AiPD: Autoinhibited Protein Database

Q9Y4G6

Gene name	TLN2 (KIAA0320)
Protein name	Talin-2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:83660
EC number
Protein Class

Descriptions

Talin-2, a FERM domain-containing protein, forms a direct link between integrin adhesion receptors and the actin cytoskeleton and is an important regulator of integrin function. In human Talin-1 (Q9Y490), the PTB domain within F3 (FERM) domain is responsible for binding to integrin. A segment in the C-terminal rod domain (Talin-R) interacts with the F3 domain for autoinhibition.

Autoinhibitory domains (AIDs)

1656-2345 (C-terminal rod domain) SS

Target domain	88-406 (FERM domain)
Relief mechanism	Ligand binding
Assay

AID

1656-2345 (C-terminal rod domain)

Target domain

88-406 (FERM domain)

Relief mechanism

Ligand binding (Binding of phosphatidylinositol 4,5-bisphosphate to FERM domain)

Assay

Accessory elements

No accessory elements

References

Goksoy E et al. (2008) "Structural basis for the autoinhibition of talin in regulating integrin activation", Molecular cell, 31, 124-33

Goult BT et al. (2009) "The structure of an interdomain complex that regulates talin activity", The Journal of biological chemistry, 284, 15097-106

Haage A et al. (2020) "Precise coordination of cell-ECM adhesion is essential for efficient melanoblast migration during development", Development (Cambridge, England), 147,

Song X et al. (2012) "A novel membrane-dependent on/off switch mechanism of talin FERM domain at sites of cell adhesion", Cell research, 22, 1533-45

Zeng Y et al. (2015) "The conformational states of talin autoinhibition complex and its activation under forces", Science China. Life sciences, 58, 694-703

Kopp PM et al. (2010) "Studies on the morphology and spreading of human endothelial cells define key inter- and intramolecular interactions for talin1", European journal of cell biology, 89, 661-73

Liao Z et al. (2021) "Optogenetics-based localization of talin to the plasma membrane promotes activation of β3 integrins", The Journal of biological chemistry, 296, 100675

Zhang H et al. (2016) "Structural and Functional Analysis of a Talin Triple-Domain Module Suggests an Alternative Talin Autoinhibitory Configuration", Structure (London, England : 1993), 24, 721-729

Autoinhibited structure

Activated structure

2 structures for Q9Y4G6

Entry ID	Method	Resolution	Chain	Position	Source
6U4K	X-ray	256 A	A	1-403	PDB
AF-Q9Y4G6-F1	Predicted				AlphaFoldDB

