Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.3082597_3082654del	CA2651674273	AVP	c.479_41del (n.[c.479_41del;Gln160ProfsTer?])	gnomAD v4
20	g.3082603_3082660del	CA2651674290	AVP	c.470_32del (n.[c.470_32del;Glu157AlafsTer?])	gnomAD v4
20	g.3082649del	CA2651674342	AVP	c.478del (p.Gln160SerfsTer?)	gnomAD v4
20	g.3082652_3082670del	CA2577322991	AVP	c.460_478del (p.Glu154SerfsTer?)
20	g.3082648G>A	CA509403824	AVP	c.477C>T (p.Ala159=)	gnomAD v4
20	g.3082648G>C	CA509403826	AVP	c.477C>G (p.Ala159=)
20	g.3082648G>T	CA509403827	AVP	c.477C>A (p.Ala159=)	gnomAD v4
20	g.3082649G>A	CA408061138	AVP	c.476C>T (p.Ala159Val)	gnomAD v4
20	g.3082649G>C	CA408061139	AVP	c.476C>G (p.Ala159Gly)	gnomAD v4
20	g.3082649G>T	CA408061140	AVP	c.476C>A (p.Ala159Asp)	gnomAD v4
20	g.3082649_3082650delinsGC	CA2346405136	AVP	c.475_476delinsGC (p.Ala159=)
20	g.3082650del	CA634168087	AVP	c.475del (p.Ala159ProfsTer?)	dbSNP gnomAD v2 gnomAD v4
20	g.3082650C>A	CA408061141	AVP	c.475G>T (p.Ala159Ser)	gnomAD v4
20	g.3082650C=	CA2346405139	AVP	c.475G= (p.Ala159=)
20	g.3082650C>G	CA408061142	AVP	c.475G>C (p.Ala159Pro)	gnomAD v4
20	g.3082650C>T	CA9739416	AVP	c.475G>A (p.Ala159Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082651G>A	CA509403837	AVP	c.474C>T (p.Pro158=)	ClinVar gnomAD v4
20	g.3082651G>C	CA509403838	AVP	c.474C>G (p.Pro158=)	dbSNP gnomAD v4
20	g.3082651G=	CA2346405142	AVP	c.474C= (p.Pro158=)
20	g.3082651G>T	CA509403835	AVP	c.474C>A (p.Pro158=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082653del	CA2651674343	AVP	c.474del (p.Ala159ProfsTer?)	gnomAD v4
20	g.3082652G>A	CA408061143	AVP	c.473C>T (p.Pro158Leu)	gnomAD v4
20	g.3082652G>C	CA408061144	AVP	c.473C>G (p.Pro158Arg)
20	g.3082652G>T	CA408061145	AVP	c.473C>A (p.Pro158His)	gnomAD v4
20	g.3082653G>A	CA408061146	AVP	c.472C>T (p.Pro158Ser)	gnomAD v4
20	g.3082653G>C	CA408061147	AVP	c.472C>G (p.Pro158Ala)	gnomAD v4
20	g.3082653G>T	CA408061148	AVP	c.472C>A (p.Pro158Thr)	gnomAD v4
20	g.3082654C>A	CA408061149	AVP	c.471G>T (p.Glu157Asp)	gnomAD v4
20	g.3082654C>G	CA408061150	AVP	c.471G>C (p.Glu157Asp)
20	g.3082654C>T	CA509403851	AVP	c.471G>A (p.Glu157=)	gnomAD v4
20	g.3082655T>A	CA408061151	AVP	c.470A>T (p.Glu157Val)	gnomAD v4
20	g.3082655T>C	CA408061152	AVP	c.470A>G (p.Glu157Gly)	dbSNP gnomAD v4
20	g.3082655T>G	CA408061153	AVP	c.470A>C (p.Glu157Ala)	gnomAD v4
20	g.3082655T=	CA2346405145	AVP	c.470A= (p.Glu157=)
20	g.3082656C>A	CA408061156	AVP	c.469G>T (p.Glu157Ter)	dbSNP gnomAD v3 gnomAD v4
20	g.3082656C=	CA2346405147	AVP	c.469G= (p.Glu157=)
20	g.3082656C>G	CA408061155	AVP	c.469G>C (p.Glu157Gln)	gnomAD v4
20	g.3082656C>T	CA408061154	AVP	c.469G>A (p.Glu157Lys)	gnomAD v4
20	g.3082657G>A	CA509403873	AVP	c.468C>T (p.Phe156=)	gnomAD v4
20	g.3082657G>C	CA408061157	AVP	c.468C>G (p.Phe156Leu)	dbSNP gnomAD v2 gnomAD v4
20	g.3082657G=	CA2346405149	AVP	c.468C= (p.Phe156=)
20	g.3082657G>T	CA408061158	AVP	c.468C>A (p.Phe156Leu)	dbSNP gnomAD v4
20	g.3082658A=	CA2346405152	AVP	c.467T= (p.Phe156=)
20	g.3082658A>C	CA408061159	AVP	c.467T>G (p.Phe156Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4
20	g.3082658A>G	CA408061160	AVP	c.467T>C (p.Phe156Ser)	gnomAD v4
20	g.3082658A>T	CA408061161	AVP	c.467T>A (p.Phe156Tyr)	gnomAD v4
20	g.3082659del	CA2651674345	AVP	c.467del (p.Phe156SerfsTer?)	gnomAD v4
