AiPD: Autoinhibited Protein Database

Q04637

Gene name	EIF4G1 (EIF4F, EIF4G, EIF4GI)
Protein name	Eukaryotic translation initiation factor 4 gamma 1
Names	eIF-4-gamma 1, eIF-4G 1, eIF-4G1, p220
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1981
EC number
Protein Class	EUKARYOTIC TRANSLATION INITIATION FACTOR 4 GAMMA (PTHR23253)

Descriptions

EIF4G is a probable component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. The eIF4E-binding site in eukaryotic initiation factor 4G (eIF4G) functions as an autoinhibitory domain to modulate its ability to stimulate eIF4A helicase activity. Binding of eIF4E counteracts this autoinhibition, enabling eIF4G to stimulate eIF4A helicase activity.

Autoinhibitory domains (AIDs)

Target domain	682-1085 (eIF4A-binding domain)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

607-618 (eIF4E-binding domain)

Target domain

682-1085 (eIF4A-binding domain)

Relief mechanism

Partner binding (eIF4E binding to eIF4E-binding domain

Assay

Deletion assay

Accessory elements

No accessory elements

References

Feoktistova K et al. (2013) "Human eIF4E promotes mRNA restructuring by stimulating eIF4A helicase activity", Proceedings of the National Academy of Sciences of the United States of America, 110, 13339-44

Autoinhibited structure

Activated structure

15 structures for Q04637

Entry ID	Method	Resolution	Chain	Position	Source
1LJ2	X-ray	238 A	C/D	172-199	PDB
1UG3	X-ray	224 A	A/B	1233-1571	PDB
2W97	X-ray	229 A	E/F	609-622	PDB
4AZA	X-ray	216 A	B/D	609-620	PDB
4F02	X-ray	200 A	C/F	178-203	PDB
5EHC	X-ray	240 A	B	609-622	PDB
5EI3	X-ray	171 A	B	609-622	PDB
5EIR	X-ray	269 A	B	609-622	PDB
5T46	X-ray	153 A	B/D	592-653	PDB
5ZK5	X-ray	225 A	B	609-623	PDB
6ZMW	EM	370 A	g	290-1599	PDB
8HUJ	EM	376 A	B	746-992	PDB
8J7R	EM	370 A	B	746-992	PDB
8OZ0	EM	350 A	2	197-1599	PDB
AF-Q04637-F1	Predicted				AlphaFoldDB

