Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.3082909_3082972del	CA1014830634	AVP	c.322+14_322+77del (n.322+14_322+77del)	gnomAD v3 gnomAD v4
20	g.3082970_3083024del	CA2651674822	AVP	c.280_322+12del	gnomAD v4
20	g.3082972_3082996del	CA2651674828	AVP	c.308_322+10del	gnomAD v4
20	g.3082972C>A	CA2651674836	AVP	c.322+5G>T (n.322+5G>T)	gnomAD v4
20	g.3082972C=	CA2346405514	AVP	c.322+5G= (n.322+5G=)
20	g.3082972C>T	CA634329005	AVP	c.322+5G>A (n.322+5G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082973G>A	CA2651674837	AVP	c.322+4C>T (n.322+4C>T)	gnomAD v4
20	g.3082973G>C	CA2651674838	AVP	c.322+4C>G (n.322+4C>G)	gnomAD v4
20	g.3082973G=	CA2346405515	AVP	c.322+4C= (n.322+4C=)
20	g.3082973G>T	CA9739437	AVP	c.322+4C>A (n.322+4C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082974C>A	CA2651674839	AVP	c.322+3G>T (n.322+3G>T)	gnomAD v4
20	g.3082974C=	CA2346405516	AVP	c.322+3G= (n.322+3G=)
20	g.3082974C>T	CA9739438	AVP	c.322+3G>A (n.322+3G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3082975A=	CA2346405517	AVP	c.322+2T= (n.322+2T=)
20	g.3082975A>C	CA408061458	AVP	c.322+2T>G (n.322+2T>G)	ClinVar dbSNP gnomAD v4
20	g.3082975A>G	CA408061459	AVP	c.322+2T>C (n.322+2T>C)
20	g.3082975A>T	CA408061460	AVP	c.322+2T>A (n.322+2T>A)
20	g.3082976C>A	CA408061461	AVP	c.322+1G>T (n.322+1G>T)	gnomAD v4
20	g.3082976C=	CA2346405518	AVP	c.322+1G= (n.322+1G=)
20	g.3082976C>G	CA408061462	AVP	c.322+1G>C (n.322+1G>C)
20	g.3082976C>T	CA408061463	AVP	c.322+1G>A (n.322+1G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082977del	CA2695229214	AVP	c.322+1del
20	g.3082977C>A	CA408061464	AVP	c.322G>T (p.Glu108Ter)	gnomAD v4
20	g.3082977C=	CA2346405519	AVP	c.322G= (p.Glu108=)
20	g.3082977C>G	CA408061465	AVP	c.322G>C (p.Glu108Gln)	dbSNP gnomAD v3 gnomAD v4
20	g.3082977C>T	CA408061466	AVP	c.322G>A (p.Glu108Lys)	dbSNP gnomAD v4
20	g.3082978del	CA2651674840	AVP	c.321del (p.Asp107GlufsTer5)	gnomAD v4
20	g.3082978G>A	CA9739439	AVP	c.321C>T (p.Asp107=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082978G>C	CA408061467	AVP	c.321C>G (p.Asp107Glu)	ClinVar gnomAD v4
20	g.3082978G=	CA2346405520	AVP	c.321C= (p.Asp107=)
20	g.3082978G>T	CA408061468	AVP	c.321C>A (p.Asp107Glu)	gnomAD v4
20	g.3082979T>A	CA408061469	AVP	c.320A>T (p.Asp107Val)	gnomAD v4
20	g.3082979T>C	CA408061470	AVP	c.320A>G (p.Asp107Gly)	dbSNP gnomAD v4
20	g.3082979T>G	CA408061471	AVP	c.320A>C (p.Asp107Ala)	gnomAD v4
20	g.3082979T=	CA2346405521	AVP	c.320A= (p.Asp107=)
20	g.3082980C>A	CA408061472	AVP	c.319G>T (p.Asp107Tyr)	dbSNP gnomAD v4
20	g.3082980C=	CA2346405522	AVP	c.319G= (p.Asp107=)
20	g.3082980C>G	CA408061473	AVP	c.319G>C (p.Asp107His)	gnomAD v4
20	g.3082980C>T	CA9739440	AVP	c.319G>A (p.Asp107Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082981G>A	CA509554613	AVP	c.318C>T (p.Asn106=)	gnomAD v4
20	g.3082981G>C	CA408061474	AVP	c.318C>G (p.Asn106Lys)	dbSNP gnomAD v4
20	g.3082981G=	CA2346405523	AVP	c.318C= (p.Asn106=)
20	g.3082981G>T	CA408061475	AVP	c.318C>A (p.Asn106Lys)	gnomAD v4
20	g.3082982T>A	CA408061476	AVP	c.317A>T (p.Asn106Ile)
20	g.3082982T>C	CA408061477	AVP	c.317A>G (p.Asn106Ser)	gnomAD v4
