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.219418594C>A	CA2125031	DES	c.132C>A (p.Gly44=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418594C=	CA1329209879	DES	c.132C= (p.Gly44=)
2	g.219418594C>G	CA431427506	DES	c.132C>G (p.Gly44=)
2	g.219418594C>T	CA2125030	DES	c.132C>T (p.Gly44=)	dbSNP ExAC gnomAD v2
2	g.219418595T>A	CA350683210	DES	c.133T>A (p.Ser45Thr)
2	g.219418595T>C	CA350683201	DES	c.133T>C (p.Ser45Pro)
2	g.219418595T>G	CA350683203	DES	c.133T>G (p.Ser45Ala)
2	g.219418596C>A	CA350683216	DES	c.134C>A (p.Ser45Tyr)	gnomAD v4
2	g.219418596C=	CA1329209880	DES	c.134C= (p.Ser45=)
2	g.219418596C>G	CA350683219	DES	c.134C>G (p.Ser45Cys)
2	g.219418596C>T	CA350683243	DES	c.134C>T (p.Ser45Phe)	dbSNP
2	g.219418597C>A	CA431427509	DES	c.135C>A (p.Ser45=)
2	g.219418597C=	CA1329209881	DES	c.135C= (p.Ser45=)
2	g.219418597C>G	CA431427510	DES	c.135C>G (p.Ser45=)	gnomAD v4
2	g.219418597C>T	CA431427512	DES	c.135C>T (p.Ser45=)	dbSNP gnomAD v4
2	g.219418598T>A	CA350683250	DES	c.136T>A (p.Ser46Thr)
2	g.219418598T>C	CA350683255	DES	c.136T>C (p.Ser46Pro)
2	g.219418598T>G	CA350683259	DES	c.136T>G (p.Ser46Ala)
2	g.219418599C>A	CA217053	DES	c.137C>A (p.Ser46Tyr)	ClinVar dbSNP gnomAD v4
2	g.219418599C=	CA1329209882	DES	c.137C= (p.Ser46=)
2	g.219418599C>G	CA350683275	DES	c.137C>G (p.Ser46Cys)	dbSNP gnomAD v4
2	g.219418599C>T	CA217055	DES	c.137C>T (p.Ser46Phe)	ClinVar dbSNP
2	g.219418600C>A	CA431427515	DES	c.138C>A (p.Ser46=)	ClinVar gnomAD v4
2	g.219418600C=	CA1329209883	DES	c.138C= (p.Ser46=)
2	g.219418600C>G	CA431427517	DES	c.138C>G (p.Ser46=)	dbSNP
2	g.219418600C>T	CA431427519	DES	c.138C>T (p.Ser46=)
2	g.219418601A=	CA1329209884	DES	c.139A= (p.Ser47=)
2	g.219418601A>C	CA350683288	DES	c.139A>C (p.Ser47Arg)
2	g.219418601A>G	CA65980788	DES	c.139A>G (p.Ser47Gly)	dbSNP
2	g.219418601A>T	CA350683283	DES	c.139A>T (p.Ser47Cys)
2	g.219418602G>A	CA350683303	DES	c.140G>A (p.Ser47Asn)
2	g.219418602G>C	CA350683309	DES	c.140G>C (p.Ser47Thr)
2	g.219418602G>T	CA350683312	DES	c.140G>T (p.Ser47Ile)	ClinVar dbSNP
2	g.219418603C>A	CA2125032	DES	c.141C>A (p.Ser47Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418603C=	CA1329209885	DES	c.141C= (p.Ser47=)
2	g.219418603C>G	CA350683339	DES	c.141C>G (p.Ser47Arg)
2	g.219418603C>T	CA431427524	DES	c.141C>T (p.Ser47=)
2	g.219418604T>A	CA350683344	DES	c.142T>A (p.Ser48Thr)
2	g.219418604T>C	CA350683347	DES	c.142T>C (p.Ser48Pro)
2	g.219418604T>G	CA350683348	DES	c.142T>G (p.Ser48Ala)
2	g.219418604_219418608del	CA2663249089	DES	c.142_146del (p.Ser48AspfsTer?)	gnomAD v4
2	g.219418605C>A	CA350683352	DES	c.143C>A (p.Ser48Ter)	gnomAD v4
2	g.219418605C>G	CA350683353	DES	c.143C>G (p.Ser48Trp)
2	g.219418605C>T	CA350683357	DES	c.143C>T (p.Ser48Leu)	gnomAD v4
2	g.219418606G>A	CA431427528	DES	c.144G>A (p.Ser48=)	ClinVar dbSNP gnomAD v4
2	g.219418606G>C	CA431427530	DES	c.144G>C (p.Ser48=)
2	g.219418606G=	CA1329209886	DES	c.144G= (p.Ser48=)
2	g.219418606G>T	CA431427531	DES	c.144G>T (p.Ser48=)	gnomAD v4
2	g.219418607G>A	CA350683367	DES	c.145G>A (p.Val49Met)	dbSNP gnomAD v2 gnomAD v4
2	g.219418607G>C	CA350683360	DES	c.145G>C (p.Val49Leu)
