Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
20	g.3083073G>A	CA408061670	AVP	c.226C>T (p.Gln76Ter)	gnomAD v4
20	g.3083073G>C	CA9739455	AVP	c.226C>G (p.Gln76Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083073G=	CA2346405569	AVP	c.226C= (p.Gln76=)
20	g.3083073G>T	CA408061671	AVP	c.226C>A (p.Gln76Lys)	gnomAD v4
20	g.3083074G>A	CA509554693	AVP	c.225C>T (p.Cys75=)	gnomAD v4
20	g.3083074G>C	CA408061672	AVP	c.225C>G (p.Cys75Trp)
20	g.3083074G>T	CA408061673	AVP	c.225C>A (p.Cys75Ter)	gnomAD v4
20	g.3083075C>A	CA408061674	AVP	c.224G>T (p.Cys75Phe)	gnomAD v4
20	g.3083075C>G	CA408061676	AVP	c.224G>C (p.Cys75Ser)
20	g.3083075C>T	CA408061675	AVP	c.224G>A (p.Cys75Tyr)	gnomAD v4
20	g.3083076A>C	CA408061677	AVP	c.223T>G (p.Cys75Gly)
20	g.3083076A>G	CA408061679	AVP	c.223T>C (p.Cys75Arg)	gnomAD v4
20	g.3083076A>T	CA408061678	AVP	c.223T>A (p.Cys75Ser)
20	g.3083077G>A	CA9739456	AVP	c.222C>T (p.Arg74=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083077G>C	CA509554696	AVP	c.222C>G (p.Arg74=)
20	g.3083077G=	CA2346405570	AVP	c.222C= (p.Arg74=)
20	g.3083077G>T	CA509554695	AVP	c.222C>A (p.Arg74=)
20	g.3083078C>A	CA408061681	AVP	c.221G>T (p.Arg74Leu)	gnomAD v4
20	g.3083078C>G	CA408061680	AVP	c.221G>C (p.Arg74Pro)
20	g.3083078C>T	CA408061682	AVP	c.221G>A (p.Arg74His)	gnomAD v4 COSMIC
20	g.3083079G>A	CA408061683	AVP	c.220C>T (p.Arg74Cys)	gnomAD v4
20	g.3083079G>C	CA408061685	AVP	c.220C>G (p.Arg74Gly)
20	g.3083079G>T	CA408061684	AVP	c.220C>A (p.Arg74Ser)	gnomAD v4
20	g.3083080C>A	CA509554698	AVP	c.219G>T (p.Leu73=)	gnomAD v4
20	g.3083080C>G	CA509554699	AVP	c.219G>C (p.Leu73=)
20	g.3083080C>T	CA509554700	AVP	c.219G>A (p.Leu73=)	gnomAD v4
20	g.3083081A>C	CA408061686	AVP	c.218T>G (p.Leu73Arg)	gnomAD v4
20	g.3083081A>G	CA408061687	AVP	c.218T>C (p.Leu73Pro)	ClinVar gnomAD v4
20	g.3083081A>T	CA408061688	AVP	c.218T>A (p.Leu73Gln)
20	g.3083082G>A	CA509554703	AVP	c.217C>T (p.Leu73=)	gnomAD v4
20	g.3083082G>C	CA408061689	AVP	c.217C>G (p.Leu73Val)
20	g.3083082G>T	CA408061690	AVP	c.217C>A (p.Leu73Met)	gnomAD v4
20	g.3083083C>A	CA509554704	AVP	c.216G>T (p.Ala72=)	gnomAD v4
20	g.3083083C>G	CA509554705	AVP	c.216G>C (p.Ala72=)
20	g.3083083C>T	CA509554706	AVP	c.216G>A (p.Ala72=)	gnomAD v4
20	g.3083084G>A	CA408061691	AVP	c.215C>T (p.Ala72Val)	gnomAD v4