20	g.3082982T>G	CA408061478	AVP	c.317A>C (p.Asn106Thr)	gnomAD v4
20	g.3082983T>A	CA408061481	AVP	c.316A>T (p.Asn106Tyr)
20	g.3082983T>C	CA408061480	AVP	c.316A>G (p.Asn106Asp)	gnomAD v4
20	g.3082983T>G	CA408061479	AVP	c.316A>C (p.Asn106His)
20	g.3082984G>A	CA509554617	AVP	c.315C>T (p.Cys105=)	gnomAD v4
20	g.3082984G>C	CA408061482	AVP	c.315C>G (p.Cys105Trp)
20	g.3082984G=	CA2346405524	AVP	c.315C= (p.Cys105=)
20	g.3082984G>T	CA408061483	AVP	c.315C>A (p.Cys105Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082985C>A	CA408061484	AVP	c.314G>T (p.Cys105Phe)	gnomAD v4
20	g.3082985C>G	CA408061485	AVP	c.314G>C (p.Cys105Ser)	gnomAD v4
20	g.3082985C>T	CA408061486	AVP	c.314G>A (p.Cys105Tyr)	gnomAD v4
20	g.3082986A>C	CA408061487	AVP	c.313T>G (p.Cys105Gly)
20	g.3082986A>G	CA408061488	AVP	c.313T>C (p.Cys105Arg)	gnomAD v4
20	g.3082986A>T	CA408061489	AVP	c.313T>A (p.Cys105Ser)
20	g.3082987G>A	CA509554621	AVP	c.312C>T (p.Cys104=)	gnomAD v4
20	g.3082987G>C	CA408061490	AVP	c.312C>G (p.Cys104Trp)
20	g.3082987G>T	CA408061491	AVP	c.312C>A (p.Cys104Ter)	gnomAD v4
20	g.3082988C>A	CA408061492	AVP	c.311G>T (p.Cys104Phe)	gnomAD v4
20	g.3082988C>G	CA408061493	AVP	c.311G>C (p.Cys104Ser)
20	g.3082988C>T	CA408061494	AVP	c.311G>A (p.Cys104Tyr)
20	g.3082989A>C	CA408061497	AVP	c.310T>G (p.Cys104Gly)
20	g.3082989A>G	CA408061495	AVP	c.310T>C (p.Cys104Arg)	gnomAD v4
20	g.3082989A>T	CA408061496	AVP	c.310T>A (p.Cys104Ser)
20	g.3082990A>C	CA509554622	AVP	c.309T>G (p.Val103=)
20	g.3082990A>G	CA509554623	AVP	c.309T>C (p.Val103=)	gnomAD v4
20	g.3082990A>T	CA509554624	AVP	c.309T>A (p.Val103=)
20	g.3082991A>C	CA408061498	AVP	c.308T>G (p.Val103Gly)
20	g.3082991A>G	CA408061499	AVP	c.308T>C (p.Val103Ala)	gnomAD v4
20	g.3082991A>T	CA408061500	AVP	c.308T>A (p.Val103Asp)
20	g.3082992C>A	CA408061501	AVP	c.307G>T (p.Val103Phe)	dbSNP gnomAD v4
20	g.3082992C=	CA2346405525	AVP	c.307G= (p.Val103=)
20	g.3082992C>G	CA408061502	AVP	c.307G>C (p.Val103Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082992C>T	CA408061503	AVP	c.307G>A (p.Val103Ile)	gnomAD v4
20	g.3082993G>A	CA509554628	AVP	c.306C>T (p.Gly102=)	gnomAD v4
20	g.3082993G>C	CA509554629	AVP	c.306C>G (p.Gly102=)
20	g.3082993G>T	CA509554630	AVP	c.306C>A (p.Gly102=)	gnomAD v4
20	g.3082994C>A	CA408061504	AVP	c.305G>T (p.Gly102Val)	gnomAD v4
20	g.3082994C>G	CA408061505	AVP	c.305G>C (p.Gly102Ala)	dbSNP
20	g.3082994C>T	CA408061506	AVP	c.305G>A (p.Gly102Asp)	gnomAD v4
20	g.3082995C>A	CA9739441	AVP	c.304G>T (p.Gly102Cys)	dbSNP ExAC gnomAD v4
20	g.3082995C=	CA2346405526	AVP	c.304G= (p.Gly102=)
20	g.3082995C>G	CA408061507	AVP	c.304G>C (p.Gly102Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082995C>T	CA9739442	AVP	c.304G>A (p.Gly102Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3082996G>A	CA509554634	AVP	c.303C>T (p.Phe101=)	gnomAD v4
20	g.3082996G>C	CA408061508	AVP	c.303C>G (p.Phe101Leu)
20	g.3082996G>T	CA408061509	AVP	c.303C>A (p.Phe101Leu)	gnomAD v4
20	g.3082996_3082997delinsGA	CA2346405527	AVP	c.302_303delinsTC (p.Phe101=)
20	g.3082997A>C	CA408061510	AVP	c.302T>G (p.Phe101Cys)
20	g.3082997A>G	CA408061511	AVP	c.302T>C (p.Phe101Ser)	gnomAD v4
