Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.229787511dupCA2663472550TRIP12c.4818dup (p.Arg1607ThrfsTer?)
c.4827dup (p.Arg1610ThrfsTer?)
c.4995dup (p.Arg1666ThrfsTer?)
c.4854dup (p.Arg1619ThrfsTer?)
c.*3159dup (n.*3159dup)
c.4869dup (p.Arg1624ThrfsTer?)
c.4983dup (p.Arg1662ThrfsTer?)
c.649dup
c.*2479dup (n.*2479dup)
c.4718dup
c.4773dup (p.Arg1592ThrfsTer?)
c.4998dup (p.Arg1667ThrfsTer?)
c.4770dup (p.Arg1591ThrfsTer?)
c.4914dup (p.Arg1639ThrfsTer?)
c.3960dup (p.Arg1321ThrfsTer?)
c.4917dup (p.Arg1640ThrfsTer?)
c.4911dup (p.Arg1638ThrfsTer?)
c.4872dup (p.Arg1625ThrfsTer?)
c.4788dup (p.Arg1597ThrfsTer?)
c.4980dup (p.Arg1661ThrfsTer?)
c.4893dup (p.Arg1632ThrfsTer?)
c.4899dup (p.Arg1634ThrfsTer?)
c.4830dup (p.Arg1611ThrfsTer?)
c.5070dup (p.Arg1691ThrfsTer?)
c.5067dup (p.Arg1690ThrfsTer?)
c.4989dup (p.Arg1664ThrfsTer?)
c.4986dup (p.Arg1663ThrfsTer?)
c.4944dup (p.Arg1649ThrfsTer?)
c.4941dup (p.Arg1648ThrfsTer?)
c.4857dup (p.Arg1620ThrfsTer?)
 gnomAD v4
2g.229787511delCA2499215763TRIP12c.4818del (p.Lys1606AsnfsTer4)
c.4827del (p.Lys1609AsnfsTer4)
c.4995del (p.Lys1665AsnfsTer4)
c.4854del (p.Lys1618AsnfsTer4)
c.*3159del (n.*3159del)
c.4869del (p.Lys1623AsnfsTer4)
c.4983del (p.Lys1661AsnfsTer4)
c.649del
c.*2479del (n.*2479del)
c.4718del
c.4773del (p.Lys1591AsnfsTer4)
c.4998del (p.Lys1666AsnfsTer4)
c.4770del (p.Lys1590AsnfsTer4)
c.4914del (p.Lys1638AsnfsTer4)
c.3960del (p.Lys1320AsnfsTer4)
c.4917del (p.Lys1639AsnfsTer4)
c.4911del (p.Lys1637AsnfsTer4)
c.4872del (p.Lys1624AsnfsTer4)
c.4788del (p.Lys1596AsnfsTer4)
c.4980del (p.Lys1660AsnfsTer4)
c.4893del (p.Lys1631AsnfsTer4)
c.4899del (p.Lys1633AsnfsTer4)
c.4830del (p.Lys1610AsnfsTer4)
c.5070del (p.Lys1690AsnfsTer4)
c.5067del (p.Lys1689AsnfsTer4)
c.4989del (p.Lys1663AsnfsTer4)
c.4986del (p.Lys1662AsnfsTer4)
c.4944del (p.Lys1648AsnfsTer4)
c.4941del (p.Lys1647AsnfsTer4)
c.4857del (p.Lys1619AsnfsTer4)
 ClinVar dbSNP gnomAD v4
2g.229787506T>ACA350892042TRIP12c.4817A>T (p.Lys1606Ile)
c.4826A>T (p.Lys1609Ile)
c.4994A>T (p.Lys1665Ile)
c.4853A>T (p.Lys1618Ile)
c.*3158A>T (n.*3158A>T)
c.4868A>T (p.Lys1623Ile)
c.4982A>T (p.Lys1661Ile)
c.648A>T
c.*2478A>T (n.*2478A>T)
c.4717A>T
c.4772A>T (p.Lys1591Ile)
c.4997A>T (p.Lys1666Ile)
c.4769A>T (p.Lys1590Ile)
c.4913A>T (p.Lys1638Ile)
c.3959A>T (p.Lys1320Ile)
c.4916A>T (p.Lys1639Ile)
c.4910A>T (p.Lys1637Ile)
c.4871A>T (p.Lys1624Ile)
c.4787A>T (p.Lys1596Ile)
c.4979A>T (p.Lys1660Ile)
c.4892A>T (p.Lys1631Ile)
c.4898A>T (p.Lys1633Ile)
c.4829A>T (p.Lys1610Ile)
c.5069A>T (p.Lys1690Ile)
c.5066A>T (p.Lys1689Ile)
c.4988A>T (p.Lys1663Ile)
c.4985A>T (p.Lys1662Ile)
c.4943A>T (p.Lys1648Ile)
c.4940A>T (p.Lys1647Ile)
c.4856A>T (p.Lys1619Ile)
2g.229787506T>CCA350892048TRIP12c.4817A>G (p.Lys1606Arg)
c.4826A>G (p.Lys1609Arg)
c.4994A>G (p.Lys1665Arg)
c.4853A>G (p.Lys1618Arg)
c.*3158A>G (n.*3158A>G)
c.4868A>G (p.Lys1623Arg)
c.4982A>G (p.Lys1661Arg)
c.648A>G
c.*2478A>G (n.*2478A>G)
c.4717A>G
c.4772A>G (p.Lys1591Arg)
c.4997A>G (p.Lys1666Arg)
c.4769A>G (p.Lys1590Arg)
c.4913A>G (p.Lys1638Arg)
c.3959A>G (p.Lys1320Arg)
c.4916A>G (p.Lys1639Arg)
c.4910A>G (p.Lys1637Arg)
c.4871A>G (p.Lys1624Arg)
c.4787A>G (p.Lys1596Arg)
c.4979A>G (p.Lys1660Arg)
c.4892A>G (p.Lys1631Arg)
c.4898A>G (p.Lys1633Arg)
c.4829A>G (p.Lys1610Arg)
c.5069A>G (p.Lys1690Arg)
c.5066A>G (p.Lys1689Arg)
c.4988A>G (p.Lys1663Arg)
c.4985A>G (p.Lys1662Arg)
c.4943A>G (p.Lys1648Arg)
c.4940A>G (p.Lys1647Arg)
c.4856A>G (p.Lys1619Arg)
2g.229787506T>GCA350892055TRIP12c.4817A>C (p.Lys1606Thr)
c.4826A>C (p.Lys1609Thr)
c.4994A>C (p.Lys1665Thr)
c.4853A>C (p.Lys1618Thr)
c.*3158A>C (n.*3158A>C)
c.4868A>C (p.Lys1623Thr)
c.4982A>C (p.Lys1661Thr)
c.648A>C
c.*2478A>C (n.*2478A>C)
c.4717A>C
c.4772A>C (p.Lys1591Thr)
c.4997A>C (p.Lys1666Thr)
c.4769A>C (p.Lys1590Thr)
c.4913A>C (p.Lys1638Thr)
c.3959A>C (p.Lys1320Thr)
c.4916A>C (p.Lys1639Thr)
c.4910A>C (p.Lys1637Thr)
c.4871A>C (p.Lys1624Thr)
c.4787A>C (p.Lys1596Thr)
c.4979A>C (p.Lys1660Thr)
c.4892A>C (p.Lys1631Thr)
c.4898A>C (p.Lys1633Thr)
c.4829A>C (p.Lys1610Thr)
c.5069A>C (p.Lys1690Thr)
c.5066A>C (p.Lys1689Thr)
c.4988A>C (p.Lys1663Thr)
c.4985A>C (p.Lys1662Thr)
c.4943A>C (p.Lys1648Thr)
c.4940A>C (p.Lys1647Thr)
c.4856A>C (p.Lys1619Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.229787506T=CA1334026958TRIP12c.4817A= (p.Lys1606=)
c.4826A= (p.Lys1609=)
c.4994A= (p.Lys1665=)
c.4853A= (p.Lys1618=)
c.*3158A= (n.*3158A=)
c.4868A= (p.Lys1623=)
c.4982A= (p.Lys1661=)
c.648A=
c.*2478A= (n.*2478A=)
c.4717A=
c.4772A= (p.Lys1591=)
c.4997A= (p.Lys1666=)
c.4769A= (p.Lys1590=)
c.4913A= (p.Lys1638=)
c.3959A= (p.Lys1320=)
c.4916A= (p.Lys1639=)
c.4910A= (p.Lys1637=)
c.4871A= (p.Lys1624=)
c.4787A= (p.Lys1596=)
c.4979A= (p.Lys1660=)
c.4892A= (p.Lys1631=)
c.4898A= (p.Lys1633=)
c.4829A= (p.Lys1610=)
c.5069A= (p.Lys1690=)
c.5066A= (p.Lys1689=)
c.4988A= (p.Lys1663=)
c.4985A= (p.Lys1662=)
c.4943A= (p.Lys1648=)
c.4940A= (p.Lys1647=)
c.4856A= (p.Lys1619=)
2g.229787507T>ACA350892058TRIP12c.4816A>T (p.Lys1606Ter)
c.4825A>T (p.Lys1609Ter)
c.4993A>T (p.Lys1665Ter)
c.4852A>T (p.Lys1618Ter)
c.*3157A>T (n.*3157A>T)
c.4867A>T (p.Lys1623Ter)
c.4981A>T (p.Lys1661Ter)
c.647A>T
c.*2477A>T (n.*2477A>T)
c.4716A>T
c.4771A>T (p.Lys1591Ter)
c.4996A>T (p.Lys1666Ter)
c.4768A>T (p.Lys1590Ter)
c.4912A>T (p.Lys1638Ter)
c.3958A>T (p.Lys1320Ter)
c.4915A>T (p.Lys1639Ter)
c.4909A>T (p.Lys1637Ter)
c.4870A>T (p.Lys1624Ter)
c.4786A>T (p.Lys1596Ter)
c.4978A>T (p.Lys1660Ter)
c.4891A>T (p.Lys1631Ter)
c.4897A>T (p.Lys1633Ter)
c.4828A>T (p.Lys1610Ter)
c.5068A>T (p.Lys1690Ter)
c.5065A>T (p.Lys1689Ter)
c.4987A>T (p.Lys1663Ter)
c.4984A>T (p.Lys1662Ter)
c.4942A>T (p.Lys1648Ter)
c.4939A>T (p.Lys1647Ter)
c.4855A>T (p.Lys1619Ter)
2g.229787507T>CCA350892068TRIP12c.4816A>G (p.Lys1606Glu)
c.4825A>G (p.Lys1609Glu)
c.4993A>G (p.Lys1665Glu)
c.4852A>G (p.Lys1618Glu)
c.*3157A>G (n.*3157A>G)
c.4867A>G (p.Lys1623Glu)
c.4981A>G (p.Lys1661Glu)
c.647A>G
c.*2477A>G (n.*2477A>G)
c.4716A>G
c.4771A>G (p.Lys1591Glu)
c.4996A>G (p.Lys1666Glu)
c.4768A>G (p.Lys1590Glu)
c.4912A>G (p.Lys1638Glu)
c.3958A>G (p.Lys1320Glu)
c.4915A>G (p.Lys1639Glu)
c.4909A>G (p.Lys1637Glu)
c.4870A>G (p.Lys1624Glu)
c.4786A>G (p.Lys1596Glu)
c.4978A>G (p.Lys1660Glu)
c.4891A>G (p.Lys1631Glu)
c.4897A>G (p.Lys1633Glu)
c.4828A>G (p.Lys1610Glu)
c.5068A>G (p.Lys1690Glu)
c.5065A>G (p.Lys1689Glu)
c.4987A>G (p.Lys1663Glu)
c.4984A>G (p.Lys1662Glu)
c.4942A>G (p.Lys1648Glu)
c.4939A>G (p.Lys1647Glu)
c.4855A>G (p.Lys1619Glu)
2g.229787507T>GCA350892078TRIP12c.4816A>C (p.Lys1606Gln)
c.4825A>C (p.Lys1609Gln)
c.4993A>C (p.Lys1665Gln)
c.4852A>C (p.Lys1618Gln)
c.*3157A>C (n.*3157A>C)
c.4867A>C (p.Lys1623Gln)
c.4981A>C (p.Lys1661Gln)
c.647A>C
c.*2477A>C (n.*2477A>C)
c.4716A>C
c.4771A>C (p.Lys1591Gln)
c.4996A>C (p.Lys1666Gln)
c.4768A>C (p.Lys1590Gln)
c.4912A>C (p.Lys1638Gln)
c.3958A>C (p.Lys1320Gln)
c.4915A>C (p.Lys1639Gln)
c.4909A>C (p.Lys1637Gln)
c.4870A>C (p.Lys1624Gln)
c.4786A>C (p.Lys1596Gln)
c.4978A>C (p.Lys1660Gln)
c.4891A>C (p.Lys1631Gln)
c.4897A>C (p.Lys1633Gln)
c.4828A>C (p.Lys1610Gln)
c.5068A>C (p.Lys1690Gln)
c.5065A>C (p.Lys1689Gln)
c.4987A>C (p.Lys1663Gln)
c.4984A>C (p.Lys1662Gln)
c.4942A>C (p.Lys1648Gln)
c.4939A>C (p.Lys1647Gln)
c.4855A>C (p.Lys1619Gln)
2g.229787508T>ACA350892085TRIP12c.4815A>T (p.Lys1605Asn)
c.4824A>T (p.Lys1608Asn)
c.4992A>T (p.Lys1664Asn)
c.4851A>T (p.Lys1617Asn)
c.*3156A>T (n.*3156A>T)
c.4866A>T (p.Lys1622Asn)
c.4980A>T (p.Lys1660Asn)
c.646A>T
c.*2476A>T (n.*2476A>T)
c.4715A>T
c.4770A>T (p.Lys1590Asn)
c.4995A>T (p.Lys1665Asn)
c.4767A>T (p.Lys1589Asn)
c.4911A>T (p.Lys1637Asn)
c.3957A>T (p.Lys1319Asn)
c.4914A>T (p.Lys1638Asn)
c.4908A>T (p.Lys1636Asn)
c.4869A>T (p.Lys1623Asn)
c.4785A>T (p.Lys1595Asn)
c.4977A>T (p.Lys1659Asn)
c.4890A>T (p.Lys1630Asn)
c.4896A>T (p.Lys1632Asn)
c.4827A>T (p.Lys1609Asn)
c.5067A>T (p.Lys1689Asn)
c.5064A>T (p.Lys1688Asn)
c.4986A>T (p.Lys1662Asn)
c.4983A>T (p.Lys1661Asn)
c.4941A>T (p.Lys1647Asn)
c.4938A>T (p.Lys1646Asn)
c.4854A>T (p.Lys1618Asn)
2g.229787508T>CCA431534983TRIP12c.4815A>G (p.Lys1605=)
c.4824A>G (p.Lys1608=)
c.4992A>G (p.Lys1664=)
c.4851A>G (p.Lys1617=)
c.*3156A>G (n.*3156A>G)
c.4866A>G (p.Lys1622=)
c.4980A>G (p.Lys1660=)
c.646A>G
c.*2476A>G (n.*2476A>G)
c.4715A>G
c.4770A>G (p.Lys1590=)
c.4995A>G (p.Lys1665=)
c.4767A>G (p.Lys1589=)
c.4911A>G (p.Lys1637=)
c.3957A>G (p.Lys1319=)
c.4914A>G (p.Lys1638=)
c.4908A>G (p.Lys1636=)
c.4869A>G (p.Lys1623=)
c.4785A>G (p.Lys1595=)
c.4977A>G (p.Lys1659=)
c.4890A>G (p.Lys1630=)
c.4896A>G (p.Lys1632=)
c.4827A>G (p.Lys1609=)
c.5067A>G (p.Lys1689=)
c.5064A>G (p.Lys1688=)
c.4986A>G (p.Lys1662=)
c.4983A>G (p.Lys1661=)
c.4941A>G (p.Lys1647=)
c.4938A>G (p.Lys1646=)
c.4854A>G (p.Lys1618=)
2g.229787508T>GCA350892083TRIP12c.4815A>C (p.Lys1605Asn)
c.4824A>C (p.Lys1608Asn)
c.4992A>C (p.Lys1664Asn)
c.4851A>C (p.Lys1617Asn)
c.*3156A>C (n.*3156A>C)
c.4866A>C (p.Lys1622Asn)
c.4980A>C (p.Lys1660Asn)
c.646A>C
c.*2476A>C (n.*2476A>C)
c.4715A>C
c.4770A>C (p.Lys1590Asn)
c.4995A>C (p.Lys1665Asn)
c.4767A>C (p.Lys1589Asn)
c.4911A>C (p.Lys1637Asn)
c.3957A>C (p.Lys1319Asn)
c.4914A>C (p.Lys1638Asn)
c.4908A>C (p.Lys1636Asn)
c.4869A>C (p.Lys1623Asn)
c.4785A>C (p.Lys1595Asn)
c.4977A>C (p.Lys1659Asn)
c.4890A>C (p.Lys1630Asn)
c.4896A>C (p.Lys1632Asn)
c.4827A>C (p.Lys1609Asn)
c.5067A>C (p.Lys1689Asn)
c.5064A>C (p.Lys1688Asn)
c.4986A>C (p.Lys1662Asn)
c.4983A>C (p.Lys1661Asn)
c.4941A>C (p.Lys1647Asn)
c.4938A>C (p.Lys1646Asn)
c.4854A>C (p.Lys1618Asn)
2g.229787509T>ACA350892089TRIP12c.4814A>T (p.Lys1605Ile)
c.4823A>T (p.Lys1608Ile)
c.4991A>T (p.Lys1664Ile)
c.4850A>T (p.Lys1617Ile)
c.*3155A>T (n.*3155A>T)
c.4865A>T (p.Lys1622Ile)
c.4979A>T (p.Lys1660Ile)
c.645A>T
c.*2475A>T (n.*2475A>T)
c.4714A>T
c.4769A>T (p.Lys1590Ile)
c.4994A>T (p.Lys1665Ile)
c.4766A>T (p.Lys1589Ile)
c.4910A>T (p.Lys1637Ile)
c.3956A>T (p.Lys1319Ile)
c.4913A>T (p.Lys1638Ile)
c.4907A>T (p.Lys1636Ile)
c.4868A>T (p.Lys1623Ile)
c.4784A>T (p.Lys1595Ile)
c.4976A>T (p.Lys1659Ile)
c.4889A>T (p.Lys1630Ile)
c.4895A>T (p.Lys1632Ile)
c.4826A>T (p.Lys1609Ile)
c.5066A>T (p.Lys1689Ile)
c.5063A>T (p.Lys1688Ile)
c.4985A>T (p.Lys1662Ile)
c.4982A>T (p.Lys1661Ile)
c.4940A>T (p.Lys1647Ile)
c.4937A>T (p.Lys1646Ile)
c.4853A>T (p.Lys1618Ile)
2g.229787509T>CCA350892093TRIP12c.4814A>G (p.Lys1605Arg)
c.4823A>G (p.Lys1608Arg)
c.4991A>G (p.Lys1664Arg)
c.4850A>G (p.Lys1617Arg)
c.*3155A>G (n.*3155A>G)
c.4865A>G (p.Lys1622Arg)
c.4979A>G (p.Lys1660Arg)
c.645A>G
c.*2475A>G (n.*2475A>G)
c.4714A>G
c.4769A>G (p.Lys1590Arg)
c.4994A>G (p.Lys1665Arg)
c.4766A>G (p.Lys1589Arg)
c.4910A>G (p.Lys1637Arg)
c.3956A>G (p.Lys1319Arg)
c.4913A>G (p.Lys1638Arg)
c.4907A>G (p.Lys1636Arg)
c.4868A>G (p.Lys1623Arg)
c.4784A>G (p.Lys1595Arg)
c.4976A>G (p.Lys1659Arg)
c.4889A>G (p.Lys1630Arg)
c.4895A>G (p.Lys1632Arg)
c.4826A>G (p.Lys1609Arg)
c.5066A>G (p.Lys1689Arg)
c.5063A>G (p.Lys1688Arg)
c.4985A>G (p.Lys1662Arg)
c.4982A>G (p.Lys1661Arg)
c.4940A>G (p.Lys1647Arg)
c.4937A>G (p.Lys1646Arg)
c.4853A>G (p.Lys1618Arg)
2g.229787509T>GCA350892095TRIP12c.4814A>C (p.Lys1605Thr)
c.4823A>C (p.Lys1608Thr)
c.4991A>C (p.Lys1664Thr)
c.4850A>C (p.Lys1617Thr)
c.*3155A>C (n.*3155A>C)
c.4865A>C (p.Lys1622Thr)
c.4979A>C (p.Lys1660Thr)
c.645A>C
c.*2475A>C (n.*2475A>C)
c.4714A>C
c.4769A>C (p.Lys1590Thr)
c.4994A>C (p.Lys1665Thr)
c.4766A>C (p.Lys1589Thr)
c.4910A>C (p.Lys1637Thr)
c.3956A>C (p.Lys1319Thr)
c.4913A>C (p.Lys1638Thr)
c.4907A>C (p.Lys1636Thr)
c.4868A>C (p.Lys1623Thr)
c.4784A>C (p.Lys1595Thr)
c.4976A>C (p.Lys1659Thr)
c.4889A>C (p.Lys1630Thr)
c.4895A>C (p.Lys1632Thr)
c.4826A>C (p.Lys1609Thr)
c.5066A>C (p.Lys1689Thr)
c.5063A>C (p.Lys1688Thr)
c.4985A>C (p.Lys1662Thr)
c.4982A>C (p.Lys1661Thr)
c.4940A>C (p.Lys1647Thr)
c.4937A>C (p.Lys1646Thr)
c.4853A>C (p.Lys1618Thr)
2g.229787510T>ACA350892100TRIP12c.4813A>T (p.Lys1605Ter)
c.4822A>T (p.Lys1608Ter)
c.4990A>T (p.Lys1664Ter)
c.4849A>T (p.Lys1617Ter)
c.*3154A>T (n.*3154A>T)
c.4864A>T (p.Lys1622Ter)
c.4978A>T (p.Lys1660Ter)
c.644A>T
c.*2474A>T (n.*2474A>T)
c.4713A>T
c.4768A>T (p.Lys1590Ter)
c.4993A>T (p.Lys1665Ter)
c.4765A>T (p.Lys1589Ter)
c.4909A>T (p.Lys1637Ter)
c.3955A>T (p.Lys1319Ter)
c.4912A>T (p.Lys1638Ter)
c.4906A>T (p.Lys1636Ter)
c.4867A>T (p.Lys1623Ter)
c.4783A>T (p.Lys1595Ter)
c.4975A>T (p.Lys1659Ter)
c.4888A>T (p.Lys1630Ter)
c.4894A>T (p.Lys1632Ter)
c.4825A>T (p.Lys1609Ter)
c.5065A>T (p.Lys1689Ter)
c.5062A>T (p.Lys1688Ter)
c.4984A>T (p.Lys1662Ter)
c.4981A>T (p.Lys1661Ter)
c.4939A>T (p.Lys1647Ter)
c.4936A>T (p.Lys1646Ter)
c.4852A>T (p.Lys1618Ter)
2g.229787510T>CCA350892104TRIP12c.4813A>G (p.Lys1605Glu)
c.4822A>G (p.Lys1608Glu)
c.4990A>G (p.Lys1664Glu)
c.4849A>G (p.Lys1617Glu)
c.*3154A>G (n.*3154A>G)
c.4864A>G (p.Lys1622Glu)
c.4978A>G (p.Lys1660Glu)
c.644A>G
c.*2474A>G (n.*2474A>G)
c.4713A>G
c.4768A>G (p.Lys1590Glu)
c.4993A>G (p.Lys1665Glu)
c.4765A>G (p.Lys1589Glu)
c.4909A>G (p.Lys1637Glu)
c.3955A>G (p.Lys1319Glu)
c.4912A>G (p.Lys1638Glu)
c.4906A>G (p.Lys1636Glu)
c.4867A>G (p.Lys1623Glu)
c.4783A>G (p.Lys1595Glu)
c.4975A>G (p.Lys1659Glu)
c.4888A>G (p.Lys1630Glu)
c.4894A>G (p.Lys1632Glu)
c.4825A>G (p.Lys1609Glu)
c.5065A>G (p.Lys1689Glu)
c.5062A>G (p.Lys1688Glu)
c.4984A>G (p.Lys1662Glu)
c.4981A>G (p.Lys1661Glu)
c.4939A>G (p.Lys1647Glu)
c.4936A>G (p.Lys1646Glu)
c.4852A>G (p.Lys1618Glu)
2g.229787510T>GCA350892109TRIP12c.4813A>C (p.Lys1605Gln)
c.4822A>C (p.Lys1608Gln)
c.4990A>C (p.Lys1664Gln)
c.4849A>C (p.Lys1617Gln)
c.*3154A>C (n.*3154A>C)
c.4864A>C (p.Lys1622Gln)
c.4978A>C (p.Lys1660Gln)
c.644A>C
c.*2474A>C (n.*2474A>C)
c.4713A>C
c.4768A>C (p.Lys1590Gln)
c.4993A>C (p.Lys1665Gln)
c.4765A>C (p.Lys1589Gln)
c.4909A>C (p.Lys1637Gln)
c.3955A>C (p.Lys1319Gln)
c.4912A>C (p.Lys1638Gln)
c.4906A>C (p.Lys1636Gln)
c.4867A>C (p.Lys1623Gln)
c.4783A>C (p.Lys1595Gln)
c.4975A>C (p.Lys1659Gln)
c.4888A>C (p.Lys1630Gln)
c.4894A>C (p.Lys1632Gln)
c.4825A>C (p.Lys1609Gln)
c.5065A>C (p.Lys1689Gln)
c.5062A>C (p.Lys1688Gln)
c.4984A>C (p.Lys1662Gln)
c.4981A>C (p.Lys1661Gln)
c.4939A>C (p.Lys1647Gln)
c.4936A>C (p.Lys1646Gln)
c.4852A>C (p.Lys1618Gln)
2g.229787511T>ACA350892110TRIP12c.4812A>T (p.Arg1604Ser)
c.4821A>T (p.Arg1607Ser)
c.4989A>T (p.Arg1663Ser)
c.4848A>T (p.Arg1616Ser)
c.*3153A>T (n.*3153A>T)
c.4863A>T (p.Arg1621Ser)
c.4977A>T (p.Arg1659Ser)
c.643A>T
c.*2473A>T (n.*2473A>T)
c.4712A>T
c.4767A>T (p.Arg1589Ser)
c.4992A>T (p.Arg1664Ser)
c.4764A>T (p.Arg1588Ser)
c.4908A>T (p.Arg1636Ser)
c.3954A>T (p.Arg1318Ser)
c.4911A>T (p.Arg1637Ser)
c.4905A>T (p.Arg1635Ser)
c.4866A>T (p.Arg1622Ser)
c.4782A>T (p.Arg1594Ser)
c.4974A>T (p.Arg1658Ser)
c.4887A>T (p.Arg1629Ser)
c.4893A>T (p.Arg1631Ser)
c.4824A>T (p.Arg1608Ser)
c.5064A>T (p.Arg1688Ser)
c.5061A>T (p.Arg1687Ser)
c.4983A>T (p.Arg1661Ser)
c.4980A>T (p.Arg1660Ser)
c.4938A>T (p.Arg1646Ser)
c.4935A>T (p.Arg1645Ser)
c.4851A>T (p.Arg1617Ser)
2g.229787511T>CCA431534984TRIP12c.4812A>G (p.Arg1604=)
c.4821A>G (p.Arg1607=)
c.4989A>G (p.Arg1663=)
c.4848A>G (p.Arg1616=)
c.*3153A>G (n.*3153A>G)
c.4863A>G (p.Arg1621=)
c.4977A>G (p.Arg1659=)
c.643A>G
c.*2473A>G (n.*2473A>G)
c.4712A>G
c.4767A>G (p.Arg1589=)
c.4992A>G (p.Arg1664=)
c.4764A>G (p.Arg1588=)
c.4908A>G (p.Arg1636=)
c.3954A>G (p.Arg1318=)
c.4911A>G (p.Arg1637=)
c.4905A>G (p.Arg1635=)
c.4866A>G (p.Arg1622=)
c.4782A>G (p.Arg1594=)
c.4974A>G (p.Arg1658=)
c.4887A>G (p.Arg1629=)
c.4893A>G (p.Arg1631=)
c.4824A>G (p.Arg1608=)
c.5064A>G (p.Arg1688=)
c.5061A>G (p.Arg1687=)
c.4983A>G (p.Arg1661=)
c.4980A>G (p.Arg1660=)
c.4938A>G (p.Arg1646=)
c.4935A>G (p.Arg1645=)
c.4851A>G (p.Arg1617=)
2g.229787511T>GCA350892112TRIP12c.4812A>C (p.Arg1604Ser)
c.4821A>C (p.Arg1607Ser)
c.4989A>C (p.Arg1663Ser)
c.4848A>C (p.Arg1616Ser)
c.*3153A>C (n.*3153A>C)
c.4863A>C (p.Arg1621Ser)
c.4977A>C (p.Arg1659Ser)
c.643A>C
c.*2473A>C (n.*2473A>C)
c.4712A>C
c.4767A>C (p.Arg1589Ser)
c.4992A>C (p.Arg1664Ser)
c.4764A>C (p.Arg1588Ser)
c.4908A>C (p.Arg1636Ser)
c.3954A>C (p.Arg1318Ser)
c.4911A>C (p.Arg1637Ser)
c.4905A>C (p.Arg1635Ser)
c.4866A>C (p.Arg1622Ser)
c.4782A>C (p.Arg1594Ser)
c.4974A>C (p.Arg1658Ser)
c.4887A>C (p.Arg1629Ser)
c.4893A>C (p.Arg1631Ser)
c.4824A>C (p.Arg1608Ser)
c.5064A>C (p.Arg1688Ser)
c.5061A>C (p.Arg1687Ser)
c.4983A>C (p.Arg1661Ser)
c.4980A>C (p.Arg1660Ser)
c.4938A>C (p.Arg1646Ser)
c.4935A>C (p.Arg1645Ser)
c.4851A>C (p.Arg1617Ser)
2g.229787512C>ACA350892115TRIP12c.4811G>T (p.Arg1604Ile)
c.4820G>T (p.Arg1607Ile)
c.4988G>T (p.Arg1663Ile)
c.4847G>T (p.Arg1616Ile)
c.*3152G>T (n.*3152G>T)
c.4862G>T (p.Arg1621Ile)
c.4976G>T (p.Arg1659Ile)
c.642G>T
c.*2472G>T (n.*2472G>T)
c.4711G>T
c.4766G>T (p.Arg1589Ile)
c.4991G>T (p.Arg1664Ile)
c.4763G>T (p.Arg1588Ile)
c.4907G>T (p.Arg1636Ile)
c.3953G>T (p.Arg1318Ile)
c.4910G>T (p.Arg1637Ile)
c.4904G>T (p.Arg1635Ile)
c.4865G>T (p.Arg1622Ile)
c.4781G>T (p.Arg1594Ile)
c.4973G>T (p.Arg1658Ile)
c.4886G>T (p.Arg1629Ile)
c.4892G>T (p.Arg1631Ile)
c.4823G>T (p.Arg1608Ile)
c.5063G>T (p.Arg1688Ile)
c.5060G>T (p.Arg1687Ile)
c.4982G>T (p.Arg1661Ile)
c.4979G>T (p.Arg1660Ile)
c.4937G>T (p.Arg1646Ile)
c.4934G>T (p.Arg1645Ile)
c.4850G>T (p.Arg1617Ile)
2g.229787512C=CA1334026959TRIP12c.4811G= (p.Arg1604=)
c.4820G= (p.Arg1607=)
c.4988G= (p.Arg1663=)
c.4847G= (p.Arg1616=)
c.*3152G= (n.*3152G=)
c.4862G= (p.Arg1621=)
c.4976G= (p.Arg1659=)
c.642G=
c.*2472G= (n.*2472G=)
c.4711G=
c.4766G= (p.Arg1589=)
c.4991G= (p.Arg1664=)
c.4763G= (p.Arg1588=)
c.4907G= (p.Arg1636=)
c.3953G= (p.Arg1318=)
c.4910G= (p.Arg1637=)
c.4904G= (p.Arg1635=)
c.4865G= (p.Arg1622=)
c.4781G= (p.Arg1594=)
c.4973G= (p.Arg1658=)
c.4886G= (p.Arg1629=)
c.4892G= (p.Arg1631=)
c.4823G= (p.Arg1608=)
c.5063G= (p.Arg1688=)
c.5060G= (p.Arg1687=)
c.4982G= (p.Arg1661=)
c.4979G= (p.Arg1660=)
c.4937G= (p.Arg1646=)
c.4934G= (p.Arg1645=)
c.4850G= (p.Arg1617=)
2g.229787512C>GCA350892116TRIP12c.4811G>C (p.Arg1604Thr)
c.4820G>C (p.Arg1607Thr)
c.4988G>C (p.Arg1663Thr)
c.4847G>C (p.Arg1616Thr)
c.*3152G>C (n.*3152G>C)
c.4862G>C (p.Arg1621Thr)
c.4976G>C (p.Arg1659Thr)
c.642G>C
c.*2472G>C (n.*2472G>C)
c.4711G>C
c.4766G>C (p.Arg1589Thr)
c.4991G>C (p.Arg1664Thr)
c.4763G>C (p.Arg1588Thr)
c.4907G>C (p.Arg1636Thr)
c.3953G>C (p.Arg1318Thr)
c.4910G>C (p.Arg1637Thr)
c.4904G>C (p.Arg1635Thr)
c.4865G>C (p.Arg1622Thr)
c.4781G>C (p.Arg1594Thr)
c.4973G>C (p.Arg1658Thr)
c.4886G>C (p.Arg1629Thr)
c.4892G>C (p.Arg1631Thr)
c.4823G>C (p.Arg1608Thr)
c.5063G>C (p.Arg1688Thr)
c.5060G>C (p.Arg1687Thr)
c.4982G>C (p.Arg1661Thr)
c.4979G>C (p.Arg1660Thr)
c.4937G>C (p.Arg1646Thr)
c.4934G>C (p.Arg1645Thr)
c.4850G>C (p.Arg1617Thr)
2g.229787512C>TCA350892117TRIP12c.4811G>A (p.Arg1604Lys)
c.4820G>A (p.Arg1607Lys)
c.4988G>A (p.Arg1663Lys)
c.4847G>A (p.Arg1616Lys)
c.*3152G>A (n.*3152G>A)
c.4862G>A (p.Arg1621Lys)
c.4976G>A (p.Arg1659Lys)
c.642G>A
c.*2472G>A (n.*2472G>A)
c.4711G>A
c.4766G>A (p.Arg1589Lys)
c.4991G>A (p.Arg1664Lys)
c.4763G>A (p.Arg1588Lys)
c.4907G>A (p.Arg1636Lys)
c.3953G>A (p.Arg1318Lys)
c.4910G>A (p.Arg1637Lys)
c.4904G>A (p.Arg1635Lys)
c.4865G>A (p.Arg1622Lys)
c.4781G>A (p.Arg1594Lys)
c.4973G>A (p.Arg1658Lys)
c.4886G>A (p.Arg1629Lys)
c.4892G>A (p.Arg1631Lys)
c.4823G>A (p.Arg1608Lys)
c.5063G>A (p.Arg1688Lys)
c.5060G>A (p.Arg1687Lys)
c.4982G>A (p.Arg1661Lys)
c.4979G>A (p.Arg1660Lys)
c.4937G>A (p.Arg1646Lys)
c.4934G>A (p.Arg1645Lys)
c.4850G>A (p.Arg1617Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.229787513T>ACA350892118TRIP12c.4810A>T (p.Arg1604Ter)
c.4819A>T (p.Arg1607Ter)
c.4987A>T (p.Arg1663Ter)
c.4846A>T (p.Arg1616Ter)
c.*3151A>T (n.*3151A>T)
c.4861A>T (p.Arg1621Ter)
c.4975A>T (p.Arg1659Ter)
c.641A>T
c.*2471A>T (n.*2471A>T)
c.4710A>T
c.4765A>T (p.Arg1589Ter)
c.4990A>T (p.Arg1664Ter)
c.4762A>T (p.Arg1588Ter)
c.4906A>T (p.Arg1636Ter)
c.3952A>T (p.Arg1318Ter)
c.4909A>T (p.Arg1637Ter)
c.4903A>T (p.Arg1635Ter)
c.4864A>T (p.Arg1622Ter)
c.4780A>T (p.Arg1594Ter)
c.4972A>T (p.Arg1658Ter)
c.4885A>T (p.Arg1629Ter)
c.4891A>T (p.Arg1631Ter)
c.4822A>T (p.Arg1608Ter)
c.5062A>T (p.Arg1688Ter)
c.5059A>T (p.Arg1687Ter)
c.4981A>T (p.Arg1661Ter)
c.4978A>T (p.Arg1660Ter)
c.4936A>T (p.Arg1646Ter)
c.4933A>T (p.Arg1645Ter)
c.4849A>T (p.Arg1617Ter)
2g.229787513T>CCA350892119TRIP12c.4810A>G (p.Arg1604Gly)
c.4819A>G (p.Arg1607Gly)
c.4987A>G (p.Arg1663Gly)
c.4846A>G (p.Arg1616Gly)
c.*3151A>G (n.*3151A>G)
c.4861A>G (p.Arg1621Gly)
c.4975A>G (p.Arg1659Gly)
c.641A>G
c.*2471A>G (n.*2471A>G)
c.4710A>G
c.4765A>G (p.Arg1589Gly)
c.4990A>G (p.Arg1664Gly)
c.4762A>G (p.Arg1588Gly)
c.4906A>G (p.Arg1636Gly)
c.3952A>G (p.Arg1318Gly)
c.4909A>G (p.Arg1637Gly)
c.4903A>G (p.Arg1635Gly)
c.4864A>G (p.Arg1622Gly)
c.4780A>G (p.Arg1594Gly)
c.4972A>G (p.Arg1658Gly)
c.4885A>G (p.Arg1629Gly)
c.4891A>G (p.Arg1631Gly)
c.4822A>G (p.Arg1608Gly)
c.5062A>G (p.Arg1688Gly)
c.5059A>G (p.Arg1687Gly)
c.4981A>G (p.Arg1661Gly)
c.4978A>G (p.Arg1660Gly)
c.4936A>G (p.Arg1646Gly)
c.4933A>G (p.Arg1645Gly)
c.4849A>G (p.Arg1617Gly)
2g.229787513T>GCA431534985TRIP12c.4810A>C (p.Arg1604=)
c.4819A>C (p.Arg1607=)
c.4987A>C (p.Arg1663=)
c.4846A>C (p.Arg1616=)
c.*3151A>C (n.*3151A>C)
c.4861A>C (p.Arg1621=)
c.4975A>C (p.Arg1659=)
c.641A>C
c.*2471A>C (n.*2471A>C)
c.4710A>C
c.4765A>C (p.Arg1589=)
c.4990A>C (p.Arg1664=)
c.4762A>C (p.Arg1588=)
c.4906A>C (p.Arg1636=)
c.3952A>C (p.Arg1318=)
c.4909A>C (p.Arg1637=)
c.4903A>C (p.Arg1635=)
c.4864A>C (p.Arg1622=)
c.4780A>C (p.Arg1594=)
c.4972A>C (p.Arg1658=)
c.4885A>C (p.Arg1629=)
c.4891A>C (p.Arg1631=)
c.4822A>C (p.Arg1608=)
c.5062A>C (p.Arg1688=)
c.5059A>C (p.Arg1687=)
c.4981A>C (p.Arg1661=)
c.4978A>C (p.Arg1660=)
c.4936A>C (p.Arg1646=)
c.4933A>C (p.Arg1645=)
c.4849A>C (p.Arg1617=)
2g.229787514A=CA1334026960TRIP12c.4809T= (p.Asp1603=)
c.4818T= (p.Asp1606=)
c.4986T= (p.Asp1662=)
c.4845T= (p.Asp1615=)
c.*3150T= (n.*3150T=)
c.4860T= (p.Asp1620=)
c.4974T= (p.Asp1658=)
c.640T=
c.*2470T= (n.*2470T=)
c.4709T=
c.4764T= (p.Asp1588=)
c.4989T= (p.Asp1663=)
c.4761T= (p.Asp1587=)
c.4905T= (p.Asp1635=)
c.3951T= (p.Asp1317=)
c.4908T= (p.Asp1636=)
c.4902T= (p.Asp1634=)
c.4863T= (p.Asp1621=)
c.4779T= (p.Asp1593=)