20	g.3082662_3082703del	CA2651674344	AVP	c.426_467del (p.Leu142_Pro155del)	gnomAD v4
20	g.3082659A>C	CA408061162	AVP	c.466T>G (p.Phe156Val)
20	g.3082659A>G	CA408061163	AVP	c.466T>C (p.Phe156Leu)	gnomAD v4
20	g.3082659A>T	CA408061164	AVP	c.466T>A (p.Phe156Ile)	gnomAD v4
20	g.3082660G>A	CA509403880	AVP	c.465C>T (p.Pro155=)	gnomAD v4
20	g.3082660G>C	CA509403881	AVP	c.465C>G (p.Pro155=)	gnomAD v4
20	g.3082660G=	CA2346405156	AVP	c.465C= (p.Pro155=)
20	g.3082660G>T	CA310942840	AVP	c.465C>A (p.Pro155=)	dbSNP gnomAD v4
20	g.3082661G>A	CA408061165	AVP	c.464C>T (p.Pro155Leu)	gnomAD v4
20	g.3082661G>C	CA408061166	AVP	c.464C>G (p.Pro155Arg)
20	g.3082661G>T	CA408061167	AVP	c.464C>A (p.Pro155His)	gnomAD v4
20	g.3082662G>A	CA408061169	AVP	c.463C>T (p.Pro155Ser)	gnomAD v4
20	g.3082662G>C	CA408061170	AVP	c.463C>G (p.Pro155Ala)	gnomAD v4
20	g.3082662G>T	CA408061168	AVP	c.463C>A (p.Pro155Thr)	gnomAD v4
20	g.3082662_3082664delinsGCT	CA2346405159	AVP	c.461_463delinsAGC (p.Glu154=)
20	g.3082663C>A	CA408061172	AVP	c.462G>T (p.Glu154Asp)	gnomAD v4
20	g.3082663C>G	CA408061171	AVP	c.462G>C (p.Glu154Asp)
20	g.3082663C>T	CA509403892	AVP	c.462G>A (p.Glu154=)	gnomAD v4
20	g.3082664_3082665del	CA634168089	AVP	c.461_462del (p.Glu154AlafsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082663_3082670delinsCTCGGGCG	CA2346405161	AVP	c.455_462delinsCGCCCGAG (p.Ala152=)
20	g.3082664T>A	CA408061173	AVP	c.461A>T (p.Glu154Val)	gnomAD v4
20	g.3082664T>C	CA408061174	AVP	c.461A>G (p.Glu154Gly)	gnomAD v4
20	g.3082664T>G	CA408061175	AVP	c.461A>C (p.Glu154Ala)	gnomAD v4
20	g.3082664_3082670del	CA2346405167	AVP	c.455_461del (p.Ala152GlyfsTer?)	dbSNP
20	g.3082665C>A	CA408061176	AVP	c.460G>T (p.Glu154Ter)	gnomAD v4
20	g.3082665C=	CA2346405169	AVP	c.460G= (p.Glu154=)
20	g.3082665C>G	CA408061177	AVP	c.460G>C (p.Glu154Gln)
20	g.3082665C>T	CA9739417	AVP	c.460G>A (p.Glu154Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082667_3082670del	CA2577322992	AVP	c.457_460del (p.Pro153SerfsTer?)
20	g.3082668_3082709del	CA2651674346	AVP	c.419_460del (p.Gly140_Pro153del)	gnomAD v4
20	g.3082666G>A	CA509403902	AVP	c.459C>T (p.Pro153=)	gnomAD v4
20	g.3082666G>C	CA509403904	AVP	c.459C>G (p.Pro153=)
20	g.3082666G>T	CA509403906	AVP	c.459C>A (p.Pro153=)	gnomAD v4
20	g.3082668del	CA2651674347	AVP	c.459del (p.Glu154SerfsTer?)	gnomAD v4
20	g.3082666_3082671delinsGGGCGC	CA2346405171	AVP	c.454_459delinsGCGCCC (p.Ala152=)
20	g.3082667G>A	CA408061178	AVP	c.458C>T (p.Pro153Leu)	ClinVar gnomAD v4
20	g.3082667G>C	CA408061179	AVP	c.458C>G (p.Pro153Arg)
20	g.3082667G>T	CA408061180	AVP	c.458C>A (p.Pro153His)	gnomAD v4
20	g.3082667_3082671del	CA634168091	AVP	c.454_458del (p.Ala152ArgfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082670_3082677del	CA2651674348	AVP	c.451_458del (p.Gly151ArgfsTer?)	gnomAD v4
20	g.3082668G>A	CA408061181	AVP	c.457C>T (p.Pro153Ser)	ClinVar gnomAD v4
20	g.3082668G>C	CA408061182	AVP	c.457C>G (p.Pro153Ala)	dbSNP gnomAD v4
20	g.3082668G=	CA2346405178	AVP	c.457C= (p.Pro153=)
20	g.3082668G>T	CA408061183	AVP	c.457C>A (p.Pro153Thr)	gnomAD v4
20	g.3082669C>A	CA509403917	AVP	c.456G>T (p.Ala152=)	dbSNP gnomAD v4
20	g.3082669C=	CA2346405182	AVP	c.456G= (p.Ala152=)
20	g.3082669C>G	CA509403918	AVP	c.456G>C (p.Ala152=)
