Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.46377925T>A	CA346703677	EPAS1	c.1281T>A (p.Tyr427Ter) n.449T>A c.1320T>A (p.Tyr440Ter)	dbSNP
2	g.46377925T>C	CA46563779	EPAS1	c.1281T>C (p.Tyr427=) n.449T>C c.1320T>C (p.Tyr440=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377925T>G	CA346703678	EPAS1	c.1281T>G (p.Tyr427Ter) n.449T>G c.1320T>G (p.Tyr440Ter)	dbSNP
2	g.46377925T=	CA2495280909	EPAS1	c.1281T= (p.Tyr427=) n.449T= c.1320T= (p.Tyr440=)
2	g.46377926G>A	CA346703679	EPAS1	c.1282G>A (p.Gly428Ser) n.450G>A c.1321G>A (p.Gly441Ser)	gnomAD v4
2	g.46377926G>C	CA346703680	EPAS1	c.1282G>C (p.Gly428Arg) n.450G>C c.1321G>C (p.Gly441Arg)	gnomAD v4
2	g.46377926G>T	CA346703682	EPAS1	c.1282G>T (p.Gly428Cys) n.450G>T c.1321G>T (p.Gly441Cys)
2	g.46377927G>A	CA346703684	EPAS1	c.1283G>A (p.Gly428Asp) n.451G>A c.1322G>A (p.Gly441Asp)	gnomAD v4
2	g.46377927G>C	CA346703685	EPAS1	c.1283G>C (p.Gly428Ala) n.451G>C c.1322G>C (p.Gly441Ala)	dbSNP gnomAD v4
2	g.46377927G>T	CA346703686	EPAS1	c.1283G>T (p.Gly428Val) n.451G>T c.1322G>T (p.Gly441Val)	gnomAD v4
2	g.46377928C>A	CA425924561	EPAS1	c.1284C>A (p.Gly428=) n.452C>A c.1323C>A (p.Gly441=)	gnomAD v4
2	g.46377928C>G	CA425924562	EPAS1	c.1284C>G (p.Gly428=) n.452C>G c.1323C>G (p.Gly441=)
2	g.46377928C>T	CA425924565	EPAS1	c.1284C>T (p.Gly428=) n.452C>T c.1323C>T (p.Gly441=)	gnomAD v4
2	g.46377929A=	CA2495280910	EPAS1	c.1285A= (p.Lys429=) n.453A= c.1324A= (p.Lys442=)
2	g.46377929A>C	CA346703688	EPAS1	c.1285A>C (p.Lys429Gln) n.453A>C c.1324A>C (p.Lys442Gln)	dbSNP
2	g.46377929A>G	CA346703690	EPAS1	c.1285A>G (p.Lys429Glu) n.453A>G c.1324A>G (p.Lys442Glu)
2	g.46377929A>T	CA346703692	EPAS1	c.1285A>T (p.Lys429Ter) n.453A>T c.1324A>T (p.Lys442Ter)
2	g.46377930A>C	CA346703696	EPAS1	c.1286A>C (p.Lys429Thr) n.454A>C c.1325A>C (p.Lys442Thr)
2	g.46377930A>G	CA346703695	EPAS1	c.1286A>G (p.Lys429Arg) n.454A>G c.1325A>G (p.Lys442Arg)	gnomAD v4
2	g.46377930A>T	CA346703693	EPAS1	c.1286A>T (p.Lys429Met) n.454A>T c.1325A>T (p.Lys442Met)	dbSNP
2	g.46377931G>A	CA425924571	EPAS1	c.1287G>A (p.Lys429=) n.455G>A c.1326G>A (p.Lys442=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.46377931G>C	CA346703698	EPAS1	c.1287G>C (p.Lys429Asn) n.455G>C c.1326G>C (p.Lys442Asn)
2	g.46377931G=	CA2495280911	EPAS1	c.1287G= (p.Lys429=) n.455G= c.1326G= (p.Lys442=)
2	g.46377931G>T	CA346703700	EPAS1	c.1287G>T (p.Lys429Asn) n.455G>T c.1326G>T (p.Lys442Asn)
2	g.46377932G>A	CA346703701	EPAS1	c.1288G>A (p.Ala430Thr) n.456G>A c.1327G>A (p.Ala443Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.46377932G>C	CA346703703	EPAS1	c.1288G>C (p.Ala430Pro) n.456G>C c.1327G>C (p.Ala443Pro)
2	g.46377932G=	CA2495280912	EPAS1	c.1288G= (p.Ala430=) n.456G= c.1327G= (p.Ala443=)
2	g.46377932G>T	CA1644944	EPAS1	c.1288G>T (p.Ala430Ser) n.456G>T c.1327G>T (p.Ala443Ser)	ClinVar dbSNP ExAC gnomAD v4
2	g.46377933C>A	CA346703705	EPAS1	c.1289C>A (p.Ala430Asp) n.457C>A c.1328C>A (p.Ala443Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.46377933C=	CA2495280913	EPAS1	c.1289C= (p.Ala430=) n.457C= c.1328C= (p.Ala443=)
2	g.46377933C>G	CA346703706	EPAS1	c.1289C>G (p.Ala430Gly) n.457C>G c.1328C>G (p.Ala443Gly)
2	g.46377933C>T	CA346703708	EPAS1	c.1289C>T (p.Ala430Val) n.457C>T c.1328C>T (p.Ala443Val)	dbSNP
2	g.46377934C>A	CA425924584	EPAS1	c.1290C>A (p.Ala430=) n.458C>A c.1329C>A (p.Ala443=)
2	g.46377934C>G	CA425924587	EPAS1	c.1290C>G (p.Ala430=) n.458C>G c.1329C>G (p.Ala443=)
2	g.46377934C>T	CA425924589	EPAS1	c.1290C>T (p.Ala430=) n.458C>T c.1329C>T (p.Ala443=)	ClinVar gnomAD v4
2	g.46377935A=	CA2495280914	EPAS1	c.1291A= (p.Ile431=) n.459A= c.1330A= (p.Ile444=)
2	g.46377935A>C	CA346703710	EPAS1	c.1291A>C (p.Ile431Leu) n.459A>C c.1330A>C (p.Ile444Leu)
2	g.46377935A>G	CA346703712	EPAS1	c.1291A>G (p.Ile431Val) n.459A>G c.1330A>G (p.Ile444Val)	ClinVar
2	g.46377935A>T	CA46563787	EPAS1	c.1291A>T (p.Ile431Phe) n.459A>T c.1330A>T (p.Ile444Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.46377936T>A	CA346703714	EPAS1	c.1292T>A (p.Ile431Asn) n.460T>A c.1331T>A (p.Ile444Asn)
2	g.46377936T>C	CA346703715	EPAS1	c.1292T>C (p.Ile431Thr) n.460T>C c.1331T>C (p.Ile444Thr)	dbSNP
2	g.46377936T>G	CA346703716	EPAS1	c.1292T>G (p.Ile431Ser) n.460T>G c.1331T>G (p.Ile444Ser)
2	g.46377937C>A	CA425924599	EPAS1	c.1293C>A (p.Ile431=) n.461C>A c.1332C>A (p.Ile444=)	ClinVar gnomAD v4