20	g.3083084G>C	CA408061692	AVP	c.215C>G (p.Ala72Gly)	dbSNP
20	g.3083084G=	CA2346405571	AVP	c.215C= (p.Ala72=)
20	g.3083084G>T	CA408061693	AVP	c.215C>A (p.Ala72Glu)	gnomAD v4
20	g.3083085C>A	CA408061694	AVP	c.214G>T (p.Ala72Ser)	gnomAD v4
20	g.3083085C>G	CA408061695	AVP	c.214G>C (p.Ala72Pro)
20	g.3083085C>T	CA408061696	AVP	c.214G>A (p.Ala72Thr)	gnomAD v4
20	g.3083086C>A	CA408061698	AVP	c.213G>T (p.Glu71Asp)	gnomAD v4
20	g.3083086C>G	CA408061697	AVP	c.213G>C (p.Glu71Asp)
20	g.3083086C>T	CA509554710	AVP	c.213G>A (p.Glu71=)	gnomAD v4
20	g.3083087T>A	CA408061699	AVP	c.212A>T (p.Glu71Val)
20	g.3083087T>C	CA408061700	AVP	c.212A>G (p.Glu71Gly)	gnomAD v4
20	g.3083087T>G	CA408061701	AVP	c.212A>C (p.Glu71Ala)
20	g.3083088C>A	CA408061702	AVP	c.211G>T (p.Glu71Ter)	gnomAD v4
20	g.3083088C>G	CA408061703	AVP	c.211G>C (p.Glu71Gln)
20	g.3083088C>T	CA408061704	AVP	c.211G>A (p.Glu71Lys)	gnomAD v4
20	g.3083089A>C	CA509554711	AVP	c.210T>G (p.Ala70=)
20	g.3083089A>G	CA509554712	AVP	c.210T>C (p.Ala70=)	gnomAD v4
20	g.3083089A>T	CA509554713	AVP	c.210T>A (p.Ala70=)	gnomAD v4
20	g.3083090G>A	CA408061705	AVP	c.209C>T (p.Ala70Val)	dbSNP gnomAD v3 gnomAD v4
20	g.3083090G>C	CA408061706	AVP	c.209C>G (p.Ala70Gly)
20	g.3083090G=	CA2346405572	AVP	c.209C= (p.Ala70=)
20	g.3083090G>T	CA408061707	AVP	c.209C>A (p.Ala70Asp)	gnomAD v4
20	g.3083091_3083093del	CA2695229216	AVP	c.207_209del (p.Ala70del)
20	g.3083091C>A	CA408061708	AVP	c.208G>T (p.Ala70Ser)	gnomAD v4
20	g.3083091C=	CA2346405573	AVP	c.208G= (p.Ala70=)
20	g.3083091C>G	CA408061709	AVP	c.208G>C (p.Ala70Pro)	gnomAD v4
20	g.3083091C>T	CA9739457	AVP	c.208G>A (p.Ala70Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083092C>A	CA509554714	AVP	c.207G>T (p.Thr69=)	dbSNP gnomAD v4
20	g.3083092C=	CA2346405574	AVP	c.207G= (p.Thr69=)
20	g.3083092C>G	CA9739458	AVP	c.207G>C (p.Thr69=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083092C>T	CA9739459	AVP	c.207G>A (p.Thr69=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083093G>A	CA408061710	AVP	c.206C>T (p.Thr69Met)	gnomAD v4
20	g.3083093G>C	CA408061711	AVP	c.206C>G (p.Thr69Arg)
20	g.3083093G>T	CA408061712	AVP	c.206C>A (p.Thr69Lys)	gnomAD v4
20	g.3083094T>A	CA408061713	AVP	c.205A>T (p.Thr69Ser)	dbSNP gnomAD v4
20	g.3083094T>C	CA408061714	AVP	c.205A>G (p.Thr69Ala)	gnomAD v4