2048 variants for Q9Y4G6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs372931716 CA7598340	3	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758960977 CA7598341	4	L>P		No	ClinGen ExAC gnomAD
CA392696008 rs1488262238	8	I>T		No	ClinGen TOPMed
rs763916983 CA7598343	8	I>V		No	ClinGen ExAC gnomAD
rs753752860 CA7598344	9	C>Y		No	ClinGen ExAC gnomAD
CA7598346 rs771261514	11	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7598347 rs745341172	11	R>H		No	ClinGen ExAC gnomAD
CA392696079 rs1290084931	12	H>Y		No	ClinGen TOPMed gnomAD
rs1178050378 CA392696156	15	V>M		No	ClinGen TOPMed gnomAD
CA392696198 rs1417470391	17	K>N		No	ClinGen gnomAD
CA7598350 rs746594719	18	T>I		No	ClinGen ExAC TOPMed gnomAD
CA392696218 rs1283559514	19	M>V		No	ClinGen TOPMed
rs1262140430 CA392696240	20	Q>P		No	ClinGen TOPMed gnomAD
rs1262140430 RCV000995371 CA392696242	20	Q>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA7598352 rs368066703	24	S>F		No	ClinGen ESP ExAC gnomAD
CA392696338 rs1443954638	24	S>P		No	ClinGen gnomAD
rs774879092 CA7598355	25	T>I		No	ClinGen ExAC gnomAD
CA7598356 rs759982549	26	A>V		No	ClinGen ExAC TOPMed gnomAD
rs775718505 CA7598358	27	V>A		No	ClinGen ExAC TOPMed gnomAD
rs201936321 CA271958996	29	D>H		No	ClinGen Ensembl
CA7598360 rs182556346	30	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7598362 rs757119282	31	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs764974667 CA7598363	32	R>G		No	ClinGen ExAC TOPMed gnomAD
rs554667095 CA271959029	32	R>L		No	ClinGen ExAC gnomAD
CA7598364 rs554667095	32	R>Q		No	ClinGen ExAC gnomAD
CA392696545 rs1251039802	34	I>V		No	ClinGen gnomAD
CA7598366 rs371919183	35	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs539152254 CA7598365	35	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746576084 CA392696587	37	R>L		No	ClinGen ExAC gnomAD
rs746576084 CA7598367	37	R>Q		No	ClinGen ExAC gnomAD
rs62004575 CA271959070	37	R>W		No	ClinGen gnomAD
rs780862989 CA7598369	45	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1176786537 CA392696806	47	S>A		No	ClinGen gnomAD
CA7598386 rs780701996	47	S>F		No	ClinGen ExAC gnomAD
CA392696844 rs1353763951	50	G>R		No	ClinGen TOPMed
rs986975784 CA271961216	51	L>V		No	ClinGen Ensembl
CA7598387 rs752336441	52	F>L		No	ClinGen ExAC gnomAD
CA392696879 rs1160668837	53	L>F		No	ClinGen gnomAD
rs1345212663 CA392696887	53	L>R		No	ClinGen gnomAD
CA392696883 rs1160668837	53	L>V		No	ClinGen gnomAD
rs755727198 CA7598388	54	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1288768426 CA392696909	55	D>V		No	ClinGen gnomAD
rs376567599 CA7598390	57	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598389 rs376567599	57	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598392 rs780749413	58	P>L		No	ClinGen ExAC gnomAD
CA7598391 rs368922521	58	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1252022074 CA392697013	64	L>Q		No	ClinGen TOPMed
CA7598395 rs143610133	66	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140857185 CA7598394	66	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143610133 CA7598396	66	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1215040697 CA392697033	67	G>S		No	ClinGen gnomAD
CA392697083 rs1490797620	71	D>E		No	ClinGen gnomAD
CA392697129 rs1199882087	75	L>V		No	ClinGen gnomAD
CA271961320 rs938734467	76	R>Q		No	ClinGen gnomAD
rs200339401 CA271963127	79	D>G		No	ClinGen Ensembl
CA392697857 rs1314268954	80	I>N		No	ClinGen gnomAD
rs1314268954 CA392697859	80	I>T		No	ClinGen gnomAD
CA392697924 rs1567267208	83	Y>S		No	ClinGen Ensembl
CA392697951 rs1354069914	84	K>R		No	ClinGen gnomAD
rs1381191289 CA392697970	85	K>R		No	ClinGen TOPMed
CA392698018 rs1273367758	87	Q>*		No	ClinGen gnomAD
rs1436878029 CA392698024	87	Q>H		No	ClinGen gnomAD
rs1196323119 CA392698049	89	P>T		No	ClinGen gnomAD
rs147199264 CA392698132	93	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598419 rs759466153	93	R>Q		No	ClinGen ExAC gnomAD
CA7598418 rs147199264	93	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598421 rs775044605	94	M>I		No	ClinGen ExAC gnomAD
CA271963167 rs949834478	99	V>L		No	ClinGen Ensembl
rs763694441 CA7598423	101	T>I		No	ClinGen ExAC gnomAD
CA7598424 rs753494243	103	M>I		No	ClinGen ExAC gnomAD
CA392698367 rs1329530399	103	M>R		No	ClinGen gnomAD
CA392698386 rs1177243915	104	V>A		No	ClinGen TOPMed gnomAD
CA392698515 rs1338633435	110	V>M		No	ClinGen gnomAD
rs1036086132 CA271963218	111	G>E		No	ClinGen gnomAD
CA392698541 rs1338468482	112	E>Q		No	ClinGen gnomAD
rs756097905 CA7598431	116	T>I		No	ClinGen ExAC gnomAD
rs930457718 CA271963257	117	I>N		No	ClinGen TOPMed
rs867262357 CA271963264	121	I>M		No	ClinGen Ensembl
CA392698821 rs1416539878	121	I>T		No	ClinGen TOPMed
rs1253767261 CA392699037	122	G>A		No	ClinGen gnomAD
rs929486063 CA271964186	123	I>L		No	ClinGen TOPMed gnomAD
rs576244868 CA7598443	123	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7598444 rs751939066	124	T>A		No	ClinGen ExAC gnomAD
CA392699079 rs1281543256	124	T>I		No	ClinGen gnomAD
rs755254947 CA7598445	126	Y>S		No	ClinGen ExAC gnomAD
CA7598446 rs767945626	127	E>D		No	ClinGen ExAC gnomAD
rs1030476866 CA271964222	129	Y>C		No	ClinGen Ensembl
CA7598447 rs370300510	129	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA392699207 rs1271425516	130	S>F		No	ClinGen gnomAD
rs1391610769 CA392699242	132	I>T		No	ClinGen TOPMed
CA7598448 rs771777693	133	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7598449 rs140578416	135	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs140578416 CA392699914	135	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs193116526 CA7598451	136	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs753977055 CA7598450	136	I>V		No	ClinGen ExAC gnomAD
rs925569091 CA271964269	138	E>G		No	ClinGen Ensembl
CA7598453 rs746122194	139	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1367961784 CA392699974	139	K>R		No	ClinGen TOPMed
CA7598454 rs771719157	140	K>E		No	ClinGen ExAC TOPMed gnomAD
rs142023685 CA7598455	144	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1273893923 CA392700074	144	T>S		No	ClinGen gnomAD
CA271964303 rs895144194	145	G>D		No	ClinGen TOPMed
CA392700104 rs1298716774	146	T>I		No	ClinGen TOPMed gnomAD
CA392700110 rs1337078258	147	L>V		No	ClinGen gnomAD
rs761444752 CA7598459	149	K>R		No	ClinGen ExAC gnomAD
rs990877752 CA271964335	153	L>V		No	ClinGen Ensembl
rs762679240 CA7598462	155	R>*		No	ClinGen ExAC gnomAD
rs762679240 CA392700259	155	R>G		No	ClinGen ExAC gnomAD
rs372145437 CA7598463	155	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372145437 CA7598464	155	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1013642664 CA392700290	156	D>E		No	ClinGen TOPMed gnomAD
rs866879036 CA271964364	156	D>Y		No	ClinGen Ensembl
rs764634075 CA392700353	160	M>K		No	ClinGen ExAC TOPMed gnomAD
rs764634075 CA7598466	160	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1379715489 CA392700398	163	L>M		No	ClinGen TOPMed gnomAD
CA392700406 rs1489818413	163	L>S		No	ClinGen TOPMed
rs753884519 CA7598467	164	K>R		No	ClinGen ExAC gnomAD
rs753884519 CA392700424	164	K>T		No	ClinGen ExAC gnomAD
CA392700439 rs1287810550	165	A>S		No	ClinGen TOPMed
CA271964422 rs868793488	168	H>Q		No	ClinGen Ensembl
rs1457209339 CA392700556	173	L>I		No	ClinGen TOPMed gnomAD
rs750586990 CA7598490	173	L>R		No	ClinGen ExAC gnomAD
CA7598491 rs758540237	178	H>N		No	ClinGen ExAC gnomAD
CA392701436 rs1331988840	178	H>Q		No	ClinGen TOPMed gnomAD
rs766659676 CA7598492	179	S>I		No	ClinGen ExAC gnomAD
rs1428881147 CA392701473	180	R>*		No	ClinGen gnomAD
CA7598493 rs542705235	180	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392701516 rs1339586455	182	F>L		No	ClinGen gnomAD
CA7598494 rs754767981	184	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1035566516 CA271966651	185	Q>E		No	ClinGen TOPMed gnomAD
rs1176545195 CA392701611	187	V>L		No	ClinGen gnomAD
rs1425439834 CA392701642	188	D>A		No	ClinGen TOPMed
CA7598496 rs748030275	188	D>E		No	ClinGen ExAC gnomAD
rs756186800 CA7598497	189	E>G		No	ClinGen ExAC TOPMed gnomAD
CA7598499 rs377295412	191	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598500 rs149748576	192	T>M		No	ClinGen ESP ExAC gnomAD
CA392701796 rs1021261247	194	L>M		No	ClinGen TOPMed
CA392701813 rs1260595098	195	L>I		No	ClinGen TOPMed
rs774015442 CA7598501	196	R>I		No	ClinGen ExAC gnomAD
CA7598503 rs768952963	197	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs968813596 CA271966702	197	R>W		No	ClinGen TOPMed
rs1262417265 CA392702030	203	D>E		No	ClinGen gnomAD
CA392702113 rs1486115540	206	V>A		No	ClinGen gnomAD
rs776986439 CA7598504	208	S>L		No	ClinGen ExAC gnomAD
rs1481229700 CA392702210	210	D>N		No	ClinGen TOPMed gnomAD
rs763045450 CA7598508	212	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1567276817 CA392702349	215	N>K		No	ClinGen Ensembl
CA392702421 rs1299961597	218	Y>D		No	ClinGen TOPMed
rs1435842279 CA392702469	220	Q>K		No	ClinGen TOPMed
CA271968206 rs879174404	221	A>V		No	ClinGen Ensembl
CA392702789 rs1361409467	222	R>Q		No	ClinGen TOPMed gnomAD
rs1306969517 CA392702788	222	R>W		No	ClinGen gnomAD
CA392702816 rs1228680566	224	D>N		No	ClinGen gnomAD
rs767900156 CA7598533	230	H>Q		No	ClinGen ExAC gnomAD
rs1275958413 CA392702898	231	P>L		No	ClinGen TOPMed
rs192083571 CA7598534	233	S>C		No	ClinGen 1000Genomes ExAC
CA392702931 rs1416281460	234	F>C		No	ClinGen TOPMed
CA392702939 rs1357993741	235	E>G		No	ClinGen TOPMed
rs532505276 CA7598536	235	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532505276 CA392702937	235	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753753113 CA7598537	240	F>I		No	ClinGen ExAC gnomAD
rs757148262 CA271968299	242	G>A		No	ClinGen ExAC TOPMed gnomAD
rs757148262 CA7598538	242	G>V		No	ClinGen ExAC TOPMed gnomAD
CA7598539 rs778484034	247	I>M		No	ClinGen ExAC gnomAD
rs1413472868 CA392703109	249	F>V		No	ClinGen gnomAD
rs1172769103 CA392703148	252	H>P		No	ClinGen gnomAD
rs758027735 CA7598541	252	H>Y		No	ClinGen ExAC gnomAD
CA271968324 rs544522230	256	K>I		No	ClinGen Ensembl
CA7598543 rs746682503	257	H>Q		No	ClinGen ExAC gnomAD
rs1329325097 CA392703210	257	H>Y		No	ClinGen gnomAD
CA392703238 rs1478380819	259	P>A		No	ClinGen TOPMed
CA271968336 rs889106758	261	F>I		No	ClinGen TOPMed
CA7598557 rs753644525	264	L>V		No	ClinGen ExAC gnomAD
CA392707044 rs1278531722	268	L>R		No	ClinGen gnomAD
CA7598560 rs142533366	268	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392707065 rs757850065	270	K>E		No	ClinGen ExAC gnomAD
CA7598561 rs757850065	270	K>Q		No	ClinGen ExAC gnomAD
CA392707075 rs1482005792	270	K>R		No	ClinGen TOPMed
CA7598563 rs751142551	272	Y>C		No	ClinGen ExAC gnomAD
rs1201584517 CA392707152	274	K>E		No	ClinGen TOPMed gnomAD
rs749656020 CA7598566	278	A>T		No	ClinGen ExAC gnomAD
CA392707263 rs1219267339	278	A>V		No	ClinGen gnomAD
CA7598567 rs771447978	279	E>K		No	ClinGen ExAC gnomAD
rs779513729 CA7598568	280	K>R		No	ClinGen ExAC gnomAD
CA7598570 rs772210985	282	I>F		No	ClinGen ExAC TOPMed gnomAD
rs775724497 CA7598571	282	I>T		No	ClinGen ExAC gnomAD
rs140935965 CA271978709	283	F>C		No	ClinGen ESP TOPMed
CA7598575 rs761558204	284	Q>E		No	ClinGen ExAC gnomAD
rs1185776939 CA392707678	285	E>G		No	ClinGen TOPMed
CA392707664 rs1357357243	285	E>K		No	ClinGen gnomAD
CA7598598 rs376850368	287	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598599 rs200982885	289	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs536322654 CA271979508	290	G>A		No	ClinGen 1000Genomes
rs755840257 CA7598601	290	G>R		No	ClinGen ExAC TOPMed gnomAD
rs755840257 CA392707803	290	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7598603 rs750882053	292	M>I		No	ClinGen ExAC gnomAD
rs765682375 CA7598602	292	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1166677302 CA392707869	293	S>C		No	ClinGen gnomAD
CA392707870 rs1210008597	293	S>N		No	ClinGen TOPMed
rs1263128923 CA392707897	295	I>V		No	ClinGen TOPMed
CA392707940 rs1299875600	297	A>V		No	ClinGen gnomAD
rs747569276 CA7598606	300	K>R		No	ClinGen ExAC gnomAD
CA271979518 rs970860171	301	Y>F		No	ClinGen TOPMed gnomAD
rs781350490 CA7598608	302	V>I		No	ClinGen ExAC gnomAD
CA7598610 rs748308139	304	L>F		No	ClinGen ExAC gnomAD
CA7598613 rs772963473	305	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7598612 rs772963473	305	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7598614 rs770735761	305	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7598616 rs759522258	306	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774116063 CA7598615	306	R>W		No	ClinGen ExAC gnomAD
rs775122207 CA7598618	309	R>C		No	ClinGen ExAC TOPMed gnomAD
rs886677431 CA271979574	309	R>H		No	ClinGen TOPMed gnomAD
CA392708161 rs1282918312	310	T>I		No	ClinGen TOPMed gnomAD
rs765972588 CA7598620	311	Y>*		No	ClinGen ExAC gnomAD
CA392708196 rs750791867	313	V>L		No	ClinGen ExAC gnomAD
CA7598622 rs750791867	313	V>M		No	ClinGen ExAC gnomAD
rs1185047411 CA392708219	314	S>F		No	ClinGen TOPMed gnomAD
CA392710367 rs1488486031	326	N>Y		No	ClinGen gnomAD
CA392710419 rs1260597665	330	P>A		No	ClinGen TOPMed gnomAD
CA392710420 rs1260597665	330	P>S		No	ClinGen TOPMed gnomAD
CA392710418 rs1260597665	330	P>T		No	ClinGen TOPMed gnomAD
rs778567163 CA7598652	331	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7598653 rs745713228	331	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7598655 rs779989050	333	L>M		No	ClinGen ExAC gnomAD
CA392710485 rs1596718388	335	I>M		No	ClinGen Ensembl
rs746971452 CA7598656	336	T>I		No	ClinGen ExAC gnomAD
rs776342599 CA7598658	338	D>A		No	ClinGen ExAC TOPMed gnomAD
CA392710526 rs1357748076	339	S>A		No	ClinGen TOPMed
CA392710533 VAR_076545 rs1343670062	339	S>L	found in patients with fifth finger camptodactyly syndrome; unknown pathological significance [UniProt]	No	ClinGen UniProt dbSNP gnomAD
rs11634784 CA271986054 VAR_055313	340	V>A		No	ClinGen UniProt Ensembl dbSNP
CA7598661 rs774560404	340	V>M		No	ClinGen ExAC gnomAD
CA392710546 rs1567350633	341	M>K		No	ClinGen Ensembl
rs759897878 CA7598662	342	R>H		No	ClinGen ExAC TOPMed gnomAD
CA392710565 rs1354240935	343	V>M		No	ClinGen gnomAD
rs1596718689 CA392710587	345	E>K		No	ClinGen Ensembl
CA7598664 rs775909178	346	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7598665 rs761185045	350	V>L		No	ClinGen ExAC gnomAD
CA7598667 rs753985153	352	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA392710681 rs1307329109	353	E>V		No	ClinGen gnomAD
CA7598668 rs757388322	357	T>A		No	ClinGen ExAC TOPMed gnomAD
rs946324236 CA271986075	357	T>I		No	ClinGen TOPMed gnomAD
rs757388322 CA392710726	357	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1192379375 CA392710733	358	T>A		No	ClinGen gnomAD
CA392710738 rs1318384719	358	T>N		No	ClinGen gnomAD
CA271986082 rs756386098	359	V>I		No	ClinGen TOPMed gnomAD
rs765543453 CA7598669	361	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1406192384 CA392710765	361	R>H		No	ClinGen gnomAD
CA392710815 rs779996365	366	P>A		No	ClinGen ExAC gnomAD
CA7598672 rs779996365	366	P>S		No	ClinGen ExAC gnomAD
CA7598673 rs746881731	369	F>L		No	ClinGen ExAC gnomAD
CA392710874 rs1333376577	371	L>P		No	ClinGen gnomAD
CA392691590 rs1353207015	373	F>L		No	ClinGen gnomAD
CA271945016 rs898178787	373	F>S		No	ClinGen TOPMed
rs1408590695 CA392691611	374	G>R		No	ClinGen TOPMed
rs904848326 CA271945028	377	Q>H		No	ClinGen TOPMed
rs770635709 CA7598701	378	E>K		No	ClinGen ExAC gnomAD
rs770635709 CA7598700	378	E>Q		No	ClinGen ExAC gnomAD
CA392691776 rs1195792643	381	Y>C		No	ClinGen gnomAD
rs747420067 CA7598702	381	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs867546286 CA271945052	382	S>L		No	ClinGen Ensembl
rs1595682555 CA392691815	383	V>I		No	ClinGen Ensembl
CA392691866 rs1444575407	384	Q>H		No	ClinGen TOPMed gnomAD
CA7598704 rs777153273	388	G>E		No	ClinGen ExAC gnomAD
CA271945119 rs995241951	389	E>D		No	ClinGen Ensembl
rs1474371627 CA392691957	390	Q>L		No	ClinGen TOPMed gnomAD
CA271945121 rs879082645	391	I>M		No	ClinGen Ensembl
rs1014804292 CA271945122	392	S>F		No	ClinGen TOPMed
rs1000386087 CA271945158	399	I>V		No	ClinGen TOPMed
rs1427200381 CA392692104	400	D>E		No	ClinGen gnomAD
CA392692100 rs1166167092	400	D>G		No	ClinGen gnomAD
rs1414923319 CA392692112	401	I>V		No	ClinGen gnomAD
CA7598708 rs773219965	402	I>F		No	ClinGen ExAC TOPMed gnomAD
rs773219965 CA7598707	402	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7598732 rs752501771	406	K>Q		No	ClinGen ExAC gnomAD
CA7598733 rs760629497	407	Q>H		No	ClinGen ExAC
rs998051690 CA271946740	407	Q>K		No	ClinGen TOPMed
CA271946753 rs752555481	409	K>I		No	ClinGen Ensembl
CA271946755 rs374066160	411	R>Q		No	ClinGen TOPMed gnomAD
CA7598734 rs763987024	412	F>S		No	ClinGen ExAC gnomAD
rs753834048 CA7598735	414	L>P		No	ClinGen ExAC gnomAD
CA7598736 rs756715694	416	G>R		No	ClinGen ExAC gnomAD
CA392692879 rs756715694	416	G>S		No	ClinGen ExAC gnomAD
rs370693887 CA7598737	417	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs370693887 CA392692899	417	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598738 rs750018086	419	E>D		No	ClinGen ExAC gnomAD
CA7598740 rs781612447	422	M>I		No	ClinGen ExAC gnomAD
rs145094361 CA7598739	422	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598742 rs146852692	426	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598745 rs757965110	427	V>I		No	ClinGen ExAC TOPMed gnomAD
CA392693059 rs1300976297	428	S>F		No	ClinGen TOPMed
rs150483780 CA7598746	429	P>L		No	ClinGen ESP ExAC TOPMed
CA392693073 rs1237231450	430	K>E		No	ClinGen gnomAD
CA7598778 rs764361637	431	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7598747 rs746083800	431	K>Q		No	ClinGen ExAC gnomAD
CA7598779 rs368512872	434	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598780 rs757817747	436	Q>E		No	ClinGen ExAC gnomAD
CA392694092 rs779511723	441	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7598781 rs779511723	441	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201978847 CA271949534	441	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
rs750997175 CA7598782	442	T>S		No	ClinGen ExAC gnomAD
rs780192304 CA7598784	443	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1314126505 CA392694198	446	E>*		No	ClinGen TOPMed
rs747181621 CA7598785	446	E>D		No	ClinGen ExAC gnomAD
rs548493758 CA7598786	447	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA7598788 rs747892078	448	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1280561334 CA392694274	449	S>L		No	ClinGen TOPMed
CA7598790 rs138352506	451	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7598793 rs773979359	452	L>R		No	ClinGen ExAC
rs566694318 CA271949580	453	P>L		No	ClinGen gnomAD
rs759082629 CA7598794	453	P>S		No	ClinGen ExAC gnomAD
rs752419368 CA7598796	454	A>T		No	ClinGen ExAC gnomAD
CA392694427 rs1595702351	455	V>G		No	ClinGen Ensembl
rs376496570 CA392694406	455	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376496570 CA392694403	455	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376496570 CA7598799	455	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424055461 CA392694447	456	M>T		No	ClinGen TOPMed
CA7598800 rs146432274	457	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598801 rs139117605	457	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598802 rs143132556	458	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs943385085 CA271949619	459	G>D		No	ClinGen TOPMed gnomAD
CA392694512 rs1595702402	459	G>S		No	ClinGen Ensembl
CA392694544 rs1354018424	460	S>F		No	ClinGen gnomAD
CA392694585 rs148665697	461	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598806 rs769525200	462	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7598807 rs777607024	463	P>R		No	ClinGen ExAC
CA7598809 rs749178748	466	F>L		No	ClinGen ExAC gnomAD
CA392694706 rs1295949998	467	N>D		No	ClinGen TOPMed gnomAD
rs1295949998 CA392694698	467	N>H		No	ClinGen TOPMed gnomAD
CA392694719 rs773713515	467	N>K		No	ClinGen ExAC TOPMed gnomAD
CA7598811 rs200753658	468	V>F		No	ClinGen ExAC gnomAD
CA392694726 rs200753658	468	V>I		No	ClinGen ExAC gnomAD
CA392694783 rs1192188689	470	S>G		No	ClinGen gnomAD
rs775214918 CA7598813	472	P>L		No	ClinGen ExAC gnomAD
CA392694817 rs1401555812	472	P>S		No	ClinGen gnomAD
CA7598814 rs375180020	473	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7598815 rs765680282	475	Q>P		No	ClinGen ExAC gnomAD
rs1384323480 CA392694839	476	Q>K		No	ClinGen TOPMed
rs1311241583 CA392694848	477	Q>E		No	ClinGen gnomAD
CA392694851 rs1373767624	477	Q>R		No	ClinGen gnomAD
CA392694857 rs1430784336	478	V>F		No	ClinGen gnomAD
rs1334189073 CA392694868	479	M>I		No	ClinGen TOPMed
rs773689205 CA7598816	479	M>T		No	ClinGen ExAC gnomAD
CA7598817 rs537587203	483	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7598818 rs766955801	484	H>D		No	ClinGen ExAC gnomAD
