Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418895_219418913del	CA2754326441	DES	c.433_451del (p.Gly145TrpfsTer?)
2	g.219418894G>A	CA431427769	DES	c.432G>A (p.Lys144=)	gnomAD v4
2	g.219418894G>C	CA350686144	DES	c.432G>C (p.Lys144Asn)
2	g.219418894G>T	CA350686147	DES	c.432G>T (p.Lys144Asn)	gnomAD v4
2	g.219418896dup	CA2663250194	DES	c.434dup (p.Arg146ProfsTer26) c.434dup (p.Arg146ProfsTer?)	gnomAD v4
2	g.219418895G>A	CA350686158	DES	c.433G>A (p.Gly145Ser)
2	g.219418895G>C	CA350686160	DES	c.433G>C (p.Gly145Arg)
2	g.219418895G>T	CA350686153	DES	c.433G>T (p.Gly145Cys)
2	g.219418896G>A	CA350686173	DES	c.434G>A (p.Gly145Asp)	ClinVar dbSNP gnomAD v4
2	g.219418896G>C	CA350686166	DES	c.434G>C (p.Gly145Ala)	dbSNP
2	g.219418896G=	CA1329210068	DES	c.434G= (p.Gly145=)
2	g.219418896G>T	CA350686169	DES	c.434G>T (p.Gly145Val)
2	g.219418897C>A	CA431427776	DES	c.435C>A (p.Gly145=)	ClinVar
2	g.219418897C=	CA1329210069	DES	c.435C= (p.Gly145=)
2	g.219418897C>G	CA431427777	DES	c.435C>G (p.Gly145=)
2	g.219418897C>T	CA431427778	DES	c.435C>T (p.Gly145=)	ClinVar dbSNP gnomAD v4
2	g.219418898C>A	CA350686178	DES	c.436C>A (p.Arg146Ser)	gnomAD v4
2	g.219418898C>G	CA350686181	DES	c.436C>G (p.Arg146Gly)	ClinVar gnomAD v4
2	g.219418898C>T	CA350686195	DES	c.436C>T (p.Arg146Cys)	dbSNP gnomAD v4 COSMIC
2	g.219418898_219418900delinsTGG	CA2586971378	DES	c.436_438delinsTGG (p.Arg146Trp)
2	g.219418899G>A	CA350686197	DES	c.437G>A (p.Arg146His)	gnomAD v4
2	g.219418899G>C	CA350686198	DES	c.437G>C (p.Arg146Pro)
2	g.219418899G>T	CA350686200	DES	c.437G>T (p.Arg146Leu)	gnomAD v4
2	g.219418900C>A	CA431427788	DES	c.438C>A (p.Arg146=)	gnomAD v4
2	g.219418900C=	CA1329210070	DES	c.438C= (p.Arg146=)
2	g.219418900C>G	CA2125067	DES	c.438C>G (p.Arg146=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418900C>T	CA2125068	DES	c.438C>T (p.Arg146=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418901G>A	CA350686210	DES	c.439G>A (p.Glu147Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418901G>C	CA350686214	DES	c.439G>C (p.Glu147Gln)	ClinVar gnomAD v4
2	g.219418901G=	CA1329210071	DES	c.439G= (p.Glu147=)
2	g.219418901G>T	CA350686216	DES	c.439G>T (p.Glu147Ter)	gnomAD v4
2	g.219418902A>C	CA350686226	DES	c.440A>C (p.Glu147Ala)
2	g.219418902A>G	CA350686220	DES	c.440A>G (p.Glu147Gly)
2	g.219418902A>T	CA350686223	DES	c.440A>T (p.Glu147Val)
2	g.219418903G>A	CA431427794	DES	c.441G>A (p.Glu147=)	dbSNP gnomAD v4
2	g.219418903G>C	CA350686229	DES	c.441G>C (p.Glu147Asp)
2	g.219418903G=	CA1329210072	DES	c.441G= (p.Glu147=)
2	g.219418903G>T	CA350686231	DES	c.441G>T (p.Glu147Asp)
2	g.219418904C>A	CA350686235	DES	c.442C>A (p.Pro148Thr)	gnomAD v4
2	g.219418904C>G	CA350686238	DES	c.442C>G (p.Pro148Ala)
2	g.219418904C>T	CA350686241	DES	c.442C>T (p.Pro148Ser)	gnomAD v4
2	g.219418905C>A	CA350686246	DES	c.443C>A (p.Pro148Gln)	gnomAD v4
2	g.219418905C=	CA1329210073	DES	c.443C= (p.Pro148=)
2	g.219418905C>G	CA350686250	DES	c.443C>G (p.Pro148Arg)
2	g.219418905C>T	CA65981255	DES	c.443C>T (p.Pro148Leu)	dbSNP gnomAD v4
2	g.219418906G>A	CA431427798	DES	c.444G>A (p.Pro148=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418906G>C	CA2125069	DES	c.444G>C (p.Pro148=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418906G=	CA1329210074	DES	c.444G= (p.Pro148=)
2	g.219418906G>T	CA431427800	DES	c.444G>T (p.Pro148=)	dbSNP gnomAD v4
2	g.219418907A=	CA1329210075	DES	c.445A= (p.Thr149=)
2	g.219418907A>C	CA350686261	DES	c.445A>C (p.Thr149Pro)
2	g.219418907A>G	CA350686265	DES	c.445A>G (p.Thr149Ala)
2	g.219418907A>T	CA350686269	DES	c.445A>T (p.Thr149Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.219418908C>A	CA350686281	DES	c.446C>A (p.Thr149Lys)
2	g.219418908C=	CA1329210076	DES	c.446C= (p.Thr149=)
2	g.219418908C>G	CA350686276	DES	c.446C>G (p.Thr149Arg)	ClinVar gnomAD v4