20	g.3082669C>T	CA509403920	AVP	c.456G>A (p.Ala152=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082670G>A	CA408061186	AVP	c.455C>T (p.Ala152Val)	dbSNP gnomAD v3 gnomAD v4
20	g.3082670G>C	CA408061184	AVP	c.455C>G (p.Ala152Gly)	gnomAD v4
20	g.3082670G>T	CA408061185	AVP	c.455C>A (p.Ala152Glu)	gnomAD v4
20	g.3082670_3082671delinsGC	CA2346405184	AVP	c.454_455delinsGC (p.Ala152=)
20	g.3082679_3082711del	CA2651674349	AVP	c.423_455del (p.Leu142_Ala152del)	gnomAD v4
20	g.3082671C>A	CA408061187	AVP	c.454G>T (p.Ala152Ser)	gnomAD v4
20	g.3082671C=	CA2346405189	AVP	c.454G= (p.Ala152=)
20	g.3082671C>G	CA408061188	AVP	c.454G>C (p.Ala152Pro)	dbSNP
20	g.3082671C>T	CA408061189	AVP	c.454G>A (p.Ala152Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082674dup	CA2651674351	AVP	c.454dup (p.Ala152GlyfsTer?)	gnomAD v4
20	g.3082674del	CA634168092	AVP	c.454del (p.Ala152ArgfsTer?)	dbSNP gnomAD v2 gnomAD v4
20	g.3082672_3082674del	CA2651674350	AVP	c.452_454del (p.Gly151del)	gnomAD v4
20	g.3082671_3082672insGGCGGTGAAAG	CA2651674352	AVP	c.453_454insCTTTCACCGCC (p.Ala152LeufsTer?)	gnomAD v4
20	g.3082672C>A	CA509403932	AVP	c.453G>T (p.Gly151=)	gnomAD v4
20	g.3082672C=	CA2346405190	AVP	c.453G= (p.Gly151=)
20	g.3082672C>G	CA509403935	AVP	c.453G>C (p.Gly151=)	gnomAD v4
20	g.3082672C>T	CA509403934	AVP	c.453G>A (p.Gly151=)	dbSNP gnomAD v4
20	g.3082676_3082717del	CA2651674353	AVP	c.412_453del (p.Pro138_Gly151del)	gnomAD v4
20	g.3082673C>A	CA408061190	AVP	c.452G>T (p.Gly151Val)	gnomAD v4
20	g.3082673C>G	CA408061191	AVP	c.452G>C (p.Gly151Ala)	gnomAD v4
20	g.3082673C>T	CA408061192	AVP	c.452G>A (p.Gly151Glu)	gnomAD v4
20	g.3082674C>A	CA408061193	AVP	c.451G>T (p.Gly151Trp)	dbSNP gnomAD v4 COSMIC
20	g.3082674C=	CA2346405194	AVP	c.451G= (p.Gly151=)
20	g.3082674C>G	CA408061194	AVP	c.451G>C (p.Gly151Arg)	gnomAD v4
20	g.3082674C>T	CA408061195	AVP	c.451G>A (p.Gly151Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082675G>A	CA509403945	AVP	c.450C>T (p.Ala150=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082675G>C	CA509403947	AVP	c.450C>G (p.Ala150=)	gnomAD v4
20	g.3082675G=	CA2346405198	AVP	c.450C= (p.Ala150=)
20	g.3082675G>T	CA509403949	AVP	c.450C>A (p.Ala150=)	gnomAD v4
20	g.3082676del	CA2651674354	AVP	c.450del (p.Ala152ArgfsTer?)	gnomAD v4
20	g.3082676G>A	CA408061196	AVP	c.449C>T (p.Ala150Val)	gnomAD v4
20	g.3082676G>C	CA408061197	AVP	c.449C>G (p.Ala150Gly)	gnomAD v4
20	g.3082676G>T	CA408061198	AVP	c.449C>A (p.Ala150Asp)	gnomAD v4
20	g.3082677C>A	CA408061201	AVP	c.448G>T (p.Ala150Ser)	gnomAD v4
20	g.3082677C>G	CA408061200	AVP	c.448G>C (p.Ala150Pro)
20	g.3082677C>T	CA408061199	AVP	c.448G>A (p.Ala150Thr)	gnomAD v4
20	g.3082685_3082726del	CA2535842482	AVP	c.407_448del (p.Asp136_Leu149del)	gnomAD v4
20	g.3082678C>A	CA509403958	AVP	c.447G>T (p.Leu149=)	gnomAD v4
20	g.3082678C>G	CA509403959	AVP	c.447G>C (p.Leu149=)	gnomAD v4
20	g.3082678C>T	CA509403960	AVP	c.447G>A (p.Leu149=)	gnomAD v4
20	g.3082679A>C	CA408061202	AVP	c.446T>G (p.Leu149Arg)
20	g.3082679A>G	CA408061203	AVP	c.446T>C (p.Leu149Pro)	gnomAD v4
20	g.3082679A>T	CA408061204	AVP	c.446T>A (p.Leu149Gln)
20	g.3082680G>A	CA509403962	AVP	c.445C>T (p.Leu149=)	gnomAD v4
20	g.3082680G>C	CA310942846	AVP	c.445C>G (p.Leu149Val)	dbSNP gnomAD v3 gnomAD v4
20	g.3082680G=	CA2346405200	AVP	c.445C= (p.Leu149=)