rs752041573 CA392694943	484	H>P		No	ClinGen ExAC gnomAD
rs752041573 CA7598819	484	H>R		No	ClinGen ExAC gnomAD
rs1271943887 CA392694958	485	R>*		No	ClinGen gnomAD
rs754986736 CA7598820	485	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA392694976 rs1212342230	486	G>D		No	ClinGen gnomAD
CA271949724 rs1043261807	487	H>R		No	ClinGen TOPMed gnomAD
CA392695006 rs1176920138	488	M>V		No	ClinGen TOPMed gnomAD
CA7598822 rs752905657	489	P>L		No	ClinGen ExAC TOPMed gnomAD
CA392695030 rs752905657	489	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs767602563 CA7598821	489	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7598823 rs756395223	490	P>S		No	ClinGen ExAC gnomAD
rs1333276790 CA392695056	491	L>P		No	ClinGen gnomAD
CA7598824 rs374079933	491	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392695736 rs1475071723	494	A>T		No	ClinGen gnomAD
CA7598853 rs376377833	494	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs910681765 CA271950518	495	Q>H		No	ClinGen Ensembl
rs1264572263 CA392695759	495	Q>R		No	ClinGen TOPMed
CA392695791 rs1427088019	497	A>V		No	ClinGen gnomAD
rs760005789 CA7598856	499	M>I		No	ClinGen ExAC TOPMed gnomAD
rs760005789 CA392695822	499	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7598855 rs139218709	499	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392695811 rs139218709	499	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392695835 rs1318458087	500	G>E		No	ClinGen gnomAD
rs1401422919 CA392695832	500	G>R		No	ClinGen TOPMed gnomAD
rs1401422919 CA392695830	500	G>W		No	ClinGen TOPMed gnomAD
CA392695855 rs1325333919	502	I>V		No	ClinGen gnomAD
rs772617298 CA7598857	503	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1225209595 CA392695905	504	T>P		No	ClinGen TOPMed
rs143977613 CA7598858	504	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1373753101 CA392695925	505	S>G		No	ClinGen gnomAD
CA7598859 rs760708648	505	S>T		No	ClinGen ExAC gnomAD
rs1280009164 CA392695956	506	M>T		No	ClinGen gnomAD
CA7598860 rs764083207	507	H>R		No	ClinGen ExAC
CA7598862 rs539690024	508	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA7598864 rs199938775	509	V>I		No	ClinGen ExAC gnomAD
rs1191033657 CA392696037	510	Q>*		No	ClinGen gnomAD
rs780087193 CA7598866	512	A>P		No	ClinGen ExAC
rs751575830 CA7598867	514	D>G		No	ClinGen ExAC gnomAD
CA392696184 rs1393006968	516	L>V		No	ClinGen gnomAD
CA392696248 rs1387297733	519	L>F		No	ClinGen TOPMed
CA392696308 rs1383708494	520	D>E		No	ClinGen gnomAD
rs1158778982 CA392696266	520	D>N		No	ClinGen TOPMed gnomAD
rs576320794 CA7598868	521	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392696372 rs1397360171	523	P>L		No	ClinGen gnomAD
CA392696385 rs1303193216	524	P>R		No	ClinGen gnomAD
rs747836269 CA7598870	524	P>S		No	ClinGen ExAC gnomAD
CA392696419 rs1241529684	525	L>P		No	ClinGen gnomAD
rs1369221722 CA392696411	525	L>V		No	ClinGen gnomAD
CA7598872 rs779227467	526	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1377576846 CA392696515	528	D>E		No	ClinGen TOPMed
CA7598873 rs536824184	528	D>N		No	ClinGen 1000Genomes ExAC
CA392696524 rs1203495288	529	M>V		No	ClinGen gnomAD
CA392697435 rs202110590	533	V>L		No	ClinGen gnomAD
rs202110590 CA271952292	533	V>L		No	ClinGen gnomAD
rs1595714083 CA392697561	540	D>A		No	ClinGen Ensembl
rs780454196 CA7598892	540	D>N		No	ClinGen ExAC gnomAD
CA392697581 rs1595714106	541	E>K		No	ClinGen Ensembl
rs769084433 CA271952321	544	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA7598896 rs191809972	545	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA7598895 rs776746143	545	E>K		No	ClinGen ExAC gnomAD
rs763327730 CA7598899	550	V>A		No	ClinGen ExAC TOPMed gnomAD
rs773498352 CA7598898	550	V>F		No	ClinGen ExAC TOPMed gnomAD
rs774332052 CA7598901	551	D>G		No	ClinGen ExAC gnomAD
CA392697822 rs1309226494	552	A>G		No	ClinGen gnomAD
CA392697890 rs1595714208	553	I>M		No	ClinGen Ensembl
CA7598903 rs767309789	553	I>V		No	ClinGen ExAC gnomAD
rs752712723 CA7598904	554	T>A		No	ClinGen ExAC gnomAD
rs755513274 CA7598905	554	T>M		No	ClinGen ExAC gnomAD
rs780364585 CA7598909	556	G>E		No	ClinGen ExAC gnomAD
rs756969005 CA7598908	556	G>R		No	ClinGen ExAC TOPMed gnomAD
CA392698000 rs1194507299	557	T>A		No	ClinGen gnomAD
rs967305788 CA271952375	557	T>M		No	ClinGen TOPMed
CA7598912 rs781508885	558	A>S		No	ClinGen ExAC gnomAD
rs1175864106 CA392698072	558	A>V		No	ClinGen gnomAD
rs1434305566 CA392698151	561	V>I		No	ClinGen gnomAD
rs769983925 CA7598914	562	N>I		No	ClinGen ExAC gnomAD
CA392698226 rs1595714312	563	L>V		No	ClinGen Ensembl
CA7598941 rs746117626	566	G>V		No	ClinGen ExAC gnomAD
rs1595716491 CA392698611	567	D>E		No	ClinGen Ensembl
CA271953019 rs551147916	567	D>G		No	ClinGen Ensembl
CA392698732 rs771752304	571	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7598942 rs771752304	571	T>N		No	ClinGen ExAC TOPMed gnomAD
rs775421008 CA7598943	574	T>R		No	ClinGen ExAC TOPMed gnomAD
CA271953032 rs57294659	575	A>V		No	ClinGen Ensembl
rs1466856358 CA392698922	577	G>A		No	ClinGen gnomAD
rs1225954996 CA392698934	578	C>Y		No	ClinGen gnomAD
rs760573881 CA7598944	579	A>V		No	ClinGen ExAC gnomAD
CA7598945 rs768629677	581	T>A		No	ClinGen ExAC gnomAD
CA271953036 rs376720761	583	I>V		No	ClinGen ESP
CA392699040 rs1251210660	584	S>A		No	ClinGen gnomAD
rs988019524 CA271953041	584	S>F		No	ClinGen TOPMed
rs776572724 CA392699136	588	T>K		No	ClinGen ExAC TOPMed gnomAD
rs776572724 CA7598946	588	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1278581693 CA392699226	590	M>K		No	ClinGen gnomAD
rs968361790 CA271953051	592	K>E		No	ClinGen Ensembl
CA7598949 rs749984081	593	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1436005309 CA392699359	595	K>R		No	ClinGen gnomAD
rs767743500 CA7598951	597	L>F		No	ClinGen ExAC gnomAD
rs1288211861 CA392699428	598	A>T		No	ClinGen gnomAD
rs865811785 CA271953066	598	A>V		No	ClinGen Ensembl
rs756569466 CA7598953	599	A>T		No	ClinGen ExAC gnomAD
rs926262459 CA271953094	601	M>I		No	ClinGen Ensembl
rs1567397998 CA392699509	601	M>T		No	ClinGen Ensembl
CA392699498 rs1274492539	601	M>V		No	ClinGen gnomAD
rs1172081815 CA392699527	602	D>N		No	ClinGen TOPMed
CA392699562 rs1449424730	603	D>G		No	ClinGen gnomAD
rs1233130790 CA392699592	604	E>D		No	ClinGen TOPMed gnomAD
CA7598954 rs146832843	605	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392699598 rs146832843	605	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1192434635 CA392699625	606	G>R		No	ClinGen TOPMed gnomAD
rs148980230 CA7598955	607	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs369897555 CA7598957	608	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA392699683 rs1167082540	608	G>V		No	ClinGen gnomAD
rs369897555 CA7598958	608	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404874228 CA392699727	609	E>D		No	ClinGen gnomAD
rs772375710 CA7598959	609	E>G		No	ClinGen ExAC gnomAD
CA7598960 rs779688767	610	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1208286254 CA392699780	611	L>F		No	ClinGen TOPMed
CA271953106 rs940210954	612	L>F		No	ClinGen Ensembl
CA392699801 rs1356508278	612	L>H		No	ClinGen gnomAD
CA7598961 rs115132378	613	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1356569186 CA392699846	614	A>G		No	ClinGen gnomAD
CA392699828 rs1595716992	614	A>T		No	ClinGen Ensembl
CA392699869 rs1337331105	615	A>S		No	ClinGen TOPMed
CA7598962 rs768470206	616	R>G		No	ClinGen ExAC TOPMed gnomAD
CA271953120 rs898778511	618	L>V		No	ClinGen TOPMed
rs1227264118 CA392699987	619	A>G		No	ClinGen gnomAD
rs761751298 CA7598964	619	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1049769292 CA271953129	621	A>V		No	ClinGen TOPMed gnomAD
rs372884109 CA7598966	622	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs574816226 CA7598968	624	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7598969 rs751288960	624	D>E		No	ClinGen ExAC TOPMed gnomAD
rs574816226 CA392700088	624	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7598967 rs762492287	624	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7598971 rs764570856	626	L>R		No	ClinGen ExAC gnomAD
CA7598970 rs761058035	626	L>V		No	ClinGen ExAC gnomAD
rs141499254 CA7598972	629	V>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs141499254 CA7598973	629	V>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs560394984 CA7598976	632	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7598975 rs560394984	632	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1294881509 CA392700274	633	S>A		No	ClinGen gnomAD
rs1008272180 CA271953175	634	G>E		No	ClinGen Ensembl
CA7599004 rs745487275	636	P>S		No	ClinGen ExAC gnomAD
CA7599005 rs771898088	637	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7599006 rs749772328	637	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7599007 rs762194704	639	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1421650450 CA392701872	640	V>A		No	ClinGen TOPMed
rs765519659 CA7599008	640	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7599009 rs370005049	641	L>M		No	ClinGen ESP ExAC gnomAD
CA7599010 rs763427386	642	T>A		No	ClinGen ExAC TOPMed gnomAD
CA271953687 rs763427386	642	T>P		No	ClinGen ExAC TOPMed gnomAD
CA7599011 rs766441248	643	A>V		No	ClinGen ExAC gnomAD
CA392702007 rs1410424536	644	A>V		No	ClinGen gnomAD
rs751676535 CA7599012	646	S>G		No	ClinGen ExAC gnomAD
rs755074621 CA7599013	646	S>T		No	ClinGen ExAC gnomAD
rs767686811 CA392702074	647	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7599015 rs752867517	648	G>E		No	ClinGen ExAC gnomAD
rs755884991 CA392702089	649	Q>E		No	ClinGen ExAC gnomAD
rs755884991 CA7599016	649	Q>K		No	ClinGen ExAC gnomAD
CA7599017 rs141111357	650	A>T		No	ClinGen ESP ExAC gnomAD
rs753813270 CA7599018	651	S>G		No	ClinGen ExAC gnomAD
rs757302612 CA7599019	651	S>I		No	ClinGen ExAC gnomAD
CA392702182 rs757302612	651	S>N		No	ClinGen ExAC gnomAD
rs1478004959 CA392702189	652	G>R		No	ClinGen TOPMed
rs1595719486 CA392702232	653	D>G		No	ClinGen Ensembl
rs1454548338 CA392702213	653	D>N		No	ClinGen gnomAD
rs1326999599 CA392702367	657	Q>H		No	ClinGen gnomAD
CA392702389 rs1243239921	658	I>T		No	ClinGen TOPMed
rs1193244303 CA392702403	659	G>R		No	ClinGen TOPMed
rs768996491 CA271953740	661	N>K		No	ClinGen Ensembl
rs952484683 CA271953745	663	T>P		No	ClinGen TOPMed
rs778541658 CA7599020	664	D>G		No	ClinGen ExAC gnomAD
rs778541658 CA392702592	664	D>V		No	ClinGen ExAC gnomAD
rs144036109 CA7599022	666	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145391682 CA7599046	673	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA7599047 rs771291639	674	L>M		No	ClinGen ExAC gnomAD
CA392704332 rs1170143321	675	A>D		No	ClinGen gnomAD
CA392704334 rs1170143321	675	A>G		No	ClinGen gnomAD
rs1170143321 CA392704338	675	A>V		No	ClinGen gnomAD
CA7599048 rs774782581	676	K>R		No	ClinGen ExAC gnomAD
CA271956994 rs867458472	679	A>D		No	ClinGen TOPMed
rs867458472 CA392704416	679	A>V		No	ClinGen TOPMed
rs139051192 CA7599049	680	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA271956998 rs1048887715	681	A>V		No	ClinGen gnomAD
rs775474933 CA7599051	685	L>F		No	ClinGen ExAC gnomAD
CA7599054 rs754119060	691	N>S		No	ClinGen ExAC
rs761630135 CA7599055	694	Q>E		No	ClinGen ExAC gnomAD
rs949950903 CA271957047	696	A>V		No	ClinGen TOPMed
rs866684971 CA271957057	697	E>*		No	ClinGen Ensembl
rs1283006841 CA392704729	697	E>D		No	ClinGen TOPMed gnomAD
rs751078143 CA7599060	698	D>E		No	ClinGen ExAC gnomAD
rs372051270 CA7599059	698	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392704794 rs1254838050	699	T>I		No	ClinGen gnomAD
CA7599062 rs780645333	701	L>V		No	ClinGen ExAC TOPMed gnomAD
rs779321310 CA7599065	702	Q>R		No	ClinGen ExAC TOPMed
rs1595734435 CA392704848	703	N>S		No	ClinGen Ensembl
rs1207891906 CA392704878	704	R>S		No	ClinGen TOPMed
CA271957095 rs373708013	704	R>T		No	ClinGen Ensembl
CA7599066 rs746347223	706	I>F		No	ClinGen ExAC TOPMed gnomAD
rs776089593 CA7599068	706	I>M		No	ClinGen ExAC gnomAD
CA7599067 rs772507203	706	I>T		No	ClinGen ExAC gnomAD
rs747016378 CA7599069	707	A>V		No	ClinGen ExAC gnomAD
rs201705607 CA7599070	708	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392704977 rs1385709262	709	A>D		No	ClinGen gnomAD
CA392705046 rs762180179	712	C>G		No	ClinGen ExAC gnomAD
CA7599072 rs762180179	712	C>R		No	ClinGen ExAC gnomAD
CA392705129 rs1306064181	715	S>C		No	ClinGen gnomAD
CA392705119 rs1235380418	715	S>P		No	ClinGen gnomAD
CA7599077 rs201561871	716	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1595734592 CA392705138	716	T>P		No	ClinGen Ensembl
rs1261852964 CA392705189	718	Q>R		No	ClinGen gnomAD
rs754389588 CA7599078	720	V>L		No	ClinGen ExAC gnomAD
CA271957174 rs965978619	722	C>R		No	ClinGen gnomAD
rs1595734639 CA392705288	722	C>Y		No	ClinGen Ensembl
CA7599079 rs147061927	723	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs774142540 CA7599095	725	V>A		No	ClinGen ExAC gnomAD
CA392706200 rs1324530006	728	P>R		No	ClinGen gnomAD
rs199719989 CA7599097	729	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs138242185 CA7599099	730	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA271960239 rs549141617	730	I>M		No	ClinGen Ensembl
CA7599098 rs138242185	730	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs763699350 CA7599100	731	S>I		No	ClinGen ExAC gnomAD
CA392706218 rs1567416157	732	S>T		No	ClinGen Ensembl
CA7599102 rs753490565	734	V>L		No	ClinGen ExAC TOPMed gnomAD
rs753490565 CA392706230	734	V>M		No	ClinGen ExAC TOPMed gnomAD
CA392706235 rs1220444014	735	C>S		No	ClinGen gnomAD
rs111317402 CA271960253	736	Q>L		No	ClinGen Ensembl
CA7599103 rs201247821	740	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA271960267 rs535754605	744	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7599107 rs781399224	746	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1595739169 CA392706319	747	D>A		No	ClinGen Ensembl
rs375686258 CA7599109	748	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375686258 CA7599108	748	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA271960273 rs901438535	748	R>H		No	ClinGen gnomAD
rs901438535 CA271960290	748	R>L		No	ClinGen gnomAD
rs749584051 CA7599111	749	S>L		No	ClinGen ExAC TOPMed gnomAD
rs553652809 CA392706335	750	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs553652809 CA7599113	750	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs182225725 CA7599114	752	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1285433769 CA392706374	752	N>K		No	ClinGen gnomAD
rs144563213 CA7599115	752	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392706380 rs1376402591	753	C>G		No	ClinGen gnomAD
rs1307261921 CA392706381	753	C>Y		No	ClinGen gnomAD
CA7599116 rs148053073	755	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs142680037 CA7599117	755	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7599118 rs763605191	757	C>F		No	ClinGen ExAC gnomAD
rs753471877 CA7599119	759	A>T		No	ClinGen ExAC gnomAD
CA7599120 rs761590199	759	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7599122 rs752003997	762	T>A		No	ClinGen ExAC TOPMed gnomAD
CA392706512 rs1187283135	763	D>G		No	ClinGen gnomAD
CA7599123 rs755318500	763	D>N		No	ClinGen ExAC gnomAD
rs1447975469 CA392706522	764	S>G		No	ClinGen gnomAD
CA7599125 rs781749829	766	L>F		No	ClinGen ExAC gnomAD
CA7599126 rs145927828	766	L>R		No	ClinGen ESP ExAC gnomAD
CA392706559 rs781749829	766	L>V		No	ClinGen ExAC gnomAD
CA392706591 rs749441180	768	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7599129 rs749441180	768	K>T		No	ClinGen ExAC TOPMed gnomAD
rs958757595 CA392706619	770	V>F		No	ClinGen gnomAD
rs779029456 CA7599131	770	V>G		No	ClinGen ExAC gnomAD
rs958757595 CA271960383	770	V>I		No	ClinGen gnomAD
rs771862000 CA7599133	771	S>G		No	ClinGen ExAC gnomAD
CA7599134 rs775345180	771	S>N		No	ClinGen ExAC TOPMed gnomAD
rs150742531 CA7599136	772	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599137 rs150742531	772	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761347835 CA7599138	773	A>V		No	ClinGen ExAC gnomAD
rs780971459 CA7599140	774	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1437404884 CA392706682	775	S>G		No	ClinGen Ensembl
rs1253897438 CA392706687	775	S>N		No	ClinGen TOPMed
rs1595739673 CA392706710	776	V>G		No	ClinGen Ensembl
rs139110889 CA7599143	776	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139110889 CA7599142	776	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1171284096 CA392706715	777	V>F		No	ClinGen gnomAD
CA392706722 rs1425093704	777	V>G		No	ClinGen gnomAD
rs201164012 CA7599145	778	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753909331 CA7599146	778	S>R		No	ClinGen ExAC gnomAD
CA7599147 rs757316828	779	Q>E		No	ClinGen ExAC gnomAD
CA392706771 rs1319512904	781	L>I		No	ClinGen gnomAD
rs1438364626 CA392706801	782	H>Q		No	ClinGen gnomAD
rs1272933632 CA392706809	783	D>V		No	ClinGen gnomAD
rs929679617 CA271960471	784	L>F		No	ClinGen TOPMed
rs758172653 CA7599150	787	H>R		No	ClinGen ExAC gnomAD
CA392706836 rs1228991832	787	H>Y		No	ClinGen gnomAD
rs768628001 CA7599153	789	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7599152 rs375692009	789	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351978018 CA392706944	793	S>G		No	ClinGen gnomAD
rs1453622585 CA392706960	793	S>N		No	ClinGen gnomAD
CA271960480 rs970513400	794	R>*		No	ClinGen TOPMed gnomAD
rs970513400 CA392706991	794	R>G		No	ClinGen TOPMed gnomAD
rs145362831 CA7599154	794	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599155 rs145362831	794	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772906910 CA7599157	796	E>K		No	ClinGen ExAC gnomAD
rs1413483452 CA392707084	797	P>H		No	ClinGen gnomAD
rs762761889 CA7599158	798	I>V		No	ClinGen ExAC gnomAD
rs776047621 CA7599160	799	G>A		No	ClinGen ExAC gnomAD
CA392707142 rs1391008249	799	G>S		No	ClinGen gnomAD
CA7599161 rs374231402	800	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599162 rs764624691	800	R>H		No	ClinGen ExAC TOPMed gnomAD
CA392707168 rs764624691	800	R>L		No	ClinGen ExAC TOPMed gnomAD
CA271960525 rs374231402	800	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs757307260 CA7599164	802	D>N		No	ClinGen ExAC gnomAD
rs1227872179 CA392707363	803	Q>H		No	ClinGen gnomAD
CA7599166 rs750649711	804	A>D		No	ClinGen ExAC gnomAD
rs1306753641 CA392707389	805	T>A		No	ClinGen gnomAD
rs758656762 CA7599167	806	D>A		No	ClinGen ExAC gnomAD
CA392707420 rs1195716224	807	T>A		No	ClinGen TOPMed
rs779397920 CA271960594	807	T>I		No	ClinGen TOPMed gnomAD
rs779397920 CA392707424	807	T>N		No	ClinGen TOPMed gnomAD
CA7599168 rs779799685	809	M>I		No	ClinGen ExAC gnomAD
CA392707460 rs1483606035	809	M>T		No	ClinGen gnomAD
CA392707451 rs1289579100	809	M>V		No	ClinGen gnomAD
rs1276464451 CA392707535	812	T>I		No	ClinGen TOPMed gnomAD
rs754795772 CA7599170	813	E>K		No	ClinGen ExAC gnomAD
CA392707570 rs1180461561	814	S>G		No	ClinGen gnomAD
rs934171167 CA271960634	816	F>I		No	ClinGen Ensembl
CA7599172 rs748048296	817	S>G		No	ClinGen ExAC gnomAD
rs1555482930 CA392707693	819	M>I		No	ClinGen Ensembl
CA7599173 rs769343694	819	M>L		No	ClinGen ExAC gnomAD
CA7599174 rs777188999	819	M>T		No	ClinGen ExAC gnomAD
CA392707671 rs769343694	819	M>V		No	ClinGen ExAC gnomAD
rs371362291 CA7599175	820	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA271960677 rs903420412	820	G>D		No	ClinGen TOPMed
rs1000217885 CA271960681	822	A>T		No	ClinGen TOPMed gnomAD
rs780433616 CA271963272	823	G>D		No	ClinGen Ensembl
rs1379307798 CA392708984	824	E>K		No	ClinGen gnomAD
CA392709033 rs1175783452	827	R>C		No	ClinGen TOPMed gnomAD
CA7599199 rs749680451	827	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1270349836 CA392709057	828	Q>H		No	ClinGen TOPMed
rs1361636682 CA392709073	829	A>E		No	ClinGen gnomAD
rs1318824022 CA392709066	829	A>T		No	ClinGen TOPMed gnomAD
rs1361636682 CA392709095	829	A>V		No	ClinGen gnomAD
CA392709111 rs1470223484	830	R>Q		No	ClinGen TOPMed
rs568266946 CA7599202	830	R>W		No	ClinGen ExAC gnomAD
rs35864192 CA7599203	831	V>L		No	ClinGen ExAC TOPMed gnomAD
CA392709142 rs1595750819	833	A>P		No	ClinGen Ensembl
CA271963328 rs375130744	836	T>A		No	ClinGen ESP
rs767321846 CA7599206	839	L>F		No	ClinGen ExAC
CA7599209 rs369372883	840	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599210 rs753843035	841	N>S		No	ClinGen ExAC TOPMed gnomAD
rs778629515 CA7599212	843	M>T		No	ClinGen ExAC gnomAD
rs756818664 CA7599211	843	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1375563531 CA392709444	847	A>V		No	ClinGen gnomAD
CA392709452 rs1269272822	848	E>K		No	ClinGen gnomAD
CA7599214 rs758032889	849	A>V		No	ClinGen ExAC TOPMed gnomAD
rs779049063 CA271963415	850	E>K		No	ClinGen gnomAD
CA7599215 rs779776169	851	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7599217 rs530796552	852	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7599218 rs147975596	853	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599220 rs770968499	855	N>S		No	ClinGen ExAC gnomAD
