
rs752225657 CA7088720	216	I>V		No	ClinGen ExAC gnomAD
rs777125547 CA7088722	219	C>G		No	ClinGen ExAC TOPMed gnomAD
rs777125547 CA7088723	219	C>R		No	ClinGen ExAC TOPMed gnomAD
CA388860606 rs1345218064	220	M>I		No	ClinGen TOPMed
CA388860624 rs1285531904	223	S>G		No	ClinGen gnomAD
TCGA novel	223	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376060001 CA257494954	224	A>D		No	ClinGen ESP TOPMed gnomAD
rs376060001 CA257494956	224	A>V		No	ClinGen ESP TOPMed gnomAD
RCV001091751 rs1881125294	226	I>missing		No	ClinVar dbSNP
CA7088729 rs780349929	227	M>I		No	ClinGen ExAC gnomAD
CA7088728 rs371994477	227	M>T		No	ClinGen ESP ExAC gnomAD
rs756504836 CA7088730	228	A>V		No	ClinGen ExAC TOPMed gnomAD
rs768832924 CA7088731	229	S>I		No	ClinGen ExAC gnomAD
rs1476095586 CA388860682	231	T>N		No	ClinGen TOPMed
CA388860689 rs1366893342	232	M>I		No	ClinGen gnomAD
rs1261268977 CA388860686	232	M>K		No	ClinGen TOPMed
rs1051866552 CA257494964	233	Q>E		No	ClinGen TOPMed
rs1472613406 CA388860694	233	Q>P		No	ClinGen gnomAD
rs776664766 CA7088732	234	V>M		No	ClinGen ExAC gnomAD
TCGA novel	235	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	236	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7088736 rs763380102	238	P>H		No	ClinGen ExAC gnomAD
rs766603726 CA7088737	243	K>T		No	ClinGen ExAC gnomAD
CA7088738 rs752442850	247	K>R		No	ClinGen ExAC gnomAD
rs760211909 CA7088739	248	D>H		No	ClinGen ExAC gnomAD
rs1486327132 CA388860799	248	D>V		No	ClinGen TOPMed
rs1262507960 CA388860817	250	N>S		No	ClinGen TOPMed
rs1219466588 CA388860823	251	F>C		No	ClinGen TOPMed
CA257494970 rs890656280	251	F>V		No	ClinGen Ensembl
rs763761321 CA7088740	253	Q>E		No	ClinGen ExAC gnomAD
rs1355502292 CA388860838	253	Q>R		No	ClinGen gnomAD
rs1237704081 CA388860842	254	R>G		No	ClinGen gnomAD
rs1334760881 CA388860847	254	R>S		No	ClinGen TOPMed
TCGA novel	265	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388861383 rs764678956	268	A>D		No	ClinGen gnomAD
CA257496694 rs764678956	268	A>G		No	ClinGen gnomAD
rs372615343 CA388861400	270	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs559714244 CA257496701	270	I>M		No	ClinGen Ensembl
CA388861409 rs1388303568	271	K>*		No	ClinGen gnomAD
rs927347968 CA257496707	274	V>G		No	ClinGen Ensembl
CA257496704 rs981833605	274	V>I		No	ClinGen gnomAD
rs1330472538 CA388861478	276	L>V		No	ClinGen gnomAD
TCGA novel	278	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766267049 CA7088763	278	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA388861508 rs1198319376	279	L>F		No	ClinGen gnomAD
CA7088765 rs754745915	280	K>E		No	ClinGen ExAC gnomAD
rs1208451312 CA388861527 TCGA novel	280	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA257496720 rs868288981	281	K>N		No	ClinGen Ensembl
CA7088766 rs781398129	282	L>F		No	ClinGen ExAC gnomAD
rs781398129 CA388861547	282	L>V		No	ClinGen ExAC gnomAD
rs756235422 CA7088768	283	L>S		No	ClinGen ExAC gnomAD
CA388861570 rs1257064270	284	H>D		No	ClinGen TOPMed
TCGA novel	284	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257496741 rs558608708	284	H>R		No	ClinGen gnomAD
CA257496744 rs937927408	287	N>S		No	ClinGen gnomAD
CA257496762 rs866100721	288	A>S		No	ClinGen Ensembl
rs1459207230 CA388861654	290	L>F		No	ClinGen gnomAD
rs1291601634 CA388861682	292	M>I		No	ClinGen gnomAD
CA388861687 rs1389892771	293	T>A		No	ClinGen gnomAD
CA388861716 rs1280159593	295	A>V		No	ClinGen gnomAD
CA7088770 rs749872365	300	V>L		No	ClinGen ExAC
CA388861756 rs1217983404	301	Q>K		No	ClinGen TOPMed
CA7088784 rs754799432	303	A>V		No	ClinGen ExAC gnomAD
CA388862069 rs568372341	304	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1432612609 CA388862075	305	E>D		No	ClinGen TOPMed
CA7088787 rs756323674	305	E>G		No	ClinGen ExAC gnomAD
CA7088786 rs752956324	305	E>K		No	ClinGen ExAC TOPMed gnomAD
CA388862076 rs1394319617	306	T>P		No	ClinGen TOPMed
rs749340109 CA7088789	307	L>*		No	ClinGen ExAC gnomAD
rs1302420835 CA388862100	309	Q>H		No	ClinGen gnomAD
CA7088790 rs757291015	309	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA388862125 rs1412685379	311	N>K		No	ClinGen TOPMed
CA388862127 rs1378254850	312	Q>K		No	ClinGen TOPMed
rs1412158843 CA388862131	312	Q>R		No	ClinGen gnomAD
CA388862135 rs1371804929	313	G>R		No	ClinGen gnomAD
rs1167931355 CA388862150	315	L>P		No	ClinGen gnomAD
CA7088834 rs748959859	316	S>R		No	ClinGen ExAC gnomAD
CA388862166 rs1295856534	318	A>S		No	ClinGen gnomAD
CA388862167 rs1295856534	318	A>T		No	ClinGen gnomAD
CA388862170 VAR_065722 rs1325466987	318	A>V	a patient with primary open angle glaucoma [UniProt]	No	ClinGen UniProt TOPMed dbSNP gnomAD
rs1166653520 CA388862172	319	H>D		No	ClinGen Ensembl
CA388862174 rs756920414	319	H>P		No	ClinGen ExAC TOPMed gnomAD
rs756920414 CA7088835	319	H>R		No	ClinGen ExAC TOPMed gnomAD
CA388862184 rs745385433	320	E>D		No	ClinGen ExAC TOPMed gnomAD
CA388862191 rs1355813994	322	L>F		No	ClinGen gnomAD
rs541327555 CA7088841	327	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs768371536 CA7088842	327	N>K		No	ClinGen ExAC gnomAD
CA388862248 rs1418463154	330	R>S		No	ClinGen gnomAD
CA7088845 rs765512694	331	A>P		No	ClinGen ExAC gnomAD
CA388862297 rs1335721755	337	S>I		No	ClinGen TOPMed gnomAD
rs1451596643 CA388862308	339	K>E		No	ClinGen gnomAD
CA388862320 rs1309771497	340	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7088849 rs372002940	341	V>A		No	ClinGen ESP ExAC gnomAD
rs372002940 CA257501281	341	V>E		No	ClinGen ESP ExAC gnomAD
rs1269936633 CA388862321	341	V>M		No	ClinGen TOPMed
CA388862330 rs1237948707	342	S>I		No	ClinGen gnomAD
CA257501293 COSM416249 rs913020687	343	L>F	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1594184278 CA388862336	343	L>S		No	ClinGen Ensembl
CA257501294 rs374092592	347	L>P		No	ClinGen TOPMed
rs374092592 CA388862366	347	L>R		No	ClinGen TOPMed
CA7088851 rs767828631	348	E>G		No	ClinGen ExAC gnomAD
COSM1300480 rs1345736757 CA388862374	349	D>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA388862385 rs1347198832	350	V>G		No	ClinGen TOPMed gnomAD
rs753119341 CA7088852	352	I>V		No	ClinGen ExAC gnomAD
rs1566676739 CA388862414	355	M>L		No	ClinGen Ensembl
rs1397567635 CA388862427	356	T>S		No	ClinGen TOPMed
CA388862710 rs1473434491	362	E>G		No	ClinGen TOPMed
VAR_065723	363	R>T	a patient with normal tension glaucoma [UniProt]	No	UniProt
rs763245499 CA7088867	364	V>D		No	ClinGen ExAC gnomAD
