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.219418756C>A	CA350684967	DES	c.294C>A (p.Asn98Lys)
2	g.219418756C=	CA1329209976	DES	c.294C= (p.Asn98=)
2	g.219418756C>G	CA350684971	DES	c.294C>G (p.Asn98Lys)
2	g.219418756C>T	CA431427458	DES	c.294C>T (p.Asn98=)	ClinVar dbSNP gnomAD v4
2	g.219418757C>A	CA350684976	DES	c.295C>A (p.Gln99Lys)	gnomAD v4
2	g.219418757C=	CA1329209977	DES	c.295C= (p.Gln99=)
2	g.219418757C>G	CA308304	DES	c.295C>G (p.Gln99Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418757C>T	CA350684982	DES	c.295C>T (p.Gln99Ter)
2	g.219418758A>C	CA350684988	DES	c.296A>C (p.Gln99Pro)
2	g.219418758A>G	CA350684991	DES	c.296A>G (p.Gln99Arg)
2	g.219418758A>T	CA350685000	DES	c.296A>T (p.Gln99Leu)
2	g.219418759G>A	CA431427461	DES	c.297G>A (p.Gln99=)
2	g.219418759G>C	CA350685006	DES	c.297G>C (p.Gln99His)
2	g.219418759G>T	CA350685009	DES	c.297G>T (p.Gln99His)	gnomAD v4
2	g.219418760G>A	CA350685014	DES	c.298G>A (p.Glu100Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418760G>C	CA350685017	DES	c.298G>C (p.Glu100Gln)	gnomAD v4
2	g.219418760G=	CA1329209978	DES	c.298G= (p.Glu100=)
2	g.219418760G>T	CA350685013	DES	c.298G>T (p.Glu100Ter)
2	g.219418761A=	CA1329209979	DES	c.299A= (p.Glu100=)
2	g.219418761A>C	CA308307	DES	c.299A>C (p.Glu100Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418761A>G	CA350685021	DES	c.299A>G (p.Glu100Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418761A>T	CA350685024	DES	c.299A>T (p.Glu100Val)
2	g.219418762G>A	CA431427465	DES	c.300G>A (p.Glu100=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418762G>C	CA350685030	DES	c.300G>C (p.Glu100Asp)
2	g.219418762G=	CA1329209980	DES	c.300G= (p.Glu100=)
2	g.219418762G>T	CA350685036	DES	c.300G>T (p.Glu100Asp)	gnomAD v4
2	g.219418762dup	CA2580065780	DES	c.300dup (p.Phe101ValfsTer17)	ClinVar
2	g.219418763T>A	CA350685046	DES	c.301T>A (p.Phe101Ile)
2	g.219418763T>C	CA350685050	DES	c.301T>C (p.Phe101Leu)
2	g.219418763T>G	CA350685056	DES	c.301T>G (p.Phe101Val)
2	g.219418764T>A	CA350685063	DES	c.302T>A (p.Phe101Tyr)
2	g.219418764T>C	CA350685069	DES	c.302T>C (p.Phe101Ser)
2	g.219418764T>G	CA350685067	DES	c.302T>G (p.Phe101Cys)
2	g.219418765T>A	CA350685072	DES	c.303T>A (p.Phe101Leu)
2	g.219418765T>C	CA431427467	DES	c.303T>C (p.Phe101=)	ClinVar dbSNP
2	g.219418765T>G	CA350685074	DES	c.303T>G (p.Phe101Leu)
2	g.219418766C>A	CA350685079	DES	c.304C>A (p.Leu102Met)	gnomAD v4
2	g.219418766C>G	CA350685082	DES	c.304C>G (p.Leu102Val)
2	g.219418766C>T	CA431427468	DES	c.304C>T (p.Leu102=)	gnomAD v4
2	g.219418767T>A	CA350685091	DES	c.305T>A (p.Leu102Gln)
2	g.219418767T>C	CA350685096	DES	c.305T>C (p.Leu102Pro)
2	g.219418767T>G	CA350685095	DES	c.305T>G (p.Leu102Arg)
2	g.219418768G>A	CA431427471	DES	c.306G>A (p.Leu102=)	ClinVar dbSNP gnomAD v4
2	g.219418768G>C	CA431427473	DES	c.306G>C (p.Leu102=)
2	g.219418768G>T	CA431427475	DES	c.306G>T (p.Leu102=)	gnomAD v4
2	g.219418769A=	CA1329209981	DES	c.307A= (p.Thr103=)
2	g.219418769A>C	CA350685099	DES	c.307A>C (p.Thr103Pro)
2	g.219418769A>G	CA350685107	DES	c.307A>G (p.Thr103Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.219418769A>T	CA350685111	DES	c.307A>T (p.Thr103Ser)
