20 | g.23049190C>A | CA510160971 | THBD | c.315G>T (p.Leu105=)
| gnomAD v4 |
20 | g.23049190C>G | CA510160965 | THBD | c.315G>C (p.Leu105=)
| |
20 | g.23049190C>T | CA510160968 | THBD | c.315G>A (p.Leu105=)
| gnomAD v4 |
20 | g.23049191A>C | CA408407950 | THBD | c.314T>G (p.Leu105Arg)
| |
20 | g.23049191A>G | CA408407951 | THBD | c.314T>C (p.Leu105Pro)
| gnomAD v4 |
20 | g.23049191A>T | CA408407952 | THBD | c.314T>A (p.Leu105Gln)
| |
20 | g.23049192G>A | CA510160974 | THBD | c.313C>T (p.Leu105=)
| |
20 | g.23049192G>C | CA408407953 | THBD | c.313C>G (p.Leu105Val)
| gnomAD v4 |
20 | g.23049192G>T | CA408407954 | THBD | c.313C>A (p.Leu105Met)
| gnomAD v4 |
20 | g.23049193G>A | CA510160980 | THBD | c.312C>T (p.Pro104=)
| dbSNP gnomAD v4 |
20 | g.23049193G>C | CA313552209 | THBD | c.312C>G (p.Pro104=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049193G= | CA2355681432 | THBD | c.312C= (p.Pro104=)
| |
20 | g.23049193G>T | CA510160983 | THBD | c.312C>A (p.Pro104=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049194G>A | CA313552213 | THBD | c.311C>T (p.Pro104Leu)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049194G>C | CA408407955 | THBD | c.311C>G (p.Pro104Arg)
| |
20 | g.23049194G= | CA2355681433 | THBD | c.311C= (p.Pro104=)
| |
20 | g.23049194G>T | CA408407956 | THBD | c.311C>A (p.Pro104His)
| gnomAD v4 |
20 | g.23049195G>A | CA408407959 | THBD | c.310C>T (p.Pro104Ser)
| gnomAD v4 |
20 | g.23049195G>C | CA408407957 | THBD | c.310C>G (p.Pro104Ala)
| |
20 | g.23049195G>T | CA408407958 | THBD | c.310C>A (p.Pro104Thr)
| gnomAD v4 |
20 | g.23049196C>A | CA510160990 | THBD | c.309G>T (p.Gly103=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049196C= | CA2355681434 | THBD | c.309G= (p.Gly103=)
| |
20 | g.23049196C>G | CA510160996 | THBD | c.309G>C (p.Gly103=)
| |
20 | g.23049196C>T | CA510160993 | THBD | c.309G>A (p.Gly103=)
| |
20 | g.23049197C>A | CA408407960 | THBD | c.308G>T (p.Gly103Val)
| gnomAD v4 |
20 | g.23049197C>G | CA408407961 | THBD | c.308G>C (p.Gly103Ala)
| |
20 | g.23049197C>T | CA408407962 | THBD | c.308G>A (p.Gly103Glu)
| ClinVar gnomAD v4 |
20 | g.23049198C>A | CA408407963 | THBD | c.307G>T (p.Gly103Trp)
| |
20 | g.23049198C= | CA2355681435 | THBD | c.307G= (p.Gly103=)
| |
20 | g.23049198C>G | CA408407964 | THBD | c.307G>C (p.Gly103Arg)
| |
20 | g.23049198C>T | CA408407965 | THBD | c.307G>A (p.Gly103Arg)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049199G>A | CA510161005 | THBD | c.306C>T (p.Leu102=)
| |
20 | g.23049199G>C | CA510161007 | THBD | c.306C>G (p.Leu102=)
| |
20 | g.23049199G>T | CA510161009 | THBD | c.306C>A (p.Leu102=)
| gnomAD v4 |
20 | g.23049200A>C | CA408407966 | THBD | c.305T>G (p.Leu102Arg)
| |
20 | g.23049200A>G | CA408407967 | THBD | c.305T>C (p.Leu102Pro)
| gnomAD v4 |
20 | g.23049200A>T | CA408407968 | THBD | c.305T>A (p.Leu102His)
| |
20 | g.23049201G>A | CA408407969 | THBD | c.304C>T (p.Leu102Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049201G>C | CA408407970 | THBD | c.304C>G (p.Leu102Val)
| |
20 | g.23049201G= | CA2355681436 | THBD | c.304C= (p.Leu102=)
| |
20 | g.23049201G>T | CA408407971 | THBD | c.304C>A (p.Leu102Ile)
| gnomAD v4 |
20 | g.23049202G>A | CA510161012 | THBD | c.303C>T (p.Arg101=)
| |
20 | g.23049202G>C | CA510161014 | THBD | c.303C>G (p.Arg101=)
| |
20 | g.23049202G>T | CA510161015 | THBD | c.303C>A (p.Arg101=)
| |
20 | g.23049202_23049203insTGC | CA2544815474 | THBD | c.302_303insGCA (p.Arg101_Leu102insHis)
| |
20 | g.23049203C>A | CA9787757 | THBD | c.302G>T (p.Arg101Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049203C= | CA2355681437 | THBD | c.302G= (p.Arg101=)
| |
20 | g.23049203C>G | CA9787756 | THBD | c.302G>C (p.Arg101Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049203C>T | CA408407972 | THBD | c.302G>A (p.Arg101His)