rs774463478 CA7599221	857	K>E		No	ClinGen ExAC gnomAD
rs759685818 CA7599222	857	K>N		No	ClinGen ExAC gnomAD
CA392709648 rs1289555672	858	K>N		No	ClinGen gnomAD
CA392709660 rs1299563860	860	L>R		No	ClinGen gnomAD
rs1304319574 CA392709663	861	A>E		No	ClinGen TOPMed gnomAD
CA7599224 rs775788900	861	A>T		No	ClinGen ExAC gnomAD
CA7599227 rs772095104	866	L>V		No	ClinGen ExAC TOPMed gnomAD
CA392709732 rs1595751151	872	R>G		No	ClinGen Ensembl
rs1221591376 CA392709733	872	R>H		No	ClinGen gnomAD
rs1221591376 CA392709735	872	R>L		No	ClinGen gnomAD
rs764814183 CA7599229	873	M>I		No	ClinGen ExAC gnomAD
rs1451534038 CA392711182	879	G>E		No	ClinGen gnomAD
CA7599251 rs754674979	880	A>T		No	ClinGen ExAC gnomAD
CA7599254 rs757625065	884	P>L		No	ClinGen ExAC gnomAD
CA7599255 rs779232353	885	E>D		No	ClinGen ExAC gnomAD
CA7599256 rs141537406	886	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392711231 rs1253701502	887	E>G		No	ClinGen TOPMed
CA7599257 rs530601554	888	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7599258 rs780227075	889	Q>R		No	ClinGen ExAC gnomAD
CA392711252 rs1250248785	890	Q>R		No	ClinGen TOPMed gnomAD
rs560649742 CA271966774	892	R>S		No	ClinGen Ensembl
rs777021884 CA7599261	896	A>V		No	ClinGen ExAC gnomAD
rs773007807 CA7599264	901	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7599263 rs769722515	901	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1306757301 CA392711327	902	V>L		No	ClinGen TOPMed
CA7599266 rs765775319	904	T>I		No	ClinGen ExAC gnomAD
CA271966808 rs1052939323	906	A>T		No	ClinGen TOPMed
CA271966811 rs200493847	909	Q>K		No	ClinGen Ensembl
CA7599268 rs759078026	910	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1336099880 CA392711385	911	A>V		No	ClinGen TOPMed
CA392711388 rs1368201344	912	I>V		No	ClinGen gnomAD
CA7599269 rs767091695	918	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1322963977 CA392711463	919	R>*		No	ClinGen TOPMed gnomAD
CA271966819 rs375098264	919	R>Q		No	ClinGen ESP gnomAD
rs775913242 CA271966820	921	E>G		No	ClinGen gnomAD
CA392711731 rs1365088115	922	V>A		No	ClinGen gnomAD
rs760363599 CA7599289	922	V>F		No	ClinGen ExAC gnomAD
rs1268065516 CA392711733	923	A>T		No	ClinGen TOPMed
CA392711753 rs1259663992	926	Q>E		No	ClinGen TOPMed
rs758717401 CA271967593	927	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7599292 rs758717401	927	A>T		No	ClinGen ExAC TOPMed gnomAD
rs766839466 CA7599293	927	A>V		No	ClinGen ExAC gnomAD
CA392711765 rs1385982532	928	A>E		No	ClinGen Ensembl
CA271967600 rs776142002	928	A>S		No	ClinGen ExAC TOPMed gnomAD
rs776142002 CA7599295	928	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392711772 rs370252081	929	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392711768 rs1309906851	929	A>T		No	ClinGen gnomAD
rs370252081 CA7599296	929	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358839411 CA392711776	930	A>G		No	ClinGen gnomAD
CA7599298 rs756408224	930	A>T		No	ClinGen ExAC gnomAD
rs1291583042 CA392711782	931	A>G		No	ClinGen gnomAD
rs1251999480 CA392711800	934	T>S		No	ClinGen gnomAD
rs774261441 CA7599302	935	I>V		No	ClinGen ExAC TOPMed gnomAD
rs771543084 CA7599304	936	A>S		No	ClinGen ExAC gnomAD
rs141002416 RCV000881845 CA7599306	938	S>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA392711822 rs141002416	938	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392711821 rs141002416	938	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392711832 rs1406696262	939	Q>H		No	ClinGen gnomAD
rs1595771447 CA392711830	939	Q>R		No	ClinGen Ensembl
rs192124826 CA7599307	941	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776149238 CA7599308	941	A>V		No	ClinGen ExAC gnomAD
CA271967640 rs984477115	942	A>V		No	ClinGen TOPMed gnomAD
rs766710014 CA7599310	944	S>C		No	ClinGen ExAC gnomAD
CA7599309 rs763316593	944	S>P		No	ClinGen ExAC gnomAD
CA7599311 rs766710014	944	S>Y		No	ClinGen ExAC gnomAD
CA7599312 rs755581415	945	N>I		No	ClinGen ExAC TOPMed gnomAD
CA392711864 rs755581415	945	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1343356507 CA392711867	946	K>Q		No	ClinGen gnomAD
CA392711871 rs1461041973	946	K>R		No	ClinGen TOPMed
rs1274087560 CA392711884	948	P>A		No	ClinGen TOPMed
rs374123983 CA7599315	949	A>V		No	ClinGen ESP ExAC gnomAD
CA392711919 rs1462359788	953	Q>L		No	ClinGen gnomAD
rs1195168111 CA392711940	956	Q>H		No	ClinGen gnomAD
CA7599318 rs757072346	956	Q>K		No	ClinGen ExAC gnomAD
rs1449867582 CA392711938	956	Q>R		No	ClinGen gnomAD
CA392712288 rs1329405644	960	A>T		No	ClinGen gnomAD
rs1217558266 CA392712325	963	D>H		No	ClinGen gnomAD
rs750174235 CA7599339	966	P>S		No	ClinGen ExAC gnomAD
rs1253227509 CA392712389	967	Q>H		No	ClinGen TOPMed
CA392712383 rs1270972155	967	Q>P		No	ClinGen gnomAD
rs758197452 CA7599340	968	L>V		No	ClinGen ExAC TOPMed gnomAD
rs769872255 CA7599341	969	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1595778714 CA392712448	972	V>G		No	ClinGen Ensembl
rs746979515 CA7599343	972	V>L		No	ClinGen ExAC gnomAD
rs746979515 CA7599342	972	V>M		No	ClinGen ExAC gnomAD
CA7599344 rs780608807	973	R>K		No	ClinGen ExAC gnomAD
rs1458744823 CA392712460	973	R>S		No	ClinGen TOPMed gnomAD
rs35519324 CA7599345	974	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1285730331 CA392712481	975	S>G		No	ClinGen TOPMed
rs1373468490 CA392712504	977	A>G		No	ClinGen gnomAD
CA7599348 rs138040649	977	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599350 rs146029407	981	D>N		No	ClinGen ESP ExAC
rs761124694 CA7599351	984	A>D		No	ClinGen ExAC gnomAD
CA7599352 rs761124694	984	A>G		No	ClinGen ExAC gnomAD
CA392712549 rs1414940813	984	A>P		No	ClinGen gnomAD
CA392712548 rs1414940813	984	A>T		No	ClinGen gnomAD
rs753809631 CA7599353	985	Q>*		No	ClinGen ExAC gnomAD
rs761908760 CA7599354	985	Q>H		No	ClinGen ExAC gnomAD
rs531515976 CA7599355	987	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392712564 rs531515976	987	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7599356 rs750661500	987	A>V		No	ClinGen ExAC TOPMed gnomAD
rs200608867 CA7599357	988	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs200608867 CA392712569	988	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7599358 rs779893830	990	I>T		No	ClinGen ExAC gnomAD
rs754921651 CA7599360	991	S>C		No	ClinGen ExAC gnomAD
rs1175641248 CA392712587	991	S>P		No	ClinGen TOPMed gnomAD
CA271969057 rs1021680271	992	S>G		No	ClinGen TOPMed
CA271969058 rs938984727	992	S>T		No	ClinGen TOPMed
CA7599361 rs781212714	993	Q>*		No	ClinGen ExAC gnomAD
CA7599362 rs747571876	993	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA271971199 rs1055431248	1001	K>R		No	ClinGen TOPMed
rs902622950 CA271971200	1002	M>V		No	ClinGen TOPMed gnomAD
CA7599390 rs769836259	1003	V>A		No	ClinGen ExAC TOPMed gnomAD
rs184149496 CA7599391	1005	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA392712696 rs1595787323	1006	A>S		No	ClinGen Ensembl
CA7599395 rs113672570	1009	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7599394 rs113672570	1009	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7599396 rs767411833	1010	V>M		No	ClinGen ExAC
rs1178057458 CA392712728	1011	P>L		No	ClinGen TOPMed gnomAD
rs1266517830 CA392712725	1011	P>T		No	ClinGen gnomAD
rs756791782 CA7599401	1013	V>A		No	ClinGen ExAC gnomAD
rs141513413 CA7599400	1013	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs778368828 CA7599402	1016	Q>K		No	ClinGen ExAC gnomAD
rs745596573 CA7599403	1017	A>T		No	ClinGen ExAC gnomAD
CA7599406 rs781652394	1018	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7599405 rs781652394	1018	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7599407 rs537284289	1018	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs773740756 CA7599408	1019	A>T		No	ClinGen ExAC gnomAD
rs368526005 CA7599409	1021	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315245686 CA392712795	1022	L>P		No	ClinGen Ensembl
CA7599410 rs771100434	1023	S>N		No	ClinGen ExAC gnomAD
rs774430820 CA7599411	1023	S>R		No	ClinGen ExAC gnomAD
rs889339589 CA392712825	1024	Q>L		No	ClinGen TOPMed
CA271971277 rs889339589	1024	Q>R		No	ClinGen TOPMed
rs1491002191 CA392712837	1025	C>R		No	ClinGen gnomAD
CA392712850 rs1183877301	1026	A>S		No	ClinGen gnomAD
rs771739882 CA7599413	1030	A>T		No	ClinGen ExAC gnomAD
rs775373232 CA7599414	1030	A>V		No	ClinGen ExAC gnomAD
rs760574948 CA392712955	1034	A>G		No	ClinGen ExAC TOPMed gnomAD
rs760574948 CA7599415	1034	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1375136175 CA392712987	1037	R>C		No	ClinGen TOPMed
CA7599417 rs200637979	1037	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA7599418 rs372847514	1038	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372847514 CA7599419	1038	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144455448 CA7599422	1039	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144455448 CA7599421	1039	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599423 rs567066011	1040	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1443147922 CA392713031	1041	Q>R		No	ClinGen gnomAD
CA392713176 rs1243480747	1043	A>S		No	ClinGen gnomAD
CA7599449 rs780406121	1044	H>R		No	ClinGen ExAC gnomAD
CA7599448 rs772288412	1044	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs148931336 CA7599451	1045	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7599453 rs776541173	1046	A>S		No	ClinGen ExAC gnomAD
CA7599452 rs776541173	1046	A>T		No	ClinGen ExAC gnomAD
rs1394468683 CA392713208	1048	G>C		No	ClinGen gnomAD
rs769733100 CA7599454	1048	G>D		No	ClinGen ExAC gnomAD
rs1337663070 CA392713214	1049	P>L		No	ClinGen gnomAD
rs1567463777 CA392713221	1050	M>T		No	ClinGen Ensembl
rs762468551 CA7599456	1052	I>N		No	ClinGen ExAC TOPMed gnomAD
rs773030137 CA7599455	1052	I>V		No	ClinGen ExAC gnomAD
rs536287228 CA7599458	1053	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs989783032 CA271976340	1056	L>V		No	ClinGen gnomAD
rs150656070 CA7599459	1058	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs767177524 CA7599460	1058	T>M		No	ClinGen ExAC TOPMed gnomAD
rs757564453 CA7599462	1059	V>A		No	ClinGen ExAC gnomAD
rs765715536 CA7599463	1061	T>A		No	ClinGen ExAC gnomAD
CA392713289 rs573467780	1061	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7599464 rs573467780	1061	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA271976367 rs980532732	1064	N>I		No	ClinGen Ensembl
rs927658257 CA271976372	1064	N>K		No	ClinGen TOPMed
rs1477544050 CA392713320	1066	L>V		No	ClinGen gnomAD
CA7599465 rs201865870	1067	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs780324335 CA7599466	1068	D>E		No	ClinGen ExAC gnomAD
CA392713333 rs1200565613	1068	D>Y		No	ClinGen gnomAD
rs1047260654 CA271976383	1069	A>S		No	ClinGen TOPMed
CA392713344 rs1302605519	1070	K>E		No	ClinGen gnomAD
rs1304372957 CA392713346	1070	K>T		No	ClinGen TOPMed
rs1445224955 CA392713358	1071	M>I		No	ClinGen gnomAD
CA7599467 rs747216816	1071	M>V		No	ClinGen ExAC gnomAD
CA392713359 rs1192368727	1072	A>T		No	ClinGen TOPMed gnomAD
CA7599468 rs755204567	1073	A>V		No	ClinGen ExAC gnomAD
rs554886368 CA7599470	1074	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7599471 rs769491547	1077	Q>*		No	ClinGen ExAC
rs1283429966 CA392713399	1078	L>V		No	ClinGen TOPMed gnomAD
CA271976395 rs941650311	1079	K>M		No	ClinGen TOPMed gnomAD
CA392713412 rs1159125534	1080	P>A		No	ClinGen TOPMed
rs1455387195 CA392713415	1080	P>L		No	ClinGen TOPMed
rs1393529048 CA392713422	1082	P>T		No	ClinGen gnomAD
CA271976399 rs866942219	1083	G>E		No	ClinGen Ensembl
CA392713439 rs1255153705	1084	E>D		No	ClinGen gnomAD
rs773188059 CA7599472	1085	T>A		No	ClinGen ExAC TOPMed gnomAD
CA392713445 rs1181717235	1085	T>M		No	ClinGen TOPMed
CA392713459 rs1595803331	1086	L>V		No	ClinGen Ensembl
CA7599497 rs770176715	1089	C>F		No	ClinGen ExAC gnomAD
rs896106614 CA271977383	1089	C>R		No	ClinGen Ensembl
rs1306758049 CA392713485	1090	A>T		No	ClinGen gnomAD
rs1375904981 CA392713493	1091	Q>*		No	ClinGen gnomAD
rs373081828 CA7599499	1093	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA271977393 rs868702018	1096	T>I		No	ClinGen TOPMed
CA392713540 rs1481725197	1098	K>T		No	ClinGen gnomAD
rs759677311 CA7599502	1099	A>T		No	ClinGen ExAC gnomAD
CA7599503 rs201378780	1099	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs573496211 CA7599505	1102	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7599506 rs778085451	1103	S>F		No	ClinGen ExAC gnomAD
rs1313873778 CA392713574	1104	M>T		No	ClinGen Ensembl
rs1391362283 CA392713587	1106	Q>*		No	ClinGen TOPMed
CA392713612 rs1595803601	1110	C>Y		No	ClinGen Ensembl
CA392713621 rs1188588698	1111	A>G		No	ClinGen TOPMed
CA7599507 rs141890260	1112	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs141890260 CA392713624	1112	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392713638 rs1328886723	1114	G>D		No	ClinGen TOPMed gnomAD
CA7599508 rs200571535	1114	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs78723378 CA392713648	1115	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392713654 rs1376862997	1116	E>D		No	ClinGen gnomAD
CA7599511 rs200129296	1116	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7599512 rs779482118	1117	H>R		No	ClinGen ExAC gnomAD
rs1233814007 CA392713664	1118	Y>H		No	ClinGen Ensembl
CA7599513 rs746554976	1119	T>K		No	ClinGen ExAC gnomAD
rs1367317978 CA392714205	1120	G>E		No	ClinGen TOPMed gnomAD
rs1379504168 CA392714218	1122	A>G		No	ClinGen TOPMed
rs1567492321 CA392714216	1122	A>S		No	ClinGen Ensembl
CA7599536 rs529946809	1125	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs529946809 CA7599537	1125	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7599538 rs774906477	1126	T>A		No	ClinGen ExAC TOPMed gnomAD
rs535939717 CA271982004	1126	T>M		No	ClinGen gnomAD
rs772393234 CA7599540	1128	Q>R		No	ClinGen ExAC gnomAD
rs911685695 CA271982025	1131	K>Q		No	ClinGen Ensembl
rs1219188835 CA392714270	1131	K>R		No	ClinGen TOPMed
CA7599541 rs549159361	1132	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392714291 rs1346254542	1135	Q>E		No	ClinGen gnomAD
CA7599543 rs764221088	1135	Q>R		No	ClinGen ExAC gnomAD
rs776799987 CA392714300	1136	A>D		No	ClinGen ExAC TOPMed gnomAD
CA7599544 rs776799987	1136	A>G		No	ClinGen ExAC TOPMed gnomAD
rs776799987 CA271982030	1136	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7599546 rs765469297	1137	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1286838870 CA392714307	1138	R>C		No	ClinGen gnomAD
CA7599547 rs750147149	1138	R>H		No	ClinGen ExAC gnomAD
CA392714317 rs1230455157	1139	G>V		No	ClinGen TOPMed
rs534662953 CA392714334	1142	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534662953 CA7599548	1142	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000911579 CA7599549 rs77211356	1143	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA392714339 rs77211356	1143	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7599552 rs780892222	1145	T>A		No	ClinGen ExAC gnomAD
CA392714346 rs780892222	1145	T>P		No	ClinGen ExAC gnomAD
CA392714353 rs1595836246	1146	D>A		No	ClinGen Ensembl
CA7599554 rs571337288	1146	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs200271249 CA271982088	1146	D>N		No	ClinGen gnomAD
rs149154449 CA7599556	1147	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs777570072 CA7599555	1147	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7599559 VAR_014432 rs2280279	1148	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_059136 RCV000967363 rs2280279 CA7599558	1148	A>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs768697506 CA7599560	1148	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7599563 rs765379062	1150	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7599564 rs773501235	1150	A>V		No	ClinGen ExAC TOPMed gnomAD
CA392714378 rs1375179584	1151	H>R		No	ClinGen gnomAD
rs1056649955 CA271982125	1153	M>I		No	ClinGen TOPMed
CA7599566 rs766264914	1155	D>G		No	ClinGen ExAC gnomAD
CA271982130 rs896605778	1158	R>*		No	ClinGen gnomAD
CA392714422 rs896605778	1158	R>G		No	ClinGen gnomAD
rs759597569 CA392714423	1158	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7599568 rs759597569	1158	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA271982140 rs148050152	1159	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7599570 rs148050152	1159	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392714428 rs1204804339	1159	D>G		No	ClinGen gnomAD
rs767586831 CA7599569	1159	D>H		No	ClinGen ExAC gnomAD
CA7599572 rs140997624	1160	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599573 rs753590441	1161	M>L		No	ClinGen ExAC gnomAD
CA271982165 rs944397676	1162	E>D		No	ClinGen TOPMed gnomAD
rs758654364 CA7599574	1162	E>Q		No	ClinGen ExAC gnomAD
rs747353365 CA7599576	1163	G>A		No	ClinGen ExAC gnomAD
rs780513386 CA7599575	1163	G>C		No	ClinGen ExAC TOPMed gnomAD
CA7599578 rs1037722216	1165	A>S		No	ClinGen gnomAD
CA271982174 rs1037722216	1165	A>T		No	ClinGen gnomAD
rs898744991 CA271982180	1166	M>V		No	ClinGen TOPMed gnomAD
rs781668292 CA7599580	1167	L>V		No	ClinGen ExAC gnomAD
CA7599581 rs748172460	1168	I>T		No	ClinGen ExAC
CA392714477 rs1181591972	1168	I>V		No	ClinGen TOPMed gnomAD
rs769922438 CA7599582	1170	E>A		No	ClinGen ExAC gnomAD
rs769922438 CA392714493	1170	E>G		No	ClinGen ExAC gnomAD
rs773302555 CA7599583	1172	K>R		No	ClinGen ExAC TOPMed gnomAD
rs763276597 CA7599584	1173	Q>R		No	ClinGen ExAC gnomAD
rs770611626 CA7599585	1174	A>T		No	ClinGen ExAC TOPMed gnomAD
rs995530809 CA271982231	1175	L>P		No	ClinGen Ensembl
CA392714523 rs774148194	1175	L>V		No	ClinGen ExAC gnomAD
rs575749618 CA7599587	1176	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392714529 rs1456212636	1176	I>S		No	ClinGen TOPMed gnomAD
CA392714533 rs371013581	1177	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599588 rs371013581	1177	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs752740157 CA7599589	1178	P>L		No	ClinGen ExAC gnomAD
CA271982249 rs527611972	1179	G>V		No	ClinGen gnomAD
CA7599590 rs760256369	1180	D>V		No	ClinGen ExAC gnomAD
CA7599591 rs763696708	1183	R>C		No	ClinGen ExAC TOPMed gnomAD
rs763696708 CA392714569	1183	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7599592 rs141736961	1183	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392714570 rs141736961	1183	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392714581 rs1441325091	1185	Q>E		No	ClinGen TOPMed
CA392714586 rs1465348229	1185	Q>H		No	ClinGen gnomAD
CA392714583 rs746384574	1185	Q>P		No	ClinGen TOPMed
rs746384574 CA271982258	1185	Q>R		No	ClinGen TOPMed
CA392714592 rs1337767418	1186	R>S		No	ClinGen gnomAD
CA7599593 rs756883380	1187	L>P		No	ClinGen ExAC gnomAD
rs751858319 CA7599595	1189	Q>R		No	ClinGen ExAC gnomAD
CA7599621 rs779273306	1191	A>V		No	ClinGen ExAC gnomAD
rs369431778 CA392714649	1194	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599623 rs369431778	1194	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1364286286 CA392714664	1196	H>L		No	ClinGen TOPMed
CA392714667 rs1163451812	1197	S>P		No	ClinGen TOPMed
CA7599624 rs141872437	1200	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs141872437 CA271982910	1200	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs768569133 CA7599626	1202	V>I		No	ClinGen ExAC gnomAD
rs1178424591 CA392714712	1203	N>S		No	ClinGen TOPMed
CA7599628 rs761375815	1208	Q>R		No	ClinGen ExAC gnomAD
rs1167386567 CA392714749	1209	K>E		No	ClinGen gnomAD
rs990140783 CA271982941	1209	K>R		No	ClinGen TOPMed gnomAD
CA7599629 rs764724725	1210	D>G		No	ClinGen ExAC gnomAD
rs1293669649 CA392714766	1211	V>A		No	ClinGen gnomAD
CA392714762 rs1418561422	1211	V>M		No	ClinGen gnomAD
CA7599631 rs375284991	1213	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375284991 CA7599632	1213	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300289302 CA392714796	1216	K>M		No	ClinGen TOPMed gnomAD
rs1300289302 CA392714798	1216	K>R		No	ClinGen TOPMed gnomAD
CA392714797 rs1300289302	1216	K>T		No	ClinGen TOPMed gnomAD
CA392714801 rs1377393779	1217	S>R		No	ClinGen gnomAD
CA392714805 rs1242159836	1217	S>T		No	ClinGen TOPMed gnomAD
CA7599633 rs753021808	1218	I>V		No	ClinGen ExAC gnomAD
CA7599635 rs764647173	1219	G>V		No	ClinGen ExAC gnomAD
rs975926997 CA271982961	1222	S>G		No	ClinGen TOPMed
rs1267345103 CA392714838	1222	S>I		No	ClinGen gnomAD
CA7599636 rs754368814	1224	K>R		No	ClinGen ExAC gnomAD
CA7599637 rs757327682	1226	L>P		No	ClinGen ExAC gnomAD
CA7599638 rs779183403	1227	V>L		No	ClinGen ExAC gnomAD
CA7599640 rs758650990	1229	S>L		No	ClinGen ExAC TOPMed gnomAD
CA271983468 rs923580260	1230	L>P		No	ClinGen TOPMed gnomAD
CA7599667 rs774023256	1230	L>V		No	ClinGen ExAC gnomAD
rs759160379 CA7599668	1231	P>L		No	ClinGen ExAC gnomAD