20	g.3082680G>T	CA408061205	AVP	c.445C>A (p.Leu149Met)	gnomAD v4
20	g.3082681C>A	CA408061206	AVP	c.444G>T (p.Gln148His)	gnomAD v4
20	g.3082681C>G	CA408061207	AVP	c.444G>C (p.Gln148His)	gnomAD v4
20	g.3082681C>T	CA509403968	AVP	c.444G>A (p.Gln148=)	gnomAD v4
20	g.3082682T>A	CA408061208	AVP	c.443A>T (p.Gln148Leu)	gnomAD v4
20	g.3082682T>C	CA408061209	AVP	c.443A>G (p.Gln148Arg)	gnomAD v4
20	g.3082682T>G	CA408061210	AVP	c.443A>C (p.Gln148Pro)
20	g.3082683G>A	CA408061211	AVP	c.442C>T (p.Gln148Ter)	gnomAD v4
20	g.3082683G>C	CA408061212	AVP	c.442C>G (p.Gln148Glu)	gnomAD v4
20	g.3082683G>T	CA408061213	AVP	c.442C>A (p.Gln148Lys)	gnomAD v4
20	g.3082686_3082694del	CA2577322993	AVP	c.434_442del (p.Arg145_Val147del)
20	g.3082684C>A	CA509403978	AVP	c.441G>T (p.Val147=)	gnomAD v4
20	g.3082684C=	CA2346405203	AVP	c.441G= (p.Val147=)
20	g.3082684C>G	CA509403981	AVP	c.441G>C (p.Val147=)	gnomAD v4
20	g.3082684C>T	CA509403982	AVP	c.441G>A (p.Val147=)	dbSNP gnomAD v4
20	g.3082685A=	CA2346405205	AVP	c.440T= (p.Val147=)
20	g.3082685A>C	CA9739418	AVP	c.440T>G (p.Val147Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082685A>G	CA408061214	AVP	c.440T>C (p.Val147Ala)	dbSNP gnomAD v4
20	g.3082685A>T	CA408061215	AVP	c.440T>A (p.Val147Glu)
20	g.3082686C>A	CA408061216	AVP	c.439G>T (p.Val147Leu)	gnomAD v4
20	g.3082686C>G	CA408061217	AVP	c.439G>C (p.Val147Leu)
20	g.3082686C>T	CA408061218	AVP	c.439G>A (p.Val147Met)	gnomAD v4
20	g.3082687del	CA2651674355	AVP	c.439del (p.Val147CysfsTer?)	gnomAD v4
20	g.3082687C>A	CA509403990	AVP	c.438G>T (p.Leu146=)	gnomAD v4
20	g.3082687C>G	CA509403991	AVP	c.438G>C (p.Leu146=)
20	g.3082687C>T	CA509403994	AVP	c.438G>A (p.Leu146=)	gnomAD v4
20	g.3082688A>C	CA408061219	AVP	c.437T>G (p.Leu146Arg)
20	g.3082688A>G	CA408061220	AVP	c.437T>C (p.Leu146Pro)	gnomAD v4
20	g.3082688A>T	CA408061221	AVP	c.437T>A (p.Leu146Gln)	gnomAD v4
20	g.3082689G>A	CA509404000	AVP	c.436C>T (p.Leu146=)	gnomAD v4
20	g.3082689G>C	CA408061222	AVP	c.436C>G (p.Leu146Val)	gnomAD v4
20	g.3082689G>T	CA408061223	AVP	c.436C>A (p.Leu146Met)	gnomAD v4
20	g.3082690C>A	CA509404004	AVP	c.435G>T (p.Arg145=)	gnomAD v4
20	g.3082690C=	CA2346405207	AVP	c.435G= (p.Arg145=)
20	g.3082690C>G	CA509404005	AVP	c.435G>C (p.Arg145=)
20	g.3082690C>T	CA509404008	AVP	c.435G>A (p.Arg145=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082691C>A	CA408061224	AVP	c.434G>T (p.Arg145Leu)	gnomAD v4
20	g.3082691C=	CA2346405209	AVP	c.434G= (p.Arg145=)
20	g.3082691C>G	CA310942870	AVP	c.434G>C (p.Arg145Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
20	g.3082691C>T	CA408061225	AVP	c.434G>A (p.Arg145Gln)	dbSNP gnomAD v3 gnomAD v4
20	g.3082692G>A	CA408061226	AVP	c.433C>T (p.Arg145Trp)	gnomAD v4
20	g.3082692G>C	CA408061227	AVP	c.433C>G (p.Arg145Gly)	gnomAD v4
20	g.3082692G=	CA2346405214	AVP	c.433C= (p.Arg145=)
20	g.3082692G>T	CA310942877	AVP	c.433C>A (p.Arg145=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082693C>A	CA509404020	AVP	c.432G>T (p.Leu144=)	gnomAD v4
20	g.3082693C>G	CA509404021	AVP	c.432G>C (p.Leu144=)
20	g.3082693C>T	CA509404018	AVP	c.432G>A (p.Leu144=)	gnomAD v4
20	g.3082694A>C	CA408061229	AVP	c.431T>G (p.Leu144Arg)	gnomAD v4
20	g.3082694A>G	CA408061230	AVP	c.431T>C (p.Leu144Pro)	gnomAD v4