2	g.219418908C>T	CA350686272	DES	c.446C>T (p.Thr149Met)	dbSNP gnomAD v3 gnomAD v4
2	g.219418909G>A	CA431427807	DES	c.447G>A (p.Thr149=)	ClinVar gnomAD v4
2	g.219418909G>C	CA431427806	DES	c.447G>C (p.Thr149=)	ClinVar dbSNP
2	g.219418909G=	CA1329210077	DES	c.447G= (p.Thr149=)
2	g.219418909G>T	CA431427805	DES	c.447G>T (p.Thr149=)	dbSNP gnomAD v4
2	g.219418910C>A	CA431427808	DES	c.448C>A (p.Arg150=)	gnomAD v4
2	g.219418910C>G	CA350686287	DES	c.448C>G (p.Arg150Gly)
2	g.219418910C>T	CA350686291	DES	c.448C>T (p.Arg150Ter)
2	g.219418914_219418921del	CA2499215677	DES	c.452_459del (p.Val151AlafsTer18) c.452_459del (p.Val151AlafsTer24)	ClinVar dbSNP
2	g.219418911G>A	CA10581142	DES	c.449G>A (p.Arg150Gln)	ClinVar dbSNP gnomAD v4
2	g.219418911G>C	CA350686296	DES	c.449G>C (p.Arg150Pro)	gnomAD v4
2	g.219418911G=	CA1329210078	DES	c.449G= (p.Arg150=)
2	g.219418911G>T	CA350686298	DES	c.449G>T (p.Arg150Leu)	gnomAD v4
2	g.219418912A=	CA1329210079	DES	c.450A= (p.Arg150=)
2	g.219418912A>C	CA431427814	DES	c.450A>C (p.Arg150=)	ClinVar dbSNP
2	g.219418912A>G	CA431427817	DES	c.450A>G (p.Arg150=)	dbSNP
2	g.219418912A>T	CA431427815	DES	c.450A>T (p.Arg150=)
2	g.219418913G>A	CA350686307	DES	c.451G>A (p.Val151Met)	gnomAD v4
2	g.219418913G>C	CA350686303	DES	c.451G>C (p.Val151Leu)
2	g.219418913G>T	CA350686300	DES	c.451G>T (p.Val151Leu)
2	g.219418914T>A	CA350686313	DES	c.452T>A (p.Val151Glu)
2	g.219418914T>C	CA350686316	DES	c.452T>C (p.Val151Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.219418914T>G	CA350686321	DES	c.452T>G (p.Val151Gly)
2	g.219418914T=	CA1329210080	DES	c.452T= (p.Val151=)
2	g.219418915G>A	CA431427820	DES	c.453G>A (p.Val151=)	gnomAD v4
2	g.219418915G>C	CA431427821	DES	c.453G>C (p.Val151=)	dbSNP
2	g.219418915G=	CA1329210081	DES	c.453G= (p.Val151=)
2	g.219418915G>T	CA431427823	DES	c.453G>T (p.Val151=)	dbSNP gnomAD v4
2	g.219418916G>A	CA350686326	DES	c.454G>A (p.Ala152Thr)
2	g.219418916G>C	CA350686330	DES	c.454G>C (p.Ala152Pro)
2	g.219418916G>T	CA350686334	DES	c.454G>T (p.Ala152Ser)
2	g.219418917C>A	CA350686338	DES	c.455C>A (p.Ala152Asp)
2	g.219418917C>G	CA350686348	DES	c.455C>G (p.Ala152Gly)
2	g.219418917C>T	CA350686345	DES	c.455C>T (p.Ala152Val)	gnomAD v4
2	g.219418918C>A	CA431427826	DES	c.456C>A (p.Ala152=)	gnomAD v4
2	g.219418918C=	CA1329210082	DES	c.456C= (p.Ala152=)
2	g.219418918C>G	CA431427827	DES	c.456C>G (p.Ala152=)	ClinVar gnomAD v4
2	g.219418918C>T	CA431427828	DES	c.456C>T (p.Ala152=)	ClinVar dbSNP gnomAD v4
2	g.219418919G>A	CA350686355	DES	c.457G>A (p.Glu153Lys)	dbSNP gnomAD v4
2	g.219418919G>C	CA350686358	DES	c.457G>C (p.Glu153Gln)
2	g.219418919G=	CA1329210083	DES	c.457G= (p.Glu153=)
2	g.219418919G>T	CA350686363	DES	c.457G>T (p.Glu153Ter)	gnomAD v4
2	g.219418920A>C	CA350686367	DES	c.458A>C (p.Glu153Ala)
2	g.219418920A>G	CA350686370	DES	c.458A>G (p.Glu153Gly)	ClinVar gnomAD v4
2	g.219418920A>T	CA350686373	DES	c.458A>T (p.Glu153Val)
2	g.219418921G>A	CA431427834	DES	c.459G>A (p.Glu153=)
2	g.219418921G>C	CA350686378	DES	c.459G>C (p.Glu153Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418921G=	CA1329210084	DES	c.459G= (p.Glu153=)
2	g.219418921G>T	CA350686382	DES	c.459G>T (p.Glu153Asp)	gnomAD v4 COSMIC
2	g.219418922C>A	CA2125070	DES	c.460C>A (p.Leu154Ile)	ClinVar dbSNP ExAC gnomAD v4
2	g.219418922C=	CA1329210085	DES	c.460C= (p.Leu154=)
2	g.219418922C>G	CA350686390	DES	c.460C>G (p.Leu154Val)
2	g.219418922C>T	CA350686394	DES	c.460C>T (p.Leu154Phe)	dbSNP gnomAD v2 gnomAD v4
2	g.219418923T>A	CA2125071	DES	c.461T>A (p.Leu154His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418923T>C	CA350686407	DES	c.461T>C (p.Leu154Pro)	ClinVar gnomAD v4
2	g.219418923T>G	CA350686402	DES	c.461T>G (p.Leu154Arg)
2	g.219418923T=	CA1329210086	DES	c.461T= (p.Leu154=)
2	g.219418924C>A	CA431427841	DES	c.462C>A (p.Leu154=)	gnomAD v4