2	g.219418607G=	CA1329209887	DES	c.145G= (p.Val49=)
2	g.219418607G>T	CA350683362	DES	c.145G>T (p.Val49Leu)
2	g.219418608T>A	CA350683373	DES	c.146T>A (p.Val49Glu)
2	g.219418608T>C	CA308287	DES	c.146T>C (p.Val49Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418608T>G	CA350683393	DES	c.146T>G (p.Val49Gly)
2	g.219418608T=	CA1329209888	DES	c.146T= (p.Val49=)
2	g.219418609G>A	CA431427534	DES	c.147G>A (p.Val49=)
2	g.219418609G>C	CA431427537	DES	c.147G>C (p.Val49=)	gnomAD v4
2	g.219418609G>T	CA431427536	DES	c.147G>T (p.Val49=)
2	g.219418610A=	CA1329209889	DES	c.148A= (p.Thr50=)
2	g.219418610A>C	CA350683394	DES	c.148A>C (p.Thr50Pro)
2	g.219418610A>G	CA350683395	DES	c.148A>G (p.Thr50Ala)
2	g.219418610A>T	CA2125033	DES	c.148A>T (p.Thr50Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418611C>A	CA350683396	DES	c.149C>A (p.Thr50Lys)	gnomAD v4
2	g.219418611C>G	CA350683397	DES	c.149C>G (p.Thr50Arg)
2	g.219418611C>T	CA350683398	DES	c.149C>T (p.Thr50Met)	gnomAD v4
2	g.219418612G>A	CA431427539	DES	c.150G>A (p.Thr50=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418612G>C	CA431427540	DES	c.150G>C (p.Thr50=)
2	g.219418612G=	CA1329209890	DES	c.150G= (p.Thr50=)
2	g.219418612G>T	CA431427542	DES	c.150G>T (p.Thr50=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418613T>A	CA350683400	DES	c.151T>A (p.Ser51Thr)
2	g.219418613T>C	CA350683402	DES	c.151T>C (p.Ser51Pro)
2	g.219418613T>G	CA350683403	DES	c.151T>G (p.Ser51Ala)
2	g.219418614C>A	CA350683415	DES	c.152C>A (p.Ser51Tyr)
2	g.219418614C>G	CA350683418	DES	c.152C>G (p.Ser51Cys)
2	g.219418614C>T	CA350683406	DES	c.152C>T (p.Ser51Phe)
2	g.219418615C>A	CA431427548	DES	c.153C>A (p.Ser51=)	gnomAD v4
2	g.219418615C>G	CA431427550	DES	c.153C>G (p.Ser51=)
2	g.219418615C>T	CA431427549	DES	c.153C>T (p.Ser51=)
2	g.219418616C>A	CA308290	DES	c.154C>A (p.Arg52Ser)	ClinVar dbSNP gnomAD v4
2	g.219418616C=	CA1329209891	DES	c.154C= (p.Arg52=)
2	g.219418616C>G	CA350683421	DES	c.154C>G (p.Arg52Gly)
2	g.219418616C>T	CA350683424	DES	c.154C>T (p.Arg52Cys)	gnomAD v3 gnomAD v4
2	g.219418617G>A	CA350683426	DES	c.155G>A (p.Arg52His)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.219418617G>C	CA350683428	DES	c.155G>C (p.Arg52Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418617G=	CA1329209892	DES	c.155G= (p.Arg52=)
2	g.219418617G>T	CA350683437	DES	c.155G>T (p.Arg52Leu)	gnomAD v4
2	g.219418618C>A	CA431427553	DES	c.156C>A (p.Arg52=)	gnomAD v4
2	g.219418618C>G	CA431427554	DES	c.156C>G (p.Arg52=)
2	g.219418618C>T	CA431427555	DES	c.156C>T (p.Arg52=)	ClinVar gnomAD v4
2	g.219418619G>A	CA350683452	DES	c.157G>A (p.Val53Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219418619G>C	CA350683447	DES	c.157G>C (p.Val53Leu)
2	g.219418619G=	CA1329209893	DES	c.157G= (p.Val53=)
2	g.219418619G>T	CA350683443	DES	c.157G>T (p.Val53Leu)	ClinVar dbSNP gnomAD v4
2	g.219418620T>A	CA350683457	DES	c.158T>A (p.Val53Glu)
2	g.219418620T>C	CA350683459	DES	c.158T>C (p.Val53Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418620T>G	CA350683472	DES	c.158T>G (p.Val53Gly)
2	g.219418620T=	CA1329209894	DES	c.158T= (p.Val53=)