20	g.3082694A>T	CA408061228	AVP	c.431T>A (p.Leu144Gln)
20	g.3082695G>A	CA509404026	AVP	c.430C>T (p.Leu144=)	gnomAD v4
20	g.3082695G>C	CA408061232	AVP	c.430C>G (p.Leu144Val)
20	g.3082695G>T	CA408061231	AVP	c.430C>A (p.Leu144Met)	gnomAD v4
20	g.3082696C>A	CA509404035	AVP	c.429G>T (p.Leu143=)	gnomAD v4
20	g.3082696C>G	CA509404031	AVP	c.429G>C (p.Leu143=)	gnomAD v4
20	g.3082696C>T	CA509404034	AVP	c.429G>A (p.Leu143=)	gnomAD v4
20	g.3082697A>C	CA408061233	AVP	c.428T>G (p.Leu143Arg)
20	g.3082697A>G	CA408061234	AVP	c.428T>C (p.Leu143Pro)	gnomAD v4
20	g.3082697A>T	CA408061235	AVP	c.428T>A (p.Leu143Gln)
20	g.3082698G>A	CA509404050	AVP	c.427C>T (p.Leu143=)	gnomAD v4
20	g.3082698G>C	CA408061236	AVP	c.427C>G (p.Leu143Val)	gnomAD v4
20	g.3082698G>T	CA408061237	AVP	c.427C>A (p.Leu143Met)	gnomAD v4
20	g.3082699C>A	CA408061238	AVP	c.426G>T (p.Leu142Phe)	gnomAD v4
20	g.3082699C=	CA2346405218	AVP	c.426G= (p.Leu142=)
20	g.3082699C>G	CA408061239	AVP	c.426G>C (p.Leu142Phe)	dbSNP
20	g.3082699C>T	CA509404055	AVP	c.426G>A (p.Leu142=)	gnomAD v4
20	g.3082700A>C	CA408061240	AVP	c.425T>G (p.Leu142Trp)
20	g.3082700A>G	CA408061242	AVP	c.425T>C (p.Leu142Ser)	gnomAD v4
20	g.3082700A>T	CA408061241	AVP	c.425T>A (p.Leu142Ter)	gnomAD v4
20	g.3082701A>C	CA408061243	AVP	c.424T>G (p.Leu142Val)
20	g.3082701A>G	CA509404071	AVP	c.424T>C (p.Leu142=)	gnomAD v4
20	g.3082701A>T	CA408061244	AVP	c.424T>A (p.Leu142Met)
20	g.3082702G>A	CA509404075	AVP	c.423C>T (p.Ala141=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082702G>C	CA509404077	AVP	c.423C>G (p.Ala141=)
20	g.3082702G=	CA2346405220	AVP	c.423C= (p.Ala141=)
20	g.3082702G>T	CA509404079	AVP	c.423C>A (p.Ala141=)	gnomAD v4
20	g.3082703G>A	CA310942881	AVP	c.422C>T (p.Ala141Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082703G>C	CA408061245	AVP	c.422C>G (p.Ala141Gly)	gnomAD v4
20	g.3082703G=	CA2346405222	AVP	c.422C= (p.Ala141=)
20	g.3082703G>T	CA408061246	AVP	c.422C>A (p.Ala141Asp)	gnomAD v4
20	g.3082704C>A	CA408061247	AVP	c.421G>T (p.Ala141Ser)	gnomAD v4
20	g.3082704C=	CA2346405224	AVP	c.421G= (p.Ala141=)
20	g.3082704C>G	CA408061248	AVP	c.421G>C (p.Ala141Pro)	gnomAD v4
20	g.3082704C>T	CA9739419	AVP	c.421G>A (p.Ala141Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082707del	CA634168094	AVP	c.421del (p.Ala141ProfsTer?)	gnomAD v2 gnomAD v4
20	g.3082705C>A	CA509404090	AVP	c.420G>T (p.Gly140=)	gnomAD v4
20	g.3082705C>G	CA509404093	AVP	c.420G>C (p.Gly140=)	gnomAD v4
20	g.3082705C>T	CA509404095	AVP	c.420G>A (p.Gly140=)	gnomAD v4
20	g.3082706C>A	CA408061249	AVP	c.419G>T (p.Gly140Val)	gnomAD v4
20	g.3082706C>G	CA408061250	AVP	c.419G>C (p.Gly140Ala)
20	g.3082706C>T	CA408061251	AVP	c.419G>A (p.Gly140Glu)	gnomAD v4
20	g.3082707C>A	CA408061252	AVP	c.418G>T (p.Gly140Trp)	gnomAD v4
20	g.3082707C=	CA2346405230	AVP	c.418G= (p.Gly140=)
20	g.3082707C>G	CA408061253	AVP	c.418G>C (p.Gly140Arg)	gnomAD v4
20	g.3082707C>T	CA310942915	AVP	c.418G>A (p.Gly140Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
20	g.3082708G>A	CA509404102	AVP	c.417C>T (p.Ala139=)	gnomAD v4
20	g.3082708G>C	CA509404104	AVP	c.417C>G (p.Ala139=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082708G=	CA2346405232	AVP	c.417C= (p.Ala139=)
20	g.3082708G>T	CA310942928	AVP	c.417C>A (p.Ala139=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082709G>A	CA408061254	AVP	c.416C>T (p.Ala139Val)	gnomAD v4