rs1304516228 CA392714901	1231	P>S		No	ClinGen gnomAD
CA7599669 rs771779031	1232	P>A		No	ClinGen ExAC gnomAD
CA7599670 rs776816723	1232	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762239795 CA7599671	1234	T>M		No	ClinGen ExAC gnomAD
rs762239795 CA392714919	1234	T>R		No	ClinGen ExAC gnomAD
rs900930057 CA271983482	1236	P>A		No	ClinGen gnomAD
CA392714929 rs900930057	1236	P>T		No	ClinGen gnomAD
rs1275603412 CA392714956	1239	E>D		No	ClinGen gnomAD
CA7599674 rs763123793	1240	A>T		No	ClinGen ExAC gnomAD
rs766610691 CA7599675	1241	Q>*		No	ClinGen ExAC gnomAD
CA392714980 rs1344202694	1243	E>K		No	ClinGen TOPMed
rs1263311537 CA392715009	1247	A>T		No	ClinGen TOPMed gnomAD
CA271983506 rs761170265	1249	A>V		No	ClinGen Ensembl
rs752368957 CA7599680	1252	N>I		No	ClinGen ExAC
rs752004738 CA271983511	1252	N>K		No	ClinGen Ensembl
CA7599682 rs777680847	1256	G>R		No	ClinGen ExAC gnomAD
rs749262895 CA7599683	1259	V>F		No	ClinGen ExAC gnomAD
CA7599684 rs749262895	1259	V>I		No	ClinGen ExAC gnomAD
rs1414818378 CA392715088	1260	H>Y		No	ClinGen gnomAD
CA392715104 rs1020470942	1262	T>I		No	ClinGen gnomAD
rs1020470942 CA271983522	1262	T>S		No	ClinGen gnomAD
rs1298847329 CA392715106	1263	R>Q		No	ClinGen gnomAD
rs745410904 CA7599686	1263	R>W		No	ClinGen ExAC gnomAD
rs373940039 CA392715110	1264	G>R		No	ClinGen ESP gnomAD
rs373940039 CA271983534	1264	G>S		No	ClinGen ESP gnomAD
rs765039432 CA7599687	1266	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7599688 rs137912638	1267	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1221272877 CA392715157	1271	A>S		No	ClinGen gnomAD
rs1276997117 CA392715161	1272	A>T		No	ClinGen TOPMed gnomAD
rs770351196 CA7599690	1272	A>V		No	ClinGen ExAC gnomAD
rs143947451 CA7599693	1274	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA392715172 rs763607755	1274	G>R		No	ClinGen ExAC gnomAD
CA7599692 rs763607755	1274	G>R		No	ClinGen ExAC gnomAD
CA7599694 rs774255212	1276	F>Y		No	ClinGen ExAC gnomAD
CA7599695 rs759667352	1277	S>N		No	ClinGen ExAC gnomAD
CA392715198 rs1483875972	1278	D>N		No	ClinGen TOPMed gnomAD
rs368043999 CA271983569	1278	D>V		No	ClinGen ESP TOPMed gnomAD
rs1039183096 CA271983571	1279	D>E		No	ClinGen TOPMed
rs1192680148 CA392715231	1282	E>A		No	ClinGen gnomAD
CA392715232 rs1192680148	1282	E>G		No	ClinGen gnomAD
rs752324867 CA271983572	1283	F>L		No	ClinGen TOPMed gnomAD
CA392715243 rs1567499989	1284	L>I		No	ClinGen Ensembl
CA7599698 rs200569433	1285	D>N		No	ClinGen ExAC TOPMed gnomAD
CA392715263 rs1417935048	1287	G>S		No	ClinGen gnomAD
CA392715270 rs1350652727	1288	I>F		No	ClinGen gnomAD
rs757142471 CA7599701	1291	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392715323 rs1241419908	1295	Q>H		No	ClinGen gnomAD
rs1225759413 CA392715321	1295	Q>R		No	ClinGen TOPMed
rs1467799836 CA392715337	1296	T>P		No	ClinGen gnomAD
rs1567503057 CA392715344	1297	K>E		No	ClinGen Ensembl
CA7599720 rs765070888	1297	K>R		No	ClinGen ExAC gnomAD
CA7599721 rs750439021	1300	Q>R		No	ClinGen ExAC gnomAD
CA392715375 rs1181016961	1301	I>F		No	ClinGen gnomAD
rs757817955 CA7599722	1302	Q>R		No	ClinGen ExAC gnomAD
CA7599723 rs779665831	1304	I>L		No	ClinGen ExAC TOPMed gnomAD
rs201691761 CA7599725	1304	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7599724 rs746540453	1304	I>T		No	ClinGen ExAC TOPMed gnomAD
CA392715411 rs1264441756	1307	L>I		No	ClinGen TOPMed
rs1278059616 CA392715421	1308	K>R		No	ClinGen gnomAD
rs868248184 CA271984109	1311	S>L		No	ClinGen TOPMed
rs1398591034 CA392715446	1312	M>V		No	ClinGen gnomAD
CA392715459 rs1286221592	1313	A>V		No	ClinGen TOPMed
CA392715496 rs1342851772	1319	L>S		No	ClinGen gnomAD
CA392715504 rs1331585715	1320	A>V		No	ClinGen TOPMed
CA392715516 rs1303541495	1322	K>R		No	ClinGen TOPMed
rs779285512 CA7599730	1326	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746434371 CA7599731	1328	P>A		No	ClinGen ExAC gnomAD
rs756684464 CA271984130	1328	P>Q		No	ClinGen Ensembl
rs746434371 CA7599732	1328	P>T		No	ClinGen ExAC gnomAD
CA392715562 rs1259685073	1330	A>G		No	ClinGen gnomAD
rs140439308 CA7599733	1330	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760743776 CA7599734	1331	P>R		No	ClinGen ExAC gnomAD
CA392715566 rs1315841770	1331	P>S		No	ClinGen gnomAD
CA7599736 rs776896175	1332	N>S		No	ClinGen ExAC gnomAD
CA7599737 rs369042993	1333	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7599740 rs750306649	1340	A>V		No	ClinGen ExAC gnomAD
rs762145989 CA7599763	1343	A>G		No	ClinGen ExAC gnomAD
CA7599764 rs762145989	1343	A>V		No	ClinGen ExAC gnomAD
CA392715659 rs1361813047	1344	V>M		No	ClinGen gnomAD
CA392715677 rs1419756200	1346	E>D		No	ClinGen gnomAD
CA392715698 rs1368484320	1349	N>S		No	ClinGen gnomAD
rs377488539 CA271988193	1350	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377488539 CA271988186	1350	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7599767 rs117175127	1353	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1301663475 CA392715727	1354	L>V		No	ClinGen gnomAD
CA271988207 rs946705476	1359	A>S		No	ClinGen TOPMed
CA392715771 rs1230893756	1360	P>L		No	ClinGen TOPMed gnomAD
CA392715801 rs533453719	1364	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392715803 rs1284025521	1365	C>R		No	ClinGen gnomAD
rs1210673212 CA392715811	1366	D>H		No	ClinGen gnomAD
rs1210673212 CA392715810	1366	D>N		No	ClinGen gnomAD
rs867221786 CA271988230	1368	A>V		No	ClinGen gnomAD
rs1450232520 CA392715832	1369	L>V		No	ClinGen gnomAD
CA392715837 rs1442126844	1370	R>Q		No	ClinGen gnomAD
rs139690512 CA7599771	1370	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs755749049 CA7599772	1371	E>D		No	ClinGen ExAC gnomAD
rs777291481 CA7599773	1373	E>*		No	ClinGen ExAC gnomAD
rs777291481 CA392715853	1373	E>K		No	ClinGen ExAC gnomAD
rs1296376933 CA392715888	1376	K>R		No	ClinGen gnomAD
CA392715919 rs1314989544	1380	D>E		No	ClinGen gnomAD
rs766777022 CA7599800	1380	D>N		No	ClinGen ExAC gnomAD
rs751946050 CA7599801	1381	N>S		No	ClinGen ExAC TOPMed gnomAD
rs375428767 CA392715932	1382	P>L		No	ClinGen ESP TOPMed gnomAD
rs375428767 CA271989588	1382	P>R		No	ClinGen ESP TOPMed gnomAD
rs1259045466 CA392715934	1383	N>H		No	ClinGen gnomAD
CA392715956 rs1202948508	1386	V>F		No	ClinGen gnomAD
CA271989589 rs370583781	1389	L>V		No	ClinGen gnomAD
CA7599804 rs748202462	1393	D>H		No	ClinGen ExAC gnomAD
rs756210502 CA7599805	1395	I>V		No	ClinGen ExAC TOPMed gnomAD
CA392716030 rs1263033624	1396	E>D		No	ClinGen TOPMed
rs778056570 CA7599806	1396	E>K		No	ClinGen ExAC gnomAD
rs1191879623 CA392716033	1397	S>G		No	ClinGen TOPMed
rs1186785087 CA392716054	1399	M>I		No	ClinGen TOPMed gnomAD
rs1423975808 CA392716059	1400	E>G		No	ClinGen TOPMed gnomAD
rs1198428951 CA392716056	1400	E>K		No	ClinGen TOPMed
rs1410517440 CA392716081	1403	K>R		No	ClinGen gnomAD
rs1595881151 CA392716103	1404	V>G		No	ClinGen Ensembl
rs768659155 CA7599831	1408	S>L		No	ClinGen ExAC TOPMed gnomAD
rs768659155 CA7599832	1408	S>W		No	ClinGen ExAC TOPMed gnomAD
rs760149445 CA271990708	1410	A>V		No	ClinGen Ensembl
CA392716159 rs1313386870	1413	S>L		No	ClinGen TOPMed
CA7599834 rs769379857	1414	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA392716180 rs1336897068	1416	A>V		No	ClinGen TOPMed
rs772907708 CA7599835	1417	K>E		No	ClinGen ExAC gnomAD
CA7599836 rs759893350	1417	K>N		No	ClinGen ExAC TOPMed gnomAD
CA392716183 rs1331523254	1417	K>R		No	ClinGen TOPMed
rs1393780929 CA392716192	1418	T>I		No	ClinGen TOPMed
rs761041038 CA7599839	1419	G>R		No	ClinGen ExAC TOPMed gnomAD
CA271990731 rs970471420	1421	L>V		No	ClinGen Ensembl
CA271990743 rs369101652	1425	G>A		No	ClinGen Ensembl
CA392716236 rs1452993852	1426	E>K		No	ClinGen TOPMed gnomAD
CA7599845 rs544299687	1429	G>A		No	ClinGen ExAC gnomAD
rs544299687 CA271990746	1429	G>V		No	ClinGen ExAC gnomAD
CA392716265 rs1453765506	1430	I>V		No	ClinGen gnomAD
CA392716286 rs1161477023	1433	K>R		No	ClinGen TOPMed
rs1202557594 CA392716294	1434	A>V		No	ClinGen gnomAD
rs1382276158 CA392716298	1435	L>F		No	ClinGen TOPMed gnomAD
CA392716297 rs1382276158	1435	L>V		No	ClinGen TOPMed gnomAD
CA7599848 rs768412291	1436	C>S		No	ClinGen ExAC gnomAD
rs1250476544 CA392716311	1437	G>E		No	ClinGen gnomAD
CA7599849 rs199835181	1437	G>R		No	ClinGen 1000Genomes ExAC
CA392716315 rs1183952667	1438	L>V		No	ClinGen TOPMed
rs769363908 CA7599851	1439	T>A		No	ClinGen ExAC gnomAD
rs772823874 CA7599852	1439	T>I		No	ClinGen ExAC gnomAD
CA7599853 rs762645976	1441	A>D		No	ClinGen ExAC TOPMed gnomAD
CA392716334 rs762645976	1441	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7599854 rs770642632	1442	A>T		No	ClinGen ExAC gnomAD
CA392716340 rs1251248094	1442	A>V		No	ClinGen TOPMed
CA392716373 rs1476276258	1446	A>T		No	ClinGen gnomAD
rs1567531382 CA392716394	1449	V>F		No	ClinGen Ensembl
CA392716403 rs1417493544	1450	G>A		No	ClinGen gnomAD
rs747326797 CA7599875	1455	N>K		No	ClinGen ExAC TOPMed gnomAD
CA392716439 rs747326797	1455	N>K		No	ClinGen ExAC TOPMed gnomAD
CA392716440 rs1595884573	1456	S>R		No	ClinGen Ensembl
rs943883697 CA271991478	1456	S>T		No	ClinGen TOPMed
rs1372458455 CA392716449	1457	Q>*		No	ClinGen TOPMed
rs769179293 CA7599876	1457	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7599877 rs777255002	1458	A>V		No	ClinGen ExAC gnomAD
CA392716462 rs1327549678	1459	G>D		No	ClinGen gnomAD
rs765874195 CA7599879	1460	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1416175262 CA392716477	1461	Q>R		No	ClinGen gnomAD
CA271991506 rs968418102	1462	G>S		No	ClinGen Ensembl
CA392716495 rs1354478589	1464	V>A		No	ClinGen gnomAD
rs918493900 CA271991520	1466	P>L		No	ClinGen TOPMed
CA392716504 rs1271743199	1466	P>T		No	ClinGen gnomAD
rs1339257698 CA392716534	1470	A>S		No	ClinGen TOPMed gnomAD
rs1413652346 CA392716577	1476	I>T		No	ClinGen TOPMed
CA392716587 rs1486691346	1477	Q>H		No	ClinGen gnomAD
rs751875393 CA7599884	1478	M>L		No	ClinGen ExAC TOPMed gnomAD
CA271991538 rs200880219	1478	M>T		No	ClinGen Ensembl
rs751875393 CA7599883	1478	M>V		No	ClinGen ExAC TOPMed gnomAD
CA392716599 rs1253343796	1479	A>V		No	ClinGen TOPMed
CA392716602 rs1179648050	1480	C>G		No	ClinGen TOPMed
CA392716601 rs1179648050	1480	C>R		No	ClinGen TOPMed
CA392716611 rs1478295210	1481	Q>R		No	ClinGen gnomAD
rs1195730287 CA392716636	1484	V>G		No	ClinGen TOPMed gnomAD
CA271991545 rs749234925	1487	G>D		No	ClinGen Ensembl
rs1436031199 CA392716683	1491	S>L		No	ClinGen gnomAD
CA7599911 rs778436778	1496	A>V		No	ClinGen ExAC gnomAD
rs373813759 CA7599913	1497	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392716738 rs1239388980	1499	I>V		No	ClinGen gnomAD
rs779865609 CA7599914	1500	V>F		No	ClinGen ExAC gnomAD
CA7599915 rs779865609	1500	V>L		No	ClinGen ExAC gnomAD
rs770349043 CA7599916	1501	A>S		No	ClinGen ExAC gnomAD
CA392716752 rs1361676107	1501	A>V		No	ClinGen gnomAD
rs971845167 CA271992432	1503	H>Y		No	ClinGen Ensembl
CA7599919 rs372515133	1504	T>K		No	ClinGen ESP ExAC gnomAD
rs372515133 CA7599918	1504	T>M		No	ClinGen ESP ExAC gnomAD
rs1459752264 CA392716782	1506	A>G		No	ClinGen gnomAD
CA7599923 rs375776823	1511	C>S		No	ClinGen ESP ExAC gnomAD
CA271992466 rs910259112	1512	R>C		No	ClinGen Ensembl
rs1304993373 CA392716822	1512	R>H		No	ClinGen TOPMed gnomAD
rs4775538 CA392716830	1513	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7599924 rs760428917	1513	I>V		No	ClinGen ExAC gnomAD
CA7599927 rs753596011	1514	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7599926 rs753596011	1514	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392716848 rs1259241569	1517	K>E		No	ClinGen gnomAD
rs758040600 CA7599930	1517	K>N		No	ClinGen ExAC TOPMed gnomAD
rs749890833 CA7599929	1517	K>R		No	ClinGen ExAC gnomAD
rs779849306 CA392716856	1518	T>K		No	ClinGen ExAC TOPMed gnomAD
CA7599931 rs779849306	1518	T>M		No	ClinGen ExAC TOPMed gnomAD
CA271992481 rs956996517	1520	N>S		No	ClinGen TOPMed
CA392716873 rs1335172515	1521	P>A		No	ClinGen TOPMed
CA392716875 rs1374033759	1521	P>L		No	ClinGen TOPMed
CA392716872 rs1335172515	1521	P>S		No	ClinGen TOPMed
rs1042532320 CA271992483	1522	V>I		No	ClinGen gnomAD
CA271992485 rs201396634	1524	K>R		No	ClinGen TOPMed gnomAD
rs1011363290 CA271992497	1526	H>Q		No	ClinGen TOPMed gnomAD
rs751299336 CA392716917	1528	V>F		No	ClinGen ExAC gnomAD
CA7599932 rs751299336	1528	V>I		No	ClinGen ExAC gnomAD
rs1422337940 CA392716924	1529	Q>*		No	ClinGen TOPMed
CA392716926 rs1164018385	1529	Q>R		No	ClinGen gnomAD
CA392716943 rs1595888712	1532	K>E		No	ClinGen Ensembl
CA7599935 rs140625492	1534	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779305494 CA7599937	1535	A>T		No	ClinGen ExAC TOPMed gnomAD
rs374616774 CA271992525	1537	S>G		No	ClinGen ESP TOPMed
rs1353851297 CA392717004	1541	L>V		No	ClinGen gnomAD
rs922738871 CA271992550	1542	V>M		No	ClinGen TOPMed
rs1296779664 CA392717026	1544	T>I		No	ClinGen gnomAD
CA7599941 rs747182599	1546	K>R		No	ClinGen ExAC gnomAD
CA392693129 rs1434268589	1547	A>G		No	ClinGen gnomAD
CA392693144 rs1371824984	1550	G>R		No	ClinGen TOPMed
CA392693154 rs1567547637	1551	D>V		No	ClinGen Ensembl
CA7599965 rs762936331	1551	D>Y		No	ClinGen ExAC gnomAD
CA271963486 rs1022890871	1552	F>L		No	ClinGen TOPMed
rs1429039253 CA392693166	1553	S>A		No	ClinGen gnomAD
rs139323765 CA7599966	1555	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7599967 rs773933667	1557	R>C		No	ClinGen ExAC gnomAD
rs372836069 CA392693195	1557	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372836069 CA7599968	1557	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166658709 CA392693198	1558	N>D		No	ClinGen TOPMed
CA392693197 rs1166658709	1558	N>H		No	ClinGen TOPMed
rs755322576 CA7599969	1558	N>S		No	ClinGen ExAC TOPMed gnomAD
CA271963513 rs369554074	1561	R>C		No	ClinGen TOPMed gnomAD
CA392693221 rs369554074	1561	R>G		No	ClinGen TOPMed gnomAD
CA7599970 rs376520234	1561	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376520234 CA271963517	1561	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs757616114 CA7599972	1562	I>F		No	ClinGen ExAC TOPMed gnomAD
CA392693226 rs1318393161	1562	I>S		No	ClinGen TOPMed gnomAD
rs1318393161 CA392693225	1562	I>T		No	ClinGen TOPMed gnomAD
rs757616114 CA7599971	1562	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7599974 rs765463024	1563	A>T		No	ClinGen ExAC gnomAD
CA7599976 rs747078382	1564	T>I		No	ClinGen ExAC TOPMed gnomAD
rs143603462 CA7599978	1565	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs577334282 CA7599979	1565	A>V		No	ClinGen ExAC gnomAD
CA392693289 rs770078769	1566	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7599980 rs770078769	1566	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7599982 rs749102658	1567	L>S		No	ClinGen ExAC gnomAD
rs1320364937 CA392693316	1568	I>T		No	ClinGen TOPMed gnomAD
CA392693355 rs1366343869	1572	E>*		No	ClinGen gnomAD
rs1463402139 CA392693371	1573	N>T		No	ClinGen gnomAD
CA392693402 rs1367885968	1576	A>T		No	ClinGen TOPMed
CA7599985 rs759051721	1576	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7599988 rs775085331	1578	A>S		No	ClinGen ExAC TOPMed gnomAD
rs775085331 CA7599987	1578	A>T		No	ClinGen ExAC TOPMed gnomAD
rs763365243 CA7599991	1582	E>K		No	ClinGen ExAC gnomAD
rs1215398156 CA392693511	1586	I>V		No	ClinGen gnomAD
CA7599993 rs141621869	1591	S>N		No	ClinGen ESP ExAC
rs74381092 CA271963628	1591	S>R		No	ClinGen ExAC gnomAD
CA392693606 rs1234700579	1593	E>K		No	ClinGen TOPMed gnomAD
CA392693607 rs1234700579	1593	E>Q		No	ClinGen TOPMed gnomAD
rs1475988838 CA392693692	1594	G>V		No	ClinGen gnomAD
rs751977221 CA7600011	1595	S>F		No	ClinGen ExAC TOPMed gnomAD
rs759921550 CA7600012	1597	A>G		No	ClinGen ExAC gnomAD
CA7600013 rs768074660	1598	Q>P		No	ClinGen ExAC gnomAD
CA7600014 rs752665082	1599	E>D		No	ClinGen ExAC gnomAD
CA392693893 rs1310791489	1603	V>D		No	ClinGen gnomAD
rs778140968 CA7600016	1603	V>F		No	ClinGen ExAC gnomAD
rs754158751 CA7600017	1605	A>V		No	ClinGen ExAC gnomAD
CA7600018 rs757572370	1606	K>R		No	ClinGen ExAC gnomAD
CA7600019 rs150096125	1607	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs745678246 CA7600020	1608	M>K		No	ClinGen ExAC TOPMed gnomAD
rs973124207 CA271964207	1608	M>V		No	ClinGen TOPMed gnomAD
rs1400606094 CA392693993	1609	L>V		No	ClinGen TOPMed
CA7600021 rs758210390	1611	S>N		No	ClinGen ExAC gnomAD
CA392694051 rs1406674251	1611	S>R		No	ClinGen TOPMed
CA7600022 rs190697613	1613	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768194205 CA7600024	1615	L>F		No	ClinGen ExAC gnomAD
rs866187981 CA271964230	1617	R>C		No	ClinGen gnomAD
rs776245129 CA7600025	1617	R>H		No	ClinGen ExAC TOPMed gnomAD
CA392694173 rs776245129	1617	R>L		No	ClinGen ExAC TOPMed gnomAD
rs866187981 CA392694169	1617	R>S		No	ClinGen gnomAD
rs747751029 CA7600026	1618	T>A		No	ClinGen ExAC gnomAD
rs142760429 CA7600027	1619	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA392694218 rs1567549540	1619	A>V		No	ClinGen Ensembl
CA7600028 rs200886764	1620	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759961268 CA7600029	1623	A>V		No	ClinGen ExAC gnomAD
CA7600031 rs776134627	1624	I>V		No	ClinGen ExAC gnomAD
CA392694443 rs1382540517	1629	P>L		No	ClinGen TOPMed gnomAD
CA7600032 rs760810270	1631	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1434298146 CA392694551	1634	V>L		No	ClinGen TOPMed gnomAD
CA392694603 rs1364576234	1638	H>L		No	ClinGen TOPMed
CA392694595 rs1229631722	1638	H>Y		No	ClinGen TOPMed
CA7600033 rs764217201	1639	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7600034 rs753999294	1642	V>G		No	ClinGen ExAC TOPMed gnomAD
CA7600035 rs757484094	1643	S>C		No	ClinGen ExAC gnomAD
CA7600037 rs750169478	1644	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7600039 rs779823845	1646	I>M		No	ClinGen ExAC gnomAD
CA7600041 rs754931452	1649	L>V		No	ClinGen ExAC gnomAD
CA7600042 rs780642275	1652	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1421447074 CA392694797	1653	I>M		No	ClinGen TOPMed
rs769507560 CA7600043	1653	I>V		No	ClinGen ExAC TOPMed gnomAD
CA271965039 rs900107754	1655	D>H		No	ClinGen TOPMed
rs900107754 CA392694887	1655	D>N		No	ClinGen TOPMed
CA392694919 rs1350159951	1657	A>G		No	ClinGen gnomAD
CA392694948 rs1200325708	1660	Q>H		No	ClinGen Ensembl
CA392694945 rs1234235238	1660	Q>R		No	ClinGen gnomAD
rs937712361 CA271965052	1661	R>K		No	ClinGen TOPMed
CA392694991 rs1471644549	1664	D>G		No	ClinGen gnomAD
rs747388641 CA7600067	1667	I>V		No	ClinGen ExAC gnomAD
rs149627024 CA271965108	1668	D>N		No	ClinGen ESP TOPMed gnomAD
CA7600070 rs768302958	1670	I>L		No	ClinGen ExAC gnomAD
rs768302958 CA7600071	1670	I>V		No	ClinGen ExAC gnomAD
rs896247023 CA392695069	1671	N>K		No	ClinGen TOPMed gnomAD
rs1255255291 CA392695065	1671	N>S		No	ClinGen TOPMed
CA392695071 rs373058762	1672	R>G		No	ClinGen ESP ExAC gnomAD
CA7600073 rs763194576	1672	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs373058762 CA7600072	1672	R>W		No	ClinGen ESP ExAC gnomAD
rs1215802539 CA392695081	1673	C>F		No	ClinGen TOPMed
rs766515845 CA7600074	1674	I>F		No	ClinGen ExAC gnomAD
rs1318369032 CA392695089	1674	I>M		No	ClinGen TOPMed
rs1163969133 CA392695087	1674	I>T		No	ClinGen gnomAD
CA7600076 rs372775961	1675	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600075 rs202059168	1675	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA392695107 rs148806117	1677	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1458131072 CA392695108	1678	E>K		No	ClinGen gnomAD
rs1415634375 CA392695113	1678	E>V		No	ClinGen gnomAD
CA392695135 rs1315110366	1681	S>L		No	ClinGen gnomAD
CA7600080 rs777292508	1682	L>V		No	ClinGen ExAC gnomAD
CA392695155 rs1229909392	1684	A>T		No	ClinGen TOPMed gnomAD
CA392695162 rs1595910356	1684	A>V		No	ClinGen Ensembl
CA7600083 rs778764343	1685	V>I		No	ClinGen ExAC TOPMed gnomAD
CA392695175 rs1158319347	1686	S>G		No	ClinGen TOPMed
rs747372087 CA271965179	1688	S>I		No	ClinGen ExAC TOPMed gnomAD
rs747372087 CA7600084	1688	S>N		No	ClinGen ExAC TOPMed gnomAD
CA392695202 rs1435550666	1688	S>R		No	ClinGen TOPMed
rs1197198484 CA392695221	1690	A>P		No	ClinGen TOPMed
rs147117916 CA7600087 RCV000913286	1691	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781758770 CA7600086	1691	T>S		No	ClinGen ExAC TOPMed gnomAD
rs370731939 CA7600089	1693	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430272230 CA392695252	1693	D>N		No	ClinGen gnomAD
rs771130329 CA7600091	1694	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1435481083 CA392695301	1697	V>L		No	ClinGen gnomAD
CA392695300 rs1435481083	1697	V>M		No	ClinGen gnomAD
CA7600092 rs774625013	1698	E>K		No	ClinGen ExAC gnomAD
CA392696313 rs1290753910	1699	A>D		No	ClinGen TOPMed
rs776501343 CA7600116	1705	T>S		No	ClinGen ExAC TOPMed gnomAD
rs142261304 CA7600118	1706	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392696503 rs1463482588	1708	V>F		No	ClinGen gnomAD