1114 variants for Q04637

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000611515 RCV001579343 VAR_063040 CA2732142 RCV001719156 rs2178403	432	M>V	Parkinson disease 18, autosomal dominant, susceptibility to [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_066573 CA128911 RCV000022976 rs111290936	502	A>V	Parkinson disease 18, autosomal dominant, susceptibility to Parkinson disease 18 (park18) PARK18 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_066579 RCV000022975 CA128909 rs112176450	1205	R>H	Parkinson disease 18, autosomal dominant, susceptibility to Parkinson disease 18 (park18) PARK18 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs550525876 CA2732935 RCV001331994	1275	L>H	Parkinson disease 18, autosomal dominant, susceptibility to [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA355450357 rs1577177300	3	K>R		No	ClinGen Ensembl
CA2731770 rs776559897	4	A>V		No	ClinGen ExAC gnomAD
CA355450394 rs918396031	5	P>A		No	ClinGen TOPMed gnomAD
CA88896196 rs918396031	5	P>S		No	ClinGen TOPMed gnomAD
CA88896203 rs929800815	7	S>A		No	ClinGen TOPMed gnomAD
rs1178152647 CA355450465	8	T>I		No	ClinGen TOPMed gnomAD
CA355450470 rs1178152647	8	T>K		No	ClinGen TOPMed gnomAD
rs1173725623 CA355450484	9	G>A		No	ClinGen gnomAD
rs1173725623 CA355450481	9	G>D		No	ClinGen gnomAD
rs1050989881 CA88896206	9	G>S		No	ClinGen TOPMed
CA355450515 rs769596140	11	P>L		No	ClinGen ExAC gnomAD
rs769596140 CA2731772	11	P>Q		No	ClinGen ExAC gnomAD
CA355450508 rs1300223766	11	P>S		No	ClinGen TOPMed
CA355450523 rs1345385858	12	P>L		No	ClinGen gnomAD
CA88896231 rs941992671	12	P>S		No	ClinGen TOPMed gnomAD
CA355450526 rs773151314	13	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2731773 rs773151314	13	A>T		No	ClinGen ExAC TOPMed gnomAD
CA355450529 rs1370998160	13	A>V		No	ClinGen gnomAD
CA2731775 rs767579026	15	S>F		No	ClinGen ExAC gnomAD
rs759151568 CA2731774	15	S>P		No	ClinGen ExAC TOPMed gnomAD
CA355450569 rs1351536363	17	G>R		No	ClinGen gnomAD
rs1204806856 CA355450590	19	P>A		No	ClinGen TOPMed gnomAD
rs1285263159 CA355450599	19	P>L		No	ClinGen gnomAD
rs1560205186 CA355450609	20	Q>L		No	ClinGen Ensembl
CA2731786 rs746581193	21	P>T		No	ClinGen ExAC gnomAD
CA88896467 rs986322729	22	A>P		No	ClinGen TOPMed
rs754645402 CA2731787	22	A>V		No	ClinGen ExAC gnomAD
rs371145677 CA88896485	24	P>L		No	ClinGen ESP TOPMed
rs370972530 CA2731788	24	P>S		No	ClinGen ExAC TOPMed gnomAD
rs951236345 CA88896492	25	P>Q		No	ClinGen TOPMed gnomAD
CA355450719 rs951236345	25	P>R		No	ClinGen TOPMed gnomAD
CA355450724 rs1398077089	26	G>R		No	ClinGen TOPMed
rs1339690743 CA355450738	26	G>V		No	ClinGen TOPMed
CA2731791 rs747823495	28	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2731790 rs747823495	28	T>R		No	ClinGen ExAC TOPMed gnomAD
CA88896519 rs113049287	29	A>V		No	ClinGen Ensembl
rs912461425 CA88896520	30	P>Q		No	ClinGen TOPMed
rs1391313939 CA355450833	32	V>A		No	ClinGen gnomAD
CA2731795 rs775516875	33	F>L		No	ClinGen ExAC gnomAD
CA88896525 rs909294473	33	F>V		No	ClinGen TOPMed
rs963491296 CA88896559	34	S>C		No	ClinGen TOPMed
CA355450855 rs963491296	34	S>G		No	ClinGen TOPMed
CA88896561 rs972183948	34	S>I		No	ClinGen TOPMed
rs972183948 CA88896560	34	S>T		No	ClinGen TOPMed
CA355450875 rs1191508759	35	T>K		No	ClinGen TOPMed
rs764186000 CA2731797	36	P>S		No	ClinGen ExAC gnomAD
rs764186000 CA355450881	36	P>T		No	ClinGen ExAC gnomAD
CA355450911 rs1201901313	38	A>S		No	ClinGen gnomAD
rs1335703603 CA355450923	38	A>V		No	ClinGen gnomAD
rs761948659 CA2731799	39	T>I		No	ClinGen ExAC gnomAD
rs919214233 CA88896587	43	T>M		No	ClinGen Ensembl
rs750807918 CA2731801	44	P>S		No	ClinGen ExAC gnomAD
rs758935261 CA2731802	45	S>F		No	ClinGen ExAC
CA2731803 rs767029107	47	P>H		No	ClinGen ExAC gnomAD
CA88896649 rs1041482212	48	R>C		No	ClinGen TOPMed
CA355451114 rs1439002032	48	R>L		No	ClinGen gnomAD
CA355451405 rs1577184255	52	Y>S		No	ClinGen Ensembl
CA355451422 rs1288222974	53	P>L		No	ClinGen gnomAD
CA355451415 rs1254229753	53	P>S		No	ClinGen gnomAD
CA355451445 rs1319503583	55	R>W		No	ClinGen TOPMed
rs367958841 CA2731839	56	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA355451463 rs367958841	56	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2731841 rs768180364	57	Q>R		No	ClinGen ExAC gnomAD
rs1415918083 CA355451492	58	P>L		No	ClinGen gnomAD
rs752230225 CA2731842	58	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2731843 rs571849011	59	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763694816 CA2731844	60	S>G		No	ClinGen ExAC TOPMed
rs753368220 CA2731845	61	S>R		No	ClinGen ExAC
CA355451548 rs1307336054	62	A>G		No	ClinGen TOPMed
CA88897465 rs913697864	63	A>T		No	ClinGen TOPMed gnomAD
CA355451561 rs1438444420	63	A>V		No	ClinGen gnomAD
rs1217715826 CA355451579	65	R>G		No	ClinGen gnomAD
CA355451584 rs1560207175	65	R>Q		No	ClinGen Ensembl
rs778662872 CA2731847	67	Q>P		No	ClinGen ExAC gnomAD
CA355451621 rs1336775815	68	S>G		No	ClinGen TOPMed
CA355451636 rs1289874954	69	A>T		No	ClinGen gnomAD
rs758297253 CA2731849	71	P>L		No	ClinGen ExAC gnomAD
VAR_066571 CA2731848 rs113810947	71	P>S		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA2731850 rs779901470	73	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1560207215 CA355451707	74	P>L		No	ClinGen Ensembl
CA2731851 rs201980563	74	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2731852 rs769721458	75	G>R		No	ClinGen ExAC TOPMed gnomAD
CA355451750 rs1577184554	78	A>P		No	ClinGen Ensembl
CA355451760 rs1480976208	78	A>V		No	ClinGen gnomAD
rs777911643 CA2731853	80	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2731854 rs749410907	83	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2731855 rs771346623	85	S>P		No	ClinGen ExAC
rs1237501488 CA355451893	87	V>E		No	ClinGen TOPMed
rs763590431 CA2731856	90	I>V		No	ClinGen ExAC TOPMed gnomAD
rs760027319 CA2731857	91	P>A		No	ClinGen ExAC gnomAD
rs367604626 CA2731858	94	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1577184672 CA355452107	96	Y>S		No	ClinGen Ensembl
rs1168188290 CA355452136	98	A>T		No	ClinGen gnomAD
rs376639161 CA2731859	100	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1268668295 CA355452265	102	A>G		No	ClinGen gnomAD
rs761253185 CA2731860	102	A>T		No	ClinGen ExAC gnomAD
CA88897536 rs191887601	103	Y>C		No	ClinGen 1000Genomes
rs1355583293 CA355452357	106	P>S		No	ClinGen TOPMed
CA355452518 rs1390943793	110	R>C		No	ClinGen gnomAD
rs1301375216 CA355452526	110	R>H		No	ClinGen gnomAD
CA355452556 rs1276300654	112	T>A		No	ClinGen TOPMed
rs1235078814 CA355452639	115	V>L		No	ClinGen gnomAD
rs1362171480 CA355452729	118	Q>P		No	ClinGen gnomAD
CA88897733 rs994503850	121	P>S		No	ClinGen TOPMed gnomAD
rs775940503 CA355452865	122	V>L		No	ClinGen ExAC gnomAD
rs775940503 CA2731882	122	V>M		No	ClinGen ExAC gnomAD
CA355452884 rs1560207622	123	Q>E		No	ClinGen Ensembl
rs1241233318 CA355452897	123	Q>R		No	ClinGen gnomAD
CA88897753 rs866648432	129	F>S		No	ClinGen Ensembl
rs769269958 CA2731884	131	P>T		No	ClinGen ExAC gnomAD
CA355453129 rs1169616413	132	G>D		No	ClinGen TOPMed
rs1247378143 CA355453154	133	A>V		No	ClinGen gnomAD
CA355453173 rs1433608051	135	P>A		No	ClinGen TOPMed
CA355453265 rs1173704577	138	F>Y		No	ClinGen gnomAD
rs1021306052 CA88897755	140	T>S		No	ClinGen Ensembl
rs774329173 CA2731913	144	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2731914 rs760704496	145	Y>C		No	ClinGen ExAC gnomAD
rs750601754 CA2731916	148	A>P		No	ClinGen ExAC gnomAD
rs111226425 CA88898972	149	Q>H		No	ClinGen Ensembl
CA355454226 rs1372651201	150	G>E		No	ClinGen gnomAD
rs1329606479 CA355454224	150	G>R		No	ClinGen gnomAD
rs369746567 CA2731917	151	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1577196707 CA355454255	152	Q>H		No	ClinGen Ensembl
rs1577196719 CA355454259	153	Q>P		No	ClinGen Ensembl
rs1245211546 CA355454272	155	P>T		No	ClinGen gnomAD
rs1348379938 CA355454290	158	V>M		No	ClinGen gnomAD
rs1274642565 CA355454305	159	A>D		No	ClinGen gnomAD
rs1194803734 CA355454299	159	A>S		No	ClinGen gnomAD
CA2731921 VAR_061147 rs13319149	161	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs13319149 CA355454319	161	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs13319149 CA2731922	161	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770343374 CA355454372	164	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1371907848 CA355454391	165	M>I		No	ClinGen TOPMed gnomAD
rs1371907848 CA355454396	165	M>I		No	ClinGen TOPMed gnomAD
rs1475370778 CA355454408	166	N>T		No	ClinGen gnomAD
rs1372432903 CA355454456	169	P>H		No	ClinGen gnomAD
CA2731924 rs777260160	169	P>S		No	ClinGen ExAC gnomAD
rs748879194 CA2731925	170	Q>R		No	ClinGen ExAC gnomAD
rs770370351 CA2731926	171	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1312546195 CA355454490	171	I>S		No	ClinGen gnomAD
CA355454508 rs1396452515	172	A>V		No	ClinGen gnomAD
CA355454515 rs1335935844	173	P>S		No	ClinGen gnomAD
rs759115832 CA2731928	174	K>R		No	ClinGen ExAC TOPMed gnomAD
CA355454560 rs1297719461	176	E>K		No	ClinGen gnomAD
CA355454580 rs1560210274	177	R>C		No	ClinGen Ensembl
CA355454585 rs1343623638	177	R>H		No	ClinGen gnomAD
rs1231396787 CA355454599	178	K>R		No	ClinGen gnomAD
rs909440613 CA355454610	179	T>A		No	ClinGen TOPMed gnomAD
CA88899018 rs981309467	179	T>M		No	ClinGen TOPMed gnomAD
CA88899017 rs909440613	179	T>P		No	ClinGen TOPMed gnomAD
rs981309467 CA355454616	179	T>R		No	ClinGen TOPMed gnomAD
CA355383823 rs1442890649	192	I>V		No	ClinGen TOPMed
rs1384633367 CA355383935	197	M>I		No	ClinGen TOPMed
rs759750036 CA2731954	198	S>Y		No	ClinGen ExAC
rs1333358517 CA355383993	200	A>V		No	ClinGen gnomAD
CA355383999 rs1246719099	201	R>C		No	ClinGen TOPMed
rs34838305 CA2731957 VAR_079031	201	R>H	found in a patient with Rett syndrome-like phenotype; unknown pathological significance [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34838305 CA2731958	201	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200414242 CA88862452	202	T>A		No	ClinGen 1000Genomes
rs754315087 CA2731959	202	T>I		No	ClinGen ExAC TOPMed gnomAD
rs369006150 CA2731960	203	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA88862457 rs200013849	207	T>I		No	ClinGen 1000Genomes
CA355384145 rs745414522	209	P>S		No	ClinGen ExAC gnomAD
rs745414522 CA2731962	209	P>T		No	ClinGen ExAC gnomAD
CA2731994 rs762038648	211	T>M		No	ClinGen ExAC TOPMed gnomAD
CA355384305 rs762038648	211	T>R		No	ClinGen ExAC TOPMed gnomAD
rs763565190 CA2731997	214	G>S		No	ClinGen ExAC gnomAD
CA2731998 rs765972048	215	L>P		No	ClinGen ExAC gnomAD
rs965218630 CA88862590	215	L>V		No	ClinGen Ensembl
rs976473069 CA88862608	216	E>D		No	ClinGen Ensembl
rs199692911 CA2731999	217	P>L		No	ClinGen ExAC TOPMed gnomAD
rs984234733 CA88862615	219	A>G		No	ClinGen TOPMed gnomAD
CA355384497 rs1429023973	220	N>I		No	ClinGen TOPMed gnomAD
rs780755870 CA2732001	220	N>Y		No	ClinGen ExAC gnomAD
rs752416317 CA2732002	223	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1301261088 CA355384609	224	P>L		No	ClinGen gnomAD
rs1301261088 CA355384601	224	P>R		No	ClinGen gnomAD
CA2732003 rs202065231	224	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777638671 CA2732004	226	V>A		No	ClinGen ExAC gnomAD
CA88862632 rs745838960	226	V>I		No	ClinGen gnomAD
CA355384675 rs1577202873	227	A>V		No	ClinGen Ensembl
rs1313775125 CA355384722	230	V>F		No	ClinGen gnomAD
