Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.23047754_23047771dup	CA635265752	THBD	c.23_40dup (n.23_40dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047754_23047771del	CA9787493	THBD	c.23_40del (n.23_40del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047754_23047772delinsCCAGGCTCCTGGACGGAGG	CA2355680692	THBD	c.5_23delinsCCTCCGTCCAGGAGCCTGG (n.5_23delinsCCTCCGTCCAGGAGCCTGG)
20	g.23047756_23047773del	CA9787500	THBD	c.5_22del (n.5_22del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047758G>A	CA635265761	THBD	c.19C>T (n.19C>T)	dbSNP gnomAD v2
20	g.23047758G=	CA2355680696	THBD	c.19C= (n.19C=)
20	g.23047758G>T	CA2652141617	THBD	c.19C>A (n.19C>A)	gnomAD v4
20	g.23047759C>A	CA635265762	THBD	c.18G>T (n.18G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047759C=	CA2355680697	THBD	c.18G= (n.18G=)
20	g.23047759C>G	CA2577353593	THBD	c.18G>C (n.18G>C)
20	g.23047759C>T	CA635265763	THBD	c.18G>A (n.18G>A)	dbSNP gnomAD v2
20	g.23047760T>G	CA2652141618	THBD	c.17A>C (n.17A>C)	gnomAD v4
20	g.23047761C=	CA2355680698	THBD	c.16G= (n.16G=)
20	g.23047761C>T	CA313550049	THBD	c.16G>A (n.16G>A)	dbSNP
20	g.23047762C>A	CA2652141619	THBD	c.15G>T (n.15G>T)	gnomAD v4
20	g.23047762C=	CA2355680699	THBD	c.15G= (n.15G=)
20	g.23047762C>T	CA2355680700	THBD	c.15G>A (n.15G>A)	dbSNP gnomAD v4
20	g.23047762_23047763insAGCTT	CA2504450523	THBD	c.14_15insAAGCT (n.14_15insAAGCT)
20	g.23047763T>C	CA635265764	THBD	c.14A>G (n.14A>G)	dbSNP gnomAD v2 gnomAD v4
20	g.23047763T=	CA2355680701	THBD	c.14A= (n.14A=)
20	g.23047764G>A	CA2652141621	THBD	c.13C>T (n.13C>T)	gnomAD v4
20	g.23047764G>T	CA2652141620	THBD	c.13C>A (n.13C>A)	gnomAD v4
20	g.23047765G>A	CA2652141622	THBD	c.12C>T (n.12C>T)	gnomAD v4
20	g.23047765G>T	CA2652141623	THBD	c.12C>A (n.12C>A)	gnomAD v4
20	g.23047766A=	CA2355680702	THBD	c.11T= (n.11T=)
20	g.23047766A>G	CA1016218584	THBD	c.11T>C (n.11T>C)	dbSNP gnomAD v3 gnomAD v4
20	g.23047767C>A	CA2577353594	THBD	c.10G>T (n.10G>T)	gnomAD v4
20	g.23047767C=	CA2355680703	THBD	c.10G= (n.10G=)
20	g.23047767C>G	CA635265765	THBD	c.10G>C (n.10G>C)	dbSNP gnomAD v2 gnomAD v4
20	g.23047767C>T	CA313550059	THBD	c.10G>A (n.10G>A)	dbSNP gnomAD v2 gnomAD v4
20	g.23047768G>A	CA313550062	THBD	c.9C>T (n.9C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047768G>C	CA9787502	THBD	c.9C>G (n.9C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047768G=	CA2355680704	THBD	c.9C= (n.9C=)
20	g.23047768G>T	CA2652141624	THBD	c.9C>A (n.9C>A)	gnomAD v4
20	g.23047769G>A	CA2652141625	THBD	c.8C>T (n.8C>T)	gnomAD v4
20	g.23047769G>C	CA313550069	THBD	c.8C>G (n.8C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047769G=	CA2355680705	THBD	c.8C= (n.8C=)
20	g.23047769G>T	CA2652141626	THBD	c.8C>A (n.8C>A)	gnomAD v4
20	g.23047770A>G	CA2652141627	THBD	c.7T>C (n.7T>C)	gnomAD v4
20	g.23047771G>A	CA635265766	THBD	c.6C>T (n.6C>T)	dbSNP gnomAD v2
20	g.23047771G=	CA2355680706	THBD	c.6C= (n.6C=)
20	g.23047771G>T	CA2577353595	THBD	c.6C>A (n.6C>A)
20	g.23047772G>C	CA2355680707	THBD	c.5C>G (n.5C>G)	dbSNP
20	g.23047772G=	CA2355680708	THBD	c.5C= (n.5C=)
20	g.23047773C>A	CA313550080	THBD	c.4G>T (n.4G>T)	dbSNP gnomAD v2 gnomAD v4
20	g.23047773C=	CA2355680709	THBD	c.4G= (n.4G=)
20	g.23047773C>T	CA2652141628	THBD	c.4G>A (n.4G>A)	gnomAD v4
20	g.23047774C>A	CA313550106	THBD	c.3G>T (n.3G>T)	dbSNP gnomAD v3 gnomAD v4