2	g.219418924C=	CA1329210087	DES	c.462C= (p.Leu154=)
2	g.219418924C>G	CA431427842	DES	c.462C>G (p.Leu154=)	gnomAD v4
2	g.219418924C>T	CA431427843	DES	c.462C>T (p.Leu154=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418925T>A	CA350686415	DES	c.463T>A (p.Tyr155Asn)
2	g.219418925T>C	CA350686422	DES	c.463T>C (p.Tyr155His)
2	g.219418925T>G	CA350686418	DES	c.463T>G (p.Tyr155Asp)
2	g.219418926A>C	CA350686426	DES	c.464A>C (p.Tyr155Ser)
2	g.219418926A>G	CA350686435	DES	c.464A>G (p.Tyr155Cys)
2	g.219418926A>T	CA350686429	DES	c.464A>T (p.Tyr155Phe)
2	g.219418927C>A	CA350686441	DES	c.465C>A (p.Tyr155Ter)	dbSNP gnomAD v4
2	g.219418927C=	CA1329210088	DES	c.465C= (p.Tyr155=)
2	g.219418927C>G	CA350686447	DES	c.465C>G (p.Tyr155Ter)
2	g.219418927C>T	CA431427848	DES	c.465C>T (p.Tyr155=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.219418927_219418930delinsCGAG	CA1329210089	DES	c.465_468delinsCGAG (p.Tyr155=)
2	g.219418928G>A	CA2125072	DES	c.466G>A (p.Glu156Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418928G>C	CA350686456	DES	c.466G>C (p.Glu156Gln)	ClinVar dbSNP
2	g.219418928G=	CA1329210091	DES	c.466G= (p.Glu156=)
2	g.219418928G>T	CA350686459	DES	c.466G>T (p.Glu156Ter)
2	g.219418934_219418936del	CA1329210090	DES	c.472_474del (p.Glu158del)	ClinVar dbSNP
2	g.219418929A>C	CA350686464	DES	c.467A>C (p.Glu156Ala)
2	g.219418929A>G	CA350686471	DES	c.467A>G (p.Glu156Gly)	gnomAD v4
2	g.219418929A>T	CA350686474	DES	c.467A>T (p.Glu156Val)	ClinVar dbSNP
2	g.219418930G>A	CA431427851	DES	c.468G>A (p.Glu156=)
2	g.219418930G>C	CA350686481	DES	c.468G>C (p.Glu156Asp)
2	g.219418930G>T	CA350686482	DES	c.468G>T (p.Glu156Asp)
2	g.219418931G>A	CA350686483	DES	c.469G>A (p.Glu157Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418931G>C	CA350686485	DES	c.469G>C (p.Glu157Gln)
2	g.219418931G=	CA1329210092	DES	c.469G= (p.Glu157=)
2	g.219418931G>T	CA350686490	DES	c.469G>T (p.Glu157Ter)
2	g.219418932A>C	CA350686504	DES	c.470A>C (p.Glu157Ala)
2	g.219418932A>G	CA350686502	DES	c.470A>G (p.Glu157Gly)
2	g.219418932A>T	CA350686497	DES	c.470A>T (p.Glu157Val)
2	g.219418933G>A	CA431427856	DES	c.471G>A (p.Glu157=)
2	g.219418933G>C	CA350686507	DES	c.471G>C (p.Glu157Asp)
2	g.219418933G>T	CA350686510	DES	c.471G>T (p.Glu157Asp)
2	g.219418943_219418951dup	CA2577252530	DES	c.481_489dup (p.Arg163_Arg164insGluLeuArg)	ClinVar
2	g.219418934G>A	CA350686516	DES	c.472G>A (p.Glu158Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.219418934G>C	CA350686517	DES	c.472G>C (p.Glu158Gln)
2	g.219418934G=	CA1329210093	DES	c.472G= (p.Glu158=)
2	g.219418934G>T	CA350686524	DES	c.472G>T (p.Glu158Ter)
2	g.219418935A=	CA1329210094	DES	c.473A= (p.Glu158=)
2	g.219418935A>C	CA350686530	DES	c.473A>C (p.Glu158Ala)
2	g.219418935A>G	CA350686535	DES	c.473A>G (p.Glu158Gly)	gnomAD v4
2	g.219418935A>T	CA350686538	DES	c.473A>T (p.Glu158Val)	ClinVar dbSNP
2	g.219418936G>A	CA431427858	DES	c.474G>A (p.Glu158=)	gnomAD v4
2	g.219418936G>C	CA350686540	DES	c.474G>C (p.Glu158Asp)
2	g.219418936G>T	CA350686543	DES	c.474G>T (p.Glu158Asp)	gnomAD v4
2	g.219418937C>A	CA350686545	DES	c.475C>A (p.Leu159Met)	dbSNP gnomAD v4
2	g.219418937C=	CA1329210095	DES	c.475C= (p.Leu159=)
2	g.219418937C>G	CA350686549	DES	c.475C>G (p.Leu159Val)
2	g.219418937C>T	CA431427860	DES	c.475C>T (p.Leu159=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418938T>A	CA350686554	DES	c.476T>A (p.Leu159Gln)
2	g.219418938T>C	CA350686551	DES	c.476T>C (p.Leu159Pro)	ClinVar dbSNP gnomAD v4
2	g.219418938T>G	CA350686550	DES	c.476T>G (p.Leu159Arg)
2	g.219418938T=	CA1329210096	DES	c.476T= (p.Leu159=)
2	g.219418939G>A	CA431427865	DES	c.477G>A (p.Leu159=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418939G>C	CA431427866	DES	c.477G>C (p.Leu159=)
2	g.219418939G=	CA1329210097	DES	c.477G= (p.Leu159=)
