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.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=)

Number of alleles fetched