20	g.3082997A>T	CA408061512	AVP	c.302T>A (p.Phe101Tyr)
20	g.3082998del	CA634329006	AVP	c.302del (p.Phe101SerfsTer11)	dbSNP gnomAD v2 gnomAD v4
20	g.3082998A>C	CA408061513	AVP	c.301T>G (p.Phe101Val)	gnomAD v4
20	g.3082998A>G	CA408061514	AVP	c.301T>C (p.Phe101Leu)	gnomAD v4
20	g.3082998A>T	CA408061515	AVP	c.301T>A (p.Phe101Ile)	gnomAD v4
20	g.3082999G>A	CA509554636	AVP	c.300C>T (p.Ala100=)	dbSNP gnomAD v4
20	g.3082999G>C	CA509554637	AVP	c.300C>G (p.Ala100=)	dbSNP gnomAD v4
20	g.3082999G=	CA2346405528	AVP	c.300C= (p.Ala100=)
20	g.3082999G>T	CA509554638	AVP	c.300C>A (p.Ala100=)	gnomAD v4
20	g.3083000G>A	CA408061518	AVP	c.299C>T (p.Ala100Val)	gnomAD v4
20	g.3083000G>C	CA408061517	AVP	c.299C>G (p.Ala100Gly)
20	g.3083000G>T	CA408061516	AVP	c.299C>A (p.Ala100Asp)	gnomAD v4
20	g.3083001C>A	CA408061519	AVP	c.298G>T (p.Ala100Ser)	gnomAD v4
20	g.3083001C=	CA2346405529	AVP	c.298G= (p.Ala100=)
20	g.3083001C>G	CA408061520	AVP	c.298G>C (p.Ala100Pro)
20	g.3083001C>T	CA408061521	AVP	c.298G>A (p.Ala100Thr)	dbSNP gnomAD v2 gnomAD v4
20	g.3083002G>A	CA509554640	AVP	c.297C>T (p.Ala99=)	dbSNP gnomAD v4
20	g.3083002G>C	CA509554641	AVP	c.297C>G (p.Ala99=)
20	g.3083002G=	CA2346405530	AVP	c.297C= (p.Ala99=)
20	g.3083002G>T	CA509554642	AVP	c.297C>A (p.Ala99=)	gnomAD v4
20	g.3083003G>A	CA408061522	AVP	c.296C>T (p.Ala99Val)	gnomAD v4
20	g.3083003G>C	CA408061523	AVP	c.296C>G (p.Ala99Gly)
20	g.3083003G>T	CA408061524	AVP	c.296C>A (p.Ala99Asp)
20	g.3083004C>A	CA408061525	AVP	c.295G>T (p.Ala99Ser)	gnomAD v4
20	g.3083004C=	CA2346405531	AVP	c.295G= (p.Ala99=)
20	g.3083004C>G	CA408061527	AVP	c.295G>C (p.Ala99Pro)
20	g.3083004C>T	CA408061526	AVP	c.295G>A (p.Ala99Thr)	dbSNP gnomAD v2 gnomAD v4
20	g.3083005G>A	CA9739443	AVP	c.294C>T (p.Cys98=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083005G>C	CA408061528	AVP	c.294C>G (p.Cys98Trp)
20	g.3083005G=	CA2346405532	AVP	c.294C= (p.Cys98=)
20	g.3083005G>T	CA121952	AVP	c.294C>A (p.Cys98Ter)	ClinVar dbSNP gnomAD v4
20	g.3083005_3083006delinsAG	CA2695229215	AVP	c.293_294delinsCT (p.Cys98Ser)
20	g.3083006C>A	CA408061529	AVP	c.293G>T (p.Cys98Phe)	gnomAD v4
20	g.3083006C>G	CA408061530	AVP	c.293G>C (p.Cys98Ser)
20	g.3083006C>T	CA408061531	AVP	c.293G>A (p.Cys98Tyr)	gnomAD v4
20	g.3083007A>C	CA408061532	AVP	c.292T>G (p.Cys98Gly)
20	g.3083007A>G	CA408061533	AVP	c.292T>C (p.Cys98Arg)	gnomAD v4
20	g.3083007A>T	CA408061534	AVP	c.292T>A (p.Cys98Ser)
20	g.3083008G>A	CA509554646	AVP	c.291C>T (p.Arg97=)	gnomAD v4
20	g.3083008G>C	CA509554647	AVP	c.291C>G (p.Arg97=)	dbSNP gnomAD v4
20	g.3083008G=	CA2346405533	AVP	c.291C= (p.Arg97=)
20	g.3083008G>T	CA509554648	AVP	c.291C>A (p.Arg97=)	gnomAD v4
20	g.3083009C>A	CA408061535	AVP	c.290G>T (p.Arg97Leu)	gnomAD v4
20	g.3083009C>G	CA408061536	AVP	c.290G>C (p.Arg97Pro)
20	g.3083009C>T	CA408061537	AVP	c.290G>A (p.Arg97His)	ClinVar gnomAD v4
20	g.3083010G>A	CA408061538	AVP	c.289C>T (p.Arg97Cys)	gnomAD v4
20	g.3083010G>C	CA408061540	AVP	c.289C>G (p.Arg97Gly)
20	g.3083010G>T	CA408061539	AVP	c.289C>A (p.Arg97Ser)	gnomAD v4
20	g.3083011G>A	CA509554652	AVP	c.288C>T (p.Gly96=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083011G>C	CA509554653	AVP	c.288C>G (p.Gly96=)