2	g.219418939G>T	CA431427867	DES	c.477G>T (p.Leu159=)	gnomAD v4
2	g.219418940C>A	CA431427868	DES	c.478C>A (p.Arg160=)	gnomAD v4
2	g.219418940C=	CA1329210098	DES	c.478C= (p.Arg160=)
2	g.219418940C>G	CA350686556	DES	c.478C>G (p.Arg160Gly)
2	g.219418940C>T	CA350686558	DES	c.478C>T (p.Arg160Trp)	dbSNP gnomAD v2 gnomAD v4
2	g.219418941G>A	CA350686563	DES	c.479G>A (p.Arg160Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.219418941G>C	CA350686566	DES	c.479G>C (p.Arg160Pro)	gnomAD v4
2	g.219418941G=	CA1329210099	DES	c.479G= (p.Arg160=)
2	g.219418941G>T	CA350686567	DES	c.479G>T (p.Arg160Leu)
2	g.219418942G>A	CA431427877	DES	c.480G>A (p.Arg160=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418942G>C	CA431427875	DES	c.480G>C (p.Arg160=)	ClinVar dbSNP
2	g.219418942G=	CA1329210100	DES	c.480G= (p.Arg160=)
2	g.219418942G>T	CA431427876	DES	c.480G>T (p.Arg160=)	gnomAD v4
2	g.219418943G>A	CA350686570	DES	c.481G>A (p.Glu161Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.219418943G>C	CA350686571	DES	c.481G>C (p.Glu161Gln)
2	g.219418943G=	CA1329210101	DES	c.481G= (p.Glu161=)
2	g.219418943G>T	CA350686573	DES	c.481G>T (p.Glu161Ter)	gnomAD v4
2	g.219418944A=	CA1329210102	DES	c.482A= (p.Glu161=)
2	g.219418944A>C	CA350686574	DES	c.482A>C (p.Glu161Ala)	gnomAD v4
2	g.219418944A>G	CA350686579	DES	c.482A>G (p.Glu161Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418944A>T	CA350686581	DES	c.482A>T (p.Glu161Val)
2	g.219418944_219418952dup	CA2580065786	DES	c.482_490dup (p.Arg163_Arg164insGlnLeuArg)	ClinVar
2	g.219418945G>A	CA431427879	DES	c.483G>A (p.Glu161=)
2	g.219418945G>C	CA350686583	DES	c.483G>C (p.Glu161Asp)	ClinVar
2	g.219418945G>T	CA350686585	DES	c.483G>T (p.Glu161Asp)	gnomAD v4
2	g.219418946C>A	CA350686589	DES	c.484C>A (p.Leu162Met)	gnomAD v4
2	g.219418946C=	CA1329210103	DES	c.484C= (p.Leu162=)
2	g.219418946C>G	CA350686591	DES	c.484C>G (p.Leu162Val)
2	g.219418946C>T	CA431427883	DES	c.484C>T (p.Leu162=)	gnomAD v4
2	g.219418947T>A	CA350686594	DES	c.485T>A (p.Leu162Gln)
2	g.219418947T>C	CA350686595	DES	c.485T>C (p.Leu162Pro)	gnomAD v4
2	g.219418947T>G	CA350686598	DES	c.485T>G (p.Leu162Arg)	dbSNP
2	g.219418947T=	CA1329210104	DES	c.485T= (p.Leu162=)
2	g.219418950_219418967dup	CA916081390	DES	c.488_505dup (p.Val168_Leu169insArgArgGlnValGluVal) c.488_495+10dup	ClinVar dbSNP
2	g.219418948G>A	CA431427886	DES	c.486G>A (p.Leu162=)
2	g.219418948G>C	CA431427884	DES	c.486G>C (p.Leu162=)
2	g.219418948G>T	CA431427885	DES	c.486G>T (p.Leu162=)	gnomAD v4
2	g.219418949C>A	CA431427887	DES	c.487C>A (p.Arg163=)	gnomAD v4
2	g.219418949C>G	CA350686602	DES	c.487C>G (p.Arg163Gly)
2	g.219418949C>T	CA350686603	DES	c.487C>T (p.Arg163Trp)	gnomAD v4
2	g.219418950G>A	CA350686609	DES	c.488G>A (p.Arg163Gln)	ClinVar dbSNP
2	g.219418950G>C	CA350686610	DES	c.488G>C (p.Arg163Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418950G=	CA1329210105	DES	c.488G= (p.Arg163=)
2	g.219418950G>T	CA350686614	DES	c.488G>T (p.Arg163Leu)	gnomAD v4
2	g.219418951G>A	CA431427890	DES	c.489G>A (p.Arg163=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418951G>C	CA431427891	DES	c.489G>C (p.Arg163=)
2	g.219418951G=	CA1329210106	DES	c.489G= (p.Arg163=)
2	g.219418951G>T	CA431427892	DES	c.489G>T (p.Arg163=)
2	g.219418952C>A	CA350686616	DES	c.490C>A (p.Arg164Ser)	ClinVar gnomAD v4
2	g.219418952C>G	CA350686619	DES	c.490C>G (p.Arg164Gly)
2	g.219418952C>T	CA350686622	DES	c.490C>T (p.Arg164Cys)	gnomAD v4
2	g.219418953G>A	CA350686630	DES	c.491G>A (p.Arg164His)	dbSNP gnomAD v4
2	g.219418953G>C	CA350686627	DES	c.491G>C (p.Arg164Pro)
2	g.219418953G=	CA1329210107	DES	c.491G= (p.Arg164=)
2	g.219418953G>T	CA350686626	DES	c.491G>T (p.Arg164Leu)	gnomAD v4
2	g.219418954C>A	CA431427893	DES	c.492C>A (p.Arg164=)	gnomAD v4
2	g.219418954C=	CA1329210108	DES	c.492C= (p.Arg164=)
