| 20 | g.23047845_23047894delinsACTTGTACTCCATCTTGGCCCTGGCGGCGCCCTGCTTCTTGCGCAGGTGG | CA2355680766 | THBD | c.1611_1660delinsCCACCTGCGCAAGAAGCAGGGCGCCGCCAGGGCCAAGATGGAGTACAAGT (p.Cys537=)
| |
| 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=)
| |
| 20 | g.23047919A>C | CA408405226 | THBD | c.1586T>G (p.Val529Gly)
| |
| 20 | g.23047919A>G | CA408405227 | THBD | c.1586T>C (p.Val529Ala)
| |
| 20 | g.23047919A>T | CA408405228 | THBD | c.1586T>A (p.Val529Glu)
| |
| 20 | g.23047920C>A | CA408405229 | THBD | c.1585G>T (p.Val529Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047920C= | CA2355680799 | THBD | c.1585G= (p.Val529=)
| |
| 20 | g.23047920C>G | CA408405230 | THBD | c.1585G>C (p.Val529Leu)
| |
| 20 | g.23047920C>T | CA408405231 | THBD | c.1585G>A (p.Val529Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047921C>A | CA510160809 | THBD | c.1584G>T (p.Leu528=)
| gnomAD v4 |
| 20 | g.23047921C>G | CA510160814 | THBD | c.1584G>C (p.Leu528=)
| |
| 20 | g.23047921C>T | CA510160816 | THBD | c.1584G>A (p.Leu528=)
| ClinVar |
| 20 | g.23047922A= | CA2355680800 | THBD | c.1583T= (p.Leu528=)
| |
| 20 | g.23047922A>C | CA408405232 | THBD | c.1583T>G (p.Leu528Arg)
| |
| 20 | g.23047922A>G | CA408405234 | THBD | c.1583T>C (p.Leu528Pro)
| dbSNP |
| 20 | g.23047922A>T | CA408405233 | THBD | c.1583T>A (p.Leu528Gln)
| |
| 20 | g.23047923G>A | CA510160824 | THBD | c.1582C>T (p.Leu528=)
| ClinVar gnomAD v4 |
| 20 | g.23047923G>C | CA408405235 | THBD | c.1582C>G (p.Leu528Val)
| |
| 20 | g.23047923G>T | CA408405236 | THBD | c.1582C>A (p.Leu528Met)
| |
| 20 | g.23047924G>A | CA510160825 | THBD | c.1581C>T (p.Cys527=)
| |
| 20 | g.23047924G>C | CA408405237 | THBD | c.1581C>G (p.Cys527Trp)
| |
| 20 | g.23047924G>T | CA408405238 | THBD | c.1581C>A (p.Cys527Ter)
| gnomAD v4 |
| 20 | g.23047925C>A | CA313550385 | THBD | c.1580G>T (p.Cys527Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047925C= | CA2355680801 | THBD | c.1580G= (p.Cys527=)
| |
| 20 | g.23047925C>G | CA408405239 | THBD | c.1580G>C (p.Cys527Ser)
| |
| 20 | g.23047925C>T | CA408405240 | THBD | c.1580G>A (p.Cys527Tyr)
| gnomAD v4 |
| 20 | g.23047926A>C | CA408405241 | THBD | c.1579T>G (p.Cys527Gly)
| |
| 20 | g.23047926A>G | CA408405242 | THBD | c.1579T>C (p.Cys527Arg)
| |
| 20 | g.23047926A>T | CA408405243 | THBD | c.1579T>A (p.Cys527Ser)
| |
| 20 | g.23047927C>A | CA510160833 | THBD | c.1578G>T (p.Leu526=)
| |
| 20 | g.23047927C= | CA2355680802 | THBD | c.1578G= (p.Leu526=)
| |
| 20 | g.23047927C>G | CA510160834 | THBD | c.1578G>C (p.Leu526=)
| |
| 20 | g.23047927C>T | CA510160835 | THBD | c.1578G>A (p.Leu526=)
| dbSNP gnomAD v4 |
| 20 | g.23047928A= | CA2355680803 | THBD | c.1577T= (p.Leu526=)