2	g.219418770C>A	CA350685112	DES	c.308C>A (p.Thr103Asn)
2	g.219418770C>G	CA350685113	DES	c.308C>G (p.Thr103Ser)	gnomAD v4
2	g.219418770C>T	CA350685117	DES	c.308C>T (p.Thr103Ile)	gnomAD v4
2	g.219418771del	CA2499215678	DES	c.309del (p.Thr104ArgfsTer?)	ClinVar dbSNP
2	g.219418771C>A	CA431427476	DES	c.309C>A (p.Thr103=)	gnomAD v4
2	g.219418771C>G	CA431427478	DES	c.309C>G (p.Thr103=)
2	g.219418771C>T	CA431427480	DES	c.309C>T (p.Thr103=)	ClinVar gnomAD v4
2	g.219418772A=	CA1329209982	DES	c.310A= (p.Thr104=)
2	g.219418772A>C	CA350685122	DES	c.310A>C (p.Thr104Pro)
2	g.219418772A>G	CA350685125	DES	c.310A>G (p.Thr104Ala)	ClinVar dbSNP gnomAD v4
2	g.219418772A>T	CA350685128	DES	c.310A>T (p.Thr104Ser)
2	g.219418773C>A	CA350685131	DES	c.311C>A (p.Thr104Lys)	gnomAD v4
2	g.219418773C=	CA1329209983	DES	c.311C= (p.Thr104=)
2	g.219418773C>G	CA350685142	DES	c.311C>G (p.Thr104Arg)	ClinVar dbSNP
2	g.219418773C>T	CA65981069	DES	c.311C>T (p.Thr104Met)	ClinVar dbSNP gnomAD v4
2	g.219418774G>A	CA431427482	DES	c.312G>A (p.Thr104=)	gnomAD v4 COSMIC
2	g.219418774G>C	CA431427483	DES	c.312G>C (p.Thr104=)
2	g.219418774G=	CA1329209984	DES	c.312G= (p.Thr104=)
2	g.219418774G>T	CA431427484	DES	c.312G>T (p.Thr104=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418775C>A	CA350685157	DES	c.313C>A (p.Arg105Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.219418775C=	CA1329209985	DES	c.313C= (p.Arg105=)
2	g.219418775C>G	CA350685153	DES	c.313C>G (p.Arg105Gly)	ClinVar
2	g.219418775C>T	CA308310	DES	c.313C>T (p.Arg105Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418776G>A	CA350685159	DES	c.314G>A (p.Arg105His)	dbSNP gnomAD v3 gnomAD v4
2	g.219418776G>C	CA350685163	DES	c.314G>C (p.Arg105Pro)	ClinVar
2	g.219418776G=	CA1329209986	DES	c.314G= (p.Arg105=)
2	g.219418776G>T	CA350685162	DES	c.314G>T (p.Arg105Leu)	ClinVar dbSNP gnomAD v4
2	g.219418776_219418777delinsCT	CA2580065781	DES	c.314_315delinsCT (p.Arg105Pro)	ClinVar
2	g.219418777C>A	CA431427487	DES	c.315C>A (p.Arg105=)
2	g.219418777C>G	CA431427488	DES	c.315C>G (p.Arg105=)	gnomAD v4
2	g.219418777C>T	CA431427489	DES	c.315C>T (p.Arg105=)	ClinVar gnomAD v4
2	g.219418778A>C	CA350685166	DES	c.316A>C (p.Thr106Pro)
2	g.219418778A>G	CA350685169	DES	c.316A>G (p.Thr106Ala)	COSMIC
2	g.219418778A>T	CA350685176	DES	c.316A>T (p.Thr106Ser)
2	g.219418779C>A	CA350685182	DES	c.317C>A (p.Thr106Asn)	gnomAD v4
2	g.219418779C=	CA1329209987	DES	c.317C= (p.Thr106=)
2	g.219418779C>G	CA350685190	DES	c.317C>G (p.Thr106Ser)	dbSNP gnomAD v2
2	g.219418779C>T	CA350685191	DES	c.317C>T (p.Thr106Ile)	gnomAD v4
2	g.219418780C>A	CA431427495	DES	c.318C>A (p.Thr106=)	gnomAD v4
2	g.219418780C>G	CA431427496	DES	c.318C>G (p.Thr106=)
2	g.219418780C>T	CA431427497	DES	c.318C>T (p.Thr106=)	gnomAD v4
2	g.219418781A>C	CA350685193	DES	c.319A>C (p.Asn107His)
2	g.219418781A>G	CA350685194	DES	c.319A>G (p.Asn107Asp)	ClinVar dbSNP
2	g.219418781A>T	CA350685195	DES	c.319A>T (p.Asn107Tyr)
2	g.219418782A=	CA1329209988	DES	c.320A= (p.Asn107=)
2	g.219418782A>C	CA350685197	DES	c.320A>C (p.Asn107Thr)	ClinVar dbSNP