rs972974112 CA88862640	231	R>P		No	ClinGen TOPMed gnomAD
rs972974112 CA355384736	231	R>Q		No	ClinGen TOPMed gnomAD
CA2732006 rs770923805	231	R>W		No	ClinGen ExAC gnomAD
CA355384759 rs1189944680	232	P>L		No	ClinGen TOPMed gnomAD
CA355384756 rs1230725389	232	P>S		No	ClinGen TOPMed
CA355385060 rs1282415952	233	D>E		No	ClinGen gnomAD
CA88862642 rs374947506	233	D>N		No	ClinGen Ensembl
CA2732038 rs775134346	234	D>G		No	ClinGen ExAC gnomAD
rs144543953 CA2732040	235	R>Q		No	ClinGen ESP ExAC gnomAD
CA2732039 rs760215803	235	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1252054145 CA355385155	238	G>E		No	ClinGen gnomAD
rs1203953088 CA355385147	238	G>R		No	ClinGen gnomAD
rs1560212621 CA355385214	240	I>N		No	ClinGen Ensembl
rs1577204568 CA355385205	240	I>V		No	ClinGen Ensembl
CA2732042 rs757009813	241	I>N		No	ClinGen ExAC gnomAD
rs757009813 CA2732043	241	I>T		No	ClinGen ExAC gnomAD
rs1260838986 CA355385233	241	I>V		No	ClinGen TOPMed
CA2732045 rs750265716	244	R>G		No	ClinGen ExAC TOPMed gnomAD
rs147855566 CA355385316	244	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147855566 CA2732046	244	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750265716 CA2732044	244	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2732047 rs748298511	245	P>S		No	ClinGen ExAC gnomAD
rs748298511 CA2732048	245	P>T		No	ClinGen ExAC gnomAD
rs998119412 CA88862876	248	P>R		No	ClinGen Ensembl
rs1342875311 CA355385462	250	P>R		No	ClinGen TOPMed
CA2732050 rs749552222	252	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2732049 rs778091906	252	H>Y		No	ClinGen ExAC gnomAD
CA2732051 rs528310917	254	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA88862891 rs1049994301	255	S>A		No	ClinGen Ensembl
rs1577204749 CA355385670	258	Q>R		No	ClinGen Ensembl
CA2732053 rs367754765	260	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732052 rs774914691	260	S>P		No	ClinGen ExAC gnomAD
CA2732055 rs774842696	261	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2732057 rs763629594	262	P>A		No	ClinGen ExAC TOPMed gnomAD
CA355385754 rs763629594	262	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2732058 rs772606370	264	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1443519534 CA355385879	266	P>L		No	ClinGen TOPMed gnomAD
CA355385875 rs1255836038	266	P>S		No	ClinGen gnomAD
rs750295877 CA2732061	267	S>L		No	ClinGen ExAC TOPMed gnomAD
CA355385938 rs1347558319	269	S>F		No	ClinGen Ensembl
CA2732062 rs758235122	270	P>S		No	ClinGen ExAC gnomAD
rs1392261327 CA355385967	271	V>A		No	ClinGen gnomAD
CA2732063 rs139626338	274	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778005173 CA2732066	276	S>F		No	ClinGen ExAC TOPMed gnomAD
CA355386105 rs1338679788	278	P>L		No	ClinGen gnomAD
rs1396364960 CA355386098	278	P>S		No	ClinGen gnomAD
CA2732068 rs757619292	281	A>E		No	ClinGen ExAC gnomAD
rs1418446532 CA355386163	281	A>T		No	ClinGen TOPMed gnomAD
CA88862935 rs960905810	283	L>V		No	ClinGen Ensembl
rs746291399 CA2732070	284	S>C		No	ClinGen ExAC gnomAD
rs1480626315 CA355386281	286	P>L		No	ClinGen TOPMed
rs772342912 CA2732071	287	G>R		No	ClinGen ExAC
CA2732072 rs144947145	290	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA88862969 rs974387728	290	M>V		No	ClinGen TOPMed gnomAD
rs1346198556 CA355386382	291	T>A		No	ClinGen gnomAD
rs1281007337 CA355386394	292	T>A		No	ClinGen TOPMed
CA88862992 rs929608822	293	I>L		No	ClinGen TOPMed
CA88863001 rs754115089	293	I>T		No	ClinGen TOPMed gnomAD
rs1266854196 CA355386455	294	Q>H		No	ClinGen TOPMed gnomAD
rs1464789453 CA355386499	296	S>C		No	ClinGen gnomAD
CA355386546 rs1431694695	300	S>A		No	ClinGen gnomAD
rs1577205237 CA355386556	300	S>L		No	ClinGen Ensembl
CA355386559 rs1577205246	301	T>P		No	ClinGen Ensembl
CA2732076 rs761454352	304	S>F		No	ClinGen ExAC gnomAD
rs116508885 CA2732077	305	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151151194 CA2732078	305	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151151194 CA88863016	305	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370100320 CA2732080	309	E>G		No	ClinGen ESP ExAC gnomAD
rs16858632 VAR_055704 CA2732082	311	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2732083 rs112887352	312	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754009820 CA2732084	312	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765342313 CA2732085	313	L>F		No	ClinGen ExAC gnomAD
rs779145214 CA2732086	313	L>P		No	ClinGen ExAC TOPMed gnomAD
CA88863064 rs999745931	315	P>A		No	ClinGen TOPMed
CA355386895 rs1005414726	318	T>I		No	ClinGen gnomAD
CA88863073 rs1005414726	318	T>S		No	ClinGen gnomAD
rs1209748965 CA355386913	319	P>L		No	ClinGen TOPMed
rs1435063596 CA355386940	321	A>T		No	ClinGen TOPMed gnomAD
rs747708020 CA2732093	322	E>D		No	ClinGen ExAC gnomAD
rs1409430751 CA355386968	322	E>K		No	ClinGen gnomAD
rs1159871155 CA355386996	323	P>A		No	ClinGen gnomAD
rs769211472 CA2732094	324	I>V		No	ClinGen ExAC gnomAD
CA2732096 rs762518639	327	V>I		No	ClinGen ExAC gnomAD
rs896494678 CA88863093	332	S>C		No	ClinGen TOPMed
rs200405556 CA2732098	334	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200405556 CA2732097	334	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs993880947 CA88863103	334	P>S		No	ClinGen TOPMed gnomAD
CA2732100 rs534160869	335	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA355387393 rs1401059773	337	E>Q		No	ClinGen TOPMed
CA2732101 rs139021806	338	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA88863129 rs1023757531	338	S>P		No	ClinGen TOPMed
CA2732102 rs191357892	339	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA88863142 rs995372781	341	S>F		No	ClinGen TOPMed gnomAD
rs1023911582 CA88863143	344	P>L		No	ClinGen TOPMed gnomAD
rs750597188 CA2732104	344	P>S		No	ClinGen ExAC gnomAD
CA355387540 rs1251323549	345	L>F		No	ClinGen gnomAD
rs377106291 CA2732105	346	Q>K		No	ClinGen ESP ExAC gnomAD
CA2732106 rs766765874	348	P>A		No	ClinGen ExAC gnomAD
rs1243059468 CA355387616	349	T>I		No	ClinGen TOPMed
CA2732108 rs200118452	352	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA355387709 rs1185972581	353	S>F		No	ClinGen gnomAD
CA355387717 rs1449030593	354	H>Y		No	ClinGen TOPMed
rs372070334 CA2732109	355	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732110 rs199812237	355	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355387752 rs199812237	355	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355387822 rs1247524103	358	I>T		No	ClinGen TOPMed
CA355387811 rs1291920303	358	I>V		No	ClinGen TOPMed
rs1380564622 CA355387953	364	M>V		No	ClinGen TOPMed
CA88863157 rs924110845	368	E>K		No	ClinGen TOPMed gnomAD
rs1300189669 CA355388137	372	P>A		No	ClinGen gnomAD
rs777162450 CA2732112	373	E>K		No	ClinGen ExAC TOPMed gnomAD
CA355388190 rs1577206073	374	V>E		No	ClinGen Ensembl
CA2732114 rs748965149	374	V>L		No	ClinGen ExAC gnomAD
rs748965149 CA2732113	374	V>M		No	ClinGen ExAC gnomAD
CA2732116 rs745607348	375	E>K		No	ClinGen ExAC TOPMed gnomAD
CA355388224 rs1274264233	376	S>P		No	ClinGen TOPMed gnomAD
CA88863173 rs560302663	378	P>L		No	ClinGen Ensembl
rs772020961 CA2732117	380	L>P		No	ClinGen ExAC TOPMed gnomAD
rs772020961 CA355388287	380	L>R		No	ClinGen ExAC TOPMed gnomAD
CA88863177 rs142095694	381	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs142095694 CA2732118	381	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732119 rs554751656	382	P>L		No	ClinGen ExAC gnomAD
rs1256742178 CA355388310	383	P>R		No	ClinGen gnomAD
CA355388307 rs1181248167	383	P>S		No	ClinGen gnomAD
rs1328890317 CA355388313	384	P>A		No	ClinGen TOPMed gnomAD
CA2732121 rs773236417	384	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2732122 rs773236417	384	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1240764445 CA355388340	386	C>R		No	ClinGen TOPMed
rs923244009 CA88863202	389	E>K		No	ClinGen TOPMed gnomAD
CA2732126 rs767874986	390	S>T		No	ClinGen ExAC TOPMed gnomAD
CA355388430 rs1356594816	391	P>L		No	ClinGen TOPMed
CA355388426 rs1444395264	391	P>S		No	ClinGen TOPMed gnomAD
CA2732127 rs753146482	392	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2732128 rs756637859	393	P>R		No	ClinGen ExAC gnomAD
CA2732129 rs777306582	394	I>V		No	ClinGen ExAC gnomAD
rs748798289 CA2732130	396	P>L		No	ClinGen ExAC gnomAD
rs963754339 CA88863215	397	T>I		No	ClinGen TOPMed
CA88863217 rs932025472	398	A>V		No	ClinGen Ensembl
rs1341354380 CA355388550	400	P>S		No	ClinGen TOPMed
CA355388616 rs778666618	404	L>F		No	ClinGen ExAC gnomAD
CA2732132 rs778666618	404	L>V		No	ClinGen ExAC gnomAD
rs369122710 CA2732133	405	N>S		No	ClinGen ESP ExAC gnomAD
rs544371885 CA2732134	407	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA88863230 rs975559220	407	A>V		No	ClinGen TOPMed
CA2732136 rs746958243	408	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2732135 rs775479554	408	P>T		No	ClinGen ExAC gnomAD
rs768520497 CA2732137	409	S>L		No	ClinGen ExAC TOPMed gnomAD
rs897000899 CA355388720	413	V>L		No	ClinGen gnomAD
rs897000899 CA88863249	413	V>M		No	ClinGen gnomAD
CA355388739 rs1433029103	414	D>Y		No	ClinGen TOPMed gnomAD
CA355388828 rs1417984608	419	S>G		No	ClinGen TOPMed
CA2732140 rs138207269	419	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA355388878 rs1480933867	421	P>L		No	ClinGen TOPMed
rs1432948375 CA355388920	425	A>T		No	ClinGen gnomAD
rs1367161098 CA355388932	427	E>K		No	ClinGen gnomAD
CA2732141 rs774491851	429	T>I		No	ClinGen ExAC gnomAD
rs2178403 CA355389007	432	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355389031 rs1489707796	433	A>T		No	ClinGen TOPMed
CA2732143 rs145998921	433	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355389061 rs1267395314	434	P>L		No	ClinGen gnomAD
rs761222194 CA2732145	435	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1244690813 CA355389079	435	P>L		No	ClinGen gnomAD
CA2732146 rs764457704	436	T>A		No	ClinGen ExAC TOPMed gnomAD
rs368488743 CA88863294	436	T>I		No	ClinGen gnomAD
CA355389083 rs764457704	436	T>P		No	ClinGen ExAC TOPMed gnomAD
CA2732150 rs778576519	437	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2732148 rs144222028	437	I>V		No	ClinGen ESP ExAC gnomAD
CA2732151 rs758187479	438	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1321594118 CA355389137	438	P>L		No	ClinGen gnomAD
rs758187479 CA355389129	438	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2732153 rs746832251	439	S>P		No	ClinGen ExAC gnomAD
rs148709174 CA2732154	439	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732155 rs780954180	441	T>I		No	ClinGen ExAC gnomAD
rs748122865 CA2732156	442	P>S		No	ClinGen ExAC gnomAD
rs1351307766 CA355389220	443	A>P		No	ClinGen gnomAD
rs1224971220 CA355389240	444	T>A		No	ClinGen gnomAD
rs143014570 CA2732158	444	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355389253 rs143014570	444	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772328189 CA2732161	445	A>D		No	ClinGen ExAC gnomAD
rs759750384 CA355389266	445	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2732159 rs759750384	445	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2732160 rs772328189	445	A>V		No	ClinGen ExAC gnomAD
CA2732163 rs764522488	447	S>L		No	ClinGen ExAC TOPMed gnomAD
rs760905746 CA2732162	447	S>P		No	ClinGen ExAC gnomAD
CA355389335 rs540478617	448	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2732164 rs540478617	448	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1001128405 CA88863351	449	T>A		No	ClinGen TOPMed gnomAD