20	g.3083011G=	CA2346405534	AVP	c.288C= (p.Gly96=)
20	g.3083011G>T	CA509554654	AVP	c.288C>A (p.Gly96=)
20	g.3083012C>A	CA121957	AVP	c.287G>T (p.Gly96Val)	ClinVar dbSNP gnomAD v4
20	g.3083012C=	CA2346405535	AVP	c.287G= (p.Gly96=)
20	g.3083012C>G	CA408061541	AVP	c.287G>C (p.Gly96Ala)	gnomAD v4
20	g.3083012C>T	CA408061542	AVP	c.287G>A (p.Gly96Asp)	gnomAD v4
20	g.3083016dup	CA2651674841	AVP	c.287dup (p.Arg97ProfsTer?)	gnomAD v4
20	g.3083016del	CA634329007	AVP	c.287del (p.Gly96AlafsTer16)	gnomAD v2 gnomAD v4
20	g.3083013C>A	CA408061543	AVP	c.286G>T (p.Gly96Cys)	gnomAD v4
20	g.3083013C>G	CA408061544	AVP	c.286G>C (p.Gly96Arg)
20	g.3083013C>T	CA408061545	AVP	c.286G>A (p.Gly96Ser)	gnomAD v4
20	g.3083014C>A	CA509554660	AVP	c.285G>T (p.Gly95=)	gnomAD v4
20	g.3083014C=	CA2346405536	AVP	c.285G= (p.Gly95=)
20	g.3083014C>G	CA9739444	AVP	c.285G>C (p.Gly95=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083014C>T	CA509554661	AVP	c.285G>A (p.Gly95=)	gnomAD v4
20	g.3083015C>A	CA408061546	AVP	c.284G>T (p.Gly95Val)	gnomAD v4
20	g.3083015C=	CA2346405537	AVP	c.284G= (p.Gly95=)
20	g.3083015C>G	CA408061547	AVP	c.284G>C (p.Gly95Ala)
20	g.3083015C>T	CA408061548	AVP	c.284G>A (p.Gly95Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083016C>A	CA408061549	AVP	c.283G>T (p.Gly95Trp)	gnomAD v4
20	g.3083016C=	CA2346405538	AVP	c.283G= (p.Gly95=)
20	g.3083016C>G	CA408061550	AVP	c.283G>C (p.Gly95Arg)	dbSNP gnomAD v3 gnomAD v4
20	g.3083016C>T	CA310943232	AVP	c.283G>A (p.Gly95Arg)	dbSNP gnomAD v4
20	g.3083017G>A	CA509554670	AVP	c.282C>T (p.Ser94=)	dbSNP gnomAD v3 gnomAD v4
20	g.3083017G>C	CA9739445	AVP	c.282C>G (p.Ser94Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083017G=	CA2346405539	AVP	c.282C= (p.Ser94=)
20	g.3083017G>T	CA408061551	AVP	c.282C>A (p.Ser94Arg)	gnomAD v4
20	g.3083018C>A	CA408061552	AVP	c.281G>T (p.Ser94Ile)	gnomAD v4
20	g.3083018C>G	CA408061553	AVP	c.281G>C (p.Ser94Thr)
20	g.3083018C>T	CA408061554	AVP	c.281G>A (p.Ser94Asn)	gnomAD v4
20	g.3083019T>A	CA408061555	AVP	c.280A>T (p.Ser94Cys)
20	g.3083019T>C	CA408061556	AVP	c.280A>G (p.Ser94Gly)	gnomAD v4
20	g.3083019T>G	CA408061557	AVP	c.280A>C (p.Ser94Arg)
20	g.3083020C>A	CA509554677	AVP	c.279G>T (p.Gly93=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083020C=	CA2346405540	AVP	c.279G= (p.Gly93=)
20	g.3083020C>G	CA509554678	AVP	c.279G>C (p.Gly93=)	dbSNP
20	g.3083020C>T	CA509554679	AVP	c.279G>A (p.Gly93=)	gnomAD v4
20	g.3083022del	CA2651674842	AVP	c.279del (p.Ser94AlafsTer18)	gnomAD v4
20	g.3083021C>A	CA408061558	AVP	c.278G>T (p.Gly93Val)	gnomAD v4
20	g.3083021C=	CA2346405541	AVP	c.278G= (p.Gly93=)
20	g.3083021C>G	CA408061559	AVP	c.278G>C (p.Gly93Ala)
20	g.3083021C>T	CA9739446	AVP	c.278G>A (p.Gly93Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083022C>A	CA121955	AVP	c.277G>T (p.Gly93Trp)	ClinVar dbSNP gnomAD v4
20	g.3083022C=	CA2346405542	AVP	c.277G= (p.Gly93=)
20	g.3083022C>G	CA408061560	AVP	c.277G>C (p.Gly93Arg)
20	g.3083022C>T	CA408061561	AVP	c.277G>A (p.Gly93Arg)	dbSNP gnomAD v4
20	g.3083023G>A	CA509554684	AVP	c.276C>T (p.Cys92=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083023G>C	CA408061562	AVP	c.276C>G (p.Cys92Trp)	gnomAD v4