20	g.23047774C=	CA2355680710	THBD	c.3G= (n.3G=)
20	g.23047774C>G	CA9787503	THBD	c.3G>C (n.3G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047774C>T	CA313550120	THBD	c.3G>A (n.3G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047775G>A	CA2355680711	THBD	c.2C>T (n.2C>T)	dbSNP gnomAD v4
20	g.23047775G=	CA2355680712	THBD	c.2C= (n.2C=)
20	g.23047775G>T	CA2652141629	THBD	c.2C>A (n.2C>A)	gnomAD v4
20	g.23047776C>A	CA1139666668	THBD	c.1G>T (n.1G>T)	ClinVar dbSNP gnomAD v4
20	g.23047776C=	CA2355680713	THBD	c.1G= (n.1G=)
20	g.23047776C>G	CA2652141631	THBD	c.1G>C (n.1G>C)	gnomAD v4
20	g.23047776C>T	CA2652141630	THBD	c.1G>A (n.1G>A)	gnomAD v4
20	g.23047777T>A	CA408404939	THBD	c.1728A>T (p.Ter576Cys)	gnomAD v4
20	g.23047777T>C	CA408404937	THBD	c.1728A>G (p.Ter576Trp)	gnomAD v4
20	g.23047777T>G	CA408404938	THBD	c.1728A>C (p.Ter576Cys)
20	g.23047778C>A	CA408404940	THBD	c.1727G>T (p.Ter576Leu)	gnomAD v4
20	g.23047778C>G	CA408404941	THBD	c.1727G>C (p.Ter576Ser)
20	g.23047778C>T	CA510160323	THBD	c.1727G>A (p.Ter576=)	gnomAD v4
20	g.23047779A=	CA2355680714	THBD	c.1726T= (p.Ter576=)
20	g.23047779A>C	CA408404942	THBD	c.1726T>G (p.Ter576Gly)
20	g.23047779A>G	CA408404943	THBD	c.1726T>C (p.Ter576Arg)
20	g.23047779A>T	CA313550130	THBD	c.1726T>A (p.Ter576Arg)	dbSNP gnomAD v3 gnomAD v4
20	g.23047780G>A	CA510160327	THBD	c.1725C>T (p.Leu575=)
20	g.23047780G>C	CA510160328	THBD	c.1725C>G (p.Leu575=)
20	g.23047780G>T	CA510160331	THBD	c.1725C>A (p.Leu575=)	gnomAD v4
20	g.23047781A=	CA2355680715	THBD	c.1724T= (p.Leu575=)
20	g.23047781A>C	CA9787504	THBD	c.1724T>G (p.Leu575Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047781A>G	CA408404944	THBD	c.1724T>C (p.Leu575Pro)	gnomAD v4
20	g.23047781A>T	CA408404945	THBD	c.1724T>A (p.Leu575His)
20	g.23047782G>A	CA313550133	THBD	c.1723C>T (p.Leu575Phe)	dbSNP gnomAD v3 gnomAD v4
20	g.23047782G>C	CA408404946	THBD	c.1723C>G (p.Leu575Val)
20	g.23047782G=	CA2355680716	THBD	c.1723C= (p.Leu575=)
20	g.23047782G>T	CA408404947	THBD	c.1723C>A (p.Leu575Ile)
20	g.23047782_23047784delinsGTC	CA2355680717	THBD	c.1721_1723delinsGAC (p.Arg574=)
20	g.23047783T>A	CA408404949	THBD	c.1722A>T (p.Arg574Ser)
20	g.23047783T>C	CA510160336	THBD	c.1722A>G (p.Arg574=)
20	g.23047783T>G	CA408404948	THBD	c.1722A>C (p.Arg574Ser)
20	g.23047786_23047787del	CA2355680718	THBD	c.1721_1722del (p.Arg574ThrfsTer?)	dbSNP
20	g.23047784C>A	CA313550135	THBD	c.1721G>T (p.Arg574Ile)	dbSNP gnomAD v4
20	g.23047784C=	CA2355680719	THBD	c.1721G= (p.Arg574=)
20	g.23047784C>G	CA408404950	THBD	c.1721G>C (p.Arg574Thr)
20	g.23047784C>T	CA408404951	THBD	c.1721G>A (p.Arg574Lys)	COSMIC
20	g.23047785T>A	CA408404952	THBD	c.1720A>T (p.Arg574Ter)
20	g.23047785T>C	CA408404953	THBD	c.1720A>G (p.Arg574Gly)	gnomAD v4
20	g.23047785T>G	CA510160341	THBD	c.1720A>C (p.Arg574=)
20	g.23047786C>A	CA408404954	THBD	c.1719G>T (p.Gln573His)	gnomAD v4
20	g.23047786C>G	CA408404955	THBD	c.1719G>C (p.Gln573His)
20	g.23047786C>T	CA510160343	THBD	c.1719G>A (p.Gln573=)
20	g.23047787T>A	CA408404956	THBD	c.1718A>T (p.Gln573Leu)	gnomAD v4
20	g.23047787T>C	CA408404957	THBD	c.1718A>G (p.Gln573Arg)	gnomAD v4
20	g.23047787T>G	CA408404958	THBD	c.1718A>C (p.Gln573Pro)
20	g.23047788G>A	CA408404959	THBD	c.1717C>T (p.Gln573Ter)	dbSNP gnomAD v4
20	g.23047788G>C	CA408404960	THBD	c.1717C>G (p.Gln573Glu)