| |
20 | g.23049204G>A | CA408407973 | THBD | c.301C>T (p.Arg101Cys)
| gnomAD v4 |
20 | g.23049204G>C | CA313552250 | THBD | c.301C>G (p.Arg101Gly)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049204G= | CA2355681438 | THBD | c.301C= (p.Arg101=)
| |
20 | g.23049204G>T | CA408407974 | THBD | c.301C>A (p.Arg101Ser)
| gnomAD v4 |
20 | g.23049205C>A | CA408407975 | THBD | c.300G>T (p.Lys100Asn)
| |
20 | g.23049205C>G | CA408407976 | THBD | c.300G>C (p.Lys100Asn)
| |
20 | g.23049205C>T | CA510161019 | THBD | c.300G>A (p.Lys100=)
| |
20 | g.23049206T>A | CA408407977 | THBD | c.299A>T (p.Lys100Met)
| |
20 | g.23049206T>C | CA408407978 | THBD | c.299A>G (p.Lys100Arg)
| gnomAD v4 |
20 | g.23049206T>G | CA408407979 | THBD | c.299A>C (p.Lys100Thr)
| |
20 | g.23049206_23049208del | CA2545326329 | THBD | c.297_299del (p.Lys100del)
| |
20 | g.23049207T>A | CA408407980 | THBD | c.298A>T (p.Lys100Ter)
| |
20 | g.23049207T>C | CA408407981 | THBD | c.298A>G (p.Lys100Glu)
| |
20 | g.23049207T>G | CA408407982 | THBD | c.298A>C (p.Lys100Gln)
| gnomAD v4 |
20 | g.23049208G>A | CA510161022 | THBD | c.297C>T (p.Pro99=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049208G>C | CA510161024 | THBD | c.297C>G (p.Pro99=)
| |
20 | g.23049208G= | CA2355681439 | THBD | c.297C= (p.Pro99=)
| |
20 | g.23049208G>T | CA510161023 | THBD | c.297C>A (p.Pro99=)
| |
20 | g.23049211del | CA2652141670 | THBD | c.297del (p.Lys100SerfsTer?)
| gnomAD v4 |
20 | g.23049209G>A | CA408407983 | THBD | c.296C>T (p.Pro99Leu)
| dbSNP |
20 | g.23049209G>C | CA408407984 | THBD | c.296C>G (p.Pro99Arg)
| |
20 | g.23049209G= | CA2355681440 | THBD | c.296C= (p.Pro99=)
| |
20 | g.23049209G>T | CA408407985 | THBD | c.296C>A (p.Pro99His)
| gnomAD v4 |
20 | g.23049210G>A | CA408407986 | THBD | c.295C>T (p.Pro99Ser)
| gnomAD v4 |
20 | g.23049210G>C | CA408407987 | THBD | c.295C>G (p.Pro99Ala)
| |
20 | g.23049210G>T | CA408407988 | THBD | c.295C>A (p.Pro99Thr)
| dbSNP gnomAD v4 |
20 | g.23049211G>A | CA510161028 | THBD | c.294C>T (p.Asp98=)
| |
20 | g.23049211G>C | CA408407989 | THBD | c.294C>G (p.Asp98Glu)
| |
20 | g.23049211G>T | CA408407990 | THBD | c.294C>A (p.Asp98Glu)
| |
20 | g.23049212T>A | CA408407991 | THBD | c.293A>T (p.Asp98Val)
| |
20 | g.23049212T>C | CA408407992 | THBD | c.293A>G (p.Asp98Gly)
| dbSNP |
20 | g.23049212T>G | CA408407993 | THBD | c.293A>C (p.Asp98Ala)
| |
20 | g.23049213C>A | CA408407994 | THBD | c.292G>T (p.Asp98Tyr)
| dbSNP gnomAD v4 |
20 | g.23049213C= | CA2355681441 | THBD | c.292G= (p.Asp98=)
| |
20 | g.23049213C>G | CA408407995 | THBD | c.292G>C (p.Asp98His)
| |
20 | g.23049213C>T | CA9787758 | THBD | c.292G>A (p.Asp98Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049214G>A | CA510161032 | THBD | c.291C>T (p.Gly97=)
| gnomAD v4 |
20 | g.23049214G>C | CA510161033 | THBD | c.291C>G (p.Gly97=)
| gnomAD v4 |
20 | g.23049214G>T | CA510161034 | THBD | c.291C>A (p.Gly97=)
| gnomAD v4 |
20 | g.23049215C>A | CA408407996 | THBD | c.290G>T (p.Gly97Val)
| gnomAD v4 |
20 | g.23049215C= | CA2355681442 | THBD | c.290G= (p.Gly97=)
| |
20 | g.23049215C>G | CA408407997 | THBD | c.290G>C (p.Gly97Ala)
| |
20 | g.23049215C>T | CA408407998 | THBD | c.290G>A (p.Gly97Asp)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049216C>A | CA408407999 | THBD | c.289G>T (p.Gly97Cys)
| |
20 | g.23049216C= | CA2355681443 | THBD | c.289G= (p.Gly97=)
| |
20 | g.23049216C>G | CA408408000 | THBD | c.289G>C (p.Gly97Arg)
| |
20 | g.23049216C>T | CA408408001 | THBD | c.289G>A (p.Gly97Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049217G>A | CA510161037 | THBD | c.288C>T (p.Cys96=)
| gnomAD v4 |
20 | g.23049217G>C | CA408408002 | THBD | c.288C>G (p.Cys96Trp)