20	g.3083094T>G	CA408061715	AVP	c.205A>C (p.Thr69Pro)
20	g.3083094T=	CA2346405575	AVP	c.205A= (p.Thr69=)
20	g.3083095G>A	CA509554715	AVP	c.204C>T (p.Gly68=)	gnomAD v4
20	g.3083095G>C	CA509554716	AVP	c.204C>G (p.Gly68=)
20	g.3083095G>T	CA509554717	AVP	c.204C>A (p.Gly68=)	gnomAD v4
20	g.3083096C>A	CA408061716	AVP	c.203G>T (p.Gly68Val)	gnomAD v4
20	g.3083096C>G	CA408061717	AVP	c.203G>C (p.Gly68Ala)
20	g.3083096C>T	CA408061718	AVP	c.203G>A (p.Gly68Asp)	gnomAD v4
20	g.3083097C>A	CA408061719	AVP	c.202G>T (p.Gly68Cys)	gnomAD v4
20	g.3083097C=	CA2346405576	AVP	c.202G= (p.Gly68=)
20	g.3083097C>G	CA9739460	AVP	c.202G>C (p.Gly68Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083097C>T	CA408061720	AVP	c.202G>A (p.Gly68Ser)	gnomAD v4
20	g.3083098C>A	CA509554718	AVP	c.201G>T (p.Val67=)	gnomAD v4
20	g.3083098C>G	CA509554719	AVP	c.201G>C (p.Val67=)
20	g.3083098C>T	CA509554720	AVP	c.201G>A (p.Val67=)	gnomAD v4
20	g.3083099A=	CA2346405577	AVP	c.200T= (p.Val67=)
20	g.3083099A>C	CA408061722	AVP	c.200T>G (p.Val67Gly)
20	g.3083099A>G	CA121972	AVP	c.200T>C (p.Val67Ala)	ClinVar dbSNP gnomAD v4
20	g.3083099A>T	CA408061721	AVP	c.200T>A (p.Val67Glu)	gnomAD v4
20	g.3083100C>A	CA408061723	AVP	c.199G>T (p.Val67Leu)	gnomAD v4
20	g.3083100C=	CA2346405578	AVP	c.199G= (p.Val67=)
20	g.3083100C>G	CA408061724	AVP	c.199G>C (p.Val67Leu)
20	g.3083100C>T	CA408061725	AVP	c.199G>A (p.Val67Met)	dbSNP gnomAD v4
20	g.3083101G>A	CA509554721	AVP	c.198C>T (p.Phe66=)	dbSNP gnomAD v4
20	g.3083101G>C	CA408061726	AVP	c.198C>G (p.Phe66Leu)
20	g.3083101G>T	CA408061727	AVP	c.198C>A (p.Phe66Leu)	gnomAD v4
20	g.3083102A>C	CA408061730	AVP	c.197T>G (p.Phe66Cys)
20	g.3083102A>G	CA408061728	AVP	c.197T>C (p.Phe66Ser)
20	g.3083102A>T	CA408061729	AVP	c.197T>A (p.Phe66Tyr)
20	g.3083103A>C	CA408061731	AVP	c.196T>G (p.Phe66Val)
20	g.3083103A>G	CA408061732	AVP	c.196T>C (p.Phe66Leu)	gnomAD v4
20	g.3083103A>T	CA408061733	AVP	c.196T>A (p.Phe66Ile)
20	g.3083104G>A	CA509554722	AVP	c.195C>T (p.Cys65=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083104G>C	CA408061734	AVP	c.195C>G (p.Cys65Trp)
20	g.3083104G=	CA2346405579	AVP	c.195C= (p.Cys65=)
20	g.3083104G>T	CA408061735	AVP	c.195C>A (p.Cys65Ter)	gnomAD v4
20	g.3083105C>A	CA408061738	AVP	c.194G>T (p.Cys65Phe)	gnomAD v4
20	g.3083105C>G	CA408061737	AVP	c.194G>C (p.Cys65Ser)
