Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.23047788_23047808delinsGCGGCGTCCGCTCGGTCCGCA	CA2355680720	THBD	c.1697_1717delinsTGCGGACCGAGCGGACGCCGC (p.Val566=)
20	g.23047791_23047810del	CA635265767	THBD	c.1697_1716del (p.Val566AlafsTer?)	dbSNP gnomAD v2 gnomAD v4
20	g.23047794_23047797del	CA2652141632	THBD	c.1710_1713del (p.Thr571ArgfsTer?)	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
20	g.23047859T>A	CA408405104	THBD	c.1646A>T (p.Lys549Met)
20	g.23047859T>C	CA408405105	THBD	c.1646A>G (p.Lys549Arg)	gnomAD v4
20	g.23047859T>G	CA408405106	THBD	c.1646A>C (p.Lys549Thr)	dbSNP gnomAD v4
20	g.23047859T=	CA2355680774	THBD	c.1646A= (p.Lys549=)
20	g.23047860T>A	CA408405107	THBD	c.1645A>T (p.Lys549Ter)
20	g.23047860T>C	CA408405108	THBD	c.1645A>G (p.Lys549Glu)
20	g.23047860T>G	CA408405109	THBD	c.1645A>C (p.Lys549Gln)
20	g.23047861G>A	CA510160591	THBD	c.1644C>T (p.Ala548=)
20	g.23047861G>C	CA510160592	THBD	c.1644C>G (p.Ala548=)
20	g.23047861G>T	CA510160595	THBD	c.1644C>A (p.Ala548=)	gnomAD v4
20	g.23047862G>A	CA408405110	THBD	c.1643C>T (p.Ala548Val)
20	g.23047862G>C	CA408405111	THBD	c.1643C>G (p.Ala548Gly)	gnomAD v4
20	g.23047862G>T	CA408405112	THBD	c.1643C>A (p.Ala548Asp)	ClinVar gnomAD v4
20	g.23047863C>A	CA408405113	THBD	c.1642G>T (p.Ala548Ser)	gnomAD v4
20	g.23047863C>G	CA408405114	THBD	c.1642G>C (p.Ala548Pro)
20	g.23047863C>T	CA408405115	THBD	c.1642G>A (p.Ala548Thr)	gnomAD v4
20	g.23047864C>A	CA408405116	THBD	c.1641G>T (p.Arg547Ser)	gnomAD v4
20	g.23047864C>G	CA408405117	THBD	c.1641G>C (p.Arg547Ser)
20	g.23047864C>T	CA510160608	THBD	c.1641G>A (p.Arg547=)
20	g.23047865C>A	CA408405118	THBD	c.1640G>T (p.Arg547Met)
20	g.23047865C>G	CA408405119	THBD	c.1640G>C (p.Arg547Thr)
20	g.23047865C>T	CA408405120	THBD	c.1640G>A (p.Arg547Lys)
20	g.23047866T>A	CA408405121	THBD	c.1639A>T (p.Arg547Trp)
20	g.23047866T>C	CA408405122	THBD	c.1639A>G (p.Arg547Gly)
20	g.23047866T>G	CA510160610	THBD	c.1639A>C (p.Arg547=)
20	g.23047867G>A	CA510160614	THBD	c.1638C>T (p.Ala546=)	gnomAD v4
20	g.23047867G>C	CA510160618	THBD	c.1638C>G (p.Ala546=)	gnomAD v4
20	g.23047867G>T	CA510160615	THBD	c.1638C>A (p.Ala546=)
20	g.23047868G>A	CA408405124	THBD	c.1637C>T (p.Ala546Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.23047868G>C	CA9787520	THBD	c.1637C>G (p.Ala546Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047868G=	CA2355680775	THBD	c.1637C= (p.Ala546=)
20	g.23047868G>T	CA408405123	THBD	c.1637C>A (p.Ala546Asp)
20	g.23047869C>A	CA313550298	THBD	c.1636G>T (p.Ala546Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047869C=	CA2355680776	THBD	c.1636G= (p.Ala546=)
20	g.23047869C>G	CA408405125	THBD	c.1636G>C (p.Ala546Pro)
20	g.23047869C>T	CA408405126	THBD	c.1636G>A (p.Ala546Thr)	dbSNP gnomAD v4
20	g.23047870G>A	CA510160626	THBD	c.1635C>T (p.Ala545=)	dbSNP gnomAD v2 gnomAD v4
20	g.23047870G>C	CA510160628	THBD	c.1635C>G (p.Ala545=)
20	g.23047870G=	CA2355680777	THBD	c.1635C= (p.Ala545=)
20	g.23047870G>T	CA510160629	THBD	c.1635C>A (p.Ala545=)	gnomAD v4