c.4971T= (p.Asp1657=)
c.4884T= (p.Asp1628=)
c.4890T= (p.Asp1630=)
c.4821T= (p.Asp1607=)
c.5061T= (p.Asp1687=)
c.5058T= (p.Asp1686=)
c.4980T= (p.Asp1660=)
c.4977T= (p.Asp1659=)
c.4935T= (p.Asp1645=)
c.4932T= (p.Asp1644=)
c.4848T= (p.Asp1616=)
2g.229787514A>CCA350892123TRIP12c.4809T>G (p.Asp1603Glu)
c.4818T>G (p.Asp1606Glu)
c.4986T>G (p.Asp1662Glu)
c.4845T>G (p.Asp1615Glu)
c.*3150T>G (n.*3150T>G)
c.4860T>G (p.Asp1620Glu)
c.4974T>G (p.Asp1658Glu)
c.640T>G
c.*2470T>G (n.*2470T>G)
c.4709T>G
c.4764T>G (p.Asp1588Glu)
c.4989T>G (p.Asp1663Glu)
c.4761T>G (p.Asp1587Glu)
c.4905T>G (p.Asp1635Glu)
c.3951T>G (p.Asp1317Glu)
c.4908T>G (p.Asp1636Glu)
c.4902T>G (p.Asp1634Glu)
c.4863T>G (p.Asp1621Glu)
c.4779T>G (p.Asp1593Glu)
c.4971T>G (p.Asp1657Glu)
c.4884T>G (p.Asp1628Glu)
c.4890T>G (p.Asp1630Glu)
c.4821T>G (p.Asp1607Glu)
c.5061T>G (p.Asp1687Glu)
c.5058T>G (p.Asp1686Glu)
c.4980T>G (p.Asp1660Glu)
c.4977T>G (p.Asp1659Glu)
c.4935T>G (p.Asp1645Glu)
c.4932T>G (p.Asp1644Glu)
c.4848T>G (p.Asp1616Glu)
2g.229787514A>GCA431534986TRIP12c.4809T>C (p.Asp1603=)
c.4818T>C (p.Asp1606=)
c.4986T>C (p.Asp1662=)
c.4845T>C (p.Asp1615=)
c.*3150T>C (n.*3150T>C)
c.4860T>C (p.Asp1620=)
c.4974T>C (p.Asp1658=)
c.640T>C
c.*2470T>C (n.*2470T>C)
c.4709T>C
c.4764T>C (p.Asp1588=)
c.4989T>C (p.Asp1663=)
c.4761T>C (p.Asp1587=)
c.4905T>C (p.Asp1635=)
c.3951T>C (p.Asp1317=)
c.4908T>C (p.Asp1636=)
c.4902T>C (p.Asp1634=)
c.4863T>C (p.Asp1621=)
c.4779T>C (p.Asp1593=)
c.4971T>C (p.Asp1657=)
c.4884T>C (p.Asp1628=)
c.4890T>C (p.Asp1630=)
c.4821T>C (p.Asp1607=)
c.5061T>C (p.Asp1687=)
c.5058T>C (p.Asp1686=)
c.4980T>C (p.Asp1660=)
c.4977T>C (p.Asp1659=)
c.4935T>C (p.Asp1645=)
c.4932T>C (p.Asp1644=)
c.4848T>C (p.Asp1616=)
 dbSNP gnomAD v2 gnomAD v4
2g.229787514A>TCA350892120TRIP12c.4809T>A (p.Asp1603Glu)
c.4818T>A (p.Asp1606Glu)
c.4986T>A (p.Asp1662Glu)
c.4845T>A (p.Asp1615Glu)
c.*3150T>A (n.*3150T>A)
c.4860T>A (p.Asp1620Glu)
c.4974T>A (p.Asp1658Glu)
c.640T>A
c.*2470T>A (n.*2470T>A)
c.4709T>A
c.4764T>A (p.Asp1588Glu)
c.4989T>A (p.Asp1663Glu)
c.4761T>A (p.Asp1587Glu)
c.4905T>A (p.Asp1635Glu)
c.3951T>A (p.Asp1317Glu)
c.4908T>A (p.Asp1636Glu)
c.4902T>A (p.Asp1634Glu)
c.4863T>A (p.Asp1621Glu)
c.4779T>A (p.Asp1593Glu)
c.4971T>A (p.Asp1657Glu)
c.4884T>A (p.Asp1628Glu)
c.4890T>A (p.Asp1630Glu)
c.4821T>A (p.Asp1607Glu)
c.5061T>A (p.Asp1687Glu)
c.5058T>A (p.Asp1686Glu)
c.4980T>A (p.Asp1660Glu)
c.4977T>A (p.Asp1659Glu)
c.4935T>A (p.Asp1645Glu)
c.4932T>A (p.Asp1644Glu)
c.4848T>A (p.Asp1616Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.229787515T>ACA350892126TRIP12c.4808A>T (p.Asp1603Val)
c.4817A>T (p.Asp1606Val)
c.4985A>T (p.Asp1662Val)
c.4844A>T (p.Asp1615Val)
c.*3149A>T (n.*3149A>T)
c.4859A>T (p.Asp1620Val)
c.4973A>T (p.Asp1658Val)
c.639A>T
c.*2469A>T (n.*2469A>T)
c.4708A>T
c.4763A>T (p.Asp1588Val)
c.4988A>T (p.Asp1663Val)
c.4760A>T (p.Asp1587Val)
c.4904A>T (p.Asp1635Val)
c.3950A>T (p.Asp1317Val)
c.4907A>T (p.Asp1636Val)
c.4901A>T (p.Asp1634Val)
c.4862A>T (p.Asp1621Val)
c.4778A>T (p.Asp1593Val)
c.4970A>T (p.Asp1657Val)
c.4883A>T (p.Asp1628Val)
c.4889A>T (p.Asp1630Val)
c.4820A>T (p.Asp1607Val)
c.5060A>T (p.Asp1687Val)
c.5057A>T (p.Asp1686Val)
c.4979A>T (p.Asp1660Val)
c.4976A>T (p.Asp1659Val)
c.4934A>T (p.Asp1645Val)
c.4931A>T (p.Asp1644Val)
c.4847A>T (p.Asp1616Val)
 gnomAD v4
2g.229787515T>CCA350892130TRIP12c.4808A>G (p.Asp1603Gly)
c.4817A>G (p.Asp1606Gly)
c.4985A>G (p.Asp1662Gly)
c.4844A>G (p.Asp1615Gly)
c.*3149A>G (n.*3149A>G)
c.4859A>G (p.Asp1620Gly)
c.4973A>G (p.Asp1658Gly)
c.639A>G
c.*2469A>G (n.*2469A>G)
c.4708A>G
c.4763A>G (p.Asp1588Gly)
c.4988A>G (p.Asp1663Gly)
c.4760A>G (p.Asp1587Gly)
c.4904A>G (p.Asp1635Gly)
c.3950A>G (p.Asp1317Gly)
c.4907A>G (p.Asp1636Gly)
c.4901A>G (p.Asp1634Gly)
c.4862A>G (p.Asp1621Gly)
c.4778A>G (p.Asp1593Gly)
c.4970A>G (p.Asp1657Gly)
c.4883A>G (p.Asp1628Gly)
c.4889A>G (p.Asp1630Gly)
c.4820A>G (p.Asp1607Gly)
c.5060A>G (p.Asp1687Gly)
c.5057A>G (p.Asp1686Gly)
c.4979A>G (p.Asp1660Gly)
c.4976A>G (p.Asp1659Gly)
c.4934A>G (p.Asp1645Gly)
c.4931A>G (p.Asp1644Gly)
c.4847A>G (p.Asp1616Gly)
2g.229787515T>GCA350892128TRIP12c.4808A>C (p.Asp1603Ala)
c.4817A>C (p.Asp1606Ala)
c.4985A>C (p.Asp1662Ala)
c.4844A>C (p.Asp1615Ala)
c.*3149A>C (n.*3149A>C)
c.4859A>C (p.Asp1620Ala)
c.4973A>C (p.Asp1658Ala)
c.639A>C
c.*2469A>C (n.*2469A>C)
c.4708A>C
c.4763A>C (p.Asp1588Ala)
c.4988A>C (p.Asp1663Ala)
c.4760A>C (p.Asp1587Ala)
c.4904A>C (p.Asp1635Ala)
c.3950A>C (p.Asp1317Ala)
c.4907A>C (p.Asp1636Ala)
c.4901A>C (p.Asp1634Ala)
c.4862A>C (p.Asp1621Ala)
c.4778A>C (p.Asp1593Ala)
c.4970A>C (p.Asp1657Ala)
c.4883A>C (p.Asp1628Ala)
c.4889A>C (p.Asp1630Ala)
c.4820A>C (p.Asp1607Ala)
c.5060A>C (p.Asp1687Ala)
c.5057A>C (p.Asp1686Ala)
c.4979A>C (p.Asp1660Ala)
c.4976A>C (p.Asp1659Ala)
c.4934A>C (p.Asp1645Ala)
c.4931A>C (p.Asp1644Ala)
c.4847A>C (p.Asp1616Ala)
2g.229787516C>ACA350892132TRIP12c.4807G>T (p.Asp1603Tyr)
c.4816G>T (p.Asp1606Tyr)
c.4984G>T (p.Asp1662Tyr)
c.4843G>T (p.Asp1615Tyr)
c.*3148G>T (n.*3148G>T)
c.4858G>T (p.Asp1620Tyr)
c.4972G>T (p.Asp1658Tyr)
c.638G>T
c.*2468G>T (n.*2468G>T)
c.4707G>T
c.4762G>T (p.Asp1588Tyr)
c.4987G>T (p.Asp1663Tyr)
c.4759G>T (p.Asp1587Tyr)
c.4903G>T (p.Asp1635Tyr)
c.3949G>T (p.Asp1317Tyr)
c.4906G>T (p.Asp1636Tyr)
c.4900G>T (p.Asp1634Tyr)
c.4861G>T (p.Asp1621Tyr)
c.4777G>T (p.Asp1593Tyr)
c.4969G>T (p.Asp1657Tyr)
c.4882G>T (p.Asp1628Tyr)
c.4888G>T (p.Asp1630Tyr)
c.4819G>T (p.Asp1607Tyr)
c.5059G>T (p.Asp1687Tyr)
c.5056G>T (p.Asp1686Tyr)
c.4978G>T (p.Asp1660Tyr)
c.4975G>T (p.Asp1659Tyr)
c.4933G>T (p.Asp1645Tyr)
c.4930G>T (p.Asp1644Tyr)
c.4846G>T (p.Asp1616Tyr)
 gnomAD v4
2g.229787516C>GCA350892137TRIP12c.4807G>C (p.Asp1603His)
c.4816G>C (p.Asp1606His)
c.4984G>C (p.Asp1662His)
c.4843G>C (p.Asp1615His)
c.*3148G>C (n.*3148G>C)
c.4858G>C (p.Asp1620His)
c.4972G>C (p.Asp1658His)
c.638G>C
c.*2468G>C (n.*2468G>C)
c.4707G>C
c.4762G>C (p.Asp1588His)
c.4987G>C (p.Asp1663His)
c.4759G>C (p.Asp1587His)
c.4903G>C (p.Asp1635His)
c.3949G>C (p.Asp1317His)
c.4906G>C (p.Asp1636His)
c.4900G>C (p.Asp1634His)
c.4861G>C (p.Asp1621His)
c.4777G>C (p.Asp1593His)
c.4969G>C (p.Asp1657His)
c.4882G>C (p.Asp1628His)
c.4888G>C (p.Asp1630His)
c.4819G>C (p.Asp1607His)
c.5059G>C (p.Asp1687His)
c.5056G>C (p.Asp1686His)
c.4978G>C (p.Asp1660His)
c.4975G>C (p.Asp1659His)
c.4933G>C (p.Asp1645His)
c.4930G>C (p.Asp1644His)
c.4846G>C (p.Asp1616His)
2g.229787516C>TCA350892135TRIP12c.4807G>A (p.Asp1603Asn)
c.4816G>A (p.Asp1606Asn)
c.4984G>A (p.Asp1662Asn)
c.4843G>A (p.Asp1615Asn)
c.*3148G>A (n.*3148G>A)
c.4858G>A (p.Asp1620Asn)
c.4972G>A (p.Asp1658Asn)
c.638G>A
c.*2468G>A (n.*2468G>A)
c.4707G>A
c.4762G>A (p.Asp1588Asn)
c.4987G>A (p.Asp1663Asn)
c.4759G>A (p.Asp1587Asn)
c.4903G>A (p.Asp1635Asn)
c.3949G>A (p.Asp1317Asn)
c.4906G>A (p.Asp1636Asn)
c.4900G>A (p.Asp1634Asn)
c.4861G>A (p.Asp1621Asn)
c.4777G>A (p.Asp1593Asn)
c.4969G>A (p.Asp1657Asn)
c.4882G>A (p.Asp1628Asn)
c.4888G>A (p.Asp1630Asn)
c.4819G>A (p.Asp1607Asn)
c.5059G>A (p.Asp1687Asn)
c.5056G>A (p.Asp1686Asn)
c.4978G>A (p.Asp1660Asn)
c.4975G>A (p.Asp1659Asn)
c.4933G>A (p.Asp1645Asn)
c.4930G>A (p.Asp1644Asn)
c.4846G>A (p.Asp1616Asn)
 gnomAD v4
2g.229787516_229787519delCA2663472572TRIP12c.4804_4807del (p.Leu1602IlefsTer7)
c.4813_4816del (p.Leu1605IlefsTer7)
c.4981_4984del (p.Leu1661IlefsTer7)
c.4840_4843del (p.Leu1614IlefsTer7)
c.*3145_*3148del (n.*3145_*3148del)
c.4855_4858del (p.Leu1619IlefsTer7)
c.4969_4972del (p.Leu1657IlefsTer7)
c.635_638del
c.*2465_*2468del (n.*2465_*2468del)
c.4704_4707del
c.4759_4762del (p.Leu1587IlefsTer7)
c.4984_4987del (p.Leu1662IlefsTer7)
c.4756_4759del (p.Leu1586IlefsTer7)
c.4900_4903del (p.Leu1634IlefsTer7)
c.3946_3949del (p.Leu1316IlefsTer7)
c.4903_4906del (p.Leu1635IlefsTer7)
c.4897_4900del (p.Leu1633IlefsTer7)
c.4858_4861del (p.Leu1620IlefsTer7)
c.4774_4777del (p.Leu1592IlefsTer7)
c.4966_4969del (p.Leu1656IlefsTer7)
c.4879_4882del (p.Leu1627IlefsTer7)
c.4885_4888del (p.Leu1629IlefsTer7)
c.4816_4819del (p.Leu1606IlefsTer7)
c.5056_5059del (p.Leu1686IlefsTer7)
c.5053_5056del (p.Leu1685IlefsTer7)
c.4975_4978del (p.Leu1659IlefsTer7)
c.4972_4975del (p.Leu1658IlefsTer7)
c.4930_4933del (p.Leu1644IlefsTer7)
c.4927_4930del (p.Leu1643IlefsTer7)
c.4843_4846del (p.Leu1615IlefsTer7)
 gnomAD v4
2g.229787517C>ACA350892141TRIP12c.4806G>T (p.Leu1602Phe)
c.4815G>T (p.Leu1605Phe)
c.4983G>T (p.Leu1661Phe)
c.4842G>T (p.Leu1614Phe)
c.*3147G>T (n.*3147G>T)
c.4857G>T (p.Leu1619Phe)
c.4971G>T (p.Leu1657Phe)
c.637G>T
c.*2467G>T (n.*2467G>T)
c.4706G>T
c.4761G>T (p.Leu1587Phe)
c.4986G>T (p.Leu1662Phe)
c.4758G>T (p.Leu1586Phe)
c.4902G>T (p.Leu1634Phe)
c.3948G>T (p.Leu1316Phe)
c.4905G>T (p.Leu1635Phe)
c.4899G>T (p.Leu1633Phe)
c.4860G>T (p.Leu1620Phe)
c.4776G>T (p.Leu1592Phe)
c.4968G>T (p.Leu1656Phe)
c.4881G>T (p.Leu1627Phe)
c.4887G>T (p.Leu1629Phe)
c.4818G>T (p.Leu1606Phe)
c.5058G>T (p.Leu1686Phe)
c.5055G>T (p.Leu1685Phe)
c.4977G>T (p.Leu1659Phe)
c.4974G>T (p.Leu1658Phe)
c.4932G>T (p.Leu1644Phe)
c.4929G>T (p.Leu1643Phe)
c.4845G>T (p.Leu1615Phe)
2g.229787517C>GCA350892147TRIP12c.4806G>C (p.Leu1602Phe)
c.4815G>C (p.Leu1605Phe)
c.4983G>C (p.Leu1661Phe)
c.4842G>C (p.Leu1614Phe)
c.*3147G>C (n.*3147G>C)
c.4857G>C (p.Leu1619Phe)
c.4971G>C (p.Leu1657Phe)
c.637G>C
c.*2467G>C (n.*2467G>C)
c.4706G>C
c.4761G>C (p.Leu1587Phe)
c.4986G>C (p.Leu1662Phe)
c.4758G>C (p.Leu1586Phe)
c.4902G>C (p.Leu1634Phe)
c.3948G>C (p.Leu1316Phe)
c.4905G>C (p.Leu1635Phe)
c.4899G>C (p.Leu1633Phe)
c.4860G>C (p.Leu1620Phe)
c.4776G>C (p.Leu1592Phe)
c.4968G>C (p.Leu1656Phe)
c.4881G>C (p.Leu1627Phe)
c.4887G>C (p.Leu1629Phe)
c.4818G>C (p.Leu1606Phe)
c.5058G>C (p.Leu1686Phe)
c.5055G>C (p.Leu1685Phe)
c.4977G>C (p.Leu1659Phe)
c.4974G>C (p.Leu1658Phe)
c.4932G>C (p.Leu1644Phe)
c.4929G>C (p.Leu1643Phe)
c.4845G>C (p.Leu1615Phe)
2g.229787517C>TCA431534987TRIP12c.4806G>A (p.Leu1602=)
c.4815G>A (p.Leu1605=)
c.4983G>A (p.Leu1661=)
c.4842G>A (p.Leu1614=)
c.*3147G>A (n.*3147G>A)
c.4857G>A (p.Leu1619=)
c.4971G>A (p.Leu1657=)
c.637G>A
c.*2467G>A (n.*2467G>A)
c.4706G>A
c.4761G>A (p.Leu1587=)
c.4986G>A (p.Leu1662=)
c.4758G>A (p.Leu1586=)
c.4902G>A (p.Leu1634=)
c.3948G>A (p.Leu1316=)
c.4905G>A (p.Leu1635=)
c.4899G>A (p.Leu1633=)
c.4860G>A (p.Leu1620=)
c.4776G>A (p.Leu1592=)
c.4968G>A (p.Leu1656=)
c.4881G>A (p.Leu1627=)
c.4887G>A (p.Leu1629=)
c.4818G>A (p.Leu1606=)
c.5058G>A (p.Leu1686=)
c.5055G>A (p.Leu1685=)
c.4977G>A (p.Leu1659=)
c.4974G>A (p.Leu1658=)
c.4932G>A (p.Leu1644=)
c.4929G>A (p.Leu1643=)
c.4845G>A (p.Leu1615=)
 gnomAD v4
2g.229787518A>CCA350892151TRIP12c.4805T>G (p.Leu1602Trp)
c.4814T>G (p.Leu1605Trp)
c.4982T>G (p.Leu1661Trp)
c.4841T>G (p.Leu1614Trp)
c.*3146T>G (n.*3146T>G)
c.4856T>G (p.Leu1619Trp)
c.4970T>G (p.Leu1657Trp)
c.636T>G
c.*2466T>G (n.*2466T>G)
c.4705T>G
c.4760T>G (p.Leu1587Trp)
c.4985T>G (p.Leu1662Trp)
c.4757T>G (p.Leu1586Trp)
c.4901T>G (p.Leu1634Trp)
c.3947T>G (p.Leu1316Trp)
c.4904T>G (p.Leu1635Trp)
c.4898T>G (p.Leu1633Trp)
c.4859T>G (p.Leu1620Trp)
c.4775T>G (p.Leu1592Trp)
c.4967T>G (p.Leu1656Trp)
c.4880T>G (p.Leu1627Trp)
c.4886T>G (p.Leu1629Trp)
c.4817T>G (p.Leu1606Trp)
c.5057T>G (p.Leu1686Trp)
c.5054T>G (p.Leu1685Trp)
c.4976T>G (p.Leu1659Trp)
c.4973T>G (p.Leu1658Trp)
c.4931T>G (p.Leu1644Trp)
c.4928T>G (p.Leu1643Trp)
c.4844T>G (p.Leu1615Trp)
2g.229787518A>GCA350892154TRIP12c.4805T>C (p.Leu1602Ser)
c.4814T>C (p.Leu1605Ser)
c.4982T>C (p.Leu1661Ser)
c.4841T>C (p.Leu1614Ser)
c.*3146T>C (n.*3146T>C)
c.4856T>C (p.Leu1619Ser)
c.4970T>C (p.Leu1657Ser)
c.636T>C
c.*2466T>C (n.*2466T>C)
c.4705T>C
c.4760T>C (p.Leu1587Ser)
c.4985T>C (p.Leu1662Ser)
c.4757T>C (p.Leu1586Ser)
c.4901T>C (p.Leu1634Ser)
c.3947T>C (p.Leu1316Ser)
c.4904T>C (p.Leu1635Ser)
c.4898T>C (p.Leu1633Ser)
c.4859T>C (p.Leu1620Ser)
c.4775T>C (p.Leu1592Ser)
c.4967T>C (p.Leu1656Ser)
c.4880T>C (p.Leu1627Ser)
c.4886T>C (p.Leu1629Ser)
c.4817T>C (p.Leu1606Ser)
c.5057T>C (p.Leu1686Ser)
c.5054T>C (p.Leu1685Ser)
c.4976T>C (p.Leu1659Ser)
c.4973T>C (p.Leu1658Ser)
c.4931T>C (p.Leu1644Ser)
c.4928T>C (p.Leu1643Ser)
c.4844T>C (p.Leu1615Ser)
2g.229787518A>TCA350892159TRIP12c.4805T>A (p.Leu1602Ter)
c.4814T>A (p.Leu1605Ter)
c.4982T>A (p.Leu1661Ter)
c.4841T>A (p.Leu1614Ter)
c.*3146T>A (n.*3146T>A)
c.4856T>A (p.Leu1619Ter)
c.4970T>A (p.Leu1657Ter)
c.636T>A
c.*2466T>A (n.*2466T>A)
c.4705T>A
c.4760T>A (p.Leu1587Ter)
c.4985T>A (p.Leu1662Ter)
c.4757T>A (p.Leu1586Ter)
c.4901T>A (p.Leu1634Ter)
c.3947T>A (p.Leu1316Ter)
c.4904T>A (p.Leu1635Ter)
c.4898T>A (p.Leu1633Ter)
c.4859T>A (p.Leu1620Ter)
c.4775T>A (p.Leu1592Ter)
c.4967T>A (p.Leu1656Ter)
c.4880T>A (p.Leu1627Ter)
c.4886T>A (p.Leu1629Ter)
c.4817T>A (p.Leu1606Ter)
c.5057T>A (p.Leu1686Ter)
c.5054T>A (p.Leu1685Ter)
c.4976T>A (p.Leu1659Ter)
c.4973T>A (p.Leu1658Ter)
c.4931T>A (p.Leu1644Ter)
c.4928T>A (p.Leu1643Ter)
c.4844T>A (p.Leu1615Ter)
2g.229787519A>CCA350892165TRIP12c.4804T>G (p.Leu1602Val)
c.4813T>G (p.Leu1605Val)
c.4981T>G (p.Leu1661Val)
c.4840T>G (p.Leu1614Val)
c.*3145T>G (n.*3145T>G)
c.4855T>G (p.Leu1619Val)
c.4969T>G (p.Leu1657Val)
c.635T>G
c.*2465T>G (n.*2465T>G)
c.4704T>G
c.4759T>G (p.Leu1587Val)
c.4984T>G (p.Leu1662Val)
c.4756T>G (p.Leu1586Val)
c.4900T>G (p.Leu1634Val)
c.3946T>G (p.Leu1316Val)
c.4903T>G (p.Leu1635Val)
c.4897T>G (p.Leu1633Val)
c.4858T>G (p.Leu1620Val)
c.4774T>G (p.Leu1592Val)
c.4966T>G (p.Leu1656Val)
c.4879T>G (p.Leu1627Val)
c.4885T>G (p.Leu1629Val)
c.4816T>G (p.Leu1606Val)
c.5056T>G (p.Leu1686Val)
c.5053T>G (p.Leu1685Val)
c.4975T>G (p.Leu1659Val)
c.4972T>G (p.Leu1658Val)
c.4930T>G (p.Leu1644Val)
c.4927T>G (p.Leu1643Val)
c.4843T>G (p.Leu1615Val)
2g.229787519A>GCA431534988TRIP12c.4804T>C (p.Leu1602=)
c.4813T>C (p.Leu1605=)
c.4981T>C (p.Leu1661=)
c.4840T>C (p.Leu1614=)
c.*3145T>C (n.*3145T>C)
c.4855T>C (p.Leu1619=)
c.4969T>C (p.Leu1657=)
c.635T>C
c.*2465T>C (n.*2465T>C)
c.4704T>C
c.4759T>C (p.Leu1587=)
c.4984T>C (p.Leu1662=)
c.4756T>C (p.Leu1586=)
c.4900T>C (p.Leu1634=)
c.3946T>C (p.Leu1316=)
c.4903T>C (p.Leu1635=)
c.4897T>C (p.Leu1633=)
c.4858T>C (p.Leu1620=)
c.4774T>C (p.Leu1592=)
c.4966T>C (p.Leu1656=)
c.4879T>C (p.Leu1627=)
c.4885T>C (p.Leu1629=)
c.4816T>C (p.Leu1606=)
c.5056T>C (p.Leu1686=)
c.5053T>C (p.Leu1685=)
c.4975T>C (p.Leu1659=)
c.4972T>C (p.Leu1658=)
c.4930T>C (p.Leu1644=)
c.4927T>C (p.Leu1643=)
c.4843T>C (p.Leu1615=)
2g.229787519A>TCA350892169TRIP12c.4804T>A (p.Leu1602Met)
c.4813T>A (p.Leu1605Met)
c.4981T>A (p.Leu1661Met)
c.4840T>A (p.Leu1614Met)
c.*3145T>A (n.*3145T>A)
c.4855T>A (p.Leu1619Met)
c.4969T>A (p.Leu1657Met)
c.635T>A
c.*2465T>A (n.*2465T>A)
c.4704T>A
c.4759T>A (p.Leu1587Met)
c.4984T>A (p.Leu1662Met)
c.4756T>A (p.Leu1586Met)
c.4900T>A (p.Leu1634Met)
c.3946T>A (p.Leu1316Met)
c.4903T>A (p.Leu1635Met)
c.4897T>A (p.Leu1633Met)
c.4858T>A (p.Leu1620Met)
c.4774T>A (p.Leu1592Met)
c.4966T>A (p.Leu1656Met)
c.4879T>A (p.Leu1627Met)
c.4885T>A (p.Leu1629Met)
c.4816T>A (p.Leu1606Met)
c.5056T>A (p.Leu1686Met)
c.5053T>A (p.Leu1685Met)
c.4975T>A (p.Leu1659Met)
c.4972T>A (p.Leu1658Met)
c.4930T>A (p.Leu1644Met)
c.4927T>A (p.Leu1643Met)
c.4843T>A (p.Leu1615Met)
2g.229787520T>ACA350892172TRIP12c.4803A>T (p.Arg1601Ser)
c.4812A>T (p.Arg1604Ser)
c.4980A>T (p.Arg1660Ser)
c.4839A>T (p.Arg1613Ser)
c.*3144A>T (n.*3144A>T)
c.4854A>T (p.Arg1618Ser)
c.4968A>T (p.Arg1656Ser)
c.634A>T
c.*2464A>T (n.*2464A>T)
c.4703A>T
c.4758A>T (p.Arg1586Ser)
c.4983A>T (p.Arg1661Ser)
c.4755A>T (p.Arg1585Ser)
c.4899A>T (p.Arg1633Ser)
c.3945A>T (p.Arg1315Ser)
c.4902A>T (p.Arg1634Ser)
c.4896A>T (p.Arg1632Ser)
c.4857A>T (p.Arg1619Ser)
c.4773A>T (p.Arg1591Ser)
c.4965A>T (p.Arg1655Ser)
c.4878A>T (p.Arg1626Ser)
c.4884A>T (p.Arg1628Ser)
c.4815A>T (p.Arg1605Ser)
c.5055A>T (p.Arg1685Ser)
c.5052A>T (p.Arg1684Ser)
c.4974A>T (p.Arg1658Ser)
c.4971A>T (p.Arg1657Ser)
c.4929A>T (p.Arg1643Ser)
c.4926A>T (p.Arg1642Ser)
c.4842A>T (p.Arg1614Ser)
2g.229787520T>CCA431534989TRIP12c.4803A>G (p.Arg1601=)
c.4812A>G (p.Arg1604=)
c.4980A>G (p.Arg1660=)
c.4839A>G (p.Arg1613=)
c.*3144A>G (n.*3144A>G)
c.4854A>G (p.Arg1618=)
c.4968A>G (p.Arg1656=)
c.634A>G
c.*2464A>G (n.*2464A>G)
c.4703A>G
c.4758A>G (p.Arg1586=)
c.4983A>G (p.Arg1661=)
c.4755A>G (p.Arg1585=)
c.4899A>G (p.Arg1633=)
c.3945A>G (p.Arg1315=)
c.4902A>G (p.Arg1634=)
c.4896A>G (p.Arg1632=)
c.4857A>G (p.Arg1619=)
c.4773A>G (p.Arg1591=)
c.4965A>G (p.Arg1655=)
c.4878A>G (p.Arg1626=)
c.4884A>G (p.Arg1628=)
c.4815A>G (p.Arg1605=)
c.5055A>G (p.Arg1685=)
c.5052A>G (p.Arg1684=)
c.4974A>G (p.Arg1658=)
c.4971A>G (p.Arg1657=)
c.4929A>G (p.Arg1643=)
c.4926A>G (p.Arg1642=)
c.4842A>G (p.Arg1614=)
2g.229787520T>GCA350892174TRIP12c.4803A>C (p.Arg1601Ser)
c.4812A>C (p.Arg1604Ser)
c.4980A>C (p.Arg1660Ser)
c.4839A>C (p.Arg1613Ser)
c.*3144A>C (n.*3144A>C)
c.4854A>C (p.Arg1618Ser)
c.4968A>C (p.Arg1656Ser)
c.634A>C
c.*2464A>C (n.*2464A>C)
c.4703A>C
c.4758A>C (p.Arg1586Ser)
c.4983A>C (p.Arg1661Ser)
c.4755A>C (p.Arg1585Ser)
c.4899A>C (p.Arg1633Ser)
c.3945A>C (p.Arg1315Ser)
c.4902A>C (p.Arg1634Ser)
c.4896A>C (p.Arg1632Ser)
c.4857A>C (p.Arg1619Ser)
c.4773A>C (p.Arg1591Ser)
c.4965A>C (p.Arg1655Ser)
c.4878A>C (p.Arg1626Ser)
c.4884A>C (p.Arg1628Ser)
c.4815A>C (p.Arg1605Ser)
c.5055A>C (p.Arg1685Ser)
c.5052A>C (p.Arg1684Ser)
c.4974A>C (p.Arg1658Ser)
c.4971A>C (p.Arg1657Ser)
c.4929A>C (p.Arg1643Ser)
c.4926A>C (p.Arg1642Ser)
c.4842A>C (p.Arg1614Ser)
2g.229787520_229787521insTTTTCA2754576153TRIP12c.4803_4804insAAAA (p.Leu1602LysfsTer4)
c.4812_4813insAAAA (p.Leu1605LysfsTer4)
c.4980_4981insAAAA (p.Leu1661LysfsTer4)
c.4839_4840insAAAA (p.Leu1614LysfsTer4)
c.*3144_*3145insAAAA (n.*3144_*3145insAAAA)
c.4854_4855insAAAA (p.Leu1619LysfsTer4)
c.4968_4969insAAAA (p.Leu1657LysfsTer4)
c.634_635insAAAA
c.*2464_*2465insAAAA (n.*2464_*2465insAAAA)
c.4703_4704insAAAA
c.4758_4759insAAAA (p.Leu1587LysfsTer4)
c.4983_4984insAAAA (p.Leu1662LysfsTer4)
c.4755_4756insAAAA (p.Leu1586LysfsTer4)
c.4899_4900insAAAA (p.Leu1634LysfsTer4)
c.3945_3946insAAAA (p.Leu1316LysfsTer4)
c.4902_4903insAAAA (p.Leu1635LysfsTer4)
c.4896_4897insAAAA (p.Leu1633LysfsTer4)
c.4857_4858insAAAA (p.Leu1620LysfsTer4)
c.4773_4774insAAAA (p.Leu1592LysfsTer4)
c.4965_4966insAAAA (p.Leu1656LysfsTer4)
c.4878_4879insAAAA (p.Leu1627LysfsTer4)
c.4884_4885insAAAA (p.Leu1629LysfsTer4)
c.4815_4816insAAAA (p.Leu1606LysfsTer4)
c.5055_5056insAAAA (p.Leu1686LysfsTer4)
c.5052_5053insAAAA (p.Leu1685LysfsTer4)
c.4974_4975insAAAA (p.Leu1659LysfsTer4)
c.4971_4972insAAAA (p.Leu1658LysfsTer4)
c.4929_4930insAAAA (p.Leu1644LysfsTer4)
c.4926_4927insAAAA (p.Leu1643LysfsTer4)
c.4842_4843insAAAA (p.Leu1615LysfsTer4)
2g.229787521C>ACA350892177TRIP12c.4802G>T (p.Arg1601Ile)
c.4811G>T (p.Arg1604Ile)
c.4979G>T (p.Arg1660Ile)
c.4838G>T (p.Arg1613Ile)
c.*3143G>T (n.*3143G>T)
c.4853G>T (p.Arg1618Ile)
c.4967G>T (p.Arg1656Ile)
c.633G>T
c.*2463G>T (n.*2463G>T)
c.4702G>T
c.4757G>T (p.Arg1586Ile)
c.4982G>T (p.Arg1661Ile)
c.4754G>T (p.Arg1585Ile)
c.4898G>T (p.Arg1633Ile)
c.3944G>T (p.Arg1315Ile)
c.4901G>T (p.Arg1634Ile)
c.4895G>T (p.Arg1632Ile)
c.4856G>T (p.Arg1619Ile)
c.4772G>T (p.Arg1591Ile)
c.4964G>T (p.Arg1655Ile)
c.4877G>T (p.Arg1626Ile)
c.4883G>T (p.Arg1628Ile)
c.4814G>T (p.Arg1605Ile)
c.5054G>T (p.Arg1685Ile)
c.5051G>T (p.Arg1684Ile)
c.4973G>T (p.Arg1658Ile)
c.4970G>T (p.Arg1657Ile)
c.4928G>T (p.Arg1643Ile)
c.4925G>T (p.Arg1642Ile)
c.4841G>T (p.Arg1614Ile)
2g.229787521C>GCA350892178TRIP12c.4802G>C (p.Arg1601Thr)
c.4811G>C (p.Arg1604Thr)
c.4979G>C (p.Arg1660Thr)
c.4838G>C (p.Arg1613Thr)
c.*3143G>C (n.*3143G>C)
c.4853G>C (p.Arg1618Thr)
c.4967G>C (p.Arg1656Thr)
c.633G>C
c.*2463G>C (n.*2463G>C)
c.4702G>C
c.4757G>C (p.Arg1586Thr)
c.4982G>C (p.Arg1661Thr)
c.4754G>C (p.Arg1585Thr)
c.4898G>C (p.Arg1633Thr)
c.3944G>C (p.Arg1315Thr)
c.4901G>C (p.Arg1634Thr)
c.4895G>C (p.Arg1632Thr)
c.4856G>C (p.Arg1619Thr)
c.4772G>C (p.Arg1591Thr)
c.4964G>C (p.Arg1655Thr)
c.4877G>C (p.Arg1626Thr)
c.4883G>C (p.Arg1628Thr)
c.4814G>C (p.Arg1605Thr)
c.5054G>C (p.Arg1685Thr)
c.5051G>C (p.Arg1684Thr)
c.4973G>C (p.Arg1658Thr)
c.4970G>C (p.Arg1657Thr)
c.4928G>C (p.Arg1643Thr)
c.4925G>C (p.Arg1642Thr)
c.4841G>C (p.Arg1614Thr)
2g.229787521C>TCA350892182TRIP12c.4802G>A (p.Arg1601Lys)
c.4811G>A (p.Arg1604Lys)
c.4979G>A (p.Arg1660Lys)
c.4838G>A (p.Arg1613Lys)
c.*3143G>A (n.*3143G>A)
c.4853G>A (p.Arg1618Lys)
c.4967G>A (p.Arg1656Lys)
c.633G>A
c.*2463G>A (n.*2463G>A)
c.4702G>A
c.4757G>A (p.Arg1586Lys)
c.4982G>A (p.Arg1661Lys)
c.4754G>A (p.Arg1585Lys)
c.4898G>A (p.Arg1633Lys)
c.3944G>A (p.Arg1315Lys)
c.4901G>A (p.Arg1634Lys)
c.4895G>A (p.Arg1632Lys)
c.4856G>A (p.Arg1619Lys)
c.4772G>A (p.Arg1591Lys)
c.4964G>A (p.Arg1655Lys)
c.4877G>A (p.Arg1626Lys)
c.4883G>A (p.Arg1628Lys)
c.4814G>A (p.Arg1605Lys)
c.5054G>A (p.Arg1685Lys)
c.5051G>A (p.Arg1684Lys)
c.4973G>A (p.Arg1658Lys)
c.4970G>A (p.Arg1657Lys)
c.4928G>A (p.Arg1643Lys)
c.4925G>A (p.Arg1642Lys)
c.4841G>A (p.Arg1614Lys)
 gnomAD v4
2g.229787522T>ACA350892187TRIP12c.4801A>T (p.Arg1601Ter)
c.4810A>T (p.Arg1604Ter)
c.4978A>T (p.Arg1660Ter)
c.4837A>T (p.Arg1613Ter)
c.*3142A>T (n.*3142A>T)
c.4852A>T (p.Arg1618Ter)
c.4966A>T (p.Arg1656Ter)
c.632A>T
c.*2462A>T (n.*2462A>T)
c.4701A>T
c.4756A>T (p.Arg1586Ter)
c.4981A>T (p.Arg1661Ter)
c.4753A>T (p.Arg1585Ter)
c.4897A>T (p.Arg1633Ter)
c.3943A>T (p.Arg1315Ter)
c.4900A>T (p.Arg1634Ter)
c.4894A>T (p.Arg1632Ter)
c.4855A>T (p.Arg1619Ter)
c.4771A>T (p.Arg1591Ter)
c.4963A>T (p.Arg1655Ter)
c.4876A>T (p.Arg1626Ter)
c.4882A>T (p.Arg1628Ter)
c.4813A>T (p.Arg1605Ter)
c.5053A>T (p.Arg1685Ter)
c.5050A>T (p.Arg1684Ter)
c.4972A>T (p.Arg1658Ter)
c.4969A>T (p.Arg1657Ter)
c.4927A>T (p.Arg1643Ter)
c.4924A>T (p.Arg1642Ter)
c.4840A>T (p.Arg1614Ter)
2g.229787522T>CCA350892188TRIP12c.4801A>G (p.Arg1601Gly)
c.4810A>G (p.Arg1604Gly)
c.4978A>G (p.Arg1660Gly)
c.4837A>G (p.Arg1613Gly)
c.*3142A>G (n.*3142A>G)
c.4852A>G (p.Arg1618Gly)
c.4966A>G (p.Arg1656Gly)
c.632A>G
c.*2462A>G (n.*2462A>G)
c.4701A>G
c.4756A>G (p.Arg1586Gly)
c.4981A>G (p.Arg1661Gly)
c.4753A>G (p.Arg1585Gly)
c.4897A>G (p.Arg1633Gly)
c.3943A>G (p.Arg1315Gly)
c.4900A>G (p.Arg1634Gly)