20	g.23047788G=	CA2355680721	THBD	c.1717C= (p.Gln573=)
20	g.23047788G>T	CA408404961	THBD	c.1717C>A (p.Gln573Lys)	gnomAD v4
20	g.23047788_23047808delinsGCGGCGTCCGCTCGGTCCGCA	CA2355680720	THBD	c.1697_1717delinsTGCGGACCGAGCGGACGCCGC (p.Val566=)
20	g.23047789C>A	CA510160353	THBD	c.1716G>T (p.Pro572=)	dbSNP gnomAD v2 gnomAD v4
20	g.23047789C=	CA2355680722	THBD	c.1716G= (p.Pro572=)
20	g.23047789C>G	CA510160354	THBD	c.1716G>C (p.Pro572=)	gnomAD v4
20	g.23047789C>T	CA510160355	THBD	c.1716G>A (p.Pro572=)	gnomAD v4
20	g.23047791_23047810del	CA635265767	THBD	c.1697_1716del (p.Val566AlafsTer?)	dbSNP gnomAD v2 gnomAD v4
20	g.23047790G>A	CA313550140	THBD	c.1715C>T (p.Pro572Leu)	dbSNP gnomAD v4
20	g.23047790G>C	CA408404962	THBD	c.1715C>G (p.Pro572Arg)	gnomAD v4
20	g.23047790G=	CA2355680723	THBD	c.1715C= (p.Pro572=)
20	g.23047790G>T	CA408404963	THBD	c.1715C>A (p.Pro572Gln)	gnomAD v4
20	g.23047791G>A	CA313550169	THBD	c.1714C>T (p.Pro572Ser)	dbSNP gnomAD v2 gnomAD v4
20	g.23047791G>C	CA408404964	THBD	c.1714C>G (p.Pro572Ala)
20	g.23047791G=	CA2355680724	THBD	c.1714C= (p.Pro572=)
20	g.23047791G>T	CA408404965	THBD	c.1714C>A (p.Pro572Thr)	gnomAD v4
20	g.23047792C>A	CA510160361	THBD	c.1713G>T (p.Thr571=)	dbSNP gnomAD v4
20	g.23047792C=	CA2355680725	THBD	c.1713G= (p.Thr571=)
20	g.23047792C>G	CA510160362	THBD	c.1713G>C (p.Thr571=)
20	g.23047792C>T	CA313550183	THBD	c.1713G>A (p.Thr571=)	dbSNP gnomAD v3 gnomAD v4
20	g.23047794_23047797del	CA2652141632	THBD	c.1710_1713del (p.Thr571ArgfsTer?)	gnomAD v4
20	g.23047793G>A	CA408404966	THBD	c.1712C>T (p.Thr571Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.23047793G>C	CA408404967	THBD	c.1712C>G (p.Thr571Arg)
20	g.23047793G=	CA2355680726	THBD	c.1712C= (p.Thr571=)
20	g.23047793G>T	CA408404968	THBD	c.1712C>A (p.Thr571Lys)	gnomAD v4
20	g.23047794T>A	CA408404969	THBD	c.1711A>T (p.Thr571Ser)
20	g.23047794T>C	CA408404970	THBD	c.1711A>G (p.Thr571Ala)
20	g.23047794T>G	CA408404971	THBD	c.1711A>C (p.Thr571Pro)
20	g.23047795C>A	CA510160370	THBD	c.1710G>T (p.Arg570=)	gnomAD v4
20	g.23047795C=	CA2355680727	THBD	c.1710G= (p.Arg570=)
20	g.23047795C>G	CA510160375	THBD	c.1710G>C (p.Arg570=)
20	g.23047795C>T	CA510160373	THBD	c.1710G>A (p.Arg570=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047796del	CA2652141633	THBD	c.1710del (p.Thr571ArgfsTer?)	gnomAD v4
20	g.23047796C>A	CA408404972	THBD	c.1709G>T (p.Arg570Leu)	dbSNP gnomAD v3 gnomAD v4
20	g.23047796C=	CA2355680728	THBD	c.1709G= (p.Arg570=)
20	g.23047796C>G	CA408404973	THBD	c.1709G>C (p.Arg570Pro)	dbSNP gnomAD v2 gnomAD v4
20	g.23047796C>T	CA408404974	THBD	c.1709G>A (p.Arg570Gln)	dbSNP gnomAD v2 gnomAD v4
20	g.23047797_23047798del	CA2652141634	THBD	c.1708_1709del (p.Arg570AspfsTer?)	gnomAD v4
20	g.23047797G>A	CA408404976	THBD	c.1708C>T (p.Arg570Trp)	gnomAD v4
20	g.23047797G>C	CA408404975	THBD	c.1708C>G (p.Arg570Gly)	dbSNP gnomAD v2 gnomAD v4
20	g.23047797G=	CA2355680729	THBD	c.1708C= (p.Arg570=)
20	g.23047797G>T	CA510160377	THBD	c.1708C>A (p.Arg570=)	dbSNP gnomAD v4
20	g.23047798C>A	CA408404977	THBD	c.1707G>T (p.Glu569Asp)
20	g.23047798C=	CA2355680730	THBD	c.1707G= (p.Glu569=)
20	g.23047798C>G	CA408404978	THBD	c.1707G>C (p.Glu569Asp)	gnomAD v4
20	g.23047798C>T	CA9787505	THBD	c.1707G>A (p.Glu569=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047799T>A	CA408404979	THBD	c.1706A>T (p.Glu569Val)