2	g.219418621G>A	CA431427564	DES	c.159G>A (p.Val53=)	gnomAD v4
2	g.219418621G>C	CA431427565	DES	c.159G>C (p.Val53=)	gnomAD v4
2	g.219418621G=	CA1329209895	DES	c.159G= (p.Val53=)
2	g.219418621G>T	CA431427566	DES	c.159G>T (p.Val53=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418622T>A	CA350683476	DES	c.160T>A (p.Tyr54Asn)
2	g.219418622T>C	CA350683483	DES	c.160T>C (p.Tyr54His)
2	g.219418622T>G	CA350683486	DES	c.160T>G (p.Tyr54Asp)
2	g.219418623A>C	CA350683492	DES	c.161A>C (p.Tyr54Ser)
2	g.219418623A>G	CA350683501	DES	c.161A>G (p.Tyr54Cys)
2	g.219418623A>T	CA350683495	DES	c.161A>T (p.Tyr54Phe)
2	g.219418624C>A	CA350683505	DES	c.162C>A (p.Tyr54Ter)	dbSNP gnomAD v4
2	g.219418624C=	CA1329209896	DES	c.162C= (p.Tyr54=)
2	g.219418624C>G	CA16616729	DES	c.162C>G (p.Tyr54Ter)	gnomAD v4
2	g.219418624C>T	CA431427569	DES	c.162C>T (p.Tyr54=)
2	g.219418625C>A	CA350683509	DES	c.163C>A (p.Gln55Lys)	dbSNP gnomAD v4
2	g.219418625C=	CA1329209897	DES	c.163C= (p.Gln55=)
2	g.219418625C>G	CA350683511	DES	c.163C>G (p.Gln55Glu)
2	g.219418625C>T	CA350683513	DES	c.163C>T (p.Gln55Ter)	ClinVar gnomAD v4
2	g.219418626A>C	CA350683515	DES	c.164A>C (p.Gln55Pro)
2	g.219418626A>G	CA350683520	DES	c.164A>G (p.Gln55Arg)
2	g.219418626A>T	CA350683524	DES	c.164A>T (p.Gln55Leu)	ClinVar gnomAD v4
2	g.219418627G>A	CA431427574	DES	c.165G>A (p.Gln55=)	dbSNP
2	g.219418627G>C	CA350683526	DES	c.165G>C (p.Gln55His)	dbSNP gnomAD v2 gnomAD v4
2	g.219418627G=	CA1329209898	DES	c.165G= (p.Gln55=)
2	g.219418627G>T	CA350683529	DES	c.165G>T (p.Gln55His)	gnomAD v4
2	g.219418628G>A	CA350683538	DES	c.166G>A (p.Val56Met)
2	g.219418628G>C	CA308293	DES	c.166G>C (p.Val56Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418628G=	CA1329209899	DES	c.166G= (p.Val56=)
2	g.219418628G>T	CA350683533	DES	c.166G>T (p.Val56Leu)	ClinVar gnomAD v4
2	g.219418629T>A	CA350683551	DES	c.167T>A (p.Val56Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418629T>C	CA350683554	DES	c.167T>C (p.Val56Ala)	gnomAD v4
2	g.219418629T>G	CA350683560	DES	c.167T>G (p.Val56Gly)
2	g.219418629T=	CA1329209900	DES	c.167T= (p.Val56=)
2	g.219418630G>A	CA2125034	DES	c.168G>A (p.Val56=)	dbSNP ExAC gnomAD v4
2	g.219418630G>C	CA431427581	DES	c.168G>C (p.Val56=)
2	g.219418630G=	CA1329209901	DES	c.168G= (p.Val56=)
2	g.219418630G>T	CA431427583	DES	c.168G>T (p.Val56=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418631T>A	CA350683564	DES	c.169T>A (p.Ser57Thr)
2	g.219418631T>C	CA350683565	DES	c.169T>C (p.Ser57Pro)	gnomAD v4
2	g.219418631T>G	CA350683573	DES	c.169T>G (p.Ser57Ala)
2	g.219418632C>A	CA350683578	DES	c.170C>A (p.Ser57Ter)
2	g.219418632C=	CA1329209902	DES	c.170C= (p.Ser57=)
2	g.219418632C>G	CA350683579	DES	c.170C>G (p.Ser57Trp)	dbSNP
2	g.219418632C>T	CA133832	DES	c.170C>T (p.Ser57Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418633G>A	CA431427592	DES	c.171G>A (p.Ser57=)	gnomAD v4
2	g.219418633G>C	CA431427594	DES	c.171G>C (p.Ser57=)	dbSNP
2	g.219418633G=	CA1329209903	DES	c.171G= (p.Ser57=)
2	g.219418633G>T	CA431427595	DES	c.171G>T (p.Ser57=)	ClinVar gnomAD v4
2	g.219418633dup	CA2586971376	DES	c.171dup (p.Arg58AlafsTer?)
