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.219418719G>A	CA350684560	DES	c.257G>A (p.Gly86Asp)	gnomAD v4
2	g.219418719G>C	CA350684566	DES	c.257G>C (p.Gly86Ala)
2	g.219418719G>T	CA350684563	DES	c.257G>T (p.Gly86Val)
2	g.219418720C>A	CA431427888	DES	c.258C>A (p.Gly86=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418720C=	CA1329209953	DES	c.258C= (p.Gly86=)
2	g.219418720C>G	CA16604126	DES	c.258C>G (p.Gly86=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418720C>T	CA431427889	DES	c.258C>T (p.Gly86=)	ClinVar dbSNP gnomAD v4
2	g.219418721G>A	CA350684571	DES	c.259G>A (p.Glu87Lys)	gnomAD v4 COSMIC
2	g.219418721G>C	CA350684574	DES	c.259G>C (p.Glu87Gln)
2	g.219418721G=	CA1329209954	DES	c.259G= (p.Glu87=)
2	g.219418721G>T	CA2125047	DES	c.259G>T (p.Glu87Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418721_219418722insTAGG	CA2663249702	DES	c.259_260insTAGG (p.Glu87ValfsTer?)	gnomAD v4
2	g.219418722A>C	CA350684592	DES	c.260A>C (p.Glu87Ala)
2	g.219418722A>G	CA350684600	DES	c.260A>G (p.Glu87Gly)	gnomAD v4
2	g.219418722A>T	CA350684604	DES	c.260A>T (p.Glu87Val)
2	g.219418723G>A	CA2125048	DES	c.261G>A (p.Glu87=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418723G>C	CA350684610	DES	c.261G>C (p.Glu87Asp)
2	g.219418723G=	CA1329209955	DES	c.261G= (p.Glu87=)
2	g.219418723G>T	CA350684616	DES	c.261G>T (p.Glu87Asp)	ClinVar gnomAD v4
2	g.219418724C>A	CA350684622	DES	c.262C>A (p.Leu88Met)	gnomAD v4
2	g.219418724C>G	CA350684629	DES	c.262C>G (p.Leu88Val)
2	g.219418724C>T	CA431427896	DES	c.262C>T (p.Leu88=)
2	g.219418724_219418725delinsAG	CA645372707	DES	c.262_263delinsAG (p.Leu88Arg)	ClinVar
2	g.219418725T>A	CA350684647	DES	c.263T>A (p.Leu88Gln)
2	g.219418725T>C	CA2125049	DES	c.263T>C (p.Leu88Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418725T>G	CA350684632	DES	c.263T>G (p.Leu88Arg)	gnomAD v4
2	g.219418725T=	CA1329209956	DES	c.263T= (p.Leu88=)
2	g.219418726G>A	CA431427900	DES	c.264G>A (p.Leu88=)
2	g.219418726G>C	CA431427899	DES	c.264G>C (p.Leu88=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418726G=	CA1329209957	DES	c.264G= (p.Leu88=)
2	g.219418726G>T	CA431427898	DES	c.264G>T (p.Leu88=)	gnomAD v4
2	g.219418727C>A	CA350684650	DES	c.265C>A (p.Leu89Met)	gnomAD v4
2	g.219418727C=	CA1329209958	DES	c.265C= (p.Leu89=)
2	g.219418727C>G	CA350684655	DES	c.265C>G (p.Leu89Val)
2	g.219418727C>T	CA431427904	DES	c.265C>T (p.Leu89=)	dbSNP
2	g.219418728T>A	CA350684671	DES	c.266T>A (p.Leu89Gln)	gnomAD v4 COSMIC
2	g.219418728T>C	CA350684678	DES	c.266T>C (p.Leu89Pro)	dbSNP gnomAD v2 gnomAD v4
2	g.219418728T>G	CA350684683	DES	c.266T>G (p.Leu89Arg)
2	g.219418728T=	CA1329209959	DES	c.266T= (p.Leu89=)
2	g.219418729G>A	CA431427905	DES	c.267G>A (p.Leu89=)
2	g.219418729G>C	CA431427906	DES	c.267G>C (p.Leu89=)
2	g.219418729G>T	CA431427908	DES	c.267G>T (p.Leu89=)	gnomAD v4
2	g.219418730G>A	CA350684685	DES	c.268G>A (p.Asp90Asn)	gnomAD v4