20	g.3083105C>T	CA408061736	AVP	c.194G>A (p.Cys65Tyr)	gnomAD v4
20	g.3083106A>C	CA408061739	AVP	c.193T>G (p.Cys65Gly)
20	g.3083106A>G	CA408061741	AVP	c.193T>C (p.Cys65Arg)	gnomAD v4
20	g.3083106A>T	CA408061740	AVP	c.193T>A (p.Cys65Ser)
20	g.3083106_3083107delinsTT	CA2695229217	AVP	c.192_193delinsAA (p.Cys65Ser)
20	g.3083107G>A	CA509554725	AVP	c.192C>T (p.Gly64=)	gnomAD v4
20	g.3083107G>C	CA509554724	AVP	c.192C>G (p.Gly64=)	gnomAD v4
20	g.3083107G>T	CA509554723	AVP	c.192C>A (p.Gly64=)	gnomAD v4
20	g.3083108C>A	CA408061742	AVP	c.191G>T (p.Gly64Val)	gnomAD v4
20	g.3083108C>G	CA408061743	AVP	c.191G>C (p.Gly64Ala)
20	g.3083108C>T	CA408061744	AVP	c.191G>A (p.Gly64Asp)	gnomAD v4
20	g.3083110del	CA2651674847	AVP	c.191del (p.Gly64AlafsTer?)	gnomAD v4
20	g.3083109C>A	CA408061745	AVP	c.190G>T (p.Gly64Cys)	gnomAD v4
20	g.3083109C=	CA2346405580	AVP	c.190G= (p.Gly64=)
20	g.3083109C>G	CA408061746	AVP	c.190G>C (p.Gly64Arg)
20	g.3083109C>T	CA408061747	AVP	c.190G>A (p.Gly64Ser)	dbSNP gnomAD v2 gnomAD v4
20	g.3083110C>A	CA509554726	AVP	c.189G>T (p.Leu63=)	gnomAD v4
20	g.3083110C>G	CA509554727	AVP	c.189G>C (p.Leu63=)
20	g.3083110C>T	CA509554728	AVP	c.189G>A (p.Leu63=)	gnomAD v4
20	g.3083111A>C	CA408061748	AVP	c.188T>G (p.Leu63Arg)
20	g.3083111A>G	CA408061749	AVP	c.188T>C (p.Leu63Pro)	gnomAD v4
20	g.3083111A>T	CA408061750	AVP	c.188T>A (p.Leu63Gln)
20	g.3083112G>A	CA509554729	AVP	c.187C>T (p.Leu63=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083112G>C	CA408061751	AVP	c.187C>G (p.Leu63Val)	gnomAD v4
20	g.3083112G=	CA2346405581	AVP	c.187C= (p.Leu63=)
20	g.3083112G>T	CA408061752	AVP	c.187C>A (p.Leu63Met)	gnomAD v4
20	g.3083113C>A	CA408061754	AVP	c.186G>T (p.Glu62Asp)	gnomAD v4
20	g.3083113C>G	CA408061753	AVP	c.186G>C (p.Glu62Asp)
20	g.3083113C>T	CA509554730	AVP	c.186G>A (p.Glu62=)	gnomAD v4
20	g.3083114T>A	CA408061755	AVP	c.185A>T (p.Glu62Val)
20	g.3083114T>C	CA408061756	AVP	c.185A>G (p.Glu62Gly)	gnomAD v4
20	g.3083114T>G	CA408061757	AVP	c.185A>C (p.Glu62Ala)
20	g.3083115C>A	CA408061758	AVP	c.184G>T (p.Glu62Ter)	gnomAD v4
20	g.3083115C=	CA2346405582	AVP	c.184G= (p.Glu62=)
20	g.3083115C>G	CA408061759	AVP	c.184G>C (p.Glu62Gln)
20	g.3083115C>T	CA310943294	AVP	c.184G>A (p.Glu62Lys)	dbSNP
20	g.3083116G>A	CA9739461	AVP	c.183C>T (p.Asp61=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083116G>C	CA408061760	AVP	c.183C>G (p.Asp61Glu)	gnomAD v4