rs766608701 CA7088868	367	L>V		No	ClinGen ExAC gnomAD
rs759474031 CA7088870	369	K>E		No	ClinGen ExAC TOPMed gnomAD
rs768072609 CA7088871	370	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7088872 rs375859404	371	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7088873 rs980350108	371	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs867552844 CA257501656	373	L>F		No	ClinGen Ensembl
rs1354887203 CA388862869	376	D>G		No	ClinGen TOPMed
rs750114619 CA7088877	377	N>S		No	ClinGen ExAC gnomAD
CA7088878 rs758038121	379	D>N		No	ClinGen ExAC gnomAD
rs779600963 CA7088880	381	L>H		No	ClinGen ExAC gnomAD
CA388863800 rs1284509955	385	M>V		No	ClinGen gnomAD
CA388863823 rs1256186554	387	D>Y		No	ClinGen gnomAD
CA7088900 rs780545638	388	S>G		No	ClinGen ExAC gnomAD
rs1201518060 CA388863840 COSM1726587	388	S>N	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388863849 rs1594191726	389	S>N		No	ClinGen Ensembl
CA388863858 rs1242363274	390	D>N		No	ClinGen gnomAD
CA7088901 rs752720899	390	D>V		No	ClinGen ExAC gnomAD
rs1566680062 CA388863907	394	Q>*		No	ClinGen Ensembl
rs375942030 CA257535345	396	H>Y		No	ClinGen ESP TOPMed gnomAD
CA388863962 rs1361087931	398	S>R		No	ClinGen gnomAD
rs372186092 CA388863975 CA257535346	399	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1345788121 CA388863972	399	N>S		No	ClinGen TOPMed
rs1336479399 COSM263434 CA388863981	400	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1336479399 CA388863979	400	E>Q		No	ClinGen gnomAD
rs770808979 CA7088905	402	I>M		No	ClinGen ExAC gnomAD
rs779216995 CA7088906	403	A>E		No	ClinGen ExAC gnomAD
rs775425686 CA388864054	407	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1165875686 CA388864059	407	Q>R		No	ClinGen TOPMed
CA7088911 rs769167612	409	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7088910 rs761225961	409	Q>R		No	ClinGen ExAC gnomAD
CA388864104 rs777058053	411	S>C		No	ClinGen ExAC gnomAD
CA7088913 rs777058053	411	S>F		No	ClinGen ExAC gnomAD
CA388864127 rs1486475994	413	L>R		No	ClinGen TOPMed
CA7088915 rs765472672	414	Q>K		No	ClinGen ExAC gnomAD
rs1594192074 CA388864133	414	Q>R		No	ClinGen Ensembl
rs759080621 CA7088917	419	A>V		No	ClinGen ExAC gnomAD
rs752135941 CA7088919	421	L>V		No	ClinGen ExAC gnomAD
rs1468265707 CA388864225	423	D>N		No	ClinGen TOPMed
rs201726404 CA7088920	424	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7088921 rs764156147	424	K>R		No	ClinGen ExAC gnomAD
CA7088922 rs753779369	426	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	426	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1354444404 CA388864289	428	L>F		No	ClinGen TOPMed gnomAD
rs190985984 CA388864326	432	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7088928 rs780261911	433	R>S		No	ClinGen ExAC gnomAD
rs768685085 CA7088929	434	E>Q		No	ClinGen ExAC gnomAD
rs1236940313 CA388864575	436	A>V		No	ClinGen gnomAD
CA388864577 rs1279095388	437	Q>E		No	ClinGen gnomAD
rs1279095388 CA388864576	437	Q>K		No	ClinGen gnomAD
CA388864602 rs1225510128	440	D>Y		No	ClinGen gnomAD
CA7088951 rs375450848	442	K>N		No	ClinGen ESP ExAC gnomAD
rs747187953 CA7088950	442	K>R		No	ClinGen ExAC gnomAD
rs781219239 CA7088952	444	E>D		No	ClinGen ExAC gnomAD
rs1227603377 CA388864632	445	V>I		No	ClinGen TOPMed
rs1342579243 CA388864647	447	N>S		No	ClinGen TOPMed
rs1299597346 CA388864658	448	I>M		No	ClinGen TOPMed
rs1594198911 CA388864653	448	I>V		No	ClinGen Ensembl
rs192566786 CA7088953	451	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA388864684 rs1436629419	452	H>R		No	ClinGen gnomAD
rs770190452 CA7088954	453	K>R		No	ClinGen ExAC gnomAD
rs1594198975 CA388864711	456	V>I		No	ClinGen Ensembl
CA7088957 rs201228217	458	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1385302435 CA388864736	460	Q>K		No	ClinGen TOPMed
rs920085442 CA257535582	460	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	461	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1030117244 CA257535583	462	A>T		No	ClinGen Ensembl
TCGA novel	465	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	465	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389666970 CA388864776	466	S>P		No	ClinGen gnomAD
rs184853466 CA257535585	467	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7088959 rs775331955	468	P>L		No	ClinGen ExAC gnomAD
rs1017455134 CA257535586	471	R>S		No	ClinGen Ensembl
CA7088962 rs776264535	472	Q>H		No	ClinGen ExAC
CA7088964 rs200919038	474	E>D		No	ClinGen ExAC gnomAD
CA388864827 rs1323146686	474	E>K		No	ClinGen TOPMed gnomAD
rs1307912377 CA388864838	475	P>L		No	ClinGen TOPMed
CA388864844 rs1410684356	476	A>V		No	ClinGen gnomAD
CA7088965 rs750336813	478	H>Y		No	ClinGen ExAC gnomAD
rs762681847 CA7088966	479	P>A		No	ClinGen ExAC gnomAD
CA7088967 rs766144242	481	V>A		No	ClinGen ExAC TOPMed gnomAD
CA257535588 rs200541068	482	L>F		No	ClinGen TOPMed gnomAD
rs368781265 CA257535589	483	Q>K	Leber congenital amaurosis 6 (lca6) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs781308219 CA7088970	485	N>D		No	ClinGen ExAC gnomAD
CA7088971 rs752788894	486	T>A		No	ClinGen ExAC gnomAD
rs752788894 CA7088972	486	T>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	487	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388864918 rs370711678	488	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7088986 rs759270052	490	P>L		No	ClinGen ExAC gnomAD
rs1372655509 CA388865076	491	S>R		No	ClinGen TOPMed
CA388865083 rs1426406294	491	S>T		No	ClinGen gnomAD
CA257535718 rs1055644990	493	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1420366070 CA388865139	496	Q>R		No	ClinGen TOPMed gnomAD
rs1222393748 CA388865203	501	L>P		No	ClinGen TOPMed
rs1255008761 CA388865214	502	S>F		No	ClinGen gnomAD
CA7088991 rs754370735	503	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs754370735 CA388865222	503	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA257535719 rs754370735	503	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA257535720 rs776115949	504	V>M		No	ClinGen Ensembl
CA388865245 rs1203369388	506	N>D		No	ClinGen TOPMed
rs779501281 CA7088993	508	L>*		No	ClinGen ExAC TOPMed gnomAD
CA388865272 rs779501281	508	L>S		No	ClinGen ExAC TOPMed gnomAD
CA227903 rs61751267 RCV000086239	509	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA7088995 rs772522272	510	V>I		No	ClinGen ExAC TOPMed gnomAD
CA257535721 rs911423186	513	A>V		No	ClinGen Ensembl