CA392696568 rs1435217676	1711	I>V		No	ClinGen gnomAD
CA392696586 rs1345275868	1712	G>E		No	ClinGen TOPMed
rs749815202 CA7600125	1712	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7600126 rs757771992	1713	H>P		No	ClinGen ExAC gnomAD
CA392696636 rs1335320458	1716	D>N		No	ClinGen TOPMed gnomAD
CA392696653 rs1229971520	1717	P>S		No	ClinGen TOPMed gnomAD
CA271967126 rs1049284012	1718	I>V		No	ClinGen TOPMed
rs763616420 CA7600129	1719	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392696706 rs1254213530	1721	A>V		No	ClinGen gnomAD
rs368056514 CA271967172	1722	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368056514 CA7600132	1722	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs200045232 CA7600135	1723	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200045232 CA7600136	1723	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146711240 CA7600133	1723	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1413757301 CA392696715	1724	G>R		No	ClinGen gnomAD
CA7600138 rs766023069	1726	A>V		No	ClinGen ExAC gnomAD
rs1379731797 CA392696739	1727	A>V		No	ClinGen TOPMed gnomAD
rs1595919540 CA392696752	1729	L>P		No	ClinGen Ensembl
rs761085415 CA7600140	1731	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7600183 rs749177577	1733	V>G		No	ClinGen ExAC gnomAD
CA7600182 rs201711971	1733	V>L		No	ClinGen ExAC TOPMed gnomAD
rs201711971 CA7600181	1733	V>M		No	ClinGen ExAC TOPMed gnomAD
rs773690917 CA7600185	1734	T>K		No	ClinGen ExAC
rs1322431663 CA392697699	1734	T>S		No	ClinGen gnomAD
rs775195001 CA7600188	1735	Q>P		No	ClinGen ExAC
rs762154693 CA7600189	1738	S>N		No	ClinGen ExAC TOPMed gnomAD
rs957554849 CA271971132	1739	Y>F		No	ClinGen Ensembl
rs765530701 CA7600190	1740	F>L		No	ClinGen ExAC gnomAD
rs908294038 CA392697844	1741	E>*		No	ClinGen TOPMed gnomAD
rs1274544421 CA392697850	1741	E>D		No	ClinGen gnomAD
rs908294038 CA271971145	1741	E>K		No	ClinGen TOPMed gnomAD
CA392697894 rs1230667028	1743	L>F		No	ClinGen TOPMed gnomAD
rs763329365 CA392697904	1744	I>F		No	ClinGen ExAC TOPMed gnomAD
rs763329365 CA7600192	1744	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7600194 rs751569576	1747	A>T		No	ClinGen ExAC gnomAD
CA7600196 rs767846902	1748	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7600195 rs755125047	1748	V>I		No	ClinGen ExAC gnomAD
CA392698028 rs1472783969	1750	V>M		No	ClinGen gnomAD
rs149940780 CA392698051	1751	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs149940780 CA7600197	1751	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392698114 rs1421909436	1753	K>N		No	ClinGen TOPMed
CA271971184 rs547625561	1753	K>R		No	ClinGen 1000Genomes
rs756415845 CA7600198	1755	L>V		No	ClinGen ExAC gnomAD
rs1294128316 CA392698180	1756	D>G		No	ClinGen gnomAD
CA392698173 rs1456646331	1756	D>Y		No	ClinGen gnomAD
rs777641588 CA7600199	1757	H>R		No	ClinGen ExAC gnomAD
rs1037901609 CA271971188	1758	Q>E		No	ClinGen TOPMed gnomAD
CA392698261 rs1323104344	1758	Q>H		No	ClinGen gnomAD
rs1037901609 CA392698230	1758	Q>K		No	ClinGen TOPMed gnomAD
rs1351386849 CA392698373	1762	T>M		No	ClinGen gnomAD
CA392698428 rs778953928	1765	D>E		No	ClinGen ExAC gnomAD
CA392698474 rs1234428894	1768	K>E		No	ClinGen gnomAD
CA392698480 rs745369779	1768	K>R		No	ClinGen ExAC gnomAD
CA7600203 rs745369779	1768	K>T		No	ClinGen ExAC gnomAD
CA392698528 rs746598804	1771	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746598804 CA7600206	1771	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7600207 rs768330922	1772	E>A		No	ClinGen ExAC gnomAD
CA392698634 rs1236595046	1776	Q>R		No	ClinGen TOPMed
CA271971266 rs965051919	1777	M>I		No	ClinGen Ensembl
rs200011295 CA271971257	1777	M>L		No	ClinGen Ensembl
rs1204747002 CA392698689	1778	L>S		No	ClinGen TOPMed
rs766763432 CA392698723	1779	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs766763432 CA7600210	1779	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA392698751 rs1472174706	1780	A>E		No	ClinGen TOPMed gnomAD
CA392698781 rs1206096300	1782	K>R		No	ClinGen TOPMed gnomAD
CA7600212 rs759518913	1786	G>R		No	ClinGen ExAC gnomAD
CA392698888 rs1314702218	1788	P>R		No	ClinGen TOPMed
rs767646168 CA7600213	1789	K>M		No	ClinGen ExAC TOPMed gnomAD
CA7600235 rs754151767	1794	H>N		No	ClinGen ExAC gnomAD
rs898238364 CA271974709	1794	H>P		No	ClinGen TOPMed gnomAD
rs765019963 CA7600238	1796	A>S		No	ClinGen ExAC TOPMed gnomAD
rs765019963 CA7600237	1796	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1433988173 CA392701511	1797	I>T		No	ClinGen gnomAD
rs1178616347 CA392701569	1799	E>D		No	ClinGen TOPMed gnomAD
CA7600242 rs141816570	1801	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7600241 rs141816570	1801	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1391531273 CA392701679	1802	Q>H		No	ClinGen gnomAD
CA271974735 rs1020480196	1802	Q>K		No	ClinGen Ensembl
rs1219460637 CA392701807	1806	E>D		No	ClinGen gnomAD
CA7600247 rs779294323	1808	V>M		No	ClinGen ExAC TOPMed gnomAD
CA392701889 rs1222724908	1809	D>G		No	ClinGen gnomAD
rs1206828898 CA392701939	1811	I>T		No	ClinGen gnomAD
CA392701966 rs1344287500	1812	M>T		No	ClinGen TOPMed
CA392701994 rs1488882737	1813	V>M		No	ClinGen gnomAD
rs534142456 CA7600252	1814	T>M		No	ClinGen ExAC TOPMed gnomAD
rs958986014 CA271974770	1815	L>V		No	ClinGen TOPMed
rs750212041 CA7600256	1816	N>S		No	ClinGen ExAC gnomAD
CA7600258 rs766298325	1817	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1344075925 CA392702168	1819	A>V		No	ClinGen gnomAD
CA271974781 rs932447354	1823	G>R		No	ClinGen TOPMed gnomAD
CA271974789 rs1051018095	1825	V>A		No	ClinGen TOPMed
CA392702317 rs1404071219	1825	V>F		No	ClinGen gnomAD
CA392702336 rs1288758203	1826	G>R		No	ClinGen gnomAD
CA392702410 rs1595955802	1829	V>G		No	ClinGen Ensembl
rs1331061418 CA392702417	1830	D>H		No	ClinGen gnomAD
rs1331061418 CA392702414	1830	D>N		No	ClinGen gnomAD
rs138052939 CA7600262	1831	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7600263 rs752176823	1832	I>M		No	ClinGen ExAC TOPMed gnomAD
CA392702523 rs1223926842	1834	E>G		No	ClinGen gnomAD
CA7600264 rs200375758	1834	E>K		No	ClinGen ExAC TOPMed gnomAD
rs777336139 CA7600265	1835	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1183255388 CA392702566	1836	M>I		No	ClinGen gnomAD
CA7600266 rs746200886	1836	M>V		No	ClinGen ExAC TOPMed gnomAD
rs772626421 CA392702581	1837	S>I		No	ClinGen ExAC gnomAD
rs772626421 CA7600267	1837	S>N		No	ClinGen ExAC gnomAD
rs772626421 CA7600268	1837	S>T		No	ClinGen ExAC gnomAD
CA7600286 rs753487776	1839	L>R		No	ClinGen ExAC gnomAD
rs1322516973 CA392703392	1839	L>V		No	ClinGen TOPMed
rs1300038392 CA392703405	1840	D>G		No	ClinGen gnomAD
CA392703399 rs1229277678	1840	D>N		No	ClinGen gnomAD
CA271976960 rs763841570	1842	G>R		No	ClinGen TOPMed gnomAD
rs1022021215 CA271976963	1843	T>I		No	ClinGen TOPMed gnomAD
CA7600288 rs780528638	1844	P>L		No	ClinGen ExAC gnomAD
CA392703462 rs1208636481	1846	E>K		No	ClinGen TOPMed gnomAD
rs565973765 CA7600290	1847	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs150674208 CA7600291	1851	F>I		No	ClinGen ExAC gnomAD
CA7600292 rs138929602	1852	V>F		No	ClinGen ExAC gnomAD
CA7600293 rs769821538	1853	D>N		No	ClinGen ExAC gnomAD
rs149434344 CA7600294	1854	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs968910496 CA271976987	1854	Y>N		No	ClinGen TOPMed
CA392703577 rs1246171790	1855	Q>R		No	ClinGen TOPMed
rs749446267 CA7600295	1856	T>M		No	ClinGen ExAC TOPMed gnomAD
rs373344112 CA392703612	1858	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600296 rs373344112	1858	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs759294170 CA7600298	1864	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7600299 rs767456509	1864	A>V		No	ClinGen ExAC gnomAD
CA392703692 rs1226953853	1865	I>T		No	ClinGen gnomAD
CA7600300 rs775354082	1865	I>V		No	ClinGen ExAC gnomAD
rs377502147 CA392703703	1866	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs377502147 CA7600301	1866	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600303 rs141920011	1867	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA271977037 rs141920011	1867	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs146289948 CA7600304	1869	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs765032792 CA7600305	1870	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs751941359 CA7600306	1871	E>K		No	ClinGen ExAC gnomAD
CA392703778 rs1227441792	1872	M>I		No	ClinGen gnomAD
CA7600341 rs757391681	1873	M>I		No	ClinGen ExAC gnomAD
CA392704641 rs1169453827	1875	K>R		No	ClinGen TOPMed
rs997190420 CA271978415	1876	S>L		No	ClinGen TOPMed gnomAD
CA7600343 rs7182971 VAR_055314	1877	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA271978418 rs955076721	1878	T>N		No	ClinGen Ensembl
CA7600347 rs746874165	1880	P>L		No	ClinGen ExAC
rs1248280572 CA392704776	1882	E>D		No	ClinGen gnomAD
rs776776453 CA392704774	1882	E>G		No	ClinGen ExAC gnomAD
CA7600349 rs776776453	1882	E>V		No	ClinGen ExAC gnomAD
rs1187226434 CA392704782	1883	L>V		No	ClinGen TOPMed
CA7600352 rs772782274	1885	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7600353 rs762471763	1886	L>M		No	ClinGen ExAC gnomAD
rs1595980396 CA392704822	1886	L>P		No	ClinGen Ensembl
CA271978461 rs766078380	1887	A>S		No	ClinGen ExAC TOPMed gnomAD
rs766078380 CA7600354	1887	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392704874 rs1431962092	1890	M>I		No	ClinGen gnomAD
rs752981885 CA7600355	1890	M>K		No	ClinGen ExAC gnomAD
rs761064562 CA7600356	1891	T>I		No	ClinGen ExAC gnomAD
CA392704899 rs1274414668	1892	S>G		No	ClinGen TOPMed
rs868515358 CA271978498	1893	D>N		No	ClinGen Ensembl
CA392704934 rs1397109515	1894	Y>D		No	ClinGen gnomAD
rs1315516152 CA392705013	1899	F>V		No	ClinGen gnomAD
rs888257292 CA271978504	1900	Q>*		No	ClinGen TOPMed
CA392705036 rs1595980497	1900	Q>P		No	ClinGen Ensembl
CA392705048 rs1384325448	1901	G>S		No	ClinGen gnomAD
CA7600359 rs757772124	1902	Q>H		No	ClinGen ExAC gnomAD
rs376704356 CA271978525	1907	T>M		No	ClinGen ESP TOPMed gnomAD
rs780367954 CA7600363	1908	A>T		No	ClinGen ExAC
CA7600364 rs746776895	1908	A>V		No	ClinGen ExAC gnomAD
rs1399254111 CA392705190	1909	E>D		No	ClinGen TOPMed
rs1595980586 CA392705182	1909	E>G		No	ClinGen Ensembl
CA7600366 rs781149965	1910	P>S		No	ClinGen ExAC gnomAD
rs1286611882 CA392707686	1913	I>V		No	ClinGen TOPMed
rs756000797 CA7600405	1914	G>R		No	ClinGen ExAC TOPMed gnomAD
rs777554648 CA7600406	1915	F>C		No	ClinGen ExAC TOPMed gnomAD
CA271990003 rs953704886	1915	F>L		No	ClinGen TOPMed gnomAD
CA7600407 rs202223044	1918	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7600408 rs757144126	1918	R>H		No	ClinGen ExAC gnomAD
rs745389212 CA7600410	1920	R>C		No	ClinGen ExAC TOPMed gnomAD
CA271990029 rs745389212	1920	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7600411 rs771686056	1920	R>H		No	ClinGen ExAC gnomAD
rs779752885 CA392707898	1921	V>L		No	ClinGen ExAC gnomAD
rs779752885 CA7600412	1921	V>M		No	ClinGen ExAC gnomAD
rs748499528 CA7600413	1922	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs748499528 CA271990072	1922	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA271990077 rs200813507	1923	D>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs773455583 CA7600415	1924	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7600417 rs531283552	1925	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7600418 rs549847004	1926	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs568351861 CA7600420	1927	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567616111 CA392708037	1928	C>F		No	ClinGen Ensembl
CA392708054 rs1206340235	1929	I>V		No	ClinGen TOPMed gnomAD
rs760817577 CA7600423	1932	V>L		No	ClinGen ExAC TOPMed gnomAD
rs760817577 CA7600422	1932	V>M		No	ClinGen ExAC TOPMed gnomAD
CA392708118 rs1469055726	1933	Q>P		No	ClinGen gnomAD
CA392708139 rs1295437895	1934	K>N		No	ClinGen TOPMed
rs1567616190 CA392708177	1936	G>E		No	ClinGen Ensembl
rs757198815 CA7600425	1937	A>S		No	ClinGen ExAC gnomAD
CA392708195 rs757198815	1937	A>T		No	ClinGen ExAC gnomAD
rs201901108 CA7600426	1939	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7600427 rs749934405	1940	V>I		No	ClinGen ExAC gnomAD
rs1423725409 CA392708305	1945	S>G		No	ClinGen gnomAD
rs1055721047 CA392708311	1945	S>I		No	ClinGen TOPMed gnomAD
CA271990133 rs1055721047	1945	S>N		No	ClinGen TOPMed gnomAD
rs1356152895 CA392708354	1951	L>P		No	ClinGen gnomAD
CA7600434 rs749661984	1952	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7600435 rs775063929	1953	E>K		No	ClinGen ExAC TOPMed gnomAD
CA392708389 rs759671067	1954	C>W		No	ClinGen ExAC gnomAD
rs772217253 CA7600438	1955	A>S		No	ClinGen ExAC TOPMed gnomAD
rs772217253 CA7600437	1955	A>T		No	ClinGen ExAC TOPMed gnomAD
rs748443009 CA271990162	1956	R>C		No	ClinGen TOPMed gnomAD
rs555995247 CA7600440	1956	R>H		No	ClinGen ExAC TOPMed gnomAD
rs375769813 CA7600442	1958	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs140861754 CA7600443	1959	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140861754 CA271990193	1959	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1184935282 CA392708463	1961	K>N		No	ClinGen gnomAD
CA392708459 rs1222924157	1961	K>R		No	ClinGen TOPMed
rs1291787988 CA392708846	1965	V>A		No	ClinGen TOPMed
CA7600472 rs368653121	1967	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317049057 CA392708919	1971	A>D		No	ClinGen Ensembl
rs1321058334 CA392708913	1971	A>S		No	ClinGen TOPMed gnomAD
rs1055494414 CA271992391	1972	G>R		No	ClinGen TOPMed
rs1454339715 CA392708938	1973	N>S		No	ClinGen gnomAD
rs747101658 CA7600475	1974	K>E		No	ClinGen ExAC gnomAD
CA7600476 rs768565406	1974	K>R		No	ClinGen ExAC TOPMed
rs1596025326 CA392708956	1976	T>P		No	ClinGen Ensembl
rs987100441 CA271992400	1976	T>S		No	ClinGen TOPMed gnomAD
rs1437838650 CA392708966	1977	Q>E		No	ClinGen TOPMed
CA392708977 rs1304055324	1978	A>T		No	ClinGen gnomAD
rs748330060 CA7600478	1979	C>R		No	ClinGen ExAC gnomAD
rs1283146327 CA392709018	1981	T>I		No	ClinGen gnomAD
rs1596025408 CA392709010	1981	T>P		No	ClinGen Ensembl
rs770027746 CA7600479	1982	A>D		No	ClinGen ExAC gnomAD
CA7600481 rs762774877	1983	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7600482 rs770896044	1984	T>I		No	ClinGen ExAC
rs375134469 CA392709050	1985	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600484 rs375134469	1985	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473269240 CA392709059	1986	V>M		No	ClinGen TOPMed
CA392709075 rs1220017708	1987	S>P		No	ClinGen gnomAD
CA7600485 rs766866644	1988	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7600486 rs369581430	1989	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA271992425 rs774483219	1992	D>N		No	ClinGen Ensembl
rs763886181 CA7600488	1994	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7600490 rs758894635	1995	T>A		No	ClinGen ExAC gnomAD
CA392709260 rs1268975343	1997	I>T		No	ClinGen TOPMed
rs1397759766 CA392709243	1997	I>V		No	ClinGen gnomAD
CA392709319 rs1393632234	2000	A>P		No	ClinGen gnomAD
rs1327509878 CA392709336	2001	T>A		No	ClinGen gnomAD
CA7600492 rs199628532	2002	A>V		No	ClinGen ExAC TOPMed gnomAD
rs748278928 CA7600495	2004	T>M		No	ClinGen ExAC gnomAD
CA392709409 rs1567624706	2006	N>S		No	ClinGen Ensembl
rs749065850 CA392709441	2008	E>G		No	ClinGen ExAC TOPMed gnomAD
rs749065850 CA7600498	2008	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1184318703 CA392709542	2014	A>E		No	ClinGen TOPMed gnomAD
rs1437262347 CA392709533	2014	A>T		No	ClinGen gnomAD
CA7600502 rs147862885	2016	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600540 rs746904073	2018	E>D		No	ClinGen ExAC gnomAD
rs1427848013 CA392709810	2020	I>V		No	ClinGen gnomAD
CA392709817 rs1479149562	2021	L>V		No	ClinGen gnomAD
rs141116043 CA7600541	2023	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA271993073 rs867462773	2024	A>T		No	ClinGen Ensembl
rs747736381 CA392709850	2026	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1055511288 CA271993075	2026	A>T		No	ClinGen Ensembl
CA7600543 rs747736381	2026	A>V		No	ClinGen ExAC TOPMed gnomAD
CA392709871 rs1405382209	2029	E>D		No	ClinGen gnomAD
CA7600545 rs202071126	2030	D>H		No	ClinGen ExAC TOPMed gnomAD
rs775859880 CA7600548	2034	L>V		No	ClinGen ExAC TOPMed gnomAD
CA392709906 rs1213874076	2035	V>E		No	ClinGen gnomAD
rs374521039 CA7600549	2035	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146939622 CA7600551	2036	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600552 rs757423554	2039	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7600554 rs750593258	2041	T>A		No	ClinGen ExAC gnomAD
rs373215054 CA7600555	2042	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779947281 CA7600556	2044	K>R		No	ClinGen ExAC TOPMed gnomAD
rs746854932 CA7600557	2045	L>Q		No	ClinGen ExAC gnomAD
rs1271115780 CA392709968	2046	A>S		No	ClinGen TOPMed gnomAD
rs1253458207 CA392709976	2047	Q>R		No	ClinGen TOPMed
CA7600558 rs754938715	2048	A>T		No	ClinGen ExAC gnomAD
rs137970385 CA7600559	2048	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs777150163 CA7600562	2050	Q>*		No	ClinGen ExAC gnomAD
rs1233334011 CA392710013	2051	S>A		No	ClinGen TOPMed
CA392710019 rs984494050	2051	S>C		No	ClinGen gnomAD
rs984494050 CA271993150	2051	S>Y		No	ClinGen gnomAD
CA392710041 rs1356851870	2053	A>V		No	ClinGen TOPMed
rs1596030584 CA392710075	2057	T>P		No	ClinGen Ensembl
rs1421266320 CA392710088	2058	Q>E		No	ClinGen gnomAD
rs143323545 CA7600567	2059	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205796474 CA392710115	2060	A>G		No	ClinGen gnomAD
CA271993182 rs762232623	2060	A>S		No	ClinGen ExAC TOPMed gnomAD
rs762232623 CA7600569	2060	A>T		No	ClinGen ExAC TOPMed gnomAD
rs554704005 CA271993186	2062	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554704005 CA7600570	2062	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392710149 rs1384256521	2064	K>E		No	ClinGen gnomAD
rs1476204144 CA392710174	2066	G>R		No	ClinGen TOPMed
CA392710179 rs1237117751	2067	A>P		No	ClinGen gnomAD
rs1444851671 CA392710188	2068	A>G		No	ClinGen gnomAD
rs766751807 CA7600573	2069	S>R		No	ClinGen ExAC gnomAD
CA392710197 rs1383121792	2070	L>M		No	ClinGen gnomAD
CA7600574 rs751399253	2070	L>P		No	ClinGen ExAC gnomAD
CA271993206 rs752610440	2073	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7600576 rs780860133	2073	D>N		No	ClinGen ExAC TOPMed gnomAD
CA392710234 rs1383690746	2074	D>A		No	ClinGen TOPMed gnomAD
CA392710240 rs1454774848	2074	D>E		No	ClinGen gnomAD
CA7600578 rs756032465	2074	D>N		No	ClinGen ExAC TOPMed gnomAD
CA271993215 rs945557029	2075	P>S		No	ClinGen TOPMed gnomAD
CA392710250 rs1215545307	2076	E>K		No	ClinGen gnomAD
rs748798371 CA7600580	2077	T>A		No	ClinGen ExAC gnomAD
rs757218429 CA7600618	2080	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1180497910 CA392710906	2081	L>W		No	ClinGen gnomAD
CA7600619 rs764680246	2083	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1410456933 CA392710926	2084	A>V		No	ClinGen TOPMed
rs375305204 CA7600621	2085	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600620 rs142197635	2085	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392710935 rs1596042121	2086	K>E		No	ClinGen Ensembl
rs1057460564 CA392710943	2087	D>H		No	ClinGen gnomAD
rs1057460564 CA271994980	2087	D>Y		No	ClinGen gnomAD
rs1196742798 CA392710956	2089	A>S		No	ClinGen gnomAD
CA7600622 rs577562598	2090	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1567634629 CA392710963	2090	K>R		No	ClinGen Ensembl
rs1596042183 CA392710970	2091	A>S		No	ClinGen Ensembl
rs748536008 CA7600623	2091	A>V		No	ClinGen ExAC gnomAD
CA271995017 rs917785843	2093	S>A		No	ClinGen Ensembl
CA392710989 rs1386043834	2094	D>G		No	ClinGen TOPMed
CA392710986 rs1242891335	2094	D>H		No	ClinGen TOPMed gnomAD
rs1419413182 CA392710993	2095	L>F		No	ClinGen TOPMed gnomAD
CA392710995 rs1304148689	2095	L>H		No	ClinGen gnomAD
CA392710994 rs1419413182	2095	L>V		No	ClinGen TOPMed gnomAD
rs778290216 CA7600625	2096	I>F		No	ClinGen ExAC gnomAD
rs1387844774 CA392711029	2100	K>N		No	ClinGen gnomAD
rs771585445 CA7600627	2100	K>R		No	ClinGen ExAC gnomAD
CA271995036 rs962528590	2103	A>S		No	ClinGen TOPMed gnomAD
rs973840397 CA271995038	2104	S>G		No	ClinGen TOPMed
CA7600628 rs774546642	2104	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1442324162 CA392711053	2104	S>R		No	ClinGen gnomAD
rs1351057972 CA392711068	2107	V>M		No	ClinGen gnomAD
rs369969413 CA7600630	2108	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600632 rs543868821	2109	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA271995050 rs934442977	2110	P>A		No	ClinGen TOPMed
rs1266617230 CA392711093	2111	S>T		No	ClinGen gnomAD
rs763728729 CA7600633	2112	M>V		No	ClinGen ExAC TOPMed gnomAD
CA392711117 rs1184086549	2114	Q>E		No	ClinGen TOPMed gnomAD
rs1184086549 CA392711115	2114	Q>K		No	ClinGen TOPMed gnomAD