20	g.3083116G=	CA2346405583	AVP	c.183C= (p.Asp61=)
20	g.3083116G>T	CA408061761	AVP	c.183C>A (p.Asp61Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083117T>A	CA408061762	AVP	c.182A>T (p.Asp61Val)
20	g.3083117T>C	CA408061763	AVP	c.182A>G (p.Asp61Gly)	gnomAD v4
20	g.3083117T>G	CA408061764	AVP	c.182A>C (p.Asp61Ala)
20	g.3083118C>A	CA408061766	AVP	c.181G>T (p.Asp61Tyr)	gnomAD v4
20	g.3083118C>G	CA408061767	AVP	c.181G>C (p.Asp61His)
20	g.3083118C>T	CA408061765	AVP	c.181G>A (p.Asp61Asn)	gnomAD v4
20	g.3083119C>A	CA509554731	AVP	c.180G>T (p.Ala60=)	dbSNP gnomAD v3 gnomAD v4
20	g.3083119C=	CA2346405584	AVP	c.180G= (p.Ala60=)
20	g.3083119C>G	CA509554732	AVP	c.180G>C (p.Ala60=)
20	g.3083119C>T	CA509554733	AVP	c.180G>A (p.Ala60=)	gnomAD v4
20	g.3083122_3083123del	CA2651674848	AVP	c.179_180del (p.Ala60GlyfsTer11)	gnomAD v4
20	g.3083120G>A	CA9739462	AVP	c.179C>T (p.Ala60Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083120G>C	CA408061768	AVP	c.179C>G (p.Ala60Gly)	gnomAD v4
20	g.3083120G=	CA2346405585	AVP	c.179C= (p.Ala60=)
20	g.3083120G>T	CA408061769	AVP	c.179C>A (p.Ala60Glu)	gnomAD v4
20	g.3083120_3083122del	CA2695229218	AVP	c.177_179del (p.Cys59_Ala60delinsTrp)
20	g.3083121C>A	CA408061770	AVP	c.178G>T (p.Ala60Ser)	gnomAD v4
20	g.3083121C>G	CA408061771	AVP	c.178G>C (p.Ala60Pro)
20	g.3083121C>T	CA408061772	AVP	c.178G>A (p.Ala60Thr)	gnomAD v4
20	g.3083122G>A	CA509554734	AVP	c.177C>T (p.Cys59=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20	g.3083122G>C	CA408061773	AVP	c.177C>G (p.Cys59Trp)
20	g.3083122G=	CA2346405586	AVP	c.177C= (p.Cys59=)
20	g.3083122G>T	CA408061774	AVP	c.177C>A (p.Cys59Ter)	gnomAD v4
20	g.3083123C>A	CA408061775	AVP	c.176G>T (p.Cys59Phe)	gnomAD v4
20	g.3083123C>G	CA408061776	AVP	c.176G>C (p.Cys59Ser)
20	g.3083123C>T	CA408061777	AVP	c.176G>A (p.Cys59Tyr)	gnomAD v4
20	g.3083124A>C	CA408061778	AVP	c.175T>G (p.Cys59Gly)
20	g.3083124A>G	CA408061779	AVP	c.175T>C (p.Cys59Arg)	gnomAD v4
20	g.3083124A>T	CA408061780	AVP	c.175T>A (p.Cys59Ser)
20	g.3083125G>A	CA509554735	AVP	c.174C>T (p.Cys58=)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.3083125G>C	CA408061781	AVP	c.174C>G (p.Cys58Trp)	gnomAD v4
20	g.3083125G=	CA2346405587	AVP	c.174C= (p.Cys58=)