CA2732165 rs762466030	450	S>F		No	ClinGen ExAC gnomAD
rs1470520501 CA355389380	450	S>P		No	ClinGen TOPMed
rs147419996 CA2732166	451	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA88863353 rs956877332	452	A>V		No	ClinGen Ensembl
rs1560214482 CA355389441	453	Q>E		No	ClinGen Ensembl
rs1398912233 CA355389492	455	E>K		No	ClinGen gnomAD
CA355389538 rs1577207159	456	E>G		No	ClinGen Ensembl
rs976146603 CA88863363	457	M>V		No	ClinGen gnomAD
CA355389628 rs1307110314	458	E>A		No	ClinGen gnomAD
CA88863390 rs766983793	459	E>A		No	ClinGen Ensembl
rs1560214592 CA355389717	461	E>K		No	ClinGen Ensembl
rs1030450552 CA88863398	462	E>G		No	ClinGen Ensembl
rs751259280 CA2732177	463	E>G		No	ClinGen ExAC TOPMed gnomAD
CA355389793 rs1355098520	463	E>K		No	ClinGen gnomAD
CA2732180 rs1371214485	465	E>A		No	ClinGen TOPMed
CA355389858 rs953496082	465	E>D		No	ClinGen TOPMed gnomAD
CA88863405 rs953496082	465	E>D		No	ClinGen TOPMed gnomAD
rs1371214485 CA355389845	465	E>G		No	ClinGen TOPMed
CA2732182 rs781055057	466	G>E		No	ClinGen ExAC gnomAD
CA88863409 rs200221361	468	A>E		No	ClinGen Ensembl
rs769791303 CA2732185	469	G>E		No	ClinGen ExAC gnomAD
CA355390080 rs1186103427	471	A>G		No	ClinGen gnomAD
CA88863410 rs986186762	472	G>E		No	ClinGen Ensembl
rs1445379706 CA355390097	472	G>R		No	ClinGen gnomAD
rs1388558132 CA355390149	473	E>D		No	ClinGen gnomAD
rs772168600 CA2732189	474	A>T		No	ClinGen ExAC gnomAD
CA355390204 rs1396995547	475	E>K		No	ClinGen gnomAD
CA355390220 rs1358225741	475	E>V		No	ClinGen TOPMed
rs1159332567 CA355390282	476	S>T		No	ClinGen TOPMed
rs145228718 CA2732191	477	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs145228718 CA88863422	477	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732192 rs529056313	480	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA355390463 rs898607114	482	E>K		No	ClinGen TOPMed gnomAD
CA88863427 rs898607114	482	E>Q		No	ClinGen TOPMed gnomAD
CA2732193 rs777116619	483	L>V		No	ClinGen ExAC gnomAD
CA2732195 rs550404170	484	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355390549 rs1560214929	484	L>H		No	ClinGen Ensembl
CA355390608 rs1199082511	485	P>L		No	ClinGen gnomAD
rs1199082511 CA355390601	485	P>R		No	ClinGen gnomAD
CA2732196 rs773882498	485	P>S		No	ClinGen ExAC gnomAD
rs112545306 CA2732199	486	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2732200 rs754719526	486	P>L		No	ClinGen ExAC TOPMed gnomAD
CA355390618 rs754719526	486	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA355390623 rs754719526	486	P>R		No	ClinGen ExAC TOPMed gnomAD
rs112545306 CA2732198	486	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112545306 CA355390617	486	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355390655 rs1246792006	488	S>T		No	ClinGen TOPMed
rs1194227121 CA355390665	489	T>I		No	ClinGen TOPMed gnomAD
rs202143168 CA2732204	491	I>F		No	ClinGen ExAC TOPMed gnomAD
rs532807902 CA355390711	493	A>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs532807902 CA88863467	493	A>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1476307707 CA355390709	493	A>S		No	ClinGen gnomAD
rs1476307707 CA355390706	493	A>T		No	ClinGen gnomAD
rs758414305 CA2732206	496	S>F		No	ClinGen ExAC gnomAD
CA2732207 rs780235176	499	L>S		No	ClinGen ExAC TOPMed gnomAD
CA355390847 rs1385851681	500	E>G		No	ClinGen gnomAD
rs768959301 CA2732210	502	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2732211 rs748478178	503	A>P		No	ClinGen ExAC gnomAD
CA88863500 rs867899920	504	A>D		No	ClinGen Ensembl
CA2732243 rs753671653	509	V>L		No	ClinGen ExAC gnomAD
CA88863698 rs997186898	510	S>C		No	ClinGen TOPMed
rs968798946 CA88863699	516	R>Q		No	ClinGen TOPMed
rs765169450 CA2732245	516	R>W		No	ClinGen ExAC TOPMed gnomAD
CA355391341 rs1407151700	520	E>D		No	ClinGen gnomAD
CA355391420 rs1309746126	524	K>R		No	ClinGen gnomAD
CA2732250 rs781438066	526	A>P		No	ClinGen ExAC TOPMed gnomAD
CA355391531 rs1560215663	529	D>E		No	ClinGen Ensembl
CA355391567 rs1292868145	531	L>M		No	ClinGen TOPMed gnomAD
CA355392476 rs1361781449	532	D>H		No	ClinGen gnomAD
rs1361781449 CA355392471	532	D>N		No	ClinGen gnomAD
rs762074045 CA88863736	535	K>N		No	ClinGen Ensembl
CA88863740 rs199642332	536	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA355392601 rs1272153665	536	E>K		No	ClinGen gnomAD
rs1272153665 CA355392602	536	E>Q		No	ClinGen gnomAD
rs199642332 CA2732253	536	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1482201931 CA355392726	537	A>T		No	ClinGen gnomAD
rs369883974 CA2732268	537	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487651887 CA355392796	538	N>S		No	ClinGen TOPMed
rs561916314 CA2732272	539	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA88863796 rs561916314	539	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355392848 rs561916314	539	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752865003 CA2732271	539	P>T		No	ClinGen ExAC gnomAD
CA2732275 rs757581725	541	V>G		No	ClinGen ExAC gnomAD
rs1357945912 CA355392916	542	P>L		No	ClinGen gnomAD
CA2732276 rs201832636	544	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2732277 rs746381416	545	E>K		No	ClinGen ExAC gnomAD
CA355393029 rs1420261014	546	N>D		No	ClinGen gnomAD
rs1577210488 CA355393050	546	N>S		No	ClinGen Ensembl
rs1432964675 CA355393131	549	P>S		No	ClinGen gnomAD
CA2732279 rs111924994	550	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2732280 rs746470107	551	G>S		No	ClinGen ExAC gnomAD
CA355393222 rs1297390938	552	S>N		No	ClinGen gnomAD
CA88863863 rs373335441	553	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA88863865 rs865954248	553	N>K		No	ClinGen Ensembl
CA2732281 rs373335441	553	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373335441 CA88863846	553	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732283 rs747771730	554	P>R		No	ClinGen ExAC gnomAD
CA2732282 rs776283584	554	P>S		No	ClinGen ExAC gnomAD
CA2732285 rs772950492	556	P>L		No	ClinGen ExAC TOPMed gnomAD
CA355393321 rs1399503597	556	P>S		No	ClinGen TOPMed
RCV000585522 CA355393387 rs1241165074	558	S>F		No	ClinGen ClinVar dbSNP gnomAD
rs149685875 CA88863876	560	G>D		No	ClinGen ESP TOPMed
CA355393450 rs1485959227	561	S>R		No	ClinGen gnomAD
CA355393501 rs1188686638	562	G>S		No	ClinGen gnomAD
CA2732286 rs762917023	564	P>S		No	ClinGen ExAC TOPMed gnomAD
rs376223474 CA2732289	565	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2732288 rs376223474	565	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs925058668 CA88863896	565	P>S		No	ClinGen Ensembl
rs145521479 CA2732290	566	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA88863907 rs1025100477	566	R>H		No	ClinGen TOPMed gnomAD
CA88863911 rs140212150	567	P>H		No	ClinGen ESP TOPMed gnomAD
CA355393648 rs140212150	567	P>L		No	ClinGen ESP TOPMed gnomAD
CA2732291 rs754078014	570	A>T		No	ClinGen ExAC gnomAD
CA2732292 rs757486634	570	A>V		No	ClinGen ExAC gnomAD
CA355393732 rs1269025478	571	D>N		No	ClinGen TOPMed
rs1449806503 CA355393792	574	W>S		No	ClinGen TOPMed
rs1404091644 CA355393841	577	K>Q		No	ClinGen gnomAD
rs1283919676 CA355393996	581	I>T		No	ClinGen TOPMed gnomAD
rs1560216349 CA355393982	581	I>V		No	ClinGen Ensembl
CA2732295 rs750797746	583	N>I		No	ClinGen ExAC gnomAD
rs750797746 CA2732294	583	N>S		No	ClinGen ExAC gnomAD
CA355394084 rs780495436	584	A>D		No	ClinGen ExAC TOPMed gnomAD
CA2732296 rs780495436	584	A>V		No	ClinGen ExAC TOPMed gnomAD
rs200160400 CA2732298	585	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747522529 CA2732297	585	E>K		No	ClinGen ExAC gnomAD
rs1218297785 CA355394148	586	N>T		No	ClinGen TOPMed
rs780629228 CA2732299	588	Q>E		No	ClinGen ExAC gnomAD
rs747836331 CA355394207	588	Q>L		No	ClinGen ExAC gnomAD
rs747836331 CA2732300	588	Q>R		No	ClinGen ExAC gnomAD
CA2732301 rs769372970	589	P>L		No	ClinGen ExAC gnomAD
CA355394250 rs1271698593	590	G>R		No	ClinGen gnomAD
CA355394293 rs1158100633	592	Q>K		No	ClinGen TOPMed gnomAD
rs201900692 CA88863947	593	K>N		No	ClinGen 1000Genomes
rs1349811917 CA355394409	594	Y>C		No	ClinGen TOPMed
rs1330091724 CA355394437	595	E>A		No	ClinGen TOPMed
CA355394427 rs1408857573	595	E>K		No	ClinGen gnomAD
rs770882414 CA2732304	596	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA355394461 rs1402496097	596	Y>H		No	ClinGen gnomAD
rs1265717468 CA355394547	598	S>L		No	ClinGen gnomAD
rs745768721 CA2732325	600	Q>R		No	ClinGen ExAC gnomAD
rs145247318 CA88863976	601	W>R		No	ClinGen ESP TOPMed
rs538505681 CA2732326	604	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2732327 rs775515280	608	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1246308475 CA355394727	610	K>R		No	ClinGen gnomAD
rs375909191 CA2732328	611	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs769919030 CA2732329	611	R>H		No	ClinGen ExAC TOPMed gnomAD
rs763222239 CA2732331	613	D>N		No	ClinGen ExAC gnomAD
rs1201880206 CA355394753	614	R>C		No	ClinGen gnomAD
CA2732332 rs766729917	619	G>D		No	ClinGen ExAC gnomAD
rs1242570291 CA355394786	619	G>R		No	ClinGen gnomAD
CA355394829 rs1185717390	625	A>T		No	ClinGen gnomAD
CA2732333 rs781077577	635	H>R		No	ClinGen ExAC TOPMed gnomAD
CA88864059 rs183327337	637	S>C		No	ClinGen 1000Genomes gnomAD
CA2732359 rs764938927	644	A>S		No	ClinGen ExAC gnomAD
rs750102836 CA2732361	645	N>I		No	ClinGen ExAC TOPMed gnomAD
rs750102836 CA2732360	645	N>S		No	ClinGen ExAC TOPMed gnomAD
CA355395090 rs1452407824	647	T>I		No	ClinGen gnomAD
rs969580781 CA88864164	650	R>W		No	ClinGen TOPMed gnomAD
CA2732362 rs536619277	651	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs777813406 CA2732365	652	L>V		No	ClinGen ExAC gnomAD
CA88864183 rs943546177	654	P>L		No	ClinGen gnomAD
CA355395151 rs1577213199	655	T>S		No	ClinGen Ensembl
CA355395173 rs1425293604	659	G>S		No	ClinGen TOPMed
rs371595176 CA2732368	660	I>M		No	ClinGen ESP ExAC gnomAD
rs145780534 CA88864193	661	N>S		No	ClinGen ESP TOPMed
CA355395197 rs1357478689	662	C>F		No	ClinGen gnomAD
CA355395202 rs1220002268	663	G>S		No	ClinGen gnomAD
CA355395211 rs1422985862	664	P>L		No	ClinGen TOPMed
CA2732369 rs746117763	667	T>I		No	ClinGen ExAC gnomAD
rs772318117 CA2732370	669	S>P		No	ClinGen ExAC gnomAD
CA2732374 rs777304254	675	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2732373 rs764646714	675	R>W		No	ClinGen ExAC TOPMed gnomAD
CA355395380 rs1442345776	677	T>A		No	ClinGen gnomAD
CA2732375 rs566648502	678	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2732376 rs764849209	681	R>C		No	ClinGen ExAC TOPMed gnomAD
rs750028797 CA2732377	681	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1396318334 CA355395551	684	P>L		No	ClinGen gnomAD
CA2732378 rs112019125 VAR_066574	686	G>C	found in patients with Parkinson disease; unknown pathological significance [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA2732379 rs766059655	686	G>D		No	ClinGen ExAC gnomAD
rs1047827919 CA88864227	693	P>S		No	ClinGen TOPMed gnomAD
CA355395762 rs1220130432	694	R>H		No	ClinGen TOPMed
CA2732381 rs754755344 VAR_036117	696	P>L	a colorectal cancer sample; somatic mutation [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1560217689 CA355395973	697	A>S		No	ClinGen Ensembl
CA2732407 rs373584582	698	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1047796264 CA88864395	699	L>Q		No	ClinGen gnomAD
rs750466978 CA2732408	701	P>T		No	ClinGen ExAC TOPMed gnomAD
rs758438232 CA2732409	702	R>W		No	ClinGen ExAC gnomAD