| dbSNP gnomAD v2 |
20 | g.23049217G= | CA2355681444 | THBD | c.288C= (p.Cys96=)
| |
20 | g.23049217G>T | CA408408003 | THBD | c.288C>A (p.Cys96Ter)
| gnomAD v4 |
20 | g.23049218C>A | CA408408004 | THBD | c.287G>T (p.Cys96Phe)
| |
20 | g.23049218C= | CA2355681445 | THBD | c.287G= (p.Cys96=)
| |
20 | g.23049218C>G | CA408408005 | THBD | c.287G>C (p.Cys96Ser)
| |
20 | g.23049218C>T | CA408408006 | THBD | c.287G>A (p.Cys96Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049219A>C | CA408408007 | THBD | c.286T>G (p.Cys96Gly)
| |
20 | g.23049219A>G | CA408408008 | THBD | c.286T>C (p.Cys96Arg)
| |
20 | g.23049219A>T | CA408408009 | THBD | c.286T>A (p.Cys96Ser)
| |
20 | g.23049220G>A | CA510161038 | THBD | c.285C>T (p.Gly95=)
| |
20 | g.23049220G>C | CA510161040 | THBD | c.285C>G (p.Gly95=)
| dbSNP |
20 | g.23049220G= | CA2355681446 | THBD | c.285C= (p.Gly95=)
| |
20 | g.23049220G>T | CA510161043 | THBD | c.285C>A (p.Gly95=)
| gnomAD v4 |
20 | g.23049221C>A | CA408408010 | THBD | c.284G>T (p.Gly95Val)
| dbSNP |
20 | g.23049221C= | CA2355681447 | THBD | c.284G= (p.Gly95=)
| |
20 | g.23049221C>G | CA408408011 | THBD | c.284G>C (p.Gly95Ala)
| |
20 | g.23049221C>T | CA408408012 | THBD | c.284G>A (p.Gly95Asp)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049222C>A | CA408408013 | THBD | c.283G>T (p.Gly95Cys)
| gnomAD v4 |
20 | g.23049222C= | CA2355681448 | THBD | c.283G= (p.Gly95=)
| |
20 | g.23049222C>G | CA408408014 | THBD | c.283G>C (p.Gly95Arg)
| |
20 | g.23049222C>T | CA408408015 | THBD | c.283G>A (p.Gly95Ser)
| ClinVar dbSNP |
20 | g.23049223G>A | CA510161045 | THBD | c.282C>T (p.Pro94=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049223G>C | CA9787759 | THBD | c.282C>G (p.Pro94=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049223G= | CA2355681449 | THBD | c.282C= (p.Pro94=)
| |
20 | g.23049223G>T | CA510161047 | THBD | c.282C>A (p.Pro94=)
| |
20 | g.23049224G>A | CA408408018 | THBD | c.281C>T (p.Pro94Leu)
| gnomAD v4 |
20 | g.23049224G>C | CA408408016 | THBD | c.281C>G (p.Pro94Arg)
| |
20 | g.23049224G>T | CA408408017 | THBD | c.281C>A (p.Pro94His)
| dbSNP |
20 | g.23049225G>A | CA408408019 | THBD | c.280C>T (p.Pro94Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049225G>C | CA408408020 | THBD | c.280C>G (p.Pro94Ala)
| |
20 | g.23049225G= | CA2355681450 | THBD | c.280C= (p.Pro94=)
| |
20 | g.23049225G>T | CA408408021 | THBD | c.280C>A (p.Pro94Thr)
| |
20 | g.23049226T>A | CA510161049 | THBD | c.279A>T (p.Pro93=)
| |
20 | g.23049226T>C | CA9787760 | THBD | c.279A>G (p.Pro93=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049226T>G | CA510161050 | THBD | c.279A>C (p.Pro93=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049226T= | CA2355681451 | THBD | c.279A= (p.Pro93=)
| |
20 | g.23049227G>A | CA408408022 | THBD | c.278C>T (p.Pro93Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049227G>C | CA408408023 | THBD | c.278C>G (p.Pro93Arg)
| |
20 | g.23049227G= | CA2355681452 | THBD | c.278C= (p.Pro93=)
| |
20 | g.23049227G>T | CA408408024 | THBD | c.278C>A (p.Pro93Gln)
| |
20 | g.23049228G>A | CA408408025 | THBD | c.277C>T (p.Pro93Ser)
| |
20 | g.23049228G>C | CA408408026 | THBD | c.277C>G (p.Pro93Ala)
| |
20 | g.23049228G= | CA2355681453 | THBD | c.277C= (p.Pro93=)
| |
20 | g.23049228G>T | CA9787761 | THBD | c.277C>A (p.Pro93Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049229C>A | CA510161057 | THBD | c.276G>T (p.Leu92=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049229C= | CA2355681454 | THBD | c.276G= (p.Leu92=)
| |
20 | g.23049229C>G | CA510161058 | THBD | c.276G>C (p.Leu92=)
| |
20 | g.23049229C>T | CA510161059 | THBD | c.276G>A (p.Leu92=)
| gnomAD v4 |
20 | g.23049230del | CA2815567350 | THBD | c.275del (p.Leu92ArgfsTer?)