20	g.23047799T>C	CA408404981	THBD	c.1706A>G (p.Glu569Gly)	gnomAD v4
20	g.23047799T>G	CA408404980	THBD	c.1706A>C (p.Glu569Ala)
20	g.23047799T=	CA2355680732	THBD	c.1706A= (p.Glu569=)
20	g.23047799_23047800delinsTC	CA2355680731	THBD	c.1705_1706delinsGA (p.Glu569=)
20	g.23047800del	CA742233521	THBD	c.1705del (p.Glu569SerfsTer?)	dbSNP
20	g.23047800C>A	CA313550192	THBD	c.1705G>T (p.Glu569Ter)	dbSNP gnomAD v4
20	g.23047800C=	CA2355680733	THBD	c.1705G= (p.Glu569=)
20	g.23047800C>G	CA313550194	THBD	c.1705G>C (p.Glu569Gln)	ClinVar dbSNP gnomAD v4
20	g.23047800C>T	CA408404982	THBD	c.1705G>A (p.Glu569Lys)	dbSNP gnomAD v2 gnomAD v4
20	g.23047802_23047810dup	CA2355680734	THBD	c.1697_1705dup (p.Thr568_Glu569insValArgThr)	dbSNP
20	g.23047801G>A	CA9787506	THBD	c.1704C>T (p.Thr568=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047801G>C	CA9787507	THBD	c.1704C>G (p.Thr568=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047801G=	CA2355680735	THBD	c.1704C= (p.Thr568=)
20	g.23047801G>T	CA510160384	THBD	c.1704C>A (p.Thr568=)	dbSNP gnomAD v2 gnomAD v4
20	g.23047802G>A	CA408404983	THBD	c.1703C>T (p.Thr568Ile)	gnomAD v4
20	g.23047802G>C	CA408404984	THBD	c.1703C>G (p.Thr568Ser)	dbSNP gnomAD v2
20	g.23047802G=	CA2355680736	THBD	c.1703C= (p.Thr568=)
20	g.23047802G>T	CA408404985	THBD	c.1703C>A (p.Thr568Asn)	gnomAD v4
20	g.23047803T>A	CA408404986	THBD	c.1702A>T (p.Thr568Ser)
20	g.23047803T>C	CA408404987	THBD	c.1702A>G (p.Thr568Ala)
20	g.23047803T>G	CA408404988	THBD	c.1702A>C (p.Thr568Pro)
20	g.23047804C>A	CA510160392	THBD	c.1701G>T (p.Arg567=)	gnomAD v4
20	g.23047804C>G	CA510160394	THBD	c.1701G>C (p.Arg567=)
20	g.23047804C>T	CA510160391	THBD	c.1701G>A (p.Arg567=)	gnomAD v4
20	g.23047805C>A	CA408404990	THBD	c.1700G>T (p.Arg567Leu)	dbSNP gnomAD v2 gnomAD v4
20	g.23047805C=	CA2355680737	THBD	c.1700G= (p.Arg567=)
20	g.23047805C>G	CA408404989	THBD	c.1700G>C (p.Arg567Pro)
20	g.23047805C>T	CA9787508	THBD	c.1700G>A (p.Arg567Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047806G>A	CA9787509	THBD	c.1699C>T (p.Arg567Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047806G>C	CA313550227	THBD	c.1699C>G (p.Arg567Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047806G=	CA2355680738	THBD	c.1699C= (p.Arg567=)
20	g.23047806G>T	CA510160403	THBD	c.1699C>A (p.Arg567=)
20	g.23047807C>A	CA510160405	THBD	c.1698G>T (p.Val566=)	gnomAD v4
20	g.23047807C>G	CA510160406	THBD	c.1698G>C (p.Val566=)
20	g.23047807C>T	CA510160408	THBD	c.1698G>A (p.Val566=)	gnomAD v4
20	g.23047808A=	CA2355680739	THBD	c.1697T= (p.Val566=)
20	g.23047808A>C	CA9787510	THBD	c.1697T>G (p.Val566Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047808A>G	CA408404991	THBD	c.1697T>C (p.Val566Ala)
20	g.23047808A>T	CA408404992	THBD	c.1697T>A (p.Val566Glu)
20	g.23047808_23047809delinsAC	CA2355680740	THBD	c.1696_1697delinsGT (p.Val566=)
20	g.23047809del	CA510160415	THBD	c.1696del (p.Val566CysfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047809C>A	CA408404993	THBD	c.1696G>T (p.Val566Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.23047809C=	CA2355680741	THBD	c.1696G= (p.Val566=)
20	g.23047809C>G	CA408404994	THBD	c.1696G>C (p.Val566Leu)
20	g.23047809C>T	CA313550244	THBD	c.1696G>A (p.Val566Met)	dbSNP gnomAD v4
20	g.23047810del	CA408404997	THBD	c.1695del (p.His565GlnfsTer?)
20	g.23047810G>A	CA510160417	THBD	c.1695C>T (p.His565=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047810G>C	CA408404995	THBD	c.1695C>G (p.His565Gln)	dbSNP gnomAD v3 gnomAD v4
20	g.23047810G=	CA2355680742	THBD	c.1695C= (p.His565=)
20	g.23047810G>T	CA408404996	THBD	c.1695C>A (p.His565Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047811T>A	CA408405000	THBD	c.1694A>T (p.His565Leu)
20	g.23047811T>C	CA408404999	THBD	c.1694A>G (p.His565Arg)	ClinVar gnomAD v4
20	g.23047811T>G	CA408404998	THBD	c.1694A>C (p.His565Pro)
20	g.23047812G>A	CA408405001	THBD	c.1693C>T (p.His565Tyr)	gnomAD v4
20	g.23047812G>C	CA408405002	THBD	c.1693C>G (p.His565Asp)
20	g.23047812G=	CA2355680743	THBD	c.1693C= (p.His565=)
20	g.23047812G>T	CA9787511	THBD	c.1693C>A (p.His565Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047813C>A	CA408405003	THBD	c.1692G>T (p.Gln564His)	gnomAD v4
20	g.23047813C=	CA2355680744	THBD	c.1692G= (p.Gln564=)
20	g.23047813C>G	CA408405004	THBD	c.1692G>C (p.Gln564His)
20	g.23047813C>T	CA510160422	THBD	c.1692G>A (p.Gln564=)	dbSNP gnomAD v4
20	g.23047814T>A	CA408405005	THBD	c.1691A>T (p.Gln564Leu)
20	g.23047814T>C	CA408405006	THBD	c.1691A>G (p.Gln564Arg)	gnomAD v4
20	g.23047814T>G	CA408405007	THBD	c.1691A>C (p.Gln564Pro)
20	g.23047815G>A	CA408405008	THBD	c.1690C>T (p.Gln564Ter)	gnomAD v4
20	g.23047815G>C	CA408405009	THBD	c.1690C>G (p.Gln564Glu)
20	g.23047815G>T	CA408405010	THBD	c.1690C>A (p.Gln564Lys)	gnomAD v4
20	g.23047816C>A	CA510160429	THBD	c.1689G>T (p.Leu563=)
20	g.23047816C>G	CA510160430	THBD	c.1689G>C (p.Leu563=)
20	g.23047816C>T	CA510160431	THBD	c.1689G>A (p.Leu563=)
20	g.23047817A=	CA2355680745	THBD	c.1688T= (p.Leu563=)
20	g.23047817A>C	CA408405011	THBD	c.1688T>G (p.Leu563Arg)	gnomAD v4
20	g.23047817A>G	CA408405012	THBD	c.1688T>C (p.Leu563Pro)
20	g.23047817A>T	CA408405013	THBD	c.1688T>A (p.Leu563Gln)	dbSNP gnomAD v2 gnomAD v4
20	g.23047817dup	CA2580098041	THBD	c.1688dup (p.Gln564AlafsTer?)	ClinVar gnomAD v4
20	g.23047818G>A	CA510160439	THBD	c.1687C>T (p.Leu563=)	gnomAD v4
20	g.23047818G>C	CA408405014	THBD	c.1687C>G (p.Leu563Val)
20	g.23047818G>T	CA408405015	THBD	c.1687C>A (p.Leu563Met)	gnomAD v4
20	g.23047818_23047819delinsAGG	CA2695229379	THBD	c.1686_1687delinsCCT (p.Gln564AlafsTer?)
20	g.23047819C>A	CA510160448	THBD	c.1686G>T (p.Val562=)
20	g.23047819C=	CA2355680746	THBD	c.1686G= (p.Val562=)
20	g.23047819C>G	CA510160444	THBD	c.1686G>C (p.Val562=)	gnomAD v4
20	g.23047819C>T	CA510160443	THBD	c.1686G>A (p.Val562=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047820A=	CA2355680747	THBD	c.1685T= (p.Val562=)
20	g.23047820A>C	CA408405016	THBD	c.1685T>G (p.Val562Gly)
20	g.23047820A>G	CA408405017	THBD	c.1685T>C (p.Val562Ala)	gnomAD v4
20	g.23047820A>T	CA408405018	THBD	c.1685T>A (p.Val562Glu)	dbSNP gnomAD v2 gnomAD v4
20	g.23047821C>A	CA408405019	THBD	c.1684G>T (p.Val562Leu)	gnomAD v4
20	g.23047821C=	CA2355680748	THBD	c.1684G= (p.Val562=)
20	g.23047821C>G	CA408405020	THBD	c.1684G>C (p.Val562Leu)	gnomAD v4
20	g.23047821C>T	CA408405021	THBD	c.1684G>A (p.Val562Met)	dbSNP gnomAD v2
20	g.23047822T>A	CA510160453	THBD	c.1683A>T (p.Val561=)	dbSNP gnomAD v2 gnomAD v4
20	g.23047822T>C	CA510160454	THBD	c.1683A>G (p.Val561=)	gnomAD v4
20	g.23047822T>G	CA510160455	THBD	c.1683A>C (p.Val561=)
20	g.23047822T=	CA2355680749	THBD	c.1683A= (p.Val561=)
20	g.23047823A>C	CA408405022	THBD	c.1682T>G (p.Val561Gly)
20	g.23047823A>G	CA408405023	THBD	c.1682T>C (p.Val561Ala)
20	g.23047823A>T	CA408405024	THBD	c.1682T>A (p.Val561Glu)
20	g.23047824C>A	CA408405025	THBD	c.1681G>T (p.Val561Leu)	gnomAD v4
20	g.23047824C>G	CA408405026	THBD	c.1681G>C (p.Val561Leu)
20	g.23047824C>T	CA408405027	THBD	c.1681G>A (p.Val561Ile)	gnomAD v4
20	g.23047825C>A	CA408405028	THBD	c.1680G>T (p.Glu560Asp)	gnomAD v4
20	g.23047825C=	CA2355680750	THBD	c.1680G= (p.Glu560=)
20	g.23047825C>G	CA408405029	THBD	c.1680G>C (p.Glu560Asp)
20	g.23047825C>T	CA510160458	THBD	c.1680G>A (p.Glu560=)	dbSNP gnomAD v2 gnomAD v4
20	g.23047826T>A	CA408405030	THBD	c.1679A>T (p.Glu560Val)
20	g.23047826T>C	CA408405031	THBD	c.1679A>G (p.Glu560Gly)
20	g.23047826T>G	CA408405032	THBD	c.1679A>C (p.Glu560Ala)
20	g.23047827C>A	CA408405033	THBD	c.1678G>T (p.Glu560Ter)	gnomAD v4
20	g.23047827C=	CA2355680751	THBD	c.1678G= (p.Glu560=)
20	g.23047827C>G	CA9787512	THBD	c.1678G>C (p.Glu560Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047827C>T	CA9787513	THBD	c.1678G>A (p.Glu560Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047828C>A	CA408405035	THBD	c.1677G>T (p.Lys559Asn)	gnomAD v4
20	g.23047828C=	CA2355680752	THBD	c.1677G= (p.Lys559=)
20	g.23047828C>G	CA408405034	THBD	c.1677G>C (p.Lys559Asn)
20	g.23047828C>T	CA510160467	THBD	c.1677G>A (p.Lys559=)	dbSNP gnomAD v2
20	g.23047829T>A	CA408405036	THBD	c.1676A>T (p.Lys559Met)	gnomAD v4
20	g.23047829T>C	CA408405037	THBD	c.1676A>G (p.Lys559Arg)
20	g.23047829T>G	CA408405038	THBD	c.1676A>C (p.Lys559Thr)
20	g.23047830T>A	CA408405039	THBD	c.1675A>T (p.Lys559Ter)
20	g.23047830T>C	CA408405040	THBD	c.1675A>G (p.Lys559Glu)	dbSNP
20	g.23047830T>G	CA408405041	THBD	c.1675A>C (p.Lys559Gln)
20	g.23047830T=	CA2355680753	THBD	c.1675A= (p.Lys559=)
20	g.23047831G>A	CA510160475	THBD	c.1674C>T (p.Ser558=)
20	g.23047831G>C	CA510160476	THBD	c.1674C>G (p.Ser558=)	ClinVar dbSNP
20	g.23047831G=	CA2355680754	THBD	c.1674C= (p.Ser558=)
20	g.23047831G>T	CA510160477	THBD	c.1674C>A (p.Ser558=)	gnomAD v4
20	g.23047832G>A	CA408405044	THBD	c.1673C>T (p.Ser558Phe)
20	g.23047832G>C	CA408405042	THBD	c.1673C>G (p.Ser558Cys)
20	g.23047832G>T	CA408405043	THBD	c.1673C>A (p.Ser558Tyr)
20	g.23047833A=	CA2355680755	THBD	c.1672T= (p.Ser558=)
20	g.23047833A>C	CA408405045	THBD	c.1672T>G (p.Ser558Ala)
20	g.23047833A>G	CA9787514	THBD	c.1672T>C (p.Ser558Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047833A>T	CA408405046	THBD	c.1672T>A (p.Ser558Thr)
20	g.23047834A=	CA2355680756	THBD	c.1671T= (p.Pro557=)
20	g.23047834A>C	CA510160483	THBD	c.1671T>G (p.Pro557=)
20	g.23047834A>G	CA510160484	THBD	c.1671T>C (p.Pro557=)
20	g.23047834A>T	CA9787515	THBD	c.1671T>A (p.Pro557=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047835G>A	CA408405047	THBD	c.1670C>T (p.Pro557Leu)	gnomAD v4
20	g.23047835G>C	CA408405048	THBD	c.1670C>G (p.Pro557Arg)	gnomAD v4
20	g.23047835G=	CA2355680757	THBD	c.1670C= (p.Pro557=)
20	g.23047835G>T	CA408405049	THBD	c.1670C>A (p.Pro557His)	dbSNP gnomAD v4 COSMIC
20	g.23047836G>A	CA408405050	THBD	c.1669C>T (p.Pro557Ser)	ClinVar dbSNP gnomAD v4
20	g.23047836G>C	CA9787516	THBD	c.1669C>G (p.Pro557Ala)	dbSNP ExAC
20	g.23047836G=	CA2355680758	THBD	c.1669C= (p.Pro557=)
20	g.23047836G>T	CA408405051	THBD	c.1669C>A (p.Pro557Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047837G>A	CA510160493	THBD	c.1668C>T (p.Ala556=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047837G>C	CA510160495	THBD	c.1668C>G (p.Ala556=)
20	g.23047837G=	CA2355680759	THBD	c.1668C= (p.Ala556=)
20	g.23047837G>T	CA510160496	THBD	c.1668C>A (p.Ala556=)
20	g.23047838G>A	CA408405052	THBD	c.1667C>T (p.Ala556Val)
20	g.23047838G>C	CA408405053	THBD	c.1667C>G (p.Ala556Gly)	gnomAD v4
20	g.23047838G=	CA2355680760	THBD	c.1667C= (p.Ala556=)
20	g.23047838G>T	CA408405054	THBD	c.1667C>A (p.Ala556Asp)
20	g.23047839C>A	CA408405055	THBD	c.1666G>T (p.Ala556Ser)
20	g.23047839C=	CA2355680761	THBD	c.1666G= (p.Ala556=)
20	g.23047839C>G	CA408405057	THBD	c.1666G>C (p.Ala556Pro)
20	g.23047839C>T	CA408405056	THBD	c.1666G>A (p.Ala556Thr)	dbSNP gnomAD v2 gnomAD v4
20	g.23047839_23047840dup	CA742233596	THBD	c.1665_1666dup (p.Ala556GlyfsTer7)	dbSNP
20	g.23047840C>A	CA510160504	THBD	c.1665G>T (p.Ala555=)	gnomAD v4
20	g.23047840C=	CA2355680762	THBD	c.1665G= (p.Ala555=)
20	g.23047840C>G	CA510160502	THBD	c.1665G>C (p.Ala555=)
20	g.23047840C>T	CA510160501	THBD	c.1665G>A (p.Ala555=)	ClinVar dbSNP gnomAD v4
20	g.23047841G>A	CA408405058	THBD	c.1664C>T (p.Ala555Val)	gnomAD v4 COSMIC
20	g.23047841G>C	CA408405059	THBD	c.1664C>G (p.Ala555Gly)
20	g.23047841G>T	CA408405060	THBD	c.1664C>A (p.Ala555Glu)
20	g.23047842C>A	CA313550284	THBD	c.1663G>T (p.Ala555Ser)	dbSNP gnomAD v4
20	g.23047842C=	CA2355680763	THBD	c.1663G= (p.Ala555=)
20	g.23047842C>G	CA408405061	THBD	c.1663G>C (p.Ala555Pro)
20	g.23047842C>T	CA408405062	THBD	c.1663G>A (p.Ala555Thr)	gnomAD v4
20	g.23047843G>A	CA313550287	THBD	c.1662C>T (p.Cys554=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20	g.23047843G>C	CA408405064	THBD	c.1662C>G (p.Cys554Trp)
20	g.23047843G=	CA2355680764	THBD	c.1662C= (p.Cys554=)
20	g.23047843G>T	CA408405063	THBD	c.1662C>A (p.Cys554Ter)	gnomAD v4
20	g.23047844C>A	CA408405065	THBD	c.1661G>T (p.Cys554Phe)	dbSNP gnomAD v2 gnomAD v4
20	g.23047844C=	CA2355680765	THBD	c.1661G= (p.Cys554=)
20	g.23047844C>G	CA408405066	THBD	c.1661G>C (p.Cys554Ser)
20	g.23047844C>T	CA408405067	THBD	c.1661G>A (p.Cys554Tyr)
20	g.23047845A=	CA2355680767	THBD	c.1660T= (p.Cys554=)
20	g.23047845A>C	CA408405068	THBD	c.1660T>G (p.Cys554Gly)	dbSNP gnomAD v4
20	g.23047845A>G	CA408405069	THBD	c.1660T>C (p.Cys554Arg)
20	g.23047845A>T	CA408405070	THBD	c.1660T>A (p.Cys554Ser)
20	g.23047845_23047894delinsACTTGTACTCCATCTTGGCCCTGGCGGCGCCCTGCTTCTTGCGCAGGTGG	CA2355680766	THBD	c.1611_1660delinsCCACCTGCGCAAGAAGCAGGGCGCCGCCAGGGCCAAGATGGAGTACAAGT (p.Cys537=)
20	g.23047846C>A	CA408405071	THBD	c.1659G>T (p.Lys553Asn)
20	g.23047846C=	CA2355680768	THBD	c.1659G= (p.Lys553=)
20	g.23047846C>G	CA408405072	THBD	c.1659G>C (p.Lys553Asn)
20	g.23047846C>T	CA9787517	THBD	c.1659G>A (p.Lys553=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047847_23047895del	CA742233612	THBD	c.1611_1659del (p.His538AlafsTer8)	dbSNP
20	g.23047847T>A	CA408405073	THBD	c.1658A>T (p.Lys553Met)
20	g.23047847T>C	CA408405074	THBD	c.1658A>G (p.Lys553Arg)
20	g.23047847T>G	CA408405075	THBD	c.1658A>C (p.Lys553Thr)
20	g.23047848T>A	CA408405076	THBD	c.1657A>T (p.Lys553Ter)
20	g.23047848T>C	CA408405077	THBD	c.1657A>G (p.Lys553Glu)
20	g.23047848T>G	CA408405078	THBD	c.1657A>C (p.Lys553Gln)
20	g.23047849G>A	CA510160546	THBD	c.1656C>T (p.Tyr552=)	gnomAD v4
20	g.23047849G>C	CA408405079	THBD	c.1656C>G (p.Tyr552Ter)
20	g.23047849G>T	CA408405080	THBD	c.1656C>A (p.Tyr552Ter)	gnomAD v4
20	g.23047850T>A	CA408405081	THBD	c.1655A>T (p.Tyr552Phe)
20	g.23047850T>C	CA9787518	THBD	c.1655A>G (p.Tyr552Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047850T>G	CA408405082	THBD	c.1655A>C (p.Tyr552Ser)
20	g.23047850T=	CA2355680769	THBD	c.1655A= (p.Tyr552=)
20	g.23047851A=	CA2355680770	THBD	c.1654T= (p.Tyr552=)
20	g.23047851A>C	CA408405084	THBD	c.1654T>G (p.Tyr552Asp)
20	g.23047851A>G	CA408405085	THBD	c.1654T>C (p.Tyr552His)	dbSNP
20	g.23047851A>T	CA408405083	THBD	c.1654T>A (p.Tyr552Asn)
20	g.23047852C>A	CA408405087	THBD	c.1653G>T (p.Glu551Asp)	gnomAD v4
20	g.23047852C=	CA2355680771	THBD	c.1653G= (p.Glu551=)
20	g.23047852C>G	CA408405086	THBD	c.1653G>C (p.Glu551Asp)
20	g.23047852C>T	CA510160559	THBD	c.1653G>A (p.Glu551=)	dbSNP gnomAD v2 gnomAD v4
20	g.23047853T>A	CA408405090	THBD	c.1652A>T (p.Glu551Val)	dbSNP gnomAD v3 gnomAD v4
20	g.23047853T>C	CA408405088	THBD	c.1652A>G (p.Glu551Gly)	dbSNP
20	g.23047853T>G	CA408405089	THBD	c.1652A>C (p.Glu551Ala)
20	g.23047853T=	CA2355680772	THBD	c.1652A= (p.Glu551=)
20	g.23047854C>A	CA408405091	THBD	c.1651G>T (p.Glu551Ter)
20	g.23047854C>G	CA408405092	THBD	c.1651G>C (p.Glu551Gln)
20	g.23047854C>T	CA408405093	THBD	c.1651G>A (p.Glu551Lys)
20	g.23047855C>A	CA408405094	THBD	c.1650G>T (p.Met550Ile)	gnomAD v4
20	g.23047855C>G	CA408405095	THBD	c.1650G>C (p.Met550Ile)
20	g.23047855C>T	CA408405096	THBD	c.1650G>A (p.Met550Ile)
20	g.23047856A=	CA2355680773	THBD	c.1649T= (p.Met550=)
20	g.23047856A>C	CA408405097	THBD	c.1649T>G (p.Met550Arg)
20	g.23047856A>G	CA9787519	THBD	c.1649T>C (p.Met550Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047856A>T	CA408405098	THBD	c.1649T>A (p.Met550Lys)
20	g.23047857T>A	CA408405099	THBD	c.1648A>T (p.Met550Leu)	gnomAD v4
20	g.23047857T>C	CA408405100	THBD	c.1648A>G (p.Met550Val)
20	g.23047857T>G	CA408405101	THBD	c.1648A>C (p.Met550Leu)
20	g.23047858C>A	CA408405102	THBD	c.1647G>T (p.Lys549Asn)	gnomAD v4
20	g.23047858C>G	CA408405103	THBD	c.1647G>C (p.Lys549Asn)
20	g.23047858C>T	CA510160579	THBD	c.1647G>A (p.Lys549=)	gnomAD v4

Number of alleles fetched