| |
| 20 | g.23047928A>C | CA408405244 | THBD | c.1577T>G (p.Leu526Arg)
| |
| 20 | g.23047928A>G | CA408405245 | THBD | c.1577T>C (p.Leu526Pro)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23047928A>T | CA408405246 | THBD | c.1577T>A (p.Leu526Gln)
| gnomAD v4 |
| 20 | g.23047929G>A | CA510160839 | THBD | c.1576C>T (p.Leu526=)
| |
| 20 | g.23047929G>C | CA408405247 | THBD | c.1576C>G (p.Leu526Val)
| |
| 20 | g.23047929G>T | CA408405248 | THBD | c.1576C>A (p.Leu526Met)
| gnomAD v4 |
| 20 | g.23047930G>A | CA510160844 | THBD | c.1575C>T (p.Ser525=)
| |
| 20 | g.23047930G>C | CA408405249 | THBD | c.1575C>G (p.Ser525Arg)
| |
| 20 | g.23047930G>T | CA408405250 | THBD | c.1575C>A (p.Ser525Arg)
| |
| 20 | g.23047931C>A | CA408405251 | THBD | c.1574G>T (p.Ser525Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047931C= | CA2355680804 | THBD | c.1574G= (p.Ser525=)
| |
| 20 | g.23047931C>G | CA408405252 | THBD | c.1574G>C (p.Ser525Thr)
| |
| 20 | g.23047931C>T | CA408405253 | THBD | c.1574G>A (p.Ser525Asn)
| gnomAD v4 |
| 20 | g.23047932T>A | CA408405254 | THBD | c.1573A>T (p.Ser525Cys)
| |
| 20 | g.23047932T>C | CA408405255 | THBD | c.1573A>G (p.Ser525Gly)
| |
| 20 | g.23047932T>G | CA408405256 | THBD | c.1573A>C (p.Ser525Arg)
| |
| 20 | g.23047933C>A | CA510160852 | THBD | c.1572G>T (p.Ala524=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047933C= | CA2355680805 | THBD | c.1572G= (p.Ala524=)
| |
| 20 | g.23047933C>G | CA510160853 | THBD | c.1572G>C (p.Ala524=)
| |
| 20 | g.23047933C>T | CA510160859 | THBD | c.1572G>A (p.Ala524=)
| |
| 20 | g.23047934G>A | CA408405257 | THBD | c.1571C>T (p.Ala524Val)
| |
| 20 | g.23047934G>C | CA408405258 | THBD | c.1571C>G (p.Ala524Gly)
| gnomAD v4 |
| 20 | g.23047934G>T | CA408405259 | THBD | c.1571C>A (p.Ala524Glu)
| gnomAD v4 |
| 20 | g.23047935C>A | CA408405261 | THBD | c.1570G>T (p.Ala524Ser)
| gnomAD v4 |
| 20 | g.23047935C= | CA2355680806 | THBD | c.1570G= (p.Ala524=)
| |
| 20 | g.23047935C>G | CA408405262 | THBD | c.1570G>C (p.Ala524Pro)
| |
| 20 | g.23047935C>T | CA408405260 | THBD | c.1570G>A (p.Ala524Thr)
| dbSNP gnomAD v2 |
| 20 | g.23047936G>A | CA510160864 | THBD | c.1569C>T (p.Ile523=)
| gnomAD v4 |
| 20 | g.23047936G>C | CA408405263 | THBD | c.1569C>G (p.Ile523Met)
| |
| 20 | g.23047936G>T | CA510160865 | THBD | c.1569C>A (p.Ile523=)
| |
| 20 | g.23047937A= | CA2355680807 | THBD | c.1568T= (p.Ile523=)
| |
| 20 | g.23047937A>C | CA408405264 | THBD | c.1568T>G (p.Ile523Ser)
| |
| 20 | g.23047937A>G | CA408405265 | THBD | c.1568T>C (p.Ile523Thr)
| dbSNP gnomAD v4 |
| 20 | g.23047937A>T | CA408405266 | THBD | c.1568T>A (p.Ile523Asn)
| |
