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.219418808_219418812delinsTAGT	CA2580065782	DES	c.346_350delinsTAGT (p.Asn116Ter)	ClinVar
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
2	g.219418857A=	CA1329210041	DES	c.395A= (p.Gln132=)
2	g.219418857A>C	CA350685831	DES	c.395A>C (p.Gln132Pro)
2	g.219418857A>G	CA350685835	DES	c.395A>G (p.Gln132Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.219418857A>T	CA350685839	DES	c.395A>T (p.Gln132Leu)
2	g.219418858G>A	CA431427644	DES	c.396G>A (p.Gln132=)	gnomAD v4
2	g.219418858G>C	CA350685844	DES	c.396G>C (p.Gln132His)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418858G=	CA1329210042	DES	c.396G= (p.Gln132=)
2	g.219418858G>T	CA350685850	DES	c.396G>T (p.Gln132His)	gnomAD v4
2	g.219418859A=	CA1329210043	DES	c.397A= (p.Asn133=)
2	g.219418859A>C	CA65981215	DES	c.397A>C (p.Asn133His)	dbSNP
2	g.219418859A>G	CA350685858	DES	c.397A>G (p.Asn133Asp)
2	g.219418859A>T	CA350685861	DES	c.397A>T (p.Asn133Tyr)
2	g.219418860A>C	CA350685864	DES	c.398A>C (p.Asn133Thr)
2	g.219418860A>G	CA350685868	DES	c.398A>G (p.Asn133Ser)
2	g.219418860A>T	CA350685875	DES	c.398A>T (p.Asn133Ile)
2	g.219418860_219418871delinsACGCGGCGCTCG	CA1329210044	DES	c.398_409delinsACGCGGCGCTCG (p.Asn133=)
2	g.219418861C>A	CA350685878	DES	c.399C>A (p.Asn133Lys)
2	g.219418861C>G	CA350685880	DES	c.399C>G (p.Asn133Lys)
2	g.219418861C>T	CA431427653	DES	c.399C>T (p.Asn133=)	ClinVar gnomAD v4
2	g.219418862_219418872del	CA1042520775	DES	c.400_410del (p.Ala134ArgfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418862G>A	CA350685885	DES	c.400G>A (p.Ala134Thr)	dbSNP gnomAD v2
2	g.219418862G>C	CA350685890	DES	c.400G>C (p.Ala134Pro)
2	g.219418862G=	CA1329210045	DES	c.400G= (p.Ala134=)
2	g.219418862G>T	CA350685887	DES	c.400G>T (p.Ala134Ser)	gnomAD v4
2	g.219418863C>A	CA350685894	DES	c.401C>A (p.Ala134Glu)	ClinVar gnomAD v4
2	g.219418863C>G	CA350685897	DES	c.401C>G (p.Ala134Gly)
2	g.219418863C>T	CA350685902	DES	c.401C>T (p.Ala134Val)	gnomAD v4
2	g.219418864G>A	CA65981216	DES	c.402G>A (p.Ala134=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418864G>C	CA431427658	DES	c.402G>C (p.Ala134=)
2	g.219418864G=	CA1329210046	DES	c.402G= (p.Ala134=)
2	g.219418864G>T	CA431427659	DES	c.402G>T (p.Ala134=)	gnomAD v4
2	g.219418865G>A	CA350685912	DES	c.403G>A (p.Ala135Thr)	gnomAD v4
2	g.219418865G>C	CA350685913	DES	c.403G>C (p.Ala135Pro)
2	g.219418865G>T	CA350685914	DES	c.403G>T (p.Ala135Ser)
2	g.219418866C>A	CA350685918	DES	c.404C>A (p.Ala135Glu)	dbSNP gnomAD v4
2	g.219418866C=	CA1329210047	DES	c.404C= (p.Ala135=)
2	g.219418866C>G	CA350685921	DES	c.404C>G (p.Ala135Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418866C>T	CA2125063	DES	c.404C>T (p.Ala135Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418867G>A	CA431427672	DES	c.405G>A (p.Ala135=)	ClinVar dbSNP gnomAD v4
2	g.219418867G>C	CA431427674	DES	c.405G>C (p.Ala135=)	gnomAD v4
2	g.219418867G=	CA1329210048	DES	c.405G= (p.Ala135=)
2	g.219418867G>T	CA431427676	DES	c.405G>T (p.Ala135=)	dbSNP gnomAD v4
2	g.219418868C>A	CA350685935	DES	c.406C>A (p.Leu136Ile)	gnomAD v4
2	g.219418868C=	CA1329210049	DES	c.406C= (p.Leu136=)