TCGA novel	514	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772778283 CA7089001	515	T>A		No	ClinGen ExAC TOPMed gnomAD
rs762856248 CA7089002	515	T>N		No	ClinGen ExAC TOPMed gnomAD
CA7089005 rs542639585	517	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257535722 rs942858100	517	L>W		No	ClinGen Ensembl
CA257535723 rs759817551	518	E>K		No	ClinGen Ensembl
TCGA novel	519	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388865400 rs1384507929	520	E>G		No	ClinGen gnomAD
rs1419784919 CA388865415	521	K>N		No	ClinGen gnomAD
CA7089007 rs775613696	523	R>S		No	ClinGen ExAC TOPMed gnomAD
CA257535724 rs919983242	523	R>W		No	ClinGen Ensembl
CA388865436 rs1453246163	524	D>N		No	ClinGen gnomAD
CA7089008 rs552933130	525	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA388865451 rs1337635928	525	M>V		No	ClinGen gnomAD
CA257535725 rs1004194147	529	Q>*		No	ClinGen TOPMed
rs765874054 CA7089012	529	Q>H		No	ClinGen ExAC gnomAD
rs757336787 CA7089011	529	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs367767674 CA7089013	530	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs758886206 CA7089014	533	N>Y		No	ClinGen ExAC gnomAD
CA7089016 rs747826903	534	V>M		No	ClinGen ExAC TOPMed gnomAD
rs755777906 CA7089017	535	C>G		No	ClinGen ExAC TOPMed gnomAD
CA7089018 rs777234027	535	C>Y		No	ClinGen ExAC gnomAD
CA388865550 rs371513311	536	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs907195332 CA257535726	536	Y>C		No	ClinGen Ensembl
rs770390237 CA7089020	537	Q>R		No	ClinGen ExAC gnomAD
rs777514145 CA7089036	539	E>G		No	ClinGen ExAC gnomAD
rs755232354 CA7089035	539	E>K		No	ClinGen ExAC gnomAD
rs1347016869 CA388865625	542	A>T		No	ClinGen gnomAD
rs1011514299 CA257535768	542	A>V		No	ClinGen TOPMed
rs1232991242 CA388865643	543	M>I		No	ClinGen gnomAD
CA257535769 rs1007825048	543	M>T		No	ClinGen gnomAD
rs1273869576 CA388865656	544	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7089038 rs748892211	544	M>K		No	ClinGen ExAC gnomAD
CA7089040 rs778389059	545	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7089039 rs756799100	545	T>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1489878856 CA388865710	549	N>S		No	ClinGen gnomAD
CA257535770 rs977051095	551	N>H		No	ClinGen TOPMed
TCGA novel	552	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	552	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	553	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388865765 rs1185098858	554	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA388865792 rs1419447002	556	E>G		No	ClinGen gnomAD
TCGA novel	559	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257535772 rs991412682	559	E>G		No	ClinGen TOPMed gnomAD
rs776963292 CA7089046	563	R>G	Leber congenital amaurosis 6 (lca6) [Ensembl]	No	ClinGen ExAC gnomAD
rs145055116 CA7089048	563	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145055116 CA7089047	563	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1594205165 CA388865886	566	D>A		No	ClinGen Ensembl
CA257535774 rs372697513	566	D>H		No	ClinGen ESP TOPMed gnomAD
CA257535775 rs372697513	566	D>Y		No	ClinGen ESP TOPMed gnomAD
CA388865901 rs1432667676	567	L>P		No	ClinGen gnomAD
RCV000086241 CA227905 rs61751273	569	N>K		No	ClinGen ClinVar Ensembl dbSNP
CA388865935 rs1364379385	570	N>T		No	ClinGen gnomAD
CA388865946 rs1246707448	571	R>C		No	ClinGen TOPMed gnomAD
rs1246707448 CA388865945	571	R>G		No	ClinGen TOPMed gnomAD
rs766914894 CA7089052	571	R>H		No	ClinGen ExAC TOPMed
rs1317058642 CA388865953	572	I>V		No	ClinGen gnomAD
CA388865967 rs1357433663	573	K>*		No	ClinGen gnomAD
TCGA novel	575	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388865992 rs1209280970	575	L>P		No	ClinGen gnomAD
CA7089054 rs759969491	579	L>*		No	ClinGen ExAC gnomAD
CA388866037 rs759969491	579	L>S		No	ClinGen ExAC gnomAD
rs767741040 CA7089055	580	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA388866051 rs1186021595	580	R>S		No	ClinGen gnomAD
rs753553462 CA7089057	581	S>N		No	ClinGen ExAC TOPMed
TCGA novel	581	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756889126 CA388866089	583	D>E		No	ClinGen ExAC gnomAD
rs778478985 CA7089059	584	L>F		No	ClinGen ExAC gnomAD
rs1315779878 CA388866106	585	P>R		No	ClinGen gnomAD
rs1387707646 CA388866113	586	T>R		No	ClinGen gnomAD
rs538772092 CA7089061	587	S>P		No	ClinGen 1000Genomes ExAC
rs746897328 CA7089063	588	E>*		No	ClinGen ExAC gnomAD
rs1393803023 CA388866817	591	K>*		No	ClinGen TOPMed
CA7089092 rs745899255	591	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1330934849 CA388866826	592	D>G		No	ClinGen gnomAD
CA388866823 rs1281599784	592	D>H		No	ClinGen gnomAD
CA388866853 rs1303386177	596	G>D		No	ClinGen TOPMed
rs772568245 CA7089093	597	T>A		No	ClinGen ExAC gnomAD
CA388866863 rs74034910	598	R>L	Leber congenital amaurosis 6 (lca6) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388866872 rs1415117927	600	L>S		No	ClinGen TOPMed
CA7089102 rs767597417	603	C>R		No	ClinGen ExAC gnomAD
VAR_065727	603	C>S		No	UniProt
CA388866889 rs1217810346	603	C>Y		No	ClinGen TOPMed
CA7089103 rs752636198	606	T>I		No	ClinGen ExAC gnomAD
rs576270075 CA7089104	607	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7089105 rs777682311	608	P>T		No	ClinGen ExAC gnomAD
CA7089106 rs749579827	610	H>R		No	ClinGen ExAC gnomAD
rs1485955933 CA388866958	614	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1390236427 CA388866968	615	K>E		No	ClinGen gnomAD
rs1383147716 CA388866981	616	V>M		No	ClinGen gnomAD
rs1325199161 CA388867009	618	I>V		No	ClinGen gnomAD
CA7089109 rs542030078	622	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1191991635 CA388867054	622	H>Y		No	ClinGen gnomAD
CA7089110 rs772090790	623	Q>E		No	ClinGen ExAC gnomAD
rs776025469 CA7089111	623	Q>R		No	ClinGen ExAC gnomAD
CA388867111 rs1247485541	626	N>S		No	ClinGen gnomAD
TCGA novel	627	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388867129 rs1263339632	628	F>I		No	ClinGen gnomAD
rs572367084 CA7089114	631	H>D		No	ClinGen 1000Genomes ExAC gnomAD
CA388867186 rs1187907183	632	I>V		No	ClinGen TOPMed gnomAD
CA7089116 rs774019346	633	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1001318002 CA257536060	634	Q>K		No	ClinGen Ensembl
rs767116798 CA7089118	635	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA257536062 rs1010290273 VAR_065729	638	T>I		No	ClinGen UniProt TOPMed dbSNP gnomAD
CA257536063 rs926693760	640	A>V		No	ClinGen TOPMed