2	g.219418634C>A	CA350683594	DES	c.172C>A (p.Arg58Ser)	gnomAD v4
2	g.219418634C>G	CA350683605	DES	c.172C>G (p.Arg58Gly)
2	g.219418634C>T	CA350683608	DES	c.172C>T (p.Arg58Cys)	ClinVar gnomAD v4
2	g.219418635G>A	CA350683633	DES	c.173G>A (p.Arg58His)	gnomAD v4
2	g.219418635G>C	CA350683613	DES	c.173G>C (p.Arg58Pro)
2	g.219418635G>T	CA350683631	DES	c.173G>T (p.Arg58Leu)	ClinVar gnomAD v4 COSMIC
2	g.219418636C>A	CA431427609	DES	c.174C>A (p.Arg58=)	gnomAD v4
2	g.219418636C>G	CA431427612	DES	c.174C>G (p.Arg58=)
2	g.219418636C>T	CA431427614	DES	c.174C>T (p.Arg58=)
2	g.219418637A=	CA1329209904	DES	c.175A= (p.Thr59=)
2	g.219418637A>C	CA350683637	DES	c.175A>C (p.Thr59Pro)
2	g.219418637A>G	CA350683641	DES	c.175A>G (p.Thr59Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418637A>T	CA350683643	DES	c.175A>T (p.Thr59Ser)
2	g.219418638C>A	CA350683645	DES	c.176C>A (p.Thr59Lys)	gnomAD v4
2	g.219418638C=	CA1329209905	DES	c.176C= (p.Thr59=)
2	g.219418638C>G	CA350683652	DES	c.176C>G (p.Thr59Arg)
2	g.219418638C>T	CA2125035	DES	c.176C>T (p.Thr59Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.219418639G>A	CA431427622	DES	c.177G>A (p.Thr59=)
2	g.219418639G>C	CA431427624	DES	c.177G>C (p.Thr59=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418639G=	CA1329209906	DES	c.177G= (p.Thr59=)
2	g.219418639G>T	CA431427625	DES	c.177G>T (p.Thr59=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418640T>A	CA350683663	DES	c.178T>A (p.Ser60Thr)
2	g.219418640T>C	CA350683667	DES	c.178T>C (p.Ser60Pro)
2	g.219418640T>G	CA350683670	DES	c.178T>G (p.Ser60Ala)	ClinVar dbSNP
2	g.219418641C>A	CA350683672	DES	c.179C>A (p.Ser60Ter)	gnomAD v4
2	g.219418641C=	CA1329209907	DES	c.179C= (p.Ser60=)
2	g.219418641C>G	CA350683673	DES	c.179C>G (p.Ser60Trp)
2	g.219418641C>T	CA65980872	DES	c.179C>T (p.Ser60Leu)	ClinVar dbSNP gnomAD v4
2	g.219418642G>A	CA431427630	DES	c.180G>A (p.Ser60=)	gnomAD v4
2	g.219418642G>C	CA431427631	DES	c.180G>C (p.Ser60=)
2	g.219418642G>T	CA431427632	DES	c.180G>T (p.Ser60=)	gnomAD v4
2	g.219418643G>A	CA350683688	DES	c.181G>A (p.Gly61Ser)
2	g.219418643G>C	CA350683691	DES	c.181G>C (p.Gly61Arg)
2	g.219418643G>T	CA350683686	DES	c.181G>T (p.Gly61Cys)
2	g.219418644G>A	CA350683705	DES	c.182G>A (p.Gly61Asp)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418644G>C	CA350683696	DES	c.182G>C (p.Gly61Ala)
2	g.219418644G=	CA1329209908	DES	c.182G= (p.Gly61=)
2	g.219418644G>T	CA350683699	DES	c.182G>T (p.Gly61Val)	gnomAD v4 COSMIC
2	g.219418645C>A	CA65980891	DES	c.183C>A (p.Gly61=)	dbSNP gnomAD v4
2	g.219418645C=	CA1329209909	DES	c.183C= (p.Gly61=)
2	g.219418645C>G	CA431427642	DES	c.183C>G (p.Gly61=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418645C>T	CA431427641	DES	c.183C>T (p.Gly61=)	gnomAD v4 COSMIC
2	g.219418646G>A	CA10606335	DES	c.184G>A (p.Gly62Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219418646G>C	CA350683709	DES	c.184G>C (p.Gly62Arg)
2	g.219418646G=	CA1329209910	DES	c.184G= (p.Gly62=)
2	g.219418646G>T	CA350683729	DES	c.184G>T (p.Gly62Trp)	gnomAD v4
2	g.219418649del	CA2663249254	DES	c.187del (p.Ala63ProfsTer?)	gnomAD v4