2	g.219418730G>C	CA350684687	DES	c.268G>C (p.Asp90His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418730G=	CA1329209960	DES	c.268G= (p.Asp90=)
2	g.219418730G>T	CA350684690	DES	c.268G>T (p.Asp90Tyr)
2	g.219418730_219418731insC	CA539843122	DES	c.268_269insC (p.Asp90AlafsTer28)	dbSNP gnomAD v2 gnomAD v4
2	g.219418731A=	CA1329209961	DES	c.269A= (p.Asp90=)
2	g.219418731A>C	CA350684713	DES	c.269A>C (p.Asp90Ala)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.219418731A>G	CA350684716	DES	c.269A>G (p.Asp90Gly)
2	g.219418731A>T	CA350684720	DES	c.269A>T (p.Asp90Val)	ClinVar dbSNP
2	g.219418732C>A	CA350684722	DES	c.270C>A (p.Asp90Glu)	dbSNP gnomAD v4
2	g.219418732C=	CA1329209962	DES	c.270C= (p.Asp90=)
2	g.219418732C>G	CA350684724	DES	c.270C>G (p.Asp90Glu)
2	g.219418732C>T	CA431427912	DES	c.270C>T (p.Asp90=)
2	g.219418733T>A	CA350684749	DES	c.271T>A (p.Phe91Ile)
2	g.219418733T>C	CA350684746	DES	c.271T>C (p.Phe91Leu)
2	g.219418733T>G	CA350684730	DES	c.271T>G (p.Phe91Val)
2	g.219418734T>A	CA350684761	DES	c.272T>A (p.Phe91Tyr)
2	g.219418734T>C	CA350684754	DES	c.272T>C (p.Phe91Ser)
2	g.219418734T>G	CA350684763	DES	c.272T>G (p.Phe91Cys)
2	g.219418735C>A	CA350684766	DES	c.273C>A (p.Phe91Leu)	gnomAD v4
2	g.219418735C=	CA1329209963	DES	c.273C= (p.Phe91=)
2	g.219418735C>G	CA350684768	DES	c.273C>G (p.Phe91Leu)	gnomAD v4
2	g.219418735C>T	CA65981039	DES	c.273C>T (p.Phe91=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418736T>A	CA350684770	DES	c.274T>A (p.Ser92Thr)
2	g.219418736T>C	CA350684771	DES	c.274T>C (p.Ser92Pro)	COSMIC
2	g.219418736T>G	CA350684773	DES	c.274T>G (p.Ser92Ala)
2	g.219418737C>A	CA350684777	DES	c.275C>A (p.Ser92Ter)	gnomAD v4
2	g.219418737C=	CA1329209964	DES	c.275C= (p.Ser92=)
2	g.219418737C>G	CA350684776	DES	c.275C>G (p.Ser92Ter)
2	g.219418737C>T	CA350684775	DES	c.275C>T (p.Ser92Leu)	ClinVar dbSNP gnomAD v4
2	g.219418738A=	CA1329209965	DES	c.276A= (p.Ser92=)
2	g.219418738A>C	CA431427920	DES	c.276A>C (p.Ser92=)
2	g.219418738A>G	CA431427922	DES	c.276A>G (p.Ser92=)	dbSNP
2	g.219418738A>T	CA431427921	DES	c.276A>T (p.Ser92=)
2	g.219418739C>A	CA350684779	DES	c.277C>A (p.Leu93Met)
2	g.219418739C=	CA1329209966	DES	c.277C= (p.Leu93=)
2	g.219418739C>G	CA350684780	DES	c.277C>G (p.Leu93Val)	gnomAD v4
2	g.219418739C>T	CA65981047	DES	c.277C>T (p.Leu93=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418740T>A	CA350684786	DES	c.278T>A (p.Leu93Gln)
2	g.219418740T>C	CA350684789	DES	c.278T>C (p.Leu93Pro)	ClinVar gnomAD v4
2	g.219418740T>G	CA350684795	DES	c.278T>G (p.Leu93Arg)
2	g.219418741G>A	CA431427923	DES	c.279G>A (p.Leu93=)	gnomAD v4
2	g.219418741G>C	CA431427924	DES	c.279G>C (p.Leu93=)
2	g.219418741G>T	CA431427926	DES	c.279G>T (p.Leu93=)
2	g.219418742G>A	CA350684801	DES	c.280G>A (p.Ala94Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418742G>C	CA350684815	DES	c.280G>C (p.Ala94Pro)	gnomAD v4
2	g.219418742G=	CA1329209967	DES	c.280G= (p.Ala94=)
2	g.219418742G>T	CA350684810	DES	c.280G>T (p.Ala94Ser)
2	g.219418743C>A	CA350684817	DES	c.281C>A (p.Ala94Asp)
2	g.219418743C=	CA1329209968	DES	c.281C= (p.Ala94=)
2	g.219418743C>G	CA350684820	DES	c.281C>G (p.Ala94Gly)
2	g.219418743C>T	CA350684826	DES	c.281C>T (p.Ala94Val)	dbSNP gnomAD v2 gnomAD v4
2	g.219418744C>A	CA431427931	DES	c.282C>A (p.Ala94=)
2	g.219418744C=	CA1329209969	DES	c.282C= (p.Ala94=)
2	g.219418744C>G	CA133841	DES	c.282C>G (p.Ala94=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418744C>T	CA431427932	DES	c.282C>T (p.Ala94=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418745G>A	CA350684837	DES	c.283G>A (p.Asp95Asn)	gnomAD v4
2	g.219418745G>C	CA350684846	DES	c.283G>C (p.Asp95His)
2	g.219418745G>T	CA350684851	DES	c.283G>T (p.Asp95Tyr)	gnomAD v4
2	g.219418746A=	CA1329209970	DES	c.284A= (p.Asp95=)
2	g.219418746A>C	CA350684856	DES	c.284A>C (p.Asp95Ala)
2	g.219418746A>G	CA350684861	DES	c.284A>G (p.Asp95Gly)
2	g.219418746A>T	CA350684863	DES	c.284A>T (p.Asp95Val)	ClinVar dbSNP
2	g.219418747C>A	CA350684888	DES	c.285C>A (p.Asp95Glu)	gnomAD v4
2	g.219418747C=	CA1329209971	DES	c.285C= (p.Asp95=)
2	g.219418747C>G	CA350684885	DES	c.285C>G (p.Asp95Glu)
2	g.219418747C>T	CA2125050	DES	c.285C>T (p.Asp95=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418748G>A	CA350684893	DES	c.286G>A (p.Ala96Thr)	gnomAD v4
2	g.219418748G>C	CA350684898	DES	c.286G>C (p.Ala96Pro)
2	g.219418748G=	CA1329209972	DES	c.286G= (p.Ala96=)
2	g.219418748G>T	CA10587549	DES	c.286G>T (p.Ala96Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418749C>A	CA65981058	DES	c.287C>A (p.Ala96Glu)	dbSNP gnomAD v4
2	g.219418749C=	CA1329209973	DES	c.287C= (p.Ala96=)
2	g.219418749C>G	CA350684907	DES	c.287C>G (p.Ala96Gly)	ClinVar
2	g.219418749C>T	CA350684913	DES	c.287C>T (p.Ala96Val)	COSMIC
2	g.219418750G>A	CA431427939	DES	c.288G>A (p.Ala96=)	gnomAD v4
2	g.219418750G>C	CA431427940	DES	c.288G>C (p.Ala96=)	dbSNP
2	g.219418750G=	CA1329209974	DES	c.288G= (p.Ala96=)
2	g.219418750G>T	CA431427941	DES	c.288G>T (p.Ala96=)	gnomAD v4
2	g.219418751G>A	CA350684928	DES	c.289G>A (p.Val97Met)	gnomAD v4
2	g.219418751G>C	CA350684929	DES	c.289G>C (p.Val97Leu)
2	g.219418751G>T	CA350684930	DES	c.289G>T (p.Val97Leu)
2	g.219418752T>A	CA350684933	DES	c.290T>A (p.Val97Glu)	gnomAD v4
2	g.219418752T>C	CA350684936	DES	c.290T>C (p.Val97Ala)
2	g.219418752T>G	CA350684938	DES	c.290T>G (p.Val97Gly)
2	g.219418753G>A	CA2125051	DES	c.291G>A (p.Val97=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418753G>C	CA431427946	DES	c.291G>C (p.Val97=)
2	g.219418753G=	CA1329209975	DES	c.291G= (p.Val97=)
2	g.219418753G>T	CA431427947	DES	c.291G>T (p.Val97=)	gnomAD v4
2	g.219418754A>C	CA350684952	DES	c.292A>C (p.Asn98His)
2	g.219418754A>G	CA350684947	DES	c.292A>G (p.Asn98Asp)	gnomAD v4
2	g.219418754A>T	CA350684950	DES	c.292A>T (p.Asn98Tyr)	ClinVar
2	g.219418755A>C	CA350684954	DES	c.293A>C (p.Asn98Thr)
2	g.219418755A>G	CA350684957	DES	c.293A>G (p.Asn98Ser)	gnomAD v4
2	g.219418755A>T	CA350684962	DES	c.293A>T (p.Asn98Ile)
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

Number of alleles fetched