20	g.23047871G>A	CA9787521	THBD	c.1634C>T (p.Ala545Val)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047871G>C	CA408405127	THBD	c.1634C>G (p.Ala545Gly)
20	g.23047871G=	CA2355680778	THBD	c.1634C= (p.Ala545=)
20	g.23047871G>T	CA408405128	THBD	c.1634C>A (p.Ala545Asp)
20	g.23047872_23047897del	CA2652141635	THBD	c.1609_1634del (p.Cys537ArgfsTer?)	gnomAD v4
20	g.23047872C>A	CA408405129	THBD	c.1633G>T (p.Ala545Ser)	gnomAD v4
20	g.23047872C=	CA2355680779	THBD	c.1633G= (p.Ala545=)
20	g.23047872C>G	CA408405131	THBD	c.1633G>C (p.Ala545Pro)
20	g.23047872C>T	CA408405130	THBD	c.1633G>A (p.Ala545Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.23047873G>A	CA510160639	THBD	c.1632C>T (p.Gly544=)	COSMIC
20	g.23047873G>C	CA510160637	THBD	c.1632C>G (p.Gly544=)
20	g.23047873G=	CA2355680780	THBD	c.1632C= (p.Gly544=)
20	g.23047873G>T	CA313550314	THBD	c.1632C>A (p.Gly544=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047874C>A	CA408405132	THBD	c.1631G>T (p.Gly544Val)
20	g.23047874C>G	CA408405133	THBD	c.1631G>C (p.Gly544Ala)
20	g.23047874C>T	CA408405134	THBD	c.1631G>A (p.Gly544Asp)	gnomAD v4
20	g.23047875C>A	CA408405135	THBD	c.1630G>T (p.Gly544Cys)
20	g.23047875C>G	CA408405136	THBD	c.1630G>C (p.Gly544Arg)
20	g.23047875C>T	CA408405137	THBD	c.1630G>A (p.Gly544Ser)
20	g.23047876C>A	CA408405138	THBD	c.1629G>T (p.Gln543His)	gnomAD v4
20	g.23047876C>G	CA408405139	THBD	c.1629G>C (p.Gln543His)	dbSNP
20	g.23047876C>T	CA510160652	THBD	c.1629G>A (p.Gln543=)	gnomAD v4
20	g.23047877T>A	CA408405140	THBD	c.1628A>T (p.Gln543Leu)
20	g.23047877T>C	CA408405141	THBD	c.1628A>G (p.Gln543Arg)	dbSNP gnomAD v4
20	g.23047877T>G	CA408405142	THBD	c.1628A>C (p.Gln543Pro)
20	g.23047877T=	CA2355680781	THBD	c.1628A= (p.Gln543=)
20	g.23047878G>A	CA408405145	THBD	c.1627C>T (p.Gln543Ter)
20	g.23047878G>C	CA408405144	THBD	c.1627C>G (p.Gln543Glu)
20	g.23047878G>T	CA408405143	THBD	c.1627C>A (p.Gln543Lys)
20	g.23047879C>A	CA408405147	THBD	c.1626G>T (p.Lys542Asn)
20	g.23047879C>G	CA408405146	THBD	c.1626G>C (p.Lys542Asn)
20	g.23047879C>T	CA510160660	THBD	c.1626G>A (p.Lys542=)
20	g.23047880T>A	CA408405148	THBD	c.1625A>T (p.Lys542Met)
20	g.23047880T>C	CA408405149	THBD	c.1625A>G (p.Lys542Arg)
20	g.23047880T>G	CA408405150	THBD	c.1625A>C (p.Lys542Thr)
20	g.23047881T>A	CA408405151	THBD	c.1624A>T (p.Lys542Ter)
20	g.23047881T>C	CA408405152	THBD	c.1624A>G (p.Lys542Glu)
20	g.23047881T>G	CA408405153	THBD	c.1624A>C (p.Lys542Gln)
20	g.23047882C>A	CA408405154	THBD	c.1623G>T (p.Lys541Asn)	gnomAD v4
20	g.23047882C>G	CA408405155	THBD	c.1623G>C (p.Lys541Asn)
20	g.23047882C>T	CA510160672	THBD	c.1623G>A (p.Lys541=)
20	g.23047883T>A	CA408405156	THBD	c.1622A>T (p.Lys541Met)
20	g.23047883T>C	CA408405157	THBD	c.1622A>G (p.Lys541Arg)
20	g.23047883T>G	CA408405158	THBD	c.1622A>C (p.Lys541Thr)
20	g.23047884T>A	CA408405159	THBD	c.1621A>T (p.Lys541Ter)
20	g.23047884T>C	CA408405160	THBD	c.1621A>G (p.Lys541Glu)
20	g.23047884T>G	CA408405161	THBD	c.1621A>C (p.Lys541Gln)
20	g.23047885G>A	CA510160683	THBD	c.1620C>T (p.Arg540=)
20	g.23047885G>C	CA9787522	THBD	c.1620C>G (p.Arg540=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047885G=	CA2355680782	THBD	c.1620C= (p.Arg540=)
20	g.23047885G>T	CA510160684	THBD	c.1620C>A (p.Arg540=)
20	g.23047886C>A	CA408405162	THBD	c.1619G>T (p.Arg540Leu)	dbSNP gnomAD v4
20	g.23047886C=	CA2355680783	THBD	c.1619G= (p.Arg540=)
20	g.23047886C>G	CA408405163	THBD	c.1619G>C (p.Arg540Pro)	gnomAD v4
20	g.23047886C>T	CA9787523	THBD	c.1619G>A (p.Arg540His)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.23047887G>A	CA408405164	THBD	c.1618C>T (p.Arg540Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047887G>C	CA408405165	THBD	c.1618C>G (p.Arg540Gly)	gnomAD v4
20	g.23047887G=	CA2355680784	THBD	c.1618C= (p.Arg540=)
20	g.23047887G>T	CA408405166	THBD	c.1618C>A (p.Arg540Ser)	dbSNP gnomAD v2 gnomAD v4
20	g.23047888C>A	CA510160697	THBD	c.1617G>T (p.Leu539=)
20	g.23047888C=	CA2355680785	THBD	c.1617G= (p.Leu539=)
20	g.23047888C>G	CA510160696	THBD	c.1617G>C (p.Leu539=)	ClinVar dbSNP gnomAD v3 gnomAD v4
20	g.23047888C>T	CA9787524	THBD	c.1617G>A (p.Leu539=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047889A>C	CA408405167	THBD	c.1616T>G (p.Leu539Arg)
20	g.23047889A>G	CA408405168	THBD	c.1616T>C (p.Leu539Pro)	gnomAD v4
20	g.23047889A>T	CA408405169	THBD	c.1616T>A (p.Leu539Gln)
20	g.23047890G>A	CA510160705	THBD	c.1615C>T (p.Leu539=)
20	g.23047890G>C	CA408405170	THBD	c.1615C>G (p.Leu539Val)	dbSNP gnomAD v2 gnomAD v4
20	g.23047890G=	CA2355680786	THBD	c.1615C= (p.Leu539=)
20	g.23047890G>T	CA408405171	THBD	c.1615C>A (p.Leu539Met)
20	g.23047891G>A	CA510160708	THBD	c.1614C>T (p.His538=)	dbSNP gnomAD v2 gnomAD v4
20	g.23047891G>C	CA408405172	THBD	c.1614C>G (p.His538Gln)	gnomAD v4
20	g.23047891G=	CA2355680787	THBD	c.1614C= (p.His538=)
20	g.23047891G>T	CA408405173	THBD	c.1614C>A (p.His538Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.23047892_23047902dup	CA2577353596	THBD	c.1604_1614dup (p.Leu539SerfsTer27)
20	g.23047892T>A	CA408405174	THBD	c.1613A>T (p.His538Leu)	gnomAD v4
20	g.23047892T>C	CA408405176	THBD	c.1613A>G (p.His538Arg)
20	g.23047892T>G	CA408405175	THBD	c.1613A>C (p.His538Pro)
20	g.23047893G>A	CA408405177	THBD	c.1612C>T (p.His538Tyr)	dbSNP gnomAD v4
20	g.23047893G>C	CA408405178	THBD	c.1612C>G (p.His538Asp)
20	g.23047893G>T	CA408405179	THBD	c.1612C>A (p.His538Asn)	gnomAD v4
20	g.23047894G>A	CA510160720	THBD	c.1611C>T (p.Cys537=)	dbSNP
20	g.23047894G>C	CA408405180	THBD	c.1611C>G (p.Cys537Trp)
20	g.23047894G=	CA2355680788	THBD	c.1611C= (p.Cys537=)
20	g.23047894G>T	CA408405181	THBD	c.1611C>A (p.Cys537Ter)	ClinVar dbSNP
20	g.23047895C>A	CA408405182	THBD	c.1610G>T (p.Cys537Phe)
20	g.23047895C=	CA2355680789	THBD	c.1610G= (p.Cys537=)
20	g.23047895C>G	CA408405183	THBD	c.1610G>C (p.Cys537Ser)
20	g.23047895C>T	CA408405184	THBD	c.1610G>A (p.Cys537Tyr)	dbSNP gnomAD v2
20	g.23047896A>C	CA408405185	THBD	c.1609T>G (p.Cys537Gly)
20	g.23047896A>G	CA408405186	THBD	c.1609T>C (p.Cys537Arg)	gnomAD v4
20	g.23047896A>T	CA408405187	THBD	c.1609T>A (p.Cys537Ser)

Number of alleles fetched