20	g.3082709G>C	CA408061255	AVP	c.416C>G (p.Ala139Gly)	gnomAD v4
20	g.3082709G=	CA2346405235	AVP	c.416C= (p.Ala139=)
20	g.3082709G>T	CA310942943	AVP	c.416C>A (p.Ala139Asp)	dbSNP gnomAD v4
20	g.3082710C>A	CA408061256	AVP	c.415G>T (p.Ala139Ser)	gnomAD v4
20	g.3082710C>G	CA408061257	AVP	c.415G>C (p.Ala139Pro)
20	g.3082710C>T	CA408061258	AVP	c.415G>A (p.Ala139Thr)	gnomAD v4
20	g.3082711C>A	CA509404115	AVP	c.414G>T (p.Pro138=)	gnomAD v4
20	g.3082711C=	CA2346405237	AVP	c.414G= (p.Pro138=)
20	g.3082711C>G	CA509404117	AVP	c.414G>C (p.Pro138=)	gnomAD v4
20	g.3082711C>T	CA509404118	AVP	c.414G>A (p.Pro138=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082712G>A	CA408061259	AVP	c.413C>T (p.Pro138Leu)	dbSNP gnomAD v4
20	g.3082712G>C	CA408061261	AVP	c.413C>G (p.Pro138Arg)	gnomAD v4
20	g.3082712G=	CA2346405239	AVP	c.413C= (p.Pro138=)
20	g.3082712G>T	CA408061260	AVP	c.413C>A (p.Pro138Gln)	gnomAD v4
20	g.3082713G>A	CA408061262	AVP	c.412C>T (p.Pro138Ser)	gnomAD v4
20	g.3082713G>C	CA408061263	AVP	c.412C>G (p.Pro138Ala)
20	g.3082713G>T	CA408061264	AVP	c.412C>A (p.Pro138Thr)	gnomAD v4
20	g.3082714C>A	CA509404128	AVP	c.411G>T (p.Gly137=)	gnomAD v4
20	g.3082714C>G	CA509404132	AVP	c.411G>C (p.Gly137=)	gnomAD v4
20	g.3082714C>T	CA509404130	AVP	c.411G>A (p.Gly137=)	gnomAD v4
20	g.3082716del	CA2651674356	AVP	c.411del (p.Pro138ArgfsTer?)	gnomAD v4
20	g.3082715_3082716del	CA2651674357	AVP	c.410_411del (p.Gly137AlafsTer?)	gnomAD v4
20	g.3082715C>A	CA408061265	AVP	c.410G>T (p.Gly137Val)	gnomAD v4
20	g.3082715C=	CA2346405241	AVP	c.410G= (p.Gly137=)
20	g.3082715C>G	CA408061266	AVP	c.410G>C (p.Gly137Ala)	gnomAD v4
20	g.3082715C>T	CA408061267	AVP	c.410G>A (p.Gly137Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082716C>A	CA310942949	AVP	c.409G>T (p.Gly137Trp)	dbSNP gnomAD v3 gnomAD v4
20	g.3082716C=	CA2346405246	AVP	c.409G= (p.Gly137=)
20	g.3082716C>G	CA310942948	AVP	c.409G>C (p.Gly137Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082716C>T	CA9739420	AVP	c.409G>A (p.Gly137Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3082717G>A	CA509404137	AVP	c.408C>T (p.Asp136=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082717G>C	CA408061268	AVP	c.408C>G (p.Asp136Glu)
20	g.3082717G=	CA2346405248	AVP	c.408C= (p.Asp136=)
20	g.3082717G>T	CA408061269	AVP	c.408C>A (p.Asp136Glu)	dbSNP gnomAD v3 gnomAD v4
20	g.3082718T>A	CA408061270	AVP	c.407A>T (p.Asp136Val)
20	g.3082718T>C	CA408061271	AVP	c.407A>G (p.Asp136Gly)	gnomAD v4
20	g.3082718T>G	CA408061272	AVP	c.407A>C (p.Asp136Ala)	gnomAD v4
20	g.3082719C>A	CA408061273	AVP	c.406G>T (p.Asp136Tyr)	gnomAD v4
20	g.3082719C>G	CA408061275	AVP	c.406G>C (p.Asp136His)	gnomAD v4
20	g.3082719C>T	CA408061274	AVP	c.406G>A (p.Asp136Asn)	gnomAD v4
20	g.3082720del	CA2651674358	AVP	c.406del (p.Asp136ThrfsTer?)	gnomAD v4
20	g.3082720C>A	CA509404152	AVP	c.405G>T (p.Leu135=)	gnomAD v4
20	g.3082720C>G	CA509404154	AVP	c.405G>C (p.Leu135=)	gnomAD v4
20	g.3082720C>T	CA509404155	AVP	c.405G>A (p.Leu135=)	gnomAD v4
20	g.3082721A=	CA2346405251	AVP	c.404T= (p.Leu135=)
20	g.3082721A>C	CA408061276	AVP	c.404T>G (p.Leu135Arg)
20	g.3082721A>G	CA408061277	AVP	c.404T>C (p.Leu135Pro)	dbSNP gnomAD v4
20	g.3082721A>T	CA408061278	AVP	c.404T>A (p.Leu135Gln)	gnomAD v4