rs779025194 CA7089124	642	L>V		No	ClinGen ExAC gnomAD
rs1477088537 CA388867300	643	A>V		No	ClinGen TOPMed
rs1423554687 CA388867309	645	A>T		No	ClinGen TOPMed
rs746080324 CA7089125	645	A>V		No	ClinGen ExAC gnomAD
CA7089126 rs758512410	646	G>E		No	ClinGen ExAC gnomAD
CA388867337 rs1194776742	649	Q>H		No	ClinGen TOPMed
rs747575530 CA7089128	649	Q>K		No	ClinGen ExAC gnomAD
rs1207832537 CA388867334	649	Q>P		No	ClinGen gnomAD
rs769167245 CA7089129	650	P>L		No	ClinGen ExAC TOPMed gnomAD
CA388867343 rs769167245	650	P>R		No	ClinGen ExAC TOPMed gnomAD
CA388867355 rs1462551011	652	T>I		No	ClinGen gnomAD
CA388867360 rs1594212489	653	F>S		No	ClinGen Ensembl
rs1180193659 CA388867369	654	C>F		No	ClinGen gnomAD
rs748493769 CA7089131	656	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7089132 rs564462751	657	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs773927990 CA7089133	658	F>L		No	ClinGen ExAC gnomAD
rs966228249 CA388867444	660	D>E		No	ClinGen gnomAD
rs759235827 CA7089134	660	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1177534305 CA388867481	663	T>I		No	ClinGen gnomAD
rs1594212597 CA388867473	663	T>P		No	ClinGen Ensembl
rs929334160 CA257536065	664	H>Q		No	ClinGen TOPMed
rs1446549542 CA388867504	665	C>S		No	ClinGen gnomAD
CA388867522 rs1377877363	667	P>A		No	ClinGen TOPMed gnomAD
rs1308734493 CA388867560	670	V>L		No	ClinGen gnomAD
rs1218981990 CA388867587	672	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1328030621 CA388867609	674	P>A		No	ClinGen TOPMed
rs760192969 CA7089137	674	P>H		No	ClinGen ExAC gnomAD
CA257536066 rs997721971	677	D>G		No	ClinGen Ensembl
CA7089140 rs761562187	679	T>S		No	ClinGen ExAC gnomAD
CA7089142 rs750676935	680	S>F		No	ClinGen ExAC gnomAD
CA257536067 rs868548381	681	Q>*		No	ClinGen Ensembl
rs1249911932 CA388867702	681	Q>R		No	ClinGen gnomAD
CA257536068 rs890716590	683	V>M		No	ClinGen TOPMed gnomAD
rs1566342086 CA388867731	684	M>V		No	ClinGen Ensembl
rs758603764 CA7089143	685	E>G		No	ClinGen ExAC gnomAD
rs111288670 CA257536069	686	T>I		No	ClinGen Ensembl
rs780193224 CA257536070	687	D>H		No	ClinGen ExAC TOPMed gnomAD
rs780193224 CA7089144	687	D>N		No	ClinGen ExAC TOPMed gnomAD
rs781576477 CA7089147	690	F>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1594212973 CA388867859	694	L>I		No	ClinGen Ensembl
CA7089148 rs377020451	695	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7089149 rs778197822	695	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7089150 rs749603532	698	S>L		No	ClinGen ExAC gnomAD
rs771851462 CA7089151	699	A>S		No	ClinGen ExAC gnomAD
rs768190736 CA7089154	700	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775239691 CA7089152	700	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1456098073 CA388867937	701	L>F		No	ClinGen TOPMed
CA388867980 rs1184723905	705	Q>H		No	ClinGen TOPMed gnomAD
CA388867982 rs1341205662	706	A>T		No	ClinGen TOPMed
CA7089160 rs762670808	707	M>T		No	ClinGen ExAC gnomAD
rs372090642 CA7089159	707	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1413131336 CA388868018	708	A>V		No	ClinGen gnomAD
rs1364924625 CA388868026	709	S>G		No	ClinGen Ensembl
CA388868049 rs927137137	710	E>D		No	ClinGen gnomAD
CA257536071 rs1045661664	710	E>V		No	ClinGen Ensembl
CA388868058 rs1232275939	711	H>R		No	ClinGen TOPMed
CA388868100 rs1444611662	714	L>P		No	ClinGen TOPMed
CA7089163 rs755065072	714	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA257536073 rs1009663907	716	A>E		No	ClinGen TOPMed
CA388868114 rs1376310690	716	A>T		No	ClinGen TOPMed
CA388868151 rs1594213253	719	I>V		No	ClinGen Ensembl
rs1594213282 CA388868230	724	V>G		No	ClinGen Ensembl
CA388868221 rs1351213806	724	V>M		No	ClinGen gnomAD
CA257536074 RCV000732654 rs755791291	725	L>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs778072446 CA257536075	726	E>*		No	ClinGen ExAC TOPMed gnomAD
rs757642045 CA7089169	726	E>D		No	ClinGen ExAC gnomAD
CA7089168 rs749698461	726	E>G		No	ClinGen ExAC gnomAD
rs778072446 CA7089167	726	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA388868311 rs1246754738	731	V>I		No	ClinGen gnomAD
rs1466904339 CA388868328	732	H>R		No	ClinGen TOPMed
CA7089172 rs768117752	733	G>S		No	ClinGen ExAC gnomAD
CA7089175 rs769776142	735	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7089176 rs769776142	735	A>T		No	ClinGen ExAC TOPMed gnomAD
rs529475742 CA7089177	736	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1443900524 CA388868360	737	L>V		No	ClinGen gnomAD
rs1448378996 CA388868367	738	I>T		No	ClinGen gnomAD
rs774600464 CA7089179	738	I>V		No	ClinGen ExAC gnomAD
CA7089197 rs774122422	741	G>V		No	ClinGen ExAC TOPMed gnomAD
CA388868398 rs1214200780	742	G>R		No	ClinGen TOPMed
rs569746036 CA257536085	743	E>G		No	ClinGen 1000Genomes
rs535695411 CA7089200	746	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA388868432 rs1285261498	747	V>F		No	ClinGen TOPMed
rs1324704801 CA388868441	748	L>R		No	ClinGen gnomAD
TCGA novel	750	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239652422 CA388868475	752	M>I		No	ClinGen gnomAD
rs760853561 CA7089201	753	R>G		No	ClinGen ExAC TOPMed gnomAD
rs376493676 CA7089202	755	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs754461580 COSM3419698 CA7089203	755	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754461580 CA388868490	755	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1186166215 CA388868504	757	P>L		No	ClinGen gnomAD
rs937200139 CA257536086	758	I>M		No	ClinGen Ensembl
rs1233116030 CA388868517	759	K>N		No	ClinGen gnomAD
CA7089205 rs199593721	762	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7089208 rs758652031	764	A>E		No	ClinGen ExAC TOPMed gnomAD
CA7089206 rs750803190	764	A>T		No	ClinGen ExAC gnomAD
TCGA novel	769	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745694912 CA7089215	770	K>E		No	ClinGen ExAC gnomAD
CA388868590 rs1273603972	771	A>P		No	ClinGen TOPMed gnomAD
CA388868591 rs1273603972	771	A>T		No	ClinGen TOPMed gnomAD
rs577932201 CA257536087	772	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388868602 rs1199391518	773	V>L		No	ClinGen gnomAD
TCGA novel	775	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7089217 rs775817675	776	S>*		No	ClinGen ExAC gnomAD
rs1594214311 CA388868620	776	S>T		No	ClinGen Ensembl
rs1483742101 CA388868630	777	T>I		No	ClinGen gnomAD
CA7089220 rs768913743	778	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7089219 rs768913743	778	D>N		No	ClinGen ExAC TOPMed gnomAD