c.4894A>G (p.Arg1632Gly)
c.4855A>G (p.Arg1619Gly)
c.4771A>G (p.Arg1591Gly)
c.4963A>G (p.Arg1655Gly)
c.4876A>G (p.Arg1626Gly)
c.4882A>G (p.Arg1628Gly)
c.4813A>G (p.Arg1605Gly)
c.5053A>G (p.Arg1685Gly)
c.5050A>G (p.Arg1684Gly)
c.4972A>G (p.Arg1658Gly)
c.4969A>G (p.Arg1657Gly)
c.4927A>G (p.Arg1643Gly)
c.4924A>G (p.Arg1642Gly)
c.4840A>G (p.Arg1614Gly)
2g.229787522T>GCA431534990TRIP12c.4801A>C (p.Arg1601=)
c.4810A>C (p.Arg1604=)
c.4978A>C (p.Arg1660=)
c.4837A>C (p.Arg1613=)
c.*3142A>C (n.*3142A>C)
c.4852A>C (p.Arg1618=)
c.4966A>C (p.Arg1656=)
c.632A>C
c.*2462A>C (n.*2462A>C)
c.4701A>C
c.4756A>C (p.Arg1586=)
c.4981A>C (p.Arg1661=)
c.4753A>C (p.Arg1585=)
c.4897A>C (p.Arg1633=)
c.3943A>C (p.Arg1315=)
c.4900A>C (p.Arg1634=)
c.4894A>C (p.Arg1632=)
c.4855A>C (p.Arg1619=)
c.4771A>C (p.Arg1591=)
c.4963A>C (p.Arg1655=)
c.4876A>C (p.Arg1626=)
c.4882A>C (p.Arg1628=)
c.4813A>C (p.Arg1605=)
c.5053A>C (p.Arg1685=)
c.5050A>C (p.Arg1684=)
c.4972A>C (p.Arg1658=)
c.4969A>C (p.Arg1657=)
c.4927A>C (p.Arg1643=)
c.4924A>C (p.Arg1642=)
c.4840A>C (p.Arg1614=)
2g.229787523A=CA1334026961TRIP12c.4800T= (p.Pro1600=)
c.4809T= (p.Pro1603=)
c.4977T= (p.Pro1659=)
c.4836T= (p.Pro1612=)
c.*3141T= (n.*3141T=)
c.4851T= (p.Pro1617=)
c.4965T= (p.Pro1655=)
c.631T=
c.*2461T= (n.*2461T=)
c.4700T=
c.4755T= (p.Pro1585=)
c.4980T= (p.Pro1660=)
c.4752T= (p.Pro1584=)
c.4896T= (p.Pro1632=)
c.3942T= (p.Pro1314=)
c.4899T= (p.Pro1633=)
c.4893T= (p.Pro1631=)
c.4854T= (p.Pro1618=)
c.4770T= (p.Pro1590=)
c.4962T= (p.Pro1654=)
c.4875T= (p.Pro1625=)
c.4881T= (p.Pro1627=)
c.4812T= (p.Pro1604=)
c.5052T= (p.Pro1684=)
c.5049T= (p.Pro1683=)
c.4971T= (p.Pro1657=)
c.4968T= (p.Pro1656=)
c.4926T= (p.Pro1642=)
c.4923T= (p.Pro1641=)
c.4839T= (p.Pro1613=)
2g.229787523A>CCA431534991TRIP12c.4800T>G (p.Pro1600=)
c.4809T>G (p.Pro1603=)
c.4977T>G (p.Pro1659=)
c.4836T>G (p.Pro1612=)
c.*3141T>G (n.*3141T>G)
c.4851T>G (p.Pro1617=)
c.4965T>G (p.Pro1655=)
c.631T>G
c.*2461T>G (n.*2461T>G)
c.4700T>G
c.4755T>G (p.Pro1585=)
c.4980T>G (p.Pro1660=)
c.4752T>G (p.Pro1584=)
c.4896T>G (p.Pro1632=)
c.3942T>G (p.Pro1314=)
c.4899T>G (p.Pro1633=)
c.4893T>G (p.Pro1631=)
c.4854T>G (p.Pro1618=)
c.4770T>G (p.Pro1590=)
c.4962T>G (p.Pro1654=)
c.4875T>G (p.Pro1625=)
c.4881T>G (p.Pro1627=)
c.4812T>G (p.Pro1604=)
c.5052T>G (p.Pro1684=)
c.5049T>G (p.Pro1683=)
c.4971T>G (p.Pro1657=)
c.4968T>G (p.Pro1656=)
c.4926T>G (p.Pro1642=)
c.4923T>G (p.Pro1641=)
c.4839T>G (p.Pro1613=)
2g.229787523A>GCA431534993TRIP12c.4800T>C (p.Pro1600=)
c.4809T>C (p.Pro1603=)
c.4977T>C (p.Pro1659=)
c.4836T>C (p.Pro1612=)
c.*3141T>C (n.*3141T>C)
c.4851T>C (p.Pro1617=)
c.4965T>C (p.Pro1655=)
c.631T>C
c.*2461T>C (n.*2461T>C)
c.4700T>C
c.4755T>C (p.Pro1585=)
c.4980T>C (p.Pro1660=)
c.4752T>C (p.Pro1584=)
c.4896T>C (p.Pro1632=)
c.3942T>C (p.Pro1314=)
c.4899T>C (p.Pro1633=)
c.4893T>C (p.Pro1631=)
c.4854T>C (p.Pro1618=)
c.4770T>C (p.Pro1590=)
c.4962T>C (p.Pro1654=)
c.4875T>C (p.Pro1625=)
c.4881T>C (p.Pro1627=)
c.4812T>C (p.Pro1604=)
c.5052T>C (p.Pro1684=)
c.5049T>C (p.Pro1683=)
c.4971T>C (p.Pro1657=)
c.4968T>C (p.Pro1656=)
c.4926T>C (p.Pro1642=)
c.4923T>C (p.Pro1641=)
c.4839T>C (p.Pro1613=)
 dbSNP gnomAD v2 gnomAD v4
2g.229787523A>TCA431534992TRIP12c.4800T>A (p.Pro1600=)
c.4809T>A (p.Pro1603=)
c.4977T>A (p.Pro1659=)
c.4836T>A (p.Pro1612=)
c.*3141T>A (n.*3141T>A)
c.4851T>A (p.Pro1617=)
c.4965T>A (p.Pro1655=)
c.631T>A
c.*2461T>A (n.*2461T>A)
c.4700T>A
c.4755T>A (p.Pro1585=)
c.4980T>A (p.Pro1660=)
c.4752T>A (p.Pro1584=)
c.4896T>A (p.Pro1632=)
c.3942T>A (p.Pro1314=)
c.4899T>A (p.Pro1633=)
c.4893T>A (p.Pro1631=)
c.4854T>A (p.Pro1618=)
c.4770T>A (p.Pro1590=)
c.4962T>A (p.Pro1654=)
c.4875T>A (p.Pro1625=)
c.4881T>A (p.Pro1627=)
c.4812T>A (p.Pro1604=)
c.5052T>A (p.Pro1684=)
c.5049T>A (p.Pro1683=)
c.4971T>A (p.Pro1657=)
c.4968T>A (p.Pro1656=)
c.4926T>A (p.Pro1642=)
c.4923T>A (p.Pro1641=)
c.4839T>A (p.Pro1613=)
2g.229787524G>ACA350892201TRIP12c.4799C>T (p.Pro1600Leu)
c.4808C>T (p.Pro1603Leu)
c.4976C>T (p.Pro1659Leu)
c.4835C>T (p.Pro1612Leu)
c.*3140C>T (n.*3140C>T)
c.4850C>T (p.Pro1617Leu)
c.4964C>T (p.Pro1655Leu)
c.630C>T
c.*2460C>T (n.*2460C>T)
c.4699C>T
c.4754C>T (p.Pro1585Leu)
c.4979C>T (p.Pro1660Leu)
c.4751C>T (p.Pro1584Leu)
c.4895C>T (p.Pro1632Leu)
c.3941C>T (p.Pro1314Leu)
c.4898C>T (p.Pro1633Leu)
c.4892C>T (p.Pro1631Leu)
c.4853C>T (p.Pro1618Leu)
c.4769C>T (p.Pro1590Leu)
c.4961C>T (p.Pro1654Leu)
c.4874C>T (p.Pro1625Leu)
c.4880C>T (p.Pro1627Leu)
c.4811C>T (p.Pro1604Leu)
c.5051C>T (p.Pro1684Leu)
c.5048C>T (p.Pro1683Leu)
c.4970C>T (p.Pro1657Leu)
c.4967C>T (p.Pro1656Leu)
c.4925C>T (p.Pro1642Leu)
c.4922C>T (p.Pro1641Leu)
c.4838C>T (p.Pro1613Leu)
2g.229787524G>CCA350892190TRIP12c.4799C>G (p.Pro1600Arg)
c.4808C>G (p.Pro1603Arg)
c.4976C>G (p.Pro1659Arg)
c.4835C>G (p.Pro1612Arg)
c.*3140C>G (n.*3140C>G)
c.4850C>G (p.Pro1617Arg)
c.4964C>G (p.Pro1655Arg)
c.630C>G
c.*2460C>G (n.*2460C>G)
c.4699C>G
c.4754C>G (p.Pro1585Arg)
c.4979C>G (p.Pro1660Arg)
c.4751C>G (p.Pro1584Arg)
c.4895C>G (p.Pro1632Arg)
c.3941C>G (p.Pro1314Arg)
c.4898C>G (p.Pro1633Arg)
c.4892C>G (p.Pro1631Arg)
c.4853C>G (p.Pro1618Arg)
c.4769C>G (p.Pro1590Arg)
c.4961C>G (p.Pro1654Arg)
c.4874C>G (p.Pro1625Arg)
c.4880C>G (p.Pro1627Arg)
c.4811C>G (p.Pro1604Arg)
c.5051C>G (p.Pro1684Arg)
c.5048C>G (p.Pro1683Arg)
c.4970C>G (p.Pro1657Arg)
c.4967C>G (p.Pro1656Arg)
c.4925C>G (p.Pro1642Arg)
c.4922C>G (p.Pro1641Arg)
c.4838C>G (p.Pro1613Arg)
 gnomAD v4
2g.229787524G>TCA350892196TRIP12c.4799C>A (p.Pro1600His)
c.4808C>A (p.Pro1603His)
c.4976C>A (p.Pro1659His)
c.4835C>A (p.Pro1612His)
c.*3140C>A (n.*3140C>A)
c.4850C>A (p.Pro1617His)
c.4964C>A (p.Pro1655His)
c.630C>A
c.*2460C>A (n.*2460C>A)
c.4699C>A
c.4754C>A (p.Pro1585His)
c.4979C>A (p.Pro1660His)
c.4751C>A (p.Pro1584His)
c.4895C>A (p.Pro1632His)
c.3941C>A (p.Pro1314His)
c.4898C>A (p.Pro1633His)
c.4892C>A (p.Pro1631His)
c.4853C>A (p.Pro1618His)
c.4769C>A (p.Pro1590His)
c.4961C>A (p.Pro1654His)
c.4874C>A (p.Pro1625His)
c.4880C>A (p.Pro1627His)
c.4811C>A (p.Pro1604His)
c.5051C>A (p.Pro1684His)
c.5048C>A (p.Pro1683His)
c.4970C>A (p.Pro1657His)
c.4967C>A (p.Pro1656His)
c.4925C>A (p.Pro1642His)
c.4922C>A (p.Pro1641His)
c.4838C>A (p.Pro1613His)
2g.229787525G>ACA350892203TRIP12c.4798C>T (p.Pro1600Ser)
c.4807C>T (p.Pro1603Ser)
c.4975C>T (p.Pro1659Ser)
c.4834C>T (p.Pro1612Ser)
c.*3139C>T (n.*3139C>T)
c.4849C>T (p.Pro1617Ser)
c.4963C>T (p.Pro1655Ser)
c.629C>T
c.*2459C>T (n.*2459C>T)
c.4698C>T
c.4753C>T (p.Pro1585Ser)
c.4978C>T (p.Pro1660Ser)
c.4750C>T (p.Pro1584Ser)
c.4894C>T (p.Pro1632Ser)
c.3940C>T (p.Pro1314Ser)
c.4897C>T (p.Pro1633Ser)
c.4891C>T (p.Pro1631Ser)
c.4852C>T (p.Pro1618Ser)
c.4768C>T (p.Pro1590Ser)
c.4960C>T (p.Pro1654Ser)
c.4873C>T (p.Pro1625Ser)
c.4879C>T (p.Pro1627Ser)
c.4810C>T (p.Pro1604Ser)
c.5050C>T (p.Pro1684Ser)
c.5047C>T (p.Pro1683Ser)
c.4969C>T (p.Pro1657Ser)
c.4966C>T (p.Pro1656Ser)
c.4924C>T (p.Pro1642Ser)
c.4921C>T (p.Pro1641Ser)
c.4837C>T (p.Pro1613Ser)
2g.229787525G>CCA350892207TRIP12c.4798C>G (p.Pro1600Ala)
c.4807C>G (p.Pro1603Ala)
c.4975C>G (p.Pro1659Ala)
c.4834C>G (p.Pro1612Ala)
c.*3139C>G (n.*3139C>G)
c.4849C>G (p.Pro1617Ala)
c.4963C>G (p.Pro1655Ala)
c.629C>G
c.*2459C>G (n.*2459C>G)
c.4698C>G
c.4753C>G (p.Pro1585Ala)
c.4978C>G (p.Pro1660Ala)
c.4750C>G (p.Pro1584Ala)
c.4894C>G (p.Pro1632Ala)
c.3940C>G (p.Pro1314Ala)
c.4897C>G (p.Pro1633Ala)
c.4891C>G (p.Pro1631Ala)
c.4852C>G (p.Pro1618Ala)
c.4768C>G (p.Pro1590Ala)
c.4960C>G (p.Pro1654Ala)
c.4873C>G (p.Pro1625Ala)
c.4879C>G (p.Pro1627Ala)
c.4810C>G (p.Pro1604Ala)
c.5050C>G (p.Pro1684Ala)
c.5047C>G (p.Pro1683Ala)
c.4969C>G (p.Pro1657Ala)
c.4966C>G (p.Pro1656Ala)
c.4924C>G (p.Pro1642Ala)
c.4921C>G (p.Pro1641Ala)
c.4837C>G (p.Pro1613Ala)
2g.229787525G>TCA350892209TRIP12c.4798C>A (p.Pro1600Thr)
c.4807C>A (p.Pro1603Thr)
c.4975C>A (p.Pro1659Thr)
c.4834C>A (p.Pro1612Thr)
c.*3139C>A (n.*3139C>A)
c.4849C>A (p.Pro1617Thr)
c.4963C>A (p.Pro1655Thr)
c.629C>A
c.*2459C>A (n.*2459C>A)
c.4698C>A
c.4753C>A (p.Pro1585Thr)
c.4978C>A (p.Pro1660Thr)
c.4750C>A (p.Pro1584Thr)
c.4894C>A (p.Pro1632Thr)
c.3940C>A (p.Pro1314Thr)
c.4897C>A (p.Pro1633Thr)
c.4891C>A (p.Pro1631Thr)
c.4852C>A (p.Pro1618Thr)
c.4768C>A (p.Pro1590Thr)
c.4960C>A (p.Pro1654Thr)
c.4873C>A (p.Pro1625Thr)
c.4879C>A (p.Pro1627Thr)
c.4810C>A (p.Pro1604Thr)
c.5050C>A (p.Pro1684Thr)
c.5047C>A (p.Pro1683Thr)
c.4969C>A (p.Pro1657Thr)
c.4966C>A (p.Pro1656Thr)
c.4924C>A (p.Pro1642Thr)
c.4921C>A (p.Pro1641Thr)
c.4837C>A (p.Pro1613Thr)
2g.229787526T>ACA431534994TRIP12c.4797A>T (p.Ala1599=)
c.4806A>T (p.Ala1602=)
c.4974A>T (p.Ala1658=)
c.4833A>T (p.Ala1611=)
c.*3138A>T (n.*3138A>T)
c.4848A>T (p.Ala1616=)
c.4962A>T (p.Ala1654=)
c.628A>T
c.*2458A>T (n.*2458A>T)
c.4697A>T
c.4752A>T (p.Ala1584=)
c.4977A>T (p.Ala1659=)
c.4749A>T (p.Ala1583=)
c.4893A>T (p.Ala1631=)
c.3939A>T (p.Ala1313=)
c.4896A>T (p.Ala1632=)
c.4890A>T (p.Ala1630=)
c.4851A>T (p.Ala1617=)
c.4767A>T (p.Ala1589=)
c.4959A>T (p.Ala1653=)
c.4872A>T (p.Ala1624=)
c.4878A>T (p.Ala1626=)
c.4809A>T (p.Ala1603=)
c.5049A>T (p.Ala1683=)
c.5046A>T (p.Ala1682=)
c.4968A>T (p.Ala1656=)
c.4965A>T (p.Ala1655=)
c.4923A>T (p.Ala1641=)
c.4920A>T (p.Ala1640=)
c.4836A>T (p.Ala1612=)
2g.229787526T>CCA431534995TRIP12c.4797A>G (p.Ala1599=)
c.4806A>G (p.Ala1602=)
c.4974A>G (p.Ala1658=)
c.4833A>G (p.Ala1611=)
c.*3138A>G (n.*3138A>G)
c.4848A>G (p.Ala1616=)
c.4962A>G (p.Ala1654=)
c.628A>G
c.*2458A>G (n.*2458A>G)
c.4697A>G
c.4752A>G (p.Ala1584=)
c.4977A>G (p.Ala1659=)
c.4749A>G (p.Ala1583=)
c.4893A>G (p.Ala1631=)
c.3939A>G (p.Ala1313=)
c.4896A>G (p.Ala1632=)
c.4890A>G (p.Ala1630=)
c.4851A>G (p.Ala1617=)
c.4767A>G (p.Ala1589=)
c.4959A>G (p.Ala1653=)
c.4872A>G (p.Ala1624=)
c.4878A>G (p.Ala1626=)
c.4809A>G (p.Ala1603=)
c.5049A>G (p.Ala1683=)
c.5046A>G (p.Ala1682=)
c.4968A>G (p.Ala1656=)
c.4965A>G (p.Ala1655=)
c.4923A>G (p.Ala1641=)
c.4920A>G (p.Ala1640=)
c.4836A>G (p.Ala1612=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.229787526T>GCA431534996TRIP12c.4797A>C (p.Ala1599=)
c.4806A>C (p.Ala1602=)
c.4974A>C (p.Ala1658=)
c.4833A>C (p.Ala1611=)
c.*3138A>C (n.*3138A>C)
c.4848A>C (p.Ala1616=)
c.4962A>C (p.Ala1654=)
c.628A>C
c.*2458A>C (n.*2458A>C)
c.4697A>C
c.4752A>C (p.Ala1584=)
c.4977A>C (p.Ala1659=)
c.4749A>C (p.Ala1583=)
c.4893A>C (p.Ala1631=)
c.3939A>C (p.Ala1313=)
c.4896A>C (p.Ala1632=)
c.4890A>C (p.Ala1630=)
c.4851A>C (p.Ala1617=)
c.4767A>C (p.Ala1589=)
c.4959A>C (p.Ala1653=)
c.4872A>C (p.Ala1624=)
c.4878A>C (p.Ala1626=)
c.4809A>C (p.Ala1603=)
c.5049A>C (p.Ala1683=)
c.5046A>C (p.Ala1682=)
c.4968A>C (p.Ala1656=)
c.4965A>C (p.Ala1655=)
c.4923A>C (p.Ala1641=)
c.4920A>C (p.Ala1640=)
c.4836A>C (p.Ala1612=)
2g.229787526T=CA1334026962TRIP12c.4797A= (p.Ala1599=)
c.4806A= (p.Ala1602=)
c.4974A= (p.Ala1658=)
c.4833A= (p.Ala1611=)
c.*3138A= (n.*3138A=)
c.4848A= (p.Ala1616=)
c.4962A= (p.Ala1654=)
c.628A=
c.*2458A= (n.*2458A=)
c.4697A=
c.4752A= (p.Ala1584=)
c.4977A= (p.Ala1659=)
c.4749A= (p.Ala1583=)
c.4893A= (p.Ala1631=)
c.3939A= (p.Ala1313=)
c.4896A= (p.Ala1632=)
c.4890A= (p.Ala1630=)
c.4851A= (p.Ala1617=)
c.4767A= (p.Ala1589=)
c.4959A= (p.Ala1653=)
c.4872A= (p.Ala1624=)
c.4878A= (p.Ala1626=)
c.4809A= (p.Ala1603=)
c.5049A= (p.Ala1683=)
c.5046A= (p.Ala1682=)
c.4968A= (p.Ala1656=)
c.4965A= (p.Ala1655=)
c.4923A= (p.Ala1641=)
c.4920A= (p.Ala1640=)
c.4836A= (p.Ala1612=)
2g.229787527G>ACA350892211TRIP12c.4796C>T (p.Ala1599Val)
c.4805C>T (p.Ala1602Val)
c.4973C>T (p.Ala1658Val)
c.4832C>T (p.Ala1611Val)
c.*3137C>T (n.*3137C>T)
c.4847C>T (p.Ala1616Val)
c.4961C>T (p.Ala1654Val)
c.627C>T
c.*2457C>T (n.*2457C>T)
c.4696C>T
c.4751C>T (p.Ala1584Val)
c.4976C>T (p.Ala1659Val)
c.4748C>T (p.Ala1583Val)
c.4892C>T (p.Ala1631Val)
c.3938C>T (p.Ala1313Val)
c.4895C>T (p.Ala1632Val)
c.4889C>T (p.Ala1630Val)
c.4850C>T (p.Ala1617Val)
c.4766C>T (p.Ala1589Val)
c.4958C>T (p.Ala1653Val)
c.4871C>T (p.Ala1624Val)
c.4877C>T (p.Ala1626Val)
c.4808C>T (p.Ala1603Val)
c.5048C>T (p.Ala1683Val)
c.5045C>T (p.Ala1682Val)
c.4967C>T (p.Ala1656Val)
c.4964C>T (p.Ala1655Val)
c.4922C>T (p.Ala1641Val)
c.4919C>T (p.Ala1640Val)
c.4835C>T (p.Ala1612Val)
2g.229787527G>CCA350892212TRIP12c.4796C>G (p.Ala1599Gly)
c.4805C>G (p.Ala1602Gly)
c.4973C>G (p.Ala1658Gly)
c.4832C>G (p.Ala1611Gly)
c.*3137C>G (n.*3137C>G)
c.4847C>G (p.Ala1616Gly)
c.4961C>G (p.Ala1654Gly)
c.627C>G
c.*2457C>G (n.*2457C>G)
c.4696C>G
c.4751C>G (p.Ala1584Gly)
c.4976C>G (p.Ala1659Gly)
c.4748C>G (p.Ala1583Gly)
c.4892C>G (p.Ala1631Gly)
c.3938C>G (p.Ala1313Gly)
c.4895C>G (p.Ala1632Gly)
c.4889C>G (p.Ala1630Gly)
c.4850C>G (p.Ala1617Gly)
c.4766C>G (p.Ala1589Gly)
c.4958C>G (p.Ala1653Gly)
c.4871C>G (p.Ala1624Gly)
c.4877C>G (p.Ala1626Gly)
c.4808C>G (p.Ala1603Gly)
c.5048C>G (p.Ala1683Gly)
c.5045C>G (p.Ala1682Gly)
c.4967C>G (p.Ala1656Gly)
c.4964C>G (p.Ala1655Gly)
c.4922C>G (p.Ala1641Gly)
c.4919C>G (p.Ala1640Gly)
c.4835C>G (p.Ala1612Gly)
2g.229787527G>TCA350892215TRIP12c.4796C>A (p.Ala1599Glu)
c.4805C>A (p.Ala1602Glu)
c.4973C>A (p.Ala1658Glu)
c.4832C>A (p.Ala1611Glu)
c.*3137C>A (n.*3137C>A)
c.4847C>A (p.Ala1616Glu)
c.4961C>A (p.Ala1654Glu)
c.627C>A
c.*2457C>A (n.*2457C>A)
c.4696C>A
c.4751C>A (p.Ala1584Glu)
c.4976C>A (p.Ala1659Glu)
c.4748C>A (p.Ala1583Glu)
c.4892C>A (p.Ala1631Glu)
c.3938C>A (p.Ala1313Glu)
c.4895C>A (p.Ala1632Glu)
c.4889C>A (p.Ala1630Glu)
c.4850C>A (p.Ala1617Glu)
c.4766C>A (p.Ala1589Glu)
c.4958C>A (p.Ala1653Glu)
c.4871C>A (p.Ala1624Glu)
c.4877C>A (p.Ala1626Glu)
c.4808C>A (p.Ala1603Glu)
c.5048C>A (p.Ala1683Glu)
c.5045C>A (p.Ala1682Glu)
c.4967C>A (p.Ala1656Glu)
c.4964C>A (p.Ala1655Glu)
c.4922C>A (p.Ala1641Glu)
c.4919C>A (p.Ala1640Glu)
c.4835C>A (p.Ala1612Glu)
2g.229787528C>ACA350892217TRIP12c.4795G>T (p.Ala1599Ser)
c.4804G>T (p.Ala1602Ser)
c.4972G>T (p.Ala1658Ser)
c.4831G>T (p.Ala1611Ser)
c.*3136G>T (n.*3136G>T)
c.4846G>T (p.Ala1616Ser)
c.4960G>T (p.Ala1654Ser)
c.626G>T
c.*2456G>T (n.*2456G>T)
c.4695G>T
c.4750G>T (p.Ala1584Ser)
c.4975G>T (p.Ala1659Ser)
c.4747G>T (p.Ala1583Ser)
c.4891G>T (p.Ala1631Ser)
c.3937G>T (p.Ala1313Ser)
c.4894G>T (p.Ala1632Ser)
c.4888G>T (p.Ala1630Ser)
c.4849G>T (p.Ala1617Ser)
c.4765G>T (p.Ala1589Ser)
c.4957G>T (p.Ala1653Ser)
c.4870G>T (p.Ala1624Ser)
c.4876G>T (p.Ala1626Ser)
c.4807G>T (p.Ala1603Ser)
c.5047G>T (p.Ala1683Ser)
c.5044G>T (p.Ala1682Ser)
c.4966G>T (p.Ala1656Ser)
c.4963G>T (p.Ala1655Ser)
c.4921G>T (p.Ala1641Ser)
c.4918G>T (p.Ala1640Ser)
c.4834G>T (p.Ala1612Ser)
 COSMIC
2g.229787528C=CA1334026963TRIP12c.4795G= (p.Ala1599=)
c.4804G= (p.Ala1602=)
c.4972G= (p.Ala1658=)
c.4831G= (p.Ala1611=)
c.*3136G= (n.*3136G=)
c.4846G= (p.Ala1616=)
c.4960G= (p.Ala1654=)
c.626G=
c.*2456G= (n.*2456G=)
c.4695G=
c.4750G= (p.Ala1584=)
c.4975G= (p.Ala1659=)
c.4747G= (p.Ala1583=)
c.4891G= (p.Ala1631=)
c.3937G= (p.Ala1313=)
c.4894G= (p.Ala1632=)
c.4888G= (p.Ala1630=)
c.4849G= (p.Ala1617=)
c.4765G= (p.Ala1589=)
c.4957G= (p.Ala1653=)
c.4870G= (p.Ala1624=)
c.4876G= (p.Ala1626=)
c.4807G= (p.Ala1603=)
c.5047G= (p.Ala1683=)
c.5044G= (p.Ala1682=)
c.4966G= (p.Ala1656=)
c.4963G= (p.Ala1655=)
c.4921G= (p.Ala1641=)
c.4918G= (p.Ala1640=)
c.4834G= (p.Ala1612=)
2g.229787528C>GCA350892220TRIP12c.4795G>C (p.Ala1599Pro)
c.4804G>C (p.Ala1602Pro)
c.4972G>C (p.Ala1658Pro)
c.4831G>C (p.Ala1611Pro)
c.*3136G>C (n.*3136G>C)
c.4846G>C (p.Ala1616Pro)
c.4960G>C (p.Ala1654Pro)
c.626G>C
c.*2456G>C (n.*2456G>C)
c.4695G>C
c.4750G>C (p.Ala1584Pro)
c.4975G>C (p.Ala1659Pro)
c.4747G>C (p.Ala1583Pro)
c.4891G>C (p.Ala1631Pro)
c.3937G>C (p.Ala1313Pro)
c.4894G>C (p.Ala1632Pro)
c.4888G>C (p.Ala1630Pro)
c.4849G>C (p.Ala1617Pro)
c.4765G>C (p.Ala1589Pro)
c.4957G>C (p.Ala1653Pro)
c.4870G>C (p.Ala1624Pro)
c.4876G>C (p.Ala1626Pro)
c.4807G>C (p.Ala1603Pro)
c.5047G>C (p.Ala1683Pro)
c.5044G>C (p.Ala1682Pro)
c.4966G>C (p.Ala1656Pro)
c.4963G>C (p.Ala1655Pro)
c.4921G>C (p.Ala1641Pro)
c.4918G>C (p.Ala1640Pro)
c.4834G>C (p.Ala1612Pro)
2g.229787528C>TCA2152430TRIP12c.4795G>A (p.Ala1599Thr)
c.4804G>A (p.Ala1602Thr)
c.4972G>A (p.Ala1658Thr)
c.4831G>A (p.Ala1611Thr)
c.*3136G>A (n.*3136G>A)
c.4846G>A (p.Ala1616Thr)
c.4960G>A (p.Ala1654Thr)
c.626G>A
c.*2456G>A (n.*2456G>A)
c.4695G>A
c.4750G>A (p.Ala1584Thr)
c.4975G>A (p.Ala1659Thr)
c.4747G>A (p.Ala1583Thr)
c.4891G>A (p.Ala1631Thr)
c.3937G>A (p.Ala1313Thr)
c.4894G>A (p.Ala1632Thr)
c.4888G>A (p.Ala1630Thr)
c.4849G>A (p.Ala1617Thr)
c.4765G>A (p.Ala1589Thr)
c.4957G>A (p.Ala1653Thr)
c.4870G>A (p.Ala1624Thr)
c.4876G>A (p.Ala1626Thr)
c.4807G>A (p.Ala1603Thr)
c.5047G>A (p.Ala1683Thr)
c.5044G>A (p.Ala1682Thr)
c.4966G>A (p.Ala1656Thr)
c.4963G>A (p.Ala1655Thr)
c.4921G>A (p.Ala1641Thr)
c.4918G>A (p.Ala1640Thr)
c.4834G>A (p.Ala1612Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.229787529A>CCA431534997TRIP12c.4794T>G (p.Val1598=)
c.4803T>G (p.Val1601=)
c.4971T>G (p.Val1657=)
c.4830T>G (p.Val1610=)
c.*3135T>G (n.*3135T>G)
c.4845T>G (p.Val1615=)
c.4959T>G (p.Val1653=)
c.625T>G
c.*2455T>G (n.*2455T>G)
c.4694T>G
c.4749T>G (p.Val1583=)
c.4974T>G (p.Val1658=)
c.4746T>G (p.Val1582=)
c.4890T>G (p.Val1630=)
c.3936T>G (p.Val1312=)
c.4893T>G (p.Val1631=)
c.4887T>G (p.Val1629=)
c.4848T>G (p.Val1616=)
c.4764T>G (p.Val1588=)
c.4956T>G (p.Val1652=)
c.4869T>G (p.Val1623=)
c.4875T>G (p.Val1625=)
c.4806T>G (p.Val1602=)
c.5046T>G (p.Val1682=)
c.5043T>G (p.Val1681=)
c.4965T>G (p.Val1655=)
c.4962T>G (p.Val1654=)
c.4920T>G (p.Val1640=)
c.4917T>G (p.Val1639=)
c.4833T>G (p.Val1611=)
2g.229787529A>GCA431534998TRIP12c.4794T>C (p.Val1598=)
c.4803T>C (p.Val1601=)
c.4971T>C (p.Val1657=)
c.4830T>C (p.Val1610=)
c.*3135T>C (n.*3135T>C)
c.4845T>C (p.Val1615=)
c.4959T>C (p.Val1653=)
c.625T>C
c.*2455T>C (n.*2455T>C)
c.4694T>C
c.4749T>C (p.Val1583=)
c.4974T>C (p.Val1658=)
c.4746T>C (p.Val1582=)
c.4890T>C (p.Val1630=)
c.3936T>C (p.Val1312=)
c.4893T>C (p.Val1631=)
c.4887T>C (p.Val1629=)
c.4848T>C (p.Val1616=)
c.4764T>C (p.Val1588=)
c.4956T>C (p.Val1652=)
c.4869T>C (p.Val1623=)
c.4875T>C (p.Val1625=)
c.4806T>C (p.Val1602=)
c.5046T>C (p.Val1682=)
c.5043T>C (p.Val1681=)
c.4965T>C (p.Val1655=)
c.4962T>C (p.Val1654=)
c.4920T>C (p.Val1640=)
c.4917T>C (p.Val1639=)
c.4833T>C (p.Val1611=)
 dbSNP
2g.229787529A>TCA431534999TRIP12c.4794T>A (p.Val1598=)
c.4803T>A (p.Val1601=)
c.4971T>A (p.Val1657=)
c.4830T>A (p.Val1610=)
c.*3135T>A (n.*3135T>A)
c.4845T>A (p.Val1615=)
c.4959T>A (p.Val1653=)
c.625T>A
c.*2455T>A (n.*2455T>A)
c.4694T>A
c.4749T>A (p.Val1583=)
c.4974T>A (p.Val1658=)
c.4746T>A (p.Val1582=)
c.4890T>A (p.Val1630=)
c.3936T>A (p.Val1312=)
c.4893T>A (p.Val1631=)
c.4887T>A (p.Val1629=)
c.4848T>A (p.Val1616=)
c.4764T>A (p.Val1588=)
c.4956T>A (p.Val1652=)
c.4869T>A (p.Val1623=)
c.4875T>A (p.Val1625=)
c.4806T>A (p.Val1602=)
c.5046T>A (p.Val1682=)
c.5043T>A (p.Val1681=)
c.4965T>A (p.Val1655=)
c.4962T>A (p.Val1654=)
c.4920T>A (p.Val1640=)
c.4917T>A (p.Val1639=)
c.4833T>A (p.Val1611=)
2g.229787530A>CCA350892225TRIP12c.4793T>G (p.Val1598Gly)
c.4802T>G (p.Val1601Gly)
c.4970T>G (p.Val1657Gly)
c.4829T>G (p.Val1610Gly)
c.*3134T>G (n.*3134T>G)
c.4844T>G (p.Val1615Gly)
c.4958T>G (p.Val1653Gly)
c.624T>G
c.*2454T>G (n.*2454T>G)
c.4693T>G
c.4748T>G (p.Val1583Gly)
c.4973T>G (p.Val1658Gly)
c.4745T>G (p.Val1582Gly)
c.4889T>G (p.Val1630Gly)
c.3935T>G (p.Val1312Gly)
c.4892T>G (p.Val1631Gly)
c.4886T>G (p.Val1629Gly)
c.4847T>G (p.Val1616Gly)
c.4763T>G (p.Val1588Gly)
c.4955T>G (p.Val1652Gly)
c.4868T>G (p.Val1623Gly)
c.4874T>G (p.Val1625Gly)
c.4805T>G (p.Val1602Gly)
c.5045T>G (p.Val1682Gly)
c.5042T>G (p.Val1681Gly)
c.4964T>G (p.Val1655Gly)
c.4961T>G (p.Val1654Gly)
c.4919T>G (p.Val1640Gly)
c.4916T>G (p.Val1639Gly)
c.4832T>G (p.Val1611Gly)
2g.229787530A>GCA350892230TRIP12c.4793T>C (p.Val1598Ala)
c.4802T>C (p.Val1601Ala)
c.4970T>C (p.Val1657Ala)
c.4829T>C (p.Val1610Ala)
c.*3134T>C (n.*3134T>C)
c.4844T>C (p.Val1615Ala)
c.4958T>C (p.Val1653Ala)
c.624T>C
c.*2454T>C (n.*2454T>C)
c.4693T>C
c.4748T>C (p.Val1583Ala)
c.4973T>C (p.Val1658Ala)
c.4745T>C (p.Val1582Ala)
c.4889T>C (p.Val1630Ala)
c.3935T>C (p.Val1312Ala)
c.4892T>C (p.Val1631Ala)
c.4886T>C (p.Val1629Ala)
c.4847T>C (p.Val1616Ala)
c.4763T>C (p.Val1588Ala)
c.4955T>C (p.Val1652Ala)
c.4868T>C (p.Val1623Ala)
c.4874T>C (p.Val1625Ala)
c.4805T>C (p.Val1602Ala)
c.5045T>C (p.Val1682Ala)
c.5042T>C (p.Val1681Ala)
c.4964T>C (p.Val1655Ala)
c.4961T>C (p.Val1654Ala)
c.4919T>C (p.Val1640Ala)
c.4916T>C (p.Val1639Ala)
c.4832T>C (p.Val1611Ala)
2g.229787530A>TCA350892233TRIP12c.4793T>A (p.Val1598Asp)
c.4802T>A (p.Val1601Asp)
c.4970T>A (p.Val1657Asp)
c.4829T>A (p.Val1610Asp)
c.*3134T>A (n.*3134T>A)
c.4844T>A (p.Val1615Asp)
c.4958T>A (p.Val1653Asp)
c.624T>A
c.*2454T>A (n.*2454T>A)
c.4693T>A
c.4748T>A (p.Val1583Asp)
c.4973T>A (p.Val1658Asp)
c.4745T>A (p.Val1582Asp)
c.4889T>A (p.Val1630Asp)
c.3935T>A (p.Val1312Asp)
c.4892T>A (p.Val1631Asp)
c.4886T>A (p.Val1629Asp)
c.4847T>A (p.Val1616Asp)
c.4763T>A (p.Val1588Asp)
c.4955T>A (p.Val1652Asp)
c.4868T>A (p.Val1623Asp)
c.4874T>A (p.Val1625Asp)
c.4805T>A (p.Val1602Asp)
c.5045T>A (p.Val1682Asp)
c.5042T>A (p.Val1681Asp)
c.4964T>A (p.Val1655Asp)
c.4961T>A (p.Val1654Asp)
c.4919T>A (p.Val1640Asp)
c.4916T>A (p.Val1639Asp)
c.4832T>A (p.Val1611Asp)
2g.229787531C>ACA350892242TRIP12c.4792G>T (p.Val1598Phe)
c.4801G>T (p.Val1601Phe)
c.4969G>T (p.Val1657Phe)
c.4828G>T (p.Val1610Phe)
c.*3133G>T (n.*3133G>T)
c.4843G>T (p.Val1615Phe)
c.4957G>T (p.Val1653Phe)
c.623G>T
c.*2453G>T (n.*2453G>T)
c.4692G>T
c.4747G>T (p.Val1583Phe)
c.4972G>T (p.Val1658Phe)
c.4744G>T (p.Val1582Phe)
c.4888G>T (p.Val1630Phe)
c.3934G>T (p.Val1312Phe)
c.4891G>T (p.Val1631Phe)
c.4885G>T (p.Val1629Phe)
c.4846G>T (p.Val1616Phe)
c.4762G>T (p.Val1588Phe)
c.4954G>T (p.Val1652Phe)
c.4867G>T (p.Val1623Phe)
c.4873G>T (p.Val1625Phe)
c.4804G>T (p.Val1602Phe)
c.5044G>T (p.Val1682Phe)
c.5041G>T (p.Val1681Phe)
c.4963G>T (p.Val1655Phe)
c.4960G>T (p.Val1654Phe)
c.4918G>T (p.Val1640Phe)
c.4915G>T (p.Val1639Phe)
c.4831G>T (p.Val1611Phe)
2g.229787531C=CA1334026964TRIP12c.4792G= (p.Val1598=)
c.4801G= (p.Val1601=)
c.4969G= (p.Val1657=)
c.4828G= (p.Val1610=)