20	g.3082722G>A	CA310942950	AVP	c.403C>T (p.Leu135=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082722G>C	CA408061279	AVP	c.403C>G (p.Leu135Val)
20	g.3082722G=	CA2346405255	AVP	c.403C= (p.Leu135=)
20	g.3082722G>T	CA408061280	AVP	c.403C>A (p.Leu135Met)	gnomAD v4
20	g.3082723C>A	CA408061281	AVP	c.402G>T (p.Gln134His)	gnomAD v4
20	g.3082723C>G	CA408061282	AVP	c.402G>C (p.Gln134His)	gnomAD v4
20	g.3082723C>T	CA509404165	AVP	c.402G>A (p.Gln134=)	gnomAD v4
20	g.3082724T>A	CA408061283	AVP	c.401A>T (p.Gln134Leu)
20	g.3082724T>C	CA408061284	AVP	c.401A>G (p.Gln134Arg)	gnomAD v4
20	g.3082724T>G	CA408061285	AVP	c.401A>C (p.Gln134Pro)
20	g.3082725G>A	CA408061286	AVP	c.400C>T (p.Gln134Ter)	gnomAD v4
20	g.3082725G>C	CA408061288	AVP	c.400C>G (p.Gln134Glu)	dbSNP
20	g.3082725G=	CA2346405258	AVP	c.400C= (p.Gln134=)
20	g.3082725G>T	CA408061287	AVP	c.400C>A (p.Gln134Lys)	gnomAD v4
20	g.3082726C>A	CA509404177	AVP	c.399G>T (p.Thr133=)	gnomAD v4
20	g.3082726C=	CA2346405263	AVP	c.399G= (p.Thr133=)
20	g.3082726C>G	CA509404174	AVP	c.399G>C (p.Thr133=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082726C>T	CA509404172	AVP	c.399G>A (p.Thr133=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082727G>A	CA408061289	AVP	c.398C>T (p.Thr133Met)	gnomAD v4
20	g.3082727G>C	CA408061291	AVP	c.398C>G (p.Thr133Arg)	gnomAD v4
20	g.3082727G=	CA2346405265	AVP	c.398C= (p.Thr133=)
20	g.3082727G>T	CA408061290	AVP	c.398C>A (p.Thr133Lys)	dbSNP gnomAD v4
20	g.3082728T>A	CA408061292	AVP	c.397A>T (p.Thr133Ser)	gnomAD v4
20	g.3082728T>C	CA408061293	AVP	c.397A>G (p.Thr133Ala)	gnomAD v4
20	g.3082728T>G	CA408061294	AVP	c.397A>C (p.Thr133Pro)
20	g.3082729G>A	CA509404186	AVP	c.396C>T (p.Ala132=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082729G>C	CA509404185	AVP	c.396C>G (p.Ala132=)
20	g.3082729G=	CA2346405266	AVP	c.396C= (p.Ala132=)
20	g.3082729G>T	CA509404184	AVP	c.396C>A (p.Ala132=)	gnomAD v4
20	g.3082730G>A	CA408061295	AVP	c.395C>T (p.Ala132Val)	dbSNP gnomAD v3 gnomAD v4
20	g.3082730G>C	CA408061296	AVP	c.395C>G (p.Ala132Gly)	gnomAD v4
20	g.3082730G=	CA2346405267	AVP	c.395C= (p.Ala132=)
20	g.3082730G>T	CA408061297	AVP	c.395C>A (p.Ala132Asp)	gnomAD v4
20	g.3082731C>A	CA408061298	AVP	c.394G>T (p.Ala132Ser)	gnomAD v4
20	g.3082731C>G	CA408061299	AVP	c.394G>C (p.Ala132Pro)	gnomAD v4
20	g.3082731C>T	CA408061300	AVP	c.394G>A (p.Ala132Thr)	gnomAD v4
20	g.3082732G>A	CA509404200	AVP	c.393C>T (p.Asn131=)	gnomAD v4
20	g.3082732G>C	CA408061301	AVP	c.393C>G (p.Asn131Lys)	gnomAD v4
20	g.3082732G>T	CA408061302	AVP	c.393C>A (p.Asn131Lys)	gnomAD v4
20	g.3082733T>A	CA408061305	AVP	c.392A>T (p.Asn131Ile)
20	g.3082733T>C	CA408061304	AVP	c.392A>G (p.Asn131Ser)	gnomAD v4
20	g.3082733T>G	CA408061303	AVP	c.392A>C (p.Asn131Thr)
20	g.3082734T>A	CA408061306	AVP	c.391A>T (p.Asn131Tyr)
20	g.3082734T>C	CA408061307	AVP	c.391A>G (p.Asn131Asp)	gnomAD v4
20	g.3082734T>G	CA408061308	AVP	c.391A>C (p.Asn131His)
20	g.3082735G>A	CA509404215	AVP	c.390C>T (p.Ser130=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082735G>C	CA408061309	AVP	c.390C>G (p.Ser130Arg)
20	g.3082735G=	CA2346405269	AVP	c.390C= (p.Ser130=)
20	g.3082735G>T	CA408061310	AVP	c.390C>A (p.Ser130Arg)	gnomAD v4
20	g.3082736C>A	CA408061311	AVP	c.389G>T (p.Ser130Ile)	gnomAD v4