2	g.219418868C>G	CA350685931	DES	c.406C>G (p.Leu136Val)	ClinVar dbSNP gnomAD v4
2	g.219418868C>T	CA350685928	DES	c.406C>T (p.Leu136Phe)	dbSNP gnomAD v2
2	g.219418869T>A	CA133850	DES	c.407T>A (p.Leu136His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418869T>C	CA350685955	DES	c.407T>C (p.Leu136Pro)	ClinVar dbSNP gnomAD v4
2	g.219418869T>G	CA350685940	DES	c.407T>G (p.Leu136Arg)
2	g.219418869T=	CA1329210050	DES	c.407T= (p.Leu136=)
2	g.219418870C>A	CA431427685	DES	c.408C>A (p.Leu136=)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.219418870C=	CA1329210051	DES	c.408C= (p.Leu136=)
2	g.219418870C>G	CA431427686	DES	c.408C>G (p.Leu136=)
2	g.219418870C>T	CA133853	DES	c.408C>T (p.Leu136=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418871G>A	CA350685966	DES	c.409G>A (p.Ala137Thr)	ClinVar
2	g.219418871G>C	CA350685969	DES	c.409G>C (p.Ala137Pro)	gnomAD v4 COSMIC
2	g.219418871G>T	CA350685972	DES	c.409G>T (p.Ala137Ser)	gnomAD v4
2	g.219418872C>A	CA10581947	DES	c.410C>A (p.Ala137Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418872C=	CA1329210052	DES	c.410C= (p.Ala137=)
2	g.219418872C>G	CA350685980	DES	c.410C>G (p.Ala137Gly)	gnomAD v4
2	g.219418872C>T	CA2125064	DES	c.410C>T (p.Ala137Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418873C>A	CA431427706	DES	c.411C>A (p.Ala137=)	gnomAD v4
2	g.219418873C=	CA1329210053	DES	c.411C= (p.Ala137=)
2	g.219418873C>G	CA2125065	DES	c.411C>G (p.Ala137=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418873C>T	CA431427703	DES	c.411C>T (p.Ala137=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.219418874G>A	CA350685989	DES	c.412G>A (p.Ala138Thr)	dbSNP gnomAD v4
2	g.219418874G>C	CA350685992	DES	c.412G>C (p.Ala138Pro)
2	g.219418874G=	CA1329210054	DES	c.412G= (p.Ala138=)
2	g.219418874G>T	CA350685995	DES	c.412G>T (p.Ala138Ser)	gnomAD v4
2	g.219418875C>A	CA350685997	DES	c.413C>A (p.Ala138Asp)
2	g.219418875C>G	CA350685998	DES	c.413C>G (p.Ala138Gly)
2	g.219418875C>T	CA350685999	DES	c.413C>T (p.Ala138Val)
2	g.219418876C>A	CA431427715	DES	c.414C>A (p.Ala138=)	gnomAD v4
2	g.219418876C=	CA1329210055	DES	c.414C= (p.Ala138=)
2	g.219418876C>G	CA431427711	DES	c.414C>G (p.Ala138=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418876C>T	CA431427709	DES	c.414C>T (p.Ala138=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418877G>A	CA16610612	DES	c.415G>A (p.Glu139Lys)	ClinVar dbSNP gnomAD v4
2	g.219418877G>C	CA2125066	DES	c.415G>C (p.Glu139Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418877G=	CA1329210056	DES	c.415G= (p.Glu139=)
2	g.219418877G>T	CA350686002	DES	c.415G>T (p.Glu139Ter)
2	g.219418878A>C	CA350686009	DES	c.416A>C (p.Glu139Ala)
2	g.219418878A>G	CA350686012	DES	c.416A>G (p.Glu139Gly)
2	g.219418878A>T	CA350686015	DES	c.416A>T (p.Glu139Val)	gnomAD v4
2	g.219418879A=	CA1329210057	DES	c.417A= (p.Glu139=)
2	g.219418879A>C	CA350686018	DES	c.417A>C (p.Glu139Asp)
2	g.219418879A>G	CA431427720	DES	c.417A>G (p.Glu139=)	dbSNP gnomAD v4
2	g.219418879A>T	CA350686021	DES	c.417A>T (p.Glu139Asp)
2	g.219418880G>A	CA350686024	DES	c.418G>A (p.Val140Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418880G>C	CA350686027	DES	c.418G>C (p.Val140Leu)	ClinVar dbSNP