2	g.219418647G>A	CA2125036	DES	c.185G>A (p.Gly62Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418647G>C	CA350683735	DES	c.185G>C (p.Gly62Ala)	gnomAD v4
2	g.219418647G=	CA1329209911	DES	c.185G= (p.Gly62=)
2	g.219418647G>T	CA350683731	DES	c.185G>T (p.Gly62Val)
2	g.219418648G>A	CA431427650	DES	c.186G>A (p.Gly62=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418648G>C	CA431427651	DES	c.186G>C (p.Gly62=)
2	g.219418648G=	CA1329209912	DES	c.186G= (p.Gly62=)
2	g.219418648G>T	CA431427652	DES	c.186G>T (p.Gly62=)	ClinVar dbSNP
2	g.219418649G>A	CA350683736	DES	c.187G>A (p.Ala63Thr)	gnomAD v4
2	g.219418649G>C	CA350683739	DES	c.187G>C (p.Ala63Pro)
2	g.219418649G>T	CA350683740	DES	c.187G>T (p.Ala63Ser)	gnomAD v4
2	g.219418650C>A	CA350683744	DES	c.188C>A (p.Ala63Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418650C=	CA1329209913	DES	c.188C= (p.Ala63=)
2	g.219418650C>G	CA350683758	DES	c.188C>G (p.Ala63Gly)
2	g.219418650C>T	CA350683763	DES	c.188C>T (p.Ala63Val)	ClinVar dbSNP gnomAD v4
2	g.219418651C>A	CA431427655	DES	c.189C>A (p.Ala63=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418651C=	CA1329209914	DES	c.189C= (p.Ala63=)
2	g.219418651C>G	CA431427657	DES	c.189C>G (p.Ala63=)
2	g.219418651C>T	CA431427656	DES	c.189C>T (p.Ala63=)	gnomAD v4
2	g.219418652G>A	CA350683767	DES	c.190G>A (p.Gly64Arg)	ClinVar gnomAD v4 COSMIC
2	g.219418652G>C	CA350683770	DES	c.190G>C (p.Gly64Arg)	gnomAD v4
2	g.219418652G>T	CA350683768	DES	c.190G>T (p.Gly64Trp)	gnomAD v4
2	g.219418656dup	CA539843119	DES	c.194dup (p.Leu66ProfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418656del	CA2663249295	DES	c.194del (p.Gly65AlafsTer?)	gnomAD v4
2	g.219418653G>A	CA350683775	DES	c.191G>A (p.Gly64Glu)
2	g.219418653G>C	CA350683778	DES	c.191G>C (p.Gly64Ala)
2	g.219418653G>T	CA350683782	DES	c.191G>T (p.Gly64Val)
2	g.219418657_219418663del	CA2663249309	DES	c.195_201del (p.Leu66ArgfsTer?)	gnomAD v4
2	g.219418654G>A	CA431427660	DES	c.192G>A (p.Gly64=)	gnomAD v4 COSMIC
2	g.219418654G>C	CA431427664	DES	c.192G>C (p.Gly64=)	gnomAD v4
2	g.219418654G>T	CA431427662	DES	c.192G>T (p.Gly64=)	gnomAD v4
2	g.219418655G>A	CA133838	DES	c.193G>A (p.Gly65Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219418655G>C	CA350683783	DES	c.193G>C (p.Gly65Arg)	ClinVar
2	g.219418655G=	CA1329209915	DES	c.193G= (p.Gly65=)
2	g.219418655G>T	CA350683786	DES	c.193G>T (p.Gly65Cys)	dbSNP gnomAD v2 gnomAD v4
2	g.219418656G>A	CA350683794	DES	c.194G>A (p.Gly65Asp)	gnomAD v4 COSMIC
2	g.219418656G>C	CA350683795	DES	c.194G>C (p.Gly65Ala)	gnomAD v4
2	g.219418656G>T	CA350683796	DES	c.194G>T (p.Gly65Val)
2	g.219418657C>A	CA431427668	DES	c.195C>A (p.Gly65=)	gnomAD v4
2	g.219418657C=	CA1329209916	DES	c.195C= (p.Gly65=)
2	g.219418657C>G	CA431427669	DES	c.195C>G (p.Gly65=)
2	g.219418657C>T	CA431427671	DES	c.195C>T (p.Gly65=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418658C>A	CA350683798	DES	c.196C>A (p.Leu66Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418658C=	CA1329209917	DES	c.196C= (p.Leu66=)
2	g.219418658C>G	CA350683802	DES	c.196C>G (p.Leu66Val)
2	g.219418658C>T	CA431427678	DES	c.196C>T (p.Leu66=)	gnomAD v4
2	g.219418659T>A	CA350683804	DES	c.197T>A (p.Leu66Gln)	gnomAD v4