2	g.219418782A>G	CA350685199	DES	c.320A>G (p.Asn107Ser)
2	g.219418782A>T	CA350685201	DES	c.320A>T (p.Asn107Ile)	gnomAD v4
2	g.219418783C>A	CA350685203	DES	c.321C>A (p.Asn107Lys)	ClinVar
2	g.219418783C=	CA1329209989	DES	c.321C= (p.Asn107=)
2	g.219418783C>G	CA350685204	DES	c.321C>G (p.Asn107Lys)	dbSNP gnomAD v3 gnomAD v4
2	g.219418783C>T	CA431427503	DES	c.321C>T (p.Asn107=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418784G>A	CA217060	DES	c.322G>A (p.Glu108Lys)	ClinVar dbSNP gnomAD v4
2	g.219418784G>C	CA350685210	DES	c.322G>C (p.Glu108Gln)
2	g.219418784G=	CA1329209990	DES	c.322G= (p.Glu108=)
2	g.219418784G>T	CA350685213	DES	c.322G>T (p.Glu108Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219418785A=	CA1329209991	DES	c.323A= (p.Glu108=)
2	g.219418785A>C	CA350685215	DES	c.323A>C (p.Glu108Ala)
2	g.219418785A>G	CA350685218	DES	c.323A>G (p.Glu108Gly)	ClinVar dbSNP
2	g.219418785A>T	CA350685221	DES	c.323A>T (p.Glu108Val)
2	g.219418786G>A	CA180958	DES	c.324G>A (p.Glu108=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418786G>C	CA350685227	DES	c.324G>C (p.Glu108Asp)
2	g.219418786G=	CA1329209992	DES	c.324G= (p.Glu108=)
2	g.219418786G>T	CA350685230	DES	c.324G>T (p.Glu108Asp)	gnomAD v4
2	g.219418787A=	CA1329209993	DES	c.325A= (p.Lys109=)
2	g.219418787A>C	CA350685235	DES	c.325A>C (p.Lys109Gln)
2	g.219418787A>G	CA350685236	DES	c.325A>G (p.Lys109Glu)	ClinVar dbSNP
2	g.219418787A>T	CA350685240	DES	c.325A>T (p.Lys109Ter)
2	g.219418788A=	CA1329209994	DES	c.326A= (p.Lys109=)
2	g.219418788A>C	CA350685243	DES	c.326A>C (p.Lys109Thr)
2	g.219418788A>G	CA350685248	DES	c.326A>G (p.Lys109Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418788A>T	CA350685245	DES	c.326A>T (p.Lys109Met)
2	g.219418789G>A	CA431427507	DES	c.327G>A (p.Lys109=)
2	g.219418789G>C	CA350685254	DES	c.327G>C (p.Lys109Asn)	ClinVar
2	g.219418789G>T	CA350685256	DES	c.327G>T (p.Lys109Asn)	ClinVar dbSNP gnomAD v4
2	g.219418790G>A	CA350685260	DES	c.328G>A (p.Val110Met)	dbSNP gnomAD v3 gnomAD v4
2	g.219418790G>C	CA2125052	DES	c.328G>C (p.Val110Leu)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2	g.219418790G=	CA1329209995	DES	c.328G= (p.Val110=)
2	g.219418790G>T	CA350685264	DES	c.328G>T (p.Val110Leu)
2	g.219418791T>A	CA350685268	DES	c.329T>A (p.Val110Glu)
2	g.219418791T>C	CA350685276	DES	c.329T>C (p.Val110Ala)
2	g.219418791T>G	CA350685279	DES	c.329T>G (p.Val110Gly)
2	g.219418791_219418800delinsTGGAGCTGCA	CA1329209996	DES	c.329_338delinsTGGAGCTGCA (p.Val110=)
2	g.219418792G>A	CA431427511	DES	c.330G>A (p.Val110=)	gnomAD v4
2	g.219418792G>C	CA431427513	DES	c.330G>C (p.Val110=)
2	g.219418792G>T	CA431427514	DES	c.330G>T (p.Val110=)
2	g.219418798_219418806del	CA658821235	DES	c.336_344del (p.Gln113_Leu115del)	ClinVar dbSNP
2	g.219418793G>A	CA350685282	DES	c.331G>A (p.Glu111Lys)	gnomAD v4
2	g.219418793G>C	CA350685289	DES	c.331G>C (p.Glu111Gln)
2	g.219418793G>T	CA350685292	DES	c.331G>T (p.Glu111Ter)	gnomAD v4
2	g.219418794A=	CA1329209997	DES	c.332A= (p.Glu111=)
2	g.219418794A>C	CA350685295	DES	c.332A>C (p.Glu111Ala)
2	g.219418794A>G	CA350685299	DES	c.332A>G (p.Glu111Gly)	ClinVar dbSNP