2	g.219418880G=	CA1329210058	DES	c.418G= (p.Val140=)
2	g.219418880G>T	CA350686030	DES	c.418G>T (p.Val140Leu)
2	g.219418881T>A	CA350686032	DES	c.419T>A (p.Val140Glu)
2	g.219418881T>C	CA350686034	DES	c.419T>C (p.Val140Ala)	gnomAD v4
2	g.219418881T>G	CA350686037	DES	c.419T>G (p.Val140Gly)
2	g.219418882G>A	CA431427727	DES	c.420G>A (p.Val140=)
2	g.219418882G>C	CA431427728	DES	c.420G>C (p.Val140=)	dbSNP
2	g.219418882G=	CA1329210059	DES	c.420G= (p.Val140=)
2	g.219418882G>T	CA431427729	DES	c.420G>T (p.Val140=)	gnomAD v4
2	g.219418883A>C	CA350686039	DES	c.421A>C (p.Asn141His)
2	g.219418883A>G	CA350686045	DES	c.421A>G (p.Asn141Asp)
2	g.219418883A>T	CA350686041	DES	c.421A>T (p.Asn141Tyr)
2	g.219418884A>C	CA350686048	DES	c.422A>C (p.Asn141Thr)
2	g.219418884A>G	CA350686050	DES	c.422A>G (p.Asn141Ser)
2	g.219418884A>T	CA350686053	DES	c.422A>T (p.Asn141Ile)
2	g.219418885C>A	CA350686055	DES	c.423C>A (p.Asn141Lys)	gnomAD v4
2	g.219418885C=	CA1329210060	DES	c.423C= (p.Asn141=)
2	g.219418885C>G	CA350686059	DES	c.423C>G (p.Asn141Lys)	dbSNP
2	g.219418885C>T	CA431427741	DES	c.423C>T (p.Asn141=)	ClinVar dbSNP gnomAD v4
2	g.219418886C>A	CA431427744	DES	c.424C>A (p.Arg142=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418886C=	CA1329210061	DES	c.424C= (p.Arg142=)
2	g.219418886C>G	CA350686062	DES	c.424C>G (p.Arg142Gly)	gnomAD v4
2	g.219418886C>T	CA350686066	DES	c.424C>T (p.Arg142Trp)	gnomAD v4
2	g.219418887G>A	CA350686069	DES	c.425G>A (p.Arg142Gln)	dbSNP gnomAD v4
2	g.219418887G>C	CA350686075	DES	c.425G>C (p.Arg142Pro)	ClinVar
2	g.219418887G=	CA1329210062	DES	c.425G= (p.Arg142=)
2	g.219418887G>T	CA350686077	DES	c.425G>T (p.Arg142Leu)	gnomAD v4
2	g.219418888G>A	CA431427756	DES	c.426G>A (p.Arg142=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418888G>C	CA431427757	DES	c.426G>C (p.Arg142=)
2	g.219418888G=	CA1329210063	DES	c.426G= (p.Arg142=)
2	g.219418888G>T	CA431427758	DES	c.426G>T (p.Arg142=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418889C>A	CA350686085	DES	c.427C>A (p.Leu143Ile)	gnomAD v4
2	g.219418889C=	CA1329210064	DES	c.427C= (p.Leu143=)
2	g.219418889C>G	CA350686082	DES	c.427C>G (p.Leu143Val)	ClinVar dbSNP
2	g.219418889C>T	CA350686080	DES	c.427C>T (p.Leu143Phe)	gnomAD v4
2	g.219418890T>A	CA350686087	DES	c.428T>A (p.Leu143His)
2	g.219418890T>C	CA350686089	DES	c.428T>C (p.Leu143Pro)	ClinVar dbSNP
2	g.219418890T>G	CA350686092	DES	c.428T>G (p.Leu143Arg)	ClinVar
2	g.219418890T=	CA1329210065	DES	c.428T= (p.Leu143=)
2	g.219418891C>A	CA431427762	DES	c.429C>A (p.Leu143=)
2	g.219418891C=	CA1329210066	DES	c.429C= (p.Leu143=)
2	g.219418891C>G	CA431427763	DES	c.429C>G (p.Leu143=)
2	g.219418891C>T	CA65981248	DES	c.429C>T (p.Leu143=)	ClinVar dbSNP gnomAD v4
2	g.219418892A=	CA1329210067	DES	c.430A= (p.Lys144=)
2	g.219418892A>C	CA350686101	DES	c.430A>C (p.Lys144Gln)
2	g.219418892A>G	CA350686106	DES	c.430A>G (p.Lys144Glu)	gnomAD v4
2	g.219418892A>T	CA350686110	DES	c.430A>T (p.Lys144Ter)	dbSNP
2	g.219418893A>C	CA350686114	DES	c.431A>C (p.Lys144Thr)
2	g.219418893A>G	CA350686117	DES	c.431A>G (p.Lys144Arg)	gnomAD v4
2	g.219418893A>T	CA350686122	DES	c.431A>T (p.Lys144Met)
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

Number of alleles fetched