20	g.3082736C>G	CA408061312	AVP	c.389G>C (p.Ser130Thr)
20	g.3082736C>T	CA408061313	AVP	c.389G>A (p.Ser130Asn)	gnomAD v4
20	g.3082737T>A	CA408061314	AVP	c.388A>T (p.Ser130Cys)	gnomAD v4
20	g.3082737T>C	CA408061315	AVP	c.388A>G (p.Ser130Gly)	gnomAD v4
20	g.3082737T>G	CA408061316	AVP	c.388A>C (p.Ser130Arg)
20	g.3082738C>A	CA509404226	AVP	c.387G>T (p.Arg129=)	gnomAD v4
20	g.3082738C>G	CA509404227	AVP	c.387G>C (p.Arg129=)
20	g.3082738C>T	CA509404230	AVP	c.387G>A (p.Arg129=)	gnomAD v4
20	g.3082738_3082739del	CA2651674359	AVP	c.386_387del (p.Arg129GlnfsTer?)	gnomAD v4
20	g.3082739del	CA2651674360	AVP	c.387del (p.Ser130AlafsTer?)	gnomAD v4
20	g.3082739C>A	CA408061319	AVP	c.386G>T (p.Arg129Leu)	gnomAD v4
20	g.3082739C=	CA2346405271	AVP	c.386G= (p.Arg129=)
20	g.3082739C>G	CA408061318	AVP	c.386G>C (p.Arg129Pro)	dbSNP gnomAD v4
20	g.3082739C>T	CA408061317	AVP	c.386G>A (p.Arg129Gln)	dbSNP gnomAD v3 gnomAD v4
20	g.3082742_3082777del	CA2651674361	AVP	c.351_386del (p.Glu118_Arg129del)	gnomAD v4
20	g.3082740G>A	CA408061320	AVP	c.385C>T (p.Arg129Trp)	gnomAD v4
20	g.3082740G>C	CA408061321	AVP	c.385C>G (p.Arg129Gly)	gnomAD v4
20	g.3082740G=	CA2346405275	AVP	c.385C= (p.Arg129=)
20	g.3082740G>T	CA509404236	AVP	c.385C>A (p.Arg129=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082741G>A	CA509404240	AVP	c.384C>T (p.Asp128=)	gnomAD v4
20	g.3082741G>C	CA408061322	AVP	c.384C>G (p.Asp128Glu)	gnomAD v4
20	g.3082741G>T	CA408061323	AVP	c.384C>A (p.Asp128Glu)	gnomAD v4
20	g.3082742T>A	CA408061324	AVP	c.383A>T (p.Asp128Val)	gnomAD v4
20	g.3082742T>C	CA408061325	AVP	c.383A>G (p.Asp128Gly)	gnomAD v4
20	g.3082742T>G	CA408061326	AVP	c.383A>C (p.Asp128Ala)
20	g.3082742T=	CA2346405277	AVP	c.383A= (p.Asp128=)
20	g.3082743C>A	CA408061327	AVP	c.382G>T (p.Asp128Tyr)	gnomAD v4
20	g.3082743C>G	CA408061328	AVP	c.382G>C (p.Asp128His)	gnomAD v4
20	g.3082743C>T	CA408061329	AVP	c.382G>A (p.Asp128Asn)	gnomAD v4
20	g.3082746_3082751dup	CA9739421	AVP	c.377_382dup (p.Ser127_Asp128insAlaSer)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3082744G>A	CA509404248	AVP	c.381C>T (p.Ser127=)	gnomAD v4
20	g.3082744G>C	CA408061330	AVP	c.381C>G (p.Ser127Arg)
20	g.3082744G>T	CA408061331	AVP	c.381C>A (p.Ser127Arg)	gnomAD v4
20	g.3082745C>A	CA408061334	AVP	c.380G>T (p.Ser127Ile)	gnomAD v4
20	g.3082745C>G	CA408061332	AVP	c.380G>C (p.Ser127Thr)
20	g.3082745C>T	CA408061333	AVP	c.380G>A (p.Ser127Asn)	gnomAD v4
20	g.3082746T>A	CA408061335	AVP	c.379A>T (p.Ser127Cys)
20	g.3082746T>C	CA408061336	AVP	c.379A>G (p.Ser127Gly)	ClinVar gnomAD v4
20	g.3082746T>G	CA408061337	AVP	c.379A>C (p.Ser127Arg)
20	g.3082746_3082752delinsTGGCGCG	CA2346405279	AVP	c.373_379delinsCGCGCCA (p.Arg125=)
20	g.3082747G>A	CA509404254	AVP	c.378C>T (p.Ala126=)	gnomAD v4
20	g.3082747G>C	CA509404257	AVP	c.378C>G (p.Ala126=)	gnomAD v4
20	g.3082747G>T	CA509404259	AVP	c.378C>A (p.Ala126=)	gnomAD v4
20	g.3082754_3082759dup	CA2651674362	AVP	c.373_378dup (p.Ala126_Ser127insArgAla)	gnomAD v4
20	g.3082754_3082759del	CA2346405280	AVP	c.373_378del (p.Arg125_Ala126del)	dbSNP gnomAD v4
20	g.3082748G>A	CA408061338	AVP	c.377C>T (p.Ala126Val)	gnomAD v4
20	g.3082748G>C	CA408061339	AVP	c.377C>G (p.Ala126Gly)
20	g.3082748G>T	CA408061340	AVP	c.377C>A (p.Ala126Asp)	gnomAD v4

Number of alleles fetched