CA392711143 rs1439309284	2118	A>S		No	ClinGen gnomAD
rs1409098489 CA392711160	2120	K>R		No	ClinGen TOPMed
rs765769530 CA7600659	2121	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765769530 CA392711434	2121	V>L		No	ClinGen ExAC TOPMed gnomAD
CA392711437 rs765769530	2121	V>M		No	ClinGen ExAC TOPMed gnomAD
rs751100031 CA7600660	2124	T>I		No	ClinGen ExAC gnomAD
rs751100031 CA392711472	2124	T>N		No	ClinGen ExAC gnomAD
rs751562253 CA271995183	2125	N>S		No	ClinGen TOPMed
CA7600661 rs759086852	2127	T>P		No	ClinGen ExAC
rs1221395269 CA392711514	2128	S>L		No	ClinGen TOPMed
CA392711523 rs1317326271	2130	L>F		No	ClinGen gnomAD
CA392711531 rs1596043461	2131	K>R		No	ClinGen Ensembl
rs1204423566 CA392711536	2132	T>A		No	ClinGen gnomAD
rs1204423566 CA392711537	2132	T>S		No	ClinGen gnomAD
CA7600665 rs779433875	2133	V>I		No	ClinGen ExAC gnomAD
rs1482408174 CA392711554	2135	A>T		No	ClinGen TOPMed gnomAD
CA392711564 rs1343706440	2136	V>A		No	ClinGen TOPMed
CA392711561 rs1245819165	2136	V>L		No	ClinGen gnomAD
rs35997243 CA392711566	2137	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7600666 rs35997243	2137	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs537251935 CA7600667	2138	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA392711595 rs1430706447	2141	T>A		No	ClinGen gnomAD
CA7600668 rs779977190	2141	T>I		No	ClinGen ExAC TOPMed gnomAD
CA392711598 rs779977190	2141	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7600670 rs768862769	2142	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7600669 rs747154764	2142	R>W		No	ClinGen ExAC gnomAD
CA392711607 rs1420666302	2143	G>V		No	ClinGen TOPMed
VAR_055315 CA271995242 rs11633796	2144	T>I		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA7600671 rs11633796	2144	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600672 rs748387093	2146	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7600675 rs762747221	2151	I>V		No	ClinGen ExAC gnomAD
rs767425032 CA7600677	2153	C>S		No	ClinGen ExAC TOPMed gnomAD
rs767425032 CA392711667	2153	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs767264114 CA7600679	2154	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7600681 rs760407152	2156	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA392711702 rs1429844657	2158	L>F		No	ClinGen gnomAD
rs534607989 CA7600683	2159	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534607989 CA392711710	2159	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7600711 rs767539628	2160	V>E		No	ClinGen ExAC gnomAD
CA392711990 rs752819629	2161	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1434122518 CA392712001	2163	S>A		No	ClinGen Ensembl
CA7600713 rs139180466	2163	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392712006 rs1567645435	2164	K>E		No	ClinGen Ensembl
rs778122084 CA7600714	2165	D>E		No	ClinGen ExAC TOPMed gnomAD
CA392712016 rs1457419786	2165	D>G		No	ClinGen gnomAD
rs201426004 CA7600715	2166	V>I		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA392712020 rs201426004	2166	V>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA392712087 rs1197988295	2176	S>P		No	ClinGen gnomAD
rs772157747 CA7600719	2177	I>V		No	ClinGen ExAC gnomAD
rs746585245 CA7600721	2178	R>S		No	ClinGen ExAC gnomAD
rs768183151 CA392712111	2179	M>I		No	ClinGen ExAC gnomAD
rs768183151 CA7600722	2179	M>I		No	ClinGen ExAC gnomAD
CA7600723 rs776291652	2180	T>M		No	ClinGen ExAC gnomAD
rs372620372 CA7600725	2182	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392712137 rs1596062209	2184	T>P		No	ClinGen Ensembl
rs774724923 CA7600726	2185	M>T		No	ClinGen ExAC gnomAD
CA7600727 rs760017906	2189	K>T		No	ClinGen ExAC TOPMed gnomAD
rs147845841 CA7600730	2191	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147845841 CA7600731	2191	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA392712191 rs1450565876	2192	A>V		No	ClinGen gnomAD
rs1282779220 CA392712209	2195	N>I		No	ClinGen TOPMed gnomAD
rs1282779220 CA392712208	2195	N>S		No	ClinGen TOPMed gnomAD
CA7600732 rs754023148	2197	C>R		No	ClinGen ExAC gnomAD
CA392712220 rs1215638302	2197	C>Y		No	ClinGen gnomAD
rs1280703772 CA392712230	2198	R>S		No	ClinGen gnomAD
CA7600733 rs757449736	2201	D>N		No	ClinGen ExAC gnomAD
rs778720944 CA7600734	2202	V>M		No	ClinGen ExAC gnomAD
CA7600735 rs750291271	2204	A>P		No	ClinGen ExAC gnomAD
CA7600736 rs139795410	2204	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA271997842 rs758856919	2208	L>R		No	ClinGen TOPMed gnomAD
CA392712320 rs1567646051	2209	S>G		No	ClinGen Ensembl
CA7600738 rs144998736	2210	R>Q		No	ClinGen ESP ExAC gnomAD
CA392712333 rs1425725432	2210	R>W		No	ClinGen gnomAD
rs150935340 CA7600743	2213	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150935340 CA7600742	2213	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7600744 rs759956625	2218	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7600746 rs775915160	2219	A>T		No	ClinGen ExAC gnomAD
rs1277012089 CA392712463	2220	C>F		No	ClinGen gnomAD
rs769888870 CA272000244	2224	S>C		No	ClinGen Ensembl
rs769888870 CA272000246	2224	S>F		No	ClinGen Ensembl
rs1290538763 CA392712868	2226	H>R		No	ClinGen gnomAD
CA392712857 rs1215783072	2226	H>Y		No	ClinGen gnomAD
rs145263280 CA392712877	2227	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145263280 CA272000269	2227	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145263280 CA7600765	2227	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1180789702 CA392712893	2228	D>G		No	ClinGen TOPMed gnomAD
rs765420945 CA7600768	2228	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1164299539 CA392712942	2232	E>K		No	ClinGen TOPMed gnomAD
CA392712965 rs1596077660	2233	V>G		No	ClinGen Ensembl
CA392712957 rs1393517271	2233	V>M		No	ClinGen gnomAD
CA272000283 rs868716216	2234	R>K		No	ClinGen Ensembl
rs939365004 CA272000284	2235	T>N		No	ClinGen gnomAD
rs1250370459 CA392712999	2236	R>T		No	ClinGen TOPMed
rs754915891 CA7600773	2239	R>C		No	ClinGen ExAC TOPMed gnomAD
rs75413920 CA7600774	2239	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1309937848 CA392713044	2240	F>S		No	ClinGen TOPMed
rs1374322442 CA392713053	2241	G>R		No	ClinGen gnomAD
rs1350997797 CA392713064	2242	T>A		No	ClinGen TOPMed
rs752234300 CA7600775	2242	T>M		No	ClinGen ExAC gnomAD
CA392713071 rs1358363636	2243	E>Q		No	ClinGen gnomAD
rs867332167 CA272000315	2246	L>F		No	ClinGen Ensembl
rs1395546217 CA392713100	2247	G>D		No	ClinGen TOPMed
rs376729549 CA7600779	2248	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600780 rs780374642	2248	Y>S		No	ClinGen ExAC gnomAD
CA392713121 rs1031242138	2250	D>E		No	ClinGen TOPMed gnomAD
rs769194330 CA7600782	2250	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs748695217 CA7600784	2252	L>P		No	ClinGen ExAC gnomAD
rs769957237 CA7600785	2253	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA272000364 rs1010779051	2254	H>N		No	ClinGen TOPMed
CA7600787 rs369403198	2255	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600788 rs766751862	2257	V>M		No	ClinGen ExAC gnomAD
rs1258011102 CA392713692	2258	I>V		No	ClinGen TOPMed gnomAD
rs771721584 CA392713721	2262	P>A		No	ClinGen ExAC gnomAD
rs771721584 CA7600808	2262	P>S		No	ClinGen ExAC gnomAD
rs1192175386 CA392713743	2265	E>D		No	ClinGen gnomAD
CA7600811 rs764058761	2266	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7600810 rs3816988 VAR_014433	2266	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA272007156 rs3816988	2266	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1596115024 CA392713760	2268	Q>E		No	ClinGen Ensembl
rs1464301945 CA392713772	2269	Q>H		No	ClinGen gnomAD
CA392713771 rs1379007433	2269	Q>L		No	ClinGen gnomAD
CA392713780 rs1361001677	2271	A>P		No	ClinGen gnomAD
CA7600815 rs368081185	2272	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600814 rs368081185	2272	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567674387 CA392713800	2274	S>C		No	ClinGen Ensembl
rs758094458 CA7600816	2275	K>T		No	ClinGen ExAC gnomAD
rs781390797 CA7600818	2276	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7600817 rs781390797	2276	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778486418 CA7600820	2278	A>T		No	ClinGen ExAC gnomAD
rs138463845 CA7600823	2279	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7600822 RCV000960176 rs138463845	2279	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1173453402 CA392713826	2279	G>V		No	ClinGen TOPMed
CA392713829 rs143218219	2280	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7600825 rs143218219 RCV000924344	2280	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7600827 rs760529140	2283	E>Q		No	ClinGen ExAC gnomAD
CA392713853 rs1268911536	2284	L>F		No	ClinGen gnomAD
rs1380660684 CA392713863	2285	I>M		No	ClinGen gnomAD
CA7600828 rs768566732	2285	I>V		No	ClinGen ExAC gnomAD
CA392713865 rs1421316026	2286	Q>E		No	ClinGen gnomAD
CA7600829 rs776484571	2286	Q>R		No	ClinGen ExAC gnomAD
rs761771648 CA7600830	2287	A>V		No	ClinGen ExAC TOPMed gnomAD
rs200020059 CA7600832	2288	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201569811 CA7600834	2289	E>K		No	ClinGen ExAC gnomAD
rs753102133 CA7600835	2291	M>R		No	ClinGen ExAC gnomAD
CA392713898 rs753102133	2291	M>T		No	ClinGen ExAC gnomAD
CA7600836 rs756485370	2292	K>I		No	ClinGen ExAC gnomAD
rs759290667 CA272008017	2295	E>K		No	ClinGen ExAC TOPMed gnomAD
rs759290667 CA7600855	2295	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7600856 rs200187638	2297	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs754301783 CA7600857	2301	D>A		No	ClinGen ExAC TOPMed gnomAD
rs757672834 CA7600858	2303	T>A		No	ClinGen ExAC TOPMed gnomAD
CA392714002 rs1474888351	2305	I>T		No	ClinGen gnomAD
rs1299525328 CA392713999	2305	I>V		No	ClinGen TOPMed
CA7600859 rs765838250	2306	A>S		No	ClinGen ExAC gnomAD
CA392714019 rs1222963544	2308	T>A		No	ClinGen TOPMed
rs759758909 CA272008064	2308	T>I		No	ClinGen Ensembl
CA7600861 rs758446531	2314	A>V		No	ClinGen ExAC gnomAD
rs1301538264 CA392714069	2316	S>Y		No	ClinGen TOPMed gnomAD
rs981630182 CA272008101	2318	E>K		No	ClinGen TOPMed
CA7600863 rs747186238	2320	A>T		No	ClinGen ExAC gnomAD
rs989031997 CA272008118	2325	E>Q		No	ClinGen Ensembl
rs1303762445 CA392714133	2326	Q>K		No	ClinGen TOPMed
CA7600866 rs748045275	2329	P>L		No	ClinGen ExAC gnomAD
CA392714160 rs1469615425	2330	R>G		No	ClinGen gnomAD
CA392714161 rs1211989346	2330	R>K		No	ClinGen gnomAD
CA7600867 rs202139120	2332	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA271971341 rs966541641	2335	Q>K		No	ClinGen gnomAD
rs377723522 CA7600917	2336	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7600919 rs771295781	2338	E>Q		No	ClinGen ExAC gnomAD
CA392703931 rs1596188738	2339	T>P		No	ClinGen Ensembl
rs767589528 CA7600922	2341	D>A		No	ClinGen ExAC gnomAD
rs752773356 CA7600923	2341	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7600921 rs760063033	2341	D>N		No	ClinGen ExAC TOPMed gnomAD
CA392704014 rs1256171564	2345	Q>H		No	ClinGen gnomAD
rs945859433 CA271971387	2347	L>F		No	ClinGen Ensembl
CA271971389 rs1043026956	2349	A>D		No	ClinGen Ensembl
CA7600925 rs561056783	2352	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7600926 rs753674852	2353	I>L		No	ClinGen ExAC gnomAD
rs757061448 CA7600927	2353	I>T		No	ClinGen ExAC gnomAD
rs753674852 CA392704100	2353	I>V		No	ClinGen ExAC gnomAD
rs765129117 CA7600928	2355	A>P		No	ClinGen ExAC gnomAD
CA7600929 rs750346347	2358	S>G		No	ClinGen ExAC TOPMed gnomAD
CA271971479 rs62004656	2359	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs62004656 CA7600931	2359	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392704195 rs1383998752	2359	A>V		No	ClinGen gnomAD
rs1326062475 CA392704223	2362	K>Q		No	ClinGen gnomAD
rs746566406 CA7600932	2362	K>R		No	ClinGen ExAC gnomAD
rs139325348 CA7600933	2363	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210739053 CA392704258	2364	A>T		No	ClinGen TOPMed gnomAD
rs373840881 CA392704305	2367	A>G		No	ClinGen ESP ExAC gnomAD
rs373840881 CA7600937	2367	A>V		No	ClinGen ESP ExAC gnomAD
CA7600940 rs781445645	2369	R>S		No	ClinGen ExAC gnomAD
rs1289102639 CA392704353	2370	E>Q		No	ClinGen TOPMed
rs1452375635 CA392704384	2371	L>P		No	ClinGen gnomAD
rs1379701657 CA392704386	2372	V>M		No	ClinGen TOPMed gnomAD
rs368584189 CA7600942	2373	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392704434 rs1287188554	2375	G>*		No	ClinGen gnomAD
rs1384402548 CA392704453	2376	K>T		No	ClinGen gnomAD
rs1448570113 CA392705558	2379	S>A		No	ClinGen TOPMed
CA392705557 rs1448570113	2379	S>P		No	ClinGen TOPMed
CA392705566 rs1596201687	2380	I>T		No	ClinGen Ensembl
rs759536698 CA7600968	2381	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1380512203 CA392705579	2382	A>V		No	ClinGen gnomAD
CA7600969 rs766987642	2383	N>D		No	ClinGen ExAC gnomAD
rs752249129 CA7600970	2383	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1420229913 CA392705597	2385	A>V		No	ClinGen TOPMed
rs531624339 CA7600973	2387	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758625400 CA7600975	2388	G>R		No	ClinGen ExAC TOPMed gnomAD
rs201024580 CA392705624	2389	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201024580 CA392705625	2389	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392705641 rs1202203084	2392	Q>K		No	ClinGen gnomAD
rs747426828 CA7600977	2392	Q>P		No	ClinGen ExAC gnomAD
CA392705651 rs1274658687	2393	G>E		No	ClinGen TOPMed
rs1230052290 CA392705663	2395	I>T		No	ClinGen TOPMed
CA7600980 rs144866965	2397	A>T		No	ClinGen ESP ExAC gnomAD
CA271973813 rs753017530	2399	R>Q		No	ClinGen TOPMed gnomAD
CA7600996 rs752027860	2399	R>W		No	ClinGen ExAC TOPMed gnomAD
CA392705704 rs1455880366	2400	M>I		No	ClinGen gnomAD
rs1172248783 CA392705711	2401	V>A		No	ClinGen gnomAD
rs1375391273 CA392705714	2402	A>T		No	ClinGen gnomAD
CA7600997 rs755528338	2402	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1567714686 CA392705723	2403	A>V		No	ClinGen Ensembl
rs769951308 CA7601000	2404	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1596202843 CA392705731	2405	T>P		No	ClinGen Ensembl
rs1371370481 CA392705747	2407	S>T		No	ClinGen gnomAD
rs1294203012 CA392705769	2410	E>G		No	ClinGen TOPMed
CA392705777 rs1017374120	2411	A>G		No	ClinGen TOPMed gnomAD
rs1017374120 CA271973847	2411	A>V		No	ClinGen TOPMed gnomAD
CA392705779 rs1267790147	2412	A>D		No	ClinGen gnomAD
CA271973866 rs866028218	2412	A>S		No	ClinGen TOPMed
rs866028218 CA271973863	2412	A>T		No	ClinGen TOPMed
rs1224309143 CA392705785	2413	N>I		No	ClinGen gnomAD
CA392705788 rs1286406092	2413	N>K		No	ClinGen gnomAD
CA392705786 rs1224309143	2413	N>S		No	ClinGen gnomAD
CA7601004 rs774015869	2416	V>I		No	ClinGen ExAC TOPMed gnomAD
CA392705802 rs774015869	2416	V>L		No	ClinGen ExAC TOPMed gnomAD
rs140723056 CA7601005	2417	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868491875 CA271973876	2417	Q>R		No	ClinGen Ensembl
rs1470063308 CA392705820	2419	H>D		No	ClinGen gnomAD
rs775342858 CA7601007	2420	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392705838 rs1160819386	2421	S>N		No	ClinGen gnomAD
CA7601011 rs776254962	2422	E>D		No	ClinGen ExAC TOPMed gnomAD
rs763546449 CA7601009	2422	E>K		No	ClinGen ExAC TOPMed gnomAD
rs764307373 CA271973896	2423	E>K		No	ClinGen TOPMed gnomAD
CA392705847 rs764307373	2423	E>Q		No	ClinGen TOPMed gnomAD
rs1388666665 CA392705858	2424	K>R		No	ClinGen TOPMed
rs764997772 CA7601012	2425	L>F		No	ClinGen ExAC gnomAD
rs768022645 CA7601015	2429	A>T		No	ClinGen ExAC gnomAD
rs777681033 CA7601018	2431	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs777681033 CA7601019	2431	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs751647232 CA7601021	2433	A>T		No	ClinGen ExAC TOPMed gnomAD
rs371648345 CA7601023	2434	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA392705928 rs1184511820	2436	T>A		No	ClinGen gnomAD
CA7601024 rs372549302	2436	T>M		No	ClinGen ESP ExAC gnomAD
rs1157765351 CA392705932	2437	A>T		No	ClinGen gnomAD
rs1417997768 CA392705937	2437	A>V		No	ClinGen gnomAD
rs1264675848 CA392705963	2442	A>S		No	ClinGen TOPMed
CA7601029 rs78592652	2445	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7601031 rs762714908	2448	D>N		No	ClinGen ExAC gnomAD
rs1206653933 CA392706011	2449	Q>E		No	ClinGen TOPMed
CA392706021 rs1357507590	2450	D>G		No	ClinGen gnomAD
rs767969576 CA7601032	2450	D>H		No	ClinGen ExAC TOPMed gnomAD
rs767969576 CA392706019	2450	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA7601033 rs753148913	2453	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392706049 rs1300682451	2454	M>I		No	ClinGen TOPMed
CA7601035 rs764723854	2454	M>T		No	ClinGen ExAC gnomAD
CA271973976 rs981322612	2454	M>V		No	ClinGen TOPMed
rs1197907744 CA392706053	2455	R>M		No	ClinGen gnomAD
rs757298736 CA7601037	2456	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750327152 CA7601036	2456	R>W		No	ClinGen ExAC gnomAD
rs765732583 CA392706861	2459	A>E		No	ClinGen ExAC TOPMed gnomAD
rs765732583 CA7601073	2459	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1169424815 CA392706881	2461	G>R		No	ClinGen TOPMed
CA7601076 rs528804503	2463	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA392706927 rs528804503	2463	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7601077 rs751731528	2464	V>M		No	ClinGen ExAC gnomAD
rs1308379869 CA392706980	2466	R>K		No	ClinGen gnomAD
CA7601078 rs755200024	2467	A>G		No	ClinGen ExAC gnomAD
CA271975676 rs773372040	2468	S>L		No	ClinGen TOPMed
rs781005743 CA7601079	2470	N>S		No	ClinGen ExAC gnomAD
CA7601080 rs140301741	2471	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs565347411 CA7601083	2473	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565347411 CA7601082	2473	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145762497 CA7601084	2473	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145762497 CA7601085	2473	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1487400605 CA392707201	2476	Q>R		No	ClinGen gnomAD
rs745512812 CA7601087	2479	A>S		No	ClinGen ExAC gnomAD
CA271975714 rs1040372878	2480	F>V		No	ClinGen Ensembl
rs901938788 CA271975716	2481	G>V		No	ClinGen Ensembl
rs1323591225 CA392707359	2483	A>V		No	ClinGen TOPMed
rs1211794307 CA392707373	2484	D>H		No	ClinGen gnomAD
rs1411383443 CA392707382	2484	D>V		No	ClinGen gnomAD
CA392707399 rs1462144781	2485	D>N		No	ClinGen gnomAD
rs1457727759 CA392707444	2486	D>G		No	ClinGen gnomAD
CA392707430 rs1392691493	2486	D>N		No	ClinGen gnomAD
CA7601092 rs150270416	2487	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7601094 rs766423007	2489	V>I		No	ClinGen ExAC gnomAD
CA392707524 rs1448529940	2491	K>E		No	ClinGen TOPMed
rs1006674718 CA271975735	2496	G>R		No	ClinGen TOPMed
rs752974353 CA7601098	2497	G>D		No	ClinGen ExAC TOPMed gnomAD
CA392707747 rs1436490137	2500	Q>R		No	ClinGen TOPMed
CA392708587 rs779217995	2502	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1243369987 CA392708582	2502	I>V		No	ClinGen TOPMed
rs199823044 CA7601140	2503	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199823044 CA7601139	2503	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760952896 CA7601143	2504	A>P		No	ClinGen ExAC TOPMed gnomAD
rs760952896 CA7601142	2504	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392708594 rs1276527370	2504	A>V		No	ClinGen gnomAD
CA7601145 rs761644652	2505	Q>R		No	ClinGen ExAC gnomAD
rs1244070823 CA392708603	2506	E>K		No	ClinGen gnomAD
CA271976991 rs34464964	2507	E>D		No	ClinGen Ensembl
CA7601146 rs765087405	2507	E>V		No	ClinGen ExAC gnomAD
rs1425009915 CA392708622	2508	M>T		No	ClinGen TOPMed
rs117761903 CA7601148	2512	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1367272807 CA392708647	2512	E>K		No	ClinGen TOPMed
CA392708655 rs1408786329	2513	R>*		No	ClinGen TOPMed
CA7601150 rs768593562	2513	R>Q		No	ClinGen ExAC gnomAD
rs1016144743 CA271977032	2516	E>D		No	ClinGen gnomAD
CA7601152 rs780762951	2516	E>Q		No	ClinGen ExAC gnomAD
rs752347485 CA7601153	2517	E>A		No	ClinGen ExAC gnomAD
rs1319616187 CA392708720	2523	A>S		No	ClinGen gnomAD
CA392708724 rs1371485474	2524	Q>*		No	ClinGen gnomAD
CA392708739 rs1442958632	2526	R>C		No	ClinGen gnomAD
rs779359916 CA7601155	2526	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1286513040 CA392708772	2530	Y>C		No	ClinGen gnomAD
CA392708804 rs1567729048	2533	L>F		No	ClinGen Ensembl
CA271977070 rs1036917080	2535	T>A		No	ClinGen TOPMed
CA271977080 rs747143490	2536	E>D		No	ClinGen ExAC TOPMed gnomAD
rs921864392 CA271977077	2536	E>K		No	ClinGen gnomAD
rs1284529768 CA392708858	2538	R>K		No	ClinGen TOPMed
CA271977091 rs954580752	2539	E>K		No	ClinGen TOPMed
CA392708871 rs954580752	2539	E>Q		No	ClinGen TOPMed
CA7601160 rs768872594	2540	D>N		No	ClinGen ExAC gnomAD
rs138975281 CA7601161	2542	G>D		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q9Y4G6