2	g.46377937C>G	CA346703718	EPAS1	c.1293C>G (p.Ile431Met) n.461C>G c.1332C>G (p.Ile444Met)	gnomAD v4
2	g.46377937C>T	CA425924601	EPAS1	c.1293C>T (p.Ile431=) n.461C>T c.1332C>T (p.Ile444=)	ClinVar gnomAD v4
2	g.46377938C>A	CA346703720	EPAS1	c.1294C>A (p.Leu432Met) n.462C>A c.1333C>A (p.Leu445Met)	dbSNP gnomAD v4
2	g.46377938C>G	CA346703721	EPAS1	c.1294C>G (p.Leu432Val) n.462C>G c.1333C>G (p.Leu445Val)
2	g.46377938C>T	CA425924605	EPAS1	c.1294C>T (p.Leu432=) n.462C>T c.1333C>T (p.Leu445=)
2	g.46377939T>A	CA346703723	EPAS1	c.1295T>A (p.Leu432Gln) n.463T>A c.1334T>A (p.Leu445Gln)
2	g.46377939T>C	CA346703724	EPAS1	c.1295T>C (p.Leu432Pro) n.463T>C c.1334T>C (p.Leu445Pro)
2	g.46377939T>G	CA346703725	EPAS1	c.1295T>G (p.Leu432Arg) n.463T>G c.1334T>G (p.Leu445Arg)
2	g.46377940G>A	CA425924609	EPAS1	c.1296G>A (p.Leu432=) n.464G>A c.1335G>A (p.Leu445=)	ClinVar gnomAD v4
2	g.46377940G>C	CA425924611	EPAS1	c.1296G>C (p.Leu432=) n.464G>C c.1335G>C (p.Leu445=)
2	g.46377940G>T	CA425924613	EPAS1	c.1296G>T (p.Leu432=) n.464G>T c.1335G>T (p.Leu445=)	gnomAD v4
2	g.46377941C>A	CA346703727	EPAS1	c.1297C>A (p.Pro433Thr) n.465C>A c.1336C>A (p.Pro446Thr)	gnomAD v4
2	g.46377941C=	CA2495280915	EPAS1	c.1297C= (p.Pro433=) n.465C= c.1336C= (p.Pro446=)
2	g.46377941C>G	CA346703728	EPAS1	c.1297C>G (p.Pro433Ala) n.465C>G c.1336C>G (p.Pro446Ala)
2	g.46377941C>T	CA346703730	EPAS1	c.1297C>T (p.Pro433Ser) n.465C>T c.1336C>T (p.Pro446Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.46377945del	CA2658894045	EPAS1	c.1301del (p.Pro434ArgfsTer9) n.469del c.1340del (p.Pro447ArgfsTer9)	gnomAD v4
2	g.46377942C>A	CA346703731	EPAS1	c.1298C>A (p.Pro433His) n.466C>A c.1337C>A (p.Pro446His)	dbSNP
2	g.46377942C>G	CA346703732	EPAS1	c.1298C>G (p.Pro433Arg) n.466C>G c.1337C>G (p.Pro446Arg)
2	g.46377942C>T	CA346703733	EPAS1	c.1298C>T (p.Pro433Leu) n.466C>T c.1337C>T (p.Pro446Leu)	ClinVar gnomAD v4
2	g.46377943C>A	CA425924621	EPAS1	c.1299C>A (p.Pro433=) n.467C>A c.1338C>A (p.Pro446=)	gnomAD v4
2	g.46377943C=	CA2495280916	EPAS1	c.1299C= (p.Pro433=) n.467C= c.1338C= (p.Pro446=)
2	g.46377943C>G	CA425924623	EPAS1	c.1299C>G (p.Pro433=) n.467C>G c.1338C>G (p.Pro446=)	ClinVar
2	g.46377943C>T	CA1644945	EPAS1	c.1299C>T (p.Pro433=) n.467C>T c.1338C>T (p.Pro446=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.46377944C>A	CA346703735	EPAS1	c.1300C>A (p.Pro434Thr) n.468C>A c.1339C>A (p.Pro447Thr)	gnomAD v4
2	g.46377944C=	CA2495280917	EPAS1	c.1300C= (p.Pro434=) n.468C= c.1339C= (p.Pro447=)
2	g.46377944C>G	CA346703736	EPAS1	c.1300C>G (p.Pro434Ala) n.468C>G c.1339C>G (p.Pro447Ala)	gnomAD v4
2	g.46377944C>T	CA1644946	EPAS1	c.1300C>T (p.Pro434Ser) n.468C>T c.1339C>T (p.Pro447Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377945C>A	CA346703738	EPAS1	c.1301C>A (p.Pro434Gln) n.469C>A c.1340C>A (p.Pro447Gln)
2	g.46377945C=	CA2495280918	EPAS1	c.1301C= (p.Pro434=) n.469C= c.1340C= (p.Pro447=)
2	g.46377945C>G	CA346703741	EPAS1	c.1301C>G (p.Pro434Arg) n.469C>G c.1340C>G (p.Pro447Arg)	gnomAD v4
2	g.46377945C>T	CA1644947	EPAS1	c.1301C>T (p.Pro434Leu) n.469C>T c.1340C>T (p.Pro447Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377946G>A	CA1644948	EPAS1	c.1302G>A (p.Pro434=) n.470G>A c.1341G>A (p.Pro447=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377946G>C	CA425924633	EPAS1	c.1302G>C (p.Pro434=) n.470G>C c.1341G>C (p.Pro447=)	dbSNP
2	g.46377946G=	CA2495280919	EPAS1	c.1302G= (p.Pro434=) n.470G= c.1341G= (p.Pro447=)
2	g.46377946G>T	CA425924636	EPAS1	c.1302G>T (p.Pro434=) n.470G>T c.1341G>T (p.Pro447=)	gnomAD v4
2	g.46377947A=	CA2495280920	EPAS1	c.1303A= (p.Ser435=) n.471A= c.1342A= (p.Ser448=)
2	g.46377947A>C	CA346703743	EPAS1	c.1303A>C (p.Ser435Arg) n.471A>C c.1342A>C (p.Ser448Arg)	gnomAD v4
2	g.46377947A>G	CA346703744	EPAS1	c.1303A>G (p.Ser435Gly) n.471A>G c.1342A>G (p.Ser448Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.46377947A>T	CA346703745	EPAS1	c.1303A>T (p.Ser435Cys) n.471A>T c.1342A>T (p.Ser448Cys)	dbSNP
2	g.46377948G>A	CA346703747	EPAS1	c.1304G>A (p.Ser435Asn) n.472G>A c.1343G>A (p.Ser448Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.46377948G>C	CA346703748	EPAS1	c.1304G>C (p.Ser435Thr) n.472G>C c.1343G>C (p.Ser448Thr)
2	g.46377948G=	CA2495280921	EPAS1	c.1304G= (p.Ser435=) n.472G= c.1343G= (p.Ser448=)