| 20 | g.23047938T>A | CA408405267 | THBD | c.1567A>T (p.Ile523Phe)
| |
| 20 | g.23047938T>C | CA408405268 | THBD | c.1567A>G (p.Ile523Val)
| gnomAD v4 |
| 20 | g.23047938T>G | CA408405269 | THBD | c.1567A>C (p.Ile523Leu)
| |
| 20 | g.23047939G>A | CA510160872 | THBD | c.1566C>T (p.Ser522=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047939G>C | CA510160873 | THBD | c.1566C>G (p.Ser522=)
| |
| 20 | g.23047939G= | CA2355680808 | THBD | c.1566C= (p.Ser522=)
| |
| 20 | g.23047939G>T | CA510160874 | THBD | c.1566C>A (p.Ser522=)
| |
| 20 | g.23047940G>A | CA408405270 | THBD | c.1565C>T (p.Ser522Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.23047940G>C | CA408405272 | THBD | c.1565C>G (p.Ser522Cys)
| |
| 20 | g.23047940G= | CA2355680809 | THBD | c.1565C= (p.Ser522=)
| |
| 20 | g.23047940G>T | CA408405271 | THBD | c.1565C>A (p.Ser522Tyr)
| gnomAD v4 |
| 20 | g.23047941A>C | CA408405273 | THBD | c.1564T>G (p.Ser522Ala)
| |
| 20 | g.23047941A>G | CA408405274 | THBD | c.1564T>C (p.Ser522Pro)
| |
| 20 | g.23047941A>T | CA408405275 | THBD | c.1564T>A (p.Ser522Thr)
| |
| 20 | g.23047942G>A | CA510160884 | THBD | c.1563C>T (p.Ile521=)
| gnomAD v4 |
| 20 | g.23047942G>C | CA408405276 | THBD | c.1563C>G (p.Ile521Met)
| |
| 20 | g.23047942G>T | CA510160886 | THBD | c.1563C>A (p.Ile521=)
| |
| 20 | g.23047943A>C | CA408405279 | THBD | c.1562T>G (p.Ile521Ser)
| |
| 20 | g.23047943A>G | CA408405277 | THBD | c.1562T>C (p.Ile521Thr)
| |
| 20 | g.23047943A>T | CA408405278 | THBD | c.1562T>A (p.Ile521Asn)
| |
| 20 | g.23047944T>A | CA408405280 | THBD | c.1561A>T (p.Ile521Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047944T>C | CA408405281 | THBD | c.1561A>G (p.Ile521Val)
| |
| 20 | g.23047944T>G | CA408405282 | THBD | c.1561A>C (p.Ile521Leu)
| |
| 20 | g.23047944T= | CA2355680810 | THBD | c.1561A= (p.Ile521=)
| |
| 20 | g.23047945G>A | CA510160892 | THBD | c.1560C>T (p.Gly520=)
| |
| 20 | g.23047945G>C | CA510160893 | THBD | c.1560C>G (p.Gly520=)
| dbSNP gnomAD v2 |
| 20 | g.23047945G= | CA2355680811 | THBD | c.1560C= (p.Gly520=)
| |
| 20 | g.23047945G>T | CA510160894 | THBD | c.1560C>A (p.Gly520=)
| dbSNP gnomAD v4 |
| 20 | g.23047946C>A | CA408405283 | THBD | c.1559G>T (p.Gly520Val)
| |
| 20 | g.23047946C>G | CA408405284 | THBD | c.1559G>C (p.Gly520Ala)
| |
| 20 | g.23047946C>T | CA408405285 | THBD | c.1559G>A (p.Gly520Asp)
| |
| 20 | g.23047947C>A | CA408405286 | THBD | c.1558G>T (p.Gly520Cys)
| gnomAD v4 |
| 20 | g.23047947C= | CA2355680812 | THBD | c.1558G= (p.Gly520=)
| |
| 20 | g.23047947C>G | CA408405287 | THBD | c.1558G>C (p.Gly520Arg)
| |
| 20 | g.23047947C>T | CA408405288 | THBD | c.1558G>A (p.Gly520Ser)
| dbSNP gnomAD v2 gnomAD v4 |