c.*3133G= (n.*3133G=)
c.4843G= (p.Val1615=)
c.4957G= (p.Val1653=)
c.623G=
c.*2453G= (n.*2453G=)
c.4692G=
c.4747G= (p.Val1583=)
c.4972G= (p.Val1658=)
c.4744G= (p.Val1582=)
c.4888G= (p.Val1630=)
c.3934G= (p.Val1312=)
c.4891G= (p.Val1631=)
c.4885G= (p.Val1629=)
c.4846G= (p.Val1616=)
c.4762G= (p.Val1588=)
c.4954G= (p.Val1652=)
c.4867G= (p.Val1623=)
c.4873G= (p.Val1625=)
c.4804G= (p.Val1602=)
c.5044G= (p.Val1682=)
c.5041G= (p.Val1681=)
c.4963G= (p.Val1655=)
c.4960G= (p.Val1654=)
c.4918G= (p.Val1640=)
c.4915G= (p.Val1639=)
c.4831G= (p.Val1611=)
2g.229787531C>GCA350892247TRIP12c.4792G>C (p.Val1598Leu)
c.4801G>C (p.Val1601Leu)
c.4969G>C (p.Val1657Leu)
c.4828G>C (p.Val1610Leu)
c.*3133G>C (n.*3133G>C)
c.4843G>C (p.Val1615Leu)
c.4957G>C (p.Val1653Leu)
c.623G>C
c.*2453G>C (n.*2453G>C)
c.4692G>C
c.4747G>C (p.Val1583Leu)
c.4972G>C (p.Val1658Leu)
c.4744G>C (p.Val1582Leu)
c.4888G>C (p.Val1630Leu)
c.3934G>C (p.Val1312Leu)
c.4891G>C (p.Val1631Leu)
c.4885G>C (p.Val1629Leu)
c.4846G>C (p.Val1616Leu)
c.4762G>C (p.Val1588Leu)
c.4954G>C (p.Val1652Leu)
c.4867G>C (p.Val1623Leu)
c.4873G>C (p.Val1625Leu)
c.4804G>C (p.Val1602Leu)
c.5044G>C (p.Val1682Leu)
c.5041G>C (p.Val1681Leu)
c.4963G>C (p.Val1655Leu)
c.4960G>C (p.Val1654Leu)
c.4918G>C (p.Val1640Leu)
c.4915G>C (p.Val1639Leu)
c.4831G>C (p.Val1611Leu)
 dbSNP
2g.229787531C>TCA350892244TRIP12c.4792G>A (p.Val1598Ile)
c.4801G>A (p.Val1601Ile)
c.4969G>A (p.Val1657Ile)
c.4828G>A (p.Val1610Ile)
c.*3133G>A (n.*3133G>A)
c.4843G>A (p.Val1615Ile)
c.4957G>A (p.Val1653Ile)
c.623G>A
c.*2453G>A (n.*2453G>A)
c.4692G>A
c.4747G>A (p.Val1583Ile)
c.4972G>A (p.Val1658Ile)
c.4744G>A (p.Val1582Ile)
c.4888G>A (p.Val1630Ile)
c.3934G>A (p.Val1312Ile)
c.4891G>A (p.Val1631Ile)
c.4885G>A (p.Val1629Ile)
c.4846G>A (p.Val1616Ile)
c.4762G>A (p.Val1588Ile)
c.4954G>A (p.Val1652Ile)
c.4867G>A (p.Val1623Ile)
c.4873G>A (p.Val1625Ile)
c.4804G>A (p.Val1602Ile)
c.5044G>A (p.Val1682Ile)
c.5041G>A (p.Val1681Ile)
c.4963G>A (p.Val1655Ile)
c.4960G>A (p.Val1654Ile)
c.4918G>A (p.Val1640Ile)
c.4915G>A (p.Val1639Ile)
c.4831G>A (p.Val1611Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.229787532T>ACA350892249TRIP12c.4791A>T (p.Arg1597Ser)
c.4800A>T (p.Arg1600Ser)
c.4968A>T (p.Arg1656Ser)
c.4827A>T (p.Arg1609Ser)
c.*3132A>T (n.*3132A>T)
c.4842A>T (p.Arg1614Ser)
c.4956A>T (p.Arg1652Ser)
c.622A>T
c.*2452A>T (n.*2452A>T)
c.4691A>T
c.4746A>T (p.Arg1582Ser)
c.4971A>T (p.Arg1657Ser)
c.4743A>T (p.Arg1581Ser)
c.4887A>T (p.Arg1629Ser)
c.3933A>T (p.Arg1311Ser)
c.4890A>T (p.Arg1630Ser)
c.4884A>T (p.Arg1628Ser)
c.4845A>T (p.Arg1615Ser)
c.4761A>T (p.Arg1587Ser)
c.4953A>T (p.Arg1651Ser)
c.4866A>T (p.Arg1622Ser)
c.4872A>T (p.Arg1624Ser)
c.4803A>T (p.Arg1601Ser)
c.5043A>T (p.Arg1681Ser)
c.5040A>T (p.Arg1680Ser)
c.4962A>T (p.Arg1654Ser)
c.4959A>T (p.Arg1653Ser)
c.4917A>T (p.Arg1639Ser)
c.4914A>T (p.Arg1638Ser)
c.4830A>T (p.Arg1610Ser)
2g.229787532T>CCA431535000TRIP12c.4791A>G (p.Arg1597=)
c.4800A>G (p.Arg1600=)
c.4968A>G (p.Arg1656=)
c.4827A>G (p.Arg1609=)
c.*3132A>G (n.*3132A>G)
c.4842A>G (p.Arg1614=)
c.4956A>G (p.Arg1652=)
c.622A>G
c.*2452A>G (n.*2452A>G)
c.4691A>G
c.4746A>G (p.Arg1582=)
c.4971A>G (p.Arg1657=)
c.4743A>G (p.Arg1581=)
c.4887A>G (p.Arg1629=)
c.3933A>G (p.Arg1311=)
c.4890A>G (p.Arg1630=)
c.4884A>G (p.Arg1628=)
c.4845A>G (p.Arg1615=)
c.4761A>G (p.Arg1587=)
c.4953A>G (p.Arg1651=)
c.4866A>G (p.Arg1622=)
c.4872A>G (p.Arg1624=)
c.4803A>G (p.Arg1601=)
c.5043A>G (p.Arg1681=)
c.5040A>G (p.Arg1680=)
c.4962A>G (p.Arg1654=)
c.4959A>G (p.Arg1653=)
c.4917A>G (p.Arg1639=)
c.4914A>G (p.Arg1638=)
c.4830A>G (p.Arg1610=)
2g.229787532T>GCA350892252TRIP12c.4791A>C (p.Arg1597Ser)
c.4800A>C (p.Arg1600Ser)
c.4968A>C (p.Arg1656Ser)
c.4827A>C (p.Arg1609Ser)
c.*3132A>C (n.*3132A>C)
c.4842A>C (p.Arg1614Ser)
c.4956A>C (p.Arg1652Ser)
c.622A>C
c.*2452A>C (n.*2452A>C)
c.4691A>C
c.4746A>C (p.Arg1582Ser)
c.4971A>C (p.Arg1657Ser)
c.4743A>C (p.Arg1581Ser)
c.4887A>C (p.Arg1629Ser)
c.3933A>C (p.Arg1311Ser)
c.4890A>C (p.Arg1630Ser)
c.4884A>C (p.Arg1628Ser)
c.4845A>C (p.Arg1615Ser)
c.4761A>C (p.Arg1587Ser)
c.4953A>C (p.Arg1651Ser)
c.4866A>C (p.Arg1622Ser)
c.4872A>C (p.Arg1624Ser)
c.4803A>C (p.Arg1601Ser)
c.5043A>C (p.Arg1681Ser)
c.5040A>C (p.Arg1680Ser)
c.4962A>C (p.Arg1654Ser)
c.4959A>C (p.Arg1653Ser)
c.4917A>C (p.Arg1639Ser)
c.4914A>C (p.Arg1638Ser)
c.4830A>C (p.Arg1610Ser)
2g.229787533C>ACA350892254TRIP12c.4790G>T (p.Arg1597Ile)
c.4799G>T (p.Arg1600Ile)
c.4967G>T (p.Arg1656Ile)
c.4826G>T (p.Arg1609Ile)
c.*3131G>T (n.*3131G>T)
c.4841G>T (p.Arg1614Ile)
c.4955G>T (p.Arg1652Ile)
c.621G>T
c.*2451G>T (n.*2451G>T)
c.4690G>T
c.4745G>T (p.Arg1582Ile)
c.4970G>T (p.Arg1657Ile)
c.4742G>T (p.Arg1581Ile)
c.4886G>T (p.Arg1629Ile)
c.3932G>T (p.Arg1311Ile)
c.4889G>T (p.Arg1630Ile)
c.4883G>T (p.Arg1628Ile)
c.4844G>T (p.Arg1615Ile)
c.4760G>T (p.Arg1587Ile)
c.4952G>T (p.Arg1651Ile)
c.4865G>T (p.Arg1622Ile)
c.4871G>T (p.Arg1624Ile)
c.4802G>T (p.Arg1601Ile)
c.5042G>T (p.Arg1681Ile)
c.5039G>T (p.Arg1680Ile)
c.4961G>T (p.Arg1654Ile)
c.4958G>T (p.Arg1653Ile)
c.4916G>T (p.Arg1639Ile)
c.4913G>T (p.Arg1638Ile)
c.4829G>T (p.Arg1610Ile)
2g.229787533C>GCA350892255TRIP12c.4790G>C (p.Arg1597Thr)
c.4799G>C (p.Arg1600Thr)
c.4967G>C (p.Arg1656Thr)
c.4826G>C (p.Arg1609Thr)
c.*3131G>C (n.*3131G>C)
c.4841G>C (p.Arg1614Thr)
c.4955G>C (p.Arg1652Thr)
c.621G>C
c.*2451G>C (n.*2451G>C)
c.4690G>C
c.4745G>C (p.Arg1582Thr)
c.4970G>C (p.Arg1657Thr)
c.4742G>C (p.Arg1581Thr)
c.4886G>C (p.Arg1629Thr)
c.3932G>C (p.Arg1311Thr)
c.4889G>C (p.Arg1630Thr)
c.4883G>C (p.Arg1628Thr)
c.4844G>C (p.Arg1615Thr)
c.4760G>C (p.Arg1587Thr)
c.4952G>C (p.Arg1651Thr)
c.4865G>C (p.Arg1622Thr)
c.4871G>C (p.Arg1624Thr)
c.4802G>C (p.Arg1601Thr)
c.5042G>C (p.Arg1681Thr)
c.5039G>C (p.Arg1680Thr)
c.4961G>C (p.Arg1654Thr)
c.4958G>C (p.Arg1653Thr)
c.4916G>C (p.Arg1639Thr)
c.4913G>C (p.Arg1638Thr)
c.4829G>C (p.Arg1610Thr)
2g.229787533C>TCA350892256TRIP12c.4790G>A (p.Arg1597Lys)
c.4799G>A (p.Arg1600Lys)
c.4967G>A (p.Arg1656Lys)
c.4826G>A (p.Arg1609Lys)
c.*3131G>A (n.*3131G>A)
c.4841G>A (p.Arg1614Lys)
c.4955G>A (p.Arg1652Lys)
c.621G>A
c.*2451G>A (n.*2451G>A)
c.4690G>A
c.4745G>A (p.Arg1582Lys)
c.4970G>A (p.Arg1657Lys)
c.4742G>A (p.Arg1581Lys)
c.4886G>A (p.Arg1629Lys)
c.3932G>A (p.Arg1311Lys)
c.4889G>A (p.Arg1630Lys)
c.4883G>A (p.Arg1628Lys)
c.4844G>A (p.Arg1615Lys)
c.4760G>A (p.Arg1587Lys)
c.4952G>A (p.Arg1651Lys)
c.4865G>A (p.Arg1622Lys)
c.4871G>A (p.Arg1624Lys)
c.4802G>A (p.Arg1601Lys)
c.5042G>A (p.Arg1681Lys)
c.5039G>A (p.Arg1680Lys)
c.4961G>A (p.Arg1654Lys)
c.4958G>A (p.Arg1653Lys)
c.4916G>A (p.Arg1639Lys)
c.4913G>A (p.Arg1638Lys)
c.4829G>A (p.Arg1610Lys)
2g.229787534T>ACA350892257TRIP12c.4789A>T (p.Arg1597Ter)
c.4798A>T (p.Arg1600Ter)
c.4966A>T (p.Arg1656Ter)
c.4825A>T (p.Arg1609Ter)
c.*3130A>T (n.*3130A>T)
c.4840A>T (p.Arg1614Ter)
c.4954A>T (p.Arg1652Ter)
c.620A>T
c.*2450A>T (n.*2450A>T)
c.4689A>T
c.4744A>T (p.Arg1582Ter)
c.4969A>T (p.Arg1657Ter)
c.4741A>T (p.Arg1581Ter)
c.4885A>T (p.Arg1629Ter)
c.3931A>T (p.Arg1311Ter)
c.4888A>T (p.Arg1630Ter)
c.4882A>T (p.Arg1628Ter)
c.4843A>T (p.Arg1615Ter)
c.4759A>T (p.Arg1587Ter)
c.4951A>T (p.Arg1651Ter)
c.4864A>T (p.Arg1622Ter)
c.4870A>T (p.Arg1624Ter)
c.4801A>T (p.Arg1601Ter)
c.5041A>T (p.Arg1681Ter)
c.5038A>T (p.Arg1680Ter)
c.4960A>T (p.Arg1654Ter)
c.4957A>T (p.Arg1653Ter)
c.4915A>T (p.Arg1639Ter)
c.4912A>T (p.Arg1638Ter)
c.4828A>T (p.Arg1610Ter)
2g.229787534T>CCA350892258TRIP12c.4789A>G (p.Arg1597Gly)
c.4798A>G (p.Arg1600Gly)
c.4966A>G (p.Arg1656Gly)
c.4825A>G (p.Arg1609Gly)
c.*3130A>G (n.*3130A>G)
c.4840A>G (p.Arg1614Gly)
c.4954A>G (p.Arg1652Gly)
c.620A>G
c.*2450A>G (n.*2450A>G)
c.4689A>G
c.4744A>G (p.Arg1582Gly)
c.4969A>G (p.Arg1657Gly)
c.4741A>G (p.Arg1581Gly)
c.4885A>G (p.Arg1629Gly)
c.3931A>G (p.Arg1311Gly)
c.4888A>G (p.Arg1630Gly)
c.4882A>G (p.Arg1628Gly)
c.4843A>G (p.Arg1615Gly)
c.4759A>G (p.Arg1587Gly)
c.4951A>G (p.Arg1651Gly)
c.4864A>G (p.Arg1622Gly)
c.4870A>G (p.Arg1624Gly)
c.4801A>G (p.Arg1601Gly)
c.5041A>G (p.Arg1681Gly)
c.5038A>G (p.Arg1680Gly)
c.4960A>G (p.Arg1654Gly)
c.4957A>G (p.Arg1653Gly)
c.4915A>G (p.Arg1639Gly)
c.4912A>G (p.Arg1638Gly)
c.4828A>G (p.Arg1610Gly)
2g.229787534T>GCA431535001TRIP12c.4789A>C (p.Arg1597=)
c.4798A>C (p.Arg1600=)
c.4966A>C (p.Arg1656=)
c.4825A>C (p.Arg1609=)
c.*3130A>C (n.*3130A>C)
c.4840A>C (p.Arg1614=)
c.4954A>C (p.Arg1652=)
c.620A>C
c.*2450A>C (n.*2450A>C)
c.4689A>C
c.4744A>C (p.Arg1582=)
c.4969A>C (p.Arg1657=)
c.4741A>C (p.Arg1581=)
c.4885A>C (p.Arg1629=)
c.3931A>C (p.Arg1311=)
c.4888A>C (p.Arg1630=)
c.4882A>C (p.Arg1628=)
c.4843A>C (p.Arg1615=)
c.4759A>C (p.Arg1587=)
c.4951A>C (p.Arg1651=)
c.4864A>C (p.Arg1622=)
c.4870A>C (p.Arg1624=)
c.4801A>C (p.Arg1601=)
c.5041A>C (p.Arg1681=)
c.5038A>C (p.Arg1680=)
c.4960A>C (p.Arg1654=)
c.4957A>C (p.Arg1653=)
c.4915A>C (p.Arg1639=)
c.4912A>C (p.Arg1638=)
c.4828A>C (p.Arg1610=)
2g.229787535G>ACA431535002TRIP12c.4788C>T (p.Ser1596=)
c.4797C>T (p.Ser1599=)
c.4965C>T (p.Ser1655=)
c.4824C>T (p.Ser1608=)
c.*3129C>T (n.*3129C>T)
c.4839C>T (p.Ser1613=)
c.4953C>T (p.Ser1651=)
c.619C>T
c.*2449C>T (n.*2449C>T)
c.4688C>T
c.4743C>T (p.Ser1581=)
c.4968C>T (p.Ser1656=)
c.4740C>T (p.Ser1580=)
c.4884C>T (p.Ser1628=)
c.3930C>T (p.Ser1310=)
c.4887C>T (p.Ser1629=)
c.4881C>T (p.Ser1627=)
c.4842C>T (p.Ser1614=)
c.4758C>T (p.Ser1586=)
c.4950C>T (p.Ser1650=)
c.4863C>T (p.Ser1621=)
c.4869C>T (p.Ser1623=)
c.4800C>T (p.Ser1600=)
c.5040C>T (p.Ser1680=)
c.5037C>T (p.Ser1679=)
c.4959C>T (p.Ser1653=)
c.4956C>T (p.Ser1652=)
c.4914C>T (p.Ser1638=)
c.4911C>T (p.Ser1637=)
c.4827C>T (p.Ser1609=)
2g.229787535G>CCA350892262TRIP12c.4788C>G (p.Ser1596Arg)
c.4797C>G (p.Ser1599Arg)
c.4965C>G (p.Ser1655Arg)
c.4824C>G (p.Ser1608Arg)
c.*3129C>G (n.*3129C>G)
c.4839C>G (p.Ser1613Arg)
c.4953C>G (p.Ser1651Arg)
c.619C>G
c.*2449C>G (n.*2449C>G)
c.4688C>G
c.4743C>G (p.Ser1581Arg)
c.4968C>G (p.Ser1656Arg)
c.4740C>G (p.Ser1580Arg)
c.4884C>G (p.Ser1628Arg)
c.3930C>G (p.Ser1310Arg)
c.4887C>G (p.Ser1629Arg)
c.4881C>G (p.Ser1627Arg)
c.4842C>G (p.Ser1614Arg)
c.4758C>G (p.Ser1586Arg)
c.4950C>G (p.Ser1650Arg)
c.4863C>G (p.Ser1621Arg)
c.4869C>G (p.Ser1623Arg)
c.4800C>G (p.Ser1600Arg)
c.5040C>G (p.Ser1680Arg)
c.5037C>G (p.Ser1679Arg)
c.4959C>G (p.Ser1653Arg)
c.4956C>G (p.Ser1652Arg)
c.4914C>G (p.Ser1638Arg)
c.4911C>G (p.Ser1637Arg)
c.4827C>G (p.Ser1609Arg)
2g.229787535G>TCA350892264TRIP12c.4788C>A (p.Ser1596Arg)
c.4797C>A (p.Ser1599Arg)
c.4965C>A (p.Ser1655Arg)
c.4824C>A (p.Ser1608Arg)
c.*3129C>A (n.*3129C>A)
c.4839C>A (p.Ser1613Arg)
c.4953C>A (p.Ser1651Arg)
c.619C>A
c.*2449C>A (n.*2449C>A)
c.4688C>A
c.4743C>A (p.Ser1581Arg)
c.4968C>A (p.Ser1656Arg)
c.4740C>A (p.Ser1580Arg)
c.4884C>A (p.Ser1628Arg)
c.3930C>A (p.Ser1310Arg)
c.4887C>A (p.Ser1629Arg)
c.4881C>A (p.Ser1627Arg)
c.4842C>A (p.Ser1614Arg)
c.4758C>A (p.Ser1586Arg)
c.4950C>A (p.Ser1650Arg)
c.4863C>A (p.Ser1621Arg)
c.4869C>A (p.Ser1623Arg)
c.4800C>A (p.Ser1600Arg)
c.5040C>A (p.Ser1680Arg)
c.5037C>A (p.Ser1679Arg)
c.4959C>A (p.Ser1653Arg)
c.4956C>A (p.Ser1652Arg)
c.4914C>A (p.Ser1638Arg)
c.4911C>A (p.Ser1637Arg)
c.4827C>A (p.Ser1609Arg)
2g.229787536C>ACA350892270TRIP12c.4787G>T (p.Ser1596Ile)
c.4796G>T (p.Ser1599Ile)
c.4964G>T (p.Ser1655Ile)
c.4823G>T (p.Ser1608Ile)
c.*3128G>T (n.*3128G>T)
c.4838G>T (p.Ser1613Ile)
c.4952G>T (p.Ser1651Ile)
c.618G>T
c.*2448G>T (n.*2448G>T)
c.4687G>T
c.4742G>T (p.Ser1581Ile)
c.4967G>T (p.Ser1656Ile)
c.4739G>T (p.Ser1580Ile)
c.4883G>T (p.Ser1628Ile)
c.3929G>T (p.Ser1310Ile)
c.4886G>T (p.Ser1629Ile)
c.4880G>T (p.Ser1627Ile)
c.4841G>T (p.Ser1614Ile)
c.4757G>T (p.Ser1586Ile)
c.4949G>T (p.Ser1650Ile)
c.4862G>T (p.Ser1621Ile)
c.4868G>T (p.Ser1623Ile)
c.4799G>T (p.Ser1600Ile)
c.5039G>T (p.Ser1680Ile)
c.5036G>T (p.Ser1679Ile)
c.4958G>T (p.Ser1653Ile)
c.4955G>T (p.Ser1652Ile)
c.4913G>T (p.Ser1638Ile)
c.4910G>T (p.Ser1637Ile)
c.4826G>T (p.Ser1609Ile)
2g.229787536C=CA1334026965TRIP12c.4787G= (p.Ser1596=)
c.4796G= (p.Ser1599=)
c.4964G= (p.Ser1655=)
c.4823G= (p.Ser1608=)
c.*3128G= (n.*3128G=)
c.4838G= (p.Ser1613=)
c.4952G= (p.Ser1651=)
c.618G=
c.*2448G= (n.*2448G=)
c.4687G=
c.4742G= (p.Ser1581=)
c.4967G= (p.Ser1656=)
c.4739G= (p.Ser1580=)
c.4883G= (p.Ser1628=)
c.3929G= (p.Ser1310=)
c.4886G= (p.Ser1629=)
c.4880G= (p.Ser1627=)
c.4841G= (p.Ser1614=)
c.4757G= (p.Ser1586=)
c.4949G= (p.Ser1650=)
c.4862G= (p.Ser1621=)
c.4868G= (p.Ser1623=)
c.4799G= (p.Ser1600=)
c.5039G= (p.Ser1680=)
c.5036G= (p.Ser1679=)
c.4958G= (p.Ser1653=)
c.4955G= (p.Ser1652=)
c.4913G= (p.Ser1638=)
c.4910G= (p.Ser1637=)
c.4826G= (p.Ser1609=)
2g.229787536C>GCA350892281TRIP12c.4787G>C (p.Ser1596Thr)
c.4796G>C (p.Ser1599Thr)
c.4964G>C (p.Ser1655Thr)
c.4823G>C (p.Ser1608Thr)
c.*3128G>C (n.*3128G>C)
c.4838G>C (p.Ser1613Thr)
c.4952G>C (p.Ser1651Thr)
c.618G>C
c.*2448G>C (n.*2448G>C)
c.4687G>C
c.4742G>C (p.Ser1581Thr)
c.4967G>C (p.Ser1656Thr)
c.4739G>C (p.Ser1580Thr)
c.4883G>C (p.Ser1628Thr)
c.3929G>C (p.Ser1310Thr)
c.4886G>C (p.Ser1629Thr)
c.4880G>C (p.Ser1627Thr)
c.4841G>C (p.Ser1614Thr)
c.4757G>C (p.Ser1586Thr)
c.4949G>C (p.Ser1650Thr)
c.4862G>C (p.Ser1621Thr)
c.4868G>C (p.Ser1623Thr)
c.4799G>C (p.Ser1600Thr)
c.5039G>C (p.Ser1680Thr)
c.5036G>C (p.Ser1679Thr)
c.4958G>C (p.Ser1653Thr)
c.4955G>C (p.Ser1652Thr)
c.4913G>C (p.Ser1638Thr)
c.4910G>C (p.Ser1637Thr)
c.4826G>C (p.Ser1609Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.229787536C>TCA350892284TRIP12c.4787G>A (p.Ser1596Asn)
c.4796G>A (p.Ser1599Asn)
c.4964G>A (p.Ser1655Asn)
c.4823G>A (p.Ser1608Asn)
c.*3128G>A (n.*3128G>A)
c.4838G>A (p.Ser1613Asn)
c.4952G>A (p.Ser1651Asn)
c.618G>A
c.*2448G>A (n.*2448G>A)
c.4687G>A
c.4742G>A (p.Ser1581Asn)
c.4967G>A (p.Ser1656Asn)
c.4739G>A (p.Ser1580Asn)
c.4883G>A (p.Ser1628Asn)
c.3929G>A (p.Ser1310Asn)
c.4886G>A (p.Ser1629Asn)
c.4880G>A (p.Ser1627Asn)
c.4841G>A (p.Ser1614Asn)
c.4757G>A (p.Ser1586Asn)
c.4949G>A (p.Ser1650Asn)
c.4862G>A (p.Ser1621Asn)
c.4868G>A (p.Ser1623Asn)
c.4799G>A (p.Ser1600Asn)
c.5039G>A (p.Ser1680Asn)
c.5036G>A (p.Ser1679Asn)
c.4958G>A (p.Ser1653Asn)
c.4955G>A (p.Ser1652Asn)
c.4913G>A (p.Ser1638Asn)
c.4910G>A (p.Ser1637Asn)
c.4826G>A (p.Ser1609Asn)
2g.229787537T>ACA350892295TRIP12c.4786A>T (p.Ser1596Cys)
c.4795A>T (p.Ser1599Cys)
c.4963A>T (p.Ser1655Cys)
c.4822A>T (p.Ser1608Cys)
c.*3127A>T (n.*3127A>T)
c.4837A>T (p.Ser1613Cys)
c.4951A>T (p.Ser1651Cys)
c.617A>T
c.*2447A>T (n.*2447A>T)
c.4686A>T
c.4741A>T (p.Ser1581Cys)
c.4966A>T (p.Ser1656Cys)
c.4738A>T (p.Ser1580Cys)
c.4882A>T (p.Ser1628Cys)
c.3928A>T (p.Ser1310Cys)
c.4885A>T (p.Ser1629Cys)
c.4879A>T (p.Ser1627Cys)
c.4840A>T (p.Ser1614Cys)
c.4756A>T (p.Ser1586Cys)
c.4948A>T (p.Ser1650Cys)
c.4861A>T (p.Ser1621Cys)
c.4867A>T (p.Ser1623Cys)
c.4798A>T (p.Ser1600Cys)
c.5038A>T (p.Ser1680Cys)
c.5035A>T (p.Ser1679Cys)
c.4957A>T (p.Ser1653Cys)
c.4954A>T (p.Ser1652Cys)
c.4912A>T (p.Ser1638Cys)
c.4909A>T (p.Ser1637Cys)
c.4825A>T (p.Ser1609Cys)
2g.229787537T>CCA350892293TRIP12c.4786A>G (p.Ser1596Gly)
c.4795A>G (p.Ser1599Gly)
c.4963A>G (p.Ser1655Gly)
c.4822A>G (p.Ser1608Gly)
c.*3127A>G (n.*3127A>G)
c.4837A>G (p.Ser1613Gly)
c.4951A>G (p.Ser1651Gly)
c.617A>G
c.*2447A>G (n.*2447A>G)
c.4686A>G
c.4741A>G (p.Ser1581Gly)
c.4966A>G (p.Ser1656Gly)
c.4738A>G (p.Ser1580Gly)
c.4882A>G (p.Ser1628Gly)
c.3928A>G (p.Ser1310Gly)
c.4885A>G (p.Ser1629Gly)
c.4879A>G (p.Ser1627Gly)
c.4840A>G (p.Ser1614Gly)
c.4756A>G (p.Ser1586Gly)
c.4948A>G (p.Ser1650Gly)
c.4861A>G (p.Ser1621Gly)
c.4867A>G (p.Ser1623Gly)
c.4798A>G (p.Ser1600Gly)
c.5038A>G (p.Ser1680Gly)
c.5035A>G (p.Ser1679Gly)
c.4957A>G (p.Ser1653Gly)
c.4954A>G (p.Ser1652Gly)
c.4912A>G (p.Ser1638Gly)
c.4909A>G (p.Ser1637Gly)
c.4825A>G (p.Ser1609Gly)
2g.229787537T>GCA350892294TRIP12c.4786A>C (p.Ser1596Arg)
c.4795A>C (p.Ser1599Arg)
c.4963A>C (p.Ser1655Arg)
c.4822A>C (p.Ser1608Arg)
c.*3127A>C (n.*3127A>C)
c.4837A>C (p.Ser1613Arg)
c.4951A>C (p.Ser1651Arg)
c.617A>C
c.*2447A>C (n.*2447A>C)
c.4686A>C
c.4741A>C (p.Ser1581Arg)
c.4966A>C (p.Ser1656Arg)
c.4738A>C (p.Ser1580Arg)
c.4882A>C (p.Ser1628Arg)
c.3928A>C (p.Ser1310Arg)
c.4885A>C (p.Ser1629Arg)
c.4879A>C (p.Ser1627Arg)
c.4840A>C (p.Ser1614Arg)
c.4756A>C (p.Ser1586Arg)
c.4948A>C (p.Ser1650Arg)
c.4861A>C (p.Ser1621Arg)
c.4867A>C (p.Ser1623Arg)
c.4798A>C (p.Ser1600Arg)
c.5038A>C (p.Ser1680Arg)
c.5035A>C (p.Ser1679Arg)
c.4957A>C (p.Ser1653Arg)
c.4954A>C (p.Ser1652Arg)
c.4912A>C (p.Ser1638Arg)
c.4909A>C (p.Ser1637Arg)
c.4825A>C (p.Ser1609Arg)
2g.229787538A>CCA350892296TRIP12c.4785T>G (p.Asp1595Glu)
c.4794T>G (p.Asp1598Glu)
c.4962T>G (p.Asp1654Glu)
c.4821T>G (p.Asp1607Glu)
c.*3126T>G (n.*3126T>G)
c.4836T>G (p.Asp1612Glu)
c.4950T>G (p.Asp1650Glu)
c.616T>G
c.*2446T>G (n.*2446T>G)
c.4685T>G
c.4740T>G (p.Asp1580Glu)
c.4965T>G (p.Asp1655Glu)
c.4737T>G (p.Asp1579Glu)
c.4881T>G (p.Asp1627Glu)
c.3927T>G (p.Asp1309Glu)
c.4884T>G (p.Asp1628Glu)
c.4878T>G (p.Asp1626Glu)
c.4839T>G (p.Asp1613Glu)
c.4755T>G (p.Asp1585Glu)
c.4947T>G (p.Asp1649Glu)
c.4860T>G (p.Asp1620Glu)
c.4866T>G (p.Asp1622Glu)
c.4797T>G (p.Asp1599Glu)
c.5037T>G (p.Asp1679Glu)
c.5034T>G (p.Asp1678Glu)
c.4956T>G (p.Asp1652Glu)
c.4953T>G (p.Asp1651Glu)
c.4911T>G (p.Asp1637Glu)
c.4908T>G (p.Asp1636Glu)
c.4824T>G (p.Asp1608Glu)
2g.229787538A>GCA431535003TRIP12c.4785T>C (p.Asp1595=)
c.4794T>C (p.Asp1598=)
c.4962T>C (p.Asp1654=)
c.4821T>C (p.Asp1607=)
c.*3126T>C (n.*3126T>C)
c.4836T>C (p.Asp1612=)
c.4950T>C (p.Asp1650=)
c.616T>C
c.*2446T>C (n.*2446T>C)
c.4685T>C
c.4740T>C (p.Asp1580=)
c.4965T>C (p.Asp1655=)
c.4737T>C (p.Asp1579=)
c.4881T>C (p.Asp1627=)
c.3927T>C (p.Asp1309=)
c.4884T>C (p.Asp1628=)
c.4878T>C (p.Asp1626=)
c.4839T>C (p.Asp1613=)
c.4755T>C (p.Asp1585=)
c.4947T>C (p.Asp1649=)
c.4860T>C (p.Asp1620=)
c.4866T>C (p.Asp1622=)
c.4797T>C (p.Asp1599=)
c.5037T>C (p.Asp1679=)
c.5034T>C (p.Asp1678=)
c.4956T>C (p.Asp1652=)
c.4953T>C (p.Asp1651=)
c.4911T>C (p.Asp1637=)
c.4908T>C (p.Asp1636=)
c.4824T>C (p.Asp1608=)
2g.229787538A>TCA350892297TRIP12c.4785T>A (p.Asp1595Glu)
c.4794T>A (p.Asp1598Glu)
c.4962T>A (p.Asp1654Glu)
c.4821T>A (p.Asp1607Glu)
c.*3126T>A (n.*3126T>A)
c.4836T>A (p.Asp1612Glu)
c.4950T>A (p.Asp1650Glu)
c.616T>A
c.*2446T>A (n.*2446T>A)
c.4685T>A
c.4740T>A (p.Asp1580Glu)
c.4965T>A (p.Asp1655Glu)
c.4737T>A (p.Asp1579Glu)
c.4881T>A (p.Asp1627Glu)
c.3927T>A (p.Asp1309Glu)
c.4884T>A (p.Asp1628Glu)
c.4878T>A (p.Asp1626Glu)
c.4839T>A (p.Asp1613Glu)
c.4755T>A (p.Asp1585Glu)
c.4947T>A (p.Asp1649Glu)
c.4860T>A (p.Asp1620Glu)
c.4866T>A (p.Asp1622Glu)
c.4797T>A (p.Asp1599Glu)
c.5037T>A (p.Asp1679Glu)
c.5034T>A (p.Asp1678Glu)
c.4956T>A (p.Asp1652Glu)
c.4953T>A (p.Asp1651Glu)
c.4911T>A (p.Asp1637Glu)
c.4908T>A (p.Asp1636Glu)
c.4824T>A (p.Asp1608Glu)
2g.229787539T>ACA350892300TRIP12c.4784A>T (p.Asp1595Val)
c.4793A>T (p.Asp1598Val)
c.4961A>T (p.Asp1654Val)
c.4820A>T (p.Asp1607Val)
c.*3125A>T (n.*3125A>T)
c.4835A>T (p.Asp1612Val)
c.4949A>T (p.Asp1650Val)
c.615A>T
c.*2445A>T (n.*2445A>T)
c.4684A>T
c.4739A>T (p.Asp1580Val)
c.4964A>T (p.Asp1655Val)
c.4736A>T (p.Asp1579Val)
c.4880A>T (p.Asp1627Val)
c.3926A>T (p.Asp1309Val)
c.4883A>T (p.Asp1628Val)
c.4877A>T (p.Asp1626Val)
c.4838A>T (p.Asp1613Val)
c.4754A>T (p.Asp1585Val)
c.4946A>T (p.Asp1649Val)
c.4859A>T (p.Asp1620Val)
c.4865A>T (p.Asp1622Val)
c.4796A>T (p.Asp1599Val)
c.5036A>T (p.Asp1679Val)
c.5033A>T (p.Asp1678Val)
c.4955A>T (p.Asp1652Val)
c.4952A>T (p.Asp1651Val)
c.4910A>T (p.Asp1637Val)
c.4907A>T (p.Asp1636Val)
c.4823A>T (p.Asp1608Val)
2g.229787539T>CCA350892304TRIP12c.4784A>G (p.Asp1595Gly)
c.4793A>G (p.Asp1598Gly)
c.4961A>G (p.Asp1654Gly)
c.4820A>G (p.Asp1607Gly)
c.*3125A>G (n.*3125A>G)
c.4835A>G (p.Asp1612Gly)
c.4949A>G (p.Asp1650Gly)
c.615A>G
c.*2445A>G (n.*2445A>G)
c.4684A>G
c.4739A>G (p.Asp1580Gly)
c.4964A>G (p.Asp1655Gly)
c.4736A>G (p.Asp1579Gly)
c.4880A>G (p.Asp1627Gly)
c.3926A>G (p.Asp1309Gly)
c.4883A>G (p.Asp1628Gly)
c.4877A>G (p.Asp1626Gly)
c.4838A>G (p.Asp1613Gly)
c.4754A>G (p.Asp1585Gly)
c.4946A>G (p.Asp1649Gly)
c.4859A>G (p.Asp1620Gly)
c.4865A>G (p.Asp1622Gly)
c.4796A>G (p.Asp1599Gly)
c.5036A>G (p.Asp1679Gly)
c.5033A>G (p.Asp1678Gly)
c.4955A>G (p.Asp1652Gly)
c.4952A>G (p.Asp1651Gly)
c.4910A>G (p.Asp1637Gly)
c.4907A>G (p.Asp1636Gly)
c.4823A>G (p.Asp1608Gly)
 gnomAD v4
2g.229787539T>GCA350892306TRIP12c.4784A>C (p.Asp1595Ala)
c.4793A>C (p.Asp1598Ala)
c.4961A>C (p.Asp1654Ala)
c.4820A>C (p.Asp1607Ala)
c.*3125A>C (n.*3125A>C)
c.4835A>C (p.Asp1612Ala)
c.4949A>C (p.Asp1650Ala)
c.615A>C
c.*2445A>C (n.*2445A>C)
c.4684A>C
c.4739A>C (p.Asp1580Ala)
c.4964A>C (p.Asp1655Ala)
c.4736A>C (p.Asp1579Ala)
c.4880A>C (p.Asp1627Ala)
c.3926A>C (p.Asp1309Ala)
c.4883A>C (p.Asp1628Ala)
c.4877A>C (p.Asp1626Ala)
c.4838A>C (p.Asp1613Ala)
c.4754A>C (p.Asp1585Ala)
c.4946A>C (p.Asp1649Ala)
c.4859A>C (p.Asp1620Ala)
c.4865A>C (p.Asp1622Ala)
c.4796A>C (p.Asp1599Ala)
c.5036A>C (p.Asp1679Ala)
c.5033A>C (p.Asp1678Ala)
c.4955A>C (p.Asp1652Ala)
c.4952A>C (p.Asp1651Ala)
c.4910A>C (p.Asp1637Ala)
c.4907A>C (p.Asp1636Ala)
c.4823A>C (p.Asp1608Ala)
2g.229787540C>ACA350892308TRIP12c.4783G>T (p.Asp1595Tyr)
c.4792G>T (p.Asp1598Tyr)
c.4960G>T (p.Asp1654Tyr)
c.4819G>T (p.Asp1607Tyr)
c.*3124G>T (n.*3124G>T)
c.4834G>T (p.Asp1612Tyr)
c.4948G>T (p.Asp1650Tyr)
c.614G>T
c.*2444G>T (n.*2444G>T)
c.4683G>T
c.4738G>T (p.Asp1580Tyr)
c.4963G>T (p.Asp1655Tyr)
c.4735G>T (p.Asp1579Tyr)
c.4879G>T (p.Asp1627Tyr)
c.3925G>T (p.Asp1309Tyr)
c.4882G>T (p.Asp1628Tyr)
c.4876G>T (p.Asp1626Tyr)
c.4837G>T (p.Asp1613Tyr)
c.4753G>T (p.Asp1585Tyr)
c.4945G>T (p.Asp1649Tyr)
c.4858G>T (p.Asp1620Tyr)
c.4864G>T (p.Asp1622Tyr)
c.4795G>T (p.Asp1599Tyr)
c.5035G>T (p.Asp1679Tyr)
c.5032G>T (p.Asp1678Tyr)
c.4954G>T (p.Asp1652Tyr)
c.4951G>T (p.Asp1651Tyr)
c.4909G>T (p.Asp1637Tyr)
c.4906G>T (p.Asp1636Tyr)
c.4822G>T (p.Asp1608Tyr)
2g.229787540C>GCA350892311TRIP12c.4783G>C (p.Asp1595His)
c.4792G>C (p.Asp1598His)
c.4960G>C (p.Asp1654His)
c.4819G>C (p.Asp1607His)
c.*3124G>C (n.*3124G>C)
c.4834G>C (p.Asp1612His)
c.4948G>C (p.Asp1650His)
c.614G>C
c.*2444G>C (n.*2444G>C)
c.4683G>C