2	g.219418794A>T	CA350685302	DES	c.332A>T (p.Glu111Val)	gnomAD v4
2	g.219418795G>A	CA431427516	DES	c.333G>A (p.Glu111=)
2	g.219418795G>C	CA350685313	DES	c.333G>C (p.Glu111Asp)
2	g.219418795G>T	CA350685307	DES	c.333G>T (p.Glu111Asp)	gnomAD v4
2	g.219418796C>A	CA350685317	DES	c.334C>A (p.Leu112Met)	gnomAD v4
2	g.219418796C>G	CA350685320	DES	c.334C>G (p.Leu112Val)
2	g.219418796C>T	CA431427520	DES	c.334C>T (p.Leu112=)
2	g.219418797T>A	CA350685325	DES	c.335T>A (p.Leu112Gln)
2	g.219418797T>C	CA350685328	DES	c.335T>C (p.Leu112Pro)
2	g.219418797T>G	CA350685330	DES	c.335T>G (p.Leu112Arg)	ClinVar dbSNP
2	g.219418797T=	CA1329209998	DES	c.335T= (p.Leu112=)
2	g.219418798G>A	CA431427521	DES	c.336G>A (p.Leu112=)	gnomAD v4
2	g.219418798G>C	CA431427522	DES	c.336G>C (p.Leu112=)
2	g.219418798G>T	CA431427523	DES	c.336G>T (p.Leu112=)	gnomAD v4
2	g.219418799C>A	CA350685333	DES	c.337C>A (p.Gln113Lys)	gnomAD v4
2	g.219418799C>G	CA350685336	DES	c.337C>G (p.Gln113Glu)
2	g.219418799C>T	CA350685338	DES	c.337C>T (p.Gln113Ter)	gnomAD v4
2	g.219418799_219418801delinsCAG	CA1329210000	DES	c.337_339delinsCAG (p.Gln113=)
2	g.219418799_219418802delinsCAGG	CA1329209999	DES	c.337_340delinsCAGG (p.Gln113=)
2	g.219418800A>C	CA350685342	DES	c.338A>C (p.Gln113Pro)
2	g.219418800A>G	CA350685345	DES	c.338A>G (p.Gln113Arg)
2	g.219418800A>T	CA350685346	DES	c.338A>T (p.Gln113Leu)
2	g.219418800_219418801del	CA217063	DES	c.338_339del (p.Gln113ArgfsTer4)	ClinVar dbSNP
2	g.219418802_219418804del	CA217064	DES	c.340_342del (p.Glu114del)	ClinVar dbSNP
2	g.219418801G>A	CA431427525	DES	c.339G>A (p.Gln113=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418801G>C	CA350685357	DES	c.339G>C (p.Gln113His)
2	g.219418801G=	CA1329210001	DES	c.339G= (p.Gln113=)
2	g.219418801G>T	CA350685354	DES	c.339G>T (p.Gln113His)
2	g.219418802G>A	CA350685366	DES	c.340G>A (p.Glu114Lys)
2	g.219418802G>C	CA350685363	DES	c.340G>C (p.Glu114Gln)
2	g.219418802G>T	CA350685364	DES	c.340G>T (p.Glu114Ter)	gnomAD v4
2	g.219418803A>C	CA350685368	DES	c.341A>C (p.Glu114Ala)
2	g.219418803A>G	CA350685372	DES	c.341A>G (p.Glu114Gly)	ClinVar dbSNP
2	g.219418803A>T	CA350685375	DES	c.341A>T (p.Glu114Val)
2	g.219418804G>A	CA431427529	DES	c.342G>A (p.Glu114=)	gnomAD v4
2	g.219418804G>C	CA350685378	DES	c.342G>C (p.Glu114Asp)
2	g.219418804G>T	CA350685381	DES	c.342G>T (p.Glu114Asp)	gnomAD v4
2	g.219418805C>A	CA350685384	DES	c.343C>A (p.Leu115Ile)	ClinVar gnomAD v4
2	g.219418805C=	CA1329210002	DES	c.343C= (p.Leu115=)
2	g.219418805C>G	CA350685385	DES	c.343C>G (p.Leu115Val)
2	g.219418805C>T	CA350685389	DES	c.343C>T (p.Leu115Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418806T>A	CA350685391	DES	c.344T>A (p.Leu115His)
2	g.219418806T>C	CA350685393	DES	c.344T>C (p.Leu115Pro)	ClinVar dbSNP gnomAD v4
2	g.219418806T>G	CA350685396	DES	c.344T>G (p.Leu115Arg)
2	g.219418807C>A	CA2125053	DES	c.345C>A (p.Leu115=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418807C=	CA1329210003	DES	c.345C= (p.Leu115=)
2	g.219418807C>G	CA431427533	DES	c.345C>G (p.Leu115=)	ClinVar dbSNP