2	g.219418954C>G	CA431427894	DES	c.492C>G (p.Arg164=)
2	g.219418954C>T	CA431427895	DES	c.492C>T (p.Arg164=)	dbSNP gnomAD v2
2	g.219418954_219418982delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG	CA1329210109	DES	c.492_520delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG (p.Arg164=) c.492_495+25delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG
2	g.219418955C>A	CA350686632	DES	c.493C>A (p.Gln165Lys)
2	g.219418955C>G	CA350686644	DES	c.493C>G (p.Gln165Glu)
2	g.219418955C>T	CA350686641	DES	c.493C>T (p.Gln165Ter)	gnomAD v4
2	g.219418955_219418982delinsGCGT	CA645369281	DES	c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) c.493_495+25delinsGCGT	ClinVar dbSNP
2	g.219418956A=	CA1329210110	DES	c.494A= (p.Gln165=)
2	g.219418956A>C	CA350686646	DES	c.494A>C (p.Gln165Pro)
2	g.219418956A>G	CA350686649	DES	c.494A>G (p.Gln165Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418956A>T	CA350686652	DES	c.494A>T (p.Gln165Leu)
2	g.219418957G>A	CA431427897	DES	c.495G>A (p.Gln165=)	gnomAD v4
2	g.219418957G>C	CA350686655	DES	c.495G>C (p.Gln165His)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418957G=	CA1329210111	DES	c.495G= (p.Gln165=)
2	g.219418957G>T	CA350686657	DES	c.495G>T (p.Gln165His)	gnomAD v4
2	g.219418958G>A	CA350686662	DES	c.496G>A (p.Val166Met) c.495+1G>A (n.495+1G>A)
2	g.219418958G>C	CA350686664	DES	c.496G>C (p.Val166Leu) c.495+1G>C (n.495+1G>C)
2	g.219418958G>T	CA350686669	DES	c.496G>T (p.Val166Leu) c.495+1G>T (n.495+1G>T)	gnomAD v4
2	g.219418959T>A	CA350686672	DES	c.497T>A (p.Val166Glu) c.495+2T>A (n.495+2T>A)
2	g.219418959T>C	CA350686675	DES	c.497T>C (p.Val166Ala) c.495+2T>C (n.495+2T>C)
2	g.219418959T>G	CA350686679	DES	c.497T>G (p.Val166Gly) c.495+2T>G (n.495+2T>G)	gnomAD v4
2	g.219418960G>A	CA431427901	DES	c.498G>A (p.Val166=) c.495+3G>A (n.495+3G>A)
2	g.219418960G>C	CA431427902	DES	c.498G>C (p.Val166=) c.495+3G>C (n.495+3G>C)
2	g.219418960G>T	CA431427903	DES	c.498G>T (p.Val166=) c.495+3G>T (n.495+3G>T)
2	g.219418961G>A	CA350686688	DES	c.499G>A (p.Glu167Lys) c.495+4G>A (n.495+4G>A)	gnomAD v4
2	g.219418961G>C	CA350686685	DES	c.499G>C (p.Glu167Gln) c.495+4G>C (n.495+4G>C)	dbSNP gnomAD v4
2	g.219418961G=	CA1329210112	DES	c.499G= (p.Glu167=) c.495+4G= (n.495+4G=)
2	g.219418961G>T	CA350686682	DES	c.499G>T (p.Glu167Ter) c.495+4G>T (n.495+4G>T)
2	g.219418962A=	CA1329210113	DES	c.500A= (p.Glu167=) c.495+5A= (n.495+5A=)
2	g.219418962A>C	CA350686691	DES	c.500A>C (p.Glu167Ala) c.495+5A>C (n.495+5A>C)
2	g.219418962A>G	CA350686692	DES	c.500A>G (p.Glu167Gly) c.495+5A>G (n.495+5A>G)	ClinVar dbSNP gnomAD v4
2	g.219418962A>T	CA350686694	DES	c.500A>T (p.Glu167Val) c.495+5A>T (n.495+5A>T)	ClinVar dbSNP gnomAD v4
2	g.219418963G>A	CA431427907	DES	c.501G>A (p.Glu167=) c.495+6G>A (n.495+6G>A)
2	g.219418963G>C	CA350686698	DES	c.501G>C (p.Glu167Asp) c.495+6G>C (n.495+6G>C)
2	g.219418963G=	CA1329210114	DES	c.501G= (p.Glu167=) c.495+6G= (n.495+6G=)
2	g.219418963G>T	CA350686701	DES	c.501G>T (p.Glu167Asp) c.495+6G>T (n.495+6G>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418964G>A	CA350686705	DES	c.502G>A (p.Val168Met) c.495+7G>A (n.495+7G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.219418964G>C	CA350686708	DES	c.502G>C (p.Val168Leu) c.495+7G>C (n.495+7G>C)
2	g.219418964G=	CA1329210115	DES	c.502G= (p.Val168=) c.495+7G= (n.495+7G=)
2	g.219418964G>T	CA350686710	DES	c.502G>T (p.Val168Leu) c.495+7G>T (n.495+7G>T)
2	g.219418965T>A	CA350686715	DES	c.503T>A (p.Val168Glu) c.495+8T>A (n.495+8T>A)
2	g.219418965T>C	CA350686718	DES	c.503T>C (p.Val168Ala) c.495+8T>C (n.495+8T>C)
2	g.219418965T>G	CA350686719	DES	c.503T>G (p.Val168Gly) c.495+8T>G (n.495+8T>G)
2	g.219418966G>A	CA431427909	DES	c.504G>A (p.Val168=) c.495+9G>A (n.495+9G>A)	gnomAD v4
2	g.219418966G>C	CA431427910	DES	c.504G>C (p.Val168=) c.495+9G>C (n.495+9G>C)	dbSNP