CA88864399 rs575636507	703	R>C		No	ClinGen gnomAD
CA2732410 rs780251553	703	R>H		No	ClinGen ExAC gnomAD
rs747206071 CA2732411	704	S>A		No	ClinGen ExAC TOPMed gnomAD
CA2732412 rs141054452	704	S>C		No	ClinGen ESP ExAC gnomAD
rs747206071 CA355396072	704	S>T		No	ClinGen ExAC TOPMed gnomAD
CA355396145 rs1334533666	708	P>H		No	ClinGen TOPMed
CA2732413 rs781731243	715	I>V		No	ClinGen ExAC gnomAD
CA2732415 rs111396765	717	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732417 rs762489288	719	V>M		No	ClinGen ExAC gnomAD
rs1222394655 CA355396418	721	M>L		No	ClinGen gnomAD
rs1302351189 CA355396461	722	T>I		No	ClinGen TOPMed
rs770352096 CA355396464	723	E>K		No	ClinGen ExAC TOPMed gnomAD
rs770352096 CA2732418	723	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs773998833 CA2732419	724	D>Y		No	ClinGen ExAC gnomAD
rs759245509 CA2732420	725	I>V		No	ClinGen ExAC TOPMed gnomAD
CA355396526 rs767298036	726	K>E		No	ClinGen ExAC TOPMed gnomAD
rs767298036 CA2732421	726	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA355396581 rs1577214883	728	N>D		No	ClinGen Ensembl
rs1190032438 CA355396642	730	A>T		No	ClinGen TOPMed
rs764051517 CA2732424	738	S>G		No	ClinGen ExAC gnomAD
CA355396866 rs1560217936	739	K>Q		No	ClinGen Ensembl
rs905875693 CA88864452	739	K>R		No	ClinGen TOPMed gnomAD
rs1032284086 CA88864454	740	R>Q		No	ClinGen Ensembl
CA88864453 rs1002506834	740	R>W		No	ClinGen Ensembl
CA355396910 rs1345940600	741	T>A		No	ClinGen gnomAD
rs147678593 CA2732425	741	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147678593 CA2732426	741	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs925753889 CA88864458	742	A>T		No	ClinGen TOPMed
CA2732428 rs751825007	742	A>V		No	ClinGen ExAC TOPMed gnomAD
CA355396942 rs1340703031	743	A>T		No	ClinGen gnomAD
rs781676030 CA2732430	747	R>Q		No	ClinGen ExAC gnomAD
CA355397060 rs1338932878	748	G>E		No	ClinGen TOPMed
CA2732431 rs748478187	748	G>R		No	ClinGen ExAC TOPMed gnomAD
rs376603481 CA2732434	758	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328069246 CA355397416	759	D>G		No	ClinGen TOPMed gnomAD
rs142947014 CA2732458	759	D>H		No	ClinGen ESP ExAC gnomAD
rs1328069246 CA355397413	759	D>V		No	ClinGen TOPMed gnomAD
CA2732459 rs763036356	760	L>V		No	ClinGen ExAC gnomAD
rs998464161 CA88864622	762	R>P		No	ClinGen TOPMed
rs1381509024 CA355397580	765	R>H		No	ClinGen gnomAD
CA2732464 rs370149362	795	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732466 rs759623804	801	I>V		No	ClinGen ExAC gnomAD
CA2732467 rs62287499 VAR_066575	806	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355399001 rs1474293525	811	F>L		No	ClinGen gnomAD
rs764491600 CA2732470	812	S>F		No	ClinGen ExAC gnomAD
rs1424246835 CA355399055	813	V>M		No	ClinGen gnomAD
rs866461214 CA88864687	820	R>C		No	ClinGen Ensembl
rs754099344 CA2732471	823	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1396287350 CA355399597	824	A>T		No	ClinGen gnomAD
CA2732472 rs757669338	824	A>V		No	ClinGen ExAC gnomAD
rs901341866 CA88864822	826	K>N		No	ClinGen TOPMed
CA88864824 rs111500185	829	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732494 VAR_066576 rs111500185	829	T>S		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs779515261 CA2732495	830	T>A		No	ClinGen ExAC gnomAD
CA2732496 rs371317759	830	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA355400185 rs1200299669	833	P>A		No	ClinGen gnomAD
CA88864840 rs1027249874	834	T>A		No	ClinGen TOPMed gnomAD
rs747850664 CA2732499	834	T>I		No	ClinGen ExAC gnomAD
rs747850664 CA2732500	834	T>K		No	ClinGen ExAC gnomAD
rs774374620 CA2732504	846	R>Q		No	ClinGen ExAC gnomAD
rs1376209841 CA355400873	857	D>N		No	ClinGen gnomAD
CA355401079 rs1311721615	864	K>N		No	ClinGen gnomAD
rs1355670386 CA355401101	865	Q>R		No	ClinGen gnomAD
rs1264806562 CA355401172	868	M>V		No	ClinGen gnomAD
CA2732507 rs375514524 RCV000998168	870	E>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2732508 rs762162147	872	A>T		No	ClinGen ExAC gnomAD
CA2732509 rs765555046	873	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1339695176 CA355403368	874	A>T		No	ClinGen gnomAD
CA2732544 rs779876951	874	A>V		No	ClinGen ExAC TOPMed gnomAD
CA355403392 rs1209473529	875	E>G		No	ClinGen gnomAD
rs867124532 CA88865897	877	R>*		No	ClinGen gnomAD
rs1309907826 CA355403449	877	R>Q		No	ClinGen TOPMed gnomAD
rs1048788161 CA88865899	879	R>C		No	ClinGen TOPMed gnomAD
rs1199797589 CA355403517	879	R>H		No	ClinGen TOPMed gnomAD
rs1209055550 CA355403530	880	L>Q		No	ClinGen gnomAD
rs936223156 CA88865904	883	E>K		No	ClinGen TOPMed
rs769869099 CA2732546	888	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1263129713 CA355403754	888	R>P		No	ClinGen TOPMed gnomAD
CA355403753 rs1263129713	888	R>Q		No	ClinGen TOPMed gnomAD
CA2732547 rs769869099	888	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1577221928 CA355403780	889	D>G		No	ClinGen Ensembl
CA355403813 rs1268487312	890	I>T		No	ClinGen TOPMed
rs373331022 CA2732549	890	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732550 rs774823657	891	A>S		No	ClinGen ExAC gnomAD
CA355403867 rs1430713274	892	R>W		No	ClinGen TOPMed
rs759941916 CA2732551	893	R>Q		No	ClinGen ExAC gnomAD
CA88865912 rs940435791	893	R>W		No	ClinGen gnomAD
CA355403916 rs1332119177	894	R>C		No	ClinGen TOPMed
CA2732553 rs776174385	896	L>S		No	ClinGen ExAC gnomAD
CA2732554 rs760202957	899	I>V		No	ClinGen ExAC gnomAD
CA88865936 rs376550543	905	L>F		No	ClinGen ESP
rs1218057936 CA355404976	926	N>K		No	ClinGen gnomAD
CA355405002 rs1324863648	927	H>R		No	ClinGen TOPMed
CA355405038 rs1214946367	928	D>E		No	ClinGen gnomAD
rs750183330 CA355405009	928	D>H		No	ClinGen ExAC TOPMed gnomAD
rs750183330 CA2732559	928	D>N		No	ClinGen ExAC TOPMed gnomAD
rs779972793 CA2732561	932	L>F		No	ClinGen ExAC gnomAD
rs756174150 CA2732563	937	R>H		No	ClinGen ExAC gnomAD
rs777897728 CA2732564	939	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2732567 rs779029056	942	I>V		No	ClinGen ExAC gnomAD
CA2732569 rs772334508	950	K>T		No	ClinGen ExAC gnomAD
CA355405909 rs1185651822	953	P>S		No	ClinGen gnomAD
CA355405917 rs1472336155	954	R>G		No	ClinGen gnomAD
rs1310467182 CA355405955	955	M>T		No	ClinGen TOPMed
rs1182443357 CA355405939	955	M>V		No	ClinGen gnomAD
CA2732595 rs191888688	960	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766132108 CA2732597	962	M>V		No	ClinGen ExAC TOPMed gnomAD
rs200601328 CA88866087	963	E>G		No	ClinGen Ensembl
CA355406394 rs1553848449	966	I>V		No	ClinGen Ensembl
rs1466902711 CA355406584	969	K>R		No	ClinGen gnomAD
CA2732600 rs767404672	971	T>M		No	ClinGen ExAC TOPMed gnomAD
CA355406721 rs1440984306	973	S>F		No	ClinGen TOPMed
CA2732602 rs757344016	978	M>T		No	ClinGen ExAC gnomAD
rs1314163243 CA355406954	982	V>M		No	ClinGen TOPMed
rs1374699503 CA355407062	985	L>M		No	ClinGen TOPMed
rs907198408 CA88866115	987	G>A		No	ClinGen TOPMed
rs771820943 CA2732637	988	S>G		No	ClinGen ExAC gnomAD
CA355407693 rs1216321301	996	D>A		No	ClinGen TOPMed
CA355408029 rs1451622357	1004	Q>E		No	ClinGen gnomAD
rs1577225005 CA355408038	1004	Q>R		No	ClinGen Ensembl
rs752955713 CA2732647	1006	H>R		No	ClinGen ExAC gnomAD
CA2732648 rs542024156	1014	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA355408492 rs1439531287	1016	E>D		No	ClinGen TOPMed gnomAD
rs778078947 CA2732649	1018	I>V		No	ClinGen ExAC gnomAD
rs754359518 CA2732650	1019	K>R		No	ClinGen ExAC gnomAD
rs1436883221 CA355408620	1021	Q>R		No	ClinGen TOPMed
CA355408672 rs1456865027	1022	Q>R		No	ClinGen gnomAD
CA355408965 rs1391557692	1031	R>H		No	ClinGen gnomAD
rs778431870 CA2732652	1032	R>W		No	ClinGen ExAC gnomAD
CA355409016 rs1424493002	1033	G>S		No	ClinGen TOPMed
rs745495367 CA2732653	1034	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2732655 rs771572075	1036	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2732654 rs771572075	1036	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1419377329 CA355409161	1037	G>V		No	ClinGen TOPMed
rs1192158383 CA355409189	1038	P>L		No	ClinGen TOPMed
CA88866297 rs201287395	1039	P>L		No	ClinGen 1000Genomes
rs375741597 CA2732656	1041	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732702 rs747077459	1042	R>C		No	ClinGen ExAC gnomAD
CA2732703 rs201567302	1042	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355409394 rs1176993654	1043	G>R		No	ClinGen gnomAD
CA2732704 rs776839352	1044	L>V		No	ClinGen ExAC TOPMed gnomAD
CA355409442 rs1436277907	1045	P>A		No	ClinGen TOPMed gnomAD
CA355409445 rs1436277907	1045	P>S		No	ClinGen TOPMed gnomAD
CA88866614 rs267599714	1046	L>F		No	ClinGen Ensembl
CA2732706 rs765645340	1048	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1316499829 CA355409551	1049	D>V		No	ClinGen TOPMed
CA355409628 rs1577227070	1053	N>D		No	ClinGen Ensembl
rs199973292 CA2732707	1053	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs765785554 CA2732709	1057	I>S		No	ClinGen ExAC gnomAD
rs763555450 CA2732708	1057	I>V		No	ClinGen ExAC gnomAD
CA355409760 rs1350587942	1061	S>G		No	ClinGen gnomAD
rs373591739 CA2732710	1062	R>C		No	ClinGen ESP ExAC gnomAD
CA355409783 rs1577227194	1062	R>P		No	ClinGen Ensembl
rs1015283417 CA88866673	1064	I>V		No	ClinGen Ensembl
rs1387681710 CA355409875	1070	T>N		No	ClinGen TOPMed
rs1465507059 CA355409883	1071	K>N		No	ClinGen gnomAD
rs760654524 CA2732713	1071	K>R		No	ClinGen ExAC gnomAD
CA355409894 rs1171463272	1073	T>A		No	ClinGen gnomAD
rs146433145 CA2732714	1073	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA355411951 rs140705298	1078	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355412508 rs1198257978	1097	S>N		No	ClinGen gnomAD
CA2732739 rs750384096	1101	S>A		No	ClinGen ExAC TOPMed gnomAD
CA88867046 rs11559212	1101	S>L		No	ClinGen Ensembl
rs1235704862 CA355412647	1102	G>E		No	ClinGen gnomAD
rs781288612 CA2732741	1103	A>T		No	ClinGen ExAC gnomAD
CA355412704 rs1188506126	1105	P>S		No	ClinGen gnomAD
CA548796080 rs1419404565	1106	S>G		No	ClinGen gnomAD
CA355412796 rs1412041818	1108	A>T		No	ClinGen gnomAD
CA2732767 rs779189041	1111	E>Q		No	ClinGen ExAC gnomAD
rs746360294 CA2732768	1112	A>V		No	ClinGen ExAC gnomAD
CA2732769 rs772663180	1113	A>P		No	ClinGen ExAC gnomAD
rs1351370383 CA355413033	1113	A>V		No	ClinGen gnomAD
rs150054202 CA2732770	1114	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA88867225 rs114237671	1114	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs150054202 CA88867220	1114	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294128201 CA355413063	1115	P>A		No	ClinGen gnomAD
CA355413071 rs1196391163	1115	P>L		No	ClinGen gnomAD
rs1328616238 CA355413091	1116	A>G		No	ClinGen TOPMed
CA88867228 rs954208076	1116	A>T		No	ClinGen Ensembl
rs532220949 CA88867229	1117	T>A		No	ClinGen gnomAD
CA355413101 rs532220949	1117	T>S		No	ClinGen gnomAD
CA355413139 rs1195857332	1118	S>R		No	ClinGen gnomAD
CA2732771 rs200715706	1119	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2732773 rs776340920	1120	L>W		No	ClinGen ExAC gnomAD
CA2732774 rs761411054	1129	A>V		No	ClinGen ExAC gnomAD
rs1325546301 CA355413395	1130	V>L		No	ClinGen gnomAD
CA2732776 rs772941446	1131	P>S		No	ClinGen ExAC gnomAD
CA2732777 rs762768605	1135	T>A		No	ClinGen ExAC gnomAD
CA2732778 rs766238885	1136	D>H		No	ClinGen ExAC gnomAD
rs1439336938 CA355413581	1138	R>K		No	ClinGen gnomAD
rs756207906 CA2732780	1139	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1261240774 CA355413606	1139	R>H		No	ClinGen gnomAD
