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.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 |
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.23047887dup | CA2838571077 | THBD | c.1618dup (p.Arg540ProfsTer?)
| |
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 |