2	g.219418659T>C	CA350683816	DES	c.197T>C (p.Leu66Pro)	gnomAD v4
2	g.219418659T>G	CA350683807	DES	c.197T>G (p.Leu66Arg)
2	g.219418660G>A	CA431427682	DES	c.198G>A (p.Leu66=)	gnomAD v4
2	g.219418660G>C	CA431427684	DES	c.198G>C (p.Leu66=)	gnomAD v4
2	g.219418660G>T	CA431427683	DES	c.198G>T (p.Leu66=)	gnomAD v4
2	g.219418663del	CA2663249374	DES	c.201del (p.Ser68ArgfsTer?)	gnomAD v4
2	g.219418661G>A	CA2125037	DES	c.199G>A (p.Gly67Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418661G>C	CA350683827	DES	c.199G>C (p.Gly67Arg)
2	g.219418661G=	CA1329209918	DES	c.199G= (p.Gly67=)
2	g.219418661G>T	CA350683832	DES	c.199G>T (p.Gly67Trp)	gnomAD v4
2	g.219418662G>A	CA350683834	DES	c.200G>A (p.Gly67Glu)
2	g.219418662G>C	CA350683839	DES	c.200G>C (p.Gly67Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.219418662G=	CA1329209919	DES	c.200G= (p.Gly67=)
2	g.219418662G>T	CA350683842	DES	c.200G>T (p.Gly67Val)	gnomAD v4
2	g.219418663G>A	CA431427692	DES	c.201G>A (p.Gly67=)
2	g.219418663G>C	CA431427694	DES	c.201G>C (p.Gly67=)
2	g.219418663G=	CA1329209920	DES	c.201G= (p.Gly67=)
2	g.219418663G>T	CA431427695	DES	c.201G>T (p.Gly67=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418664T>A	CA350683846	DES	c.202T>A (p.Ser68Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.219418664T>C	CA350683847	DES	c.202T>C (p.Ser68Pro)
2	g.219418664T>G	CA350683853	DES	c.202T>G (p.Ser68Ala)
2	g.219418664T=	CA1329209921	DES	c.202T= (p.Ser68=)
2	g.219418665C>A	CA350683858	DES	c.203C>A (p.Ser68Ter)	gnomAD v4
2	g.219418665C>G	CA350683862	DES	c.203C>G (p.Ser68Trp)
2	g.219418665C>T	CA350683867	DES	c.203C>T (p.Ser68Leu)
2	g.219418666G>A	CA431427698	DES	c.204G>A (p.Ser68=)	dbSNP gnomAD v4
2	g.219418666G>C	CA431427699	DES	c.204G>C (p.Ser68=)
2	g.219418666G=	CA1329209922	DES	c.204G= (p.Ser68=)
2	g.219418666G>T	CA431427700	DES	c.204G>T (p.Ser68=)	gnomAD v4
2	g.219418666_219418667delinsAT	CA2740096472	DES	c.204_205delinsAT (p.Ser68=)	ClinVar
2	g.219418667C>A	CA350683874	DES	c.205C>A (p.Leu69Met)	gnomAD v4
2	g.219418667C>G	CA350683873	DES	c.205C>G (p.Leu69Val)
2	g.219418667C>T	CA431427702	DES	c.205C>T (p.Leu69=)	ClinVar dbSNP
2	g.219418668T>A	CA350683876	DES	c.206T>A (p.Leu69Gln)
2	g.219418668T>C	CA350683882	DES	c.206T>C (p.Leu69Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418668T>G	CA350683884	DES	c.206T>G (p.Leu69Arg)
2	g.219418668T=	CA1329209923	DES	c.206T= (p.Leu69=)
2	g.219418669G>A	CA431427717	DES	c.207G>A (p.Leu69=)
2	g.219418669G>C	CA431427710	DES	c.207G>C (p.Leu69=)
2	g.219418669G>T	CA431427716	DES	c.207G>T (p.Leu69=)	gnomAD v4
2	g.219418670C>A	CA431427718	DES	c.208C>A (p.Arg70=)	gnomAD v4
2	g.219418670C>G	CA350683886	DES	c.208C>G (p.Arg70Gly)	gnomAD v4
2	g.219418670C>T	CA350683890	DES	c.208C>T (p.Arg70Trp)	ClinVar dbSNP gnomAD v4
2	g.219418671G>A	CA350683894	DES	c.209G>A (p.Arg70Gln)	dbSNP gnomAD v2 gnomAD v4
2	g.219418671G>C	CA16610610	DES	c.209G>C (p.Arg70Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418671G=	CA1329209924	DES	c.209G= (p.Arg70=)
2	g.219418671G>T	CA350683899	DES	c.209G>T (p.Arg70Leu)	gnomAD v4