CA388868659 rs1375869921	782	G>D		No	ClinGen gnomAD
rs563490738 CA7089223	783	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388868676 rs1392161279	785	A>D		No	ClinGen gnomAD
TCGA novel	785	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427873310 CA388868691	787	E>D		No	ClinGen TOPMed gnomAD
CA388868706 rs1366378608	789	E>D		No	ClinGen gnomAD
CA388868725 rs1293615457	790	F>L		No	ClinGen TOPMed
CA7089244 rs774595166 COSM263440	792	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs766829101 CA7089243	792	S>P		No	ClinGen ExAC gnomAD
rs774595166 CA257536128	792	S>W		No	ClinGen ExAC gnomAD
CA388868755 rs1026104462	795	W>*		No	ClinGen TOPMed gnomAD
CA257536129 rs1026104462	795	W>C		No	ClinGen TOPMed gnomAD
rs756795357 CA7089248	795	W>G		No	ClinGen ExAC gnomAD
CA7089249 rs764645510	796	E>D		No	ClinGen ExAC gnomAD
CA388868757 rs1566344172	796	E>K		No	ClinGen Ensembl
CA7089250 rs750432423	797	P>S		No	ClinGen ExAC TOPMed
rs565837539 CA7089252	800	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1458116430 CA388868793	801	L>Q		No	ClinGen gnomAD
rs148331694 CA257536130	803	I>F		No	ClinGen 1000Genomes
COSM954385 CA388868825 rs1387094755	804	E>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs367869842 CA7089254	804	E>K		No	ClinGen ESP ExAC gnomAD
rs367869842 CA388868822	804	E>Q		No	ClinGen ESP ExAC gnomAD
CA388868844 rs1461328623	805	I>T		No	ClinGen TOPMed
rs1437280970 CA388868888	808	C>Y		No	ClinGen TOPMed gnomAD
rs748351426 CA7089256	809	C>R		No	ClinGen ExAC gnomAD
CA7089257 rs374681726	810	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_065732	812	R>H	does not affect the interaction with NPHP4 [UniProt]	No	UniProt
rs749333696 CA7089259	812	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1304371827 CA388868957	813	S>I		No	ClinGen Ensembl
rs372647080 CA388868973	814	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs375413087 CA7089264	815	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7089263 rs767832323	815	W>R		No	ClinGen ExAC
rs761438226 CA7089265	816	L>M		No	ClinGen ExAC gnomAD
CA7089267 rs749904156	819	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA257536133 rs936240310	820	P>H		No	ClinGen TOPMed
CA388869077 rs1382924559	822	P>S		No	ClinGen TOPMed
rs1382924559 CA388869073	822	P>T		No	ClinGen TOPMed
rs751521888 CA7089271	823	Y>F	Cone-rod dystrophy 13 (cord13) [Ensembl]	No	ClinGen ExAC gnomAD
CA7089270 rs766249439	823	Y>H		No	ClinGen ExAC gnomAD
CA388869182 rs1594216057	830	T>P		No	ClinGen Ensembl
CA7089276 rs777989366	835	D>Y		No	ClinGen ExAC
rs1410118070 CA388869226	836	T>A		No	ClinGen gnomAD
rs771018578 CA7089280	836	T>I		No	ClinGen ExAC TOPMed gnomAD
CA388869225 rs1410118070	836	T>P		No	ClinGen gnomAD
rs1348442013 CA388869230	837	A>P		No	ClinGen gnomAD
rs1231166099 CA388869242	839	I>F		No	ClinGen gnomAD
TCGA novel	839	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7089288 rs769362715	841	A>G		No	ClinGen ExAC gnomAD
VAR_065736	841	A>T		No	UniProt
CA388869273 rs74034911	843	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388869275 rs1331184432	844	N>D		No	ClinGen Ensembl
rs1192084424 CA612384098	846	Y>*		No	ClinGen gnomAD
rs751616559 CA7089292	848	R>T		No	ClinGen ExAC gnomAD
rs759534237 CA7089293	849	D>Y		No	ClinGen ExAC gnomAD
rs1566344792 CA388869349	855	V>L		No	ClinGen Ensembl
RCV000086246 rs61751269	856	L>missing		No	ClinVar dbSNP
rs777883714 CA7089296	858	T>A		No	ClinGen ExAC gnomAD
CA7089297 rs754055883	859	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1369458987 CA388869376	860	D>N		No	ClinGen gnomAD
rs1217460770 CA388869384	861	L>M		No	ClinGen gnomAD
CA388869410 rs201639860	864	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257536139 rs1026220517	864	Y>C		No	ClinGen TOPMed
rs746257247 CA257536138	864	Y>H		No	ClinGen Ensembl
CA388869431 rs1222586521	868	E>V		No	ClinGen gnomAD
CA257536140 rs181222325	869	A>V		No	ClinGen 1000Genomes
rs1331908454 CA388869442	870	L>S		No	ClinGen gnomAD
rs780497273 CA7089300	871	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1487698817 CA388869447	871	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7089302 rs747355604	872	I>L		No	ClinGen ExAC TOPMed gnomAD
CA7089303 rs753100862	873	H>D		No	ClinGen ExAC TOPMed gnomAD
rs774012865 CA7089306	874	V>I		No	ClinGen ExAC gnomAD
rs61751274 VAR_076792 CA227915 RCV000086248	876	D>G	impairs interaction with NPHP4 [UniProt]	No	ClinGen ClinVar UniProt Ensembl dbSNP
rs371117194 CA7089308	878	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA388869513 rs1325166084	881	E>K		No	ClinGen TOPMed gnomAD
CA388869511 rs1325166084	881	E>Q		No	ClinGen TOPMed gnomAD
CA7089309 rs200657688	882	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_065738	883	G>D		No	UniProt
rs368426313 CA7089311	884	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757511584 CA388869538	885	Y>C		No	ClinGen ExAC gnomAD
CA7089313 rs757511584	885	Y>S		No	ClinGen ExAC gnomAD
rs780587095 CA388869562	890	R>G		No	ClinGen ExAC TOPMed gnomAD
CA388869564 rs374913550	890	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1594216944 CA388869565	891	V>M		No	ClinGen Ensembl
rs768968296 CA7089319	892	P>A		No	ClinGen ExAC TOPMed gnomAD
rs768968296 CA388869571	892	P>T		No	ClinGen ExAC TOPMed gnomAD
CA388869595 rs1179331931	896	L>F		No	ClinGen gnomAD
rs1474781586 CA388869597	896	L>H		No	ClinGen gnomAD
CA388869607 rs1182119707	898	K>E		No	ClinGen gnomAD
rs1330207465 CA388869610	898	K>R		No	ClinGen TOPMed
rs1594217045 CA388869629	901	S>T		No	ClinGen Ensembl
CA257536144 rs918924266	904	G>S		No	ClinGen Ensembl
CA7089337 rs755524774	907	N>K		No	ClinGen ExAC gnomAD
rs759254680 CA7089338	909	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7089340 rs756501591	910	D>H		No	ClinGen ExAC
CA388870487 rs1357496245	911	P>T		No	ClinGen gnomAD
TCGA novel	914	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	915	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745507144 CA7089342	916	N>S		No	ClinGen ExAC gnomAD
rs771761377 CA7089343	917	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1279504140 CA388870538	918	S>F		No	ClinGen gnomAD
rs1555302659 RCV000086249	921	V>missing		No	ClinVar dbSNP
CA388870555 rs1272895307	921	V>L		No	ClinGen TOPMed
CA388870564 rs1346245632	922	Q>P		No	ClinGen gnomAD
CA388870570 rs1402057058	923	L>Q		No	ClinGen Ensembl
rs1594220746 CA388870577	924	D>G		No	ClinGen Ensembl
CA7089344 rs746435599	926	K>R		No	ClinGen ExAC gnomAD
rs1229285180 CA388870606	928	P>S		No	ClinGen TOPMed
CA257536286 rs894846700	930	I>V		No	ClinGen gnomAD
CA7089347 rs761644947	931	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA388870625 rs761644947	931	P>T		No	ClinGen ExAC gnomAD
rs763149858 CA7089350	932	P>R		No	ClinGen ExAC
rs373491610 CA388870643	934	S>N		No	ClinGen ESP ExAC gnomAD
rs766456019 CA7089351	934	S>R		No	ClinGen ExAC
CA7089352 rs373491610	934	S>T		No	ClinGen ESP ExAC gnomAD
CA257536287 rs1043819849	935	F>S		No	ClinGen Ensembl
CA257536288 rs903517824	939	E>Q		No	ClinGen Ensembl
rs369554196 CA7089354	940	A>D		No	ClinGen ESP ExAC
CA7089353 rs376805437	940	A>P		No	ClinGen ESP ExAC gnomAD
rs753237146 CA7089355	941	Q>H		No	ClinGen ExAC gnomAD
rs1308897811 CA388870717	945	K>N		No	ClinGen TOPMed gnomAD
rs575204640 CA7089356	947	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA388870730 rs575204640	947	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1408393799 CA388870751	950	S>N		No	ClinGen gnomAD
CA7089357 rs778265703	955	S>A		No	ClinGen ExAC gnomAD
rs867712361 CA257536292	958	E>K		No	ClinGen Ensembl
CA7089359 rs758124463	959	K>E		No	ClinGen ExAC TOPMed gnomAD
CA7089361 rs35810926	960	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7089363 rs369202663	963	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs757513142 CA7089376	967	Q>R		No	ClinGen ExAC gnomAD
rs552951112 CA7089377	968	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1211361786 CA388870897	970	S>Y		No	ClinGen gnomAD
rs1048389828 CA257536357	973	V>I		No	ClinGen TOPMed
CA388870928 rs886050399	975	I>N		No	ClinGen TOPMed gnomAD
CA257536358 rs900012610	977	A>T		No	ClinGen Ensembl
CA257536359 rs995654544	978	G>D		No	ClinGen TOPMed gnomAD
rs1250035608 CA388870966	979	Q>H		No	ClinGen gnomAD
CA388870987 rs376213645	981	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
COSM284685 rs376213645 CA7089381	981	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7089382 rs572785791	982	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7089383 rs777650004	983	K>M		No	ClinGen ExAC gnomAD
CA388871012 rs371419221	983	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA388871044 rs1394197890	986	P>T		No	ClinGen TOPMed gnomAD
CA7089385 rs201597595	988	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7089386 rs774678526	989	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7089388 rs759678050	990	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1390252628 CA388871113	991	E>G		No	ClinGen gnomAD
TCGA novel	992	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7089389 rs772275645	993	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1484164805 CA388871155	994	E>V		No	ClinGen TOPMed
CA388871183 rs1254110768	996	E>G		No	ClinGen TOPMed
CA257536361 rs750970301	997	H>Y		No	ClinGen Ensembl
CA388871265 rs1340635058	1002	Y>C		No	ClinGen gnomAD
rs199883903 CA257536362	1003	S>P		No	ClinGen 1000Genomes
rs764718096 COSM954391 CA7089393	1010	R>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA388871899 rs969637624	1010	R>K		No	ClinGen TOPMed gnomAD
CA388871905 rs1484949484	1011	I>V		No	ClinGen gnomAD
CA7089395 rs762276754	1012	G>D		No	ClinGen ExAC
rs754373368 CA7089394	1012	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1289388105 CA388871914	1013	V>I		No	ClinGen TOPMed
CA7089397 rs751283891 COSM469782	1014	Q>*	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7089398 rs370740859	1014	Q>R		No	ClinGen ESP ExAC gnomAD
rs780757054 CA7089399	1015	G>R		No	ClinGen ExAC gnomAD
CA7089400 rs752237021	1016	K>R		No	ClinGen ExAC gnomAD
CA7089401 rs374298935	1019	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1594225065 TCGA novel CA388871972	1021	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA388871976 rs367899074	1022	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs750041493 CA7089402	1023	S>T		No	ClinGen ExAC
rs1287851951 CA388871989	1024	L>F		No	ClinGen gnomAD
TCGA novel	1024	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1024	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388872002 rs1402279569	1025	N>K		No	ClinGen gnomAD
rs1397469132 CA388872009	1026	I>M		No	ClinGen TOPMed gnomAD
CA7089405 rs757145904	1028	N>D		No	ClinGen ExAC gnomAD
rs778563328 CA7089406	1029	G>R		No	ClinGen ExAC gnomAD
rs371675108 CA7089407	1031	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7089409 rs775804131	1033	E>V		No	ClinGen ExAC gnomAD
rs375835014 CA7089429	1034	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7089430 rs776587567	1035	V>M		No	ClinGen ExAC gnomAD
TCGA novel	1040	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs988867957 CA257536561	1042	F>I		No	ClinGen gnomAD
CA7089431 rs748192524	1042	F>L		No	ClinGen ExAC TOPMed gnomAD
CA388872145 rs1393956399	1045	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	1047	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770235549 CA7089432	1047	S>I		No	ClinGen ExAC gnomAD
rs763279017 CA7089434	1049	I>T		No	ClinGen ExAC gnomAD
rs1352582546 CA388872174	1049	I>V		No	ClinGen gnomAD
CA7089435 rs766701403	1050	G>D		No	ClinGen ExAC gnomAD
CA388872189 rs1438807111	1051	D>E		No	ClinGen gnomAD
rs775193329 CA7089436	1051	D>G		No	ClinGen ExAC gnomAD
rs760310539 CA7089437	1052	G>D		No	ClinGen ExAC gnomAD
CA7089438 rs201521970 VAR_067187	1057	H>L	Cone-rod dystrophy 13 (cord13) found in a patient associated with LCA6 [Ensembl, UniProt]	No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7089440 rs756754711	1058	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1062	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388872284 rs1203490574	1064	L>S		No	ClinGen TOPMed
CA388872309 rs1213596636	1068	A>P		No	ClinGen TOPMed gnomAD
rs1213596636 CA388872310	1068	A>S		No	ClinGen TOPMed gnomAD
rs1213596636 COSM3419703 CA388872308	1068	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA257536563 rs372226099	1074	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7089443 rs533471221	1074	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7089444 rs533471221	1074	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388872357 rs1165134621	1076	H>Y		No	ClinGen gnomAD
rs781426298 CA7089448	1077	P>A		No	ClinGen ExAC
TCGA novel	1077	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459855378 CA388872371	1078	V>I		No	ClinGen gnomAD