| |
20 | g.23049230A>C | CA408408027 | THBD | c.275T>G (p.Leu92Arg)
| gnomAD v3 gnomAD v4 |
20 | g.23049230A>G | CA408408028 | THBD | c.275T>C (p.Leu92Pro)
| |
20 | g.23049230A>T | CA408408029 | THBD | c.275T>A (p.Leu92Gln)
| |
20 | g.23049231G>A | CA510161060 | THBD | c.274C>T (p.Leu92=)
| gnomAD v4 |
20 | g.23049231G>C | CA408408030 | THBD | c.274C>G (p.Leu92Val)
| gnomAD v4 |
20 | g.23049231G>T | CA408408031 | THBD | c.274C>A (p.Leu92Met)
| |
20 | g.23049232C>A | CA408408032 | THBD | c.273G>T (p.Gln91His)
| dbSNP |
20 | g.23049232C= | CA2355681455 | THBD | c.273G= (p.Gln91=)
| |
20 | g.23049232C>G | CA408408033 | THBD | c.273G>C (p.Gln91His)
| |
20 | g.23049232C>T | CA510161063 | THBD | c.273G>A (p.Gln91=)
| dbSNP gnomAD v4 |
20 | g.23049232_23049233insCAGTGCG | CA920182039 | THBD | c.272_273insCGCACTG (p.Gln91HisfsTer32)
| dbSNP |
20 | g.23049233T>A | CA408408034 | THBD | c.272A>T (p.Gln91Leu)
| |
20 | g.23049233T>C | CA408408035 | THBD | c.272A>G (p.Gln91Arg)
| |
20 | g.23049233T>G | CA408408036 | THBD | c.272A>C (p.Gln91Pro)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049233T= | CA2355681456 | THBD | c.272A= (p.Gln91=)
| |
20 | g.23049234G>A | CA408408037 | THBD | c.271C>T (p.Gln91Ter)
| gnomAD v4 |
20 | g.23049234G>C | CA408408038 | THBD | c.271C>G (p.Gln91Glu)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049234G= | CA2355681457 | THBD | c.271C= (p.Gln91=)
| |
20 | g.23049234G>T | CA408408039 | THBD | c.271C>A (p.Gln91Lys)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049235C>A | CA510161069 | THBD | c.270G>T (p.Leu90=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049235C= | CA2355681458 | THBD | c.270G= (p.Leu90=)
| |
20 | g.23049235C>G | CA510161070 | THBD | c.270G>C (p.Leu90=)
| |
20 | g.23049235C>T | CA510161072 | THBD | c.270G>A (p.Leu90=)
| gnomAD v4 |
20 | g.23049236A>C | CA408408042 | THBD | c.269T>G (p.Leu90Arg)
| |
20 | g.23049236A>G | CA408408040 | THBD | c.269T>C (p.Leu90Pro)
| |
20 | g.23049236A>T | CA408408041 | THBD | c.269T>A (p.Leu90Gln)
| |
20 | g.23049237G>A | CA510161076 | THBD | c.268C>T (p.Leu90=)
| gnomAD v4 |
20 | g.23049237G>C | CA408408043 | THBD | c.268C>G (p.Leu90Val)
| |
20 | g.23049237G>T | CA408408044 | THBD | c.268C>A (p.Leu90Met)
| |
20 | g.23049238G>A | CA313552272 | THBD | c.267C>T (p.Gly89=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049238G>C | CA510161078 | THBD | c.267C>G (p.Gly89=)
| |
20 | g.23049238G= | CA2355681459 | THBD | c.267C= (p.Gly89=)
| |
20 | g.23049238G>T | CA510161079 | THBD | c.267C>A (p.Gly89=)
| |
20 | g.23049239C>A | CA408408045 | THBD | c.266G>T (p.Gly89Val)
| |
20 | g.23049239C>G | CA408408046 | THBD | c.266G>C (p.Gly89Ala)
| |
20 | g.23049239C>T | CA408408047 | THBD | c.266G>A (p.Gly89Asp)
| gnomAD v4 |
20 | g.23049240C>A | CA408408048 | THBD | c.265G>T (p.Gly89Cys)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049240C= | CA2355681460 | THBD | c.265G= (p.Gly89=)
| |
20 | g.23049240C>G | CA408408050 | THBD | c.265G>C (p.Gly89Arg)
| gnomAD v4 |
20 | g.23049240C>T | CA408408049 | THBD | c.265G>A (p.Gly89Ser)
| |
20 | g.23049241G>A | CA510161084 | THBD | c.264C>T (p.Ile88=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049241G>C | CA408408051 | THBD | c.264C>G (p.Ile88Met)
| gnomAD v4 |
20 | g.23049241G= | CA2355681461 | THBD | c.264C= (p.Ile88=)
| |
20 | g.23049241G>T | CA510161085 | THBD | c.264C>A (p.Ile88=)
| |
20 | g.23049242A= | CA2355681462 | THBD | c.263T= (p.Ile88=)
| |
20 | g.23049242A>C | CA313552284 | THBD | c.263T>G (p.Ile88Ser)
| ClinVar dbSNP gnomAD v4 |
20 | g.23049242A>G | CA408408052 | THBD | c.263T>C (p.Ile88Thr)
| |
20 | g.23049242A>T | CA408408053 | THBD | c.263T>A (p.Ile88Asn)
| gnomAD v4 |
20 | g.23049242_23049278delinsATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT | CA2355681463 | THBD | c.227_263delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT (p.Asn76=)
| |
20 | g.23049243T>A | CA408408054 | THBD | c.262A>T (p.Ile88Phe)
| dbSNP gnomAD v2 |
20 | g.23049243T>C | CA408408055 | THBD | c.262A>G (p.Ile88Val)
| dbSNP |
20 | g.23049243T>G | CA408408056 | THBD | c.262A>C (p.Ile88Leu)
| |
20 | g.23049243T= | CA2355681464 | THBD | c.262A= (p.Ile88=)
| |
20 | g.23049245_23049280del | CA635265826 | THBD | c.227_262del (p.Asn76_Trp87del)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049244C>A | CA408408057 | THBD | c.261G>T (p.Trp87Cys)
| |
20 | g.23049244C>G | CA408408058 | THBD | c.261G>C (p.Trp87Cys)
| ClinVar |
20 | g.23049244C>T | CA408408059 | THBD | c.261G>A (p.Trp87Ter)
| |
20 | g.23049245C>A | CA408408062 | THBD | c.260G>T (p.Trp87Leu)
| |
20 | g.23049245C>G | CA408408061 | THBD | c.260G>C (p.Trp87Ser)
| |
20 | g.23049245C>T | CA408408060 | THBD | c.260G>A (p.Trp87Ter)
| |
20 | g.23049246A>C | CA408408063 | THBD | c.259T>G (p.Trp87Gly)
| |
20 | g.23049246A>G | CA408408064 | THBD | c.259T>C (p.Trp87Arg)
| |
20 | g.23049246A>T | CA408408065 | THBD | c.259T>A (p.Trp87Arg)
| |
20 | g.23049247G>A | CA510161094 | THBD | c.258C>T (p.Leu86=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049247G>C | CA510161095 | THBD | c.258C>G (p.Leu86=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049247G= | CA2355681465 | THBD | c.258C= (p.Leu86=)
| |
20 | g.23049247G>T | CA510161096 | THBD | c.258C>A (p.Leu86=)
| |
20 | g.23049248A= | CA2355681466 | THBD | c.257T= (p.Leu86=)
| |
20 | g.23049248A>C | CA408408066 | THBD | c.257T>G (p.Leu86Arg)
| |
20 | g.23049248A>G | CA313552293 | THBD | c.257T>C (p.Leu86Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049248A>T | CA408408067 | THBD | c.257T>A (p.Leu86His)
| |
20 | g.23049248_23049251delinsAGGC | CA2355681467 | THBD | c.254_257delinsGCCT (p.Arg85=)
| |
20 | g.23049249G>A | CA408408068 | THBD | c.256C>T (p.Leu86Phe)
| dbSNP |
20 | g.23049249G>C | CA408408069 | THBD | c.256C>G (p.Leu86Val)
| |
20 | g.23049249G= | CA2355681469 | THBD | c.256C= (p.Leu86=)
| |
20 | g.23049249G>T | CA408408070 | THBD | c.256C>A (p.Leu86Ile)
| |
20 | g.23049250_23049252del | CA2355681468 | THBD | c.254_256del (p.Arg85del)
| dbSNP |
20 | g.23049250G>A | CA9787762 | THBD | c.255C>T (p.Arg85=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049250G>C | CA510160960 | THBD | c.255C>G (p.Arg85=)
| |
20 | g.23049250G= | CA2355681470 | THBD | c.255C= (p.Arg85=)
| |
20 | g.23049250G>T | CA510160963 | THBD | c.255C>A (p.Arg85=)
| |
20 | g.23049251C>A | CA408408071 | THBD | c.254G>T (p.Arg85Leu)
| |
20 | g.23049251C= | CA2355681471 | THBD | c.254G= (p.Arg85=)
| |
20 | g.23049251C>G | CA408408072 | THBD | c.254G>C (p.Arg85Pro)
| |
20 | g.23049251C>T | CA408408073 | THBD | c.254G>A (p.Arg85His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049252G>A | CA408408076 | THBD | c.253C>T (p.Arg85Cys)
| gnomAD v4 |
20 | g.23049252G>C | CA408408074 | THBD | c.253C>G (p.Arg85Gly)
| |
20 | g.23049252G>T | CA408408075 | THBD | c.253C>A (p.Arg85Ser)
| gnomAD v4 |
20 | g.23049253C>A | CA510160979 | THBD | c.252G>T (p.Arg84=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049253C= | CA2355681472 | THBD | c.252G= (p.Arg84=)
| |
20 | g.23049253C>G | CA510160976 | THBD | c.252G>C (p.Arg84=)
| |
20 | g.23049253C>T | CA9787763 | THBD | c.252G>A (p.Arg84=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23049253_23049254insG | CA2815567351 | THBD | c.251_252insC (p.Arg85AlafsTer?)
| |
20 | g.23049254C>A | CA408408077 | THBD | c.251G>T (p.Arg84Leu)
| |
20 | g.23049254C= | CA2355681473 | THBD | c.251G= (p.Arg84=)
| |
20 | g.23049254C>G | CA408408078 | THBD | c.251G>C (p.Arg84Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049254C>T | CA408408079 | THBD | c.251G>A (p.Arg84Gln)
| dbSNP |
20 | g.23049254_23049262del | CA2652141671 | THBD | c.243_251del (p.Gly82_Arg84del)
| gnomAD v4 |
20 | g.23049255G>A | CA408408080 | THBD | c.250C>T (p.Arg84Trp)
| gnomAD v4 |
20 | g.23049255G>C | CA408408081 | THBD | c.250C>G (p.Arg84Gly)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049255G= | CA2355681474 | THBD | c.250C= (p.Arg84=)
| |
20 | g.23049255G>T | CA510160989 | THBD | c.250C>A (p.Arg84=)
| gnomAD v4 |
20 | g.23049256G>A | CA510160991 | THBD | c.249C>T (p.Arg83=)
| gnomAD v4 |
20 | g.23049256G>C | CA510160994 | THBD | c.249C>G (p.Arg83=)
| |
20 | g.23049256G= | CA2355681475 | THBD | c.249C= (p.Arg83=)
| |
20 | g.23049256G>T | CA510160998 | THBD | c.249C>A (p.Arg83=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049257C>A | CA408408082 | THBD | c.248G>T (p.Arg83Leu)
| |
20 | g.23049257C>G | CA408408083 | THBD | c.248G>C (p.Arg83Pro)
| dbSNP gnomAD v4 |
20 | g.23049257C>T | CA408408084 | THBD | c.248G>A (p.Arg83His)
| gnomAD v4 |
20 | g.23049259_23049271del | CA2577353603 | THBD | c.236_248del (p.Gly79AlafsTer?)
| |
20 | g.23049259_23049349del | CA2652141672 | THBD | c.158_248del (p.Asp53AlafsTer?)
| gnomAD v4 |
20 | g.23049258G>A | CA408408085 | THBD | c.247C>T (p.Arg83Cys)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049258G>C | CA9787764 | THBD | c.247C>G (p.Arg83Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049258G= | CA2355681476 | THBD | c.247C= (p.Arg83=)
| |
20 | g.23049258G>T | CA408408086 | THBD | c.247C>A (p.Arg83Ser)
| gnomAD v4 |
20 | g.23049259G>A | CA510161004 | THBD | c.246C>T (p.Gly82=)
| gnomAD v4 |
20 | g.23049259G>C | CA510161008 | THBD | c.246C>G (p.Gly82=)
| gnomAD v4 |
20 | g.23049259G= | CA2355681478 | THBD | c.246C= (p.Gly82=)
| |
20 | g.23049259G>T | CA510161006 | THBD | c.246C>A (p.Gly82=)
| dbSNP |
20 | g.23049259_23049260delinsGC | CA2355681477 | THBD | c.245_246delinsGC (p.Gly82=)
| |
20 | g.23049259_23049260insGC | CA2736665744 | THBD | c.245_246insGC (p.Arg83ProfsTer?)
| dbSNP |
20 | g.23049259_23049260insGCC | CA2736665734 | THBD | c.245_246insGGC (p.Gly82_Arg83insAla)
| dbSNP |
20 | g.23049259_23049260insGCCCCC | CA2815567352 | THBD | c.245_246insGGGGGC (p.Gly82_Arg83insGlyAla)
| |
20 | g.23049259_23049260insGCCCCCCCCC | CA2736665698 | THBD | c.245_246insGGGGGGGGGC (p.Arg83GlyfsTer?)
| dbSNP |
20 | g.23049260C>A | CA408408089 | THBD | c.245G>T (p.Gly82Val)
| |
20 | g.23049260C= | CA2355681479 | THBD | c.245G= (p.Gly82=)
| |
20 | g.23049260C>G | CA408408088 | THBD | c.245G>C (p.Gly82Ala)
| |
20 | g.23049260C>T | CA408408087 | THBD | c.245G>A (p.Gly82Asp)
| dbSNP gnomAD v4 |
20 | g.23049261del | CA915953097 | THBD | c.245del (p.Gly82AlafsTer?)
| ClinVar dbSNP gnomAD v4 |
20 | g.23049260_23049264del | CA2736665967 | THBD | c.241_245del (p.Val81ProfsTer?)
| dbSNP |
20 | g.23049261C>A | CA408408090 | THBD | c.244G>T (p.Gly82Cys)
| |
20 | g.23049261C= | CA2355681480 | THBD | c.244G= (p.Gly82=)
| |
20 | g.23049261C>G | CA408408092 | THBD | c.244G>C (p.Gly82Arg)
| ClinVar |
20 | g.23049261C>T | CA408408091 | THBD | c.244G>A (p.Gly82Ser)
| dbSNP |
20 | g.23049262A>C | CA510161016 | THBD | c.243T>G (p.Val81=)
| gnomAD v3 gnomAD v4 |
20 | g.23049262A>G | CA510161017 | THBD | c.243T>C (p.Val81=)
| |
20 | g.23049262A>T | CA510161018 | THBD | c.243T>A (p.Val81=)
| |
20 | g.23049262_23049263del | CA2736665973 | THBD | c.242_243del (p.Val81GlyfsTer?)
| dbSNP |
20 | g.23049263A>C | CA408408093 | THBD | c.242T>G (p.Val81Gly)
| gnomAD v4 |
20 | g.23049263A>G | CA408408095 | THBD | c.242T>C (p.Val81Ala)
| gnomAD v4 |
20 | g.23049263A>T | CA408408094 | THBD | c.242T>A (p.Val81Asp)
| gnomAD v4 |
20 | g.23049264C>A | CA408408096 | THBD | c.241G>T (p.Val81Phe)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049264C= | CA2355681481 | THBD | c.241G= (p.Val81=)
| |
20 | g.23049264C>G | CA408408097 | THBD | c.241G>C (p.Val81Leu)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049264C>T | CA9787765 | THBD | c.241G>A (p.Val81Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049265G>A | CA510161025 | THBD | c.240C>T (p.Gly80=)
| gnomAD v4 |
20 | g.23049265G>C | CA510161026 | THBD | c.240C>G (p.Gly80=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049265G= | CA2355681482 | THBD | c.240C= (p.Gly80=)
| |
20 | g.23049265G>T | CA510161027 | THBD | c.240C>A (p.Gly80=)
| gnomAD v4 |
20 | g.23049266C>A | CA408408098 | THBD | c.239G>T (p.Gly80Val)
| gnomAD v4 |
20 | g.23049266C= | CA2355681483 | THBD | c.239G= (p.Gly80=)
| |
20 | g.23049266C>G | CA408408100 | THBD | c.239G>C (p.Gly80Ala)
| |
20 | g.23049266C>T | CA408408099 | THBD | c.239G>A (p.Gly80Asp)
| dbSNP gnomAD v2 COSMIC |
20 | g.23049267C>A | CA408408101 | THBD | c.238G>T (p.Gly80Cys)
| gnomAD v4 |
20 | g.23049267C>G | CA408408103 | THBD | c.238G>C (p.Gly80Arg)
| |
20 | g.23049267C>T | CA408408102 | THBD | c.238G>A (p.Gly80Ser)
| |
20 | g.23049268G>A | CA510161031 | THBD | c.237C>T (p.Gly79=)
| gnomAD v4 |
20 | g.23049268G>C | CA313552318 | THBD | c.237C>G (p.Gly79=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049268G= | CA2355681484 | THBD | c.237C= (p.Gly79=)
| |
20 | g.23049268G>T | CA9787766 | THBD | c.237C>A (p.Gly79=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049269C>A | CA408408104 | THBD | c.236G>T (p.Gly79Val)
| |
20 | g.23049269C= | CA2355681485 | THBD | c.236G= (p.Gly79=)
| |
20 | g.23049269C>G | CA9787767 | THBD | c.236G>C (p.Gly79Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049269C>T | CA408408105 | THBD | c.236G>A (p.Gly79Asp)
| |
20 | g.23049270C>A | CA408408106 | THBD | c.235G>T (p.Gly79Cys)
| gnomAD v4 |
20 | g.23049270C= | CA2355681486 | THBD | c.235G= (p.Gly79=)
| |
20 | g.23049270C>G | CA408408107 | THBD | c.235G>C (p.Gly79Arg)
| |
20 | g.23049270C>T | CA313552336 | THBD | c.235G>A (p.Gly79Ser)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049271G>A | CA510161036 | THBD | c.234C>T (p.Asp78=)
| ClinVar gnomAD v4 COSMIC |
20 | g.23049271G>C | CA9787768 | THBD | c.234C>G (p.Asp78Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049271G= | CA2355681487 | THBD | c.234C= (p.Asp78=)
| |
20 | g.23049271G>T | CA408408108 | THBD | c.234C>A (p.Asp78Glu)
| |
20 | g.23049272T>A | CA408408111 | THBD | c.233A>T (p.Asp78Val)
| |
20 | g.23049272T>C | CA408408110 | THBD | c.233A>G (p.Asp78Gly)
| gnomAD v4 |
20 | g.23049272T>G | CA408408109 | THBD | c.233A>C (p.Asp78Ala)
| dbSNP gnomAD v4 |
20 | g.23049272T= | CA2355681488 | THBD | c.233A= (p.Asp78=)
| |
20 | g.23049273C>A | CA408408112 | THBD | c.232G>T (p.Asp78Tyr)
| gnomAD v4 |
20 | g.23049273C>G | CA408408113 | THBD | c.232G>C (p.Asp78His)
| |
20 | g.23049273C>T | CA408408114 | THBD | c.232G>A (p.Asp78Asn)
| COSMIC |
20 | g.23049274G>A | CA510161041 | THBD | c.231C>T (p.Gly77=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049274G>C | CA510161042 | THBD | c.231C>G (p.Gly77=)
| |
20 | g.23049274G= | CA2355681489 | THBD | c.231C= (p.Gly77=)
| |
20 | g.23049274G>T | CA510161044 | THBD | c.231C>A (p.Gly77=)
| |
20 | g.23049275C>A | CA408408115 | THBD | c.230G>T (p.Gly77Val)
| ClinVar gnomAD v4 |
20 | g.23049275C= | CA2355681490 | THBD | c.230G= (p.Gly77=)
| |
20 | g.23049275C>G | CA408408116 | THBD | c.230G>C (p.Gly77Ala)
| |
20 | g.23049275C>T | CA9787769 | THBD | c.230G>A (p.Gly77Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049276C>A | CA408408117 | THBD | c.229G>T (p.Gly77Cys)
| |
20 | g.23049276C= | CA2355681491 | THBD | c.229G= (p.Gly77=)
| |
20 | g.23049276C>G | CA9787770 | THBD | c.229G>C (p.Gly77Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049276C>T | CA408408118 | THBD | c.229G>A (p.Gly77Ser)
| gnomAD v4 |
20 | g.23049277G>A | CA510161048 | THBD | c.228C>T (p.Asn76=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23049277G>C | CA408408119 | THBD | c.228C>G (p.Asn76Lys)
| dbSNP gnomAD v4 |
20 | g.23049277G= | CA2355681492 | THBD | c.228C= (p.Asn76=)
| |
20 | g.23049277G>T | CA408408120 | THBD | c.228C>A (p.Asn76Lys)
| gnomAD v4 COSMIC |
20 | g.23049278T>A | CA408408122 | THBD | c.227A>T (p.Asn76Ile)
| |
20 | g.23049278T>C | CA408408123 | THBD | c.227A>G (p.Asn76Ser)
| |
20 | g.23049278T>G | CA408408121 | THBD | c.227A>C (p.Asn76Thr)
| dbSNP gnomAD v4 |
20 | g.23049278T= | CA2355681493 | THBD | c.227A= (p.Asn76=)
| |
20 | g.23049279T>A | CA408408124 | THBD | c.226A>T (p.Asn76Tyr)
| |
20 | g.23049279T>C | CA408408125 | THBD | c.226A>G (p.Asn76Asp)
| |
20 | g.23049279T>G | CA408408126 | THBD | c.226A>C (p.Asn76His)
| |
20 | g.23049280C>A | CA510161054 | THBD | c.225G>T (p.Leu75=)
| |
20 | g.23049280C= | CA2355681494 | THBD | c.225G= (p.Leu75=)
| |
20 | g.23049280C>G | CA510161056 | THBD | c.225G>C (p.Leu75=)
| gnomAD v4 |
20 | g.23049280C>T | CA510161055 | THBD | c.225G>A (p.Leu75=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049281A= | CA2355681495 | THBD | c.224T= (p.Leu75=)
| |
20 | g.23049281A>C | CA408408127 | THBD | c.224T>G (p.Leu75Arg)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049281A>G | CA408408128 | THBD | c.224T>C (p.Leu75Pro)
| |
20 | g.23049281A>T | CA408408129 | THBD | c.224T>A (p.Leu75Gln)
| |
20 | g.23049281_23049282insTCAAGGCCGTGCAGGTGCCGGCCGGCTTCGACGTGGCCGACGCGCGCATCGTCGAGATG | CA2815567353 | THBD | c.223_224insCATCTCGACGATGCGCGCGTCGGCCACGTCGAAGCCGGCCGGCACCTGCACGGCCTTGA (p.Leu75ProfsTer20)
| |
20 | g.23049282G>A | CA510161061 | THBD | c.223C>T (p.Leu75=)
| COSMIC |
20 | g.23049282G>C | CA408408130 | THBD | c.223C>G (p.Leu75Val)
| gnomAD v4 |
20 | g.23049282G>T | CA408408131 | THBD | c.223C>A (p.Leu75Met)
| |
20 | g.23049283del | CA2577353604 | THBD | c.222del (p.Leu75Ter)
| |
20 | g.23049283T>A | CA510161065 | THBD | c.222A>T (p.Leu74=)
| |
20 | g.23049283T>C | CA510161067 | THBD | c.222A>G (p.Leu74=)
| |
20 | g.23049283T>G | CA510161068 | THBD | c.222A>C (p.Leu74=)
| |
20 | g.23049284A>C | CA408408132 | THBD | c.221T>G (p.Leu74Arg)
| |
20 | g.23049284A>G | CA408408133 | THBD | c.221T>C (p.Leu74Pro)
| gnomAD v4 |
20 | g.23049284A>T | CA408408134 | THBD | c.221T>A (p.Leu74Gln)
| |
20 | g.23049285G>A | CA510161071 | THBD | c.220C>T (p.Leu74=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.23049285G>C | CA408408135 | THBD | c.220C>G (p.Leu74Val)
| gnomAD v4 |
20 | g.23049285G= | CA2355681496 | THBD | c.220C= (p.Leu74=)
| |
20 | g.23049285G>T | CA408408136 | THBD | c.220C>A (p.Leu74Ile)
| gnomAD v4 |
20 | g.23049286C>A | CA408408137 | THBD | c.219G>T (p.Leu73Phe)
| gnomAD v4 |
20 | g.23049286C>G | CA408408138 | THBD | c.219G>C (p.Leu73Phe)
| |
20 | g.23049286C>T | CA510161077 | THBD | c.219G>A (p.Leu73=)
| gnomAD v4 |
20 | g.23049287A= | CA2355681497 | THBD | c.218T= (p.Leu73=)
| |
20 | g.23049287A>C | CA408408139 | THBD | c.218T>G (p.Leu73Trp)
| |
20 | g.23049287A>G | CA313552355 | THBD | c.218T>C (p.Leu73Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.23049287A>T | CA408408140 | THBD | c.218T>A (p.Leu73Ter)
| |
20 | g.23049288A>C | CA408408141 | THBD | c.217T>G (p.Leu73Val)
| |
20 | g.23049288A>G | CA510161082 | THBD | c.217T>C (p.Leu73=)
| gnomAD v4 |
20 | g.23049288A>T | CA408408142 | THBD | c.217T>A (p.Leu73Met)
| |
20 | g.23049288_23049289delinsAG | CA2355681498 | THBD | c.216_217delinsCT (p.Ser72=)
| |
20 | g.23049289G>A | CA510161088 | THBD | c.216C>T (p.Ser72=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23049289G>C | CA510161087 | THBD | c.216C>G (p.Ser72=)
| |
20 | g.23049289G= | CA2355681500 | THBD | c.216C= (p.Ser72=)
| |
20 | g.23049289G>T | CA510161086 | THBD | c.216C>A (p.Ser72=)
| gnomAD v4 |
20 | g.23049290del | CA2355681499 | THBD | c.216del (p.Leu73CysfsTer3)
| dbSNP |
20 | g.23049290G>A | CA408408143 | THBD | c.215C>T (p.Ser72Phe)
| dbSNP gnomAD v4 |
20 | g.23049290G>C | CA408408144 | THBD | c.215C>G (p.Ser72Cys)
| |
20 | g.23049290G= | CA2355681501 | THBD | c.215C= (p.Ser72=)
| |
20 | g.23049290G>T | CA408408145 | THBD | c.215C>A (p.Ser72Tyr)
| gnomAD v4 |