2	g.219418673del	CA2754326382	DES	c.211del (p.Ala71ProfsTer27)
2	g.219418673_219418687dup	CA2506678581	DES	c.211_225dup (p.Gly75_Thr76insAlaSerArgLeuGly)	gnomAD v4
2	g.219418672G>A	CA16610717	DES	c.210G>A (p.Arg70=)	ClinVar dbSNP
2	g.219418672G>C	CA10604110	DES	c.210G>C (p.Arg70=)	ClinVar dbSNP gnomAD v4
2	g.219418672G=	CA1329209925	DES	c.210G= (p.Arg70=)
2	g.219418672G>T	CA431427726	DES	c.210G>T (p.Arg70=)	gnomAD v4
2	g.219418673G>A	CA350683931	DES	c.211G>A (p.Ala71Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.219418673G>C	CA350683934	DES	c.211G>C (p.Ala71Pro)	gnomAD v4
2	g.219418673G=	CA1329209926	DES	c.211G= (p.Ala71=)
2	g.219418673G>T	CA350683936	DES	c.211G>T (p.Ala71Ser)	ClinVar gnomAD v4
2	g.219418674C>A	CA350683950	DES	c.212C>A (p.Ala71Asp)	gnomAD v4
2	g.219418674C=	CA1329209927	DES	c.212C= (p.Ala71=)
2	g.219418674C>G	CA350683954	DES	c.212C>G (p.Ala71Gly)	dbSNP gnomAD v4
2	g.219418674C>T	CA068076	DES	c.212C>T (p.Ala71Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418675C>A	CA431427739	DES	c.213C>A (p.Ala71=)
2	g.219418675C>G	CA431427737	DES	c.213C>G (p.Ala71=)
2	g.219418675C>T	CA431427738	DES	c.213C>T (p.Ala71=)	ClinVar gnomAD v4
2	g.219418676A>C	CA350683968	DES	c.214A>C (p.Ser72Arg)
2	g.219418676A>G	CA350683960	DES	c.214A>G (p.Ser72Gly)	gnomAD v4
2	g.219418676A>T	CA350683965	DES	c.214A>T (p.Ser72Cys)
2	g.219418677G>A	CA350683982	DES	c.215G>A (p.Ser72Asn)	gnomAD v4
2	g.219418677G>C	CA350683999	DES	c.215G>C (p.Ser72Thr)
2	g.219418677G>T	CA350684003	DES	c.215G>T (p.Ser72Ile)	gnomAD v4
2	g.219418678C>A	CA238726	DES	c.216C>A (p.Ser72Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418678C=	CA1329209928	DES	c.216C= (p.Ser72=)
2	g.219418678C>G	CA350684020	DES	c.216C>G (p.Ser72Arg)
2	g.219418678C>T	CA431427748	DES	c.216C>T (p.Ser72=)	gnomAD v4
2	g.219418679C>A	CA431427754	DES	c.217C>A (p.Arg73=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418679C=	CA1329209929	DES	c.217C= (p.Arg73=)
2	g.219418679C>G	CA350684039	DES	c.217C>G (p.Arg73Gly)
2	g.219418679C>T	CA350684042	DES	c.217C>T (p.Arg73Trp)	dbSNP gnomAD v4
2	g.219418680G>A	CA2125038	DES	c.218G>A (p.Arg73Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418680G>C	CA350684064	DES	c.218G>C (p.Arg73Pro)
2	g.219418680G=	CA1329209930	DES	c.218G= (p.Arg73=)
2	g.219418680G>T	CA10581946	DES	c.218G>T (p.Arg73Leu)	ClinVar dbSNP
2	g.219418681G>A	CA431427764	DES	c.219G>A (p.Arg73=)	ClinVar gnomAD v4
2	g.219418681G>C	CA431427766	DES	c.219G>C (p.Arg73=)
2	g.219418681G>T	CA431427767	DES	c.219G>T (p.Arg73=)	gnomAD v4
2	g.219418682C>A	CA350684067	DES	c.220C>A (p.Leu74Met)	gnomAD v4
2	g.219418682C>G	CA350684069	DES	c.220C>G (p.Leu74Val)
2	g.219418682C>T	CA431427770	DES	c.220C>T (p.Leu74=)
2	g.219418683T>A	CA350684075	DES	c.221T>A (p.Leu74Gln)	ClinVar dbSNP gnomAD v4
2	g.219418683T>C	CA350684097	DES	c.221T>C (p.Leu74Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418683T>G	CA350684086	DES	c.221T>G (p.Leu74Arg)
2	g.219418683T=	CA1329209931	DES	c.221T= (p.Leu74=)
2	g.219418684G>A	CA431427772	DES	c.222G>A (p.Leu74=)	gnomAD v4
2	g.219418684G>C	CA431427773	DES	c.222G>C (p.Leu74=)
2	g.219418684G>T	CA431427775	DES	c.222G>T (p.Leu74=)	gnomAD v4