2	g.219418807C>T	CA431427535	DES	c.345C>T (p.Leu115=)
2	g.219418807dup	CA2573051861	DES	c.345dup (p.Asn116GlnfsTer2)	dbSNP
2	g.219418808A>C	CA350685403	DES	c.346A>C (p.Asn116His)
2	g.219418808A>G	CA350685405	DES	c.346A>G (p.Asn116Asp)
2	g.219418808A>T	CA350685407	DES	c.346A>T (p.Asn116Tyr)
2	g.219418808_219418812delinsTAGT	CA2580065782	DES	c.346_350delinsTAGT (p.Asn116Ter)	ClinVar
2	g.219418809A=	CA1329210004	DES	c.347A= (p.Asn116=)
2	g.219418809A>C	CA350685412	DES	c.347A>C (p.Asn116Thr)
2	g.219418809A>G	CA217067	DES	c.347A>G (p.Asn116Ser)	ClinVar dbSNP
2	g.219418809A>T	CA10576588	DES	c.347A>T (p.Asn116Ile)	ClinVar dbSNP
2	g.219418810T>A	CA350685418	DES	c.348T>A (p.Asn116Lys)	ClinVar dbSNP gnomAD v4
2	g.219418810T>C	CA2125054	DES	c.348T>C (p.Asn116=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418810T>G	CA350685429	DES	c.348T>G (p.Asn116Lys)
2	g.219418810T=	CA1329210005	DES	c.348T= (p.Asn116=)
2	g.219418811G>A	CA350685432	DES	c.349G>A (p.Asp117Asn)	gnomAD v4
2	g.219418811G>C	CA350685435	DES	c.349G>C (p.Asp117His)	ClinVar dbSNP
2	g.219418811G=	CA1329210006	DES	c.349G= (p.Asp117=)
2	g.219418811G>T	CA350685439	DES	c.349G>T (p.Asp117Tyr)	gnomAD v4
2	g.219418812A>C	CA350685451	DES	c.350A>C (p.Asp117Ala)	gnomAD v4
2	g.219418812A>G	CA350685455	DES	c.350A>G (p.Asp117Gly)	gnomAD v4
2	g.219418812A>T	CA350685453	DES	c.350A>T (p.Asp117Val)
2	g.219418813C>A	CA350685457	DES	c.351C>A (p.Asp117Glu)
2	g.219418813C=	CA1329210007	DES	c.351C= (p.Asp117=)
2	g.219418813C>G	CA350685459	DES	c.351C>G (p.Asp117Glu)
2	g.219418813C>T	CA431427543	DES	c.351C>T (p.Asp117=)	ClinVar dbSNP gnomAD v4
2	g.219418814C>A	CA350685460	DES	c.352C>A (p.Arg118Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418814C=	CA1329210008	DES	c.352C= (p.Arg118=)
2	g.219418814C>G	CA350685462	DES	c.352C>G (p.Arg118Gly)
2	g.219418814C>T	CA350685461	DES	c.352C>T (p.Arg118Cys)	ClinVar dbSNP
2	g.219418815G>A	CA2125055	DES	c.353G>A (p.Arg118His)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418815G>C	CA350685464	DES	c.353G>C (p.Arg118Pro)
2	g.219418815G=	CA1329210009	DES	c.353G= (p.Arg118=)
2	g.219418815G>T	CA65981149	DES	c.353G>T (p.Arg118Leu)	dbSNP gnomAD v4
2	g.219418816C>A	CA431427545	DES	c.354C>A (p.Arg118=)	gnomAD v4
2	g.219418816C=	CA1329210010	DES	c.354C= (p.Arg118=)
2	g.219418816C>G	CA431427546	DES	c.354C>G (p.Arg118=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418816C>T	CA431427547	DES	c.354C>T (p.Arg118=)	gnomAD v4
2	g.219418817T>A	CA350685466	DES	c.355T>A (p.Phe119Ile)
2	g.219418817T>C	CA350685472	DES	c.355T>C (p.Phe119Leu)
2	g.219418817T>G	CA350685468	DES	c.355T>G (p.Phe119Val)
2	g.219418818T>A	CA350685476	DES	c.356T>A (p.Phe119Tyr)
2	g.219418818T>C	CA350685483	DES	c.356T>C (p.Phe119Ser)
2	g.219418818T>G	CA350685478	DES	c.356T>G (p.Phe119Cys)
2	g.219418819C>A	CA350685486	DES	c.357C>A (p.Phe119Leu)	gnomAD v4
2	g.219418819C=	CA1329210011	DES	c.357C= (p.Phe119=)
2	g.219418819C>G	CA350685489	DES	c.357C>G (p.Phe119Leu)
2	g.219418819C>T	CA431427551	DES	c.357C>T (p.Phe119=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.219418820G>A	CA350685493	DES	c.358G>A (p.Ala120Thr)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.219418820G>C	CA308328	DES	c.358G>C (p.Ala120Pro)	ClinVar dbSNP