c.4738G>C (p.Asp1580His)
c.4963G>C (p.Asp1655His)
c.4735G>C (p.Asp1579His)
c.4879G>C (p.Asp1627His)
c.3925G>C (p.Asp1309His)
c.4882G>C (p.Asp1628His)
c.4876G>C (p.Asp1626His)
c.4837G>C (p.Asp1613His)
c.4753G>C (p.Asp1585His)
c.4945G>C (p.Asp1649His)
c.4858G>C (p.Asp1620His)
c.4864G>C (p.Asp1622His)
c.4795G>C (p.Asp1599His)
c.5035G>C (p.Asp1679His)
c.5032G>C (p.Asp1678His)
c.4954G>C (p.Asp1652His)
c.4951G>C (p.Asp1651His)
c.4909G>C (p.Asp1637His)
c.4906G>C (p.Asp1636His)
c.4822G>C (p.Asp1608His)
2g.229787540C>TCA350892313TRIP12c.4783G>A (p.Asp1595Asn)
c.4792G>A (p.Asp1598Asn)
c.4960G>A (p.Asp1654Asn)
c.4819G>A (p.Asp1607Asn)
c.*3124G>A (n.*3124G>A)
c.4834G>A (p.Asp1612Asn)
c.4948G>A (p.Asp1650Asn)
c.614G>A
c.*2444G>A (n.*2444G>A)
c.4683G>A
c.4738G>A (p.Asp1580Asn)
c.4963G>A (p.Asp1655Asn)
c.4735G>A (p.Asp1579Asn)
c.4879G>A (p.Asp1627Asn)
c.3925G>A (p.Asp1309Asn)
c.4882G>A (p.Asp1628Asn)
c.4876G>A (p.Asp1626Asn)
c.4837G>A (p.Asp1613Asn)
c.4753G>A (p.Asp1585Asn)
c.4945G>A (p.Asp1649Asn)
c.4858G>A (p.Asp1620Asn)
c.4864G>A (p.Asp1622Asn)
c.4795G>A (p.Asp1599Asn)
c.5035G>A (p.Asp1679Asn)
c.5032G>A (p.Asp1678Asn)
c.4954G>A (p.Asp1652Asn)
c.4951G>A (p.Asp1651Asn)
c.4909G>A (p.Asp1637Asn)
c.4906G>A (p.Asp1636Asn)
c.4822G>A (p.Asp1608Asn)
2g.229787541T>ACA350892316TRIP12c.4782A>T (p.Gln1594His)
c.4791A>T (p.Gln1597His)
c.4959A>T (p.Gln1653His)
c.4818A>T (p.Gln1606His)
c.*3123A>T (n.*3123A>T)
c.4833A>T (p.Gln1611His)
c.4947A>T (p.Gln1649His)
c.613A>T
c.*2443A>T (n.*2443A>T)
c.4682A>T
c.4737A>T (p.Gln1579His)
c.4962A>T (p.Gln1654His)
c.4734A>T (p.Gln1578His)
c.4878A>T (p.Gln1626His)
c.3924A>T (p.Gln1308His)
c.4881A>T (p.Gln1627His)
c.4875A>T (p.Gln1625His)
c.4836A>T (p.Gln1612His)
c.4752A>T (p.Gln1584His)
c.4944A>T (p.Gln1648His)
c.4857A>T (p.Gln1619His)
c.4863A>T (p.Gln1621His)
c.4794A>T (p.Gln1598His)
c.5034A>T (p.Gln1678His)
c.5031A>T (p.Gln1677His)
c.4953A>T (p.Gln1651His)
c.4950A>T (p.Gln1650His)
c.4908A>T (p.Gln1636His)
c.4905A>T (p.Gln1635His)
c.4821A>T (p.Gln1607His)
2g.229787541T>CCA431535004TRIP12c.4782A>G (p.Gln1594=)
c.4791A>G (p.Gln1597=)
c.4959A>G (p.Gln1653=)
c.4818A>G (p.Gln1606=)
c.*3123A>G (n.*3123A>G)
c.4833A>G (p.Gln1611=)
c.4947A>G (p.Gln1649=)
c.613A>G
c.*2443A>G (n.*2443A>G)
c.4682A>G
c.4737A>G (p.Gln1579=)
c.4962A>G (p.Gln1654=)
c.4734A>G (p.Gln1578=)
c.4878A>G (p.Gln1626=)
c.3924A>G (p.Gln1308=)
c.4881A>G (p.Gln1627=)
c.4875A>G (p.Gln1625=)
c.4836A>G (p.Gln1612=)
c.4752A>G (p.Gln1584=)
c.4944A>G (p.Gln1648=)
c.4857A>G (p.Gln1619=)
c.4863A>G (p.Gln1621=)
c.4794A>G (p.Gln1598=)
c.5034A>G (p.Gln1678=)
c.5031A>G (p.Gln1677=)
c.4953A>G (p.Gln1651=)
c.4950A>G (p.Gln1650=)
c.4908A>G (p.Gln1636=)
c.4905A>G (p.Gln1635=)
c.4821A>G (p.Gln1607=)
2g.229787541T>GCA350892319TRIP12c.4782A>C (p.Gln1594His)
c.4791A>C (p.Gln1597His)
c.4959A>C (p.Gln1653His)
c.4818A>C (p.Gln1606His)
c.*3123A>C (n.*3123A>C)
c.4833A>C (p.Gln1611His)
c.4947A>C (p.Gln1649His)
c.613A>C
c.*2443A>C (n.*2443A>C)
c.4682A>C
c.4737A>C (p.Gln1579His)
c.4962A>C (p.Gln1654His)
c.4734A>C (p.Gln1578His)
c.4878A>C (p.Gln1626His)
c.3924A>C (p.Gln1308His)
c.4881A>C (p.Gln1627His)
c.4875A>C (p.Gln1625His)
c.4836A>C (p.Gln1612His)
c.4752A>C (p.Gln1584His)
c.4944A>C (p.Gln1648His)
c.4857A>C (p.Gln1619His)
c.4863A>C (p.Gln1621His)
c.4794A>C (p.Gln1598His)
c.5034A>C (p.Gln1678His)
c.5031A>C (p.Gln1677His)
c.4953A>C (p.Gln1651His)
c.4950A>C (p.Gln1650His)
c.4908A>C (p.Gln1636His)
c.4905A>C (p.Gln1635His)
c.4821A>C (p.Gln1607His)
2g.229787542T>ACA350892324TRIP12c.4781A>T (p.Gln1594Leu)
c.4790A>T (p.Gln1597Leu)
c.4958A>T (p.Gln1653Leu)
c.4817A>T (p.Gln1606Leu)
c.*3122A>T (n.*3122A>T)
c.4832A>T (p.Gln1611Leu)
c.4946A>T (p.Gln1649Leu)
c.612A>T
c.*2442A>T (n.*2442A>T)
c.4681A>T
c.4736A>T (p.Gln1579Leu)
c.4961A>T (p.Gln1654Leu)
c.4733A>T (p.Gln1578Leu)
c.4877A>T (p.Gln1626Leu)
c.3923A>T (p.Gln1308Leu)
c.4880A>T (p.Gln1627Leu)
c.4874A>T (p.Gln1625Leu)
c.4835A>T (p.Gln1612Leu)
c.4751A>T (p.Gln1584Leu)
c.4943A>T (p.Gln1648Leu)
c.4856A>T (p.Gln1619Leu)
c.4862A>T (p.Gln1621Leu)
c.4793A>T (p.Gln1598Leu)
c.5033A>T (p.Gln1678Leu)
c.5030A>T (p.Gln1677Leu)
c.4952A>T (p.Gln1651Leu)
c.4949A>T (p.Gln1650Leu)
c.4907A>T (p.Gln1636Leu)
c.4904A>T (p.Gln1635Leu)
c.4820A>T (p.Gln1607Leu)
2g.229787542T>CCA2152431TRIP12c.4781A>G (p.Gln1594Arg)
c.4790A>G (p.Gln1597Arg)
c.4958A>G (p.Gln1653Arg)
c.4817A>G (p.Gln1606Arg)
c.*3122A>G (n.*3122A>G)
c.4832A>G (p.Gln1611Arg)
c.4946A>G (p.Gln1649Arg)
c.612A>G
c.*2442A>G (n.*2442A>G)
c.4681A>G
c.4736A>G (p.Gln1579Arg)
c.4961A>G (p.Gln1654Arg)
c.4733A>G (p.Gln1578Arg)
c.4877A>G (p.Gln1626Arg)
c.3923A>G (p.Gln1308Arg)
c.4880A>G (p.Gln1627Arg)
c.4874A>G (p.Gln1625Arg)
c.4835A>G (p.Gln1612Arg)
c.4751A>G (p.Gln1584Arg)
c.4943A>G (p.Gln1648Arg)
c.4856A>G (p.Gln1619Arg)
c.4862A>G (p.Gln1621Arg)
c.4793A>G (p.Gln1598Arg)
c.5033A>G (p.Gln1678Arg)
c.5030A>G (p.Gln1677Arg)
c.4952A>G (p.Gln1651Arg)
c.4949A>G (p.Gln1650Arg)
c.4907A>G (p.Gln1636Arg)
c.4904A>G (p.Gln1635Arg)
c.4820A>G (p.Gln1607Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.229787542T>GCA2152432TRIP12c.4781A>C (p.Gln1594Pro)
c.4790A>C (p.Gln1597Pro)
c.4958A>C (p.Gln1653Pro)
c.4817A>C (p.Gln1606Pro)
c.*3122A>C (n.*3122A>C)
c.4832A>C (p.Gln1611Pro)
c.4946A>C (p.Gln1649Pro)
c.612A>C
c.*2442A>C (n.*2442A>C)
c.4681A>C
c.4736A>C (p.Gln1579Pro)
c.4961A>C (p.Gln1654Pro)
c.4733A>C (p.Gln1578Pro)
c.4877A>C (p.Gln1626Pro)
c.3923A>C (p.Gln1308Pro)
c.4880A>C (p.Gln1627Pro)
c.4874A>C (p.Gln1625Pro)
c.4835A>C (p.Gln1612Pro)
c.4751A>C (p.Gln1584Pro)
c.4943A>C (p.Gln1648Pro)
c.4856A>C (p.Gln1619Pro)
c.4862A>C (p.Gln1621Pro)
c.4793A>C (p.Gln1598Pro)
c.5033A>C (p.Gln1678Pro)
c.5030A>C (p.Gln1677Pro)
c.4952A>C (p.Gln1651Pro)
c.4949A>C (p.Gln1650Pro)
c.4907A>C (p.Gln1636Pro)
c.4904A>C (p.Gln1635Pro)
c.4820A>C (p.Gln1607Pro)
 dbSNP ExAC gnomAD v2
2g.229787542T=CA1334026966TRIP12c.4781A= (p.Gln1594=)
c.4790A= (p.Gln1597=)
c.4958A= (p.Gln1653=)
c.4817A= (p.Gln1606=)
c.*3122A= (n.*3122A=)
c.4832A= (p.Gln1611=)
c.4946A= (p.Gln1649=)
c.612A=
c.*2442A= (n.*2442A=)
c.4681A=
c.4736A= (p.Gln1579=)
c.4961A= (p.Gln1654=)
c.4733A= (p.Gln1578=)
c.4877A= (p.Gln1626=)
c.3923A= (p.Gln1308=)
c.4880A= (p.Gln1627=)
c.4874A= (p.Gln1625=)
c.4835A= (p.Gln1612=)
c.4751A= (p.Gln1584=)
c.4943A= (p.Gln1648=)
c.4856A= (p.Gln1619=)
c.4862A= (p.Gln1621=)
c.4793A= (p.Gln1598=)
c.5033A= (p.Gln1678=)
c.5030A= (p.Gln1677=)
c.4952A= (p.Gln1651=)
c.4949A= (p.Gln1650=)
c.4907A= (p.Gln1636=)
c.4904A= (p.Gln1635=)
c.4820A= (p.Gln1607=)
2g.229787543G>ACA350892325TRIP12c.4780C>T (p.Gln1594Ter)
c.4789C>T (p.Gln1597Ter)
c.4957C>T (p.Gln1653Ter)
c.4816C>T (p.Gln1606Ter)
c.*3121C>T (n.*3121C>T)
c.4831C>T (p.Gln1611Ter)
c.4945C>T (p.Gln1649Ter)
c.611C>T
c.*2441C>T (n.*2441C>T)
c.4680C>T
c.4735C>T (p.Gln1579Ter)
c.4960C>T (p.Gln1654Ter)
c.4732C>T (p.Gln1578Ter)
c.4876C>T (p.Gln1626Ter)
c.3922C>T (p.Gln1308Ter)
c.4879C>T (p.Gln1627Ter)
c.4873C>T (p.Gln1625Ter)
c.4834C>T (p.Gln1612Ter)
c.4750C>T (p.Gln1584Ter)
c.4942C>T (p.Gln1648Ter)
c.4855C>T (p.Gln1619Ter)
c.4861C>T (p.Gln1621Ter)
c.4792C>T (p.Gln1598Ter)
c.5032C>T (p.Gln1678Ter)
c.5029C>T (p.Gln1677Ter)
c.4951C>T (p.Gln1651Ter)
c.4948C>T (p.Gln1650Ter)
c.4906C>T (p.Gln1636Ter)
c.4903C>T (p.Gln1635Ter)
c.4819C>T (p.Gln1607Ter)
2g.229787543G>CCA350892327TRIP12c.4780C>G (p.Gln1594Glu)
c.4789C>G (p.Gln1597Glu)
c.4957C>G (p.Gln1653Glu)
c.4816C>G (p.Gln1606Glu)
c.*3121C>G (n.*3121C>G)
c.4831C>G (p.Gln1611Glu)
c.4945C>G (p.Gln1649Glu)
c.611C>G
c.*2441C>G (n.*2441C>G)
c.4680C>G
c.4735C>G (p.Gln1579Glu)
c.4960C>G (p.Gln1654Glu)
c.4732C>G (p.Gln1578Glu)
c.4876C>G (p.Gln1626Glu)
c.3922C>G (p.Gln1308Glu)
c.4879C>G (p.Gln1627Glu)
c.4873C>G (p.Gln1625Glu)
c.4834C>G (p.Gln1612Glu)
c.4750C>G (p.Gln1584Glu)
c.4942C>G (p.Gln1648Glu)
c.4855C>G (p.Gln1619Glu)
c.4861C>G (p.Gln1621Glu)
c.4792C>G (p.Gln1598Glu)
c.5032C>G (p.Gln1678Glu)
c.5029C>G (p.Gln1677Glu)
c.4951C>G (p.Gln1651Glu)
c.4948C>G (p.Gln1650Glu)
c.4906C>G (p.Gln1636Glu)
c.4903C>G (p.Gln1635Glu)
c.4819C>G (p.Gln1607Glu)
2g.229787543G>TCA350892326TRIP12c.4780C>A (p.Gln1594Lys)
c.4789C>A (p.Gln1597Lys)
c.4957C>A (p.Gln1653Lys)
c.4816C>A (p.Gln1606Lys)
c.*3121C>A (n.*3121C>A)
c.4831C>A (p.Gln1611Lys)
c.4945C>A (p.Gln1649Lys)
c.611C>A
c.*2441C>A (n.*2441C>A)
c.4680C>A
c.4735C>A (p.Gln1579Lys)
c.4960C>A (p.Gln1654Lys)
c.4732C>A (p.Gln1578Lys)
c.4876C>A (p.Gln1626Lys)
c.3922C>A (p.Gln1308Lys)
c.4879C>A (p.Gln1627Lys)
c.4873C>A (p.Gln1625Lys)
c.4834C>A (p.Gln1612Lys)
c.4750C>A (p.Gln1584Lys)
c.4942C>A (p.Gln1648Lys)
c.4855C>A (p.Gln1619Lys)
c.4861C>A (p.Gln1621Lys)
c.4792C>A (p.Gln1598Lys)
c.5032C>A (p.Gln1678Lys)
c.5029C>A (p.Gln1677Lys)
c.4951C>A (p.Gln1651Lys)
c.4948C>A (p.Gln1650Lys)
c.4906C>A (p.Gln1636Lys)
c.4903C>A (p.Gln1635Lys)
c.4819C>A (p.Gln1607Lys)
2g.229787544A>CCA431535005TRIP12c.4779T>G (p.Ser1593=)
c.4788T>G (p.Ser1596=)
c.4956T>G (p.Ser1652=)
c.4815T>G (p.Ser1605=)
c.*3120T>G (n.*3120T>G)
c.4830T>G (p.Ser1610=)
c.4944T>G (p.Ser1648=)
c.610T>G
c.*2440T>G (n.*2440T>G)
c.4679T>G
c.4734T>G (p.Ser1578=)
c.4959T>G (p.Ser1653=)
c.4731T>G (p.Ser1577=)
c.4875T>G (p.Ser1625=)
c.3921T>G (p.Ser1307=)
c.4878T>G (p.Ser1626=)
c.4872T>G (p.Ser1624=)
c.4833T>G (p.Ser1611=)
c.4749T>G (p.Ser1583=)
c.4941T>G (p.Ser1647=)
c.4854T>G (p.Ser1618=)
c.4860T>G (p.Ser1620=)
c.4791T>G (p.Ser1597=)
c.5031T>G (p.Ser1677=)
c.5028T>G (p.Ser1676=)
c.4950T>G (p.Ser1650=)
c.4947T>G (p.Ser1649=)
c.4905T>G (p.Ser1635=)
c.4902T>G (p.Ser1634=)
c.4818T>G (p.Ser1606=)
2g.229787544A>GCA431535006TRIP12c.4779T>C (p.Ser1593=)
c.4788T>C (p.Ser1596=)
c.4956T>C (p.Ser1652=)
c.4815T>C (p.Ser1605=)
c.*3120T>C (n.*3120T>C)
c.4830T>C (p.Ser1610=)
c.4944T>C (p.Ser1648=)
c.610T>C
c.*2440T>C (n.*2440T>C)
c.4679T>C
c.4734T>C (p.Ser1578=)
c.4959T>C (p.Ser1653=)
c.4731T>C (p.Ser1577=)
c.4875T>C (p.Ser1625=)
c.3921T>C (p.Ser1307=)
c.4878T>C (p.Ser1626=)
c.4872T>C (p.Ser1624=)
c.4833T>C (p.Ser1611=)
c.4749T>C (p.Ser1583=)
c.4941T>C (p.Ser1647=)
c.4854T>C (p.Ser1618=)
c.4860T>C (p.Ser1620=)
c.4791T>C (p.Ser1597=)
c.5031T>C (p.Ser1677=)
c.5028T>C (p.Ser1676=)
c.4950T>C (p.Ser1650=)
c.4947T>C (p.Ser1649=)
c.4905T>C (p.Ser1635=)
c.4902T>C (p.Ser1634=)
c.4818T>C (p.Ser1606=)
2g.229787544A>TCA431535007TRIP12c.4779T>A (p.Ser1593=)
c.4788T>A (p.Ser1596=)
c.4956T>A (p.Ser1652=)
c.4815T>A (p.Ser1605=)
c.*3120T>A (n.*3120T>A)
c.4830T>A (p.Ser1610=)
c.4944T>A (p.Ser1648=)
c.610T>A
c.*2440T>A (n.*2440T>A)
c.4679T>A
c.4734T>A (p.Ser1578=)
c.4959T>A (p.Ser1653=)
c.4731T>A (p.Ser1577=)
c.4875T>A (p.Ser1625=)
c.3921T>A (p.Ser1307=)
c.4878T>A (p.Ser1626=)
c.4872T>A (p.Ser1624=)
c.4833T>A (p.Ser1611=)
c.4749T>A (p.Ser1583=)
c.4941T>A (p.Ser1647=)
c.4854T>A (p.Ser1618=)
c.4860T>A (p.Ser1620=)
c.4791T>A (p.Ser1597=)
c.5031T>A (p.Ser1677=)
c.5028T>A (p.Ser1676=)
c.4950T>A (p.Ser1650=)
c.4947T>A (p.Ser1649=)
c.4905T>A (p.Ser1635=)
c.4902T>A (p.Ser1634=)
c.4818T>A (p.Ser1606=)
2g.229787545G>ACA350892330TRIP12c.4778C>T (p.Ser1593Phe)
c.4787C>T (p.Ser1596Phe)
c.4955C>T (p.Ser1652Phe)
c.4814C>T (p.Ser1605Phe)
c.*3119C>T (n.*3119C>T)
c.4829C>T (p.Ser1610Phe)
c.4943C>T (p.Ser1648Phe)
c.609C>T
c.*2439C>T (n.*2439C>T)
c.4678C>T
c.4733C>T (p.Ser1578Phe)
c.4958C>T (p.Ser1653Phe)
c.4730C>T (p.Ser1577Phe)
c.4874C>T (p.Ser1625Phe)
c.3920C>T (p.Ser1307Phe)
c.4877C>T (p.Ser1626Phe)
c.4871C>T (p.Ser1624Phe)
c.4832C>T (p.Ser1611Phe)
c.4748C>T (p.Ser1583Phe)
c.4940C>T (p.Ser1647Phe)
c.4853C>T (p.Ser1618Phe)
c.4859C>T (p.Ser1620Phe)
c.4790C>T (p.Ser1597Phe)
c.5030C>T (p.Ser1677Phe)
c.5027C>T (p.Ser1676Phe)
c.4949C>T (p.Ser1650Phe)
c.4946C>T (p.Ser1649Phe)
c.4904C>T (p.Ser1635Phe)
c.4901C>T (p.Ser1634Phe)
c.4817C>T (p.Ser1606Phe)
2g.229787545G>CCA350892332TRIP12c.4778C>G (p.Ser1593Cys)
c.4787C>G (p.Ser1596Cys)
c.4955C>G (p.Ser1652Cys)
c.4814C>G (p.Ser1605Cys)
c.*3119C>G (n.*3119C>G)
c.4829C>G (p.Ser1610Cys)
c.4943C>G (p.Ser1648Cys)
c.609C>G
c.*2439C>G (n.*2439C>G)
c.4678C>G
c.4733C>G (p.Ser1578Cys)
c.4958C>G (p.Ser1653Cys)
c.4730C>G (p.Ser1577Cys)
c.4874C>G (p.Ser1625Cys)
c.3920C>G (p.Ser1307Cys)
c.4877C>G (p.Ser1626Cys)
c.4871C>G (p.Ser1624Cys)
c.4832C>G (p.Ser1611Cys)
c.4748C>G (p.Ser1583Cys)
c.4940C>G (p.Ser1647Cys)
c.4853C>G (p.Ser1618Cys)
c.4859C>G (p.Ser1620Cys)
c.4790C>G (p.Ser1597Cys)
c.5030C>G (p.Ser1677Cys)
c.5027C>G (p.Ser1676Cys)
c.4949C>G (p.Ser1650Cys)
c.4946C>G (p.Ser1649Cys)
c.4904C>G (p.Ser1635Cys)
c.4901C>G (p.Ser1634Cys)
c.4817C>G (p.Ser1606Cys)
 gnomAD v4
2g.229787545G>TCA350892334TRIP12c.4778C>A (p.Ser1593Tyr)
c.4787C>A (p.Ser1596Tyr)
c.4955C>A (p.Ser1652Tyr)
c.4814C>A (p.Ser1605Tyr)
c.*3119C>A (n.*3119C>A)
c.4829C>A (p.Ser1610Tyr)
c.4943C>A (p.Ser1648Tyr)
c.609C>A
c.*2439C>A (n.*2439C>A)
c.4678C>A
c.4733C>A (p.Ser1578Tyr)
c.4958C>A (p.Ser1653Tyr)
c.4730C>A (p.Ser1577Tyr)
c.4874C>A (p.Ser1625Tyr)
c.3920C>A (p.Ser1307Tyr)
c.4877C>A (p.Ser1626Tyr)
c.4871C>A (p.Ser1624Tyr)
c.4832C>A (p.Ser1611Tyr)
c.4748C>A (p.Ser1583Tyr)
c.4940C>A (p.Ser1647Tyr)
c.4853C>A (p.Ser1618Tyr)
c.4859C>A (p.Ser1620Tyr)
c.4790C>A (p.Ser1597Tyr)
c.5030C>A (p.Ser1677Tyr)
c.5027C>A (p.Ser1676Tyr)
c.4949C>A (p.Ser1650Tyr)
c.4946C>A (p.Ser1649Tyr)
c.4904C>A (p.Ser1635Tyr)
c.4901C>A (p.Ser1634Tyr)
c.4817C>A (p.Ser1606Tyr)
2g.229787546A>CCA350892336TRIP12c.4777T>G (p.Ser1593Ala)
c.4786T>G (p.Ser1596Ala)
c.4954T>G (p.Ser1652Ala)
c.4813T>G (p.Ser1605Ala)
c.*3118T>G (n.*3118T>G)
c.4828T>G (p.Ser1610Ala)
c.4942T>G (p.Ser1648Ala)
c.608T>G
c.*2438T>G (n.*2438T>G)
c.4677T>G
c.4732T>G (p.Ser1578Ala)
c.4957T>G (p.Ser1653Ala)
c.4729T>G (p.Ser1577Ala)
c.4873T>G (p.Ser1625Ala)
c.3919T>G (p.Ser1307Ala)
c.4876T>G (p.Ser1626Ala)
c.4870T>G (p.Ser1624Ala)
c.4831T>G (p.Ser1611Ala)
c.4747T>G (p.Ser1583Ala)
c.4939T>G (p.Ser1647Ala)
c.4852T>G (p.Ser1618Ala)
c.4858T>G (p.Ser1620Ala)
c.4789T>G (p.Ser1597Ala)
c.5029T>G (p.Ser1677Ala)
c.5026T>G (p.Ser1676Ala)
c.4948T>G (p.Ser1650Ala)
c.4945T>G (p.Ser1649Ala)
c.4903T>G (p.Ser1635Ala)
c.4900T>G (p.Ser1634Ala)
c.4816T>G (p.Ser1606Ala)
2g.229787546A>GCA350892355TRIP12c.4777T>C (p.Ser1593Pro)
c.4786T>C (p.Ser1596Pro)
c.4954T>C (p.Ser1652Pro)
c.4813T>C (p.Ser1605Pro)
c.*3118T>C (n.*3118T>C)
c.4828T>C (p.Ser1610Pro)
c.4942T>C (p.Ser1648Pro)
c.608T>C
c.*2438T>C (n.*2438T>C)
c.4677T>C
c.4732T>C (p.Ser1578Pro)
c.4957T>C (p.Ser1653Pro)
c.4729T>C (p.Ser1577Pro)
c.4873T>C (p.Ser1625Pro)
c.3919T>C (p.Ser1307Pro)
c.4876T>C (p.Ser1626Pro)
c.4870T>C (p.Ser1624Pro)
c.4831T>C (p.Ser1611Pro)
c.4747T>C (p.Ser1583Pro)
c.4939T>C (p.Ser1647Pro)
c.4852T>C (p.Ser1618Pro)
c.4858T>C (p.Ser1620Pro)
c.4789T>C (p.Ser1597Pro)
c.5029T>C (p.Ser1677Pro)
c.5026T>C (p.Ser1676Pro)
c.4948T>C (p.Ser1650Pro)
c.4945T>C (p.Ser1649Pro)
c.4903T>C (p.Ser1635Pro)
c.4900T>C (p.Ser1634Pro)
c.4816T>C (p.Ser1606Pro)
2g.229787546A>TCA350892357TRIP12c.4777T>A (p.Ser1593Thr)
c.4786T>A (p.Ser1596Thr)
c.4954T>A (p.Ser1652Thr)
c.4813T>A (p.Ser1605Thr)
c.*3118T>A (n.*3118T>A)
c.4828T>A (p.Ser1610Thr)
c.4942T>A (p.Ser1648Thr)
c.608T>A
c.*2438T>A (n.*2438T>A)
c.4677T>A
c.4732T>A (p.Ser1578Thr)
c.4957T>A (p.Ser1653Thr)
c.4729T>A (p.Ser1577Thr)
c.4873T>A (p.Ser1625Thr)
c.3919T>A (p.Ser1307Thr)
c.4876T>A (p.Ser1626Thr)
c.4870T>A (p.Ser1624Thr)
c.4831T>A (p.Ser1611Thr)
c.4747T>A (p.Ser1583Thr)
c.4939T>A (p.Ser1647Thr)
c.4852T>A (p.Ser1618Thr)
c.4858T>A (p.Ser1620Thr)
c.4789T>A (p.Ser1597Thr)
c.5029T>A (p.Ser1677Thr)
c.5026T>A (p.Ser1676Thr)
c.4948T>A (p.Ser1650Thr)
c.4945T>A (p.Ser1649Thr)
c.4903T>A (p.Ser1635Thr)
c.4900T>A (p.Ser1634Thr)
c.4816T>A (p.Ser1606Thr)
2g.229787547A>CCA350892363TRIP12c.4776T>G (p.Asp1592Glu)
c.4785T>G (p.Asp1595Glu)
c.4953T>G (p.Asp1651Glu)
c.4812T>G (p.Asp1604Glu)
c.*3117T>G (n.*3117T>G)
c.4827T>G (p.Asp1609Glu)
c.4941T>G (p.Asp1647Glu)
c.607T>G
c.*2437T>G (n.*2437T>G)
c.4676T>G
c.4731T>G (p.Asp1577Glu)
c.4956T>G (p.Asp1652Glu)
c.4728T>G (p.Asp1576Glu)
c.4872T>G (p.Asp1624Glu)
c.3918T>G (p.Asp1306Glu)
c.4875T>G (p.Asp1625Glu)
c.4869T>G (p.Asp1623Glu)
c.4830T>G (p.Asp1610Glu)
c.4746T>G (p.Asp1582Glu)
c.4938T>G (p.Asp1646Glu)
c.4851T>G (p.Asp1617Glu)
c.4857T>G (p.Asp1619Glu)
c.4788T>G (p.Asp1596Glu)
c.5028T>G (p.Asp1676Glu)
c.5025T>G (p.Asp1675Glu)
c.4947T>G (p.Asp1649Glu)
c.4944T>G (p.Asp1648Glu)
c.4902T>G (p.Asp1634Glu)
c.4899T>G (p.Asp1633Glu)
c.4815T>G (p.Asp1605Glu)
2g.229787547A>GCA431535008TRIP12c.4776T>C (p.Asp1592=)
c.4785T>C (p.Asp1595=)
c.4953T>C (p.Asp1651=)
c.4812T>C (p.Asp1604=)
c.*3117T>C (n.*3117T>C)
c.4827T>C (p.Asp1609=)
c.4941T>C (p.Asp1647=)
c.607T>C
c.*2437T>C (n.*2437T>C)
c.4676T>C
c.4731T>C (p.Asp1577=)
c.4956T>C (p.Asp1652=)
c.4728T>C (p.Asp1576=)
c.4872T>C (p.Asp1624=)
c.3918T>C (p.Asp1306=)
c.4875T>C (p.Asp1625=)
c.4869T>C (p.Asp1623=)
c.4830T>C (p.Asp1610=)
c.4746T>C (p.Asp1582=)
c.4938T>C (p.Asp1646=)
c.4851T>C (p.Asp1617=)
c.4857T>C (p.Asp1619=)
c.4788T>C (p.Asp1596=)
c.5028T>C (p.Asp1676=)
c.5025T>C (p.Asp1675=)
c.4947T>C (p.Asp1649=)
c.4944T>C (p.Asp1648=)
c.4902T>C (p.Asp1634=)
c.4899T>C (p.Asp1633=)
c.4815T>C (p.Asp1605=)
2g.229787547A>TCA350892366TRIP12c.4776T>A (p.Asp1592Glu)
c.4785T>A (p.Asp1595Glu)
c.4953T>A (p.Asp1651Glu)
c.4812T>A (p.Asp1604Glu)
c.*3117T>A (n.*3117T>A)
c.4827T>A (p.Asp1609Glu)
c.4941T>A (p.Asp1647Glu)
c.607T>A
c.*2437T>A (n.*2437T>A)
c.4676T>A
c.4731T>A (p.Asp1577Glu)
c.4956T>A (p.Asp1652Glu)
c.4728T>A (p.Asp1576Glu)
c.4872T>A (p.Asp1624Glu)
c.3918T>A (p.Asp1306Glu)
c.4875T>A (p.Asp1625Glu)
c.4869T>A (p.Asp1623Glu)
c.4830T>A (p.Asp1610Glu)
c.4746T>A (p.Asp1582Glu)
c.4938T>A (p.Asp1646Glu)
c.4851T>A (p.Asp1617Glu)
c.4857T>A (p.Asp1619Glu)
c.4788T>A (p.Asp1596Glu)
c.5028T>A (p.Asp1676Glu)
c.5025T>A (p.Asp1675Glu)
c.4947T>A (p.Asp1649Glu)
c.4944T>A (p.Asp1648Glu)
c.4902T>A (p.Asp1634Glu)
c.4899T>A (p.Asp1633Glu)
c.4815T>A (p.Asp1605Glu)
2g.229787548T>ACA350892368TRIP12c.4775A>T (p.Asp1592Val)
c.4784A>T (p.Asp1595Val)
c.4952A>T (p.Asp1651Val)
c.4811A>T (p.Asp1604Val)
c.*3116A>T (n.*3116A>T)
c.4826A>T (p.Asp1609Val)
c.4940A>T (p.Asp1647Val)
c.606A>T
c.*2436A>T (n.*2436A>T)
c.4675A>T
c.4730A>T (p.Asp1577Val)
c.4955A>T (p.Asp1652Val)
c.4727A>T (p.Asp1576Val)
c.4871A>T (p.Asp1624Val)
c.3917A>T (p.Asp1306Val)
c.4874A>T (p.Asp1625Val)
c.4868A>T (p.Asp1623Val)
c.4829A>T (p.Asp1610Val)
c.4745A>T (p.Asp1582Val)
c.4937A>T (p.Asp1646Val)
c.4850A>T (p.Asp1617Val)
c.4856A>T (p.Asp1619Val)
c.4787A>T (p.Asp1596Val)
c.5027A>T (p.Asp1676Val)
c.5024A>T (p.Asp1675Val)
c.4946A>T (p.Asp1649Val)
c.4943A>T (p.Asp1648Val)
c.4901A>T (p.Asp1634Val)
c.4898A>T (p.Asp1633Val)
c.4814A>T (p.Asp1605Val)
2g.229787548T>CCA350892369TRIP12c.4775A>G (p.Asp1592Gly)
c.4784A>G (p.Asp1595Gly)
c.4952A>G (p.Asp1651Gly)
c.4811A>G (p.Asp1604Gly)
c.*3116A>G (n.*3116A>G)
c.4826A>G (p.Asp1609Gly)
c.4940A>G (p.Asp1647Gly)
c.606A>G
c.*2436A>G (n.*2436A>G)
c.4675A>G
c.4730A>G (p.Asp1577Gly)
c.4955A>G (p.Asp1652Gly)
c.4727A>G (p.Asp1576Gly)
c.4871A>G (p.Asp1624Gly)
c.3917A>G (p.Asp1306Gly)
c.4874A>G (p.Asp1625Gly)
c.4868A>G (p.Asp1623Gly)
c.4829A>G (p.Asp1610Gly)
c.4745A>G (p.Asp1582Gly)
c.4937A>G (p.Asp1646Gly)
c.4850A>G (p.Asp1617Gly)
c.4856A>G (p.Asp1619Gly)
c.4787A>G (p.Asp1596Gly)
c.5027A>G (p.Asp1676Gly)
c.5024A>G (p.Asp1675Gly)
c.4946A>G (p.Asp1649Gly)
c.4943A>G (p.Asp1648Gly)
c.4901A>G (p.Asp1634Gly)
c.4898A>G (p.Asp1633Gly)
c.4814A>G (p.Asp1605Gly)
2g.229787548T>GCA350892370TRIP12c.4775A>C (p.Asp1592Ala)
c.4784A>C (p.Asp1595Ala)
c.4952A>C (p.Asp1651Ala)
c.4811A>C (p.Asp1604Ala)
c.*3116A>C (n.*3116A>C)
c.4826A>C (p.Asp1609Ala)
c.4940A>C (p.Asp1647Ala)
c.606A>C
c.*2436A>C (n.*2436A>C)
c.4675A>C
c.4730A>C (p.Asp1577Ala)
c.4955A>C (p.Asp1652Ala)
c.4727A>C (p.Asp1576Ala)
c.4871A>C (p.Asp1624Ala)
c.3917A>C (p.Asp1306Ala)
c.4874A>C (p.Asp1625Ala)
c.4868A>C (p.Asp1623Ala)
c.4829A>C (p.Asp1610Ala)
c.4745A>C (p.Asp1582Ala)
c.4937A>C (p.Asp1646Ala)
c.4850A>C (p.Asp1617Ala)
c.4856A>C (p.Asp1619Ala)
c.4787A>C (p.Asp1596Ala)
c.5027A>C (p.Asp1676Ala)
c.5024A>C (p.Asp1675Ala)
c.4946A>C (p.Asp1649Ala)
c.4943A>C (p.Asp1648Ala)
c.4901A>C (p.Asp1634Ala)
c.4898A>C (p.Asp1633Ala)
c.4814A>C (p.Asp1605Ala)
2g.229787549C>ACA350892375TRIP12c.4774G>T (p.Asp1592Tyr)
c.4783G>T (p.Asp1595Tyr)
c.4951G>T (p.Asp1651Tyr)
c.4810G>T (p.Asp1604Tyr)
c.*3115G>T (n.*3115G>T)
c.4825G>T (p.Asp1609Tyr)
c.4939G>T (p.Asp1647Tyr)
c.605G>T
c.*2435G>T (n.*2435G>T)
c.4674G>T
c.4729G>T (p.Asp1577Tyr)
c.4954G>T (p.Asp1652Tyr)
c.4726G>T (p.Asp1576Tyr)
c.4870G>T (p.Asp1624Tyr)
c.3916G>T (p.Asp1306Tyr)
c.4873G>T (p.Asp1625Tyr)
c.4867G>T (p.Asp1623Tyr)
c.4828G>T (p.Asp1610Tyr)
c.4744G>T (p.Asp1582Tyr)
c.4936G>T (p.Asp1646Tyr)
c.4849G>T (p.Asp1617Tyr)
c.4855G>T (p.Asp1619Tyr)
c.4786G>T (p.Asp1596Tyr)
c.5026G>T (p.Asp1676Tyr)
c.5023G>T (p.Asp1675Tyr)
c.4945G>T (p.Asp1649Tyr)
c.4942G>T (p.Asp1648Tyr)
c.4900G>T (p.Asp1634Tyr)
c.4897G>T (p.Asp1633Tyr)
c.4813G>T (p.Asp1605Tyr)
2g.229787549C>GCA350892371TRIP12c.4774G>C (p.Asp1592His)
c.4783G>C (p.Asp1595His)
c.4951G>C (p.Asp1651His)
c.4810G>C (p.Asp1604His)
c.*3115G>C (n.*3115G>C)
c.4825G>C (p.Asp1609His)
c.4939G>C (p.Asp1647His)
c.605G>C
c.*2435G>C (n.*2435G>C)
c.4674G>C
c.4729G>C (p.Asp1577His)
c.4954G>C (p.Asp1652His)
c.4726G>C (p.Asp1576His)
c.4870G>C (p.Asp1624His)
c.3916G>C (p.Asp1306His)
c.4873G>C (p.Asp1625His)
c.4867G>C (p.Asp1623His)
c.4828G>C (p.Asp1610His)
c.4744G>C (p.Asp1582His)
c.4936G>C (p.Asp1646His)
c.4849G>C (p.Asp1617His)
c.4855G>C (p.Asp1619His)
c.4786G>C (p.Asp1596His)
c.5026G>C (p.Asp1676His)
c.5023G>C (p.Asp1675His)
c.4945G>C (p.Asp1649His)
c.4942G>C (p.Asp1648His)
c.4900G>C (p.Asp1634His)
c.4897G>C (p.Asp1633His)
c.4813G>C (p.Asp1605His)
2g.229787549C>TCA350892372TRIP12c.4774G>A (p.Asp1592Asn)
c.4783G>A (p.Asp1595Asn)
c.4951G>A (p.Asp1651Asn)
c.4810G>A (p.Asp1604Asn)
c.*3115G>A (n.*3115G>A)
c.4825G>A (p.Asp1609Asn)
c.4939G>A (p.Asp1647Asn)
c.605G>A
c.*2435G>A (n.*2435G>A)
c.4674G>A
c.4729G>A (p.Asp1577Asn)
c.4954G>A (p.Asp1652Asn)
c.4726G>A (p.Asp1576Asn)
c.4870G>A (p.Asp1624Asn)
c.3916G>A (p.Asp1306Asn)