rs754063701 CA2732782	1140	V>L		No	ClinGen ExAC gnomAD
CA2732783 rs754063701	1140	V>M		No	ClinGen ExAC gnomAD
rs746163870 CA2732785	1141	V>A		No	ClinGen ExAC gnomAD
rs779222762 CA355413639	1141	V>L		No	ClinGen ExAC gnomAD
rs779222762 CA2732784	1141	V>M		No	ClinGen ExAC gnomAD
rs145414660 CA88867291	1142	Q>R		No	ClinGen ESP TOPMed
CA2732811 rs375604272	1148	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749008652 CA2732812	1150	R>G		No	ClinGen ExAC
rs770684503 CA2732813	1150	R>Q		No	ClinGen ExAC gnomAD
CA355413959 rs1285898791	1151	G>D		No	ClinGen TOPMed
CA355413971 rs1312127551	1152	E>K		No	ClinGen gnomAD
CA2732816 rs771868603	1153	K>E		No	ClinGen ExAC gnomAD
rs775506938 CA2732817	1154	A>T		No	ClinGen ExAC gnomAD
rs910035679 CA88867464	1154	A>V		No	ClinGen TOPMed gnomAD
CA2732820 rs761782816	1157	R>G		No	ClinGen ExAC gnomAD
CA355414079 rs1227644750	1157	R>L		No	ClinGen TOPMed gnomAD
CA355414084 rs1253468865	1158	G>R		No	ClinGen gnomAD
rs1425712161 CA355414136	1160	R>C		No	ClinGen TOPMed gnomAD
CA2732822 rs139135683	1160	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425712161 CA355414131	1160	R>S		No	ClinGen TOPMed gnomAD
CA2732823 rs763313612	1161	L>P		No	ClinGen ExAC gnomAD
CA355414157 rs763313612	1161	L>Q		No	ClinGen ExAC gnomAD
rs1165835470 CA355414153	1161	L>V		No	ClinGen gnomAD
rs1158434045 CA355414183	1162	E>D		No	ClinGen TOPMed
rs766729459 CA2732824	1162	E>Q		No	ClinGen ExAC gnomAD
rs755374603 CA2732826	1163	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2732825 rs751830609	1163	R>W		No	ClinGen ExAC TOPMed gnomAD
CA355414230 rs113169049	1164	S>G		No	ClinGen TOPMed gnomAD
rs1472699569 CA355414231	1164	S>N		No	ClinGen TOPMed
rs990783489 CA88867554	1164	S>R		No	ClinGen Ensembl
CA88867551 VAR_066577 rs113169049	1164	S>R	found in a patient with Parkinson disease; unknown pathological significance [UniProt]	No	ClinGen UniProt TOPMed dbSNP gnomAD
rs1577235407 CA355414257	1165	E>Q		No	ClinGen Ensembl
rs753305744 CA2732828	1166	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2732827 rs781494719	1166	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1577235451 CA355414315	1167	G>E		No	ClinGen Ensembl
CA355414312 rs1465933120	1167	G>R		No	ClinGen TOPMed
CA355414391 rs1172998182	1169	D>N		No	ClinGen TOPMed gnomAD
rs755617952 CA2732829	1170	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2732830 rs569779719	1170	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569779719 CA2732831	1170	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755617952 CA355414427	1170	R>S		No	ClinGen ExAC TOPMed gnomAD
CA355414570 rs1382446842	1173	R>L		No	ClinGen TOPMed gnomAD
CA355414559 rs1382446842	1173	R>Q		No	ClinGen TOPMed gnomAD
rs200560380 CA2732832	1173	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1297274326 CA355414610	1174	L>F		No	ClinGen gnomAD
rs1320000563 CA355414657	1175	D>Y		No	ClinGen TOPMed
rs778571078 CA2732833	1176	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2732835 rs778571078	1176	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2732836 rs775282496	1176	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2732837 rs775282496	1176	R>L		No	ClinGen ExAC TOPMed gnomAD
rs778571078 CA2732834	1176	R>S		No	ClinGen ExAC TOPMed gnomAD
rs773375468 CA2732839	1177	A>V		No	ClinGen ExAC TOPMed gnomAD
rs766641567 CA2732841	1178	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2732842 rs751820127	1180	P>S		No	ClinGen ExAC gnomAD
CA2732843 rs200529085	1181	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200529085 CA2732844	1181	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450963820 CA355414843	1181	A>P		No	ClinGen TOPMed
CA355414836 rs1450963820	1181	A>T		No	ClinGen TOPMed
rs753115052 CA2732845	1182	T>A		No	ClinGen ExAC TOPMed gnomAD
rs756664955 CA2732846	1184	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA355414904 rs1488558847	1184	R>W		No	ClinGen TOPMed
rs998357162 CA88867608	1185	S>N		No	ClinGen Ensembl
CA355414958 rs1395409512	1187	S>N		No	ClinGen gnomAD
rs1227634320 CA355415015	1190	V>A		No	ClinGen TOPMed
CA355415008 rs1156766589	1190	V>L		No	ClinGen gnomAD
CA355415031 rs1453842038	1191	E>G		No	ClinGen TOPMed gnomAD
CA355415029 rs1453842038	1191	E>V		No	ClinGen TOPMed gnomAD
rs1297196131 CA355415060	1193	R>Q		No	ClinGen TOPMed
rs369412977 CA2732848	1193	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368302330 CA355415071	1194	S>G		No	ClinGen gnomAD
CA88867618 rs372079421	1194	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA355415066 rs1368302330	1194	S>R		No	ClinGen gnomAD
rs372079421 CA2732849	1194	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs778412142 CA2732850	1195	R>G		No	ClinGen ExAC gnomAD
rs745578162 CA2732851	1196	E>A		No	ClinGen ExAC TOPMed gnomAD
rs745578162 CA2732852	1196	E>G		No	ClinGen ExAC TOPMed gnomAD
CA355415154 rs1317652418	1197	R>L		No	ClinGen TOPMed gnomAD
CA355415151 rs1317652418	1197	R>P		No	ClinGen TOPMed gnomAD
CA355415148 rs1317652418	1197	R>Q		No	ClinGen TOPMed gnomAD
CA2732853 VAR_066578 rs113388242	1197	R>W	found in a patient with Parkinson disease; unknown pathological significance [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA355415161 rs1218012739	1198	P>S		No	ClinGen gnomAD
CA355415194 rs1271548748	1199	S>C		No	ClinGen gnomAD
rs1271548748 CA355415195	1199	S>F		No	ClinGen gnomAD
rs1428263853 CA355415223	1201	P>S		No	ClinGen TOPMed
rs1214495724 CA355415233	1202	E>Q		No	ClinGen TOPMed gnomAD
rs746816180 CA2732854	1203	G>R		No	ClinGen ExAC TOPMed gnomAD
rs760746597 CA2732855	1204	L>P		No	ClinGen ExAC TOPMed gnomAD
rs776741558 CA2732856	1205	R>C		No	ClinGen ExAC TOPMed gnomAD
CA355415284 rs112176450	1205	R>L	Parkinson disease 18 (park18) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1048431806 CA88867659	1206	K>E		No	ClinGen TOPMed gnomAD
CA355415316 rs1160702594	1207	A>T		No	ClinGen gnomAD
rs972888495 CA88867674	1211	T>A		No	ClinGen Ensembl
rs1035604616 CA88867677	1211	T>M		No	ClinGen TOPMed gnomAD
rs960792011 CA88867685	1214	R>G		No	ClinGen TOPMed gnomAD
CA2732860 rs767757704	1214	R>Q		No	ClinGen ExAC gnomAD
rs960792011 CA88867684	1214	R>W		No	ClinGen TOPMed gnomAD
CA355415449 rs1234261105	1215	D>N		No	ClinGen TOPMed
rs201711322 CA2732861	1216	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732862 rs34086109	1216	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355415480 rs1334170439	1217	G>E		No	ClinGen gnomAD
CA88867723 rs138270117	1217	G>R		No	ClinGen ESP TOPMed gnomAD
rs756733625 CA2732865	1218	R>Q		No	ClinGen ExAC gnomAD
CA2732864 rs570589392	1218	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139196308 CA2732867	1220	A>V		No	ClinGen 1000Genomes ExAC TOPMed
CA2732869 rs779579910	1221	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1474235207 CA355415689	1223	R>Q		No	ClinGen gnomAD
rs766008430 CA2732889	1225	A>G		No	ClinGen ExAC gnomAD
CA355415766 rs765024418	1228	P>A		No	ClinGen ExAC gnomAD
CA355415771 rs781199378	1228	P>H		No	ClinGen ExAC gnomAD
CA2732892 rs781199378	1228	P>L		No	ClinGen ExAC gnomAD
CA2732891 rs765024418	1228	P>S		No	ClinGen ExAC gnomAD
CA88867852 rs765024418	1228	P>T		No	ClinGen ExAC gnomAD
VAR_061148 CA2732893 RCV000969776 rs35629949	1229	P>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355415789 rs1323519130	1229	P>L		No	ClinGen Ensembl
rs35629949 CA2732894	1229	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35629949 CA88867878	1229	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777574700 CA2732895	1230	V>A		No	ClinGen ExAC TOPMed gnomAD
CA355415794 rs1214562703	1230	V>M		No	ClinGen Ensembl
rs745917508 CA2732896	1232	P>A		No	ClinGen ExAC gnomAD
CA2732899 rs780223766	1233	L>M		No	ClinGen ExAC gnomAD
VAR_055705 CA2732900 rs2230570	1233	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2732901 rs199929867	1235	A>V		No	ClinGen ExAC TOPMed gnomAD
CA355415919 rs1181504625	1236	A>P		No	ClinGen TOPMed
rs1465469222 CA355415961	1237	L>R		No	ClinGen TOPMed
rs1444706630 CA355415972	1238	S>F		No	ClinGen gnomAD
CA2732905 rs773615250	1239	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2732906 rs762503348	1241	E>Q		No	ClinGen ExAC gnomAD
rs1451766853 CA355416101	1245	K>R		No	ClinGen gnomAD
rs751252151 CA2732908	1247	K>E		No	ClinGen ExAC TOPMed gnomAD
CA88867931 rs373662190	1247	K>R		No	ClinGen ESP
rs912051185 CA88867934	1249	I>V		No	ClinGen TOPMed
rs767290309 CA2732910	1250	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2732909 rs573974788	1250	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355416265 rs1382971866	1254	L>F		No	ClinGen gnomAD
rs752470634 CA2732911	1255	H>Y		No	ClinGen ExAC gnomAD
CA355416301 rs1365406644	1256	L>F		No	ClinGen TOPMed
CA88867949 rs1035168505	1257	N>D		No	ClinGen TOPMed
VAR_066580 CA2732913 rs73053766	1257	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA88867953 rs990888022	1259	M>T		No	ClinGen TOPMed
rs753764322 CA2732914	1259	M>V		No	ClinGen ExAC gnomAD
rs1469231758 CA355416523	1263	V>F		No	ClinGen gnomAD
CA88868090 rs896343202	1266	V>M		No	ClinGen TOPMed gnomAD
rs1225745563 CA355416638	1270	A>V		No	ClinGen TOPMed
rs1338290712 CA355416673	1273	S>T		No	ClinGen TOPMed
rs376228156 CA2732937	1280	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1577239026 CA355416826	1281	H>L		No	ClinGen Ensembl
CA355416851 rs1577239048	1283	V>I		No	ClinGen Ensembl
CA2732938 rs755074409	1284	E>Q		No	ClinGen ExAC gnomAD
rs781371449 CA2732939	1286	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1023578171 CA88868144	1289	R>C		No	ClinGen TOPMed gnomAD
CA2732941 rs778135884	1289	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2732942 rs778056309	1290	S>G		No	ClinGen ExAC gnomAD
CA2732943 rs749674981	1290	S>I		No	ClinGen ExAC gnomAD
CA2732944 rs201890970	1291	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs201890970 CA355417008	1291	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2732946 rs745320557	1293	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1196953103 CA355417046	1293	A>V		No	ClinGen gnomAD
rs771753208 CA2732947	1294	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1428683814 CA355417054	1294	R>H		No	ClinGen TOPMed
CA355417068 rs1187270334	1295	E>G		No	ClinGen gnomAD
rs1183546711 CA355417158	1302	H>Y		No	ClinGen TOPMed
rs973703856 CA88868163	1305	L>F		No	ClinGen TOPMed
rs1371194656 CA355417272	1308	G>E		No	ClinGen gnomAD
CA355417276 rs1371194656	1308	G>V		No	ClinGen gnomAD
CA2732951 rs370626247	1311	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs144570332 CA2732952	1312	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1432744060 CA355417366	1312	T>I		No	ClinGen TOPMed gnomAD
CA2732953 rs765111340	1313	A>T		No	ClinGen ExAC gnomAD
CA355417401 rs1292987388	1314	Q>H		No	ClinGen gnomAD
CA355417399 rs1292987388	1314	Q>H		No	ClinGen gnomAD
CA2732954 rs750411253	1314	Q>K		No	ClinGen ExAC gnomAD
rs780644242 CA2732983	1321	E>A		No	ClinGen ExAC gnomAD
rs1271544066 CA355419066	1321	E>D		No	ClinGen TOPMed
rs758913160 CA2732982	1321	E>K		No	ClinGen ExAC TOPMed gnomAD
CA355419086 rs1224676582	1322	I>M		No	ClinGen TOPMed
rs768262673 CA88869528	1328	D>E		No	ClinGen ExAC gnomAD
CA2732987 rs562217523	1329	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2732986 rs112809828	1329	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1560227424 CA355419340	1335	H>D		No	ClinGen Ensembl