2	g.219418966G=	CA1329210116	DES	c.504G= (p.Val168=) c.495+9G= (n.495+9G=)
2	g.219418966G>T	CA431427911	DES	c.504G>T (p.Val168=) c.495+9G>T (n.495+9G>T)
2	g.219418967C>A	CA350686727	DES	c.505C>A (p.Leu169Ile) c.495+10C>A (n.495+10C>A)	gnomAD v4
2	g.219418967C=	CA1329210117	DES	c.505C= (p.Leu169=) c.495+10C= (n.495+10C=)
2	g.219418967C>G	CA350686726	DES	c.505C>G (p.Leu169Val) c.495+10C>G (n.495+10C>G)
2	g.219418967C>T	CA350686724	DES	c.505C>T (p.Leu169Phe) c.495+10C>T (n.495+10C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.219418968T>A	CA350686729	DES	c.506T>A (p.Leu169His) c.495+11T>A (n.495+11T>A)
2	g.219418968T>C	CA350686732	DES	c.506T>C (p.Leu169Pro) c.495+11T>C (n.495+11T>C)	gnomAD v4
2	g.219418968T>G	CA350686735	DES	c.506T>G (p.Leu169Arg) c.495+11T>G (n.495+11T>G)
2	g.219418969C>A	CA431427915	DES	c.507C>A (p.Leu169=) c.495+12C>A (n.495+12C>A)
2	g.219418969C>G	CA431427913	DES	c.507C>G (p.Leu169=) c.495+12C>G (n.495+12C>G)
2	g.219418969C>T	CA431427914	DES	c.507C>T (p.Leu169=) c.495+12C>T (n.495+12C>T)	gnomAD v4
2	g.219418970A>C	CA350686739	DES	c.508A>C (p.Thr170Pro) c.495+13A>C (n.495+13A>C)
2	g.219418970A>G	CA350686742	DES	c.508A>G (p.Thr170Ala) c.495+13A>G (n.495+13A>G)	gnomAD v4
2	g.219418970A>T	CA350686744	DES	c.508A>T (p.Thr170Ser) c.495+13A>T (n.495+13A>T)
2	g.219418971del	CA2663250410	DES	c.509del (p.Thr170IlefsTer?) c.495+14del (n.495+14del)	gnomAD v4
2	g.219418971C>A	CA350686748	DES	c.509C>A (p.Thr170Asn) c.495+14C>A (n.495+14C>A)	gnomAD v4
2	g.219418971C=	CA1329210118	DES	c.509C= (p.Thr170=) c.495+14C= (n.495+14C=)
2	g.219418971C>G	CA350686751	DES	c.509C>G (p.Thr170Ser) c.495+14C>G (n.495+14C>G)
2	g.219418971C>T	CA350686754	DES	c.509C>T (p.Thr170Ile) c.495+14C>T (n.495+14C>T)	dbSNP gnomAD v4
2	g.219418972T>A	CA431427916	DES	c.510T>A (p.Thr170=) c.495+15T>A (n.495+15T>A)
2	g.219418972T>C	CA431427917	DES	c.510T>C (p.Thr170=) c.495+15T>C (n.495+15T>C)	ClinVar dbSNP gnomAD v4
2	g.219418972T>G	CA431427918	DES	c.510T>G (p.Thr170=) c.495+15T>G (n.495+15T>G)
2	g.219418972T=	CA1329210119	DES	c.510T= (p.Thr170=) c.495+15T= (n.495+15T=)
2	g.219418973A>C	CA350686757	DES	c.511A>C (p.Asn171His) c.495+16A>C (n.495+16A>C)
2	g.219418973A>G	CA350686758	DES	c.511A>G (p.Asn171Asp) c.495+16A>G (n.495+16A>G)	gnomAD v4
2	g.219418973A>T	CA350686760	DES	c.511A>T (p.Asn171Tyr) c.495+16A>T (n.495+16A>T)	gnomAD v4
2	g.219418974A>C	CA350686771	DES	c.512A>C (p.Asn171Thr) c.495+17A>C (n.495+17A>C)	ClinVar
2	g.219418974A>G	CA350686768	DES	c.512A>G (p.Asn171Ser) c.495+17A>G (n.495+17A>G)	gnomAD v4
2	g.219418974A>T	CA350686764	DES	c.512A>T (p.Asn171Ile) c.495+17A>T (n.495+17A>T)
2	g.219418975C>A	CA350686774	DES	c.513C>A (p.Asn171Lys) c.495+18C>A (n.495+18C>A)	gnomAD v4
2	g.219418975C>G	CA350686776	DES	c.513C>G (p.Asn171Lys) c.495+18C>G (n.495+18C>G)
2	g.219418975C>T	CA431427919	DES	c.513C>T (p.Asn171=) c.495+18C>T (n.495+18C>T)
2	g.219418976del	CA2663250414	DES	c.514del (p.Gln172SerfsTer29) c.495+19del (n.495+19del)	gnomAD v4
2	g.219418976C>A	CA350686780	DES	c.514C>A (p.Gln172Lys) c.495+19C>A (n.495+19C>A)	gnomAD v4
2	g.219418976C=	CA1329210121	DES	c.514C= (p.Gln172=) c.495+19C= (n.495+19C=)
2	g.219418976C>G	CA350686783	DES	c.514C>G (p.Gln172Glu) c.495+19C>G (n.495+19C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.219418976C>T	CA350686786	DES	c.514C>T (p.Gln172Ter) c.495+19C>T (n.495+19C>T)	ClinVar dbSNP
2	g.219418976_219418997delinsCAGCGCGCGCGCGTCGACGTCG	CA1329210120	DES	c.514_535delinsCAGCGCGCGCGCGTCGACGTCG (p.Gln172=) c.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG (n.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG)
2	g.219418977A>C	CA350686790	DES	c.515A>C (p.Gln172Pro) c.495+20A>C (n.495+20A>C)	ClinVar dbSNP
2	g.219418977A>G	CA350686793	DES	c.515A>G (p.Gln172Arg) c.495+20A>G (n.495+20A>G)	gnomAD v4