2	g.219418820G=	CA1329210012	DES	c.358G= (p.Ala120=)
2	g.219418820G>T	CA350685497	DES	c.358G>T (p.Ala120Ser)	gnomAD v4
2	g.219418821C>A	CA350685499	DES	c.359C>A (p.Ala120Asp)	ClinVar dbSNP
2	g.219418821C=	CA1329210013	DES	c.359C= (p.Ala120=)
2	g.219418821C>G	CA350685502	DES	c.359C>G (p.Ala120Gly)	ClinVar
2	g.219418821C>T	CA350685505	DES	c.359C>T (p.Ala120Val)
2	g.219418822C>A	CA431427556	DES	c.360C>A (p.Ala120=)	gnomAD v4
2	g.219418822C=	CA1329210014	DES	c.360C= (p.Ala120=)
2	g.219418822C>G	CA431427558	DES	c.360C>G (p.Ala120=)
2	g.219418822C>T	CA431427557	DES	c.360C>T (p.Ala120=)	ClinVar dbSNP gnomAD v4
2	g.219418823A=	CA1329210015	DES	c.361A= (p.Asn121=)
2	g.219418823A>C	CA350685511	DES	c.361A>C (p.Asn121His)	ClinVar dbSNP
2	g.219418823A>G	CA350685513	DES	c.361A>G (p.Asn121Asp)	dbSNP
2	g.219418823A>T	CA350685516	DES	c.361A>T (p.Asn121Tyr)
2	g.219418824A=	CA1329210016	DES	c.362A= (p.Asn121=)
2	g.219418824A>C	CA350685519	DES	c.362A>C (p.Asn121Thr)
2	g.219418824A>G	CA350685524	DES	c.362A>G (p.Asn121Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.219418824A>T	CA350685526	DES	c.362A>T (p.Asn121Ile)	gnomAD v4
2	g.219418825C>A	CA350685529	DES	c.363C>A (p.Asn121Lys)	gnomAD v4
2	g.219418825C=	CA1329210017	DES	c.363C= (p.Asn121=)
2	g.219418825C>G	CA2125056	DES	c.363C>G (p.Asn121Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418825C>T	CA431427560	DES	c.363C>T (p.Asn121=)	gnomAD v4
2	g.219418826T>A	CA350685541	DES	c.364T>A (p.Tyr122Asn)
2	g.219418826T>C	CA350685538	DES	c.364T>C (p.Tyr122His)	gnomAD v4
2	g.219418826T>G	CA308313	DES	c.364T>G (p.Tyr122Asp)	ClinVar dbSNP
2	g.219418826T=	CA1329210018	DES	c.364T= (p.Tyr122=)
2	g.219418827A=	CA1329210019	DES	c.365A= (p.Tyr122=)
2	g.219418827A>C	CA350685546	DES	c.365A>C (p.Tyr122Ser)
2	g.219418827A>G	CA350685550	DES	c.365A>G (p.Tyr122Cys)	ClinVar dbSNP
2	g.219418827A>T	CA350685554	DES	c.365A>T (p.Tyr122Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418828del	CA2586971377	DES	c.366del (p.Tyr122Ter)
2	g.219418828C>A	CA350685558	DES	c.366C>A (p.Tyr122Ter)	gnomAD v4
2	g.219418828C>G	CA350685561	DES	c.366C>G (p.Tyr122Ter)
2	g.219418828C>T	CA431427567	DES	c.366C>T (p.Tyr122=)
2	g.219418829A=	CA1329210020	DES	c.367A= (p.Ile123=)
2	g.219418829A>C	CA350685567	DES	c.367A>C (p.Ile123Leu)
2	g.219418829A>G	CA2125057	DES	c.367A>G (p.Ile123Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418829A>T	CA350685586	DES	c.367A>T (p.Ile123Phe)	gnomAD v4
2	g.219418830T>A	CA350685594	DES	c.368T>A (p.Ile123Asn)	ClinVar dbSNP
2	g.219418830T>C	CA350685598	DES	c.368T>C (p.Ile123Thr)	dbSNP
2	g.219418830T>G	CA350685602	DES	c.368T>G (p.Ile123Ser)	ClinVar
2	g.219418830T=	CA1329210022	DES	c.368T= (p.Ile123=)
2	g.219418830_219418831delinsTC	CA1329210021	DES	c.368_369delinsTC (p.Ile123=)
2	g.219418831del	CA2125058	DES	c.369del (p.Ile123MetfsTer18)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418831C>A	CA431427571	DES	c.369C>A (p.Ile123=)	gnomAD v4
2	g.219418831C=	CA1329210023	DES	c.369C= (p.Ile123=)