c.4873G>A (p.Asp1625Asn)
c.4867G>A (p.Asp1623Asn)
c.4828G>A (p.Asp1610Asn)
c.4744G>A (p.Asp1582Asn)
c.4936G>A (p.Asp1646Asn)
c.4849G>A (p.Asp1617Asn)
c.4855G>A (p.Asp1619Asn)
c.4786G>A (p.Asp1596Asn)
c.5026G>A (p.Asp1676Asn)
c.5023G>A (p.Asp1675Asn)
c.4945G>A (p.Asp1649Asn)
c.4942G>A (p.Asp1648Asn)
c.4900G>A (p.Asp1634Asn)
c.4897G>A (p.Asp1633Asn)
c.4813G>A (p.Asp1605Asn)
2g.229787550A=CA1334026967TRIP12c.4773T= (p.Ser1591=)
c.4782T= (p.Ser1594=)
c.4950T= (p.Ser1650=)
c.4809T= (p.Ser1603=)
c.*3114T= (n.*3114T=)
c.4824T= (p.Ser1608=)
c.4938T= (p.Ser1646=)
c.604T=
c.*2434T= (n.*2434T=)
c.4673T=
c.4728T= (p.Ser1576=)
c.4953T= (p.Ser1651=)
c.4725T= (p.Ser1575=)
c.4869T= (p.Ser1623=)
c.3915T= (p.Ser1305=)
c.4872T= (p.Ser1624=)
c.4866T= (p.Ser1622=)
c.4827T= (p.Ser1609=)
c.4743T= (p.Ser1581=)
c.4935T= (p.Ser1645=)
c.4848T= (p.Ser1616=)
c.4854T= (p.Ser1618=)
c.4785T= (p.Ser1595=)
c.5025T= (p.Ser1675=)
c.5022T= (p.Ser1674=)
c.4944T= (p.Ser1648=)
c.4941T= (p.Ser1647=)
c.4899T= (p.Ser1633=)
c.4896T= (p.Ser1632=)
c.4812T= (p.Ser1604=)
2g.229787550A>CCA431535009TRIP12c.4773T>G (p.Ser1591=)
c.4782T>G (p.Ser1594=)
c.4950T>G (p.Ser1650=)
c.4809T>G (p.Ser1603=)
c.*3114T>G (n.*3114T>G)
c.4824T>G (p.Ser1608=)
c.4938T>G (p.Ser1646=)
c.604T>G
c.*2434T>G (n.*2434T>G)
c.4673T>G
c.4728T>G (p.Ser1576=)
c.4953T>G (p.Ser1651=)
c.4725T>G (p.Ser1575=)
c.4869T>G (p.Ser1623=)
c.3915T>G (p.Ser1305=)
c.4872T>G (p.Ser1624=)
c.4866T>G (p.Ser1622=)
c.4827T>G (p.Ser1609=)
c.4743T>G (p.Ser1581=)
c.4935T>G (p.Ser1645=)
c.4848T>G (p.Ser1616=)
c.4854T>G (p.Ser1618=)
c.4785T>G (p.Ser1595=)
c.5025T>G (p.Ser1675=)
c.5022T>G (p.Ser1674=)
c.4944T>G (p.Ser1648=)
c.4941T>G (p.Ser1647=)
c.4899T>G (p.Ser1633=)
c.4896T>G (p.Ser1632=)
c.4812T>G (p.Ser1604=)
2g.229787550A>GCA431535010TRIP12c.4773T>C (p.Ser1591=)
c.4782T>C (p.Ser1594=)
c.4950T>C (p.Ser1650=)
c.4809T>C (p.Ser1603=)
c.*3114T>C (n.*3114T>C)
c.4824T>C (p.Ser1608=)
c.4938T>C (p.Ser1646=)
c.604T>C
c.*2434T>C (n.*2434T>C)
c.4673T>C
c.4728T>C (p.Ser1576=)
c.4953T>C (p.Ser1651=)
c.4725T>C (p.Ser1575=)
c.4869T>C (p.Ser1623=)
c.3915T>C (p.Ser1305=)
c.4872T>C (p.Ser1624=)
c.4866T>C (p.Ser1622=)
c.4827T>C (p.Ser1609=)
c.4743T>C (p.Ser1581=)
c.4935T>C (p.Ser1645=)
c.4848T>C (p.Ser1616=)
c.4854T>C (p.Ser1618=)
c.4785T>C (p.Ser1595=)
c.5025T>C (p.Ser1675=)
c.5022T>C (p.Ser1674=)
c.4944T>C (p.Ser1648=)
c.4941T>C (p.Ser1647=)
c.4899T>C (p.Ser1633=)
c.4896T>C (p.Ser1632=)
c.4812T>C (p.Ser1604=)
 dbSNP gnomAD v4
2g.229787550A>TCA431535011TRIP12c.4773T>A (p.Ser1591=)
c.4782T>A (p.Ser1594=)
c.4950T>A (p.Ser1650=)
c.4809T>A (p.Ser1603=)
c.*3114T>A (n.*3114T>A)
c.4824T>A (p.Ser1608=)
c.4938T>A (p.Ser1646=)
c.604T>A
c.*2434T>A (n.*2434T>A)
c.4673T>A
c.4728T>A (p.Ser1576=)
c.4953T>A (p.Ser1651=)
c.4725T>A (p.Ser1575=)
c.4869T>A (p.Ser1623=)
c.3915T>A (p.Ser1305=)
c.4872T>A (p.Ser1624=)
c.4866T>A (p.Ser1622=)
c.4827T>A (p.Ser1609=)
c.4743T>A (p.Ser1581=)
c.4935T>A (p.Ser1645=)
c.4848T>A (p.Ser1616=)
c.4854T>A (p.Ser1618=)
c.4785T>A (p.Ser1595=)
c.5025T>A (p.Ser1675=)
c.5022T>A (p.Ser1674=)
c.4944T>A (p.Ser1648=)
c.4941T>A (p.Ser1647=)
c.4899T>A (p.Ser1633=)
c.4896T>A (p.Ser1632=)
c.4812T>A (p.Ser1604=)
2g.229787551G>ACA350892378TRIP12c.4772C>T (p.Ser1591Phe)
c.4781C>T (p.Ser1594Phe)
c.4949C>T (p.Ser1650Phe)
c.4808C>T (p.Ser1603Phe)
c.*3113C>T (n.*3113C>T)
c.4823C>T (p.Ser1608Phe)
c.4937C>T (p.Ser1646Phe)
c.603C>T
c.*2433C>T (n.*2433C>T)
c.4672C>T
c.4727C>T (p.Ser1576Phe)
c.4952C>T (p.Ser1651Phe)
c.4724C>T (p.Ser1575Phe)
c.4868C>T (p.Ser1623Phe)
c.3914C>T (p.Ser1305Phe)
c.4871C>T (p.Ser1624Phe)
c.4865C>T (p.Ser1622Phe)
c.4826C>T (p.Ser1609Phe)
c.4742C>T (p.Ser1581Phe)
c.4934C>T (p.Ser1645Phe)
c.4847C>T (p.Ser1616Phe)
c.4853C>T (p.Ser1618Phe)
c.4784C>T (p.Ser1595Phe)
c.5024C>T (p.Ser1675Phe)
c.5021C>T (p.Ser1674Phe)
c.4943C>T (p.Ser1648Phe)
c.4940C>T (p.Ser1647Phe)
c.4898C>T (p.Ser1633Phe)
c.4895C>T (p.Ser1632Phe)
c.4811C>T (p.Ser1604Phe)
 dbSNP
2g.229787551G>CCA350892382TRIP12c.4772C>G (p.Ser1591Cys)
c.4781C>G (p.Ser1594Cys)
c.4949C>G (p.Ser1650Cys)
c.4808C>G (p.Ser1603Cys)
c.*3113C>G (n.*3113C>G)
c.4823C>G (p.Ser1608Cys)
c.4937C>G (p.Ser1646Cys)
c.603C>G
c.*2433C>G (n.*2433C>G)
c.4672C>G
c.4727C>G (p.Ser1576Cys)
c.4952C>G (p.Ser1651Cys)
c.4724C>G (p.Ser1575Cys)
c.4868C>G (p.Ser1623Cys)
c.3914C>G (p.Ser1305Cys)
c.4871C>G (p.Ser1624Cys)
c.4865C>G (p.Ser1622Cys)
c.4826C>G (p.Ser1609Cys)
c.4742C>G (p.Ser1581Cys)
c.4934C>G (p.Ser1645Cys)
c.4847C>G (p.Ser1616Cys)
c.4853C>G (p.Ser1618Cys)
c.4784C>G (p.Ser1595Cys)
c.5024C>G (p.Ser1675Cys)
c.5021C>G (p.Ser1674Cys)
c.4943C>G (p.Ser1648Cys)
c.4940C>G (p.Ser1647Cys)
c.4898C>G (p.Ser1633Cys)
c.4895C>G (p.Ser1632Cys)
c.4811C>G (p.Ser1604Cys)
2g.229787551G=CA1334026968TRIP12c.4772C= (p.Ser1591=)
c.4781C= (p.Ser1594=)
c.4949C= (p.Ser1650=)
c.4808C= (p.Ser1603=)
c.*3113C= (n.*3113C=)
c.4823C= (p.Ser1608=)
c.4937C= (p.Ser1646=)
c.603C=
c.*2433C= (n.*2433C=)
c.4672C=
c.4727C= (p.Ser1576=)
c.4952C= (p.Ser1651=)
c.4724C= (p.Ser1575=)
c.4868C= (p.Ser1623=)
c.3914C= (p.Ser1305=)
c.4871C= (p.Ser1624=)
c.4865C= (p.Ser1622=)
c.4826C= (p.Ser1609=)
c.4742C= (p.Ser1581=)
c.4934C= (p.Ser1645=)
c.4847C= (p.Ser1616=)
c.4853C= (p.Ser1618=)
c.4784C= (p.Ser1595=)
c.5024C= (p.Ser1675=)
c.5021C= (p.Ser1674=)
c.4943C= (p.Ser1648=)
c.4940C= (p.Ser1647=)
c.4898C= (p.Ser1633=)
c.4895C= (p.Ser1632=)
c.4811C= (p.Ser1604=)
2g.229787551G>TCA350892383TRIP12c.4772C>A (p.Ser1591Tyr)
c.4781C>A (p.Ser1594Tyr)
c.4949C>A (p.Ser1650Tyr)
c.4808C>A (p.Ser1603Tyr)
c.*3113C>A (n.*3113C>A)
c.4823C>A (p.Ser1608Tyr)
c.4937C>A (p.Ser1646Tyr)
c.603C>A
c.*2433C>A (n.*2433C>A)
c.4672C>A
c.4727C>A (p.Ser1576Tyr)
c.4952C>A (p.Ser1651Tyr)
c.4724C>A (p.Ser1575Tyr)
c.4868C>A (p.Ser1623Tyr)
c.3914C>A (p.Ser1305Tyr)
c.4871C>A (p.Ser1624Tyr)
c.4865C>A (p.Ser1622Tyr)
c.4826C>A (p.Ser1609Tyr)
c.4742C>A (p.Ser1581Tyr)
c.4934C>A (p.Ser1645Tyr)
c.4847C>A (p.Ser1616Tyr)
c.4853C>A (p.Ser1618Tyr)
c.4784C>A (p.Ser1595Tyr)
c.5024C>A (p.Ser1675Tyr)
c.5021C>A (p.Ser1674Tyr)
c.4943C>A (p.Ser1648Tyr)
c.4940C>A (p.Ser1647Tyr)
c.4898C>A (p.Ser1633Tyr)
c.4895C>A (p.Ser1632Tyr)
c.4811C>A (p.Ser1604Tyr)
2g.229787552A>CCA350892386TRIP12c.4771T>G (p.Ser1591Ala)
c.4780T>G (p.Ser1594Ala)
c.4948T>G (p.Ser1650Ala)
c.4807T>G (p.Ser1603Ala)
c.*3112T>G (n.*3112T>G)
c.4822T>G (p.Ser1608Ala)
c.4936T>G (p.Ser1646Ala)
c.602T>G
c.*2432T>G (n.*2432T>G)
c.4671T>G
c.4726T>G (p.Ser1576Ala)
c.4951T>G (p.Ser1651Ala)
c.4723T>G (p.Ser1575Ala)
c.4867T>G (p.Ser1623Ala)
c.3913T>G (p.Ser1305Ala)
c.4870T>G (p.Ser1624Ala)
c.4864T>G (p.Ser1622Ala)
c.4825T>G (p.Ser1609Ala)
c.4741T>G (p.Ser1581Ala)
c.4933T>G (p.Ser1645Ala)
c.4846T>G (p.Ser1616Ala)
c.4852T>G (p.Ser1618Ala)
c.4783T>G (p.Ser1595Ala)
c.5023T>G (p.Ser1675Ala)
c.5020T>G (p.Ser1674Ala)
c.4942T>G (p.Ser1648Ala)
c.4939T>G (p.Ser1647Ala)
c.4897T>G (p.Ser1633Ala)
c.4894T>G (p.Ser1632Ala)
c.4810T>G (p.Ser1604Ala)
2g.229787552A>GCA350892389TRIP12c.4771T>C (p.Ser1591Pro)
c.4780T>C (p.Ser1594Pro)
c.4948T>C (p.Ser1650Pro)
c.4807T>C (p.Ser1603Pro)
c.*3112T>C (n.*3112T>C)
c.4822T>C (p.Ser1608Pro)
c.4936T>C (p.Ser1646Pro)
c.602T>C
c.*2432T>C (n.*2432T>C)
c.4671T>C
c.4726T>C (p.Ser1576Pro)
c.4951T>C (p.Ser1651Pro)
c.4723T>C (p.Ser1575Pro)
c.4867T>C (p.Ser1623Pro)
c.3913T>C (p.Ser1305Pro)
c.4870T>C (p.Ser1624Pro)
c.4864T>C (p.Ser1622Pro)
c.4825T>C (p.Ser1609Pro)
c.4741T>C (p.Ser1581Pro)
c.4933T>C (p.Ser1645Pro)
c.4846T>C (p.Ser1616Pro)
c.4852T>C (p.Ser1618Pro)
c.4783T>C (p.Ser1595Pro)
c.5023T>C (p.Ser1675Pro)
c.5020T>C (p.Ser1674Pro)
c.4942T>C (p.Ser1648Pro)
c.4939T>C (p.Ser1647Pro)
c.4897T>C (p.Ser1633Pro)
c.4894T>C (p.Ser1632Pro)
c.4810T>C (p.Ser1604Pro)
2g.229787552A>TCA350892394TRIP12c.4771T>A (p.Ser1591Thr)
c.4780T>A (p.Ser1594Thr)
c.4948T>A (p.Ser1650Thr)
c.4807T>A (p.Ser1603Thr)
c.*3112T>A (n.*3112T>A)
c.4822T>A (p.Ser1608Thr)
c.4936T>A (p.Ser1646Thr)
c.602T>A
c.*2432T>A (n.*2432T>A)
c.4671T>A
c.4726T>A (p.Ser1576Thr)
c.4951T>A (p.Ser1651Thr)
c.4723T>A (p.Ser1575Thr)
c.4867T>A (p.Ser1623Thr)
c.3913T>A (p.Ser1305Thr)
c.4870T>A (p.Ser1624Thr)
c.4864T>A (p.Ser1622Thr)
c.4825T>A (p.Ser1609Thr)
c.4741T>A (p.Ser1581Thr)
c.4933T>A (p.Ser1645Thr)
c.4846T>A (p.Ser1616Thr)
c.4852T>A (p.Ser1618Thr)
c.4783T>A (p.Ser1595Thr)
c.5023T>A (p.Ser1675Thr)
c.5020T>A (p.Ser1674Thr)
c.4942T>A (p.Ser1648Thr)
c.4939T>A (p.Ser1647Thr)
c.4897T>A (p.Ser1633Thr)
c.4894T>A (p.Ser1632Thr)
c.4810T>A (p.Ser1604Thr)
2g.229787553C>ACA350892400TRIP12c.4770G>T (p.Gln1590His)
c.4779G>T (p.Gln1593His)
c.4947G>T (p.Gln1649His)
c.4806G>T (p.Gln1602His)
c.*3111G>T (n.*3111G>T)
c.4821G>T (p.Gln1607His)
c.4935G>T (p.Gln1645His)
c.601G>T
c.*2431G>T (n.*2431G>T)
c.4670G>T
c.4725G>T (p.Gln1575His)
c.4950G>T (p.Gln1650His)
c.4722G>T (p.Gln1574His)
c.4866G>T (p.Gln1622His)
c.3912G>T (p.Gln1304His)
c.4869G>T (p.Gln1623His)
c.4863G>T (p.Gln1621His)
c.4824G>T (p.Gln1608His)
c.4740G>T (p.Gln1580His)
c.4932G>T (p.Gln1644His)
c.4845G>T (p.Gln1615His)
c.4851G>T (p.Gln1617His)
c.4782G>T (p.Gln1594His)
c.5022G>T (p.Gln1674His)
c.5019G>T (p.Gln1673His)
c.4941G>T (p.Gln1647His)
c.4938G>T (p.Gln1646His)
c.4896G>T (p.Gln1632His)
c.4893G>T (p.Gln1631His)
c.4809G>T (p.Gln1603His)
2g.229787553C=CA1334026969TRIP12c.4770G= (p.Gln1590=)
c.4779G= (p.Gln1593=)
c.4947G= (p.Gln1649=)
c.4806G= (p.Gln1602=)
c.*3111G= (n.*3111G=)
c.4821G= (p.Gln1607=)
c.4935G= (p.Gln1645=)
c.601G=
c.*2431G= (n.*2431G=)
c.4670G=
c.4725G= (p.Gln1575=)
c.4950G= (p.Gln1650=)
c.4722G= (p.Gln1574=)
c.4866G= (p.Gln1622=)
c.3912G= (p.Gln1304=)
c.4869G= (p.Gln1623=)
c.4863G= (p.Gln1621=)
c.4824G= (p.Gln1608=)
c.4740G= (p.Gln1580=)
c.4932G= (p.Gln1644=)
c.4845G= (p.Gln1615=)
c.4851G= (p.Gln1617=)
c.4782G= (p.Gln1594=)
c.5022G= (p.Gln1674=)
c.5019G= (p.Gln1673=)
c.4941G= (p.Gln1647=)
c.4938G= (p.Gln1646=)
c.4896G= (p.Gln1632=)
c.4893G= (p.Gln1631=)
c.4809G= (p.Gln1603=)
2g.229787553C>GCA350892402TRIP12c.4770G>C (p.Gln1590His)
c.4779G>C (p.Gln1593His)
c.4947G>C (p.Gln1649His)
c.4806G>C (p.Gln1602His)
c.*3111G>C (n.*3111G>C)
c.4821G>C (p.Gln1607His)
c.4935G>C (p.Gln1645His)
c.601G>C
c.*2431G>C (n.*2431G>C)
c.4670G>C
c.4725G>C (p.Gln1575His)
c.4950G>C (p.Gln1650His)
c.4722G>C (p.Gln1574His)
c.4866G>C (p.Gln1622His)
c.3912G>C (p.Gln1304His)
c.4869G>C (p.Gln1623His)
c.4863G>C (p.Gln1621His)
c.4824G>C (p.Gln1608His)
c.4740G>C (p.Gln1580His)
c.4932G>C (p.Gln1644His)
c.4845G>C (p.Gln1615His)
c.4851G>C (p.Gln1617His)
c.4782G>C (p.Gln1594His)
c.5022G>C (p.Gln1674His)
c.5019G>C (p.Gln1673His)
c.4941G>C (p.Gln1647His)
c.4938G>C (p.Gln1646His)
c.4896G>C (p.Gln1632His)
c.4893G>C (p.Gln1631His)
c.4809G>C (p.Gln1603His)
 dbSNP
2g.229787553C>TCA431535012TRIP12c.4770G>A (p.Gln1590=)
c.4779G>A (p.Gln1593=)
c.4947G>A (p.Gln1649=)
c.4806G>A (p.Gln1602=)
c.*3111G>A (n.*3111G>A)
c.4821G>A (p.Gln1607=)
c.4935G>A (p.Gln1645=)
c.601G>A
c.*2431G>A (n.*2431G>A)
c.4670G>A
c.4725G>A (p.Gln1575=)
c.4950G>A (p.Gln1650=)
c.4722G>A (p.Gln1574=)
c.4866G>A (p.Gln1622=)
c.3912G>A (p.Gln1304=)
c.4869G>A (p.Gln1623=)
c.4863G>A (p.Gln1621=)
c.4824G>A (p.Gln1608=)
c.4740G>A (p.Gln1580=)
c.4932G>A (p.Gln1644=)
c.4845G>A (p.Gln1615=)
c.4851G>A (p.Gln1617=)
c.4782G>A (p.Gln1594=)
c.5022G>A (p.Gln1674=)
c.5019G>A (p.Gln1673=)
c.4941G>A (p.Gln1647=)
c.4938G>A (p.Gln1646=)
c.4896G>A (p.Gln1632=)
c.4893G>A (p.Gln1631=)
c.4809G>A (p.Gln1603=)
2g.229787554T>ACA350892406TRIP12c.4769A>T (p.Gln1590Leu)
c.4778A>T (p.Gln1593Leu)
c.4946A>T (p.Gln1649Leu)
c.4805A>T (p.Gln1602Leu)
c.*3110A>T (n.*3110A>T)
c.4820A>T (p.Gln1607Leu)
c.4934A>T (p.Gln1645Leu)
c.600A>T
c.*2430A>T (n.*2430A>T)
c.4669A>T
c.4724A>T (p.Gln1575Leu)
c.4949A>T (p.Gln1650Leu)
c.4721A>T (p.Gln1574Leu)
c.4865A>T (p.Gln1622Leu)
c.3911A>T (p.Gln1304Leu)
c.4868A>T (p.Gln1623Leu)
c.4862A>T (p.Gln1621Leu)
c.4823A>T (p.Gln1608Leu)
c.4739A>T (p.Gln1580Leu)
c.4931A>T (p.Gln1644Leu)
c.4844A>T (p.Gln1615Leu)
c.4850A>T (p.Gln1617Leu)
c.4781A>T (p.Gln1594Leu)
c.5021A>T (p.Gln1674Leu)
c.5018A>T (p.Gln1673Leu)
c.4940A>T (p.Gln1647Leu)
c.4937A>T (p.Gln1646Leu)
c.4895A>T (p.Gln1632Leu)
c.4892A>T (p.Gln1631Leu)
c.4808A>T (p.Gln1603Leu)
2g.229787554T>CCA350892417TRIP12c.4769A>G (p.Gln1590Arg)
c.4778A>G (p.Gln1593Arg)
c.4946A>G (p.Gln1649Arg)
c.4805A>G (p.Gln1602Arg)
c.*3110A>G (n.*3110A>G)
c.4820A>G (p.Gln1607Arg)
c.4934A>G (p.Gln1645Arg)
c.600A>G
c.*2430A>G (n.*2430A>G)
c.4669A>G
c.4724A>G (p.Gln1575Arg)
c.4949A>G (p.Gln1650Arg)
c.4721A>G (p.Gln1574Arg)
c.4865A>G (p.Gln1622Arg)
c.3911A>G (p.Gln1304Arg)
c.4868A>G (p.Gln1623Arg)
c.4862A>G (p.Gln1621Arg)
c.4823A>G (p.Gln1608Arg)
c.4739A>G (p.Gln1580Arg)
c.4931A>G (p.Gln1644Arg)
c.4844A>G (p.Gln1615Arg)
c.4850A>G (p.Gln1617Arg)
c.4781A>G (p.Gln1594Arg)
c.5021A>G (p.Gln1674Arg)
c.5018A>G (p.Gln1673Arg)
c.4940A>G (p.Gln1647Arg)
c.4937A>G (p.Gln1646Arg)
c.4895A>G (p.Gln1632Arg)
c.4892A>G (p.Gln1631Arg)
c.4808A>G (p.Gln1603Arg)
2g.229787554T>GCA350892419TRIP12c.4769A>C (p.Gln1590Pro)
c.4778A>C (p.Gln1593Pro)
c.4946A>C (p.Gln1649Pro)
c.4805A>C (p.Gln1602Pro)
c.*3110A>C (n.*3110A>C)
c.4820A>C (p.Gln1607Pro)
c.4934A>C (p.Gln1645Pro)
c.600A>C
c.*2430A>C (n.*2430A>C)
c.4669A>C
c.4724A>C (p.Gln1575Pro)
c.4949A>C (p.Gln1650Pro)
c.4721A>C (p.Gln1574Pro)
c.4865A>C (p.Gln1622Pro)
c.3911A>C (p.Gln1304Pro)
c.4868A>C (p.Gln1623Pro)
c.4862A>C (p.Gln1621Pro)
c.4823A>C (p.Gln1608Pro)
c.4739A>C (p.Gln1580Pro)
c.4931A>C (p.Gln1644Pro)
c.4844A>C (p.Gln1615Pro)
c.4850A>C (p.Gln1617Pro)
c.4781A>C (p.Gln1594Pro)
c.5021A>C (p.Gln1674Pro)
c.5018A>C (p.Gln1673Pro)
c.4940A>C (p.Gln1647Pro)
c.4937A>C (p.Gln1646Pro)
c.4895A>C (p.Gln1632Pro)
c.4892A>C (p.Gln1631Pro)
c.4808A>C (p.Gln1603Pro)
2g.229787555G>ACA350892426TRIP12c.4768C>T (p.Gln1590Ter)
c.4777C>T (p.Gln1593Ter)
c.4945C>T (p.Gln1649Ter)
c.4804C>T (p.Gln1602Ter)
c.*3109C>T (n.*3109C>T)
c.4819C>T (p.Gln1607Ter)
c.4933C>T (p.Gln1645Ter)
c.599C>T
c.*2429C>T (n.*2429C>T)
c.4668C>T
c.4723C>T (p.Gln1575Ter)
c.4948C>T (p.Gln1650Ter)
c.4720C>T (p.Gln1574Ter)
c.4864C>T (p.Gln1622Ter)
c.3910C>T (p.Gln1304Ter)
c.4867C>T (p.Gln1623Ter)
c.4861C>T (p.Gln1621Ter)
c.4822C>T (p.Gln1608Ter)
c.4738C>T (p.Gln1580Ter)
c.4930C>T (p.Gln1644Ter)
c.4843C>T (p.Gln1615Ter)
c.4849C>T (p.Gln1617Ter)
c.4780C>T (p.Gln1594Ter)
c.5020C>T (p.Gln1674Ter)
c.5017C>T (p.Gln1673Ter)
c.4939C>T (p.Gln1647Ter)
c.4936C>T (p.Gln1646Ter)
c.4894C>T (p.Gln1632Ter)
c.4891C>T (p.Gln1631Ter)
c.4807C>T (p.Gln1603Ter)
2g.229787555G>CCA350892428TRIP12c.4768C>G (p.Gln1590Glu)
c.4777C>G (p.Gln1593Glu)
c.4945C>G (p.Gln1649Glu)
c.4804C>G (p.Gln1602Glu)
c.*3109C>G (n.*3109C>G)
c.4819C>G (p.Gln1607Glu)
c.4933C>G (p.Gln1645Glu)
c.599C>G
c.*2429C>G (n.*2429C>G)
c.4668C>G
c.4723C>G (p.Gln1575Glu)
c.4948C>G (p.Gln1650Glu)
c.4720C>G (p.Gln1574Glu)
c.4864C>G (p.Gln1622Glu)
c.3910C>G (p.Gln1304Glu)
c.4867C>G (p.Gln1623Glu)
c.4861C>G (p.Gln1621Glu)
c.4822C>G (p.Gln1608Glu)
c.4738C>G (p.Gln1580Glu)
c.4930C>G (p.Gln1644Glu)
c.4843C>G (p.Gln1615Glu)
c.4849C>G (p.Gln1617Glu)
c.4780C>G (p.Gln1594Glu)
c.5020C>G (p.Gln1674Glu)
c.5017C>G (p.Gln1673Glu)
c.4939C>G (p.Gln1647Glu)
c.4936C>G (p.Gln1646Glu)
c.4894C>G (p.Gln1632Glu)
c.4891C>G (p.Gln1631Glu)
c.4807C>G (p.Gln1603Glu)
2g.229787555G>TCA350892422TRIP12c.4768C>A (p.Gln1590Lys)
c.4777C>A (p.Gln1593Lys)
c.4945C>A (p.Gln1649Lys)
c.4804C>A (p.Gln1602Lys)
c.*3109C>A (n.*3109C>A)
c.4819C>A (p.Gln1607Lys)
c.4933C>A (p.Gln1645Lys)
c.599C>A
c.*2429C>A (n.*2429C>A)
c.4668C>A
c.4723C>A (p.Gln1575Lys)
c.4948C>A (p.Gln1650Lys)
c.4720C>A (p.Gln1574Lys)
c.4864C>A (p.Gln1622Lys)
c.3910C>A (p.Gln1304Lys)
c.4867C>A (p.Gln1623Lys)
c.4861C>A (p.Gln1621Lys)
c.4822C>A (p.Gln1608Lys)
c.4738C>A (p.Gln1580Lys)
c.4930C>A (p.Gln1644Lys)
c.4843C>A (p.Gln1615Lys)
c.4849C>A (p.Gln1617Lys)
c.4780C>A (p.Gln1594Lys)
c.5020C>A (p.Gln1674Lys)
c.5017C>A (p.Gln1673Lys)
c.4939C>A (p.Gln1647Lys)
c.4936C>A (p.Gln1646Lys)
c.4894C>A (p.Gln1632Lys)
c.4891C>A (p.Gln1631Lys)
c.4807C>A (p.Gln1603Lys)
2g.229787556G>ACA431535013TRIP12c.4767C>T (p.Asn1589=)
c.4776C>T (p.Asn1592=)
c.4944C>T (p.Asn1648=)
c.4803C>T (p.Asn1601=)
c.*3108C>T (n.*3108C>T)
c.4818C>T (p.Asn1606=)
c.4932C>T (p.Asn1644=)
c.598C>T
c.*2428C>T (n.*2428C>T)
c.4667C>T
c.4722C>T (p.Asn1574=)
c.4947C>T (p.Asn1649=)
c.4719C>T (p.Asn1573=)
c.4863C>T (p.Asn1621=)
c.3909C>T (p.Asn1303=)
c.4866C>T (p.Asn1622=)
c.4860C>T (p.Asn1620=)
c.4821C>T (p.Asn1607=)
c.4737C>T (p.Asn1579=)
c.4929C>T (p.Asn1643=)
c.4842C>T (p.Asn1614=)
c.4848C>T (p.Asn1616=)
c.4779C>T (p.Asn1593=)
c.5019C>T (p.Asn1673=)
c.5016C>T (p.Asn1672=)
c.4938C>T (p.Asn1646=)
c.4935C>T (p.Asn1645=)
c.4893C>T (p.Asn1631=)
c.4890C>T (p.Asn1630=)
c.4806C>T (p.Asn1602=)
2g.229787556G>CCA350892437TRIP12c.4767C>G (p.Asn1589Lys)
c.4776C>G (p.Asn1592Lys)
c.4944C>G (p.Asn1648Lys)
c.4803C>G (p.Asn1601Lys)
c.*3108C>G (n.*3108C>G)
c.4818C>G (p.Asn1606Lys)
c.4932C>G (p.Asn1644Lys)
c.598C>G
c.*2428C>G (n.*2428C>G)
c.4667C>G
c.4722C>G (p.Asn1574Lys)
c.4947C>G (p.Asn1649Lys)
c.4719C>G (p.Asn1573Lys)
c.4863C>G (p.Asn1621Lys)
c.3909C>G (p.Asn1303Lys)
c.4866C>G (p.Asn1622Lys)
c.4860C>G (p.Asn1620Lys)
c.4821C>G (p.Asn1607Lys)
c.4737C>G (p.Asn1579Lys)
c.4929C>G (p.Asn1643Lys)
c.4842C>G (p.Asn1614Lys)
c.4848C>G (p.Asn1616Lys)
c.4779C>G (p.Asn1593Lys)
c.5019C>G (p.Asn1673Lys)
c.5016C>G (p.Asn1672Lys)
c.4938C>G (p.Asn1646Lys)
c.4935C>G (p.Asn1645Lys)
c.4893C>G (p.Asn1631Lys)
c.4890C>G (p.Asn1630Lys)
c.4806C>G (p.Asn1602Lys)
 gnomAD v4
2g.229787556G>TCA350892441TRIP12c.4767C>A (p.Asn1589Lys)
c.4776C>A (p.Asn1592Lys)
c.4944C>A (p.Asn1648Lys)
c.4803C>A (p.Asn1601Lys)
c.*3108C>A (n.*3108C>A)
c.4818C>A (p.Asn1606Lys)
c.4932C>A (p.Asn1644Lys)
c.598C>A
c.*2428C>A (n.*2428C>A)
c.4667C>A
c.4722C>A (p.Asn1574Lys)
c.4947C>A (p.Asn1649Lys)
c.4719C>A (p.Asn1573Lys)
c.4863C>A (p.Asn1621Lys)
c.3909C>A (p.Asn1303Lys)
c.4866C>A (p.Asn1622Lys)
c.4860C>A (p.Asn1620Lys)
c.4821C>A (p.Asn1607Lys)
c.4737C>A (p.Asn1579Lys)
c.4929C>A (p.Asn1643Lys)
c.4842C>A (p.Asn1614Lys)
c.4848C>A (p.Asn1616Lys)
c.4779C>A (p.Asn1593Lys)
c.5019C>A (p.Asn1673Lys)
c.5016C>A (p.Asn1672Lys)
c.4938C>A (p.Asn1646Lys)
c.4935C>A (p.Asn1645Lys)
c.4893C>A (p.Asn1631Lys)
c.4890C>A (p.Asn1630Lys)
c.4806C>A (p.Asn1602Lys)
2g.229787557T>ACA350892446TRIP12c.4766A>T (p.Asn1589Ile)
c.4775A>T (p.Asn1592Ile)
c.4943A>T (p.Asn1648Ile)
c.4802A>T (p.Asn1601Ile)
c.*3107A>T (n.*3107A>T)
c.4817A>T (p.Asn1606Ile)
c.4931A>T (p.Asn1644Ile)
c.597A>T
c.*2427A>T (n.*2427A>T)
c.4666A>T
c.4721A>T (p.Asn1574Ile)
c.4946A>T (p.Asn1649Ile)
c.4718A>T (p.Asn1573Ile)
c.4862A>T (p.Asn1621Ile)
c.3908A>T (p.Asn1303Ile)
c.4865A>T (p.Asn1622Ile)
c.4859A>T (p.Asn1620Ile)
c.4820A>T (p.Asn1607Ile)
c.4736A>T (p.Asn1579Ile)
c.4928A>T (p.Asn1643Ile)
c.4841A>T (p.Asn1614Ile)
c.4847A>T (p.Asn1616Ile)
c.4778A>T (p.Asn1593Ile)
c.5018A>T (p.Asn1673Ile)
c.5015A>T (p.Asn1672Ile)
c.4937A>T (p.Asn1646Ile)
c.4934A>T (p.Asn1645Ile)
c.4892A>T (p.Asn1631Ile)
c.4889A>T (p.Asn1630Ile)
c.4805A>T (p.Asn1602Ile)
2g.229787557T>CCA350892449TRIP12c.4766A>G (p.Asn1589Ser)
c.4775A>G (p.Asn1592Ser)
c.4943A>G (p.Asn1648Ser)
c.4802A>G (p.Asn1601Ser)
c.*3107A>G (n.*3107A>G)
c.4817A>G (p.Asn1606Ser)
c.4931A>G (p.Asn1644Ser)
c.597A>G
c.*2427A>G (n.*2427A>G)
c.4666A>G
c.4721A>G (p.Asn1574Ser)
c.4946A>G (p.Asn1649Ser)
c.4718A>G (p.Asn1573Ser)
c.4862A>G (p.Asn1621Ser)
c.3908A>G (p.Asn1303Ser)
c.4865A>G (p.Asn1622Ser)
c.4859A>G (p.Asn1620Ser)
c.4820A>G (p.Asn1607Ser)
c.4736A>G (p.Asn1579Ser)
c.4928A>G (p.Asn1643Ser)
c.4841A>G (p.Asn1614Ser)
c.4847A>G (p.Asn1616Ser)
c.4778A>G (p.Asn1593Ser)
c.5018A>G (p.Asn1673Ser)
c.5015A>G (p.Asn1672Ser)
c.4937A>G (p.Asn1646Ser)
c.4934A>G (p.Asn1645Ser)
c.4892A>G (p.Asn1631Ser)
c.4889A>G (p.Asn1630Ser)
c.4805A>G (p.Asn1602Ser)
2g.229787557T>GCA350892450TRIP12c.4766A>C (p.Asn1589Thr)
c.4775A>C (p.Asn1592Thr)
c.4943A>C (p.Asn1648Thr)
c.4802A>C (p.Asn1601Thr)
c.*3107A>C (n.*3107A>C)
c.4817A>C (p.Asn1606Thr)
c.4931A>C (p.Asn1644Thr)
c.597A>C
c.*2427A>C (n.*2427A>C)
c.4666A>C
c.4721A>C (p.Asn1574Thr)
c.4946A>C (p.Asn1649Thr)
c.4718A>C (p.Asn1573Thr)
c.4862A>C (p.Asn1621Thr)
c.3908A>C (p.Asn1303Thr)
c.4865A>C (p.Asn1622Thr)
c.4859A>C (p.Asn1620Thr)
c.4820A>C (p.Asn1607Thr)
c.4736A>C (p.Asn1579Thr)
c.4928A>C (p.Asn1643Thr)
c.4841A>C (p.Asn1614Thr)
c.4847A>C (p.Asn1616Thr)
c.4778A>C (p.Asn1593Thr)
c.5018A>C (p.Asn1673Thr)
c.5015A>C (p.Asn1672Thr)
c.4937A>C (p.Asn1646Thr)
c.4934A>C (p.Asn1645Thr)
c.4892A>C (p.Asn1631Thr)
c.4889A>C (p.Asn1630Thr)
c.4805A>C (p.Asn1602Thr)
2g.229787558T>ACA350892451TRIP12c.4765A>T (p.Asn1589Tyr)
c.4774A>T (p.Asn1592Tyr)
c.4942A>T (p.Asn1648Tyr)
c.4801A>T (p.Asn1601Tyr)
c.*3106A>T (n.*3106A>T)
c.4816A>T (p.Asn1606Tyr)
c.4930A>T (p.Asn1644Tyr)
c.596A>T
c.*2426A>T (n.*2426A>T)
c.4665A>T
c.4720A>T (p.Asn1574Tyr)
c.4945A>T (p.Asn1649Tyr)
c.4717A>T (p.Asn1573Tyr)
c.4861A>T (p.Asn1621Tyr)
c.3907A>T (p.Asn1303Tyr)
c.4864A>T (p.Asn1622Tyr)
c.4858A>T (p.Asn1620Tyr)
c.4819A>T (p.Asn1607Tyr)
c.4735A>T (p.Asn1579Tyr)
c.4927A>T (p.Asn1643Tyr)
c.4840A>T (p.Asn1614Tyr)
c.4846A>T (p.Asn1616Tyr)
c.4777A>T (p.Asn1593Tyr)
c.5017A>T (p.Asn1673Tyr)
c.5014A>T (p.Asn1672Tyr)
c.4936A>T (p.Asn1646Tyr)
c.4933A>T (p.Asn1645Tyr)
c.4891A>T (p.Asn1631Tyr)
c.4888A>T (p.Asn1630Tyr)
c.4804A>T (p.Asn1602Tyr)
2g.229787558T>CCA350892452TRIP12c.4765A>G (p.Asn1589Asp)
c.4774A>G (p.Asn1592Asp)
c.4942A>G (p.Asn1648Asp)
c.4801A>G (p.Asn1601Asp)
c.*3106A>G (n.*3106A>G)
c.4816A>G (p.Asn1606Asp)
c.4930A>G (p.Asn1644Asp)
c.596A>G
c.*2426A>G (n.*2426A>G)
c.4665A>G
c.4720A>G (p.Asn1574Asp)
c.4945A>G (p.Asn1649Asp)
c.4717A>G (p.Asn1573Asp)
c.4861A>G (p.Asn1621Asp)
c.3907A>G (p.Asn1303Asp)
c.4864A>G (p.Asn1622Asp)
c.4858A>G (p.Asn1620Asp)
c.4819A>G (p.Asn1607Asp)
c.4735A>G (p.Asn1579Asp)
c.4927A>G (p.Asn1643Asp)
c.4840A>G (p.Asn1614Asp)
c.4846A>G (p.Asn1616Asp)
c.4777A>G (p.Asn1593Asp)
c.5017A>G (p.Asn1673Asp)
c.5014A>G (p.Asn1672Asp)
c.4936A>G (p.Asn1646Asp)
c.4933A>G (p.Asn1645Asp)
c.4891A>G (p.Asn1631Asp)