2	g.219418977A>T	CA350686796	DES	c.515A>T (p.Gln172Leu) c.495+20A>T (n.495+20A>T)	ClinVar gnomAD v4
2	g.219418977_219418979delinsAGC	CA1329210122	DES	c.515_517delinsAGC (p.Gln172=) c.495+20_495+22delinsAGC (n.495+20_495+22delinsAGC)
2	g.219418983_219419003del	CA217075	DES	c.521_541del (p.Ala174_Arg180del) c.495+26_495+46del (n.495+26_495+46del)	ClinVar dbSNP
2	g.219418978G>A	CA65981284	DES	c.516G>A (p.Gln172=) c.495+21G>A (n.495+21G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418978G>C	CA350686804	DES	c.516G>C (p.Gln172His) c.495+21G>C (n.495+21G>C)	gnomAD v4
2	g.219418978G=	CA1329210123	DES	c.516G= (p.Gln172=) c.495+21G= (n.495+21G=)
2	g.219418978G>T	CA350686815	DES	c.516G>T (p.Gln172His) c.495+21G>T (n.495+21G>T)	COSMIC
2	g.219418987_219418988dup	CA2580616703	DES	c.525_526dup (p.Val176AlafsTer26) c.495+30_495+31dup (n.495+30_495+31dup)	ClinVar
2	g.219418987_219418988del	CA2125073	DES	c.525_526del (p.Val176ArgfsTer?) c.495+30_495+31del (n.495+30_495+31del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.219418979C>A	CA2125074	DES	c.517C>A (p.Arg173Ser) c.495+22C>A (n.495+22C>A)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2	g.219418979C=	CA1329210124	DES	c.517C= (p.Arg173=) c.495+22C= (n.495+22C=)
2	g.219418979C>G	CA350686826	DES	c.517C>G (p.Arg173Gly) c.495+22C>G (n.495+22C>G)	ClinVar
2	g.219418979C>T	CA350686823	DES	c.517C>T (p.Arg173Cys) c.495+22C>T (n.495+22C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.219418980G>A	CA65981288	DES	c.518G>A (p.Arg173His) c.495+23G>A (n.495+23G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418980G>C	CA350686829	DES	c.518G>C (p.Arg173Pro) c.495+23G>C (n.495+23G>C)
2	g.219418980G=	CA1329210125	DES	c.518G= (p.Arg173=) c.495+23G= (n.495+23G=)
2	g.219418980G>T	CA350686832	DES	c.518G>T (p.Arg173Leu) c.495+23G>T (n.495+23G>T)	gnomAD v4
2	g.219418985_219419003del	CA2663250435	DES	c.523_541del (p.Arg175ThrfsTer20) c.495+28_495+46del (n.495+28_495+46del)	gnomAD v4
2	g.219418981C>A	CA431427925	DES	c.519C>A (p.Arg173=) c.495+24C>A (n.495+24C>A)	ClinVar dbSNP gnomAD v4
2	g.219418981C=	CA1329210126	DES	c.519C= (p.Arg173=) c.495+24C= (n.495+24C=)
2	g.219418981C>G	CA2125075	DES	c.519C>G (p.Arg173=) c.495+24C>G (n.495+24C>G)	dbSNP ExAC gnomAD v2
2	g.219418981C>T	CA431427927	DES	c.519C>T (p.Arg173=) c.495+24C>T (n.495+24C>T)	gnomAD v4
2	g.219418982G>A	CA350686838	DES	c.520G>A (p.Ala174Thr) c.495+25G>A (n.495+25G>A)	ClinVar gnomAD v4
2	g.219418982G>C	CA2125076	DES	c.520G>C (p.Ala174Pro) c.495+25G>C (n.495+25G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418982G=	CA1329210127	DES	c.520G= (p.Ala174=) c.495+25G= (n.495+25G=)
2	g.219418982G>T	CA350686842	DES	c.520G>T (p.Ala174Ser) c.495+25G>T (n.495+25G>T)	gnomAD v4
2	g.219418983C>A	CA350686850	DES	c.521C>A (p.Ala174Glu) c.495+26C>A (n.495+26C>A)	gnomAD v4
2	g.219418983C=	CA1329210128	DES	c.521C= (p.Ala174=) c.495+26C= (n.495+26C=)
2	g.219418983C>G	CA350686847	DES	c.521C>G (p.Ala174Gly) c.495+26C>G (n.495+26C>G)
2	g.219418983C>T	CA350686844	DES	c.521C>T (p.Ala174Val) c.495+26C>T (n.495+26C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.219418984G>A	CA431427928	DES	c.522G>A (p.Ala174=) c.495+27G>A (n.495+27G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.219418984G>C	CA431427929	DES	c.522G>C (p.Ala174=) c.495+27G>C (n.495+27G>C)	ClinVar dbSNP
2	g.219418984G=	CA1329210129	DES	c.522G= (p.Ala174=) c.495+27G= (n.495+27G=)
2	g.219418984G>T	CA431427930	DES	c.522G>T (p.Ala174=) c.495+27G>T (n.495+27G>T)	gnomAD v4
2	g.219418985C>A	CA350686853	DES	c.523C>A (p.Arg175Ser) c.495+28C>A (n.495+28C>A)	gnomAD v4
2	g.219418985C=	CA1329210130	DES	c.523C= (p.Arg175=) c.495+28C= (n.495+28C=)