2	g.219418831C>G	CA65981192	DES	c.369C>G (p.Ile123Met)	dbSNP gnomAD v4
2	g.219418831C>T	CA2125059	DES	c.369C>T (p.Ile123=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418832G>A	CA350685625	DES	c.370G>A (p.Glu124Lys)	gnomAD v4
2	g.219418832G>C	CA65981197	DES	c.370G>C (p.Glu124Gln)	dbSNP
2	g.219418832G=	CA1329210024	DES	c.370G= (p.Glu124=)
2	g.219418832G>T	CA350685632	DES	c.370G>T (p.Glu124Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.219418833A=	CA1329210025	DES	c.371A= (p.Glu124=)
2	g.219418833A>C	CA350685637	DES	c.371A>C (p.Glu124Ala)	ClinVar dbSNP
2	g.219418833A>G	CA2125060	DES	c.371A>G (p.Glu124Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418833A>T	CA350685644	DES	c.371A>T (p.Glu124Val)
2	g.219418834G>A	CA133844	DES	c.372G>A (p.Glu124=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418834G>C	CA350685649	DES	c.372G>C (p.Glu124Asp)
2	g.219418834G=	CA1329210026	DES	c.372G= (p.Glu124=)
2	g.219418834G>T	CA350685651	DES	c.372G>T (p.Glu124Asp)	gnomAD v4
2	g.219418834_219418835delinsGA	CA1329210027	DES	c.372_373delinsGA (p.Glu124=)
2	g.219418835A=	CA1329210028	DES	c.373A= (p.Lys125=)
2	g.219418835A>C	CA350685655	DES	c.373A>C (p.Lys125Gln)
2	g.219418835A>G	CA350685659	DES	c.373A>G (p.Lys125Glu)
2	g.219418835A>T	CA10604977	DES	c.373A>T (p.Lys125Ter)	ClinVar dbSNP gnomAD v4
2	g.219418836del	CA539843106	DES	c.374del (p.Lys125ArgfsTer16)	dbSNP gnomAD v2 gnomAD v4
2	g.219418836A>C	CA350685673	DES	c.374A>C (p.Lys125Thr)
2	g.219418836A>G	CA350685668	DES	c.374A>G (p.Lys125Arg)	gnomAD v4
2	g.219418836A>T	CA350685670	DES	c.374A>T (p.Lys125Met)
2	g.219418837G>A	CA431427582	DES	c.375G>A (p.Lys125=)
2	g.219418837G>C	CA350685678	DES	c.375G>C (p.Lys125Asn)	gnomAD v4
2	g.219418837G>T	CA350685680	DES	c.375G>T (p.Lys125Asn)	gnomAD v4
2	g.219418838G>A	CA350685685	DES	c.376G>A (p.Val126Met)	ClinVar dbSNP gnomAD v4
2	g.219418838G>C	CA350685689	DES	c.376G>C (p.Val126Leu)
2	g.219418838G=	CA1329210029	DES	c.376G= (p.Val126=)
2	g.219418838G>T	CA10576589	DES	c.376G>T (p.Val126Leu)	ClinVar dbSNP
2	g.219418839T>A	CA2125061	DES	c.377T>A (p.Val126Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418839T>C	CA350685699	DES	c.377T>C (p.Val126Ala)
2	g.219418839T>G	CA350685703	DES	c.377T>G (p.Val126Gly)
2	g.219418839T=	CA1329210030	DES	c.377T= (p.Val126=)
2	g.219418840G>A	CA431427588	DES	c.378G>A (p.Val126=)
2	g.219418840G>C	CA431427589	DES	c.378G>C (p.Val126=)
2	g.219418840G>T	CA431427590	DES	c.378G>T (p.Val126=)	gnomAD v4
2	g.219418841C>A	CA350685710	DES	c.379C>A (p.Arg127Ser)	gnomAD v4
2	g.219418841C=	CA1329210031	DES	c.379C= (p.Arg127=)
2	g.219418841C>G	CA350685715	DES	c.379C>G (p.Arg127Gly)	ClinVar dbSNP
2	g.219418841C>T	CA65981208	DES	c.379C>T (p.Arg127Cys)	ClinVar dbSNP gnomAD v4
2	g.219418842G>A	CA350685731	DES	c.380G>A (p.Arg127His)	ClinVar gnomAD v4
2	g.219418842G>C	CA133847	DES	c.380G>C (p.Arg127Pro)	ClinVar dbSNP
2	g.219418842G=	CA1329210032	DES	c.380G= (p.Arg127=)
2	g.219418842G>T	CA350685723	DES	c.380G>T (p.Arg127Leu)	gnomAD v4
2	g.219418843C>A	CA431427599	DES	c.381C>A (p.Arg127=)	gnomAD v4