c.4888A>G (p.Asn1630Asp)
c.4804A>G (p.Asn1602Asp)
 COSMIC
2g.229787558T>GCA350892453TRIP12c.4765A>C (p.Asn1589His)
c.4774A>C (p.Asn1592His)
c.4942A>C (p.Asn1648His)
c.4801A>C (p.Asn1601His)
c.*3106A>C (n.*3106A>C)
c.4816A>C (p.Asn1606His)
c.4930A>C (p.Asn1644His)
c.596A>C
c.*2426A>C (n.*2426A>C)
c.4665A>C
c.4720A>C (p.Asn1574His)
c.4945A>C (p.Asn1649His)
c.4717A>C (p.Asn1573His)
c.4861A>C (p.Asn1621His)
c.3907A>C (p.Asn1303His)
c.4864A>C (p.Asn1622His)
c.4858A>C (p.Asn1620His)
c.4819A>C (p.Asn1607His)
c.4735A>C (p.Asn1579His)
c.4927A>C (p.Asn1643His)
c.4840A>C (p.Asn1614His)
c.4846A>C (p.Asn1616His)
c.4777A>C (p.Asn1593His)
c.5017A>C (p.Asn1673His)
c.5014A>C (p.Asn1672His)
c.4936A>C (p.Asn1646His)
c.4933A>C (p.Asn1645His)
c.4891A>C (p.Asn1631His)
c.4888A>C (p.Asn1630His)
c.4804A>C (p.Asn1602His)
2g.229787559G>ACA431535014TRIP12c.4764C>T (p.Ile1588=)
c.4773C>T (p.Ile1591=)
c.4941C>T (p.Ile1647=)
c.4800C>T (p.Ile1600=)
c.*3105C>T (n.*3105C>T)
c.4815C>T (p.Ile1605=)
c.4929C>T (p.Ile1643=)
c.595C>T
c.*2425C>T (n.*2425C>T)
c.4664C>T
c.4719C>T (p.Ile1573=)
c.4944C>T (p.Ile1648=)
c.4716C>T (p.Ile1572=)
c.4860C>T (p.Ile1620=)
c.3906C>T (p.Ile1302=)
c.4863C>T (p.Ile1621=)
c.4857C>T (p.Ile1619=)
c.4818C>T (p.Ile1606=)
c.4734C>T (p.Ile1578=)
c.4926C>T (p.Ile1642=)
c.4839C>T (p.Ile1613=)
c.4845C>T (p.Ile1615=)
c.4776C>T (p.Ile1592=)
c.5016C>T (p.Ile1672=)
c.5013C>T (p.Ile1671=)
c.4935C>T (p.Ile1645=)
c.4932C>T (p.Ile1644=)
c.4890C>T (p.Ile1630=)
c.4887C>T (p.Ile1629=)
c.4803C>T (p.Ile1601=)
 COSMIC
2g.229787559G>CCA350892457TRIP12c.4764C>G (p.Ile1588Met)
c.4773C>G (p.Ile1591Met)
c.4941C>G (p.Ile1647Met)
c.4800C>G (p.Ile1600Met)
c.*3105C>G (n.*3105C>G)
c.4815C>G (p.Ile1605Met)
c.4929C>G (p.Ile1643Met)
c.595C>G
c.*2425C>G (n.*2425C>G)
c.4664C>G
c.4719C>G (p.Ile1573Met)
c.4944C>G (p.Ile1648Met)
c.4716C>G (p.Ile1572Met)
c.4860C>G (p.Ile1620Met)
c.3906C>G (p.Ile1302Met)
c.4863C>G (p.Ile1621Met)
c.4857C>G (p.Ile1619Met)
c.4818C>G (p.Ile1606Met)
c.4734C>G (p.Ile1578Met)
c.4926C>G (p.Ile1642Met)
c.4839C>G (p.Ile1613Met)
c.4845C>G (p.Ile1615Met)
c.4776C>G (p.Ile1592Met)
c.5016C>G (p.Ile1672Met)
c.5013C>G (p.Ile1671Met)
c.4935C>G (p.Ile1645Met)
c.4932C>G (p.Ile1644Met)
c.4890C>G (p.Ile1630Met)
c.4887C>G (p.Ile1629Met)
c.4803C>G (p.Ile1601Met)
2g.229787559G>TCA431535015TRIP12c.4764C>A (p.Ile1588=)
c.4773C>A (p.Ile1591=)
c.4941C>A (p.Ile1647=)
c.4800C>A (p.Ile1600=)
c.*3105C>A (n.*3105C>A)
c.4815C>A (p.Ile1605=)
c.4929C>A (p.Ile1643=)
c.595C>A
c.*2425C>A (n.*2425C>A)
c.4664C>A
c.4719C>A (p.Ile1573=)
c.4944C>A (p.Ile1648=)
c.4716C>A (p.Ile1572=)
c.4860C>A (p.Ile1620=)
c.3906C>A (p.Ile1302=)
c.4863C>A (p.Ile1621=)
c.4857C>A (p.Ile1619=)
c.4818C>A (p.Ile1606=)
c.4734C>A (p.Ile1578=)
c.4926C>A (p.Ile1642=)
c.4839C>A (p.Ile1613=)
c.4845C>A (p.Ile1615=)
c.4776C>A (p.Ile1592=)
c.5016C>A (p.Ile1672=)
c.5013C>A (p.Ile1671=)
c.4935C>A (p.Ile1645=)
c.4932C>A (p.Ile1644=)
c.4890C>A (p.Ile1630=)
c.4887C>A (p.Ile1629=)
c.4803C>A (p.Ile1601=)
2g.229787560A>CCA350892460TRIP12c.4763T>G (p.Ile1588Ser)
c.4772T>G (p.Ile1591Ser)
c.4940T>G (p.Ile1647Ser)
c.4799T>G (p.Ile1600Ser)
c.*3104T>G (n.*3104T>G)
c.4814T>G (p.Ile1605Ser)
c.4928T>G (p.Ile1643Ser)
c.594T>G
c.*2424T>G (n.*2424T>G)
c.4663T>G
c.4718T>G (p.Ile1573Ser)
c.4943T>G (p.Ile1648Ser)
c.4715T>G (p.Ile1572Ser)
c.4859T>G (p.Ile1620Ser)
c.3905T>G (p.Ile1302Ser)
c.4862T>G (p.Ile1621Ser)
c.4856T>G (p.Ile1619Ser)
c.4817T>G (p.Ile1606Ser)
c.4733T>G (p.Ile1578Ser)
c.4925T>G (p.Ile1642Ser)
c.4838T>G (p.Ile1613Ser)
c.4844T>G (p.Ile1615Ser)
c.4775T>G (p.Ile1592Ser)
c.5015T>G (p.Ile1672Ser)
c.5012T>G (p.Ile1671Ser)
c.4934T>G (p.Ile1645Ser)
c.4931T>G (p.Ile1644Ser)
c.4889T>G (p.Ile1630Ser)
c.4886T>G (p.Ile1629Ser)
c.4802T>G (p.Ile1601Ser)
2g.229787560A>GCA350892461TRIP12c.4763T>C (p.Ile1588Thr)
c.4772T>C (p.Ile1591Thr)
c.4940T>C (p.Ile1647Thr)
c.4799T>C (p.Ile1600Thr)
c.*3104T>C (n.*3104T>C)
c.4814T>C (p.Ile1605Thr)
c.4928T>C (p.Ile1643Thr)
c.594T>C
c.*2424T>C (n.*2424T>C)
c.4663T>C
c.4718T>C (p.Ile1573Thr)
c.4943T>C (p.Ile1648Thr)
c.4715T>C (p.Ile1572Thr)
c.4859T>C (p.Ile1620Thr)
c.3905T>C (p.Ile1302Thr)
c.4862T>C (p.Ile1621Thr)
c.4856T>C (p.Ile1619Thr)
c.4817T>C (p.Ile1606Thr)
c.4733T>C (p.Ile1578Thr)
c.4925T>C (p.Ile1642Thr)
c.4838T>C (p.Ile1613Thr)
c.4844T>C (p.Ile1615Thr)
c.4775T>C (p.Ile1592Thr)
c.5015T>C (p.Ile1672Thr)
c.5012T>C (p.Ile1671Thr)
c.4934T>C (p.Ile1645Thr)
c.4931T>C (p.Ile1644Thr)
c.4889T>C (p.Ile1630Thr)
c.4886T>C (p.Ile1629Thr)
c.4802T>C (p.Ile1601Thr)
2g.229787560A>TCA350892462TRIP12c.4763T>A (p.Ile1588Asn)
c.4772T>A (p.Ile1591Asn)
c.4940T>A (p.Ile1647Asn)
c.4799T>A (p.Ile1600Asn)
c.*3104T>A (n.*3104T>A)
c.4814T>A (p.Ile1605Asn)
c.4928T>A (p.Ile1643Asn)
c.594T>A
c.*2424T>A (n.*2424T>A)
c.4663T>A
c.4718T>A (p.Ile1573Asn)
c.4943T>A (p.Ile1648Asn)
c.4715T>A (p.Ile1572Asn)
c.4859T>A (p.Ile1620Asn)
c.3905T>A (p.Ile1302Asn)
c.4862T>A (p.Ile1621Asn)
c.4856T>A (p.Ile1619Asn)
c.4817T>A (p.Ile1606Asn)
c.4733T>A (p.Ile1578Asn)
c.4925T>A (p.Ile1642Asn)
c.4838T>A (p.Ile1613Asn)
c.4844T>A (p.Ile1615Asn)
c.4775T>A (p.Ile1592Asn)
c.5015T>A (p.Ile1672Asn)
c.5012T>A (p.Ile1671Asn)
c.4934T>A (p.Ile1645Asn)
c.4931T>A (p.Ile1644Asn)
c.4889T>A (p.Ile1630Asn)
c.4886T>A (p.Ile1629Asn)
c.4802T>A (p.Ile1601Asn)
2g.229787561T>ACA350892467TRIP12c.4762A>T (p.Ile1588Phe)
c.4771A>T (p.Ile1591Phe)
c.4939A>T (p.Ile1647Phe)
c.4798A>T (p.Ile1600Phe)
c.*3103A>T (n.*3103A>T)
c.4813A>T (p.Ile1605Phe)
c.4927A>T (p.Ile1643Phe)
c.593A>T
c.*2423A>T (n.*2423A>T)
c.4662A>T
c.4717A>T (p.Ile1573Phe)
c.4942A>T (p.Ile1648Phe)
c.4714A>T (p.Ile1572Phe)
c.4858A>T (p.Ile1620Phe)
c.3904A>T (p.Ile1302Phe)
c.4861A>T (p.Ile1621Phe)
c.4855A>T (p.Ile1619Phe)
c.4816A>T (p.Ile1606Phe)
c.4732A>T (p.Ile1578Phe)
c.4924A>T (p.Ile1642Phe)
c.4837A>T (p.Ile1613Phe)
c.4843A>T (p.Ile1615Phe)
c.4774A>T (p.Ile1592Phe)
c.5014A>T (p.Ile1672Phe)
c.5011A>T (p.Ile1671Phe)
c.4933A>T (p.Ile1645Phe)
c.4930A>T (p.Ile1644Phe)
c.4888A>T (p.Ile1630Phe)
c.4885A>T (p.Ile1629Phe)
c.4801A>T (p.Ile1601Phe)
2g.229787561T>CCA350892470TRIP12c.4762A>G (p.Ile1588Val)
c.4771A>G (p.Ile1591Val)
c.4939A>G (p.Ile1647Val)
c.4798A>G (p.Ile1600Val)
c.*3103A>G (n.*3103A>G)
c.4813A>G (p.Ile1605Val)
c.4927A>G (p.Ile1643Val)
c.593A>G
c.*2423A>G (n.*2423A>G)
c.4662A>G
c.4717A>G (p.Ile1573Val)
c.4942A>G (p.Ile1648Val)
c.4714A>G (p.Ile1572Val)
c.4858A>G (p.Ile1620Val)
c.3904A>G (p.Ile1302Val)
c.4861A>G (p.Ile1621Val)
c.4855A>G (p.Ile1619Val)
c.4816A>G (p.Ile1606Val)
c.4732A>G (p.Ile1578Val)
c.4924A>G (p.Ile1642Val)
c.4837A>G (p.Ile1613Val)
c.4843A>G (p.Ile1615Val)
c.4774A>G (p.Ile1592Val)
c.5014A>G (p.Ile1672Val)
c.5011A>G (p.Ile1671Val)
c.4933A>G (p.Ile1645Val)
c.4930A>G (p.Ile1644Val)
c.4888A>G (p.Ile1630Val)
c.4885A>G (p.Ile1629Val)
c.4801A>G (p.Ile1601Val)
 gnomAD v4
2g.229787561T>GCA350892463TRIP12c.4762A>C (p.Ile1588Leu)
c.4771A>C (p.Ile1591Leu)
c.4939A>C (p.Ile1647Leu)
c.4798A>C (p.Ile1600Leu)
c.*3103A>C (n.*3103A>C)
c.4813A>C (p.Ile1605Leu)
c.4927A>C (p.Ile1643Leu)
c.593A>C
c.*2423A>C (n.*2423A>C)
c.4662A>C
c.4717A>C (p.Ile1573Leu)
c.4942A>C (p.Ile1648Leu)
c.4714A>C (p.Ile1572Leu)
c.4858A>C (p.Ile1620Leu)
c.3904A>C (p.Ile1302Leu)
c.4861A>C (p.Ile1621Leu)
c.4855A>C (p.Ile1619Leu)
c.4816A>C (p.Ile1606Leu)
c.4732A>C (p.Ile1578Leu)
c.4924A>C (p.Ile1642Leu)
c.4837A>C (p.Ile1613Leu)
c.4843A>C (p.Ile1615Leu)
c.4774A>C (p.Ile1592Leu)
c.5014A>C (p.Ile1672Leu)
c.5011A>C (p.Ile1671Leu)
c.4933A>C (p.Ile1645Leu)
c.4930A>C (p.Ile1644Leu)
c.4888A>C (p.Ile1630Leu)
c.4885A>C (p.Ile1629Leu)
c.4801A>C (p.Ile1601Leu)
2g.229787562T>ACA350892482TRIP12c.4761A>T (p.Glu1587Asp)
c.4770A>T (p.Glu1590Asp)
c.4938A>T (p.Glu1646Asp)
c.4797A>T (p.Glu1599Asp)
c.*3102A>T (n.*3102A>T)
c.4812A>T (p.Glu1604Asp)
c.4926A>T (p.Glu1642Asp)
c.592A>T
c.*2422A>T (n.*2422A>T)
c.4661A>T
c.4716A>T (p.Glu1572Asp)
c.4941A>T (p.Glu1647Asp)
c.4713A>T (p.Glu1571Asp)
c.4857A>T (p.Glu1619Asp)
c.3903A>T (p.Glu1301Asp)
c.4860A>T (p.Glu1620Asp)
c.4854A>T (p.Glu1618Asp)
c.4815A>T (p.Glu1605Asp)
c.4731A>T (p.Glu1577Asp)
c.4923A>T (p.Glu1641Asp)
c.4836A>T (p.Glu1612Asp)
c.4842A>T (p.Glu1614Asp)
c.4773A>T (p.Glu1591Asp)
c.5013A>T (p.Glu1671Asp)
c.5010A>T (p.Glu1670Asp)
c.4932A>T (p.Glu1644Asp)
c.4929A>T (p.Glu1643Asp)
c.4887A>T (p.Glu1629Asp)
c.4884A>T (p.Glu1628Asp)
c.4800A>T (p.Glu1600Asp)
2g.229787562T>CCA431535016TRIP12c.4761A>G (p.Glu1587=)
c.4770A>G (p.Glu1590=)
c.4938A>G (p.Glu1646=)
c.4797A>G (p.Glu1599=)
c.*3102A>G (n.*3102A>G)
c.4812A>G (p.Glu1604=)
c.4926A>G (p.Glu1642=)
c.592A>G
c.*2422A>G (n.*2422A>G)
c.4661A>G
c.4716A>G (p.Glu1572=)
c.4941A>G (p.Glu1647=)
c.4713A>G (p.Glu1571=)
c.4857A>G (p.Glu1619=)
c.3903A>G (p.Glu1301=)
c.4860A>G (p.Glu1620=)
c.4854A>G (p.Glu1618=)
c.4815A>G (p.Glu1605=)
c.4731A>G (p.Glu1577=)
c.4923A>G (p.Glu1641=)
c.4836A>G (p.Glu1612=)
c.4842A>G (p.Glu1614=)
c.4773A>G (p.Glu1591=)
c.5013A>G (p.Glu1671=)
c.5010A>G (p.Glu1670=)
c.4932A>G (p.Glu1644=)
c.4929A>G (p.Glu1643=)
c.4887A>G (p.Glu1629=)
c.4884A>G (p.Glu1628=)
c.4800A>G (p.Glu1600=)
2g.229787562T>GCA350892483TRIP12c.4761A>C (p.Glu1587Asp)
c.4770A>C (p.Glu1590Asp)
c.4938A>C (p.Glu1646Asp)
c.4797A>C (p.Glu1599Asp)
c.*3102A>C (n.*3102A>C)
c.4812A>C (p.Glu1604Asp)
c.4926A>C (p.Glu1642Asp)
c.592A>C
c.*2422A>C (n.*2422A>C)
c.4661A>C
c.4716A>C (p.Glu1572Asp)
c.4941A>C (p.Glu1647Asp)
c.4713A>C (p.Glu1571Asp)
c.4857A>C (p.Glu1619Asp)
c.3903A>C (p.Glu1301Asp)
c.4860A>C (p.Glu1620Asp)
c.4854A>C (p.Glu1618Asp)
c.4815A>C (p.Glu1605Asp)
c.4731A>C (p.Glu1577Asp)
c.4923A>C (p.Glu1641Asp)
c.4836A>C (p.Glu1612Asp)
c.4842A>C (p.Glu1614Asp)
c.4773A>C (p.Glu1591Asp)
c.5013A>C (p.Glu1671Asp)
c.5010A>C (p.Glu1670Asp)
c.4932A>C (p.Glu1644Asp)
c.4929A>C (p.Glu1643Asp)
c.4887A>C (p.Glu1629Asp)
c.4884A>C (p.Glu1628Asp)
c.4800A>C (p.Glu1600Asp)
2g.229787563T>ACA350892486TRIP12c.4760A>T (p.Glu1587Val)
c.4769A>T (p.Glu1590Val)
c.4937A>T (p.Glu1646Val)
c.4796A>T (p.Glu1599Val)
c.*3101A>T (n.*3101A>T)
c.4811A>T (p.Glu1604Val)
c.4925A>T (p.Glu1642Val)
c.591A>T
c.*2421A>T (n.*2421A>T)
c.4660A>T
c.4715A>T (p.Glu1572Val)
c.4940A>T (p.Glu1647Val)
c.4712A>T (p.Glu1571Val)
c.4856A>T (p.Glu1619Val)
c.3902A>T (p.Glu1301Val)
c.4859A>T (p.Glu1620Val)
c.4853A>T (p.Glu1618Val)
c.4814A>T (p.Glu1605Val)
c.4730A>T (p.Glu1577Val)
c.4922A>T (p.Glu1641Val)
c.4835A>T (p.Glu1612Val)
c.4841A>T (p.Glu1614Val)
c.4772A>T (p.Glu1591Val)
c.5012A>T (p.Glu1671Val)
c.5009A>T (p.Glu1670Val)
c.4931A>T (p.Glu1644Val)
c.4928A>T (p.Glu1643Val)
c.4886A>T (p.Glu1629Val)
c.4883A>T (p.Glu1628Val)
c.4799A>T (p.Glu1600Val)
2g.229787563T>CCA350892488TRIP12c.4760A>G (p.Glu1587Gly)
c.4769A>G (p.Glu1590Gly)
c.4937A>G (p.Glu1646Gly)
c.4796A>G (p.Glu1599Gly)
c.*3101A>G (n.*3101A>G)
c.4811A>G (p.Glu1604Gly)
c.4925A>G (p.Glu1642Gly)
c.591A>G
c.*2421A>G (n.*2421A>G)
c.4660A>G
c.4715A>G (p.Glu1572Gly)
c.4940A>G (p.Glu1647Gly)
c.4712A>G (p.Glu1571Gly)
c.4856A>G (p.Glu1619Gly)
c.3902A>G (p.Glu1301Gly)
c.4859A>G (p.Glu1620Gly)
c.4853A>G (p.Glu1618Gly)
c.4814A>G (p.Glu1605Gly)
c.4730A>G (p.Glu1577Gly)
c.4922A>G (p.Glu1641Gly)
c.4835A>G (p.Glu1612Gly)
c.4841A>G (p.Glu1614Gly)
c.4772A>G (p.Glu1591Gly)
c.5012A>G (p.Glu1671Gly)
c.5009A>G (p.Glu1670Gly)
c.4931A>G (p.Glu1644Gly)
c.4928A>G (p.Glu1643Gly)
c.4886A>G (p.Glu1629Gly)
c.4883A>G (p.Glu1628Gly)
c.4799A>G (p.Glu1600Gly)
2g.229787563T>GCA350892491TRIP12c.4760A>C (p.Glu1587Ala)
c.4769A>C (p.Glu1590Ala)
c.4937A>C (p.Glu1646Ala)
c.4796A>C (p.Glu1599Ala)
c.*3101A>C (n.*3101A>C)
c.4811A>C (p.Glu1604Ala)
c.4925A>C (p.Glu1642Ala)
c.591A>C
c.*2421A>C (n.*2421A>C)
c.4660A>C
c.4715A>C (p.Glu1572Ala)
c.4940A>C (p.Glu1647Ala)
c.4712A>C (p.Glu1571Ala)
c.4856A>C (p.Glu1619Ala)
c.3902A>C (p.Glu1301Ala)
c.4859A>C (p.Glu1620Ala)
c.4853A>C (p.Glu1618Ala)
c.4814A>C (p.Glu1605Ala)
c.4730A>C (p.Glu1577Ala)
c.4922A>C (p.Glu1641Ala)
c.4835A>C (p.Glu1612Ala)
c.4841A>C (p.Glu1614Ala)
c.4772A>C (p.Glu1591Ala)
c.5012A>C (p.Glu1671Ala)
c.5009A>C (p.Glu1670Ala)
c.4931A>C (p.Glu1644Ala)
c.4928A>C (p.Glu1643Ala)
c.4886A>C (p.Glu1629Ala)
c.4883A>C (p.Glu1628Ala)
c.4799A>C (p.Glu1600Ala)
2g.229787564C>ACA350892501TRIP12c.4759G>T (p.Glu1587Ter)
c.4768G>T (p.Glu1590Ter)
c.4936G>T (p.Glu1646Ter)
c.4795G>T (p.Glu1599Ter)
c.*3100G>T (n.*3100G>T)
c.4810G>T (p.Glu1604Ter)
c.4924G>T (p.Glu1642Ter)
c.590G>T
c.*2420G>T (n.*2420G>T)
c.4659G>T
c.4714G>T (p.Glu1572Ter)
c.4939G>T (p.Glu1647Ter)
c.4711G>T (p.Glu1571Ter)
c.4855G>T (p.Glu1619Ter)
c.3901G>T (p.Glu1301Ter)
c.4858G>T (p.Glu1620Ter)
c.4852G>T (p.Glu1618Ter)
c.4813G>T (p.Glu1605Ter)
c.4729G>T (p.Glu1577Ter)
c.4921G>T (p.Glu1641Ter)
c.4834G>T (p.Glu1612Ter)
c.4840G>T (p.Glu1614Ter)
c.4771G>T (p.Glu1591Ter)
c.5011G>T (p.Glu1671Ter)
c.5008G>T (p.Glu1670Ter)
c.4930G>T (p.Glu1644Ter)
c.4927G>T (p.Glu1643Ter)
c.4885G>T (p.Glu1629Ter)
c.4882G>T (p.Glu1628Ter)
c.4798G>T (p.Glu1600Ter)
2g.229787564C>GCA350892495TRIP12c.4759G>C (p.Glu1587Gln)
c.4768G>C (p.Glu1590Gln)
c.4936G>C (p.Glu1646Gln)
c.4795G>C (p.Glu1599Gln)
c.*3100G>C (n.*3100G>C)
c.4810G>C (p.Glu1604Gln)
c.4924G>C (p.Glu1642Gln)
c.590G>C
c.*2420G>C (n.*2420G>C)
c.4659G>C
c.4714G>C (p.Glu1572Gln)
c.4939G>C (p.Glu1647Gln)
c.4711G>C (p.Glu1571Gln)
c.4855G>C (p.Glu1619Gln)
c.3901G>C (p.Glu1301Gln)
c.4858G>C (p.Glu1620Gln)
c.4852G>C (p.Glu1618Gln)
c.4813G>C (p.Glu1605Gln)
c.4729G>C (p.Glu1577Gln)
c.4921G>C (p.Glu1641Gln)
c.4834G>C (p.Glu1612Gln)
c.4840G>C (p.Glu1614Gln)
c.4771G>C (p.Glu1591Gln)
c.5011G>C (p.Glu1671Gln)
c.5008G>C (p.Glu1670Gln)
c.4930G>C (p.Glu1644Gln)
c.4927G>C (p.Glu1643Gln)
c.4885G>C (p.Glu1629Gln)
c.4882G>C (p.Glu1628Gln)
c.4798G>C (p.Glu1600Gln)
2g.229787564C>TCA350892498TRIP12c.4759G>A (p.Glu1587Lys)
c.4768G>A (p.Glu1590Lys)
c.4936G>A (p.Glu1646Lys)
c.4795G>A (p.Glu1599Lys)
c.*3100G>A (n.*3100G>A)
c.4810G>A (p.Glu1604Lys)
c.4924G>A (p.Glu1642Lys)
c.590G>A
c.*2420G>A (n.*2420G>A)
c.4659G>A
c.4714G>A (p.Glu1572Lys)
c.4939G>A (p.Glu1647Lys)
c.4711G>A (p.Glu1571Lys)
c.4855G>A (p.Glu1619Lys)
c.3901G>A (p.Glu1301Lys)
c.4858G>A (p.Glu1620Lys)
c.4852G>A (p.Glu1618Lys)
c.4813G>A (p.Glu1605Lys)
c.4729G>A (p.Glu1577Lys)
c.4921G>A (p.Glu1641Lys)
c.4834G>A (p.Glu1612Lys)
c.4840G>A (p.Glu1614Lys)
c.4771G>A (p.Glu1591Lys)
c.5011G>A (p.Glu1671Lys)
c.5008G>A (p.Glu1670Lys)
c.4930G>A (p.Glu1644Lys)
c.4927G>A (p.Glu1643Lys)
c.4885G>A (p.Glu1629Lys)
c.4882G>A (p.Glu1628Lys)
c.4798G>A (p.Glu1600Lys)
2g.229787565T>ACA431535017TRIP12c.4758A>T (p.Pro1586=)
c.4767A>T (p.Pro1589=)
c.4935A>T (p.Pro1645=)
c.4794A>T (p.Pro1598=)
c.*3099A>T (n.*3099A>T)
c.4809A>T (p.Pro1603=)
c.4923A>T (p.Pro1641=)
c.589A>T
c.*2419A>T (n.*2419A>T)
c.4658A>T
c.4713A>T (p.Pro1571=)
c.4938A>T (p.Pro1646=)
c.4710A>T (p.Pro1570=)
c.4854A>T (p.Pro1618=)
c.3900A>T (p.Pro1300=)
c.4857A>T (p.Pro1619=)
c.4851A>T (p.Pro1617=)
c.4812A>T (p.Pro1604=)
c.4728A>T (p.Pro1576=)
c.4920A>T (p.Pro1640=)
c.4833A>T (p.Pro1611=)
c.4839A>T (p.Pro1613=)
c.4770A>T (p.Pro1590=)
c.5010A>T (p.Pro1670=)
c.5007A>T (p.Pro1669=)
c.4929A>T (p.Pro1643=)
c.4926A>T (p.Pro1642=)
c.4884A>T (p.Pro1628=)
c.4881A>T (p.Pro1627=)
c.4797A>T (p.Pro1599=)
2g.229787565T>CCA431535019TRIP12c.4758A>G (p.Pro1586=)
c.4767A>G (p.Pro1589=)
c.4935A>G (p.Pro1645=)
c.4794A>G (p.Pro1598=)
c.*3099A>G (n.*3099A>G)
c.4809A>G (p.Pro1603=)
c.4923A>G (p.Pro1641=)
c.589A>G
c.*2419A>G (n.*2419A>G)
c.4658A>G
c.4713A>G (p.Pro1571=)
c.4938A>G (p.Pro1646=)
c.4710A>G (p.Pro1570=)
c.4854A>G (p.Pro1618=)
c.3900A>G (p.Pro1300=)
c.4857A>G (p.Pro1619=)
c.4851A>G (p.Pro1617=)
c.4812A>G (p.Pro1604=)
c.4728A>G (p.Pro1576=)
c.4920A>G (p.Pro1640=)
c.4833A>G (p.Pro1611=)
c.4839A>G (p.Pro1613=)
c.4770A>G (p.Pro1590=)
c.5010A>G (p.Pro1670=)
c.5007A>G (p.Pro1669=)
c.4929A>G (p.Pro1643=)
c.4926A>G (p.Pro1642=)
c.4884A>G (p.Pro1628=)
c.4881A>G (p.Pro1627=)
c.4797A>G (p.Pro1599=)
 gnomAD v4
2g.229787565T>GCA431535018TRIP12c.4758A>C (p.Pro1586=)
c.4767A>C (p.Pro1589=)
c.4935A>C (p.Pro1645=)
c.4794A>C (p.Pro1598=)
c.*3099A>C (n.*3099A>C)
c.4809A>C (p.Pro1603=)
c.4923A>C (p.Pro1641=)
c.589A>C
c.*2419A>C (n.*2419A>C)
c.4658A>C
c.4713A>C (p.Pro1571=)
c.4938A>C (p.Pro1646=)
c.4710A>C (p.Pro1570=)
c.4854A>C (p.Pro1618=)
c.3900A>C (p.Pro1300=)
c.4857A>C (p.Pro1619=)
c.4851A>C (p.Pro1617=)
c.4812A>C (p.Pro1604=)
c.4728A>C (p.Pro1576=)
c.4920A>C (p.Pro1640=)
c.4833A>C (p.Pro1611=)
c.4839A>C (p.Pro1613=)
c.4770A>C (p.Pro1590=)
c.5010A>C (p.Pro1670=)
c.5007A>C (p.Pro1669=)
c.4929A>C (p.Pro1643=)
c.4926A>C (p.Pro1642=)
c.4884A>C (p.Pro1628=)
c.4881A>C (p.Pro1627=)
c.4797A>C (p.Pro1599=)
2g.229787566G>ACA350892502TRIP12c.4757C>T (p.Pro1586Leu)
c.4766C>T (p.Pro1589Leu)
c.4934C>T (p.Pro1645Leu)
c.4793C>T (p.Pro1598Leu)
c.*3098C>T (n.*3098C>T)
c.4808C>T (p.Pro1603Leu)
c.4922C>T (p.Pro1641Leu)
c.588C>T
c.*2418C>T (n.*2418C>T)
c.4657C>T
c.4712C>T (p.Pro1571Leu)
c.4937C>T (p.Pro1646Leu)
c.4709C>T (p.Pro1570Leu)
c.4853C>T (p.Pro1618Leu)
c.3899C>T (p.Pro1300Leu)
c.4856C>T (p.Pro1619Leu)
c.4850C>T (p.Pro1617Leu)
c.4811C>T (p.Pro1604Leu)
c.4727C>T (p.Pro1576Leu)
c.4919C>T (p.Pro1640Leu)
c.4832C>T (p.Pro1611Leu)
c.4838C>T (p.Pro1613Leu)
c.4769C>T (p.Pro1590Leu)
c.5009C>T (p.Pro1670Leu)
c.5006C>T (p.Pro1669Leu)
c.4928C>T (p.Pro1643Leu)
c.4925C>T (p.Pro1642Leu)
c.4883C>T (p.Pro1628Leu)
c.4880C>T (p.Pro1627Leu)
c.4796C>T (p.Pro1599Leu)
2g.229787566G>CCA350892504TRIP12c.4757C>G (p.Pro1586Arg)
c.4766C>G (p.Pro1589Arg)
c.4934C>G (p.Pro1645Arg)
c.4793C>G (p.Pro1598Arg)
c.*3098C>G (n.*3098C>G)
c.4808C>G (p.Pro1603Arg)
c.4922C>G (p.Pro1641Arg)
c.588C>G
c.*2418C>G (n.*2418C>G)
c.4657C>G
c.4712C>G (p.Pro1571Arg)
c.4937C>G (p.Pro1646Arg)
c.4709C>G (p.Pro1570Arg)
c.4853C>G (p.Pro1618Arg)
c.3899C>G (p.Pro1300Arg)
c.4856C>G (p.Pro1619Arg)
c.4850C>G (p.Pro1617Arg)
c.4811C>G (p.Pro1604Arg)
c.4727C>G (p.Pro1576Arg)
c.4919C>G (p.Pro1640Arg)
c.4832C>G (p.Pro1611Arg)
c.4838C>G (p.Pro1613Arg)
c.4769C>G (p.Pro1590Arg)
c.5009C>G (p.Pro1670Arg)
c.5006C>G (p.Pro1669Arg)
c.4928C>G (p.Pro1643Arg)
c.4925C>G (p.Pro1642Arg)
c.4883C>G (p.Pro1628Arg)
c.4880C>G (p.Pro1627Arg)
c.4796C>G (p.Pro1599Arg)
2g.229787566G>TCA350892506TRIP12c.4757C>A (p.Pro1586Gln)
c.4766C>A (p.Pro1589Gln)
c.4934C>A (p.Pro1645Gln)
c.4793C>A (p.Pro1598Gln)
c.*3098C>A (n.*3098C>A)
c.4808C>A (p.Pro1603Gln)
c.4922C>A (p.Pro1641Gln)
c.588C>A
c.*2418C>A (n.*2418C>A)
c.4657C>A
c.4712C>A (p.Pro1571Gln)
c.4937C>A (p.Pro1646Gln)
c.4709C>A (p.Pro1570Gln)
c.4853C>A (p.Pro1618Gln)
c.3899C>A (p.Pro1300Gln)
c.4856C>A (p.Pro1619Gln)
c.4850C>A (p.Pro1617Gln)
c.4811C>A (p.Pro1604Gln)
c.4727C>A (p.Pro1576Gln)
c.4919C>A (p.Pro1640Gln)
c.4832C>A (p.Pro1611Gln)
c.4838C>A (p.Pro1613Gln)
c.4769C>A (p.Pro1590Gln)
c.5009C>A (p.Pro1670Gln)
c.5006C>A (p.Pro1669Gln)
c.4928C>A (p.Pro1643Gln)
c.4925C>A (p.Pro1642Gln)
c.4883C>A (p.Pro1628Gln)
c.4880C>A (p.Pro1627Gln)
c.4796C>A (p.Pro1599Gln)
2g.229787567G>ACA350892508TRIP12c.4756C>T (p.Pro1586Ser)
c.4765C>T (p.Pro1589Ser)
c.4933C>T (p.Pro1645Ser)
c.4792C>T (p.Pro1598Ser)
c.*3097C>T (n.*3097C>T)
c.4807C>T (p.Pro1603Ser)
c.4921C>T (p.Pro1641Ser)
c.587C>T
c.*2417C>T (n.*2417C>T)
c.4656C>T
c.4711C>T (p.Pro1571Ser)
c.4936C>T (p.Pro1646Ser)
c.4708C>T (p.Pro1570Ser)
c.4852C>T (p.Pro1618Ser)
c.3898C>T (p.Pro1300Ser)
c.4855C>T (p.Pro1619Ser)
c.4849C>T (p.Pro1617Ser)
c.4810C>T (p.Pro1604Ser)
c.4726C>T (p.Pro1576Ser)
c.4918C>T (p.Pro1640Ser)
c.4831C>T (p.Pro1611Ser)
c.4837C>T (p.Pro1613Ser)
c.4768C>T (p.Pro1590Ser)
c.5008C>T (p.Pro1670Ser)
c.5005C>T (p.Pro1669Ser)
c.4927C>T (p.Pro1643Ser)
c.4924C>T (p.Pro1642Ser)
c.4882C>T (p.Pro1628Ser)
c.4879C>T (p.Pro1627Ser)
c.4795C>T (p.Pro1599Ser)
2g.229787567G>CCA350892510TRIP12c.4756C>G (p.Pro1586Ala)
c.4765C>G (p.Pro1589Ala)
c.4933C>G (p.Pro1645Ala)
c.4792C>G (p.Pro1598Ala)
c.*3097C>G (n.*3097C>G)
c.4807C>G (p.Pro1603Ala)
c.4921C>G (p.Pro1641Ala)
c.587C>G
c.*2417C>G (n.*2417C>G)
c.4656C>G
c.4711C>G (p.Pro1571Ala)
c.4936C>G (p.Pro1646Ala)
c.4708C>G (p.Pro1570Ala)
c.4852C>G (p.Pro1618Ala)
c.3898C>G (p.Pro1300Ala)
c.4855C>G (p.Pro1619Ala)
c.4849C>G (p.Pro1617Ala)
c.4810C>G (p.Pro1604Ala)
c.4726C>G (p.Pro1576Ala)
c.4918C>G (p.Pro1640Ala)
c.4831C>G (p.Pro1611Ala)
c.4837C>G (p.Pro1613Ala)
c.4768C>G (p.Pro1590Ala)
c.5008C>G (p.Pro1670Ala)
c.5005C>G (p.Pro1669Ala)
c.4927C>G (p.Pro1643Ala)
c.4924C>G (p.Pro1642Ala)
c.4882C>G (p.Pro1628Ala)
c.4879C>G (p.Pro1627Ala)
c.4795C>G (p.Pro1599Ala)
2g.229787567G>TCA350892514TRIP12c.4756C>A (p.Pro1586Thr)
c.4765C>A (p.Pro1589Thr)
c.4933C>A (p.Pro1645Thr)
c.4792C>A (p.Pro1598Thr)
c.*3097C>A (n.*3097C>A)
c.4807C>A (p.Pro1603Thr)
c.4921C>A (p.Pro1641Thr)
c.587C>A
c.*2417C>A (n.*2417C>A)
c.4656C>A
c.4711C>A (p.Pro1571Thr)
c.4936C>A (p.Pro1646Thr)
c.4708C>A (p.Pro1570Thr)
c.4852C>A (p.Pro1618Thr)
c.3898C>A (p.Pro1300Thr)
c.4855C>A (p.Pro1619Thr)
c.4849C>A (p.Pro1617Thr)
c.4810C>A (p.Pro1604Thr)
c.4726C>A (p.Pro1576Thr)
c.4918C>A (p.Pro1640Thr)
c.4831C>A (p.Pro1611Thr)
c.4837C>A (p.Pro1613Thr)
c.4768C>A (p.Pro1590Thr)
c.5008C>A (p.Pro1670Thr)
c.5005C>A (p.Pro1669Thr)
c.4927C>A (p.Pro1643Thr)
c.4924C>A (p.Pro1642Thr)
c.4882C>A (p.Pro1628Thr)
c.4879C>A (p.Pro1627Thr)
c.4795C>A (p.Pro1599Thr)
2g.229787568G>ACA431535020TRIP12c.4755C>T (p.Asn1585=)
c.4764C>T (p.Asn1588=)
c.4932C>T (p.Asn1644=)
c.4791C>T (p.Asn1597=)
c.*3096C>T (n.*3096C>T)
c.4806C>T (p.Asn1602=)
c.4920C>T (p.Asn1640=)
c.586C>T
c.*2416C>T (n.*2416C>T)
c.4655C>T
c.4710C>T (p.Asn1570=)
c.4935C>T (p.Asn1645=)
c.4707C>T (p.Asn1569=)
c.4851C>T (p.Asn1617=)
c.3897C>T (p.Asn1299=)
c.4854C>T (p.Asn1618=)
c.4848C>T (p.Asn1616=)
c.4809C>T (p.Asn1603=)
c.4725C>T (p.Asn1575=)
c.4917C>T (p.Asn1639=)
c.4830C>T (p.Asn1610=)
c.4836C>T (p.Asn1612=)
c.4767C>T (p.Asn1589=)
c.5007C>T (p.Asn1669=)
c.5004C>T (p.Asn1668=)
c.4926C>T (p.Asn1642=)
c.4923C>T (p.Asn1641=)
c.4881C>T (p.Asn1627=)
c.4878C>T (p.Asn1626=)
c.4794C>T (p.Asn1598=)
2g.229787568G>CCA350892516TRIP12c.4755C>G (p.Asn1585Lys)
c.4764C>G (p.Asn1588Lys)
c.4932C>G (p.Asn1644Lys)
c.4791C>G (p.Asn1597Lys)