7 regional properties for Q9Y4G6

Type	Name	Position	InterPro Accession
domain	FERM domain	88 - 406	IPR000299
domain	Talin, central	494 - 655	IPR015224
conserved_site	FERM conserved site	286 - 315	IPR019747
domain	FERM central domain	204 - 316	IPR019748
domain	Band 4.1 domain	84 - 316	IPR019749
domain	Talin, N-terminal F0 domain	4 - 85	IPR032425
domain	Talin-1/2, rod-segment	1656 - 1827	IPR037438

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell junction, focal adhesion Synapse Cell membrane; Peripheral membrane protein; Cytoplasmic side Cytoplasm, cytoskeleton	Focal adhesion plaques and synapses (PubMed:12422219)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

5 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
integrin binding	Binding to an integrin.
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.

3 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.
cell-cell junction assembly	The aggregation, arrangement and bonding together of a set of components to form a junction between cells.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32LP0	FERMT3	Fermitin family homolog 3	Bos taurus (Bovine)	SS
P54939	TLN1	Talin-1	Gallus gallus (Chicken)	SS
Q9VZI3	Fit1	Unc-112-related protein	Drosophila melanogaster (Fruit fly)	SS
Q9Y490	TLN1	Talin-1	Homo sapiens (Human)	EV
Q96AC1	FERMT2	Fermitin family homolog 2	Homo sapiens (Human)	SS
Q86UX7	FERMT3	Fermitin family homolog 3	Homo sapiens (Human)	EV
Q9BQL6	FERMT1	Fermitin family homolog 1	Homo sapiens (Human)	SS
P26039	Tln1	Talin-1	Mus musculus (Mouse)	EV
Q71LX4	Tln2	Talin-2	Mus musculus (Mouse)	SS
Q8K1B8	Fermt3	Fermitin family homolog 3	Mus musculus (Mouse)	SS
P59113	Fermt1	Fermitin family homolog 1	Mus musculus (Mouse)	SS
Q8CIB5	Fermt2	Fermitin family homolog 2	Mus musculus (Mouse)	SS
Q18685	unc-112	Protein unc-112	Caenorhabditis elegans	SS
F1Q8X5	fermt2	Fermitin family homolog 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MVALSLKICV	RHCNVVKTMQ	FEPSTAVYDA	CRVIRERVPE	AQTGQASDYG	LFLSDEDPRK
70	80	90	100	110	120
GIWLEAGRTL	DYYMLRNGDI	LEYKKKQRPQ	KIRMLDGSVK	TVMVDDSKTV	GELLVTICSR
130	140	150	160	170	180
IGITNYEEYS	LIQETIEEKK	EEGTGTLKKD	RTLLRDERKM	EKLKAKLHTD	DDLNWLDHSR
190	200	210	220	230	240
TFREQGVDEN	ETLLLRRKFF	YSDQNVDSRD	PVQLNLLYVQ	ARDDILNGSH	PVSFEKACEF
250	260	270	280	290	300
GGFQAQIQFG	PHVEHKHKPG	FLDLKEFLPK	EYIKQRGAEK	RIFQEHKNCG	EMSEIEAKVK
310	320	330	340	350	360
YVKLARSLRT	YGVSFFLVKE	KMKGKNKLVP	RLLGITKDSV	MRVDEKTKEV	LQEWPLTTVK
370	380	390	400	410	420
RWAASPKSFT	LDFGEYQESY	YSVQTTEGEQ	ISQLIAGYID	IILKKKQSKD	RFGLEGDEES
430	440	450	460	470	480
TMLEESVSPK	KSTILQQQFN	RTGKAEHGSV	ALPAVMRSGS	SGPETFNVGS	MPSPQQQVMV
490	500	510	520	530	540
GQMHRGHMPP	LTSAQQALMG	TINTSMHAVQ	QAQDDLSELD	SLPPLGQDMA	SRVWVQNKVD
550	560	570	580	590	600
ESKHEIHSQV	DAITAGTASV	VNLTAGDPAD	TDYTAVGCAI	TTISSNLTEM	SKGVKLLAAL
610	620	630	640	650	660
MDDEVGSGED	LLRAARTLAG	AVSDLLKAVQ	PTSGEPRQTV	LTAAGSIGQA	SGDLLRQIGE
670	680	690	700	710	720
NETDERFQDV	LMSLAKAVAN	AAAMLVLKAK	NVAQVAEDTV	LQNRVIAAAT	QCALSTSQLV
730	740	750	760	770	780
ACAKVVSPTI	SSPVCQEQLI	EAGKLVDRSV	ENCVRACQAA	TTDSELLKQV	SAAASVVSQA
790	800	810	820	830	840
LHDLLQHVRQ	FASRGEPIGR	YDQATDTIMC	VTESIFSSMG	DAGEMVRQAR	VLAQATSDLV
850	860	870	880	890	900
NAMRSDAEAE	IDMENSKKLL	AAAKLLADST	ARMVEAAKGA	AANPENEDQQ	QRLREAAEGL
910	920	930	940	950	960
RVATNAAAQN	AIKKKIVNRL	EVAAKQAAAA	ATQTIAASQN	AAVSNKNPAA	QQQLVQSCKA
970	980	990	1000	1010	1020
VADHIPQLVQ	GVRGSQAQAE	DLSAQLALII	SSQNFLQPGS	KMVSSAKAAV	PTVSDQAAAM
1030	1040	1050	1060	1070	1080
QLSQCAKNLA	TSLAELRTAS	QKAHEACGPM	EIDSALNTVQ	TLKNELQDAK	MAAVESQLKP
1090	1100	1110	1120	1130	1140
LPGETLEKCA	QDLGSTSKAV	GSSMAQLLTC	AAQGNEHYTG	VAARETAQAL	KTLAQAARGV
1150	1160	1170	1180	1190	1200
AASTTDPAAA	HAMLDSARDV	MEGSAMLIQE	AKQALIAPGD	AERQQRLAQV	AKAVSHSLNN
1210	1220	1230	1240	1250	1260
CVNCLPGQKD	VDVALKSIGE	SSKKLLVDSL	PPSTKPFQEA	QSELNQAAAD	LNQSAGEVVH
1270	1280	1290	1300	1310	1320
ATRGQSGELA	AASGKFSDDF	DEFLDAGIEM	AGQAQTKEDQ	IQVIGNLKNI	SMASSKLLLA
1330	1340	1350	1360	1370	1380
AKSLSVDPGA	PNAKNLLAAA	ARAVTESINQ	LITLCTQQAP	GQKECDNALR	ELETVKGMLD
1390	1400	1410	1420	1430	1440
NPNEPVSDLS	YFDCIESVME	NSKVLGESMA	GISQNAKTGD	LPAFGECVGI	ASKALCGLTE
1450	1460	1470	1480	1490	1500
AAAQAAYLVG	ISDPNSQAGH	QGLVDPIQFA	RANQAIQMAC	QNLVDPGSSP	SQVLSAATIV
1510	1520	1530	1540	1550	1560
AKHTSALCNA	CRIASSKTAN	PVAKRHFVQS	AKEVANSTAN	LVKTIKALDG	DFSEDNRNKC
1570	1580	1590	1600	1610	1620
RIATAPLIEA	VENLTAFASN	PEFVSIPAQI	SSEGSQAQEP	ILVSAKTMLE	SSSYLIRTAR
1630	1640	1650	1660	1670	1680
SLAINPKDPP	TWSVLAGHSH	TVSDSIKSLI	TSIRDKAPGQ	RECDYSIDGI	NRCIRDIEQA
1690	1700	1710	1720	1730	1740
SLAAVSQSLA	TRDDISVEAL	QEQLTSVVQE	IGHLIDPIAT	AARGEAAQLG	HKVTQLASYF
1750	1760	1770	1780	1790	1800
EPLILAAVGV	ASKILDHQQQ	MTVLDQTKTL	AESALQMLYA	AKEGGGNPKA	QHTHDAITEA
1810	1820	1830	1840	1850	1860
AQLMKEAVDD	IMVTLNEAAS	EVGLVGGMVD	AIAEAMSKLD	EGTPPEPKGT	FVDYQTTVVK
1870	1880	1890	1900	1910	1920
YSKAIAVTAQ	EMMTKSVTNP	EELGGLASQM	TSDYGHLAFQ	GQMAAATAEP	EEIGFQIRTR
1930	1940	1950	1960	1970	1980
VQDLGHGCIF	LVQKAGALQV	CPTDSYTKRE	LIECARAVTE	KVSLVLSALQ	AGNKGTQACI
1990	2000	2010	2020	2030	2040
TAATAVSGII	ADLDTTIMFA	TAGTLNAENS	ETFADHRENI	LKTAKALVED	TKLLVSGAAS
2050	2060	2070	2080	2090	2100
TPDKLAQAAQ	SSAATITQLA	EVVKLGAASL	GSDDPETQVV	LINAIKDVAK	ALSDLISATK
2110	2120	2130	2140	2150	2160
GAASKPVDDP	SMYQLKGAAK	VMVTNVTSLL	KTVKAVEDEA	TRGTRALEAT	IECIKQELTV
2170	2180	2190	2200	2210	2220
FQSKDVPEKT	SSPEESIRMT	KGITMATAKA	VAAGNSCRQE	DVIATANLSR	KAVSDMLTAC
2230	2240	2250	2260	2270	2280
KQASFHPDVS	DEVRTRALRF	GTECTLGYLD	LLEHVLVILQ	KPTPEFKQQL	AAFSKRVAGA
2290	2300	2310	2320	2330	2340
VTELIQAAEA	MKGTEWVDPE	DPTVIAETEL	LGAAASIEAA	AKKLEQLKPR	AKPKQADETL
2350	2360	2370	2380	2390	2400
DFEEQILEAA	KSIAAATSAL	VKSASAAQRE	LVAQGKVGSI	PANAADDGQW	SQGLISAARM
2410	2420	2430	2440	2450	2460
VAAATSSLCE	AANASVQGHA	SEEKLISSAK	QVAASTAQLL	VACKVKADQD	SEAMRRLQAA
2470	2480	2490	2500	2510	2520
GNAVKRASDN	LVRAAQKAAF	GKADDDDVVV	KTKFVGGIAQ	IIAAQEEMLK	KERELEEARK
2530	2540
KLAQIRQQQY	KFLPTELRED	EG