20	g.3083023G=	CA2346405543	AVP	c.276C= (p.Cys92=)
20	g.3083023G>T	CA408061563	AVP	c.276C>A (p.Cys92Ter)	gnomAD v4
20	g.3083024C>A	CA408061564	AVP	c.275G>T (p.Cys92Phe)	ClinVar gnomAD v4
20	g.3083024C=	CA2346405544	AVP	c.275G= (p.Cys92=)
20	g.3083024C>G	CA408061565	AVP	c.275G>C (p.Cys92Ser)
20	g.3083024C>T	CA121970	AVP	c.275G>A (p.Cys92Tyr)	ClinVar dbSNP gnomAD v4
20	g.3083025A>C	CA408061566	AVP	c.274T>G (p.Cys92Gly)
20	g.3083025A>G	CA408061567	AVP	c.274T>C (p.Cys92Arg)	gnomAD v4
20	g.3083025A>T	CA408061568	AVP	c.274T>A (p.Cys92Ser)
20	g.3083026C>A	CA509554690	AVP	c.273G>T (p.Ala91=)	gnomAD v4
20	g.3083026C=	CA2346405545	AVP	c.273G= (p.Ala91=)
20	g.3083026C>G	CA509554691	AVP	c.273G>C (p.Ala91=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083026C>T	CA9739447	AVP	c.273G>A (p.Ala91=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083027G>A	CA408061569	AVP	c.272C>T (p.Ala91Val)	gnomAD v4 COSMIC
20	g.3083027G>C	CA408061570	AVP	c.272C>G (p.Ala91Gly)
20	g.3083027G=	CA2346405546	AVP	c.272C= (p.Ala91=)
20	g.3083027G>T	CA408061571	AVP	c.272C>A (p.Ala91Glu)	gnomAD v4
20	g.3083028C>A	CA408061573	AVP	c.271G>T (p.Ala91Ser)	gnomAD v4
20	g.3083028C=	CA2346405547	AVP	c.271G= (p.Ala91=)
20	g.3083028C>G	CA310943244	AVP	c.271G>C (p.Ala91Pro)	dbSNP gnomAD v4
20	g.3083028C>T	CA408061572	AVP	c.271G>A (p.Ala91Thr)	gnomAD v4
20	g.3083029dup	CA634329008	AVP	c.271dup (p.Ala91GlyfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083029C>A	CA408061574	AVP	c.270G>T (p.Lys90Asn)	gnomAD v4
20	g.3083029C>G	CA408061575	AVP	c.270G>C (p.Lys90Asn)	gnomAD v4
20	g.3083029C>T	CA509554694	AVP	c.270G>A (p.Lys90=)	gnomAD v4
20	g.3083030T>A	CA408061576	AVP	c.269A>T (p.Lys90Met)	gnomAD v4
20	g.3083030T>C	CA408061577	AVP	c.269A>G (p.Lys90Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083030T>G	CA9739448	AVP	c.269A>C (p.Lys90Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083030T=	CA2346405548	AVP	c.269A= (p.Lys90=)
20	g.3083031del	CA2651674843	AVP	c.269del (p.Lys90ArgfsTer22)	gnomAD v4
20	g.3083031T>A	CA408061578	AVP	c.268A>T (p.Lys90Ter)	gnomAD v4
20	g.3083031T>C	CA408061580	AVP	c.268A>G (p.Lys90Glu)	gnomAD v4
20	g.3083031T>G	CA408061579	AVP	c.268A>C (p.Lys90Gln)
20	g.3083032C>A	CA408061581	AVP	c.267G>T (p.Gln89His)	gnomAD v4
20	g.3083032C=	CA2346405549	AVP	c.267G= (p.Gln89=)
20	g.3083032C>G	CA408061582	AVP	c.267G>C (p.Gln89His)
20	g.3083032C>T	CA509554697	AVP	c.267G>A (p.Gln89=)	dbSNP gnomAD v2
20	g.3083033T>A	CA408061583	AVP	c.266A>T (p.Gln89Leu)
20	g.3083033T>C	CA310943250	AVP	c.266A>G (p.Gln89Arg)	dbSNP gnomAD v2 gnomAD v4
20	g.3083033T>G	CA408061584	AVP	c.266A>C (p.Gln89Pro)
20	g.3083033T=	CA2346405550	AVP	c.266A= (p.Gln89=)
20	g.3083034G>A	CA408061585	AVP	c.265C>T (p.Gln89Ter)	gnomAD v4
20	g.3083034G>C	CA9739449	AVP	c.265C>G (p.Gln89Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083034G=	CA2346405551	AVP	c.265C= (p.Gln89=)
20	g.3083034G>T	CA408061586	AVP	c.265C>A (p.Gln89Lys)	gnomAD v4
20	g.3083035G>A	CA9739450	AVP	c.264C>T (p.Gly88=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083035G>C	CA509554701	AVP	c.264C>G (p.Gly88=)