2	g.219418685G>A	CA350684110	DES	c.223G>A (p.Gly75Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.219418685G>C	CA350684114	DES	c.223G>C (p.Gly75Arg)
2	g.219418685G=	CA1329209932	DES	c.223G= (p.Gly75=)
2	g.219418685G>T	CA350684119	DES	c.223G>T (p.Gly75Trp)	gnomAD v4
2	g.219418686G>A	CA2125039	DES	c.224G>A (p.Gly75Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418686G>C	CA350684134	DES	c.224G>C (p.Gly75Ala)
2	g.219418686G=	CA1329209933	DES	c.224G= (p.Gly75=)
2	g.219418686G>T	CA350684139	DES	c.224G>T (p.Gly75Val)	gnomAD v4
2	g.219418687G>A	CA2125041	DES	c.225G>A (p.Gly75=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418687G>C	CA2125040	DES	c.225G>C (p.Gly75=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418687G=	CA1329209934	DES	c.225G= (p.Gly75=)
2	g.219418687G>T	CA431427787	DES	c.225G>T (p.Gly75=)	gnomAD v4
2	g.219418687_219418688delinsGA	CA1329209935	DES	c.225_226delinsGA (p.Gly75=)
2	g.219418688del	CA16616730	DES	c.226del (p.Thr76ProfsTer22)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418688A>C	CA350684141	DES	c.226A>C (p.Thr76Pro)
2	g.219418688A>G	CA350684146	DES	c.226A>G (p.Thr76Ala)
2	g.219418688A>T	CA350684152	DES	c.226A>T (p.Thr76Ser)	dbSNP
2	g.219418691_219418693del	CA2513286435	DES	c.229_231del (p.Thr77del)	ClinVar
2	g.219418689C>A	CA350684175	DES	c.227C>A (p.Thr76Asn)	gnomAD v4
2	g.219418689C=	CA1329209936	DES	c.227C= (p.Thr76=)
2	g.219418689C>G	CA350684172	DES	c.227C>G (p.Thr76Ser)
2	g.219418689C>T	CA2125042	DES	c.227C>T (p.Thr76Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418690del	CA2663249560	DES	c.228del (p.Thr77ProfsTer21)	gnomAD v4
2	g.219418690C>A	CA431427799	DES	c.228C>A (p.Thr76=)	gnomAD v4
2	g.219418690C=	CA1329209937	DES	c.228C= (p.Thr76=)
2	g.219418690C>G	CA2125043	DES	c.228C>G (p.Thr76=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418690C>T	CA2125044	DES	c.228C>T (p.Thr76=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418691A=	CA1329209939	DES	c.229A= (p.Thr77=)
2	g.219418691A>C	CA350684212	DES	c.229A>C (p.Thr77Pro)	dbSNP gnomAD v3 gnomAD v4
2	g.219418691A>G	CA2125045	DES	c.229A>G (p.Thr77Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418691A>T	CA350684219	DES	c.229A>T (p.Thr77Ser)
2	g.219418691_219418693delinsACC	CA1329209938	DES	c.229_231delinsACC (p.Thr77=)
2	g.219418692C>A	CA350684228	DES	c.230C>A (p.Thr77Asn)	gnomAD v4
2	g.219418692C=	CA1329209941	DES	c.230C= (p.Thr77=)
2	g.219418692C>G	CA350684239	DES	c.230C>G (p.Thr77Ser)
2	g.219418692C>T	CA350684245	DES	c.230C>T (p.Thr77Ile)	ClinVar dbSNP gnomAD v4
2	g.219418693_219418694del	CA1329209940	DES	c.231_232del (p.Arg78HisfsTer?)	dbSNP
2	g.219418693C>A	CA431427809	DES	c.231C>A (p.Thr77=)	ClinVar gnomAD v4
2	g.219418693C>G	CA431427811	DES	c.231C>G (p.Thr77=)
2	g.219418693C>T	CA431427812	DES	c.231C>T (p.Thr77=)	gnomAD v4
2	g.219418694C>A	CA350684254	DES	c.232C>A (p.Arg78Ser)	gnomAD v4
2	g.219418694C=	CA1329209942	DES	c.232C= (p.Arg78=)
2	g.219418694C>G	CA350684261	DES	c.232C>G (p.Arg78Gly)	gnomAD v4
2	g.219418694C>T	CA350684263	DES	c.232C>T (p.Arg78Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched