AiPD: Autoinhibited Protein Database

P33897

Gene name	ABCD1
Protein name	ATP-binding cassette sub-family D member 1
Names	Adrenoleukodystrophy protein, ALDP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:215
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

12-93 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

12-93 (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

15 structures for P33897

Entry ID	Method	Resolution	Chain	Position	Source
7RR9	EM	350 A	A/B	1-745	PDB
7RRA	EM	440 A	A/B	1-745	PDB
7SHM	EM	314 A	A/B	2-745	PDB
7SHN	EM	310 A	A/B	2-686	PDB
7VR1	EM	340 A	A/B	1-745	PDB
7VWC	EM	353 A	A/B	65-745	PDB
7VX8	EM	280 A	A/B	65-745	PDB
7VZB	EM	359 A	A/B	65-745	PDB
7X07	EM	378 A	A/B	1-745	PDB
7X0T	EM	330 A	A/B	1-745	PDB
7X0Z	EM	296 A	A/B	1-745	PDB
7X1W	EM	330 A	A/B	1-745	PDB
7XEC	EM	334 A	A/B	1-745	PDB
7YRQ	EM	335 A	A/B	1-745	PDB
AF-P33897-F1	Predicted				AlphaFoldDB

799 variants for P33897

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000012069 rs387906497	1	M>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091702389 RCV001055844	1	M>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091702447 RCV001253262	4	L>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1557052133 RCV000633483	6	R>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000812852 rs1603231653	13	N>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs183021839 RCV002314110 RCV001528897 RCV001000486 CA10549898 VAR_013340 RCV000377597	13	N>T	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Inborn genetic diseases does not affect fatty acid beta-oxidation [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000502342 rs781900720 CA10549899 RCV000512675 RCV001239741	14	T>A	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000537259 RCV002311848 CA10549900 rs782161942 RCV001508971	14	T>R	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs782693577 RCV000707690 RCV001001198 CA10549901 RCV002317927	17	R>H	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1557052171 RCV000525103	24	L>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000761212 CA415097462 rs1569540665	27	Y>S	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001276529 CA10549907 RCV000418353 rs375019683	34	P>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1569540676 RCV000686459	49	P>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000960344 RCV002316064 rs782134465 CA10549917	61	A>T	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000990972 CA337233616 RCV001847123 rs1057114018	67	M>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs782701925 RCV000792914 CA10549921	70	V>I	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA415098394 RCV001093002 rs782701925 RCV001245742	70	V>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1569540680 RCV001592891 RCV000697885	77	W>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000812366 rs1603231784	80	R>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs868977355 RCV000633479 CA415098456	80	R>W	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs782221851 RCV001070548	85	R>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001309696 rs2091704899	85	R>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs713993050 RCV000790677 RCV000149556	85	R>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091705016 RCV003141983 RCV001052076	88	C>Y	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_009349	90	E>K	ALD [UniProt]	Yes	UniProt
RCV001241878 RCV000438496 CA10549930 RCV001266868 CA415098522 rs201979180	92	G>R	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
VAR_075284	95	A>D	ALD [UniProt]	Yes	UniProt
RCV001240692 rs2091705296	97	H>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000529139 rs1557052294 CA415098560 VAR_000024 RCV001783035	98	S>L	Adrenoleukodystrophy ALD; CALD type [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_013341	99	A>D	ALD; AMN-type [UniProt]	Yes	UniProt
RCV000802990 rs1557052298 CA415098568	100	A>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_009350	103	S>R	ALD [UniProt]	Yes	UniProt
VAR_000025	104	R>C	ALD [UniProt]	Yes	UniProt
rs1557052302 VAR_000026 CA415098597 RCV000544041 RCV001580508	104	R>H	Adrenoleukodystrophy Variant assessed as Somatic; impact. ALD; ADO-type [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_000027	105	T>I	ALD; ADO-type [UniProt]	Yes	UniProt
VAR_009351	105	T>P	ALD [UniProt]	Yes	UniProt
CA415098616 VAR_000028 RCV000722143 rs1569540688	107	L>P	Adrenoleukodystrophy ALD; ALD/AMN/ADO-types and asymptomatic [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002245946 VAR_009352 rs2091705631 RCV001290134	108	S>L	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
VAR_000029	108	S>W	ALD; CALD and AMN-types [UniProt]	Yes	UniProt
VAR_009353 CA415098650 rs1557052306	113	R>C	ALD [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
VAR_013342	113	R>P	ALD [UniProt]	Yes	UniProt
rs1603231848 CA415098658 RCV000990973	114	L>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA278414 CA415098668 VAR_000030 RCV000077963 RCV000824204 RCV002513815 rs398123110 RCV002460043	116	G>R	Adrenoleukodystrophy Inborn genetic diseases ALD; CALD-type [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs781797609 CA10549941 RCV002316853	120	R>H	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000804526 CA10549948 rs782359412	129	A>D	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000681640 RCV001720188 rs367799134 CA10549949	131	G>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1603231897 RCV000813592	136	Q>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000077964 RCV002515752 rs398123111 CA278415	136	Q>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002322079 RCV003132290 rs2091706547 RCV001223136	137	W>*	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000633478 VAR_067239 VAR_000032 rs1557052351	138	L>missing	ALD; ALD-type Adrenoleukodystrophy ALD [UniProt, ClinVar]	Yes	ClinVar UniProt dbSNP
VAR_000032 rs1557052351	138	L>del	ALD; ALD-type [UniProt]	Yes	UniProt dbSNP
VAR_067239 rs1557052351	139	L>del	ALD [UniProt]	Yes	UniProt dbSNP
CA278381 RCV000029289 COSM1117468 VAR_000033 RCV000723567 rs193922097	141	A>T	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Variant assessed as Somatic; impact. endometrium ALD [Ensembl, ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1603231911 RCV000853228 CA415098825	141	A>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_009354	143	P>S	ALD [UniProt]	Yes	UniProt
RCV000693896 CA415098845 rs1292006620	145	T>A	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA10549955 rs782720024 RCV000946132	146	F>I	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1557052362 RCV001069371	148	N>D	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs128624216 VAR_000034 RCV000012049 CA278103 RCV001268346	148	N>S	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; ADO-type [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1557052362 RCV000547607 CA415098863	148	N>Y	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_000035	149	S>N	ALD [UniProt]	Yes	UniProt
rs1569540692 CA415098886 RCV001564691 RCV000689892	151	I>T	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000700171 CA415098891 RCV001288421 rs1569540693	152	R>C	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_009355	152	R>L	ALD [UniProt]	Yes	UniProt
VAR_000037	152	R>P	ALD [UniProt]	Yes	UniProt
VAR_009356 rs1569540693 RCV001290372	152	R>S	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
rs781871257 CA10549961 RCV001514186	159	A>G	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2091707324 RCV001252970	160	L>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_009357	161	S>P	ALD [UniProt]	Yes	UniProt
rs2091707458 RCV001235837	162	F>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1569540695 RCV001784375 RCV000761213 CA415098959	163	R>C	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002338970 CA16043184 rs1057517954 RCV000414525 VAR_000038 RCV000699535	163	R>H	Adrenoleukodystrophy Variant assessed as Somatic; impact. Inborn genetic diseases ALD [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_009358	163	R>P	ALD [UniProt]	Yes	UniProt
RCV001165780 RCV001532217 CA337234052 rs781850760	165	R>C	Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs398123112 RCV000077966 RCV001800384	167	V>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA10549967 RCV000798341 RCV001575604 rs782293513	170	A>T	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM1117469 rs541171928 RCV000805426 CA10549970	172	R>H	Adrenoleukodystrophy Variant assessed as Somatic; 6.317e-05 impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD
RCV001783036 RCV000536329 rs1557052390 VAR_009359 CA415099025	174	Y>C	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000012050 VAR_000039 CA278104 rs128624217	174	Y>D	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; ALD-type [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_000040 rs1557052390 CA415099024 RCV000850177	174	Y>S	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; CALD-type [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs2091707872 RCV001253401	175	F>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000755765 CA415099034 RCV001339930 rs1569540700	175	F>Y	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001290674 rs1057516052 RCV000408645 CA10654775	177	Q>*	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2091708007 RCV001066031	177	Q>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_000041	178	Q>E	ALD; AMN-type [UniProt]	Yes	UniProt
RCV001227564 rs2091708150 RCV001815519	180	Y>C	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1557052397 RCV000551222	182	R>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1603232005 CA415099079 RCV000794625 RCV003141778	182	R>G	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_000043	182	R>P	ALD [UniProt]	Yes	UniProt
RCV002350104 RCV000633486 rs1131691916 VAR_009360 RCV000493301 COSM1117470 CA415099128	189	R>W	Adrenoleukodystrophy Variant assessed as Somatic; impact. endometrium Inborn genetic diseases ALD [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_009361	190	L>P	ALD [UniProt]	Yes	UniProt
rs2091708534 RCV001214145	193	P>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000690849 rs1569540703 CA415099188 RCV003140090	194	D>E	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_000044	194	D>H	ALD [UniProt]	Yes	UniProt
RCV001213319 rs2091708552	194	D>N	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_009362	198	T>K	ALD [UniProt]	Yes	UniProt
rs1569540704 CA415099235 RCV003141740 RCV000761214	198	T>M	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_067240	198	T>R	ALD [UniProt]	Yes	UniProt
RCV000758252 rs1569540705 CA415099241	199	E>K	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs782724538 RCV001346548	200	D>E	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091708688 RCV001342918 VAR_009363	200	D>N	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
VAR_000045	200	D>V	ALD; CALD-type [UniProt]	Yes	UniProt
RCV000710403 RCV001085515 RCV002317928 CA10549981 rs139415350	201	V>M	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001390637 rs398123113 RCV000077967 CA278418	205	A>E	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001089938 rs2091708827	206	A>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_013343	207	S>SAAS	ALD [UniProt]	Yes	UniProt
VAR_000046	211	L>P	ALD [UniProt]	Yes	UniProt
VAR_009364	213	S>C	ALD [UniProt]	Yes	UniProt
CA10549986 RCV000700507 rs782567718	213	S>Y	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
VAR_009365	214	N>D	ALD [UniProt]	Yes	UniProt
rs1603232050 RCV000806342 CA415099394	216	T>I	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_013344	217	K>E	ALD; not able to restore defective beta-oxidation in fibroblast from patients with ALD [UniProt]	Yes	UniProt
rs864309520 RCV000202647 CA278563	217	K>N	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000787041 rs1569540710 CA415099421 RCV000710404	218	P>L	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_009366	218	P>T	ALD [UniProt]	Yes	UniProt
VAR_000047 rs2091709142 RCV001219529	220	L>P	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
VAR_000048	221	D>G	ALD; CALD and AMN-types [UniProt]	Yes	UniProt
RCV001237757 rs2091709198	221	D>N	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_013345	224	V>E	ALD [UniProt]	Yes	UniProt
RCV000817236 CA415099492 rs1557052459	225	T>A	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_009367	229	L>P	ALD [UniProt]	Yes	UniProt
rs2091709505 RCV001289556	229	L>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs781932570 RCV002363284 CA10549995 RCV000873793	231	R>W	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000675190 RCV001855619 rs1557052478 RCV002360702 CA415099600	234	R>C	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs782723557 RCV000659184 RCV000792616 CA415099605	234	R>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs201455322 CA238545 RCV002313018 RCV000395710 RCV000173052	236	R>H	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Inborn genetic diseases [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000795935 rs1603232111	242	W>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA10550007 RCV000633488 RCV001251421 RCV003139959 rs782487174	247	A>T	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001263478 rs2091710358	251	V>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000681650 CA337234614 rs200849757	252	F>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
RCV000990974 CA10550010 RCV002314128 rs150151955 RCV001001199 RCV000426591	253	L>V	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA415099842 RCV000633477 RCV000493818 VAR_000049 RCV002395197 rs1131691743	254	T>M	Adrenoleukodystrophy Inborn genetic diseases ALD; AMN-type [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_000050	254	T>P	ALD; AMN-type [UniProt]	Yes	UniProt
rs1557052530 RCV000550301	257	V>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000692778 rs1569540731 CA415099897	258	L>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_000051	263	P>L	ALD; CALD, AMN and AD-types [UniProt]	Yes	UniProt
RCV001206383 rs2091710960	263	P>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000823464 rs1603232171 CA415099955	265	F>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001070251 VAR_067241 rs2091711094	266	G>E	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
CA278105 RCV001358196 RCV002415409 rs128624218 RCV000723479 VAR_000052 RCV000012051	266	G>R	Adrenoleukodystrophy (ald) Adrenoleukodystrophy X-linked spondyloepimetaphyseal dysplasia Inborn genetic diseases ALD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs2091711117 RCV001212280	269	V>M	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs781970988 RCV000433948 RCV001835799 CA10550017	270	A>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_009368	271	E>K	ALD [UniProt]	Yes	UniProt
RCV001055925 rs2091711183	272	E>G	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA415100054 rs868992338 RCV001851420 RCV000517907	273	A>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM1117476 CA10550019 rs782760033 RCV000853229 RCV003141870 VAR_013346	274	R>W	Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. endometrium ALD [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs782083931 RCV000695726 RCV000434855 RCV002411343 CA10550021 RCV000507685	275	R>W	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Inborn genetic diseases [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001043120 rs2091711370	275	R>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_000053	276	K>E	ALD; CALD-type [UniProt]	Yes	UniProt
VAR_000055	277	G>GN	ALD; ADO-type [UniProt]	Yes	UniProt
CA415100088 rs1603232195 RCV000807408 RCV002245679 VAR_000054	277	G>R	Adrenoleukodystrophy ALD; AMN-type [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001306698 rs2091711473	277	G>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_000056	277	G>W	ALD [UniProt]	Yes	UniProt
VAR_013347 CA278382 rs193922098 RCV000721083 RCV001781320 RCV000029290	280	R>C	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. History of neurodevelopmental disorder ALD [Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA dbSNP gnomAD
CA10550025 rs781904944 RCV001587256 RCV001226321	280	R>H	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs781904944 RCV001090114	280	R>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1557052555 RCV001800831 RCV000627370 CA415100145 RCV001001992	281	Y>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001041848 rs782509393	283	H>D	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV003135895 RCV001260592 rs2091711722	284	S>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs782334088 CA337234807 RCV000755767 RCV002536555	285	R>C	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP
RCV002249468 RCV002051891 RCV000850212 rs782635828 CA10550027	285	R>H	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Intellectual disability [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_009369	285	R>P	ALD [UniProt]	Yes	UniProt
rs782334088 RCV003141962 RCV001044072	285	R>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_000057	291	E>D	ALD; ACALD and CALD-types [UniProt]	Yes	UniProt
CA278100 RCV000012044 rs128624213 VAR_000058	291	E>K	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_000059	291	E>del	ALD; ALD-type [UniProt]	Yes	UniProt
rs1557052573 CA415100288 RCV000633492	292	E>D	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000012066 rs387906496 RCV000675191	292	E>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001035803 rs2091712008 RCV003141940 RCV002372745	292	E>K	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA415100298 RCV000990975 rs1603232237	293	I>T	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000686131 CA415100308 rs1131691954 RCV001420950 RCV000492856 VAR_000060	294	A>T	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; AMN-type [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001236161 rs2091712106	294	A>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA278493 rs797044610 RCV000173051 RCV002372080 RCV000724285 VAR_009370	296	Y>C	Adrenoleukodystrophy Inborn genetic diseases ALD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_009371	298	G>D	ALD [UniProt]	Yes	UniProt
RCV000824100 rs1603232243 CA415100354	298	G>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10550032 rs782430461 RCV001843369 RCV001034913	299	H>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000872653 CA10550031 rs202195978	299	H>Y	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_013348	300	E>EVGQ	ALD [UniProt]	Yes	UniProt
RCV001327376 rs2091726251	302	E>G	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_009372	302	E>K	ALD [UniProt]	Yes	UniProt
RCV001261538 rs2091726242	302	E>M	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000807056 rs1603233089 RCV003132063 CA415100572	307	Q>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs782419107 CA10550055 RCV001054987	308	R>C	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001054374 rs2091726449	313	L>Q	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA10550058 RCV001167362 rs782726660	315	S>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001053476 rs2091726463	315	S>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_075285	316	Q>P	ALD [UniProt]	Yes	UniProt
CA415100724 rs879952582 RCV001330913	319	L>F	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_009373	322	L>P	ALD [UniProt]	Yes	UniProt
RCV000799162 rs1603233113	330	L>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1557053241 RCV001250535	331	E>G	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091726671 RCV001036486	332	Q>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_009374	336	K>M	ALD [UniProt]	Yes	UniProt
RCV001873591 RCV002320386 rs2091726692	337	Y>C	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
VAR_013349 CA415101113 rs1603233120 RCV000853225	339	W>R	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA10550067 rs782492154 RCV001249461	341	A>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001198968 CA10550066 rs782492154	341	A>T	Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
VAR_000061	342	S>P	ALD; AMN-type [UniProt]	Yes	UniProt
RCV001041034 rs2091726809 VAR_013350	343	G>D	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
RCV001220804 rs2091726796	343	G>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1557053262 RCV000624230 CA415101360	361	D>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA415104498 rs1569541000 RCV000710054	366	K>*	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000793335 rs1603234451	370	L>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs368606000 RCV001522984 CA10550138	373	K>E	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001826897 rs782627940 RCV000723443	373	K>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA415104801 rs782266592 RCV000691168	376	E>*	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000814299 COSM1117477 CA10550145 rs781983308 RCV000490160	381	R>C	Adrenoleukodystrophy endometrium Variant assessed as Somatic; 6.246e-05 impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000886660 CA10550146 rs782755297	381	R>H	Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000990976 rs1603234466 CA415104989	382	T>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001063964 rs1205548762	386	T>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1603234474 RCV000821703 CA415105126	386	T>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2091749101 RCV001035623	388	A>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs128624215 CA337239849 RCV000761215	389	R>C	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs128624215 VAR_000062 RCV000012048 CA278102	389	R>G	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; AMN-type [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD
RCV000984141 VAR_000063 rs886044777 RCV000268436 CA10603846	389	R>H	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Variant assessed as Somatic; impact. ALD; does not affect protein stability, homo- and heterodimerization with ABCD2 and ABCD3 [Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV001035149 rs2091749146	391	L>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001039824 rs1557054173	391	L>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA415105323 rs1324874967 RCV000685774	394	A>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1557054176 RCV000517778 RCV000633487 CA415105336	395	A>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000761216 rs1569541006 CA415105353	396	A>T	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2091749296 RCV001225016	400	E>K	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001001636 VAR_000064 RCV001781249 rs128624219 CA278106 RCV000012052	401	R>Q	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; ALD and AMN-types; does not affect protein stability, homo- and heterodimerization with ABCD2 and ABCD3 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000578153 CA415105485 rs727503786 VAR_009375	401	R>W	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA415105674 RCV000855404 rs1603234501	407	K>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000934257 CA10550166 rs782161850	410	T>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001800863 CA415105913 rs1569541011 RCV000710398	413	A>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2091749822 RCV001339153	416	T>A	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001340427 rs2091749844	416	T>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001058584 rs1046633404 CA337239971	418	R>Q	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs128624220 CA278107 RCV000012053 VAR_000065 RCV000518515	418	R>W	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; AMN-type [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs2091749942 RCV001323120	420	H>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001279586 rs782066367 CA10550173	420	H>Q	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000613593 CA415106144 RCV001727783 rs1255903649	421	E>K	Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000532174 rs1557054210 CA415106267	424	Q>*	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_013351	427	E>del	ALD [UniProt]	Yes	UniProt
RCV000178024 RCV000763198 CA278507 rs797044726	430	Q>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs782647014 RCV001279587 CA10550184	443	A>T	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA415107044 RCV001529574 RCV000557311 rs1432758988	445	A>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002379261 RCV000395704 rs368061976 CA10550188	452	R>W	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001008779 RCV001800915 rs1603234574	454	G>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000029284 rs193922093	456	R>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA278108 RCV000012054 rs128624221 RCV001781250	464	R>*	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA278401 rs398123100 RCV000077950 RCV001063464	466	Q>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs387906494 RCV000516943 RCV000012055	472	Q>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091752744 RCV001225015	472	Q>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000779678 RCV001825520 CA415108166 rs1569541033	472	Q>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA278111 RCV000012056 rs128624222	477	E>*	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000991474 rs1557054318 RCV001800721 RCV000507704	481	I>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV002067013 CA10550222 RCV002060903 RCV002312772 rs781806403	482	V>I	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1569541035 CA415108478 RCV000800638 RCV000710399	483	T>M	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs128624214 CA278101 VAR_000066 RCV000012045	484	P>R	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; CALD, AMN and ADO-types; significantly decreases homodimerization and abolishes heterodimerization with ABCD2 and ABCD3 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000813291 CA415108564 rs1603234759	485	S>*	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001253465 rs2091753125	495	I>N	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1603235267 CA415110832 RCV000990977	501	M>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001218447 rs2091762267	503	L>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091762306 RCV001330910	506	T>I	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_000067	507	G>V	ALD; CALD-types [UniProt]	Yes	UniProt
rs1569541087 CA415111057 RCV000690556	508	P>H	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs782158792 COSM755756 RCV002395316 CA10550254 RCV000534849	509	N>S	lung Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2091762383 RCV001055117	510	G>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091762396 RCV001237662	511	C>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV003139755 rs782370364 CA415111144 RCV000549873	511	C>W	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA415111140 RCV003139960 rs1557054745 RCV000633490	511	C>Y	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001057299 rs1569541088	512	G>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
COSM206536 RCV000710055 VAR_000068 RCV000710400 rs1569541088 CA415111153	512	G>S	Adrenoleukodystrophy (ald) Adrenoleukodystrophy large_intestine Variant assessed as Somatic; impact. ALD; CALD and AS-types; reduced ATPase activity [Ensembl, ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs128624223 RCV000012057 VAR_000069 CA278113	515	S>F	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_067328	516	L>P	ALD [UniProt]	Yes	UniProt
RCV000012058 rs387906495	518	R>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA415111345 RCV000633480 rs128624224	518	R>G	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_000070 rs398123102 RCV000077955 CA278403 RCV000723540	518	R>Q	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. ALD; CALD-type [Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
rs128624224 RCV000012059 VAR_000071 RCV001358358 CA278115 RCV000723537	518	R>W	Adrenoleukodystrophy (ald) Adrenoleukodystrophy X-linked spondyloepimetaphyseal dysplasia ALD; CALD-type [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_000072	522	G>W	ALD; AD-type [UniProt]	Yes	UniProt
rs1159943880 CA415111462 VAR_067242 RCV000633481	523	L>F	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs2091762647 RCV001218702	523	L>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001236749 rs2091762670 RCV003142204	526	T>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000766078 CA10550259 rs376472029 RCV000432469	528	G>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_000073	528	G>del	ALD; CALD-type [UniProt]	Yes	UniProt
VAR_009376	529	G>S	ALD [UniProt]	Yes	UniProt
CA278375 RCV000029285 rs193922094	531	L>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA415111758 rs1569541092 RCV000696719	533	K>N	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs781862879 RCV000761217 CA10550260 RCV003141741 RCV002397532	533	K>Q	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Inborn genetic diseases [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_000074	534	P>L	ALD; CALD-type [UniProt]	Yes	UniProt
rs782440686 RCV001043116 RCV001759748	539	M>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_067243	540	F>C	ALD [UniProt]	Yes	UniProt
VAR_009377	540	F>S	ALD [UniProt]	Yes	UniProt
RCV000787038 rs1603235321 RCV001784397	543	P>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
CA415112044 VAR_009378 RCV000633485 rs1557054776 RCV000727694	543	P>L	Adrenoleukodystrophy Variant assessed as Somatic; impact. ALD [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1557054776 RCV001090088	543	P>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001038533 VAR_009379 rs2091763089	544	Q>R	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
CA415112281 RCV000822259 rs1603235394 RCV001726340	546	P>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000699602 CA415112351 rs1569541112	548	M>I	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs201054474 RCV001052508	548	M>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_009380	552	S>P	ALD [UniProt]	Yes	UniProt
rs1569541115 RCV000699233	554	R>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs201568579 RCV000516866 VAR_009381 CA278460 RCV001203306	554	R>H	Adrenoleukodystrophy Variant assessed as Somatic; impact. ALD [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV001247886 rs2091764450	556	Q>H	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_013352	556	Q>R	ALD; ACALD type [UniProt]	Yes	UniProt
rs2091764510 RCV001223848	559	Y>H	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs398123105 CA278408 RCV000077958 VAR_000075 RCV000723625 RCV002399466	560	P>L	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Variant assessed as Somatic; impact. Inborn genetic diseases ALD; CALD-type [Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_000076	560	P>R	ALD; AMN and ALMD-types [UniProt]	Yes	UniProt
VAR_013353	560	P>S	ALD [UniProt]	Yes	UniProt
RCV001060280 rs2091764526	560	P>T	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001350840 rs2091764566	561	D>N	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001218948 rs2091764595	562	S>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091764595 RCV001050528	562	S>T	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091764622 RCV001235149	565	D>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_000077	566	M>K	ALD [UniProt]	Yes	UniProt
RCV001279588 rs2091764661	569	K>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1603235421 RCV000990978	580	L>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091764754 RCV001036673	581	D>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000602068 rs76180859 CA249150 RCV000202951 RCV002311311 RCV000675195	582	V>I	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs79383557 RCV000203152 RCV000608121 CA249353 RCV002311312	583	V>E	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA415113133 rs1569541120 RCV000685857 RCV002267015	583	V>M	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Variant assessed as Somatic; impact. [Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000560921 rs1557054859	583	V>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000691696 RCV001288420 CA415113254 rs1569541122	588	I>N	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001253021 rs2091765003	590	Q>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_013354	591	R>P	ALD [UniProt]	Yes	UniProt
RCV002528315 RCV000538578 VAR_000078 RCV000675196 rs1557054873 CA415113345	591	R>Q	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Inborn genetic diseases ALD; AMN-type; significantly decreases homodimerization and abolishes heterodimerization with ABCD2 and ABCD3 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000498217 VAR_009382 rs398123106 CA278409 RCV000808514	591	R>W	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA415115616 rs1603235901 RCV000796458	595	W>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000426932 RCV001833530 CA10550317 rs782065134	597	A>G	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs398123107 RCV002513814 CA278410 RCV000077960	601	W>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000299483 RCV001355186 rs151201945 CA10550321	604	V>I	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA121420 RCV000180094 RCV000517966 VAR_000079 rs128624225 RCV000012062	606	S>L	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Primary adrenocortical insufficiency ALD; decreased ATP-binding affinity [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000202845 VAR_000080 RCV000354458 RCV001354702 rs201774661 CA249048	606	S>P	Adrenoleukodystrophy (ald) X-linked cerebral adrenoleukodystrophy Adrenoleukodystrophy Variant assessed as Somatic; 0.0002173 impact. ALD; CALD, AMN and ALMD-types [Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV000633482 rs1557055253	607	G>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV002411986 rs2091772324 RCV001307498	607	G>D	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000990979 CA249262 rs78993751 RCV000203059 RCV001358088 VAR_013355	608	G>D	Adrenoleukodystrophy ALD; CALD-type [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs2091772331 RCV001230399	608	G>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000633491 VAR_000081 rs1557055260 CA415116021	609	E>G	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA278461 VAR_000082 RCV000723952 rs150346282 RCV000152721	609	E>K	Adrenoleukodystrophy ALD; AMN-type [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD
rs146525445 RCV001838338 RCV000990980 CA10550327	614	G>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_009383	616	A>V	ALD [UniProt]	Yes	UniProt
rs4010613 RCV001093003 CA278117 VAR_000083 RCV000012065	617	R>C	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; ALD-type and asymptomatic [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV001291582 rs4010613 VAR_000084	617	R>G	ALD; ADO and AMN-types with cerebral involvement [UniProt]	Yes	ClinVar dbSNP UniProt
VAR_000085 CA278116 RCV000723904 rs11146842 RCV000012064	617	R>H	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000990981 rs1603235941	618	M>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_013356	626	A>D	ALD [UniProt]	Yes	UniProt
RCV001784336 VAR_000086 COSM4005031 rs1557055316 CA415116649 RCV000699538	626	A>T	Adrenoleukodystrophy (ald) Adrenoleukodystrophy Variant assessed as Somatic; impact. urinary_tract ALD; CALD and AMN-types [Ensembl, ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_000087	629	D>H	ALD [UniProt]	Yes	UniProt
VAR_009384	630	E>G	ALD [UniProt]	Yes	UniProt
rs2091773525 RCV001204546 VAR_009385	631	C>Y	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
RCV000853230 CA16621227 RCV000480881 VAR_013357 rs1064793877	632	T>I	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_067244	632	T>P	ALD [UniProt]	Yes	UniProt
VAR_013358	633	S>I	ALD; asymptomatic [UniProt]	Yes	UniProt
rs202125585 RCV003130204 VAR_009386 RCV001230853	633	S>R	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
CA10604122 RCV000488080 rs782041940 RCV000633484	634	A>T	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs201427153 VAR_013359 CA337242826	635	V>M	ALD [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
VAR_009387 rs2091773697 RCV001253241	636	S>I	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
CA10606398 rs886044887 RCV000279661 RCV001209093	638	D>H	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs886044887 RCV003135987 RCV001330911	638	D>N	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_009388	638	D>Y	ALD [UniProt]	Yes	UniProt
rs1603236012 RCV000824353 CA415117060	640	E>G	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_067245	640	E>K	ALD [UniProt]	Yes	UniProt
RCV001008624 rs1603236013 RCV001862753	645	Q>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_009389	646	A>P	ALD [UniProt]	Yes	UniProt
RCV001054555 rs1557055332	650	A>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV002318878 RCV001206153 RCV001772021 rs1557055333 CA415117457	650	A>V	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2091773987 RCV001225791	651	G>V	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091774003 RCV001250797	654	L>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2091774046 RCV001041737 VAR_009390	654	L>P	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
CA415117728 rs1603236020 RCV000856679	656	S>F	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_000088	657	I>del	ALD; CALD-type [UniProt]	Yes	UniProt
RCV000761218 rs1557055337 CA415117771	658	T>I	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001320062 rs2091774102	659	H>Y	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000552581 rs1557055340 CA415117805	660	R>L	Adrenoleukodystrophy (ald) Adrenoleukodystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_013360	660	R>P	ALD; CALD-type [UniProt]	Yes	UniProt
VAR_067329 CA415117801 RCV000778893 rs1557055340	660	R>Q	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs1569541203 RCV000710056 RCV001268534 CA415117798 VAR_000089	660	R>W	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; CALD, ALMD and AS-types [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs886044882 RCV002463361 RCV000307057 CA10606220	663	L>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001093621 rs2091774163	664	W>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1170974058 CA415118098 RCV000990982 RCV000541276 CA415118105	666	Y>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001051598 rs2091775035	666	Y>C	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1557055392 RCV000530996	667	H>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_009391	667	H>D	ALD [UniProt]	Yes	UniProt
RCV001048143 rs2091775068	667	H>Y	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1603236086 RCV001249460	668	T>A	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000633489 CA415118177 rs1557055398 VAR_009392	668	T>I	Adrenoleukodystrophy ALD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000850157 CA415118162 rs1603236086	668	T>P	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000173620 RCV002516594 rs797044625	669	H>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001210435 rs2091775127	669	H>R	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1569541207 RCV000761219	671	L>missing	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_067246	677	G>D	ALD [UniProt]	Yes	UniProt
rs1557055405 CA415118445 RCV000625957 VAR_000090	679	W>R	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD; AMN-type [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA10550392 rs782327280 RCV001088442 RCV000828005	681	F>L	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10550393 rs781793261 RCV000323903	682	E>Q	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10550394 RCV001247652 RCV003155179 rs782376163 RCV000435174	689	R>C	Adrenoleukodystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001330912 rs2091775448	691	S>T	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs782311214 VAR_009393 RCV001227000 CA10550397 RCV001664767	693	T>M	Adrenoleukodystrophy (ald) Adrenoleukodystrophy ALD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA10550399 rs782157913 RCV001346480	696	K>M	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10550406 RCV000811902 rs782583464	711	R>W	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1557055441 RCV000686557 RCV002422472 CA415119129	712	R>C	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000426538 rs782809184 CA10550412 RCV002524859	725	A>T	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA415119499 RCV000793854 rs1603236153	730	P>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV003128625 CA10550417 RCV000544959 rs368462762 RCV002431553	734	P>L	Adrenoleukodystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA415119629 RCV001855714 rs1290462360 RCV000762680	737	P>S	Adrenoleukodystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001062117 rs2091776291	741	Q>*	Adrenoleukodystrophy [ClinVar]	Yes	ClinVar dbSNP
rs782061571 CA10549897	5	S>C		No	ClinGen ExAC gnomAD
rs1557052136 CA415097244	7	P>H		No	ClinGen gnomAD
CA415097241 rs1557052134	7	P>S		No	ClinGen gnomAD
RCV001268905 rs1304001811	10	W>*		No	ClinVar dbSNP
CA415097283 rs1304001811	10	W>C		No	ClinGen TOPMed gnomAD
RCV000077962 rs398123109	11	R>missing		No	ClinVar dbSNP
rs1224689084 CA415097286	11	R>G		No	ClinGen TOPMed gnomAD
rs782122122 CA337233471	11	R>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA415097289 rs782122122	11	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1378887547 CA415097350	16	K>N		No	ClinGen TOPMed
CA415097357 rs1557052156	17	R>C		No	ClinGen gnomAD
rs1557052159 CA415097370	18	T>K		No	ClinGen gnomAD
rs965462099 CA337233489	19	A>S		No	ClinGen TOPMed gnomAD
rs782480731 CA10549903	20	V>E		No	ClinGen ExAC gnomAD
CA10549904 rs782611595	21	L>R		No	ClinGen ExAC gnomAD
TCGA novel	29	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10549906 rs782454198	31	K>R		No	ClinGen ExAC TOPMed gnomAD
CA415097527 rs1557052179	32	V>A		No	ClinGen gnomAD
RCV001291585 rs2091703332	35	L>missing		No	ClinVar dbSNP
rs1479670923 CA415097586	37	R>C		No	ClinGen TOPMed gnomAD
rs1257848735 CA415097587	37	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1257848735 CA415097591 RCV000585313	37	R>L		No	ClinGen ClinVar TOPMed dbSNP
CA415097614 rs1204792059	39	C>Y		No	ClinGen TOPMed
rs1557052194 CA415098224	42	P>L		No	ClinGen gnomAD
CA415098230 rs1557052196	43	A>V		No	ClinGen gnomAD
rs1323527389 CA415098244	46	L>I		No	ClinGen TOPMed
rs868911691 CA415098257	47	Q>H		No	ClinGen gnomAD
CA415098253 rs1557052202	47	Q>R		No	ClinGen gnomAD
rs781803154 CA337233527 COSM1625675	48	A>V	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs781828916 CA337233534	49	P>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs1557052213 RCV000522830 CA415098265	49	P>H		No	ClinGen ClinVar Ensembl dbSNP
rs781828916 CA415098264	49	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA415098275 rs1305796347 CA415098274	51	G>R		No	ClinGen TOPMed gnomAD
CA415098289 rs1389341208	53	P>A		No	ClinGen TOPMed gnomAD
CA10549910 rs782079729	54	T>M		No	ClinGen ExAC gnomAD
CA415098302 rs1557052224	55	Q>P		No	ClinGen gnomAD
rs1557052228 CA415098315	57	A>T		No	ClinGen gnomAD
rs781943986 CA10549914	58	S>C		No	ClinGen ExAC TOPMed gnomAD
rs781943986 CA10549913	58	S>F		No	ClinGen ExAC TOPMed gnomAD
CA415098331 rs781989555	60	V>I		No	ClinGen ExAC TOPMed gnomAD
CA10549916 rs781989555	60	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782134465 RCV001093001	61	A>P		No	ClinVar dbSNP
CA415098337 rs782134465	61	A>S		No	ClinGen ExAC TOPMed gnomAD
CA415098345 rs1557052240	62	A>V		No	ClinGen gnomAD
rs1557052244 CA415098371	66	G>D		No	ClinGen gnomAD
CA415098391 rs1557052249	69	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA415098416 rs1557052252	73	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA415098424 rs868953385	74	R>L		No	ClinGen Ensembl
RCV000483151 rs1064794778	76	L>missing		No	ClinVar dbSNP
CA415098439 rs1557052255	77	W>*		No	ClinGen gnomAD
CA10549923 rs782537874	77	W>C		No	ClinGen ExAC gnomAD
rs1557052265 CA415098461	81	L>V		No	ClinGen gnomAD
CA10549925 rs782221851	85	R>L		No	ClinGen ExAC gnomAD
CA10549924 rs782221851	85	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	85	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10549926 rs782574881	86	V>I		No	ClinGen ExAC gnomAD
rs370602067 CA337233717	89	R>L		No	ClinGen gnomAD
CA415098507 rs370602067	89	R>Q		No	ClinGen gnomAD
rs782677645 CA10549929	89	R>W		No	ClinGen ExAC TOPMed gnomAD
CA415098520 rs1557052283	91	T>M		No	ClinGen gnomAD
CA10549931 rs782394070	92	G>V		No	ClinGen ExAC gnomAD
CA415098541 rs1351783638	95	A>V		No	ClinGen TOPMed
rs1557052298 CA415098569	100	A>T		No	ClinGen gnomAD
CA415098571 rs1557052300	100	A>V		No	ClinGen gnomAD
CA10549934 rs142950300	107	L>M		No	ClinGen ESP ExAC TOPMed
CA10549936 rs782138372	109	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1322406234 CA415098654	113	R>L		No	ClinGen TOPMed
RCV001251255 rs2091705857	116	G>E		No	ClinVar dbSNP
CA415098678 rs1401231540	117	R>S		No	ClinGen TOPMed gnomAD
RCV000710402 rs781846746 CA415098686	119	A>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs781846746 CA10549938	119	A>S		No	ClinGen ExAC gnomAD
CA10549939 rs782121374	120	R>C		No	ClinGen ExAC gnomAD
CA10549940 rs782121374	120	R>G		No	ClinGen ExAC gnomAD
RCV000523898 rs1009106172 CA337233827	123	V>I		No	ClinGen ClinVar Ensembl dbSNP
CA10549942 rs782458499	124	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1557052326 CA415098715	124	R>H		No	ClinGen gnomAD
rs782661286 CA10549946	128	R>P		No	ClinGen ExAC gnomAD
CA10549947 rs782661286	128	R>Q		No	ClinGen ExAC gnomAD
rs782499252 CA10549945	128	R>W		No	ClinGen ExAC TOPMed gnomAD
CA415098752 rs1557052334	130	F>C		No	ClinGen gnomAD
rs1557052337 CA415098756	131	G>R		No	ClinGen gnomAD
TCGA novel	131	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337233866 rs74315280	132	W>*		No	ClinGen Ensembl
CA415098761 rs1241378333	132	W>R		No	ClinGen TOPMed
rs1557052345 CA415098788	136	Q>R		No	ClinGen gnomAD
CA415098827 rs1357995551	142	L>V		No	ClinGen TOPMed gnomAD
CA10549956 rs782720024	146	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782720766 CA10549957	147	V>I		No	ClinGen ExAC gnomAD
TCGA novel	150	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557052367 CA415098892	152	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10549960 rs376849712	158	L>V		No	ClinGen ESP ExAC gnomAD
CA415098934 rs1299184306	159	A>T		No	ClinGen TOPMed gnomAD
CA337233997 rs373957035	161	S>W		No	ClinGen Ensembl
rs1315933477 COSM3424601 CA415098991	168	A>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	169	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782500325 CA10549968	171	Y>H		No	ClinGen ExAC gnomAD
rs782653223 CA10549969	172	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA415099037 rs1557052391	176	S>T		No	ClinGen gnomAD
rs1557052396 CA415099060	179	T>S		No	ClinGen gnomAD
CA10549973 rs781854288	180	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1557052401 CA415099075	181	Y>F		No	ClinGen gnomAD
CA415099083 rs1383386358	182	R>L		No	ClinGen TOPMed
CA10549974 rs782425170	185	N>K		No	ClinGen ExAC gnomAD
CA415099125 rs1557052413	188	G>A		No	ClinGen gnomAD
rs782137558 CA10549976	188	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1557052417 CA415099129	189	R>Q		No	ClinGen gnomAD
CA10549977 COSM1117471 rs782723351	191	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782723351 CA415099143	191	R>G		No	ClinGen ExAC gnomAD
rs1373052080 CA415099145	191	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1373052080 CA415099147	191	R>P		No	ClinGen TOPMed gnomAD
rs1557052424 CA415099169	193	P>S		No	ClinGen gnomAD
CA10549978 rs781970658	194	D>A		No	ClinGen ExAC gnomAD
CA10549982 rs398123113	205	A>V		No	ClinGen ExAC TOPMed gnomAD
CA337234332 rs113146421	209	A>G		No	ClinGen Ensembl
TCGA novel	209	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557052438 CA415099332	210	H>P		No	ClinGen gnomAD
rs930810028 CA337234350	212	Y>C		No	ClinGen Ensembl
CA415099367 rs1557052441	214	N>T		No	ClinGen gnomAD
CA415099450 RCV000727570 rs1569540711	221	D>A		No	ClinGen ClinVar Ensembl dbSNP
rs781951552 CA10549992	222	V>M		No	ClinGen ExAC gnomAD
CA415099471 rs1557052453	223	A>P		No	ClinGen gnomAD
rs782230740 CA10549993	223	A>V		No	ClinGen ExAC gnomAD
CA10549994 rs782305445	225	T>I		No	ClinGen ExAC gnomAD
rs1557052465 CA415099516	227	Y>H		No	ClinGen gnomAD
CA415099533 rs1276141531	228	T>A		No	ClinGen TOPMed
rs1557052469 CA415099540	228	T>N		No	ClinGen gnomAD
CA10549996 rs782143050	231	R>Q		No	ClinGen ExAC gnomAD
CA10550000 rs782723557	234	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs889290843 CA337234515	236	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA415099639 rs782455195	237	G>E		No	ClinGen ExAC gnomAD
rs782455195 CA10550001	237	G>V		No	ClinGen ExAC gnomAD
rs782813363 CA10550002	238	A>T		No	ClinGen ExAC gnomAD
rs782517563 CA10550004	239	G>S		No	ClinGen ExAC gnomAD
rs1345843651 CA415099675	240	T>I		No	ClinGen TOPMed
rs1404561656 CA415099684	241	A>G		No	ClinGen TOPMed
COSM3694417 rs1557052505 CA415099728 COSM3694418	244	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs142058513 CA10550008	248	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150151955 RCV000435936 CA16608308	253	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1117474 rs782688967 CA10550011	255	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1481708549 CA415099864	256	N>T		No	ClinGen TOPMed
CA415099873 rs1557052535	257	V>M		No	ClinGen gnomAD
CA10550015 rs200191405	259	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10550014 rs781948018 COSM1181368	259	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA415099914 rs868926663	260	A>D		No	ClinGen Ensembl
rs1557052539 CA415099909	260	A>T		No	ClinGen gnomAD
CA415099931 COSM1117475 rs1204814114	262	S>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1557052544 CA415099938	264	K>Q		No	ClinGen gnomAD
rs868992338 CA415100052	273	A>E		No	ClinGen gnomAD
rs1324272283 CA415100049	273	A>S		No	ClinGen TOPMed
rs781874815 COSM457055 CA10550020	274	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA337234735 rs968415184	275	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	276	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782747420 CA10550022	278	E>K		No	ClinGen ExAC gnomAD
CA415100126 rs193922098 RCV000516318	280	R>G	Adrenoleukodystrophy (ald) [Ensembl]	No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
COSM755758 rs193922098 CA10550024	280	R>S	lung Adrenoleukodystrophy (ald) Variant assessed as Somatic; 0.0 impact. [Cosmic, Ensembl, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs782447283 CA337234782	282	M>R		No	ClinGen gnomAD
rs782509393 CA10550026	283	H>N		No	ClinGen ExAC gnomAD
CA10550028 rs782206393	287	V>L		No	ClinGen ExAC gnomAD
rs782206393 CA415100214	287	V>M		No	ClinGen ExAC gnomAD
CA415100242 rs782346129	289	N>S		No	ClinGen ExAC gnomAD
CA10550029 rs782346129	289	N>T		No	ClinGen ExAC gnomAD
rs868934170 CA415100256	290	S>*		No	ClinGen gnomAD
rs868934170 CA415100260	290	S>L		No	ClinGen gnomAD
rs797044611 CA278494 RCV000173053	296	Y>H		No	ClinGen ClinVar Ensembl dbSNP
CA415100336 rs797044610 RCV000592687	296	Y>S		No	ClinGen ClinVar Ensembl dbSNP
CA415100363 rs868911300	298	G>V		No	ClinGen Ensembl
rs782430461 CA415100372	299	H>P		No	ClinGen ExAC TOPMed gnomAD
CA415100403 rs1569540743 RCV000762679	300	E>D		No	ClinGen ClinVar Ensembl dbSNP
rs1415875906 CA415100500	301	V>L		No	ClinGen TOPMed
rs1557053214 CA415100535	304	A>T		No	ClinGen gnomAD
TCGA novel	307	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10550056 rs781978255	308	R>H		No	ClinGen ExAC TOPMed gnomAD
CA415100610 rs1179198564	310	Y>C		No	ClinGen TOPMed
CA337236471 rs941503814	311	Q>E		No	ClinGen Ensembl
rs782131008 CA10550057	312	D>E		No	ClinGen ExAC
CA415100713 rs1557053223	318	N>S		No	ClinGen gnomAD
rs782043088 CA10550060	322	L>M		No	ClinGen ExAC gnomAD
rs782700395 CA10550061	323	E>V		No	ClinGen ExAC gnomAD
CA10550062 rs148904415	324	R>H		No	ClinGen ESP ExAC
rs1231031196 CA415100811	326	W>R		No	ClinGen TOPMed
CA415100874 rs1557053234	329	M>L		No	ClinGen gnomAD
rs782512863 CA10550063	329	M>T		No	ClinGen ExAC gnomAD
CA415100939 rs1557053241	331	E>V	Adrenoleukodystrophy (ald) [Ensembl]	No	ClinGen Ensembl
rs1444393957 CA415100973	333	F>I		No	ClinGen TOPMed
rs2091726859 RCV001268675	349	V>missing		No	ClinVar dbSNP
TCGA novel	349	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	353	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415101267 rs1557053249	353	T>P		No	ClinGen gnomAD
CA415101293 rs1210189279	355	T>I		No	ClinGen TOPMed
rs1288693435 CA415101311	357	Y>H		No	ClinGen TOPMed
CA10550070 rs782673539	358	S>P		No	ClinGen ExAC TOPMed gnomAD
RCV000732042 rs1569540883	359	E>missing		No	ClinVar dbSNP
CA415101338 rs1557053259	359	E>Q		No	ClinGen gnomAD
TCGA novel	360	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201973942 CA10550135	361	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415104363 rs1557054156	361	D>G		No	ClinGen gnomAD
rs1557054157 CA415104395	362	A>T		No	ClinGen gnomAD
CA415104469 rs1557054160	365	V>E		No	ClinGen gnomAD
CA415104461 rs782518797	365	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782518797 CA10550137	365	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	366	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557054162 CA415104508	366	K>R		No	ClinGen gnomAD
rs1569541001 CA415104649	371	E>D		No	ClinGen Ensembl
rs782224496 CA10550139	373	K>N		No	ClinGen ExAC gnomAD
rs782305233 CA10550140	374	E>K		No	ClinGen ExAC gnomAD
CA10550142 rs782266592	376	E>Q	Adrenoleukodystrophy (ald) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
rs782007706 CA10550144	380	E>K		No	ClinGen ExAC gnomAD
CA10550148 rs782064550	384	A>G		No	ClinGen ExAC gnomAD
CA10550147 rs781928922	384	A>T		No	ClinGen ExAC gnomAD
rs1205548762 CA415105114	386	T>A		No	ClinGen TOPMed gnomAD
CA415105118 rs1205548762	386	T>S		No	ClinGen TOPMed gnomAD
CA415105251 rs1557054173	391	L>R		No	ClinGen gnomAD
rs782775028 CA10550152	397	D>G		No	ClinGen ExAC gnomAD
RCV000152719 rs727503786 CA278458	401	R>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1569541007 RCV000730014	402	I>missing		No	ClinVar dbSNP
TCGA novel	402	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782567454 CA10550155	404	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782373145 CA415105842	410	T>K		No	ClinGen ExAC gnomAD
CA10550167 rs782373145	410	T>M		No	ClinGen ExAC gnomAD
rs1557054205 CA415105924	413	A>G		No	ClinGen gnomAD
rs868926263 CA415105950	414	G>C		No	ClinGen Ensembl
TCGA novel	417	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376433600 CA415106093	419	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10550171 rs376433600	419	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs781894040 CA10550174	423	F>I		No	ClinGen ExAC gnomAD
rs782509040 CA10550175	425	V>I		No	ClinGen ExAC
CA415106472 rs1319287473	429	V>A		No	ClinGen TOPMed
CA10550176 rs782598285	431	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781844128 CA10550177	431	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10550178 COSM1683000 rs782444676	432	C>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA415106684 rs1557054217	435	K>R		No	ClinGen gnomAD
rs1316790507 CA415106800	438	R>K		No	ClinGen TOPMed
rs782419455 CA415106925	442	D>E		No	ClinGen ExAC gnomAD
CA415107018 rs782259482	444	Q>H		No	ClinGen ExAC gnomAD
CA415107030 rs1569541015	445	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA337240010 rs142800114	446	G>R		No	ClinGen ESP
CA415107165 rs1557054224	449	T>A		No	ClinGen gnomAD
rs1005985709 CA337240011	449	T>N		No	ClinGen Ensembl
CA337240013 rs1016396078	450	I>M		No	ClinGen TOPMed gnomAD
CA415107233 rs1345731182	450	I>T		No	ClinGen TOPMed
rs782327265 CA415107322	452	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10550189 rs782327265 COSM1235831	452	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA415107348 rs1165764034	454	G>C		No	ClinGen TOPMed
CA415107419 rs1445497301	455	V>L		No	ClinGen TOPMed
CA10550190 rs144965658	456	R>C		No	ClinGen ESP ExAC gnomAD
rs782159028 COSM755757 CA10550191	456	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782159028 CA10550192	456	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA415107446 rs782159028	456	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10550193 rs781866876	457	V>L		No	ClinGen ExAC gnomAD
rs782099428 CA10550194	463	I>F		No	ClinGen ExAC gnomAD
CA10550196 rs138902450	464	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs138902450 CA10550195	464	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10550213 rs192525493	467	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1557054309 CA415107983	468	V>M		No	ClinGen gnomAD
CA10550215 rs782794762	469	D>G		No	ClinGen ExAC
rs1557054313 CA415108056	470	V>M		No	ClinGen gnomAD
CA415108294 rs1557054315	476	C>F		No	ClinGen Ensembl
rs782118961 CA10550217	476	C>G		No	ClinGen ExAC gnomAD
CA10550219 rs141446687	476	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10550220 rs128624222	477	E>K	Adrenoleukodystrophy (ald) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
CA415108406 rs868921503	479	I>V		No	ClinGen Ensembl
rs1557054321 CA415108438	481	I>V		No	ClinGen gnomAD
rs782242003 CA10550225	486	G>R		No	ClinGen ExAC gnomAD
TCGA novel	488	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415108690 rs1569541036	489	V>A		No	ClinGen Ensembl
rs1603234766 RCV001002582	490	V>missing		No	ClinVar dbSNP
rs782596655 CA10550227	491	A>P		No	ClinGen ExAC gnomAD
CA415108784 rs1354388799	493	L>V		No	ClinGen TOPMed
CA10550228 rs782189180	496	R>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	497	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557054730 CA415110726	497	V>M		No	ClinGen gnomAD
TCGA novel	504	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415110941 RCV000518771 rs1557054740	505	I>T		No	ClinGen ClinVar Ensembl dbSNP
CA246521 RCV000179244 rs797044766	506	T>P		No	ClinGen ClinVar Ensembl dbSNP
rs2091762371 RCV001171651	509	N>K		No	ClinVar dbSNP
rs1346973062 CA415111408	520	L>M		No	ClinGen TOPMed
rs1159943880 CA415111460	523	L>I	Adrenoleukodystrophy (ald) [Ensembl]	No	ClinGen TOPMed gnomAD
rs1400631768 CA415111539	526	T>A		No	ClinGen TOPMed
RCV000077956 CA278404 rs398123103	529	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA415111643 rs1557054769	530	V>M		No	ClinGen gnomAD
CA415111753 rs1257292368	533	K>R		No	ClinGen TOPMed
CA415111784 rs1185254243	535	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782514164 CA10550261	537	Q>H		No	ClinGen ExAC gnomAD
CA10550262 rs782611445	538	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10550263 rs781838947	538	R>H		No	ClinGen ExAC TOPMed gnomAD
rs927479436 CA337241627	539	M>I		No	ClinGen TOPMed gnomAD
CA10550264 rs782440686 CA415111908	539	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1569541093 RCV000755766	541	Y>missing		No	ClinVar dbSNP
rs1569541094 CA415111975	541	Y>H		No	ClinGen Ensembl
CA415112081 rs1557054780	545	R>K		No	ClinGen gnomAD
rs201054474 CA337241861	548	M>L		No	ClinGen Ensembl
rs199845084 CA337241866	550	V>M		No	ClinGen Ensembl
RCV000506858 rs1557054849 CA415112471	553	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA10550291 rs398123104	554	R>C		No	ClinGen ExAC gnomAD
CA278406 RCV000077957 rs398123104	554	R>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001268292 rs2091764439	556	Q>L		No	ClinVar dbSNP
rs1603235406 RCV001008780	557	V>missing		No	ClinVar dbSNP
RCV001268921 rs2091764492	557	V>G		No	ClinVar dbSNP
CA337241890 rs147560549	557	V>M		No	ClinGen ESP TOPMed
rs1557054852 CA415112785	565	D>G		No	ClinGen gnomAD
rs201114595 RCV001169925 CA10550293	567	Q>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA10550294 rs201878013	567	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	570	G>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10550295 rs781924420	572	S>L		No	ClinGen ExAC gnomAD
TCGA novel	575	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415113036 rs782066850	578	A>P		No	ClinGen ExAC TOPMed gnomAD
rs782066850 CA10550296	578	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	578	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs76180859 CA10550299	582	V>F		No	ClinGen ExAC TOPMed gnomAD
rs79383557 CA10550300	583	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415113151 rs1557054869	584	H>Y		No	ClinGen gnomAD
rs1557054871 CA415113198	586	H>R		No	ClinGen gnomAD
CA415113193 rs1318112221	586	H>Y		No	ClinGen TOPMed
CA10550301 rs782687965	590	Q>L		No	ClinGen ExAC gnomAD
CA415115659 rs782065134	597	A>D		No	ClinGen ExAC TOPMed gnomAD
CA415115649 rs1557055234	597	A>T		No	ClinGen gnomAD
CA10550319 rs371377280	598	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA415115679 rs1484041616	598	M>T		No	ClinGen TOPMed
rs781856973 RCV000180097 CA247488	598	M>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs782723156 CA10550320	600	D>A		No	ClinGen ExAC gnomAD
CA10550323 rs201774661	606	S>T	Adrenoleukodystrophy (ald) [Ensembl]	No	ClinGen ExAC gnomAD
CA415115935 rs1557055254	607	G>C		No	ClinGen gnomAD
TCGA novel	607	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557055262 CA415116110	611	Q>H		No	ClinGen gnomAD
RCV000710401 CA415116102 rs1569541194	611	Q>R		No	ClinGen ClinVar Ensembl dbSNP
rs1557055263 CA415116152	613	I>V		No	ClinGen gnomAD
CA415116183 rs1557055269	614	G>D		No	ClinGen gnomAD
CA10550328 rs782325478	616	A>D		No	ClinGen ExAC gnomAD
CA415116244 rs4010613	617	R>S	Adrenoleukodystrophy (ald) [Ensembl]	No	ClinGen gnomAD
rs782652612 CA337242648	618	M>I		No	ClinGen 1000Genomes
CA415116357 rs1557055274	620	Y>H		No	ClinGen gnomAD
rs782117181 CA10550330	622	R>K		No	ClinGen ExAC gnomAD
CA415116553 rs201197921	622	R>S		No	ClinGen gnomAD
rs781927165 CA10550351	624	K>E		No	ClinGen ExAC TOPMed gnomAD
CA415116681 rs1303295651	627	L>F		No	ClinGen TOPMed
CA10550354 rs782041940	634	A>S		No	ClinGen ExAC gnomAD
CA337242814 rs200347377	634	A>V		No	ClinGen gnomAD
CA247934 rs797044791 RCV000180455	635	V>A		No	ClinGen ClinVar Ensembl dbSNP
rs782772846 CA10550356	637	I>V		No	ClinGen ExAC gnomAD
rs782706738 CA10550359	639	V>M		No	ClinGen ExAC gnomAD
rs200460000 CA337242842	641	G>V		No	ClinGen gnomAD
rs1417326617 CA415117129	642	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	644	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258368672 COSM3406107 CA415117297	646	A>V	Variant assessed as Somatic; 7.033e-05 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1557055332 COSM1466589 CA415117445	650	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA247932 rs797044790 RCV000180454	652	I>N		No	ClinGen ClinVar Ensembl dbSNP
rs1330275057 CA415117817	661	P>L		No	ClinGen TOPMed
rs1557055388 CA415118022	664	W>*		No	ClinGen gnomAD
CA337243025 rs372523799	665	K>E		No	ClinGen Ensembl
CA415118048 rs1557055390	665	K>T		No	ClinGen gnomAD
RCV000996043 rs797044625	670	L>missing		No	ClinVar dbSNP
CA10550386 rs76637913	673	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782252768 CA10550387	674	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs75125350 CA10550390	678	G>D		No	ClinGen ExAC gnomAD
rs782608984 CA10550389	678	G>S		No	ClinGen ExAC TOPMed gnomAD
RCV000521436 rs1557055406 CA415118457	679	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs1557055410 CA415118549	684	L>M		No	ClinGen gnomAD
TCGA novel	685	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10550395 rs781952886	689	R>H		No	ClinGen ExAC gnomAD
CA10550396 rs782104487	691	S>R		No	ClinGen ExAC gnomAD
CA415118740 rs1268176383	694	E>K		No	ClinGen TOPMed
rs782810951 CA10550400	697	Q>K		No	ClinGen ExAC gnomAD
rs781860788 CA10550401	697	Q>R		No	ClinGen ExAC gnomAD
rs1557055423 CA415118838	698	R>Q		No	ClinGen gnomAD
rs1302166753 CA415118907	701	Q>H		No	ClinGen TOPMed gnomAD
CA415118920 rs1404588251	702	Q>*		No	ClinGen TOPMed
CA10550403 rs782740513	704	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	705	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415118972 rs1430925384	705	G>S		No	ClinGen TOPMed
rs1396339473 CA415119051	708	K>R		No	ClinGen TOPMed gnomAD
CA10550405 rs782432618	709	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1479171194 CA415119088	710	Q>*		No	ClinGen TOPMed
rs781886493 CA10550407	711	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA415119135 rs1557055447	712	R>H		No	ClinGen gnomAD
rs1557055452 CA415119156	713	L>P		No	ClinGen gnomAD
CA415119186 rs1557055455	715	E>K		No	ClinGen gnomAD
CA415119314 rs1557055458	720	L>P		No	ClinGen gnomAD
rs782623955 CA10550409	720	L>V		No	ClinGen ExAC gnomAD
TCGA novel	722	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557055460 CA415119335	722	E>K		No	ClinGen gnomAD
CA415119379 rs782212963	724	V>L		No	ClinGen ExAC TOPMed gnomAD
RCV000500662 CA10550410 rs782212963	724	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	726	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10550413 rs782200064	727	A>E		No	ClinGen ExAC TOPMed gnomAD
rs782200064 CA415119442	727	A>G		No	ClinGen ExAC TOPMed gnomAD
CA415119429 rs1253307888	727	A>T		No	ClinGen TOPMed
CA415119445 rs782200064	727	A>V		No	ClinGen ExAC TOPMed gnomAD
CA415119480 rs1557055468	729	V>M		No	ClinGen gnomAD
rs375489051 CA10550415	730	P>L		No	ClinGen ExAC TOPMed gnomAD
rs375489051 CA415119504	730	P>R		No	ClinGen ExAC TOPMed gnomAD
CA415119533 rs1557055476	732	P>S		No	ClinGen gnomAD
TCGA novel	734	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415119573 rs368462762	734	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1410442621 CA415119644	738	G>R		No	ClinGen TOPMed gnomAD
rs1327382457 CA415119696	740	L>H		No	ClinGen TOPMed
CA415119713 rs782682112	741	Q>P		No	ClinGen ExAC gnomAD
CA10550419 rs782682112	741	Q>R		No	ClinGen ExAC gnomAD
CA10550420 rs781803543	742	G>V		No	ClinGen ExAC gnomAD
rs1603236168 CA415119751	743	A>D		No	ClinGen Ensembl
rs782148920 CA10550421	745	T>P		No	ClinGen ExAC gnomAD
CA10550423 rs781851566	746	T>L		No	ClinGen ExAC gnomAD
RCV000173622 rs781851566 CA239083	746	T>S		No	ClinGen ClinVar ExAC dbSNP gnomAD

2 associated diseases with P33897

[MIM: 300100]: Adrenoleukodystrophy (ALD)

A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like

Without disease ID

A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like

4 regional properties for P33897

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	440 - 659	IPR003439
domain	AAA+ ATPase domain	465 - 640	IPR003593
domain	ABC transporter type 1, transmembrane domain	70 - 338	IPR011527
conserved_site	ABC transporter-like, conserved site	571 - 585	IPR017871

Functions

		Description
EC Number
Subcellular Localization	Peroxisome membrane ; Multi-pass membrane protein Mitochondrion membrane ; Multi-pass membrane protein Lysosome membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of peroxisomal membrane	The component of the peroxisomal membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrial membrane	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
peroxisomal membrane	The lipid bilayer surrounding a peroxisome.
peroxisome	A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.

11 GO annotations of molecular function

Name	Definition
ABC-type fatty-acyl-CoA transporter activity	Catalysis of the reaction ATP + H(2)O + fatty acyl CoA(Side 1) <=> ADP + phosphate + fatty acyl CoA(Side 2). A fatty acyl CoA group is any acyl group derived from a fatty acid with a coenzyme A group attached to it.
acyl-CoA hydrolase activity	Catalysis of the reaction: acyl-CoA + H2O = CoA + a carboxylate.
ADP binding	Binding to ADP, adenosine 5'-diphosphate.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
identical protein binding	Binding to an identical protein or proteins.
long-chain fatty acid transporter activity	Enables the transfer of long-chain fatty acids from one side of a membrane to the other. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

23 GO annotations of biological process

Name	Definition
alpha-linolenic acid metabolic process	The chemical reactions and pathways involving alpha-linolenic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2.
fatty acid beta-oxidation	A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively).
fatty acid elongation	The elongation of a fatty acid chain by the sequential addition of two-carbon units.
fatty acid homeostasis	Any process involved in the maintenance of an internal steady state of fatty acid within an organism or cell.
linoleic acid metabolic process	The chemical reactions and pathways involving linoleic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2.
long-chain fatty acid catabolic process	The chemical reactions and pathways resulting in the breakdown of long-chain fatty acids, a fatty acid with a chain length between C13 and C22.
long-chain fatty acid import into peroxisome	The directed movement of long-chain fatty acids into a peroxisome. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
myelin maintenance	The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath.
negative regulation of cytokine production involved in inflammatory response	Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.
negative regulation of reactive oxygen species biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species biosynthetic process.
neuron projection maintenance	The organization process that preserves a neuron projection in a stable functional or structural state. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
peroxisomal membrane transport	The directed movement of substances to, from or across the peroxisomal membrane.
peroxisome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules.
positive regulation of fatty acid beta-oxidation	Any process that activates or increases the frequency, rate or extent of fatty acid beta-oxidation.
positive regulation of unsaturated fatty acid biosynthetic process	Any process that activates or increases the frequency, rate or extent of unsaturated fatty acid biosynthetic process.
regulation of cellular response to oxidative stress	Any process that modulates the frequency, rate or extent of cellular response to oxidative stress.
regulation of fatty acid beta-oxidation	Any process that modulates the frequency, rate or extent of fatty acid bbeta-oxidation.
regulation of mitochondrial depolarization	Any process that modulates the frequency, rate or extent of the change in the membrane potential of the mitochondria from negative to positive.
regulation of oxidative phosphorylation	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis.
sterol homeostasis	Any process involved in the maintenance of an internal steady state of sterol within an organism or cell.
very long-chain fatty acid catabolic process	The chemical reactions and pathways resulting in the breakdown of a fatty acid which has a chain length greater than C22.
very long-chain fatty acid metabolic process	The chemical reactions and pathways involving a fatty acid which has a chain length greater than C22.
very long-chain fatty-acyl-CoA catabolic process	The chemical reactions and pathways resulting in the breakdown of very long-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a medium-chain fatty-acyl group. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P34230	PXA2	Peroxisomal long-chain fatty acid import protein 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P31826	yddA	Inner membrane ABC transporter ATP-binding protein YddA	Escherichia coli (strain K12)	PR
Q9UBJ2	ABCD2	ATP-binding cassette sub-family D member 2	Homo sapiens (Human)	PR
O14678	ABCD4	Lysosomal cobalamin transporter ABCD4	Homo sapiens (Human)	PR
P28288	ABCD3	ATP-binding cassette sub-family D member 3	Homo sapiens (Human)	PR
Q61285	Abcd2	ATP-binding cassette sub-family D member 2	Mus musculus (Mouse)	PR
P48410	Abcd1	ATP-binding cassette sub-family D member 1	Mus musculus (Mouse)	PR
O89016	Abcd4	Lysosomal cobalamin transporter ABCD4	Mus musculus (Mouse)	PR
P55096	Abcd3	ATP-binding cassette sub-family D member 3	Mus musculus (Mouse)	PR
Q9QY44	Abcd2	ATP-binding cassette sub-family D member 2	Rattus norvegicus (Rat)	PR
P16970	Abcd3	ATP-binding cassette sub-family D member 3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MPVLSRPRPW	RGNTLKRTAV	LLALAAYGAH	KVYPLVRQCL	APARGLQAPA	GEPTQEASGV
70	80	90	100	110	120
AAAKAGMNRV	FLQRLLWLLR	LLFPRVLCRE	TGLLALHSAA	LVSRTFLSVY	VARLDGRLAR
130	140	150	160	170	180
CIVRKDPRAF	GWQLLQWLLI	ALPATFVNSA	IRYLEGQLAL	SFRSRLVAHA	YRLYFSQQTY
190	200	210	220	230	240
YRVSNMDGRL	RNPDQSLTED	VVAFAASVAH	LYSNLTKPLL	DVAVTSYTLL	RAARSRGAGT
250	260	270	280	290	300
AWPSAIAGLV	VFLTANVLRA	FSPKFGELVA	EEARRKGELR	YMHSRVVANS	EEIAFYGGHE
310	320	330	340	350	360
VELALLQRSY	QDLASQINLI	LLERLWYVML	EQFLMKYVWS	ASGLLMVAVP	IITATGYSES
370	380	390	400	410	420
DAEAVKKAAL	EKKEEELVSE	RTEAFTIARN	LLTAAADAIE	RIMSSYKEVT	ELAGYTARVH
430	440	450	460	470	480
EMFQVFEDVQ	RCHFKRPREL	EDAQAGSGTI	GRSGVRVEGP	LKIRGQVVDV	EQGIICENIP
490	500	510	520	530	540
IVTPSGEVVV	ASLNIRVEEG	MHLLITGPNG	CGKSSLFRIL	GGLWPTYGGV	LYKPPPQRMF
550	560	570	580	590	600
YIPQRPYMSV	GSLRDQVIYP	DSVEDMQRKG	YSEQDLEAIL	DVVHLHHILQ	REGGWEAMCD
610	620	630	640	650	660
WKDVLSGGEK	QRIGMARMFY	HRPKYALLDE	CTSAVSIDVE	GKIFQAAKDA	GIALLSITHR
670	680	690	700	710	720
PSLWKYHTHL	LQFDGEGGWK	FEKLDSAARL	SLTEEKQRLE	QQLAGIPKMQ	RRLQELCQIL
730	740
GEAVAPAHVP	APSPQGPGGL	QGAST