20	g.3083035G=	CA2346405552	AVP	c.264C= (p.Gly88=)
20	g.3083035G>T	CA509554702	AVP	c.264C>A (p.Gly88=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083036C>A	CA408061587	AVP	c.263G>T (p.Gly88Val)	gnomAD v4
20	g.3083036C>G	CA408061588	AVP	c.263G>C (p.Gly88Ala)	gnomAD v4
20	g.3083036C>T	CA408061589	AVP	c.263G>A (p.Gly88Asp)	gnomAD v4
20	g.3083037C>A	CA408061590	AVP	c.262G>T (p.Gly88Cys)	ClinVar dbSNP gnomAD v4
20	g.3083037C=	CA2346405553	AVP	c.262G= (p.Gly88=)
20	g.3083037C>G	CA408061591	AVP	c.262G>C (p.Gly88Arg)
20	g.3083037C>T	CA121946	AVP	c.262G>A (p.Gly88Ser)	ClinVar dbSNP gnomAD v4
20	g.3083038G>A	CA509554707	AVP	c.261C>T (p.Ser87=)	dbSNP gnomAD v4
20	g.3083038G>C	CA509554709	AVP	c.261C>G (p.Ser87=)	gnomAD v4
20	g.3083038G=	CA2346405554	AVP	c.261C= (p.Ser87=)
20	g.3083038G>T	CA509554708	AVP	c.261C>A (p.Ser87=)	gnomAD v4
20	g.3083039del	CA2651674844	AVP	c.261del (p.Gly88AlafsTer24)	gnomAD v4
20	g.3083039G>A	CA121968	AVP	c.260C>T (p.Ser87Phe)	ClinVar dbSNP gnomAD v4
20	g.3083039G>C	CA408061592	AVP	c.260C>G (p.Ser87Cys)
20	g.3083039G=	CA2346405555	AVP	c.260C= (p.Ser87=)
20	g.3083039G>T	CA408061593	AVP	c.260C>A (p.Ser87Tyr)	ClinVar dbSNP gnomAD v4
20	g.3083040A>C	CA408061594	AVP	c.259T>G (p.Ser87Ala)
20	g.3083040A>G	CA408061595	AVP	c.259T>C (p.Ser87Pro)
20	g.3083040A>T	CA408061596	AVP	c.259T>A (p.Ser87Thr)	gnomAD v4
20	g.3083041C>A	CA408061597	AVP	c.258G>T (p.Gln86His)	gnomAD v4
20	g.3083041C>G	CA408061598	AVP	c.258G>C (p.Gln86His)
20	g.3083041C>T	CA509554649	AVP	c.258G>A (p.Gln86=)	gnomAD v4
20	g.3083042T>A	CA408061599	AVP	c.257A>T (p.Gln86Leu)
20	g.3083042T>C	CA408061600	AVP	c.257A>G (p.Gln86Arg)	gnomAD v4
20	g.3083042T>G	CA408061601	AVP	c.257A>C (p.Gln86Pro)
20	g.3083043G>A	CA408061604	AVP	c.256C>T (p.Gln86Ter)	gnomAD v4
20	g.3083043G>C	CA408061603	AVP	c.256C>G (p.Gln86Glu)
20	g.3083043G>T	CA408061602	AVP	c.256C>A (p.Gln86Lys)	gnomAD v4
20	g.3083044G>A	CA509554651	AVP	c.255C>T (p.Cys85=)	gnomAD v4
20	g.3083044G>C	CA408061605	AVP	c.255C>G (p.Cys85Trp)	gnomAD v4
20	g.3083044G>T	CA408061606	AVP	c.255C>A (p.Cys85Ter)	gnomAD v4
20	g.3083045C>A	CA408061607	AVP	c.254G>T (p.Cys85Phe)	gnomAD v4
20	g.3083045C>G	CA408061608	AVP	c.254G>C (p.Cys85Ser)
20	g.3083045C>T	CA408061609	AVP	c.254G>A (p.Cys85Tyr)	gnomAD v4
20	g.3083046A>C	CA408061610	AVP	c.253T>G (p.Cys85Gly)
20	g.3083046A>G	CA408061611	AVP	c.253T>C (p.Cys85Arg)	gnomAD v4
20	g.3083046A>T	CA408061612	AVP	c.253T>A (p.Cys85Ser)
20	g.3083047G>A	CA509554655	AVP	c.252C>T (p.Pro84=)	gnomAD v4
20	g.3083047G>C	CA9739451	AVP	c.252C>G (p.Pro84=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083047G=	CA2346405556	AVP	c.252C= (p.Pro84=)
20	g.3083047G>T	CA509554658	AVP	c.252C>A (p.Pro84=)	gnomAD v4
20	g.3083048G>A	CA408061613	AVP	c.251C>T (p.Pro84Leu)	gnomAD v4
20	g.3083048G>C	CA408061614	AVP	c.251C>G (p.Pro84Arg)
20	g.3083048G>T	CA408061615	AVP	c.251C>A (p.Pro84His)	gnomAD v4
20	g.3083049G>A	CA408061618	AVP	c.250C>T (p.Pro84Ser)	gnomAD v4
20	g.3083049G>C	CA408061617	AVP	c.250C>G (p.Pro84Ala)
20	g.3083049G>T	CA408061616	AVP	c.250C>A (p.Pro84Thr)	gnomAD v4
20	g.3083050C>A	CA9739452	AVP	c.249G>T (p.Ser83=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083050C=	CA2346405557	AVP	c.249G= (p.Ser83=)