rs1322133627 CA355419349	1336	V>M		No	ClinGen TOPMed gnomAD
rs1392814166 CA355419372	1338	L>P		No	ClinGen gnomAD
rs1560227466 CA355419375	1339	Y>N		No	ClinGen Ensembl
CA88869546 rs11559216	1341	A>P		No	ClinGen Ensembl
CA355419423 rs1370405698	1343	L>V		No	ClinGen gnomAD
rs1398957369 CA355419450	1347	I>S		No	ClinGen TOPMed
rs1430682656 CA355419446	1347	I>V		No	ClinGen TOPMed
CA2732992 rs765574482	1349	Q>R		No	ClinGen ExAC gnomAD
CA88869554 rs1008164990	1351	G>S		No	ClinGen TOPMed
rs760646808 CA355419484	1353	V>L		No	ClinGen ExAC TOPMed
CA2732993 rs760646808	1353	V>M		No	ClinGen ExAC TOPMed
CA2732996 rs145975905	1355	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs145975905 CA2732997	1355	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732995 rs144059151	1355	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2732994 rs764271258	1355	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2732999 rs758815261	1357	E>G		No	ClinGen ExAC gnomAD
CA355419524 rs1489435691	1359	F>L		No	ClinGen gnomAD
rs139793721 CA2733000	1360	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1415299799 CA355419613	1363	T>I		No	ClinGen gnomAD
CA88869728 rs958511083	1366	L>R		No	ClinGen Ensembl
rs1371675466 CA355419673	1367	R>T		No	ClinGen TOPMed gnomAD
CA2733018 rs142064428	1368	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2733017 rs763197932	1368	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1286165921 CA355419691	1369	L>F		No	ClinGen TOPMed gnomAD
CA355419720 rs1381137217	1371	K>N		No	ClinGen gnomAD
rs752163234 CA2733022	1373	A>P		No	ClinGen ExAC
rs756995137 CA2733026	1377	L>Q		No	ClinGen ExAC gnomAD
rs1338923651 CA355419898	1382	L>P		No	ClinGen TOPMed
rs1238818437 CA355419955	1386	S>N		No	ClinGen gnomAD
CA2733029 rs772010152	1387	M>V		No	ClinGen ExAC gnomAD
CA88871366 rs1030062645	1388	G>A		No	ClinGen TOPMed gnomAD
rs1446992785 CA355421980	1388	G>R		No	ClinGen TOPMed
CA2733046 rs745629421	1390	K>E		No	ClinGen ExAC TOPMed gnomAD
rs551847803 CA88871369	1390	K>I		No	ClinGen gnomAD
rs551847803 CA355422050	1390	K>R		No	ClinGen gnomAD
rs1405815434 CA355422106	1391	K>M		No	ClinGen gnomAD
CA2733047 rs758322346	1391	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1321469704 CA355422148	1393	G>R		No	ClinGen TOPMed gnomAD
CA2733049 rs112441721	1394	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA355422187 rs1426032500	1394	T>P		No	ClinGen TOPMed
CA88871399 rs958925559	1397	R>Q		No	ClinGen TOPMed gnomAD
CA355422359 rs774457232	1400	G>E		No	ClinGen ExAC gnomAD
CA2733053 rs149821418	1400	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774457232 CA2733054	1400	G>V		No	ClinGen ExAC gnomAD
CA88871403 rs149821418	1400	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759922425 CA2733055	1404	K>E		No	ClinGen ExAC gnomAD
CA88871413 rs947617837	1406	F>L		No	ClinGen Ensembl
rs1268346170 CA355422543	1408	P>R		No	ClinGen gnomAD
CA2733057 rs141776790	1409	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs370451493 CA2733058	1410	G>V		No	ClinGen ESP ExAC gnomAD
rs924661722 CA88871427	1411	Q>E		No	ClinGen Ensembl
CA2733060 rs753319824	1413	I>T		No	ClinGen ExAC gnomAD
CA2733059 rs764595200	1413	I>V		No	ClinGen ExAC TOPMed gnomAD
rs761253837 CA2733061	1414	G>S		No	ClinGen ExAC gnomAD
rs764923473 CA2733062	1415	A>T		No	ClinGen ExAC gnomAD
CA355422740 rs1472299805	1416	F>S		No	ClinGen gnomAD
CA355422738 rs1472299805	1416	F>Y		No	ClinGen gnomAD
rs758267267 CA2733064	1417	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2733067 rs754898674	1418	A>D		No	ClinGen ExAC gnomAD
rs368372465 CA2733066	1418	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs372369908 CA2733068	1419	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs770965114 CA2733070	1420	Q>E		No	ClinGen ExAC gnomAD
CA355423068 rs1341500524	1422	V>M		No	ClinGen gnomAD
rs958432194 CA88871588	1426	L>R		No	ClinGen TOPMed gnomAD
CA88871579 rs1035340940	1426	L>V		No	ClinGen gnomAD
rs1325849818 CA355423152	1427	G>E		No	ClinGen TOPMed
CA2733091 rs375395016	1430	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484728257 CA355423230	1431	E>G		No	ClinGen gnomAD
CA2733093 rs747354650	1432	A>T		No	ClinGen ExAC gnomAD
CA88871600 rs147696097	1433	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425741300 CA355423252	1433	P>L		No	ClinGen gnomAD
rs147696097 CA2733094	1433	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777194473 CA2733095	1434	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1388029496 CA355423346	1437	A>V		No	ClinGen gnomAD
rs545768471 CA2733096	1438	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2733098 rs772781836	1440	S>F		No	ClinGen ExAC TOPMed gnomAD
CA355423417 rs1301933878	1441	E>K		No	ClinGen TOPMed gnomAD
CA355423553 rs1259899394	1446	Q>R		No	ClinGen TOPMed
rs1577257428 CA355423657	1451	L>R		No	ClinGen Ensembl
rs1402504617 CA355423695	1453	E>A		No	ClinGen gnomAD
rs774194565 CA2733101	1453	E>D		No	ClinGen ExAC gnomAD
CA2733100 rs766081630	1453	E>K		No	ClinGen ExAC
rs1318974299 CA355423742	1455	S>N		No	ClinGen gnomAD
CA2733105 rs369679218	1459	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2733104 rs369679218	1459	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564880447 CA2733103	1459	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355423837 rs1577257516	1460	V>G		No	ClinGen Ensembl
CA355423827 rs764094379	1460	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2733106 rs764094379	1460	V>M		No	ClinGen ExAC TOPMed gnomAD
rs111921843 CA355423852	1461	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1560231808 CA355423863	1462	D>N		No	ClinGen Ensembl
CA355423920 rs1203548801	1464	I>L		No	ClinGen gnomAD
rs1577257620 CA355423931	1464	I>R		No	ClinGen Ensembl
rs1203548801 CA355423918	1464	I>V		No	ClinGen gnomAD
rs1409757503 CA355423964	1465	E>D		No	ClinGen TOPMed
rs1329906906 CA355423954	1465	E>V		No	ClinGen TOPMed
rs148270724 CA2733139	1466	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA355424108 rs1220815976	1466	A>V		No	ClinGen gnomAD
CA355424142 rs1419790255	1468	L>V		No	ClinGen TOPMed
CA355424286 rs1179430063	1473	I>M		No	ClinGen gnomAD
CA355424351 rs1250352569	1476	N>D		No	ClinGen gnomAD
CA88871812 rs967635382	1476	N>S		No	ClinGen TOPMed gnomAD
rs141379472 CA2733142	1477	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771582218 CA2733145	1479	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2733146 rs114320039	1480	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA88871824 rs1035696938	1481	A>V		No	ClinGen TOPMed
CA2733147 rs377408315	1484	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs768508010 CA2733148	1485	A>V		No	ClinGen ExAC gnomAD
rs1411978514 CA355424648	1486	V>A		No	ClinGen TOPMed gnomAD
rs1560232319 CA355424631	1486	V>I		No	ClinGen Ensembl
rs776540200 CA355424650	1487	C>G		No	ClinGen ExAC TOPMed gnomAD
CA2733149 rs776540200	1487	C>S		No	ClinGen ExAC TOPMed gnomAD
rs765164341 CA2733151	1488	Y>H		No	ClinGen ExAC gnomAD
CA355424685 rs1357735816	1488	Y>S		No	ClinGen TOPMed
rs759685710 CA355424733	1489	S>C		No	ClinGen ExAC TOPMed gnomAD
rs759685710 CA2733153	1489	S>F		No	ClinGen ExAC TOPMed gnomAD
CA355424732 rs759685710	1489	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs753002754 CA2733155	1491	I>V		No	ClinGen ExAC gnomAD
CA355424772 rs1355156719	1492	I>T		No	ClinGen TOPMed
rs764411662 CA2733178	1493	F>S		No	ClinGen ExAC gnomAD
rs1459776731 CA355424967	1494	E>D		No	ClinGen TOPMed
CA2733179 rs202023726	1495	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2733180 rs564053526	1496	P>S		No	ClinGen ExAC gnomAD
rs751008945 CA2733182	1498	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA88872050 rs145427625	1500	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA355425166 rs1365874106	1501	V>I		No	ClinGen gnomAD
CA2733187 rs780846755	1502	A>V		No	ClinGen ExAC gnomAD
CA355425248 rs1219502808	1503	V>G		No	ClinGen gnomAD
rs1343665571 CA355425236	1503	V>M		No	ClinGen gnomAD
rs773017694 CA355425328	1506	A>E		No	ClinGen ExAC TOPMed gnomAD
rs374327061 CA2733189	1506	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2733190 rs773017694	1506	A>V		No	ClinGen ExAC TOPMed gnomAD
rs775572403 CA2733193	1508	A>G		No	ClinGen ExAC TOPMed gnomAD
rs775572403 CA355425388	1508	A>V		No	ClinGen ExAC TOPMed gnomAD
CA355425567 rs1577260272	1516	C>S		No	ClinGen Ensembl
rs11559218 CA355425631	1517	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199729630 CA2733199	1518	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA88872103 rs747065266	1521	E>V		No	ClinGen Ensembl
rs371718616 CA2733204	1526	Y>C		No	ClinGen ESP ExAC gnomAD
rs1227335260 CA355425906	1527	A>T		No	ClinGen TOPMed gnomAD
CA88872163 rs958736570	1530	A>G		No	ClinGen TOPMed gnomAD
CA355425998 rs958736570	1530	A>V		No	ClinGen TOPMed gnomAD
rs541857236 CA88872167	1532	V>A		No	ClinGen Ensembl
CA2733207 rs777565228	1532	V>L		No	ClinGen ExAC TOPMed gnomAD
rs749041499 CA2733208	1533	V>L		No	ClinGen ExAC gnomAD
rs1327224772 CA355426124	1534	T>N		No	ClinGen gnomAD
rs1553850733 CA355426218	1537	Q>E		No	ClinGen Ensembl
rs774175060 CA2733210	1538	P>H		No	ClinGen ExAC gnomAD
rs781358151 CA2733232	1541	L>P		No	ClinGen ExAC gnomAD
rs933283086 CA88873751	1544	M>V		No	ClinGen gnomAD
rs1333924370 CA355428742	1548	A>S		No	ClinGen TOPMed gnomAD
CA355428732 rs1333924370	1548	A>T		No	ClinGen TOPMed gnomAD
rs774829113 CA2733238	1552	E>K		No	ClinGen ExAC TOPMed gnomAD
rs891018679 CA88873789	1553	D>N		No	ClinGen Ensembl
rs752159214 CA2733241	1554	V>A		No	ClinGen ExAC TOPMed gnomAD
rs768015986 CA355428958	1554	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768015986 CA2733240	1554	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2733242 rs200936631	1555	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1553851264 CA355429028	1557	E>K		No	ClinGen Ensembl
CA88873820 rs1039522802	1559	A>V		No	ClinGen TOPMed gnomAD
rs1246149510 CA355429218	1563	W>C		No	ClinGen gnomAD
rs763780258 CA2733243	1566	S>R		No	ClinGen ExAC gnomAD
rs1170547054 CA355429410	1569	P>T		No	ClinGen gnomAD
CA355429424 rs1464287573	1570	A>T		No	ClinGen gnomAD
rs144462594 CA2733245	1570	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355429508 rs1419964830	1576	G>S		No	ClinGen TOPMed
CA355429632 rs1577274829	1581	S>C		No	ClinGen Ensembl
CA88873841 rs995248018	1582	V>G		No	ClinGen Ensembl
CA2733247 rs750250050	1582	V>I		No	ClinGen ExAC gnomAD
CA2733248 rs557581633	1584	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1577274914 CA355429735	1587	K>N		No	ClinGen Ensembl
CA2733251 rs543783675	1590	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs368905307 CA2733253	1590	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2733252 rs543783675	1590	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA88873846 rs902051947	1592	A>E		No	ClinGen TOPMed gnomAD
CA355429831 rs902051947	1592	A>V		No	ClinGen TOPMed gnomAD
CA88873851 rs777103280	1593	E>Q		No	ClinGen gnomAD
rs759921895 CA2733256	1595	E>*		No	ClinGen ExAC TOPMed gnomAD
rs772515003 CA2733257	1595	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1429598116 CA355429909	1595	E>D		No	ClinGen gnomAD
rs1391587400 CA355429950	1597	D>H		No	ClinGen gnomAD
CA355429990 rs1470725487	1598	H>R		No	ClinGen gnomAD
rs1157422646 CA355430017	1599	N>S		No	ClinGen gnomAD