2	g.46377948G>T	CA346703749	EPAS1	c.1304G>T (p.Ser435Ile) n.472G>T c.1343G>T (p.Ser448Ile)	gnomAD v4
2	g.46377949C>A	CA346703751	EPAS1	c.1305C>A (p.Ser435Arg) n.473C>A c.1344C>A (p.Ser448Arg)
2	g.46377949C>G	CA346703752	EPAS1	c.1305C>G (p.Ser435Arg) n.473C>G c.1344C>G (p.Ser448Arg)
2	g.46377949C>T	CA425924644	EPAS1	c.1305C>T (p.Ser435=) n.473C>T c.1344C>T (p.Ser448=)	dbSNP
2	g.46377950C>A	CA346703753	EPAS1	c.1306C>A (p.Gln436Lys) n.474C>A c.1345C>A (p.Gln449Lys)	ClinVar gnomAD v4
2	g.46377950C>G	CA346703754	EPAS1	c.1306C>G (p.Gln436Glu) n.474C>G c.1345C>G (p.Gln449Glu)
2	g.46377950C>T	CA346703756	EPAS1	c.1306C>T (p.Gln436Ter) n.474C>T c.1345C>T (p.Gln449Ter)
2	g.46377951A>C	CA346703759	EPAS1	c.1307A>C (p.Gln436Pro) n.475A>C c.1346A>C (p.Gln449Pro)	gnomAD v4
2	g.46377951A>G	CA346703757	EPAS1	c.1307A>G (p.Gln436Arg) n.475A>G c.1346A>G (p.Gln449Arg)	gnomAD v4
2	g.46377951A>T	CA346703758	EPAS1	c.1307A>T (p.Gln436Leu) n.475A>T c.1346A>T (p.Gln449Leu)
2	g.46377952G>A	CA425924652	EPAS1	c.1308G>A (p.Gln436=) n.476G>A c.1347G>A (p.Gln449=)	dbSNP gnomAD v4
2	g.46377952G>C	CA346703760	EPAS1	c.1308G>C (p.Gln436His) n.476G>C c.1347G>C (p.Gln449His)
2	g.46377952G>T	CA346703761	EPAS1	c.1308G>T (p.Gln436His) n.476G>T c.1347G>T (p.Gln449His)
2	g.46377953C>A	CA346703763	EPAS1	c.1309C>A (p.Pro437Thr) n.477C>A c.1348C>A (p.Pro450Thr)
2	g.46377953C>G	CA346703764	EPAS1	c.1309C>G (p.Pro437Ala) n.477C>G c.1348C>G (p.Pro450Ala)
2	g.46377953C>T	CA346703765	EPAS1	c.1309C>T (p.Pro437Ser) n.477C>T c.1348C>T (p.Pro450Ser)	dbSNP gnomAD v4 COSMIC
2	g.46377954C>A	CA346703766	EPAS1	c.1310C>A (p.Pro437Gln) n.478C>A c.1349C>A (p.Pro450Gln)
2	g.46377954C>G	CA346703768	EPAS1	c.1310C>G (p.Pro437Arg) n.478C>G c.1349C>G (p.Pro450Arg)
2	g.46377954C>T	CA346703769	EPAS1	c.1310C>T (p.Pro437Leu) n.478C>T c.1349C>T (p.Pro450Leu)
2	g.46377955A>C	CA425924663	EPAS1	c.1311A>C (p.Pro437=) n.479A>C c.1350A>C (p.Pro450=)
2	g.46377955A>G	CA425924665	EPAS1	c.1311A>G (p.Pro437=) n.479A>G c.1350A>G (p.Pro450=)	gnomAD v4
2	g.46377955A>T	CA425924667	EPAS1	c.1311A>T (p.Pro437=) n.479A>T c.1350A>T (p.Pro450=)
2	g.46377956T>A	CA346703771	EPAS1	c.1312T>A (p.Trp438Arg) n.480T>A c.1351T>A (p.Trp451Arg)	dbSNP
2	g.46377956T>C	CA46563829	EPAS1	c.1312T>C (p.Trp438Arg) n.480T>C c.1351T>C (p.Trp451Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.46377956T>G	CA346703773	EPAS1	c.1312T>G (p.Trp438Gly) n.480T>G c.1351T>G (p.Trp451Gly)	ClinVar dbSNP
2	g.46377956T=	CA2495280922	EPAS1	c.1312T= (p.Trp438=) n.480T= c.1351T= (p.Trp451=)
2	g.46377957G>A	CA346703777	EPAS1	c.1313G>A (p.Trp438Ter) n.481G>A c.1352G>A (p.Trp451Ter)
2	g.46377957G>C	CA1644949	EPAS1	c.1313G>C (p.Trp438Ser) n.481G>C c.1352G>C (p.Trp451Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.46377957G=	CA2495280923	EPAS1	c.1313G= (p.Trp438=) n.481G= c.1352G= (p.Trp451=)
2	g.46377957G>T	CA346703775	EPAS1	c.1313G>T (p.Trp438Leu) n.481G>T c.1352G>T (p.Trp451Leu)
2	g.46377958G>A	CA346703778	EPAS1	c.1314G>A (p.Trp438Ter) n.482G>A c.1353G>A (p.Trp451Ter)
2	g.46377958G>C	CA346703781	EPAS1	c.1314G>C (p.Trp438Cys) n.482G>C c.1353G>C (p.Trp451Cys)	ClinVar
2	g.46377958G>T	CA346703779	EPAS1	c.1314G>T (p.Trp438Cys) n.482G>T c.1353G>T (p.Trp451Cys)	gnomAD v4
2	g.46377959G>A	CA46563841	EPAS1	c.1315G>A (p.Ala439Thr) n.483G>A c.1354G>A (p.Ala452Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.46377959G>C	CA346703785	EPAS1	c.1315G>C (p.Ala439Pro) n.483G>C c.1354G>C (p.Ala452Pro)
2	g.46377959G=	CA2495280924	EPAS1	c.1315G= (p.Ala439=) n.483G= c.1354G= (p.Ala452=)
2	g.46377959G>T	CA346703784	EPAS1	c.1315G>T (p.Ala439Ser) n.483G>T c.1354G>T (p.Ala452Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.46377960C>A	CA346703787	EPAS1	c.1316C>A (p.Ala439Asp) n.484C>A c.1355C>A (p.Ala452Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377960C=	CA2495280925	EPAS1	c.1316C= (p.Ala439=) n.484C= c.1355C= (p.Ala452=)
2	g.46377960C>G	CA1644950	EPAS1	c.1316C>G (p.Ala439Gly) n.484C>G c.1355C>G (p.Ala452Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377960C>T	CA346703788	EPAS1	c.1316C>T (p.Ala439Val) n.484C>T c.1355C>T (p.Ala452Val)	dbSNP gnomAD v4
2	g.46377961C>A	CA425924685	EPAS1	c.1317C>A (p.Ala439=) n.485C>A c.1356C>A (p.Ala452=)	ClinVar
2	g.46377961C=	CA2495280926	EPAS1	c.1317C= (p.Ala439=) n.485C= c.1356C= (p.Ala452=)