rs553302219 CA257536564	1079	N>D		No	ClinGen Ensembl
rs751421999 CA7089470	1083	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7089471 rs751421999	1083	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA7089472 rs781308681	1084	S>P		No	ClinGen ExAC gnomAD
rs1313727793 CA388873065	1086	Q>K		No	ClinGen gnomAD
rs1210425656 CA388873070	1086	Q>P		No	ClinGen gnomAD
CA388873069 rs1210425656	1086	Q>R		No	ClinGen gnomAD
CA7089474 rs756204198	1087	G>S		No	ClinGen ExAC gnomAD
rs777901439 CA7089475	1089	E>G		No	ClinGen ExAC gnomAD
CA388873085 rs1484576539	1089	E>Q		No	ClinGen TOPMed gnomAD
CA388873098 rs749295693	1091	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7089476 rs749295693	1091	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1092	E>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170971723 CA388873124	1094	Q>H		No	ClinGen TOPMed
rs1023302172 CA257537008	1095	T>N		No	ClinGen Ensembl
CA388873136 rs1471154570	1096	T>I		No	ClinGen gnomAD
rs779356445 CA7089478	1097	D>N		No	ClinGen ExAC TOPMed gnomAD
rs746275518 CA7089479	1101	V>I		No	ClinGen ExAC TOPMed gnomAD
rs924929431 CA257537010	1103	V>A		No	ClinGen Ensembl
rs373866085 CA7089482	1104	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1269495859 CA388873189	1104	P>L		No	ClinGen TOPMed
CA388873197 rs761524733	1106	M>L		No	ClinGen ExAC gnomAD
rs761524733 CA7089484	1106	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1349361719 CA388873235	1111	P>S		No	ClinGen TOPMed gnomAD
CA388873240 rs1346141644	1112	K>E		No	ClinGen TOPMed
rs769509351 CA7089503	1114	D>Y		No	ClinGen ExAC gnomAD
CA7089504 rs748847818	1116	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA388856739 rs1388092014	1117	K>R		No	ClinGen TOPMed
rs1194195334 CA388856750	1118	M>T		No	ClinGen gnomAD
rs183595530 CA7089505	1119	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1047316095 CA257547013	1121	E>*		No	ClinGen Ensembl
rs767287670 CA388856816	1123	V>F		No	ClinGen ExAC TOPMed gnomAD
rs767287670 CA7089507	1123	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1391694677 CA388856836	1124	S>F		No	ClinGen gnomAD
TCGA novel	1126	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388856907 rs1295870315	1130	E>G		No	ClinGen gnomAD
VAR_067188	1130	E>Q	found in a patient with LCA6 [UniProt]	No	UniProt
CA388856921 rs755631828	1131	A>G		No	ClinGen gnomAD
CA257547023 rs755631828	1131	A>V		No	ClinGen gnomAD
rs1269439681 CA388856940	1133	V>M		No	ClinGen gnomAD
CA388856962 rs1235103331	1134	M>I		No	ClinGen gnomAD
rs1566365922 CA388856959	1134	M>T		No	ClinGen Ensembl
CA257547029 rs974127830	1138	N>I		No	ClinGen TOPMed gnomAD
CA388857018 rs974127830	1138	N>S		No	ClinGen TOPMed gnomAD
rs374187449 CA7089511	1139	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA388857084 rs765299022	1143	Y>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1143	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388857106 rs758959479	1145	E>A		No	ClinGen ExAC TOPMed gnomAD
CA7089514 rs758959479	1145	E>G		No	ClinGen ExAC TOPMed gnomAD
CA257547042 rs866567428	1146	Y>*		No	ClinGen TOPMed
rs1263145929 CA388857112	1146	Y>D		No	ClinGen TOPMed
CA388857140 rs144704092	1150	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7089516 rs144704092	1150	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7089520 rs770629140	1153	L>F		No	ClinGen ExAC
rs1380219519 CA388857199	1159	P>L		No	ClinGen gnomAD
CA388857198 rs1219546614	1159	P>S		No	ClinGen gnomAD
rs1355879266 CA388857223	1163	R>M		No	ClinGen gnomAD
CA257547094 rs1039554002	1165	P>S		No	ClinGen TOPMed
rs1416332398 CA388857242	1166	R>T		No	ClinGen gnomAD
CA388857248 rs1291367564	1167	A>S		No	ClinGen gnomAD
rs1291367564 CA388857246	1167	A>T		No	ClinGen gnomAD
rs1167249622 CA388857251	1167	A>V		No	ClinGen TOPMed
rs763866704 CA7089527	1168	G>V		No	ClinGen ExAC gnomAD
rs201191634 CA388857258	1169	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1172	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750539898 CA7089531	1173	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1176	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388857315 rs1420268218	1176	S>R		No	ClinGen gnomAD
CA257547120 rs1030888005	1176	S>R		No	ClinGen TOPMed gnomAD
rs1395146301 CA388857444	1180	D>N		No	ClinGen gnomAD
CA7089546 rs761547160	1182	D>N		No	ClinGen ExAC gnomAD
rs770036021 CA7089547	1182	D>V		No	ClinGen ExAC gnomAD
rs952203512 CA257548420	1184	Q>H		No	ClinGen TOPMed
rs763141463 CA7089548	1184	Q>R		No	ClinGen ExAC gnomAD
CA7089551 rs369504824	1189	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7089553 rs183313318	1190	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7089552 rs183313318	1190	R>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388857511 rs1297290227	1191	R>Q		No	ClinGen gnomAD
CA388857514 rs1566368652	1192	F>I		No	ClinGen Ensembl
CA7089557 rs757996377	1193	L>R		No	ClinGen ExAC gnomAD
CA7089560 rs746471434	1194	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7089562 rs781067701	1195	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7089561 rs781067701	1195	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1448467540 CA388857547	1197	L>M		No	ClinGen TOPMed
CA388857550 rs1423955888	1197	L>R		No	ClinGen gnomAD
rs1428905683 CA388857553	1198	N>D		No	ClinGen gnomAD
rs1172357323 CA388857556	1198	N>S		No	ClinGen gnomAD
rs1403311040 CA388857560	1199	G>R		No	ClinGen TOPMed
rs773540240 CA7089564	1201	D>A		No	ClinGen ExAC TOPMed gnomAD
CA388857611 rs1414989289	1206	H>D		No	ClinGen TOPMed
rs763079462 CA7089565	1206	H>L		No	ClinGen ExAC gnomAD
rs1287289656 CA388857952	1208	K>R		No	ClinGen gnomAD
rs61751272 RCV000086253	1210	T>missing		No	ClinVar dbSNP
rs1340317371 CA388857985	1213	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs753006380 CA257551094	1213	S>R		No	ClinGen TOPMed
CA7089582 rs777433087	1214	D>E		No	ClinGen ExAC gnomAD
CA388857998 rs1197992874	1215	P>S		No	ClinGen TOPMed
rs749051039 CA7089583 RCV000311016	1216	L>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1316957086 CA388858012	1217	D>E		No	ClinGen gnomAD
CA388858025 rs1217538255	1219	E>G		No	ClinGen TOPMed gnomAD
CA388858026 rs1217538255	1219	E>V		No	ClinGen TOPMed gnomAD
rs1239956303 COSM1368954 CA388858035	1220	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388858064 rs1348008050	1224	E>A		No	ClinGen TOPMed