20	g.3083125G>T	CA408061782	AVP	c.174C>A (p.Cys58Ter)	gnomAD v4
20	g.3083126C>A	CA408061783	AVP	c.173G>T (p.Cys58Phe)	gnomAD v4
20	g.3083126C>G	CA408061784	AVP	c.173G>C (p.Cys58Ser)
20	g.3083126C>T	CA408061785	AVP	c.173G>A (p.Cys58Tyr)	gnomAD v4
20	g.3083127A>C	CA408061786	AVP	c.172T>G (p.Cys58Gly)
20	g.3083127A>G	CA408061787	AVP	c.172T>C (p.Cys58Arg)	gnomAD v4
20	g.3083127A>T	CA408061788	AVP	c.172T>A (p.Cys58Ser)
20	g.3083128G>A	CA509554737	AVP	c.171C>T (p.Ile57=)
20	g.3083128G>C	CA408061789	AVP	c.171C>G (p.Ile57Met)
20	g.3083128G>T	CA509554736	AVP	c.171C>A (p.Ile57=)
20	g.3083129A>C	CA408061790	AVP	c.170T>G (p.Ile57Ser)
20	g.3083129A>G	CA408061791	AVP	c.170T>C (p.Ile57Thr)	gnomAD v4
20	g.3083129A>T	CA408061792	AVP	c.170T>A (p.Ile57Asn)
20	g.3083130T>A	CA408061793	AVP	c.169A>T (p.Ile57Phe)
20	g.3083130T>C	CA408061794	AVP	c.169A>G (p.Ile57Val)	gnomAD v4
20	g.3083130T>G	CA408061795	AVP	c.169A>C (p.Ile57Leu)
20	g.3083131G>A	CA509554738	AVP	c.168C>T (p.Ser56=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083131G>C	CA408061796	AVP	c.168C>G (p.Ser56Arg)
20	g.3083131G=	CA2346405588	AVP	c.168C= (p.Ser56=)
20	g.3083131G>T	CA408061797	AVP	c.168C>A (p.Ser56Arg)	gnomAD v4
20	g.3083132C>A	CA408061798	AVP	c.167G>T (p.Ser56Ile)	gnomAD v4
20	g.3083132C=	CA2346405589	AVP	c.167G= (p.Ser56=)
20	g.3083132C>G	CA408061800	AVP	c.167G>C (p.Ser56Thr)
20	g.3083132C>T	CA408061799	AVP	c.167G>A (p.Ser56Asn)	dbSNP gnomAD v2 gnomAD v4
20	g.3083133T>A	CA408061801	AVP	c.166A>T (p.Ser56Cys)
20	g.3083133T>C	CA408061802	AVP	c.166A>G (p.Ser56Gly)	dbSNP gnomAD v4
20	g.3083133T>G	CA408061803	AVP	c.166A>C (p.Ser56Arg)
20	g.3083133T=	CA2346405590	AVP	c.166A= (p.Ser56=)
20	g.3083134G>A	CA310943310	AVP	c.165C>T (p.Pro55=)	dbSNP gnomAD v3 gnomAD v4
20	g.3083134G>C	CA509554740	AVP	c.165C>G (p.Pro55=)
20	g.3083134G=	CA2346405591	AVP	c.165C= (p.Pro55=)
20	g.3083134G>T	CA509554739	AVP	c.165C>A (p.Pro55=)	gnomAD v4
20	g.3083135G>A	CA408061804	AVP	c.164C>T (p.Pro55Leu)	ClinVar gnomAD v4
20	g.3083135G>C	CA408061805	AVP	c.164C>G (p.Pro55Arg)
20	g.3083135G>T	CA408061806	AVP	c.164C>A (p.Pro55His)	gnomAD v4
20	g.3083136G>A	CA408061807	AVP	c.163C>T (p.Pro55Ser)	gnomAD v4
20	g.3083136G>C	CA9739463	AVP	c.163C>G (p.Pro55Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083136G=	CA2346405592	AVP	c.163C= (p.Pro55=)