2	g.46377961C>G	CA425924687	EPAS1	c.1317C>G (p.Ala439=) n.485C>G c.1356C>G (p.Ala452=)
2	g.46377961C>T	CA425924688	EPAS1	c.1317C>T (p.Ala439=) n.485C>T c.1356C>T (p.Ala452=)	dbSNP gnomAD v4
2	g.46377962A>C	CA346703790	EPAS1	c.1318A>C (p.Thr440Pro) n.486A>C c.1357A>C (p.Thr453Pro)
2	g.46377962A>G	CA346703792	EPAS1	c.1318A>G (p.Thr440Ala) n.486A>G c.1357A>G (p.Thr453Ala)
2	g.46377962A>T	CA346703794	EPAS1	c.1318A>T (p.Thr440Ser) n.486A>T c.1357A>T (p.Thr453Ser)	dbSNP
2	g.46377963C>A	CA346703795	EPAS1	c.1319C>A (p.Thr440Lys) n.487C>A c.1358C>A (p.Thr453Lys)
2	g.46377963C=	CA2495280927	EPAS1	c.1319C= (p.Thr440=) n.487C= c.1358C= (p.Thr453=)
2	g.46377963C>G	CA346703797	EPAS1	c.1319C>G (p.Thr440Arg) n.487C>G c.1358C>G (p.Thr453Arg)	ClinVar
2	g.46377963C>T	CA1644951	EPAS1	c.1319C>T (p.Thr440Met) n.487C>T c.1358C>T (p.Thr453Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.46377964G>A	CA1644952	EPAS1	c.1320G>A (p.Thr440=) n.488G>A c.1359G>A (p.Thr453=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377964G>C	CA425924696	EPAS1	c.1320G>C (p.Thr440=) n.488G>C c.1359G>C (p.Thr453=)	dbSNP gnomAD v4
2	g.46377964G=	CA2495280928	EPAS1	c.1320G= (p.Thr440=) n.488G= c.1359G= (p.Thr453=)
2	g.46377964G>T	CA425924697	EPAS1	c.1320G>T (p.Thr440=) n.488G>T c.1359G>T (p.Thr453=)	ClinVar
2	g.46377965G>A	CA346703804	EPAS1	c.1321G>A (p.Glu441Lys) n.489G>A c.1360G>A (p.Glu454Lys)
2	g.46377965G>C	CA346703802	EPAS1	c.1321G>C (p.Glu441Gln) n.489G>C c.1360G>C (p.Glu454Gln)	dbSNP
2	g.46377965G>T	CA346703800	EPAS1	c.1321G>T (p.Glu441Ter) n.489G>T c.1360G>T (p.Glu454Ter)
2	g.46377966A>C	CA346703805	EPAS1	c.1322A>C (p.Glu441Ala) n.490A>C c.1361A>C (p.Glu454Ala)
2	g.46377966A>G	CA346703806	EPAS1	c.1322A>G (p.Glu441Gly) n.490A>G c.1361A>G (p.Glu454Gly)
2	g.46377966A>T	CA346703808	EPAS1	c.1322A>T (p.Glu441Val) n.490A>T c.1361A>T (p.Glu454Val)
2	g.46377967G>A	CA425924707	EPAS1	c.1323G>A (p.Glu441=) n.491G>A c.1362G>A (p.Glu454=)	ClinVar dbSNP
2	g.46377967G>C	CA346703810	EPAS1	c.1323G>C (p.Glu441Asp) n.491G>C c.1362G>C (p.Glu454Asp)
2	g.46377967G>T	CA346703811	EPAS1	c.1323G>T (p.Glu441Asp) n.491G>T c.1362G>T (p.Glu454Asp)	gnomAD v4
2	g.46377968T>A	CA346703813	EPAS1	c.1324T>A (p.Leu442Met) n.492T>A c.1363T>A (p.Leu455Met)	dbSNP
2	g.46377968T>C	CA425924710	EPAS1	c.1324T>C (p.Leu442=) n.492T>C c.1363T>C (p.Leu455=)	dbSNP gnomAD v3 gnomAD v4
2	g.46377968T>G	CA346703814	EPAS1	c.1324T>G (p.Leu442Val) n.492T>G c.1363T>G (p.Leu455Val)
2	g.46377968T=	CA2495280929	EPAS1	c.1324T= (p.Leu442=) n.492T= c.1363T= (p.Leu455=)
2	g.46377969T>A	CA346703816	EPAS1	c.1325T>A (p.Leu442Ter) n.493T>A c.1364T>A (p.Leu455Ter)
2	g.46377969T>C	CA346703818	EPAS1	c.1325T>C (p.Leu442Ser) n.493T>C c.1364T>C (p.Leu455Ser)
2	g.46377969T>G	CA346703819	EPAS1	c.1325T>G (p.Leu442Trp) n.493T>G c.1364T>G (p.Leu455Trp)
2	g.46377970G>A	CA425924715	EPAS1	c.1326G>A (p.Leu442=) n.494G>A c.1365G>A (p.Leu455=)
2	g.46377970G>C	CA346703821	EPAS1	c.1326G>C (p.Leu442Phe) n.494G>C c.1365G>C (p.Leu455Phe)
2	g.46377970G>T	CA346703823	EPAS1	c.1326G>T (p.Leu442Phe) n.494G>T c.1365G>T (p.Leu455Phe)	ClinVar
2	g.46377971A=	CA2495280930	EPAS1	c.1327A= (p.Arg443=) n.495A= c.1366A= (p.Arg456=)
2	g.46377971A>C	CA425924719	EPAS1	c.1327A>C (p.Arg443=) n.495A>C c.1366A>C (p.Arg456=)
2	g.46377971A>G	CA346703826	EPAS1	c.1327A>G (p.Arg443Gly) n.495A>G c.1366A>G (p.Arg456Gly)	dbSNP gnomAD v2
2	g.46377971A>T	CA346703824	EPAS1	c.1327A>T (p.Arg443Trp) n.495A>T c.1366A>T (p.Arg456Trp)	ClinVar
2	g.46377972G>A	CA1644953	EPAS1	c.1328G>A (p.Arg443Lys) n.496G>A c.1367G>A (p.Arg456Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.46377972G>C	CA346703827	EPAS1	c.1328G>C (p.Arg443Thr) n.496G>C c.1367G>C (p.Arg456Thr)	dbSNP
2	g.46377972G=	CA2495280931	EPAS1	c.1328G= (p.Arg443=) n.496G= c.1367G= (p.Arg456=)
2	g.46377972G>T	CA346703829	EPAS1	c.1328G>T (p.Arg443Met) n.496G>T c.1367G>T (p.Arg456Met)	gnomAD v4
2	g.46377972_46377986dup	CA532704085	EPAS1	c.1328_1342dup (p.Thr447_Gln448insArgSerHisSerThr) n.496_510dup c.1367_1381dup (p.Thr460_Gln461insArgSerHisSerThr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377973G>A	CA46563863	EPAS1	c.1329G>A (p.Arg443=) n.497G>A c.1368G>A (p.Arg456=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.46377973G>C	CA346703831	EPAS1	c.1329G>C (p.Arg443Ser) n.497G>C c.1368G>C (p.Arg456Ser)	dbSNP
2	g.46377973G=	CA2495280932	EPAS1	c.1329G= (p.Arg443=) n.497G= c.1368G= (p.Arg456=)
2	g.46377973G>T	CA346703832	EPAS1	c.1329G>T (p.Arg443Ser) n.497G>T c.1368G>T (p.Arg456Ser)
2	g.46377974A>C	CA346703833	EPAS1	c.1330A>C (p.Ser444Arg) n.498A>C c.1369A>C (p.Ser457Arg)
2	g.46377974A>G	CA346703834	EPAS1	c.1330A>G (p.Ser444Gly) n.498A>G c.1369A>G (p.Ser457Gly)
2	g.46377974A>T	CA346703835	EPAS1	c.1330A>T (p.Ser444Cys) n.498A>T c.1369A>T (p.Ser457Cys)
2	g.46377975G>A	CA346703836	EPAS1	c.1331G>A (p.Ser444Asn) n.499G>A c.1370G>A (p.Ser457Asn)
2	g.46377975G>C	CA346703837	EPAS1	c.1331G>C (p.Ser444Thr) n.499G>C c.1370G>C (p.Ser457Thr)
2	g.46377975G>T	CA346703839	EPAS1	c.1331G>T (p.Ser444Ile) n.499G>T c.1370G>T (p.Ser457Ile)
2	g.46377976C>A	CA346703841	EPAS1	c.1332C>A (p.Ser444Arg) n.500C>A c.1371C>A (p.Ser457Arg)	dbSNP gnomAD v2
2	g.46377976C=	CA2495280933	EPAS1	c.1332C= (p.Ser444=) n.500C= c.1371C= (p.Ser457=)
2	g.46377976C>G	CA346703843	EPAS1	c.1332C>G (p.Ser444Arg) n.500C>G c.1371C>G (p.Ser457Arg)
2	g.46377976C>T	CA425924735	EPAS1	c.1332C>T (p.Ser444=) n.500C>T c.1371C>T (p.Ser457=)
2	g.46377977del	CA2658894046	EPAS1	c.1333del (p.His445ThrfsTer?) n.501del c.1372del (p.His458ThrfsTer?)	gnomAD v4
2	g.46377977C>A	CA346703847	EPAS1	c.1333C>A (p.His445Asn) n.501C>A c.1372C>A (p.His458Asn)
2	g.46377977C>G	CA346703844	EPAS1	c.1333C>G (p.His445Asp) n.501C>G c.1372C>G (p.His458Asp)
2	g.46377977C>T	CA346703845	EPAS1	c.1333C>T (p.His445Tyr) n.501C>T c.1372C>T (p.His458Tyr)	gnomAD v4
2	g.46377978A>C	CA346703848	EPAS1	c.1334A>C (p.His445Pro) n.502A>C c.1373A>C (p.His458Pro)
2	g.46377978A>G	CA346703850	EPAS1	c.1334A>G (p.His445Arg) n.502A>G c.1373A>G (p.His458Arg)
2	g.46377978A>T	CA346703852	EPAS1	c.1334A>T (p.His445Leu) n.502A>T c.1373A>T (p.His458Leu)	gnomAD v4
2	g.46377979C>A	CA346703853	EPAS1	c.1335C>A (p.His445Gln) n.503C>A c.1374C>A (p.His458Gln)
2	g.46377979C=	CA2495280934	EPAS1	c.1335C= (p.His445=) n.503C= c.1374C= (p.His458=)
2	g.46377979C>G	CA346703855	EPAS1	c.1335C>G (p.His445Gln) n.503C>G c.1374C>G (p.His458Gln)	gnomAD v4
2	g.46377979C>T	CA1644954	EPAS1	c.1335C>T (p.His445=) n.503C>T c.1374C>T (p.His458=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377980A=	CA2495280935	EPAS1	c.1336A= (p.Ser446=) n.504A= c.1375A= (p.Ser459=)
2	g.46377980A>C	CA46563865	EPAS1	c.1336A>C (p.Ser446Arg) n.504A>C c.1375A>C (p.Ser459Arg)	dbSNP gnomAD v4
2	g.46377980A>G	CA346703858	EPAS1	c.1336A>G (p.Ser446Gly) n.504A>G c.1375A>G (p.Ser459Gly)	ClinVar gnomAD v4
2	g.46377980A>T	CA346703859	EPAS1	c.1336A>T (p.Ser446Cys) n.504A>T c.1375A>T (p.Ser459Cys)
2	g.46377981G>A	CA346703861	EPAS1	c.1337G>A (p.Ser446Asn) n.505G>A c.1376G>A (p.Ser459Asn)	dbSNP gnomAD v4
2	g.46377981G>C	CA346703863	EPAS1	c.1337G>C (p.Ser446Thr) n.505G>C c.1376G>C (p.Ser459Thr)
2	g.46377981G>T	CA346703865	EPAS1	c.1337G>T (p.Ser446Ile) n.505G>T c.1376G>T (p.Ser459Ile)	gnomAD v4
2	g.46377982C>A	CA346703867	EPAS1	c.1338C>A (p.Ser446Arg) n.506C>A c.1377C>A (p.Ser459Arg)	dbSNP gnomAD v4
2	g.46377982C>G	CA346703866	EPAS1	c.1338C>G (p.Ser446Arg) n.506C>G c.1377C>G (p.Ser459Arg)
2	g.46377982C>T	CA425924756	EPAS1	c.1338C>T (p.Ser446=) n.506C>T c.1377C>T (p.Ser459=)	dbSNP gnomAD v4
2	g.46377983A=	CA2495280936	EPAS1	c.1339A= (p.Thr447=) n.507A= c.1378A= (p.Thr460=)
2	g.46377983A>C	CA346703869	EPAS1	c.1339A>C (p.Thr447Pro) n.507A>C c.1378A>C (p.Thr460Pro)	dbSNP
2	g.46377983A>G	CA346703872	EPAS1	c.1339A>G (p.Thr447Ala) n.507A>G c.1378A>G (p.Thr460Ala)	gnomAD v4
2	g.46377983A>T	CA1644955	EPAS1	c.1339A>T (p.Thr447Ser) n.507A>T c.1378A>T (p.Thr460Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.46377984C>A	CA346703873	EPAS1	c.1340C>A (p.Thr447Asn) n.508C>A c.1379C>A (p.Thr460Asn)	ClinVar
2	g.46377984C>G	CA346703875	EPAS1	c.1340C>G (p.Thr447Ser) n.508C>G c.1379C>G (p.Thr460Ser)
2	g.46377984C>T	CA346703877	EPAS1	c.1340C>T (p.Thr447Ile) n.508C>T c.1379C>T (p.Thr460Ile)	ClinVar
2	g.46377985C>A	CA425924765	EPAS1	c.1341C>A (p.Thr447=) n.509C>A c.1380C>A (p.Thr460=)
2	g.46377985C>G	CA425924766	EPAS1	c.1341C>G (p.Thr447=) n.509C>G c.1380C>G (p.Thr460=)
2	g.46377985C>T	CA425924769	EPAS1	c.1341C>T (p.Thr447=) n.509C>T c.1380C>T (p.Thr460=)
2	g.46377985_46377986insAAACACACCCAACA	CA2749772252	EPAS1	c.1341_1342insAAACACACCCAACA (p.Gln448LysfsTer?) n.509_510insAAACACACCCAACA c.1380_1381insAAACACACCCAACA (p.Gln461LysfsTer?)
2	g.46377986C>A	CA346703878	EPAS1	c.1342C>A (p.Gln448Lys) n.510C>A c.1381C>A (p.Gln461Lys)
2	g.46377986C>G	CA346703880	EPAS1	c.1342C>G (p.Gln448Glu) n.510C>G c.1381C>G (p.Gln461Glu)	gnomAD v4
2	g.46377986C>T	CA346703881	EPAS1	c.1342C>T (p.Gln448Ter) n.510C>T c.1381C>T (p.Gln461Ter)
2	g.46377987A>C	CA346703882	EPAS1	c.1343A>C (p.Gln448Pro) n.511A>C c.1382A>C (p.Gln461Pro)
2	g.46377987A>G	CA346703884	EPAS1	c.1343A>G (p.Gln448Arg) n.511A>G c.1382A>G (p.Gln461Arg)
2	g.46377987A>T	CA346703886	EPAS1	c.1343A>T (p.Gln448Leu) n.511A>T c.1382A>T (p.Gln461Leu)	gnomAD v4
2	g.46377987_46377999delinsAGAGCGAGGCTGG	CA2495280937	EPAS1	c.1343_1355delinsAGAGCGAGGCTGG (p.Gln448=) n.511_523delinsAGAGCGAGGCTGG c.1382_1394delinsAGAGCGAGGCTGG (p.Gln461=)
2	g.46377988G>A	CA425924776	EPAS1	c.1344G>A (p.Gln448=) n.512G>A c.1383G>A (p.Gln461=)
2	g.46377988G>C	CA1644956	EPAS1	c.1344G>C (p.Gln448His) n.512G>C c.1383G>C (p.Gln461His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.46377988G=	CA2495280938	EPAS1	c.1344G= (p.Gln448=) n.512G= c.1383G= (p.Gln461=)
2	g.46377988G>T	CA346703888	EPAS1	c.1344G>T (p.Gln448His) n.512G>T c.1383G>T (p.Gln461His)
2	g.46377992_46378003del	CA769341223	EPAS1	c.1348_1359del (p.Glu450_Ser453del) n.516_527del c.1387_1398del (p.Glu463_Ser466del)	dbSNP gnomAD v3 gnomAD v4
2	g.46377989A>C	CA346703891	EPAS1	c.1345A>C (p.Ser449Arg) n.513A>C c.1384A>C (p.Ser462Arg)
2	g.46377989A>G	CA346703890	EPAS1	c.1345A>G (p.Ser449Gly) n.513A>G c.1384A>G (p.Ser462Gly)	dbSNP
2	g.46377989A>T	CA346703889	EPAS1	c.1345A>T (p.Ser449Cys) n.513A>T c.1384A>T (p.Ser462Cys)
2	g.46377990G>A	CA1644957	EPAS1	c.1346G>A (p.Ser449Asn) n.514G>A c.1385G>A (p.Ser462Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377990G>C	CA346703892	EPAS1	c.1346G>C (p.Ser449Thr) n.514G>C c.1385G>C (p.Ser462Thr)
2	g.46377990G=	CA2495280939	EPAS1	c.1346G= (p.Ser449=) n.514G= c.1385G= (p.Ser462=)
2	g.46377990G>T	CA346703893	EPAS1	c.1346G>T (p.Ser449Ile) n.514G>T c.1385G>T (p.Ser462Ile)
2	g.46377991C>A	CA46563888	EPAS1	c.1347C>A (p.Ser449Arg) n.515C>A c.1386C>A (p.Ser462Arg)	dbSNP
2	g.46377991C=	CA2495280940	EPAS1	c.1347C= (p.Ser449=) n.515C= c.1386C= (p.Ser462=)
2	g.46377991C>G	CA1644959	EPAS1	c.1347C>G (p.Ser449Arg) n.515C>G c.1386C>G (p.Ser462Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.46377991C>T	CA1644958	EPAS1	c.1347C>T (p.Ser449=) n.515C>T c.1386C>T (p.Ser462=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377992G>A	CA46563892	EPAS1	c.1348G>A (p.Glu450Lys) n.516G>A c.1387G>A (p.Glu463Lys)	ClinVar dbSNP gnomAD v4
2	g.46377992G>C	CA346703894	EPAS1	c.1348G>C (p.Glu450Gln) n.516G>C c.1387G>C (p.Glu463Gln)
2	g.46377992G=	CA2495280941	EPAS1	c.1348G= (p.Glu450=) n.516G= c.1387G= (p.Glu463=)
2	g.46377992G>T	CA346703895	EPAS1	c.1348G>T (p.Glu450Ter) n.516G>T c.1387G>T (p.Glu463Ter)	gnomAD v4
2	g.46377993A>C	CA346703896	EPAS1	c.1349A>C (p.Glu450Ala) n.517A>C c.1388A>C (p.Glu463Ala)
2	g.46377993A>G	CA346703897	EPAS1	c.1349A>G (p.Glu450Gly) n.517A>G c.1388A>G (p.Glu463Gly)	dbSNP
2	g.46377993A>T	CA346703898	EPAS1	c.1349A>T (p.Glu450Val) n.517A>T c.1388A>T (p.Glu463Val)
2	g.46377994G>A	CA425924800	EPAS1	c.1350G>A (p.Glu450=) n.518G>A c.1389G>A (p.Glu463=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.46377994G>C	CA1644960	EPAS1	c.1350G>C (p.Glu450Asp) n.518G>C c.1389G>C (p.Glu463Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46377994G=	CA2495280942	EPAS1	c.1350G= (p.Glu450=) n.518G= c.1389G= (p.Glu463=)
2	g.46377994G>T	CA346703899	EPAS1	c.1350G>T (p.Glu450Asp) n.518G>T c.1389G>T (p.Glu463Asp)
2	g.46377995G>A	CA346703900	EPAS1	c.1351G>A (p.Ala451Thr) n.519G>A c.1390G>A (p.Ala464Thr)	gnomAD v4
2	g.46377995G>C	CA346703901	EPAS1	c.1351G>C (p.Ala451Pro) n.519G>C c.1390G>C (p.Ala464Pro)
2	g.46377995G>T	CA346703902	EPAS1	c.1351G>T (p.Ala451Ser) n.519G>T c.1390G>T (p.Ala464Ser)
2	g.46377996C>A	CA346703903	EPAS1	c.1352C>A (p.Ala451Asp) n.520C>A c.1391C>A (p.Ala464Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.46377996C=	CA2495280943	EPAS1	c.1352C= (p.Ala451=) n.520C= c.1391C= (p.Ala464=)
2	g.46377996C>G	CA346703904	EPAS1	c.1352C>G (p.Ala451Gly) n.520C>G c.1391C>G (p.Ala464Gly)
2	g.46377996C>T	CA346703905	EPAS1	c.1352C>T (p.Ala451Val) n.520C>T c.1391C>T (p.Ala464Val)
2	g.46377997T>A	CA425924807	EPAS1	c.1353T>A (p.Ala451=) n.521T>A c.1392T>A (p.Ala464=)	ClinVar
2	g.46377997T>C	CA425924809	EPAS1	c.1353T>C (p.Ala451=) n.521T>C c.1392T>C (p.Ala464=)
2	g.46377997T>G	CA425924811	EPAS1	c.1353T>G (p.Ala451=) n.521T>G c.1392T>G (p.Ala464=)
2	g.46377998G>A	CA346703906	EPAS1	c.1354G>A (p.Gly452Arg) n.522G>A c.1393G>A (p.Gly465Arg)	ClinVar dbSNP gnomAD v4
2	g.46377998G>C	CA346703907	EPAS1	c.1354G>C (p.Gly452Arg) n.522G>C c.1393G>C (p.Gly465Arg)	gnomAD v4
2	g.46377998G>T	CA346703908	EPAS1	c.1354G>T (p.Gly452Trp) n.522G>T c.1393G>T (p.Gly465Trp)
2	g.46377999G>A	CA346703909	EPAS1	c.1355G>A (p.Gly452Glu) n.523G>A c.1394G>A (p.Gly465Glu)	gnomAD v4
2	g.46377999G>C	CA346703910	EPAS1	c.1355G>C (p.Gly452Ala) n.523G>C c.1394G>C (p.Gly465Ala)
2	g.46377999G>T	CA346703911	EPAS1	c.1355G>T (p.Gly452Val) n.523G>T c.1394G>T (p.Gly465Val)	ClinVar
2	g.46378000G>A	CA46563897	EPAS1	c.1356G>A (p.Gly452=) n.524G>A c.1395G>A (p.Gly465=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.46378000G>C	CA425924817	EPAS1	c.1356G>C (p.Gly452=) n.524G>C c.1395G>C (p.Gly465=)
2	g.46378000G=	CA2495280944	EPAS1	c.1356G= (p.Gly452=) n.524G= c.1395G= (p.Gly465=)
2	g.46378000G>T	CA425924819	EPAS1	c.1356G>T (p.Gly452=) n.524G>T c.1395G>T (p.Gly465=)	gnomAD v4
2	g.46378001A>C	CA346703913	EPAS1	c.1357A>C (p.Ser453Arg) n.525A>C c.1396A>C (p.Ser466Arg)
2	g.46378001A>G	CA346703914	EPAS1	c.1357A>G (p.Ser453Gly) n.525A>G c.1396A>G (p.Ser466Gly)	ClinVar dbSNP gnomAD v4
2	g.46378001A>T	CA346703912	EPAS1	c.1357A>T (p.Ser453Cys) n.525A>T c.1396A>T (p.Ser466Cys)	gnomAD v4
2	g.46378002G>A	CA346703915	EPAS1	c.1358G>A (p.Ser453Asn) n.526G>A c.1397G>A (p.Ser466Asn)	dbSNP gnomAD v2
2	g.46378002G>C	CA346703916	EPAS1	c.1358G>C (p.Ser453Thr) n.526G>C c.1397G>C (p.Ser466Thr)	gnomAD v4
2	g.46378002G=	CA2495280945	EPAS1	c.1358G= (p.Ser453=) n.526G= c.1397G= (p.Ser466=)
2	g.46378002G>T	CA346703917	EPAS1	c.1358G>T (p.Ser453Ile) n.526G>T c.1397G>T (p.Ser466Ile)
2	g.46378003C>A	CA346703918	EPAS1	c.1359C>A (p.Ser453Arg) n.527C>A c.1398C>A (p.Ser466Arg)	dbSNP gnomAD v4
2	g.46378003C=	CA2495280946	EPAS1	c.1359C= (p.Ser453=) n.527C= c.1398C= (p.Ser466=)
2	g.46378003C>G	CA346703919	EPAS1	c.1359C>G (p.Ser453Arg) n.527C>G c.1398C>G (p.Ser466Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.46378003C>T	CA425924828	EPAS1	c.1359C>T (p.Ser453=) n.527C>T c.1398C>T (p.Ser466=)	dbSNP gnomAD v4
2	g.46378004C>A	CA346703921	EPAS1	c.1360C>A (p.Leu454Met) n.528C>A c.1399C>A (p.Leu467Met)	gnomAD v4
2	g.46378004C>G	CA346703920	EPAS1	c.1360C>G (p.Leu454Val) n.528C>G c.1399C>G (p.Leu467Val)
2	g.46378004C>T	CA425924831	EPAS1	c.1360C>T (p.Leu454=) n.528C>T c.1399C>T (p.Leu467=)
2	g.46378005T>A	CA346703922	EPAS1	c.1361T>A (p.Leu454Gln) n.529T>A c.1400T>A (p.Leu467Gln)	dbSNP
2	g.46378005T>C	CA346703923	EPAS1	c.1361T>C (p.Leu454Pro) n.529T>C c.1400T>C (p.Leu467Pro)	gnomAD v4
2	g.46378005T>G	CA346703924	EPAS1	c.1361T>G (p.Leu454Arg) n.529T>G c.1400T>G (p.Leu467Arg)
2	g.46378006G>A	CA425924836	EPAS1	c.1362G>A (p.Leu454=) n.530G>A c.1401G>A (p.Leu467=)	dbSNP gnomAD v4
2	g.46378006G>C	CA425924840	EPAS1	c.1362G>C (p.Leu454=) n.530G>C c.1401G>C (p.Leu467=)
2	g.46378006G=	CA2495280947	EPAS1	c.1362G= (p.Leu454=) n.530G= c.1401G= (p.Leu467=)
2	g.46378006G>T	CA425924838	EPAS1	c.1362G>T (p.Leu454=) n.530G>T c.1401G>T (p.Leu467=)	gnomAD v4
2	g.46378007C>A	CA346703925	EPAS1	c.1363C>A (p.Pro455Thr) n.531C>A c.1402C>A (p.Pro468Thr)	gnomAD v4 COSMIC
2	g.46378007C>G	CA346703926	EPAS1	c.1363C>G (p.Pro455Ala) n.531C>G c.1402C>G (p.Pro468Ala)
2	g.46378007C>T	CA346703927	EPAS1	c.1363C>T (p.Pro455Ser) n.531C>T c.1402C>T (p.Pro468Ser)	dbSNP gnomAD v4
2	g.46378008C>A	CA346703928	EPAS1	c.1364C>A (p.Pro455His) n.532C>A c.1403C>A (p.Pro468His)	gnomAD v4
2	g.46378008C>G	CA346703930	EPAS1	c.1364C>G (p.Pro455Arg) n.532C>G c.1403C>G (p.Pro468Arg)
2	g.46378008C>T	CA346703929	EPAS1	c.1364C>T (p.Pro455Leu) n.532C>T c.1403C>T (p.Pro468Leu)	gnomAD v4
2	g.46378009T>A	CA425924848	EPAS1	c.1365T>A (p.Pro455=) n.533T>A c.1404T>A (p.Pro468=)
2	g.46378009T>C	CA425924849	EPAS1	c.1365T>C (p.Pro455=) n.533T>C c.1404T>C (p.Pro468=)	dbSNP
2	g.46378009T>G	CA425924850	EPAS1	c.1365T>G (p.Pro455=) n.533T>G c.1404T>G (p.Pro468=)
2	g.46378010G>A	CA346703931	EPAS1	c.1366G>A (p.Ala456Thr) n.534G>A c.1405G>A (p.Ala469Thr)	ClinVar dbSNP gnomAD v4
2	g.46378010G>C	CA346703933	EPAS1	c.1366G>C (p.Ala456Pro) n.534G>C c.1405G>C (p.Ala469Pro)
2	g.46378010G=	CA2495280948	EPAS1	c.1366G= (p.Ala456=) n.534G= c.1405G= (p.Ala469=)
2	g.46378010G>T	CA346703932	EPAS1	c.1366G>T (p.Ala456Ser) n.534G>T c.1405G>T (p.Ala469Ser)	gnomAD v4
2	g.46378011C>A	CA346703934	EPAS1	c.1367C>A (p.Ala456Asp) n.535C>A c.1406C>A (p.Ala469Asp)	dbSNP gnomAD v4
2	g.46378011C>G	CA346703936	EPAS1	c.1367C>G (p.Ala456Gly) n.535C>G c.1406C>G (p.Ala469Gly)
2	g.46378011C>T	CA346703935	EPAS1	c.1367C>T (p.Ala456Val) n.535C>T c.1406C>T (p.Ala469Val)	gnomAD v4
2	g.46378012C>A	CA425924860	EPAS1	c.1368C>A (p.Ala456=) n.536C>A c.1407C>A (p.Ala469=)	ClinVar gnomAD v4
2	g.46378012C=	CA2495280949	EPAS1	c.1368C= (p.Ala456=) n.536C= c.1407C= (p.Ala469=)
2	g.46378012C>G	CA1644961	EPAS1	c.1368C>G (p.Ala456=) n.536C>G c.1407C>G (p.Ala469=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46378012C>T	CA425924863	EPAS1	c.1368C>T (p.Ala456=) n.536C>T c.1407C>T (p.Ala469=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.46378013T>A	CA346703939	EPAS1	c.1369T>A (p.Phe457Ile) n.537T>A c.1408T>A (p.Phe470Ile)	gnomAD v4
2	g.46378013T>C	CA346703937	EPAS1	c.1369T>C (p.Phe457Leu) n.537T>C c.1408T>C (p.Phe470Leu)