1 associated diseases with Q04637

[MIM: 614251]: Parkinson disease 18 (PARK18)

An autosomal dominant, late-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. {ECO:0000269|PubMed:21907011}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant, late-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. {ECO:0000269|PubMed:21907011}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q04637

Type	Name	Position	InterPro Accession
domain	W2 domain	1433 - 1599	IPR003307
domain	MIF4G-like, type 3	761 - 989	IPR003890
domain	Initiation factor eIF-4 gamma, MA3	1241 - 1363	IPR003891

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus Cytoplasm, Stress granule
PANTHER Family	PTHR23253	EUKARYOTIC TRANSLATION INITIATION FACTOR 4 GAMMA
PANTHER Subfamily	PTHR23253:SF10	EUKARYOTIC TRANSLATION INITIATION FACTOR 4 GAMMA 1
PANTHER Protein Class	translation initiation factor translation factor translational protein
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
eukaryotic translation initiation factor 4F complex	The eukaryotic translation initiation factor 4F complex is composed of eIF4E, eIF4A and eIF4G; it is involved in the recognition of the mRNA cap, ATP-dependent unwinding of the 5'-terminal secondary structure and recruitment of the mRNA to the ribosome.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
polysome	A multiribosomal structure representing a linear array of ribosomes held together by messenger RNA. They represent the active complexes in cellular protein synthesis and are able to incorporate amino acids into polypeptides both in vivo and in vitro.

9 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
eukaryotic initiation factor 4E binding	Binding to eukaryotic initiation factor 4E, a polypeptide factor involved in the initiation of ribosome-mediated translation.
identical protein binding	Binding to an identical protein or proteins.
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA binding	Binding to an RNA molecule or a portion thereof.
translation factor activity, RNA binding	Functions during translation by binding to RNA during polypeptide synthesis at the ribosome.
translation initiation factor activity	Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide.
translation initiation factor binding	Binding to a translation initiation factor, any polypeptide factor involved in the initiation of ribosome-mediated translation.

25 GO annotations of biological process

Name	Definition
behavioral fear response	An acute behavioral change resulting from a perceived external threat.
cap-dependent translational initiation	The process where the cap structure, composed of a 7- methylguanosine (m7G) group and associated cap-binding proteins, located at the 5' end of an mRNA molecule, which serves as a molecular tag that marks the spot where the 40S ribosomal subunit, is recruited and will then scan in a 5' to 3' direction until an AUG codon is encountered in an appropriate sequence context to initiate mRNA translation.
cellular macromolecule biosynthetic process	The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells.
cellular response to nutrient levels	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.
developmental process	A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition.
energy homeostasis	Any process involved in the balance between food intake (energy input) and energy expenditure.
negative regulation of autophagy	Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
negative regulation of neuron death	Any process that stops, prevents or reduces the frequency, rate or extent of neuron death.
negative regulation of peptidyl-threonine phosphorylation	Any process that decreases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of cell death	Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of eukaryotic translation initiation factor 4F complex assembly	Any process that activates or increases the frequency, rate or extent of eukaryotic translation initiation factor 4F complex assembly.
positive regulation of G1/S transition of mitotic cell cycle	Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
positive regulation of miRNA mediated inhibition of translation	OBSOLETE. Any process that activates or increases the frequency, rate or extent of miRNA-mediated gene silencing by inhibition of translation.
positive regulation of mRNA cap binding	Any process that activates or increases the frequency, rate or extent of mRNA cap binding.
positive regulation of neuron differentiation	Any process that activates or increases the frequency, rate or extent of neuron differentiation.
positive regulation of peptidyl-serine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of translation in response to endoplasmic reticulum stress	Any process that activates, or increases the frequency, rate or extent of translation as a result of endoplasmic reticulum stress.
regulation of cellular response to stress	Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
regulation of gene silencing by miRNA	A process that modulates the rate, frequency, or extent of the downregulation of gene expression through the action of microRNAs (miRNAs).
regulation of polysome binding	Any process that modulates the frequency, rate or extent of polysome binding.
regulation of presynapse assembly	Any process that modulates the frequency, rate or extent of presynapse assembly.
regulation of translational initiation	Any process that modulates the frequency, rate or extent of translational initiation.
translation	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.
translational initiation	The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q41583		Eukaryotic translation initiation factor isoform 4G-2	Triticum aestivum (Wheat)	PR
Q95L46	EIF4G2	Eukaryotic translation initiation factor 4 gamma 2	Bos taurus (Bovine)	PR
Q9H074	PAIP1	Polyadenylate-binding protein-interacting protein 1	Homo sapiens (Human)	PR
P78344	EIF4G2	Eukaryotic translation initiation factor 4 gamma 2	Homo sapiens (Human)	PR
O43432	EIF4G3	Eukaryotic translation initiation factor 4 gamma 3	Homo sapiens (Human)	EV
Q8VE62	Paip1	Polyadenylate-binding protein-interacting protein 1	Mus musculus (Mouse)	PR
Q80XI3	Eif4g3	Eukaryotic translation initiation factor 4 gamma 3	Mus musculus (Mouse)	SS
Q62448	Eif4g2	Eukaryotic translation initiation factor 4 gamma 2	Mus musculus (Mouse)	PR
Q6NZJ6	Eif4g1	Eukaryotic translation initiation factor 4 gamma 1	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MNKAPQSTGP	PPAPSPGLPQ	PAFPPGQTAP	VVFSTPQATQ	MNTPSQPRQH	FYPSRAQPPS
70	80	90	100	110	120
SAASRVQSAA	PARPGPAAHV	YPAGSQVMMI	PSQISYPASQ	GAYYIPGQGR	STYVVPTQQY
130	140	150	160	170	180
PVQPGAPGFY	PGASPTEFGT	YAGAYYPAQG	VQQFPTGVAP	TPVLMNQPPQ	IAPKRERKTI
190	200	210	220	230	240
RIRDPNQGGK	DITEEIMSGA	RTASTPTPPQ	TGGGLEPQAN	GETPQVAVIV	RPDDRSQGAI
250	260	270	280	290	300
IADRPGLPGP	EHSPSESQPS	SPSPTPSPSP	VLEPGSEPNL	AVLSIPGDTM	TTIQMSVEES
310	320	330	340	350	360
TPISRETGEP	YRLSPEPTPL	AEPILEVEVT	LSKPVPESEF	SSSPLQAPTP	LASHTVEIHE
370	380	390	400	410	420
PNGMVPSEDL	EPEVESSPEL	APPPACPSES	PVPIAPTAQP	EELLNGAPSP	PAVDLSPVSE
430	440	450	460	470	480
PEEQAKEVTA	SMAPPTIPSA	TPATAPSATS	PAQEEEMEEE	EEEEEGEAGE	AGEAESEKGG
490	500	510	520	530	540
EELLPPESTP	IPANLSQNLE	AAAATQVAVS	VPKRRRKIKE	LNKKEAVGDL	LDAFKEANPA
550	560	570	580	590	600
VPEVENQPPA	GSNPGPESEG	SGVPPRPEEA	DETWDSKEDK	IHNAENIQPG	EQKYEYKSDQ
610	620	630	640	650	660
WKPLNLEEKK	RYDREFLLGF	QFIFASMQKP	EGLPHISDVV	LDKANKTPLR	PLDPTRLQGI
670	680	690	700	710	720
NCGPDFTPSF	ANLGRTTLST	RGPPRGGPGG	ELPRGPAGLG	PRRSQQGPRK	EPRKIIATVL
730	740	750	760	770	780
MTEDIKLNKA	EKAWKPSSKR	TAADKDRGEE	DADGSKTQDL	FRRVRSILNK	LTPQMFQQLM
790	800	810	820	830	840
KQVTQLAIDT	EERLKGVIDL	IFEKAISEPN	FSVAYANMCR	CLMALKVPTT	EKPTVTVNFR
850	860	870	880	890	900
KLLLNRCQKE	FEKDKDDDEV	FEKKQKEMDE	AATAEERGRL	KEELEEARDI	ARRRSLGNIK
910	920	930	940	950	960
FIGELFKLKM	LTEAIMHDCV	VKLLKNHDEE	SLECLCRLLT	TIGKDLDFEK	AKPRMDQYFN
970	980	990	1000	1010	1020
QMEKIIKEKK	TSSRIRFMLQ	DVLDLRGSNW	VPRRGDQGPK	TIDQIHKEAE	MEEHREHIKV
1030	1040	1050	1060	1070	1080
QQLMAKGSDK	RRGGPPGPPI	SRGLPLVDDG	GWNTVPISKG	SRPIDTSRLT	KITKPGSIDS
1090	1100	1110	1120	1130	1140
NNQLFAPGGR	LSWGKGSSGG	SGAKPSDAAS	EAARPATSTL	NRFSALQQAV	PTESTDNRRV
1150	1160	1170	1180	1190	1200
VQRSSLSRER	GEKAGDRGDR	LERSERGGDR	GDRLDRARTP	ATKRSFSKEV	EERSRERPSQ
1210	1220	1230	1240	1250	1260
PEGLRKAASL	TEDRDRGRDA	VKREAALPPV	SPLKAALSEE	ELEKKSKAII	EEYLHLNDMK
1270	1280	1290	1300	1310	1320
EAVQCVQELA	SPSLLFIFVR	HGVESTLERS	AIAREHMGQL	LHQLLCAGHL	STAQYYQGLY
1330	1340	1350	1360	1370	1380
EILELAEDME	IDIPHVWLYL	AELVTPILQE	GGVPMGELFR	EITKPLRPLG	KAASLLLEIL
1390	1400	1410	1420	1430	1440
GLLCKSMGPK	KVGTLWREAG	LSWKEFLPEG	QDIGAFVAEQ	KVEYTLGEES	EAPGQRALPS
1450	1460	1470	1480	1490	1500
EELNRQLEKL	LKEGSSNQRV	FDWIEANLSE	QQIVSNTLVR	ALMTAVCYSA	IIFETPLRVD
1510	1520	1530	1540	1550	1560
VAVLKARAKL	LQKYLCDEQK	ELQALYALQA	LVVTLEQPPN	LLRMFFDALY	DEDVVKEDAF
1570	1580	1590
YSWESSKDPA	EQQGKGVALK	SVTAFFKWLR	EAEEESDHN