20	g.3083136G>T	CA408061808	AVP	c.163C>A (p.Pro55Thr)	gnomAD v4
20	g.3083137C>A	CA509554741	AVP	c.162G>T (p.Gly54=)	gnomAD v4
20	g.3083137C>G	CA509554742	AVP	c.162G>C (p.Gly54=)	gnomAD v4
20	g.3083137C>T	CA509554743	AVP	c.162G>A (p.Gly54=)	gnomAD v4
20	g.3083138C>A	CA121961	AVP	c.161G>T (p.Gly54Val)	ClinVar dbSNP gnomAD v4
20	g.3083138C=	CA2346405593	AVP	c.161G= (p.Gly54=)
20	g.3083138C>G	CA408061809	AVP	c.161G>C (p.Gly54Ala)	gnomAD v4
20	g.3083138C>T	CA408061810	AVP	c.161G>A (p.Gly54Glu)	gnomAD v4
20	g.3083139C>A	CA408061812	AVP	c.160G>T (p.Gly54Trp)	gnomAD v4
20	g.3083139C=	CA2346405594	AVP	c.160G= (p.Gly54=)
20	g.3083139C>G	CA121963	AVP	c.160G>C (p.Gly54Arg)	ClinVar dbSNP
20	g.3083139C>T	CA408061811	AVP	c.160G>A (p.Gly54Arg)	gnomAD v4
20	g.3083140G>A	CA9739464	AVP	c.159C>T (p.Phe53=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083140G>C	CA408061813	AVP	c.159C>G (p.Phe53Leu)
20	g.3083140G=	CA2346405595	AVP	c.159C= (p.Phe53=)
20	g.3083140G>T	CA408061814	AVP	c.159C>A (p.Phe53Leu)	gnomAD v4
20	g.3083141A>C	CA408061815	AVP	c.158T>G (p.Phe53Cys)
20	g.3083141A>G	CA408061816	AVP	c.158T>C (p.Phe53Ser)	gnomAD v4
20	g.3083141A>T	CA408061817	AVP	c.158T>A (p.Phe53Tyr)
20	g.3083142A>C	CA408061818	AVP	c.157T>G (p.Phe53Val)
20	g.3083142A>G	CA408061819	AVP	c.157T>C (p.Phe53Leu)	gnomAD v4
20	g.3083142A>T	CA408061820	AVP	c.157T>A (p.Phe53Ile)
20	g.3083143G>A	CA509554744	AVP	c.156C>T (p.Cys52=)	gnomAD v4
20	g.3083143G>C	CA408061821	AVP	c.156C>G (p.Cys52Trp)
20	g.3083143G>T	CA408061822	AVP	c.156C>A (p.Cys52Ter)	gnomAD v4
20	g.3083144C>A	CA408061825	AVP	c.155G>T (p.Cys52Phe)	gnomAD v4
20	g.3083144C>G	CA408061824	AVP	c.155G>C (p.Cys52Ser)
20	g.3083144C>T	CA408061823	AVP	c.155G>A (p.Cys52Tyr)	gnomAD v4
20	g.3083145A>C	CA408061828	AVP	c.154T>G (p.Cys52Gly)
20	g.3083145A>G	CA408061826	AVP	c.154T>C (p.Cys52Arg)	gnomAD v4
20	g.3083145A>T	CA408061827	AVP	c.154T>A (p.Cys52Ser)
20	g.3083146G>A	CA509554745	AVP	c.153C>T (p.Arg51=)	gnomAD v4
20	g.3083146G>C	CA509554746	AVP	c.153C>G (p.Arg51=)
20	g.3083146G>T	CA509554747	AVP	c.153C>A (p.Arg51=)	gnomAD v4
20	g.3083147C>A	CA408061829	AVP	c.152G>T (p.Arg51Leu)	gnomAD v4
20	g.3083147C>G	CA408061830	AVP	c.152G>C (p.Arg51Pro)
20	g.3083147C>T	CA408061831	AVP	c.152G>A (p.Arg51His)	gnomAD v4