CA7089585 rs774588678	1228	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1474212159 CA388858110	1231	L>F		No	ClinGen TOPMed gnomAD
rs1307605933 CA388858118	1232	Q>*		No	ClinGen TOPMed
rs1392934901 CA388858135	1234	W>*		No	ClinGen TOPMed
rs1408843177 CA388858145	1235	Q>H		No	ClinGen TOPMed gnomAD
CA388858138 rs1181177963	1235	Q>K		No	ClinGen gnomAD
CA7089588 rs776209585	1238	E>Q		No	ClinGen ExAC gnomAD
CA257551147 rs987359104	1242	D>A		No	ClinGen TOPMed
rs776882749 CA7089591	1242	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1242	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372485763 CA7089592	1244	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7089593 rs765987753	1246	Q>E		No	ClinGen ExAC gnomAD
RCV000658684 rs767010058 CA7089596	1249	D>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs762134535 CA7089612	1250	I>T		No	ClinGen ExAC gnomAD
rs1366328748 CA388858252	1251	V>I		No	ClinGen TOPMed
CA388858268 rs1168922642	1253	P>R		No	ClinGen gnomAD
rs774057081 CA7089614	1254	E>D		No	ClinGen ExAC gnomAD
CA7089615 rs759191514	1258	T>I	Cone-rod dystrophy 13 (cord13) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
CA388858298 rs759191514	1258	T>N	Cone-rod dystrophy 13 (cord13) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
rs767097826 CA7089616	1260	I>V		No	ClinGen ExAC gnomAD
CA7089618 rs763974550	1261	G>A		No	ClinGen ExAC gnomAD
TCGA novel	1262	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388858318 rs1341177210	1262	R>M		No	ClinGen gnomAD
CA257553620 rs866154508	1263	L>P		No	ClinGen TOPMed
rs866154508 CA257553623	1263	L>R		No	ClinGen TOPMed
CA388858327 rs1224049964	1264	K>E		No	ClinGen TOPMed
CA7089619 rs753788745	1264	K>R		No	ClinGen ExAC gnomAD
CA388858339 rs1566376710	1266	S>T		No	ClinGen Ensembl
rs1265355515 CA388858346	1267	L>V		No	ClinGen gnomAD
CA7089620 rs757070531	1268	Q>E		No	ClinGen ExAC gnomAD
CA7089622 rs750187066	1272	V>A		No	ClinGen ExAC gnomAD
CA7089621 rs778860397	1272	V>F		No	ClinGen ExAC TOPMed gnomAD
CA388858380 rs1205003239	1273	L>F		No	ClinGen TOPMed
CA7089623 rs758718790	1274	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1308989407 CA388858390	1274	H>Y		No	ClinGen TOPMed
CA7089624 rs546955248	1275	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA388858399 rs1223177402	1275	A>S		No	ClinGen TOPMed
CA388858410 rs1463468451	1276	I>F		No	ClinGen gnomAD
CA7089625 rs747100139	1276	I>M		No	ClinGen ExAC gnomAD
CA388858466 rs1387928055	1280	M>K		No	ClinGen gnomAD
CA388858481 rs1385915494	1281	T>N		No	ClinGen TOPMed gnomAD
CA388858517 rs1566376913	1284	L>W		No	ClinGen Ensembl
rs1566376938 CA388858530	1285	F>S		No	ClinGen Ensembl

No associated diseases with Q96KN7

No regional properties for Q96KN7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96KN7

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium	Situated between the axonemal microtubules and the plasma membrane (By similarity) In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity) Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
axoneme	The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.
ciliary transition zone	A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm.
photoreceptor connecting cilium	The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone.
photoreceptor distal connecting cilium	The distal region of the photoreceptor connecting cilium is structurally unique to the photoreceptor and is maintained by retina-specific protein, SPATA7, and its interacting partners RPGR and RPGRIP1. It is essential for photoreceptor sensory cilium stability.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
neural precursor cell proliferation	The multiplication or reproduction of neural precursor cells, resulting in the expansion of a cell population. A neural precursor cell is either a nervous system stem cell or a nervous system progenitor cell.
non-motile cilium assembly	The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium.
response to stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism.
retinal rod cell development	Development of a rod cell, one of the sensory cells in the eye that reacts to the presence of light. Rod cells contain the photopigment rhodopsin or porphyropsin and are responsible for vision in dim light.
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.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MSHLVDPTSG	DLPVRDIDAI	PLVLPASKGK	NMKTQPPLSR	MNREELEDSF	FRLREDHMLV
70	80	90	100	110	120
KELSWKQQDE	IKRLRTTLLR	LTAAGRDLRV	AEEAAPLSET	ARRGQKAGWR	QRLSMHQRPQ
130	140	150	160	170	180
MHRLQGHFHC	VGPASPRRAQ	PRVQVGHRQL	HTAGAPVPEK	PKRGPRDRLS	YTAPPSFKEH
190	200	210	220	230	240
ATNENRGEVA	SKPSELVSGS	NSIISFSSVI	SMAKPIGLCM	PNSAHIMASN	TMQVEEPPKS
250	260	270	280	290	300
PEKMWPKDEN	FEQRSSLECA	QKAAELRASI	KEKVELIRLK	KLLHERNASL	VMTKAQLTEV
310	320	330	340	350	360
QEAYETLLQK	NQGILSAAHE	ALLKQVNELR	AELKEESKKA	VSLKSQLEDV	SILQMTLKEF
370	380	390	400	410	420
QERVEDLEKE	RKLLNDNYDK	LLESMLDSSD	SSSQPHWSNE	LIAEQLQQQV	SQLQDQLDAE
430	440	450	460	470	480
LEDKRKVLLE	LSREKAQNED	LKLEVTNILQ	KHKQEVELLQ	NAATISQPPD	RQSEPATHPA
490	500	510	520	530	540
VLQENTQIEP	SEPKNQEEKK	LSQVLNELQV	SHAETTLELE	KTRDMLILQR	KINVCYQEEL
550	560	570	580	590	600
EAMMTKADND	NRDHKEKLER	LTRLLDLKNN	RIKQLEGILR	SHDLPTSEQL	KDVAYGTRPL
610	620	630	640	650	660
SLCLETLPAH	GDEDKVDISL	LHQGENLFEL	HIHQAFLTSA	ALAQAGDTQP	TTFCTYSFYD
670	680	690	700	710	720
FETHCTPLSV	GPQPLYDFTS	QYVMETDSLF	LHYLQEASAR	LDIHQAMASE	HSTLAAGWIC
730	740	750	760	770	780
FDRVLETVEK	VHGLATLIGA	GGEEFGVLEY	WMRLRFPIKP	SLQACNKRKK	AQVYLSTDVL
790	800	810	820	830	840
GGRKAQEEEF	RSESWEPQNE	LWIEITKCCG	LRSRWLGTQP	SPYAVYRFFT	FSDHDTAIIP
850	860	870	880	890	900
ASNNPYFRDQ	ARFPVLVTSD	LDHYLRREAL	SIHVFDDEDL	EPGSYLGRAR	VPLLPLAKNE
910	920	930	940	950	960
SIKGDFNLTD	PAEKPNGSIQ	VQLDWKFPYI	PPESFLKPEA	QTKGKDTKDS	SKISSEEEKA
970	980	990	1000	1010	1020
SFPSQDQMAS	PEVPIEAGQY	RSKRKPPHGG	ERKEKEHQVV	SYSRRKHGKR	IGVQGKNRME
1030	1040	1050	1060	1070	1080
YLSLNILNGN	TPEQVNYTEW	KFSETNSFIG	DGFKNQHEEE	EMTLSHSALK	QKEPLHPVND
1090	1100	1110	1120	1130	1140
KESSEQGSEV	SEAQTTDSDD	VIVPPMSQKY	PKADSEKMCI	EIVSLAFYPE	AEVMSDENIK
1150	1160	1170	1180	1190	1200
QVYVEYKFYD	LPLSETETPV	SLRKPRAGEE	IHFHFSKVID	LDPQEQQGRR	RFLFDMLNGQ
1210	1220	1230	1240	1250	1260
DPDQGHLKFT	VVSDPLDEEK	KECEEVGYAY	LQLWQILESG	RDILEQELDI	VSPEDLATPI
1270	1280
GRLKVSLQAA	AVLHAIYKEM	TEDLFS