20	g.3083050C>G	CA509554663	AVP	c.249G>C (p.Ser83=)
20	g.3083050C>T	CA509554662	AVP	c.249G>A (p.Ser83=)	dbSNP gnomAD v3 gnomAD v4
20	g.3083051G>A	CA408061621	AVP	c.248C>T (p.Ser83Leu)	gnomAD v4
20	g.3083051G>C	CA408061619	AVP	c.248C>G (p.Ser83Trp)	gnomAD v4
20	g.3083051G>T	CA408061620	AVP	c.248C>A (p.Ser83Ter)	gnomAD v4
20	g.3083052A>C	CA408061622	AVP	c.247T>G (p.Ser83Ala)
20	g.3083052A>G	CA408061623	AVP	c.247T>C (p.Ser83Pro)	gnomAD v4
20	g.3083052A>T	CA408061624	AVP	c.247T>A (p.Ser83Thr)
20	g.3083053C>A	CA509554669	AVP	c.246G>T (p.Pro82=)	gnomAD v4
20	g.3083053C>G	CA509554667	AVP	c.246G>C (p.Pro82=)	gnomAD v4
20	g.3083053C>T	CA509554665	AVP	c.246G>A (p.Pro82=)	gnomAD v4
20	g.3083054G>A	CA9739453	AVP	c.245C>T (p.Pro82Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083054G>C	CA408061625	AVP	c.245C>G (p.Pro82Arg)	gnomAD v4
20	g.3083054G=	CA2346405558	AVP	c.245C= (p.Pro82=)
20	g.3083054G>T	CA408061626	AVP	c.245C>A (p.Pro82Gln)	gnomAD v4
20	g.3083055G>A	CA408061627	AVP	c.244C>T (p.Pro82Ser)	dbSNP gnomAD v4
20	g.3083055G>C	CA408061628	AVP	c.244C>G (p.Pro82Ala)
20	g.3083055G=	CA2346405559	AVP	c.244C= (p.Pro82=)
20	g.3083055G>T	CA408061629	AVP	c.244C>A (p.Pro82Thr)	gnomAD v4
20	g.3083056C>A	CA509554671	AVP	c.243G>T (p.Leu81=)	gnomAD v4
20	g.3083056C>G	CA509554673	AVP	c.243G>C (p.Leu81=)
20	g.3083056C>T	CA509554672	AVP	c.243G>A (p.Leu81=)
20	g.3083057del	CA2651674845	AVP	c.242del (p.Leu81ArgfsTer?)	gnomAD v4
20	g.3083057A>C	CA408061632	AVP	c.242T>G (p.Leu81Arg)
20	g.3083057A>G	CA408061631	AVP	c.242T>C (p.Leu81Pro)	gnomAD v4
20	g.3083057A>T	CA408061630	AVP	c.242T>A (p.Leu81Gln)
20	g.3083058G>A	CA509554675	AVP	c.241C>T (p.Leu81=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083058G>C	CA408061633	AVP	c.241C>G (p.Leu81Val)	dbSNP
20	g.3083058G=	CA2346405560	AVP	c.241C= (p.Leu81=)
20	g.3083058G>T	CA408061634	AVP	c.241C>A (p.Leu81Met)	gnomAD v4
20	g.3083059G>A	CA509554676	AVP	c.240C>T (p.Tyr80=)	ClinVar dbSNP
20	g.3083059G>C	CA408061635	AVP	c.240C>G (p.Tyr80Ter)
20	g.3083059G=	CA2346405561	AVP	c.240C= (p.Tyr80=)
20	g.3083059G>T	CA408061636	AVP	c.240C>A (p.Tyr80Ter)	gnomAD v4
20	g.3083060T>A	CA408061637	AVP	c.239A>T (p.Tyr80Phe)
20	g.3083060T>C	CA408061638	AVP	c.239A>G (p.Tyr80Cys)	gnomAD v4
20	g.3083060T>G	CA408061639	AVP	c.239A>C (p.Tyr80Ser)	dbSNP gnomAD v4
20	g.3083061A>C	CA408061640	AVP	c.238T>G (p.Tyr80Asp)
20	g.3083061A>G	CA408061641	AVP	c.238T>C (p.Tyr80His)	gnomAD v4
20	g.3083061A>T	CA408061642	AVP	c.238T>A (p.Tyr80Asn)
20	g.3083062G>A	CA509554683	AVP	c.237C>T (p.Asn79=)	gnomAD v4 COSMIC
20	g.3083062G>C	CA408061643	AVP	c.237C>G (p.Asn79Lys)	dbSNP
20	g.3083062G=	CA2346405562	AVP	c.237C= (p.Asn79=)
20	g.3083062G>T	CA408061644	AVP	c.237C>A (p.Asn79Lys)	gnomAD v4
20	g.3083063T>A	CA408061646	AVP	c.236A>T (p.Asn79Ile)
20	g.3083063T>C	CA408061647	AVP	c.236A>G (p.Asn79Ser)	gnomAD v4
20	g.3083063T>G	CA408061645	AVP	c.236A>C (p.Asn79Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083063T=	CA2346405563	AVP	c.236A= (p.Asn79=)
20	g.3083063_3083064del	CA2557952386	AVP	c.235_236del (p.Asn79LeufsTer?)