2	g.219418843C>G	CA431427600	DES	c.381C>G (p.Arg127=)
2	g.219418843C>T	CA431427601	DES	c.381C>T (p.Arg127=)	gnomAD v4
2	g.219418844T>A	CA350685741	DES	c.382T>A (p.Phe128Ile)
2	g.219418844T>C	CA350685745	DES	c.382T>C (p.Phe128Leu)	gnomAD v4
2	g.219418844T>G	CA350685754	DES	c.382T>G (p.Phe128Val)
2	g.219418845T>A	CA350685758	DES	c.383T>A (p.Phe128Tyr)
2	g.219418845T>C	CA350685760	DES	c.383T>C (p.Phe128Ser)	gnomAD v4
2	g.219418845T>G	CA350685763	DES	c.383T>G (p.Phe128Cys)
2	g.219418846C>A	CA350685766	DES	c.384C>A (p.Phe128Leu)
2	g.219418846C>G	CA350685769	DES	c.384C>G (p.Phe128Leu)
2	g.219418846C>T	CA431427608	DES	c.384C>T (p.Phe128=)	gnomAD v4
2	g.219418847C>A	CA350685772	DES	c.385C>A (p.Leu129Met)	dbSNP gnomAD v2 gnomAD v4
2	g.219418847C=	CA1329210033	DES	c.385C= (p.Leu129=)
2	g.219418847C>G	CA350685773	DES	c.385C>G (p.Leu129Val)
2	g.219418847C>T	CA431427617	DES	c.385C>T (p.Leu129=)
2	g.219418848T>A	CA350685778	DES	c.386T>A (p.Leu129Gln)
2	g.219418848T>C	CA350685781	DES	c.386T>C (p.Leu129Pro)	gnomAD v4
2	g.219418848T>G	CA350685782	DES	c.386T>G (p.Leu129Arg)	ClinVar dbSNP
2	g.219418848T=	CA1329210034	DES	c.386T= (p.Leu129=)
2	g.219418849G>A	CA431427619	DES	c.387G>A (p.Leu129=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418849G>C	CA431427621	DES	c.387G>C (p.Leu129=)	gnomAD v4
2	g.219418849G=	CA1329210035	DES	c.387G= (p.Leu129=)
2	g.219418849G>T	CA431427623	DES	c.387G>T (p.Leu129=)
2	g.219418850G>A	CA350685786	DES	c.388G>A (p.Glu130Lys)
2	g.219418850G>C	CA350685784	DES	c.388G>C (p.Glu130Gln)
2	g.219418850G>T	CA350685783	DES	c.388G>T (p.Glu130Ter)	gnomAD v4
2	g.219418851A>C	CA350685788	DES	c.389A>C (p.Glu130Ala)
2	g.219418851A>G	CA350685789	DES	c.389A>G (p.Glu130Gly)	gnomAD v4
2	g.219418851A>T	CA350685790	DES	c.389A>T (p.Glu130Val)
2	g.219418852G>A	CA431427627	DES	c.390G>A (p.Glu130=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418852G>C	CA350685792	DES	c.390G>C (p.Glu130Asp)
2	g.219418852G=	CA1329210036	DES	c.390G= (p.Glu130=)
2	g.219418852G>T	CA350685795	DES	c.390G>T (p.Glu130Asp)	gnomAD v4
2	g.219418853C>A	CA2125062	DES	c.391C>A (p.Gln131Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418853C=	CA1329210037	DES	c.391C= (p.Gln131=)
2	g.219418853C>G	CA350685800	DES	c.391C>G (p.Gln131Glu)	gnomAD v4
2	g.219418853C>T	CA350685804	DES	c.391C>T (p.Gln131Ter)
2	g.219418853_219418854delinsCA	CA1329210038	DES	c.391_392delinsCA (p.Gln131=)
2	g.219418854del	CA1329210039	DES	c.392del (p.Gln131ArgfsTer10)	dbSNP
2	g.219418854A>C	CA350685808	DES	c.392A>C (p.Gln131Pro)
2	g.219418854A>G	CA350685811	DES	c.392A>G (p.Gln131Arg)
2	g.219418854A>T	CA350685815	DES	c.392A>T (p.Gln131Leu)
2	g.219418855G>A	CA431427638	DES	c.393G>A (p.Gln131=)	gnomAD v4
2	g.219418855G>C	CA350685819	DES	c.393G>C (p.Gln131His)	gnomAD v4
2	g.219418855G>T	CA350685820	DES	c.393G>T (p.Gln131His)	gnomAD v4
2	g.219418856C>A	CA350685823	DES	c.394C>A (p.Gln132Lys)	gnomAD v4
2	g.219418856C=	CA1329210040	DES	c.394C= (p.Gln132=)
2	g.219418856C>G	CA350685826	DES	c.394C>G (p.Gln132Glu)
2	g.219418856C>T	CA16610670	DES	c.394C>T (p.Gln132Ter)	ClinVar dbSNP

Number of alleles fetched