20	g.3083148G>A	CA408061832	AVP	c.151C>T (p.Arg51Cys)	dbSNP gnomAD v3 gnomAD v4
20	g.3083148G>C	CA408061833	AVP	c.151C>G (p.Arg51Gly)
20	g.3083148G=	CA2346405596	AVP	c.151C= (p.Arg51=)
20	g.3083148G>T	CA408061834	AVP	c.151C>A (p.Arg51Ser)	gnomAD v4
20	g.3083149G>A	CA509554748	AVP	c.150C>T (p.Gly50=)	gnomAD v4
20	g.3083149G>C	CA509554749	AVP	c.150C>G (p.Gly50=)
20	g.3083149G=	CA2346405597	AVP	c.150C= (p.Gly50=)
20	g.3083149G>T	CA9739465	AVP	c.150C>A (p.Gly50=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083150C>A	CA408061835	AVP	c.149G>T (p.Gly50Val)	gnomAD v4
20	g.3083150C>G	CA408061836	AVP	c.149G>C (p.Gly50Ala)
20	g.3083150C>T	CA408061837	AVP	c.149G>A (p.Gly50Asp)	gnomAD v4
20	g.3083151C>A	CA408061839	AVP	c.148G>T (p.Gly50Cys)	gnomAD v4
20	g.3083151C>G	CA408061840	AVP	c.148G>C (p.Gly50Arg)
20	g.3083151C>T	CA408061838	AVP	c.148G>A (p.Gly50Ser)
20	g.3083152T>A	CA408061841	AVP	c.147A>T (p.Lys49Asn)	gnomAD v4
20	g.3083152T>C	CA509554750	AVP	c.147A>G (p.Lys49=)	gnomAD v4
20	g.3083152T>G	CA408061842	AVP	c.147A>C (p.Lys49Asn)	gnomAD v4
20	g.3083154del	CA2651674849	AVP	c.147del (p.Gly50AlafsTer?)	gnomAD v4
20	g.3083153T>A	CA408061843	AVP	c.146A>T (p.Lys49Ile)	gnomAD v4
20	g.3083153T>C	CA408061844	AVP	c.146A>G (p.Lys49Arg)	gnomAD v4
20	g.3083153T>G	CA408061845	AVP	c.146A>C (p.Lys49Thr)
20	g.3083154T>A	CA408061848	AVP	c.145A>T (p.Lys49Ter)
20	g.3083154T>C	CA408061846	AVP	c.145A>G (p.Lys49Glu)	gnomAD v4
20	g.3083154T>G	CA408061847	AVP	c.145A>C (p.Lys49Gln)
20	g.3083154_3083155delinsTG	CA2346405598	AVP	c.144_145delinsCA (p.Gly48=)
20	g.3083155del	CA2346405599	AVP	c.144del (p.Gly50AlafsTer?)	dbSNP
20	g.3083155G>A	CA509554752	AVP	c.144C>T (p.Gly48=)	gnomAD v4
20	g.3083155G>C	CA509554753	AVP	c.144C>G (p.Gly48=)
20	g.3083155G>T	CA509554751	AVP	c.144C>A (p.Gly48=)	gnomAD v4
20	g.3083155_3083156delinsGC	CA2346405600	AVP	c.143_144delinsGC (p.Gly48=)
20	g.3083156C>A	CA121948	AVP	c.143G>T (p.Gly48Val)	ClinVar dbSNP gnomAD v4
20	g.3083156C=	CA2346405601	AVP	c.143G= (p.Gly48=)
20	g.3083156C>G	CA408061849	AVP	c.143G>C (p.Gly48Ala)	dbSNP
20	g.3083156C>T	CA408061850	AVP	c.143G>A (p.Gly48Asp)	gnomAD v4
20	g.3083160dup	CA2651674850	AVP	c.143dup (p.Lys49GlnfsTer23)	gnomAD v4
20	g.3083160del	CA634328927	AVP	c.143del (p.Gly48AlafsTer?)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched