| 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)
| |
| 20 | g.23047897G>A | CA9787525 | THBD | c.1608C>T (p.Leu536=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047897G>C | CA510160732 | THBD | c.1608C>G (p.Leu536=)
| |
| 20 | g.23047897G= | CA2355680790 | THBD | c.1608C= (p.Leu536=)
| |
| 20 | g.23047897G>T | CA510160730 | THBD | c.1608C>A (p.Leu536=)
| |
| 20 | g.23047898A>C | CA408405190 | THBD | c.1607T>G (p.Leu536Arg)
| gnomAD v4 |
| 20 | g.23047898A>G | CA408405189 | THBD | c.1607T>C (p.Leu536Pro)
| |
| 20 | g.23047898A>T | CA408405188 | THBD | c.1607T>A (p.Leu536His)
| |
| 20 | g.23047899G>A | CA408405191 | THBD | c.1606C>T (p.Leu536Phe)
| ClinVar dbSNP COSMIC |
| 20 | g.23047899G>C | CA408405192 | THBD | c.1606C>G (p.Leu536Val)
| |
| 20 | g.23047899G= | CA2355680791 | THBD | c.1606C= (p.Leu536=)
| |
| 20 | g.23047899G>T | CA408405193 | THBD | c.1606C>A (p.Leu536Ile)
| |
| 20 | g.23047900G>A | CA510160735 | THBD | c.1605C>T (p.Leu535=)
| ClinVar gnomAD v4 |
| 20 | g.23047900G>C | CA510160737 | THBD | c.1605C>G (p.Leu535=)
| gnomAD v4 |
| 20 | g.23047900G>T | CA510160741 | THBD | c.1605C>A (p.Leu535=)
| gnomAD v4 |
| 20 | g.23047901A>C | CA408405194 | THBD | c.1604T>G (p.Leu535Arg)
| |
| 20 | g.23047901A>G | CA408405195 | THBD | c.1604T>C (p.Leu535Pro)
| dbSNP |
| 20 | g.23047901A>T | CA408405196 | THBD | c.1604T>A (p.Leu535His)
| |
| 20 | g.23047902G>A | CA408405197 | THBD | c.1603C>T (p.Leu535Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047902G>C | CA408405198 | THBD | c.1603C>G (p.Leu535Val)
| |
| 20 | g.23047902G= | CA2355680792 | THBD | c.1603C= (p.Leu535=)
| |
| 20 | g.23047902G>T | CA408405199 | THBD | c.1603C>A (p.Leu535Ile)
| |
| 20 | g.23047903C>A | CA510160750 | THBD | c.1602G>T (p.Ala534=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047903C= | CA2355680793 | THBD | c.1602G= (p.Ala534=)
| |
| 20 | g.23047903C>G | CA9787526 | THBD | c.1602G>C (p.Ala534=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047903C>T | CA510160751 | THBD | c.1602G>A (p.Ala534=)
| gnomAD v4 |
| 20 | g.23047904G>A | CA313550345 | THBD | c.1601C>T (p.Ala534Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047904G>C | CA408405200 | THBD | c.1601C>G (p.Ala534Gly)
| |
| 20 | g.23047904G= | CA2355680794 | THBD | c.1601C= (p.Ala534=)
| |
| 20 | g.23047904G>T | CA313550349 | THBD | c.1601C>A (p.Ala534Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047905C>A | CA408405202 | THBD | c.1600G>T (p.Ala534Ser)
| |
| 20 | g.23047905C>G | CA408405203 | THBD | c.1600G>C (p.Ala534Pro)
| |
| 20 | g.23047905C>T | CA408405201 | THBD | c.1600G>A (p.Ala534Thr)
| |
| 20 | g.23047906C>A | CA408405204 | THBD | c.1599G>T (p.Leu533Phe)
| |
| 20 | g.23047906C= | CA2355680795 | THBD | c.1599G= (p.Leu533=)
| |
| 20 | g.23047906C>G | CA408405205 | THBD | c.1599G>C (p.Leu533Phe)
| |
| 20 | g.23047906C>T | CA510160760 | THBD | c.1599G>A (p.Leu533=)
| dbSNP gnomAD v2 |
| 20 | g.23047907A>C | CA408405206 | THBD | c.1598T>G (p.Leu533Trp)
| |
| 20 | g.23047907A>G | CA408405207 | THBD | c.1598T>C (p.Leu533Ser)
| |
| 20 | g.23047907A>T | CA408405208 | THBD | c.1598T>A (p.Leu533Ter)
| |
| 20 | g.23047908A>C | CA408405209 | THBD | c.1597T>G (p.Leu533Val)
| |
| 20 | g.23047908A>G | CA510160768 | THBD | c.1597T>C (p.Leu533=)
| |
| 20 | g.23047908A>T | CA408405210 | THBD | c.1597T>A (p.Leu533Met)
| |
| 20 | g.23047909A>C | CA510160769 | THBD | c.1596T>G (p.Leu532=)
| |
| 20 | g.23047909A>G | CA510160770 | THBD | c.1596T>C (p.Leu532=)
| |
| 20 | g.23047909A>T | CA510160771 | THBD | c.1596T>A (p.Leu532=)
| |
| 20 | g.23047910A>C | CA408405213 | THBD | c.1595T>G (p.Leu532Arg)
| |
| 20 | g.23047910A>G | CA408405212 | THBD | c.1595T>C (p.Leu532Pro)
| |
| 20 | g.23047910A>T | CA408405211 | THBD | c.1595T>A (p.Leu532His)
| |
| 20 | g.23047911G>A | CA313550358 | THBD | c.1594C>T (p.Leu532Phe)
| ClinVar dbSNP |
| 20 | g.23047911G>C | CA313550376 | THBD | c.1594C>G (p.Leu532Val)
| dbSNP |
| 20 | g.23047911G= | CA2355680796 | THBD | c.1594C= (p.Leu532=)
| |
| 20 | g.23047911G>T | CA408405214 | THBD | c.1594C>A (p.Leu532Ile)
| |
| 20 | g.23047912C>A | CA510160778 | THBD | c.1593G>T (p.Ala531=)
| gnomAD v4 |
| 20 | g.23047912C= | CA2355680797 | THBD | c.1593G= (p.Ala531=)
| |
| 20 | g.23047912C>G | CA510160779 | THBD | c.1593G>C (p.Ala531=)
| |
| 20 | g.23047912C>T | CA510160780 | THBD | c.1593G>A (p.Ala531=)
| dbSNP gnomAD v4 |
| 20 | g.23047913G>A | CA9787527 | THBD | c.1592C>T (p.Ala531Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047913G>C | CA408405215 | THBD | c.1592C>G (p.Ala531Gly)
| dbSNP |
| 20 | g.23047913G= | CA2355680798 | THBD | c.1592C= (p.Ala531=)
| |
| 20 | g.23047913G>T | CA408405216 | THBD | c.1592C>A (p.Ala531Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047914C>A | CA408405219 | THBD | c.1591G>T (p.Ala531Ser)
| |
| 20 | g.23047914C>G | CA408405217 | THBD | c.1591G>C (p.Ala531Pro)
| |
| 20 | g.23047914C>T | CA408405218 | THBD | c.1591G>A (p.Ala531Thr)
| gnomAD v4 |
| 20 | g.23047915C>A | CA510160791 | THBD | c.1590G>T (p.Val530=)
| gnomAD v4 |
| 20 | g.23047915C>G | CA510160792 | THBD | c.1590G>C (p.Val530=)
| |
| 20 | g.23047915C>T | CA510160793 | THBD | c.1590G>A (p.Val530=)
| gnomAD v4 |
| 20 | g.23047916A>C | CA408405220 | THBD | c.1589T>G (p.Val530Gly)
| |
| 20 | g.23047916A>G | CA408405221 | THBD | c.1589T>C (p.Val530Ala)
| gnomAD v4 |
| 20 | g.23047916A>T | CA408405222 | THBD | c.1589T>A (p.Val530Glu)
| |
| 20 | g.23047917C>A | CA408405223 | THBD | c.1588G>T (p.Val530Leu)
| |
| 20 | g.23047917C>G | CA408405224 | THBD | c.1588G>C (p.Val530Leu)
| |
| 20 | g.23047917C>T | CA408405225 | THBD | c.1588G>A (p.Val530Met)
| ClinVar gnomAD v4 |
| 20 | g.23047918C>A | CA510160801 | THBD | c.1587G>T (p.Val529=)
| |
| 20 | g.23047918C>G | CA510160803 | THBD | c.1587G>C (p.Val529=)
| ClinVar dbSNP |
| 20 | g.23047918C>T | CA510160802 | THBD | c.1587G>A (p.Val529=)
| |