20	g.3083064T>A	CA408061648	AVP	c.235A>T (p.Asn79Tyr)
20	g.3083064T>C	CA408061649	AVP	c.235A>G (p.Asn79Asp)
20	g.3083064T>G	CA408061650	AVP	c.235A>C (p.Asn79His)
20	g.3083064_3083067delinsTCTC	CA2346405564	AVP	c.232_235delinsGAGA (p.Glu78=)
20	g.3083065C>A	CA408061651	AVP	c.234G>T (p.Glu78Asp)	gnomAD v4
20	g.3083065C>G	CA408061652	AVP	c.234G>C (p.Glu78Asp)	gnomAD v4
20	g.3083065C>T	CA509554685	AVP	c.234G>A (p.Glu78=)	gnomAD v4
20	g.3083065_3083066insGCAGC	CA2545975070	AVP	c.234_235insCTGCG (p.Asn79LeufsTer?)
20	g.3083070_3083072del	CA2346405565	AVP	c.232_234del (p.Glu78del)	ClinVar dbSNP gnomAD v4
20	g.3083066del	CA2651674846	AVP	c.233del (p.Glu78GlyfsTer?)	gnomAD v4
20	g.3083066T>A	CA408061653	AVP	c.233A>T (p.Glu78Val)	gnomAD v4
20	g.3083066T>C	CA408061654	AVP	c.233A>G (p.Glu78Gly)	gnomAD v4
20	g.3083066T>G	CA408061655	AVP	c.233A>C (p.Glu78Ala)
20	g.3083067C>A	CA408061656	AVP	c.232G>T (p.Glu78Ter)	gnomAD v4
20	g.3083067C>G	CA408061657	AVP	c.232G>C (p.Glu78Gln)	gnomAD v4
20	g.3083067C>T	CA408061658	AVP	c.232G>A (p.Glu78Lys)
20	g.3083068C>A	CA408061659	AVP	c.231G>T (p.Glu77Asp)	gnomAD v4
20	g.3083068C=	CA2346405566	AVP	c.231G= (p.Glu77=)
20	g.3083068C>G	CA310943273	AVP	c.231G>C (p.Glu77Asp)	dbSNP gnomAD v3 gnomAD v4
20	g.3083068C>T	CA509554689	AVP	c.231G>A (p.Glu77=)
20	g.3083069T>A	CA9739454	AVP	c.230A>T (p.Glu77Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20	g.3083069T>C	CA408061661	AVP	c.230A>G (p.Glu77Gly)	gnomAD v4
20	g.3083069T>G	CA408061660	AVP	c.230A>C (p.Glu77Ala)
20	g.3083069T=	CA2346405567	AVP	c.230A= (p.Glu77=)
20	g.3083070C>A	CA408061662	AVP	c.229G>T (p.Glu77Ter)	gnomAD v4
20	g.3083070C>G	CA408061663	AVP	c.229G>C (p.Glu77Gln)
20	g.3083070C>T	CA408061664	AVP	c.229G>A (p.Glu77Lys)	gnomAD v4
20	g.3083071del	CA2815070603	AVP	c.229del (p.Glu77ArgfsTer?)
20	g.3083071C>A	CA408061665	AVP	c.228G>T (p.Gln76His)	gnomAD v4
20	g.3083071C>G	CA408061666	AVP	c.228G>C (p.Gln76His)
20	g.3083071C>T	CA509554692	AVP	c.228G>A (p.Gln76=)	gnomAD v4
20	g.3083072T>A	CA408061667	AVP	c.227A>T (p.Gln76Leu)
20	g.3083072T>C	CA408061668	AVP	c.227A>G (p.Gln76Arg)	gnomAD v4
20	g.3083072T>G	CA408061669	AVP	c.227A>C (p.Gln76Pro)	dbSNP gnomAD v2 gnomAD v4
20	g.3083072T=	CA2346405568	AVP	c.227A= (p.Gln76=)

Number of alleles fetched