2	g.219418985C>G	CA350686857	DES	c.523C>G (p.Arg175Gly) c.495+28C>G (n.495+28C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.219418985C>T	CA350686859	DES	c.523C>T (p.Arg175Cys) c.495+28C>T (n.495+28C>T)	gnomAD v4 COSMIC
2	g.219418986G>A	CA10581948	DES	c.524G>A (p.Arg175His) c.495+29G>A (n.495+29G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418986G>C	CA350686867	DES	c.524G>C (p.Arg175Pro) c.495+29G>C (n.495+29G>C)
2	g.219418986G=	CA1329210131	DES	c.524G= (p.Arg175=) c.495+29G= (n.495+29G=)
2	g.219418986G>T	CA350686870	DES	c.524G>T (p.Arg175Leu) c.495+29G>T (n.495+29G>T)	gnomAD v4
2	g.219418986_219418988del	CA2577252533	DES	c.524_526del (p.Arg175_Val176delinsLeu) c.495+29_495+31del (n.495+29_495+31del)
2	g.219418987C>A	CA431427933	DES	c.525C>A (p.Arg175=) c.495+30C>A (n.495+30C>A)	ClinVar dbSNP
2	g.219418987C=	CA1329210132	DES	c.525C= (p.Arg175=) c.495+30C= (n.495+30C=)
2	g.219418987C>G	CA431427934	DES	c.525C>G (p.Arg175=) c.495+30C>G (n.495+30C>G)
2	g.219418987C>T	CA431427935	DES	c.525C>T (p.Arg175=) c.495+30C>T (n.495+30C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.219418988G>A	CA350686874	DES	c.526G>A (p.Val176Ile) c.495+31G>A (n.495+31G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.219418988G>C	CA350686881	DES	c.526G>C (p.Val176Leu) c.495+31G>C (n.495+31G>C)	dbSNP
2	g.219418988G=	CA1329210133	DES	c.526G= (p.Val176=) c.495+31G= (n.495+31G=)
2	g.219418988G>T	CA350686878	DES	c.526G>T (p.Val176Phe) c.495+31G>T (n.495+31G>T)
2	g.219418989T>A	CA350686886	DES	c.527T>A (p.Val176Asp) c.495+32T>A (n.495+32T>A)
2	g.219418989T>C	CA350686889	DES	c.527T>C (p.Val176Ala) c.495+32T>C (n.495+32T>C)	gnomAD v4
2	g.219418989T>G	CA350686892	DES	c.527T>G (p.Val176Gly) c.495+32T>G (n.495+32T>G)
2	g.219418990C>A	CA431427936	DES	c.528C>A (p.Val176=) c.495+33C>A (n.495+33C>A)	gnomAD v4
2	g.219418990C=	CA1329210134	DES	c.528C= (p.Val176=) c.495+33C= (n.495+33C=)
2	g.219418990C>G	CA16604070	DES	c.528C>G (p.Val176=) c.495+33C>G (n.495+33C>G)	ClinVar dbSNP
2	g.219418990C>T	CA431427937	DES	c.528C>T (p.Val176=) c.495+33C>T (n.495+33C>T)	ClinVar dbSNP gnomAD v4
2	g.219418991G>A	CA16604072	DES	c.529G>A (p.Asp177Asn) c.495+34G>A (n.495+34G>A)	ClinVar dbSNP gnomAD v4
2	g.219418991G>C	CA350686897	DES	c.529G>C (p.Asp177His) c.495+34G>C (n.495+34G>C)	dbSNP gnomAD v2 gnomAD v4
2	g.219418991G=	CA1329210135	DES	c.529G= (p.Asp177=) c.495+34G= (n.495+34G=)
2	g.219418991G>T	CA350686899	DES	c.529G>T (p.Asp177Tyr) c.495+34G>T (n.495+34G>T)	gnomAD v4
2	g.219418992A>C	CA350686902	DES	c.530A>C (p.Asp177Ala) c.495+35A>C (n.495+35A>C)
2	g.219418992A>G	CA350686904	DES	c.530A>G (p.Asp177Gly) c.495+35A>G (n.495+35A>G)
2	g.219418992A>T	CA350686906	DES	c.530A>T (p.Asp177Val) c.495+35A>T (n.495+35A>T)
2	g.219418993C>A	CA350686912	DES	c.531C>A (p.Asp177Glu) c.495+36C>A (n.495+36C>A)	gnomAD v4
2	g.219418993C>G	CA350686914	DES	c.531C>G (p.Asp177Glu) c.495+36C>G (n.495+36C>G)
2	g.219418993C>T	CA431427938	DES	c.531C>T (p.Asp177=) c.495+36C>T (n.495+36C>T)	gnomAD v4
2	g.219418994del	CA2663250456	DES	c.532del (p.Val178SerfsTer23) c.495+37del (n.495+37del)	gnomAD v4
2	g.219418994G>A	CA350686919	DES	c.532G>A (p.Val178Ile) c.495+37G>A (n.495+37G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.219418994G>C	CA350686924	DES	c.532G>C (p.Val178Leu) c.495+37G>C (n.495+37G>C)
2	g.219418994G=	CA1329210136	DES	c.532G= (p.Val178=) c.495+37G= (n.495+37G=)
2	g.219418994G>T	CA350686921	DES	c.532G>T (p.Val178Phe) c.495+37G>T (n.495+37G>T)
2	g.219418994_219419009delinsGTCGAGCGCGACAACC	CA1329210137	DES	c.532_547delinsGTCGAGCGCGACAACC (p.Val178=) c.495+37_495+52delinsGTCGAGCGCGACAACC (n.495+37_495+52delinsGTCGAGCGCGACAACC)
2	g.219418994_219419012delinsGTCGAGCGCGACAACCTGC	CA1329210138	DES	c.532_550delinsGTCGAGCGCGACAACCTGC (p.Val178=) c.495+37_495+55delinsGTCGAGCGCGACAACCTGC (n.495+37_495+55delinsGTCGAGCGCGACAACCTGC)

Number of alleles fetched