2	g.46378013T>G	CA346703938	EPAS1	c.1369T>G (p.Phe457Val) n.537T>G c.1408T>G (p.Phe470Val)
2	g.46378014del	CA2658894047	EPAS1	c.1370del (p.Phe457SerfsTer?) n.538del c.1409del (p.Phe470SerfsTer?)	gnomAD v4
2	g.46378014T>A	CA346703940	EPAS1	c.1370T>A (p.Phe457Tyr) n.538T>A c.1409T>A (p.Phe470Tyr)
2	g.46378014T>C	CA346703941	EPAS1	c.1370T>C (p.Phe457Ser) n.538T>C c.1409T>C (p.Phe470Ser)	dbSNP
2	g.46378014T>G	CA346703942	EPAS1	c.1370T>G (p.Phe457Cys) n.538T>G c.1409T>G (p.Phe470Cys)
2	g.46378015C>A	CA346703943	EPAS1	c.1371C>A (p.Phe457Leu) n.539C>A c.1410C>A (p.Phe470Leu)	gnomAD v4
2	g.46378015C>G	CA346703944	EPAS1	c.1371C>G (p.Phe457Leu) n.539C>G c.1410C>G (p.Phe470Leu)
2	g.46378015C>T	CA425924870	EPAS1	c.1371C>T (p.Phe457=) n.539C>T c.1410C>T (p.Phe470=)	ClinVar gnomAD v4
2	g.46378016A>C	CA346703945	EPAS1	c.1372A>C (p.Thr458Pro) n.540A>C c.1411A>C (p.Thr471Pro)
2	g.46378016A>G	CA346703946	EPAS1	c.1372A>G (p.Thr458Ala) n.540A>G c.1411A>G (p.Thr471Ala)	ClinVar
2	g.46378016A>T	CA346703947	EPAS1	c.1372A>T (p.Thr458Ser) n.540A>T c.1411A>T (p.Thr471Ser)
2	g.46378017C>A	CA346703948	EPAS1	c.1373C>A (p.Thr458Asn) n.541C>A c.1412C>A (p.Thr471Asn)
2	g.46378017C=	CA2495280950	EPAS1	c.1373C= (p.Thr458=) n.541C= c.1412C= (p.Thr471=)
2	g.46378017C>G	CA346703949	EPAS1	c.1373C>G (p.Thr458Ser) n.541C>G c.1412C>G (p.Thr471Ser)	gnomAD v4
2	g.46378017C>T	CA1644962	EPAS1	c.1373C>T (p.Thr458Ile) n.541C>T c.1412C>T (p.Thr471Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46378018C>A	CA1644963	EPAS1	c.1374C>A (p.Thr458=) n.542C>A c.1413C>A (p.Thr471=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.46378018C=	CA2495280951	EPAS1	c.1374C= (p.Thr458=) n.542C= c.1413C= (p.Thr471=)
2	g.46378018C>G	CA425924877	EPAS1	c.1374C>G (p.Thr458=) n.542C>G c.1413C>G (p.Thr471=)	dbSNP
2	g.46378018C>T	CA1644964	EPAS1	c.1374C>T (p.Thr458=) n.542C>T c.1413C>T (p.Thr471=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46378019G>A	CA346703950	EPAS1	c.1375G>A (p.Val459Met) n.543G>A c.1414G>A (p.Val472Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.46378019G>C	CA346703951	EPAS1	c.1375G>C (p.Val459Leu) n.543G>C c.1414G>C (p.Val472Leu)	gnomAD v4
2	g.46378019G=	CA2495280952	EPAS1	c.1375G= (p.Val459=) n.543G= c.1414G= (p.Val472=)
2	g.46378019G>T	CA346703952	EPAS1	c.1375G>T (p.Val459Leu) n.543G>T c.1414G>T (p.Val472Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.46378020T>A	CA346703953	EPAS1	c.1376T>A (p.Val459Glu) n.544T>A c.1415T>A (p.Val472Glu)
2	g.46378020T>C	CA346703954	EPAS1	c.1376T>C (p.Val459Ala) n.544T>C c.1415T>C (p.Val472Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.46378020T>G	CA1644965	EPAS1	c.1376T>G (p.Val459Gly) n.544T>G c.1415T>G (p.Val472Gly)	dbSNP ExAC gnomAD v2
2	g.46378020T=	CA2495280953	EPAS1	c.1376T= (p.Val459=) n.544T= c.1415T= (p.Val472=)
2	g.46378021G>A	CA425924885	EPAS1	c.1377G>A (p.Val459=) n.545G>A c.1416G>A (p.Val472=)	ClinVar gnomAD v4
2	g.46378021G>C	CA425924886	EPAS1	c.1377G>C (p.Val459=) n.545G>C c.1416G>C (p.Val472=)
2	g.46378021G=	CA2495280954	EPAS1	c.1377G= (p.Val459=) n.545G= c.1416G= (p.Val472=)
2	g.46378021G>T	CA425924888	EPAS1	c.1377G>T (p.Val459=) n.545G>T c.1416G>T (p.Val472=)	dbSNP gnomAD v2 gnomAD v4
2	g.46378022C>A	CA346703955	EPAS1	c.1378C>A (p.Pro460Thr) n.546C>A c.1417C>A (p.Pro473Thr)	dbSNP
2	g.46378022C=	CA2495280955	EPAS1	c.1378C= (p.Pro460=) n.546C= c.1417C= (p.Pro473=)
2	g.46378022C>G	CA346703956	EPAS1	c.1378C>G (p.Pro460Ala) n.546C>G c.1417C>G (p.Pro473Ala)
2	g.46378022C>T	CA346703957	EPAS1	c.1378C>T (p.Pro460Ser) n.546C>T c.1417C>T (p.Pro473Ser)	ClinVar dbSNP gnomAD v4
2	g.46378025del	CA2658894048	EPAS1	c.1381del (p.Gln461ArgfsTer?) n.549del c.1420del (p.Gln474ArgfsTer?)	gnomAD v4
2	g.46378023C>A	CA346703958	EPAS1	c.1379C>A (p.Pro460His) n.547C>A c.1418C>A (p.Pro473His)
2	g.46378023C=	CA2495280956	EPAS1	c.1379C= (p.Pro460=) n.547C= c.1418C= (p.Pro473=)
2	g.46378023C>G	CA346703959	EPAS1	c.1379C>G (p.Pro460Arg) n.547C>G c.1418C>G (p.Pro473Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.46378023C>T	CA346703960	EPAS1	c.1379C>T (p.Pro460Leu) n.547C>T c.1418C>T (p.Pro473Leu)	ClinVar gnomAD v4
2	g.46378024C>A	CA425924893	EPAS1	c.1380C>A (p.Pro460=) n.548C>A c.1419C>A (p.Pro473=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.46378024C=	CA2495280957	EPAS1	c.1380C= (p.Pro460=) n.548C= c.1419C= (p.Pro473=)
2	g.46378024C>G	CA425924895	EPAS1	c.1380C>G (p.Pro460=) n.548C>G c.1419C>G (p.Pro473=)
2	g.46378024C>T	CA1644966	EPAS1	c.1380C>T (p.Pro460=) n.548C>T c.1419C>T (p.Pro473=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.46378025C>A	CA346703961	EPAS1	c.1381C>A (p.Gln461Lys) n.549C>A c.1420C>A (p.Gln474Lys)
2	g.46378025C>G	CA346703963	EPAS1	c.1381C>G (p.Gln461Glu) n.549C>G c.1420C>G (p.Gln474Glu)
2	g.46378025C>T	CA346703962	EPAS1	c.1381C>T (p.Gln461Ter) n.549C>T c.1420C>T (p.Gln474Ter)

Number of alleles fetched