c.*3096C>G (n.*3096C>G)
c.4806C>G (p.Asn1602Lys)
c.4920C>G (p.Asn1640Lys)
c.586C>G
c.*2416C>G (n.*2416C>G)
c.4655C>G
c.4710C>G (p.Asn1570Lys)
c.4935C>G (p.Asn1645Lys)
c.4707C>G (p.Asn1569Lys)
c.4851C>G (p.Asn1617Lys)
c.3897C>G (p.Asn1299Lys)
c.4854C>G (p.Asn1618Lys)
c.4848C>G (p.Asn1616Lys)
c.4809C>G (p.Asn1603Lys)
c.4725C>G (p.Asn1575Lys)
c.4917C>G (p.Asn1639Lys)
c.4830C>G (p.Asn1610Lys)
c.4836C>G (p.Asn1612Lys)
c.4767C>G (p.Asn1589Lys)
c.5007C>G (p.Asn1669Lys)
c.5004C>G (p.Asn1668Lys)
c.4926C>G (p.Asn1642Lys)
c.4923C>G (p.Asn1641Lys)
c.4881C>G (p.Asn1627Lys)
c.4878C>G (p.Asn1626Lys)
c.4794C>G (p.Asn1598Lys)
2g.229787568G>TCA350892515TRIP12c.4755C>A (p.Asn1585Lys)
c.4764C>A (p.Asn1588Lys)
c.4932C>A (p.Asn1644Lys)
c.4791C>A (p.Asn1597Lys)
c.*3096C>A (n.*3096C>A)
c.4806C>A (p.Asn1602Lys)
c.4920C>A (p.Asn1640Lys)
c.586C>A
c.*2416C>A (n.*2416C>A)
c.4655C>A
c.4710C>A (p.Asn1570Lys)
c.4935C>A (p.Asn1645Lys)
c.4707C>A (p.Asn1569Lys)
c.4851C>A (p.Asn1617Lys)
c.3897C>A (p.Asn1299Lys)
c.4854C>A (p.Asn1618Lys)
c.4848C>A (p.Asn1616Lys)
c.4809C>A (p.Asn1603Lys)
c.4725C>A (p.Asn1575Lys)
c.4917C>A (p.Asn1639Lys)
c.4830C>A (p.Asn1610Lys)
c.4836C>A (p.Asn1612Lys)
c.4767C>A (p.Asn1589Lys)
c.5007C>A (p.Asn1669Lys)
c.5004C>A (p.Asn1668Lys)
c.4926C>A (p.Asn1642Lys)
c.4923C>A (p.Asn1641Lys)
c.4881C>A (p.Asn1627Lys)
c.4878C>A (p.Asn1626Lys)
c.4794C>A (p.Asn1598Lys)
2g.229787569T>ACA350892517TRIP12c.4754A>T (p.Asn1585Ile)
c.4763A>T (p.Asn1588Ile)
c.4931A>T (p.Asn1644Ile)
c.4790A>T (p.Asn1597Ile)
c.*3095A>T (n.*3095A>T)
c.4805A>T (p.Asn1602Ile)
c.4919A>T (p.Asn1640Ile)
c.585A>T
c.*2415A>T (n.*2415A>T)
c.4654A>T
c.4709A>T (p.Asn1570Ile)
c.4934A>T (p.Asn1645Ile)
c.4706A>T (p.Asn1569Ile)
c.4850A>T (p.Asn1617Ile)
c.3896A>T (p.Asn1299Ile)
c.4853A>T (p.Asn1618Ile)
c.4847A>T (p.Asn1616Ile)
c.4808A>T (p.Asn1603Ile)
c.4724A>T (p.Asn1575Ile)
c.4916A>T (p.Asn1639Ile)
c.4829A>T (p.Asn1610Ile)
c.4835A>T (p.Asn1612Ile)
c.4766A>T (p.Asn1589Ile)
c.5006A>T (p.Asn1669Ile)
c.5003A>T (p.Asn1668Ile)
c.4925A>T (p.Asn1642Ile)
c.4922A>T (p.Asn1641Ile)
c.4880A>T (p.Asn1627Ile)
c.4877A>T (p.Asn1626Ile)
c.4793A>T (p.Asn1598Ile)
2g.229787569T>CCA350892521TRIP12c.4754A>G (p.Asn1585Ser)
c.4763A>G (p.Asn1588Ser)
c.4931A>G (p.Asn1644Ser)
c.4790A>G (p.Asn1597Ser)
c.*3095A>G (n.*3095A>G)
c.4805A>G (p.Asn1602Ser)
c.4919A>G (p.Asn1640Ser)
c.585A>G
c.*2415A>G (n.*2415A>G)
c.4654A>G
c.4709A>G (p.Asn1570Ser)
c.4934A>G (p.Asn1645Ser)
c.4706A>G (p.Asn1569Ser)
c.4850A>G (p.Asn1617Ser)
c.3896A>G (p.Asn1299Ser)
c.4853A>G (p.Asn1618Ser)
c.4847A>G (p.Asn1616Ser)
c.4808A>G (p.Asn1603Ser)
c.4724A>G (p.Asn1575Ser)
c.4916A>G (p.Asn1639Ser)
c.4829A>G (p.Asn1610Ser)
c.4835A>G (p.Asn1612Ser)
c.4766A>G (p.Asn1589Ser)
c.5006A>G (p.Asn1669Ser)
c.5003A>G (p.Asn1668Ser)
c.4925A>G (p.Asn1642Ser)
c.4922A>G (p.Asn1641Ser)
c.4880A>G (p.Asn1627Ser)
c.4877A>G (p.Asn1626Ser)
c.4793A>G (p.Asn1598Ser)
2g.229787569T>GCA350892519TRIP12c.4754A>C (p.Asn1585Thr)
c.4763A>C (p.Asn1588Thr)
c.4931A>C (p.Asn1644Thr)
c.4790A>C (p.Asn1597Thr)
c.*3095A>C (n.*3095A>C)
c.4805A>C (p.Asn1602Thr)
c.4919A>C (p.Asn1640Thr)
c.585A>C
c.*2415A>C (n.*2415A>C)
c.4654A>C
c.4709A>C (p.Asn1570Thr)
c.4934A>C (p.Asn1645Thr)
c.4706A>C (p.Asn1569Thr)
c.4850A>C (p.Asn1617Thr)
c.3896A>C (p.Asn1299Thr)
c.4853A>C (p.Asn1618Thr)
c.4847A>C (p.Asn1616Thr)
c.4808A>C (p.Asn1603Thr)
c.4724A>C (p.Asn1575Thr)
c.4916A>C (p.Asn1639Thr)
c.4829A>C (p.Asn1610Thr)
c.4835A>C (p.Asn1612Thr)
c.4766A>C (p.Asn1589Thr)
c.5006A>C (p.Asn1669Thr)
c.5003A>C (p.Asn1668Thr)
c.4925A>C (p.Asn1642Thr)
c.4922A>C (p.Asn1641Thr)
c.4880A>C (p.Asn1627Thr)
c.4877A>C (p.Asn1626Thr)
c.4793A>C (p.Asn1598Thr)
2g.229787570T>ACA350892524TRIP12c.4753A>T (p.Asn1585Tyr)
c.4762A>T (p.Asn1588Tyr)
c.4930A>T (p.Asn1644Tyr)
c.4789A>T (p.Asn1597Tyr)
c.*3094A>T (n.*3094A>T)
c.4804A>T (p.Asn1602Tyr)
c.4918A>T (p.Asn1640Tyr)
c.584A>T
c.*2414A>T (n.*2414A>T)
c.4653A>T
c.4708A>T (p.Asn1570Tyr)
c.4933A>T (p.Asn1645Tyr)
c.4705A>T (p.Asn1569Tyr)
c.4849A>T (p.Asn1617Tyr)
c.3895A>T (p.Asn1299Tyr)
c.4852A>T (p.Asn1618Tyr)
c.4846A>T (p.Asn1616Tyr)
c.4807A>T (p.Asn1603Tyr)
c.4723A>T (p.Asn1575Tyr)
c.4915A>T (p.Asn1639Tyr)
c.4828A>T (p.Asn1610Tyr)
c.4834A>T (p.Asn1612Tyr)
c.4765A>T (p.Asn1589Tyr)
c.5005A>T (p.Asn1669Tyr)
c.5002A>T (p.Asn1668Tyr)
c.4924A>T (p.Asn1642Tyr)
c.4921A>T (p.Asn1641Tyr)
c.4879A>T (p.Asn1627Tyr)
c.4876A>T (p.Asn1626Tyr)
c.4792A>T (p.Asn1598Tyr)
2g.229787570T>CCA350892527TRIP12c.4753A>G (p.Asn1585Asp)
c.4762A>G (p.Asn1588Asp)
c.4930A>G (p.Asn1644Asp)
c.4789A>G (p.Asn1597Asp)
c.*3094A>G (n.*3094A>G)
c.4804A>G (p.Asn1602Asp)
c.4918A>G (p.Asn1640Asp)
c.584A>G
c.*2414A>G (n.*2414A>G)
c.4653A>G
c.4708A>G (p.Asn1570Asp)
c.4933A>G (p.Asn1645Asp)
c.4705A>G (p.Asn1569Asp)
c.4849A>G (p.Asn1617Asp)
c.3895A>G (p.Asn1299Asp)
c.4852A>G (p.Asn1618Asp)
c.4846A>G (p.Asn1616Asp)
c.4807A>G (p.Asn1603Asp)
c.4723A>G (p.Asn1575Asp)
c.4915A>G (p.Asn1639Asp)
c.4828A>G (p.Asn1610Asp)
c.4834A>G (p.Asn1612Asp)
c.4765A>G (p.Asn1589Asp)
c.5005A>G (p.Asn1669Asp)
c.5002A>G (p.Asn1668Asp)
c.4924A>G (p.Asn1642Asp)
c.4921A>G (p.Asn1641Asp)
c.4879A>G (p.Asn1627Asp)
c.4876A>G (p.Asn1626Asp)
c.4792A>G (p.Asn1598Asp)
2g.229787570T>GCA350892533TRIP12c.4753A>C (p.Asn1585His)
c.4762A>C (p.Asn1588His)
c.4930A>C (p.Asn1644His)
c.4789A>C (p.Asn1597His)
c.*3094A>C (n.*3094A>C)
c.4804A>C (p.Asn1602His)
c.4918A>C (p.Asn1640His)
c.584A>C
c.*2414A>C (n.*2414A>C)
c.4653A>C
c.4708A>C (p.Asn1570His)
c.4933A>C (p.Asn1645His)
c.4705A>C (p.Asn1569His)
c.4849A>C (p.Asn1617His)
c.3895A>C (p.Asn1299His)
c.4852A>C (p.Asn1618His)
c.4846A>C (p.Asn1616His)
c.4807A>C (p.Asn1603His)
c.4723A>C (p.Asn1575His)
c.4915A>C (p.Asn1639His)
c.4828A>C (p.Asn1610His)
c.4834A>C (p.Asn1612His)
c.4765A>C (p.Asn1589His)
c.5005A>C (p.Asn1669His)
c.5002A>C (p.Asn1668His)
c.4924A>C (p.Asn1642His)
c.4921A>C (p.Asn1641His)
c.4879A>C (p.Asn1627His)
c.4876A>C (p.Asn1626His)
c.4792A>C (p.Asn1598His)
 gnomAD v4
2g.229787571G>ACA431535021TRIP12c.4752C>T (p.Thr1584=)
c.4761C>T (p.Thr1587=)
c.4929C>T (p.Thr1643=)
c.4788C>T (p.Thr1596=)
c.*3093C>T (n.*3093C>T)
c.4803C>T (p.Thr1601=)
c.4917C>T (p.Thr1639=)
c.583C>T
c.*2413C>T (n.*2413C>T)
c.4652C>T
c.4707C>T (p.Thr1569=)
c.4932C>T (p.Thr1644=)
c.4704C>T (p.Thr1568=)
c.4848C>T (p.Thr1616=)
c.3894C>T (p.Thr1298=)
c.4851C>T (p.Thr1617=)
c.4845C>T (p.Thr1615=)
c.4806C>T (p.Thr1602=)
c.4722C>T (p.Thr1574=)
c.4914C>T (p.Thr1638=)
c.4827C>T (p.Thr1609=)
c.4833C>T (p.Thr1611=)
c.4764C>T (p.Thr1588=)
c.5004C>T (p.Thr1668=)
c.5001C>T (p.Thr1667=)
c.4923C>T (p.Thr1641=)
c.4920C>T (p.Thr1640=)
c.4878C>T (p.Thr1626=)
c.4875C>T (p.Thr1625=)
c.4791C>T (p.Thr1597=)
2g.229787571G>CCA431535022TRIP12c.4752C>G (p.Thr1584=)
c.4761C>G (p.Thr1587=)
c.4929C>G (p.Thr1643=)
c.4788C>G (p.Thr1596=)
c.*3093C>G (n.*3093C>G)
c.4803C>G (p.Thr1601=)
c.4917C>G (p.Thr1639=)
c.583C>G
c.*2413C>G (n.*2413C>G)
c.4652C>G
c.4707C>G (p.Thr1569=)
c.4932C>G (p.Thr1644=)
c.4704C>G (p.Thr1568=)
c.4848C>G (p.Thr1616=)
c.3894C>G (p.Thr1298=)
c.4851C>G (p.Thr1617=)
c.4845C>G (p.Thr1615=)
c.4806C>G (p.Thr1602=)
c.4722C>G (p.Thr1574=)
c.4914C>G (p.Thr1638=)
c.4827C>G (p.Thr1609=)
c.4833C>G (p.Thr1611=)
c.4764C>G (p.Thr1588=)
c.5004C>G (p.Thr1668=)
c.5001C>G (p.Thr1667=)
c.4923C>G (p.Thr1641=)
c.4920C>G (p.Thr1640=)
c.4878C>G (p.Thr1626=)
c.4875C>G (p.Thr1625=)
c.4791C>G (p.Thr1597=)
2g.229787571G>TCA431535023TRIP12c.4752C>A (p.Thr1584=)
c.4761C>A (p.Thr1587=)
c.4929C>A (p.Thr1643=)
c.4788C>A (p.Thr1596=)
c.*3093C>A (n.*3093C>A)
c.4803C>A (p.Thr1601=)
c.4917C>A (p.Thr1639=)
c.583C>A
c.*2413C>A (n.*2413C>A)
c.4652C>A
c.4707C>A (p.Thr1569=)
c.4932C>A (p.Thr1644=)
c.4704C>A (p.Thr1568=)
c.4848C>A (p.Thr1616=)
c.3894C>A (p.Thr1298=)
c.4851C>A (p.Thr1617=)
c.4845C>A (p.Thr1615=)
c.4806C>A (p.Thr1602=)
c.4722C>A (p.Thr1574=)
c.4914C>A (p.Thr1638=)
c.4827C>A (p.Thr1609=)
c.4833C>A (p.Thr1611=)
c.4764C>A (p.Thr1588=)
c.5004C>A (p.Thr1668=)
c.5001C>A (p.Thr1667=)
c.4923C>A (p.Thr1641=)
c.4920C>A (p.Thr1640=)
c.4878C>A (p.Thr1626=)
c.4875C>A (p.Thr1625=)
c.4791C>A (p.Thr1597=)
2g.229787572G>ACA350892542TRIP12c.4751C>T (p.Thr1584Ile)
c.4760C>T (p.Thr1587Ile)
c.4928C>T (p.Thr1643Ile)
c.4787C>T (p.Thr1596Ile)
c.*3092C>T (n.*3092C>T)
c.4802C>T (p.Thr1601Ile)
c.4916C>T (p.Thr1639Ile)
c.582C>T
c.*2412C>T (n.*2412C>T)
c.4651C>T
c.4706C>T (p.Thr1569Ile)
c.4931C>T (p.Thr1644Ile)
c.4703C>T (p.Thr1568Ile)
c.4847C>T (p.Thr1616Ile)
c.3893C>T (p.Thr1298Ile)
c.4850C>T (p.Thr1617Ile)
c.4844C>T (p.Thr1615Ile)
c.4805C>T (p.Thr1602Ile)
c.4721C>T (p.Thr1574Ile)
c.4913C>T (p.Thr1638Ile)
c.4826C>T (p.Thr1609Ile)
c.4832C>T (p.Thr1611Ile)
c.4763C>T (p.Thr1588Ile)
c.5003C>T (p.Thr1668Ile)
c.5000C>T (p.Thr1667Ile)
c.4922C>T (p.Thr1641Ile)
c.4919C>T (p.Thr1640Ile)
c.4877C>T (p.Thr1626Ile)
c.4874C>T (p.Thr1625Ile)
c.4790C>T (p.Thr1597Ile)
2g.229787572G>CCA350892544TRIP12c.4751C>G (p.Thr1584Ser)
c.4760C>G (p.Thr1587Ser)
c.4928C>G (p.Thr1643Ser)
c.4787C>G (p.Thr1596Ser)
c.*3092C>G (n.*3092C>G)
c.4802C>G (p.Thr1601Ser)
c.4916C>G (p.Thr1639Ser)
c.582C>G
c.*2412C>G (n.*2412C>G)
c.4651C>G
c.4706C>G (p.Thr1569Ser)
c.4931C>G (p.Thr1644Ser)
c.4703C>G (p.Thr1568Ser)
c.4847C>G (p.Thr1616Ser)
c.3893C>G (p.Thr1298Ser)
c.4850C>G (p.Thr1617Ser)
c.4844C>G (p.Thr1615Ser)
c.4805C>G (p.Thr1602Ser)
c.4721C>G (p.Thr1574Ser)
c.4913C>G (p.Thr1638Ser)
c.4826C>G (p.Thr1609Ser)
c.4832C>G (p.Thr1611Ser)
c.4763C>G (p.Thr1588Ser)
c.5003C>G (p.Thr1668Ser)
c.5000C>G (p.Thr1667Ser)
c.4922C>G (p.Thr1641Ser)
c.4919C>G (p.Thr1640Ser)
c.4877C>G (p.Thr1626Ser)
c.4874C>G (p.Thr1625Ser)
c.4790C>G (p.Thr1597Ser)
2g.229787572G>TCA350892546TRIP12c.4751C>A (p.Thr1584Asn)
c.4760C>A (p.Thr1587Asn)
c.4928C>A (p.Thr1643Asn)
c.4787C>A (p.Thr1596Asn)
c.*3092C>A (n.*3092C>A)
c.4802C>A (p.Thr1601Asn)
c.4916C>A (p.Thr1639Asn)
c.582C>A
c.*2412C>A (n.*2412C>A)
c.4651C>A
c.4706C>A (p.Thr1569Asn)
c.4931C>A (p.Thr1644Asn)
c.4703C>A (p.Thr1568Asn)
c.4847C>A (p.Thr1616Asn)
c.3893C>A (p.Thr1298Asn)
c.4850C>A (p.Thr1617Asn)
c.4844C>A (p.Thr1615Asn)
c.4805C>A (p.Thr1602Asn)
c.4721C>A (p.Thr1574Asn)
c.4913C>A (p.Thr1638Asn)
c.4826C>A (p.Thr1609Asn)
c.4832C>A (p.Thr1611Asn)
c.4763C>A (p.Thr1588Asn)
c.5003C>A (p.Thr1668Asn)
c.5000C>A (p.Thr1667Asn)
c.4922C>A (p.Thr1641Asn)
c.4919C>A (p.Thr1640Asn)
c.4877C>A (p.Thr1626Asn)
c.4874C>A (p.Thr1625Asn)
c.4790C>A (p.Thr1597Asn)
 ClinVar dbSNP gnomAD v4
2g.229787573T>ACA350892572TRIP12c.4750A>T (p.Thr1584Ser)
c.4759A>T (p.Thr1587Ser)
c.4927A>T (p.Thr1643Ser)
c.4786A>T (p.Thr1596Ser)
c.*3091A>T (n.*3091A>T)
c.4801A>T (p.Thr1601Ser)
c.4915A>T (p.Thr1639Ser)
c.581A>T
c.*2411A>T (n.*2411A>T)
c.4650A>T
c.4705A>T (p.Thr1569Ser)
c.4930A>T (p.Thr1644Ser)
c.4702A>T (p.Thr1568Ser)
c.4846A>T (p.Thr1616Ser)
c.3892A>T (p.Thr1298Ser)
c.4849A>T (p.Thr1617Ser)
c.4843A>T (p.Thr1615Ser)
c.4804A>T (p.Thr1602Ser)
c.4720A>T (p.Thr1574Ser)
c.4912A>T (p.Thr1638Ser)
c.4825A>T (p.Thr1609Ser)
c.4831A>T (p.Thr1611Ser)
c.4762A>T (p.Thr1588Ser)
c.5002A>T (p.Thr1668Ser)
c.4999A>T (p.Thr1667Ser)
c.4921A>T (p.Thr1641Ser)
c.4918A>T (p.Thr1640Ser)
c.4876A>T (p.Thr1626Ser)
c.4873A>T (p.Thr1625Ser)
c.4789A>T (p.Thr1597Ser)
2g.229787573T>CCA350892551TRIP12c.4750A>G (p.Thr1584Ala)
c.4759A>G (p.Thr1587Ala)
c.4927A>G (p.Thr1643Ala)
c.4786A>G (p.Thr1596Ala)
c.*3091A>G (n.*3091A>G)
c.4801A>G (p.Thr1601Ala)
c.4915A>G (p.Thr1639Ala)
c.581A>G
c.*2411A>G (n.*2411A>G)
c.4650A>G
c.4705A>G (p.Thr1569Ala)
c.4930A>G (p.Thr1644Ala)
c.4702A>G (p.Thr1568Ala)
c.4846A>G (p.Thr1616Ala)
c.3892A>G (p.Thr1298Ala)
c.4849A>G (p.Thr1617Ala)
c.4843A>G (p.Thr1615Ala)
c.4804A>G (p.Thr1602Ala)
c.4720A>G (p.Thr1574Ala)
c.4912A>G (p.Thr1638Ala)
c.4825A>G (p.Thr1609Ala)
c.4831A>G (p.Thr1611Ala)
c.4762A>G (p.Thr1588Ala)
c.5002A>G (p.Thr1668Ala)
c.4999A>G (p.Thr1667Ala)
c.4921A>G (p.Thr1641Ala)
c.4918A>G (p.Thr1640Ala)
c.4876A>G (p.Thr1626Ala)
c.4873A>G (p.Thr1625Ala)
c.4789A>G (p.Thr1597Ala)
2g.229787573T>GCA350892557TRIP12c.4750A>C (p.Thr1584Pro)
c.4759A>C (p.Thr1587Pro)
c.4927A>C (p.Thr1643Pro)
c.4786A>C (p.Thr1596Pro)
c.*3091A>C (n.*3091A>C)
c.4801A>C (p.Thr1601Pro)
c.4915A>C (p.Thr1639Pro)
c.581A>C
c.*2411A>C (n.*2411A>C)
c.4650A>C
c.4705A>C (p.Thr1569Pro)
c.4930A>C (p.Thr1644Pro)
c.4702A>C (p.Thr1568Pro)
c.4846A>C (p.Thr1616Pro)
c.3892A>C (p.Thr1298Pro)
c.4849A>C (p.Thr1617Pro)
c.4843A>C (p.Thr1615Pro)
c.4804A>C (p.Thr1602Pro)
c.4720A>C (p.Thr1574Pro)
c.4912A>C (p.Thr1638Pro)
c.4825A>C (p.Thr1609Pro)
c.4831A>C (p.Thr1611Pro)
c.4762A>C (p.Thr1588Pro)
c.5002A>C (p.Thr1668Pro)
c.4999A>C (p.Thr1667Pro)
c.4921A>C (p.Thr1641Pro)
c.4918A>C (p.Thr1640Pro)
c.4876A>C (p.Thr1626Pro)
c.4873A>C (p.Thr1625Pro)
c.4789A>C (p.Thr1597Pro)
2g.229787574A>CCA350892576TRIP12c.4749T>G (p.Asp1583Glu)
c.4758T>G (p.Asp1586Glu)
c.4926T>G (p.Asp1642Glu)
c.4785T>G (p.Asp1595Glu)
c.*3090T>G (n.*3090T>G)
c.4800T>G (p.Asp1600Glu)
c.4914T>G (p.Asp1638Glu)
c.580T>G
c.*2410T>G (n.*2410T>G)
c.4649T>G
c.4704T>G (p.Asp1568Glu)
c.4929T>G (p.Asp1643Glu)
c.4701T>G (p.Asp1567Glu)
c.4845T>G (p.Asp1615Glu)
c.3891T>G (p.Asp1297Glu)
c.4848T>G (p.Asp1616Glu)
c.4842T>G (p.Asp1614Glu)
c.4803T>G (p.Asp1601Glu)
c.4719T>G (p.Asp1573Glu)
c.4911T>G (p.Asp1637Glu)
c.4824T>G (p.Asp1608Glu)
c.4830T>G (p.Asp1610Glu)
c.4761T>G (p.Asp1587Glu)
c.5001T>G (p.Asp1667Glu)
c.4998T>G (p.Asp1666Glu)
c.4920T>G (p.Asp1640Glu)
c.4917T>G (p.Asp1639Glu)
c.4875T>G (p.Asp1625Glu)
c.4872T>G (p.Asp1624Glu)
c.4788T>G (p.Asp1596Glu)
2g.229787574A>GCA431535024TRIP12c.4749T>C (p.Asp1583=)
c.4758T>C (p.Asp1586=)
c.4926T>C (p.Asp1642=)
c.4785T>C (p.Asp1595=)
c.*3090T>C (n.*3090T>C)
c.4800T>C (p.Asp1600=)
c.4914T>C (p.Asp1638=)
c.580T>C
c.*2410T>C (n.*2410T>C)
c.4649T>C
c.4704T>C (p.Asp1568=)
c.4929T>C (p.Asp1643=)
c.4701T>C (p.Asp1567=)
c.4845T>C (p.Asp1615=)
c.3891T>C (p.Asp1297=)
c.4848T>C (p.Asp1616=)
c.4842T>C (p.Asp1614=)
c.4803T>C (p.Asp1601=)
c.4719T>C (p.Asp1573=)
c.4911T>C (p.Asp1637=)
c.4824T>C (p.Asp1608=)
c.4830T>C (p.Asp1610=)
c.4761T>C (p.Asp1587=)
c.5001T>C (p.Asp1667=)
c.4998T>C (p.Asp1666=)
c.4920T>C (p.Asp1640=)
c.4917T>C (p.Asp1639=)
c.4875T>C (p.Asp1625=)
c.4872T>C (p.Asp1624=)
c.4788T>C (p.Asp1596=)
2g.229787574A>TCA350892583TRIP12c.4749T>A (p.Asp1583Glu)
c.4758T>A (p.Asp1586Glu)
c.4926T>A (p.Asp1642Glu)
c.4785T>A (p.Asp1595Glu)
c.*3090T>A (n.*3090T>A)
c.4800T>A (p.Asp1600Glu)
c.4914T>A (p.Asp1638Glu)
c.580T>A
c.*2410T>A (n.*2410T>A)
c.4649T>A
c.4704T>A (p.Asp1568Glu)
c.4929T>A (p.Asp1643Glu)
c.4701T>A (p.Asp1567Glu)
c.4845T>A (p.Asp1615Glu)
c.3891T>A (p.Asp1297Glu)
c.4848T>A (p.Asp1616Glu)
c.4842T>A (p.Asp1614Glu)
c.4803T>A (p.Asp1601Glu)
c.4719T>A (p.Asp1573Glu)
c.4911T>A (p.Asp1637Glu)
c.4824T>A (p.Asp1608Glu)
c.4830T>A (p.Asp1610Glu)
c.4761T>A (p.Asp1587Glu)
c.5001T>A (p.Asp1667Glu)
c.4998T>A (p.Asp1666Glu)
c.4920T>A (p.Asp1640Glu)
c.4917T>A (p.Asp1639Glu)
c.4875T>A (p.Asp1625Glu)
c.4872T>A (p.Asp1624Glu)
c.4788T>A (p.Asp1596Glu)
2g.229787575T>ACA350892585TRIP12c.4748A>T (p.Asp1583Val)
c.4757A>T (p.Asp1586Val)
c.4925A>T (p.Asp1642Val)
c.4784A>T (p.Asp1595Val)
c.*3089A>T (n.*3089A>T)
c.4799A>T (p.Asp1600Val)
c.4913A>T (p.Asp1638Val)
c.579A>T
c.*2409A>T (n.*2409A>T)
c.4648A>T
c.4703A>T (p.Asp1568Val)
c.4928A>T (p.Asp1643Val)
c.4700A>T (p.Asp1567Val)
c.4844A>T (p.Asp1615Val)
c.3890A>T (p.Asp1297Val)
c.4847A>T (p.Asp1616Val)
c.4841A>T (p.Asp1614Val)
c.4802A>T (p.Asp1601Val)
c.4718A>T (p.Asp1573Val)
c.4910A>T (p.Asp1637Val)
c.4823A>T (p.Asp1608Val)
c.4829A>T (p.Asp1610Val)
c.4760A>T (p.Asp1587Val)
c.5000A>T (p.Asp1667Val)
c.4997A>T (p.Asp1666Val)
c.4919A>T (p.Asp1640Val)
c.4916A>T (p.Asp1639Val)
c.4874A>T (p.Asp1625Val)
c.4871A>T (p.Asp1624Val)
c.4787A>T (p.Asp1596Val)
 dbSNP gnomAD v2 gnomAD v4
2g.229787575T>CCA350892586TRIP12c.4748A>G (p.Asp1583Gly)
c.4757A>G (p.Asp1586Gly)
c.4925A>G (p.Asp1642Gly)
c.4784A>G (p.Asp1595Gly)
c.*3089A>G (n.*3089A>G)
c.4799A>G (p.Asp1600Gly)
c.4913A>G (p.Asp1638Gly)
c.579A>G
c.*2409A>G (n.*2409A>G)
c.4648A>G
c.4703A>G (p.Asp1568Gly)
c.4928A>G (p.Asp1643Gly)
c.4700A>G (p.Asp1567Gly)
c.4844A>G (p.Asp1615Gly)
c.3890A>G (p.Asp1297Gly)
c.4847A>G (p.Asp1616Gly)
c.4841A>G (p.Asp1614Gly)
c.4802A>G (p.Asp1601Gly)
c.4718A>G (p.Asp1573Gly)
c.4910A>G (p.Asp1637Gly)
c.4823A>G (p.Asp1608Gly)
c.4829A>G (p.Asp1610Gly)
c.4760A>G (p.Asp1587Gly)
c.5000A>G (p.Asp1667Gly)
c.4997A>G (p.Asp1666Gly)
c.4919A>G (p.Asp1640Gly)
c.4916A>G (p.Asp1639Gly)
c.4874A>G (p.Asp1625Gly)
c.4871A>G (p.Asp1624Gly)
c.4787A>G (p.Asp1596Gly)
2g.229787575T>GCA350892587TRIP12c.4748A>C (p.Asp1583Ala)
c.4757A>C (p.Asp1586Ala)
c.4925A>C (p.Asp1642Ala)
c.4784A>C (p.Asp1595Ala)
c.*3089A>C (n.*3089A>C)
c.4799A>C (p.Asp1600Ala)
c.4913A>C (p.Asp1638Ala)
c.579A>C
c.*2409A>C (n.*2409A>C)
c.4648A>C
c.4703A>C (p.Asp1568Ala)
c.4928A>C (p.Asp1643Ala)
c.4700A>C (p.Asp1567Ala)
c.4844A>C (p.Asp1615Ala)
c.3890A>C (p.Asp1297Ala)
c.4847A>C (p.Asp1616Ala)
c.4841A>C (p.Asp1614Ala)
c.4802A>C (p.Asp1601Ala)
c.4718A>C (p.Asp1573Ala)
c.4910A>C (p.Asp1637Ala)
c.4823A>C (p.Asp1608Ala)
c.4829A>C (p.Asp1610Ala)
c.4760A>C (p.Asp1587Ala)
c.5000A>C (p.Asp1667Ala)
c.4997A>C (p.Asp1666Ala)
c.4919A>C (p.Asp1640Ala)
c.4916A>C (p.Asp1639Ala)
c.4874A>C (p.Asp1625Ala)
c.4871A>C (p.Asp1624Ala)
c.4787A>C (p.Asp1596Ala)
2g.229787575T=CA1334026970TRIP12c.4748A= (p.Asp1583=)
c.4757A= (p.Asp1586=)
c.4925A= (p.Asp1642=)
c.4784A= (p.Asp1595=)
c.*3089A= (n.*3089A=)
c.4799A= (p.Asp1600=)
c.4913A= (p.Asp1638=)
c.579A=
c.*2409A= (n.*2409A=)
c.4648A=
c.4703A= (p.Asp1568=)
c.4928A= (p.Asp1643=)
c.4700A= (p.Asp1567=)
c.4844A= (p.Asp1615=)
c.3890A= (p.Asp1297=)
c.4847A= (p.Asp1616=)
c.4841A= (p.Asp1614=)
c.4802A= (p.Asp1601=)
c.4718A= (p.Asp1573=)
c.4910A= (p.Asp1637=)
c.4823A= (p.Asp1608=)
c.4829A= (p.Asp1610=)
c.4760A= (p.Asp1587=)
c.5000A= (p.Asp1667=)
c.4997A= (p.Asp1666=)
c.4919A= (p.Asp1640=)
c.4916A= (p.Asp1639=)
c.4874A= (p.Asp1625=)
c.4871A= (p.Asp1624=)
c.4787A= (p.Asp1596=)
2g.229787576C>ACA350892588TRIP12c.4747G>T (p.Asp1583Tyr)
c.4756G>T (p.Asp1586Tyr)
c.4924G>T (p.Asp1642Tyr)
c.4783G>T (p.Asp1595Tyr)
c.*3088G>T (n.*3088G>T)
c.4798G>T (p.Asp1600Tyr)
c.4912G>T (p.Asp1638Tyr)
c.578G>T
c.*2408G>T (n.*2408G>T)
c.4647G>T
c.4702G>T (p.Asp1568Tyr)
c.4927G>T (p.Asp1643Tyr)
c.4699G>T (p.Asp1567Tyr)
c.4843G>T (p.Asp1615Tyr)
c.3889G>T (p.Asp1297Tyr)
c.4846G>T (p.Asp1616Tyr)
c.4840G>T (p.Asp1614Tyr)
c.4801G>T (p.Asp1601Tyr)
c.4717G>T (p.Asp1573Tyr)
c.4909G>T (p.Asp1637Tyr)
c.4822G>T (p.Asp1608Tyr)
c.4828G>T (p.Asp1610Tyr)
c.4759G>T (p.Asp1587Tyr)
c.4999G>T (p.Asp1667Tyr)
c.4996G>T (p.Asp1666Tyr)
c.4918G>T (p.Asp1640Tyr)
c.4915G>T (p.Asp1639Tyr)
c.4873G>T (p.Asp1625Tyr)
c.4870G>T (p.Asp1624Tyr)
c.4786G>T (p.Asp1596Tyr)
2g.229787576C>GCA350892595TRIP12c.4747G>C (p.Asp1583His)
c.4756G>C (p.Asp1586His)
c.4924G>C (p.Asp1642His)
c.4783G>C (p.Asp1595His)
c.*3088G>C (n.*3088G>C)
c.4798G>C (p.Asp1600His)
c.4912G>C (p.Asp1638His)
c.578G>C
c.*2408G>C (n.*2408G>C)
c.4647G>C
c.4702G>C (p.Asp1568His)
c.4927G>C (p.Asp1643His)
c.4699G>C (p.Asp1567His)
c.4843G>C (p.Asp1615His)
c.3889G>C (p.Asp1297His)
c.4846G>C (p.Asp1616His)
c.4840G>C (p.Asp1614His)
c.4801G>C (p.Asp1601His)
c.4717G>C (p.Asp1573His)
c.4909G>C (p.Asp1637His)
c.4822G>C (p.Asp1608His)
c.4828G>C (p.Asp1610His)
c.4759G>C (p.Asp1587His)
c.4999G>C (p.Asp1667His)
c.4996G>C (p.Asp1666His)
c.4918G>C (p.Asp1640His)
c.4915G>C (p.Asp1639His)
c.4873G>C (p.Asp1625His)
c.4870G>C (p.Asp1624His)
c.4786G>C (p.Asp1596His)
2g.229787576C>TCA350892591TRIP12c.4747G>A (p.Asp1583Asn)
c.4756G>A (p.Asp1586Asn)
c.4924G>A (p.Asp1642Asn)
c.4783G>A (p.Asp1595Asn)
c.*3088G>A (n.*3088G>A)
c.4798G>A (p.Asp1600Asn)
c.4912G>A (p.Asp1638Asn)
c.578G>A
c.*2408G>A (n.*2408G>A)
c.4647G>A
c.4702G>A (p.Asp1568Asn)
c.4927G>A (p.Asp1643Asn)
c.4699G>A (p.Asp1567Asn)
c.4843G>A (p.Asp1615Asn)
c.3889G>A (p.Asp1297Asn)
c.4846G>A (p.Asp1616Asn)
c.4840G>A (p.Asp1614Asn)
c.4801G>A (p.Asp1601Asn)
c.4717G>A (p.Asp1573Asn)
c.4909G>A (p.Asp1637Asn)
c.4822G>A (p.Asp1608Asn)
c.4828G>A (p.Asp1610Asn)
c.4759G>A (p.Asp1587Asn)
c.4999G>A (p.Asp1667Asn)
c.4996G>A (p.Asp1666Asn)
c.4918G>A (p.Asp1640Asn)
c.4915G>A (p.Asp1639Asn)
c.4873G>A (p.Asp1625Asn)
c.4870G>A (p.Asp1624Asn)
c.4786G>A (p.Asp1596Asn)
2g.229787577A>CCA431535025TRIP12c.4746T>G (p.Leu1582=)
c.4755T>G (p.Leu1585=)
c.4923T>G (p.Leu1641=)
c.4782T>G (p.Leu1594=)
c.*3087T>G (n.*3087T>G)
c.4797T>G (p.Leu1599=)
c.4911T>G (p.Leu1637=)
c.577T>G
c.*2407T>G (n.*2407T>G)
c.4646T>G
c.4701T>G (p.Leu1567=)
c.4926T>G (p.Leu1642=)
c.4698T>G (p.Leu1566=)
c.4842T>G (p.Leu1614=)
c.3888T>G (p.Leu1296=)
c.4845T>G (p.Leu1615=)
c.4839T>G (p.Leu1613=)
c.4800T>G (p.Leu1600=)
c.4716T>G (p.Leu1572=)
c.4908T>G (p.Leu1636=)
c.4821T>G (p.Leu1607=)
c.4827T>G (p.Leu1609=)
c.4758T>G (p.Leu1586=)
c.4998T>G (p.Leu1666=)
c.4995T>G (p.Leu1665=)
c.4917T>G (p.Leu1639=)
c.4914T>G (p.Leu1638=)
c.4872T>G (p.Leu1624=)
c.4869T>G (p.Leu1623=)
c.4785T>G (p.Leu1595=)
2g.229787577A>GCA431535026TRIP12c.4746T>C (p.Leu1582=)
c.4755T>C (p.Leu1585=)
c.4923T>C (p.Leu1641=)
c.4782T>C (p.Leu1594=)
c.*3087T>C (n.*3087T>C)
c.4797T>C (p.Leu1599=)
c.4911T>C (p.Leu1637=)
c.577T>C
c.*2407T>C (n.*2407T>C)
c.4646T>C
c.4701T>C (p.Leu1567=)
c.4926T>C (p.Leu1642=)
c.4698T>C (p.Leu1566=)
c.4842T>C (p.Leu1614=)
c.3888T>C (p.Leu1296=)
c.4845T>C (p.Leu1615=)
c.4839T>C (p.Leu1613=)
c.4800T>C (p.Leu1600=)
c.4716T>C (p.Leu1572=)
c.4908T>C (p.Leu1636=)
c.4821T>C (p.Leu1607=)
c.4827T>C (p.Leu1609=)
c.4758T>C (p.Leu1586=)
c.4998T>C (p.Leu1666=)
c.4995T>C (p.Leu1665=)
c.4917T>C (p.Leu1639=)
c.4914T>C (p.Leu1638=)
c.4872T>C (p.Leu1624=)
c.4869T>C (p.Leu1623=)
c.4785T>C (p.Leu1595=)
2g.229787577A>TCA431535027TRIP12c.4746T>A (p.Leu1582=)
c.4755T>A (p.Leu1585=)
c.4923T>A (p.Leu1641=)
c.4782T>A (p.Leu1594=)
c.*3087T>A (n.*3087T>A)
c.4797T>A (p.Leu1599=)
c.4911T>A (p.Leu1637=)
c.577T>A
c.*2407T>A (n.*2407T>A)
c.4646T>A
c.4701T>A (p.Leu1567=)
c.4926T>A (p.Leu1642=)
c.4698T>A (p.Leu1566=)
c.4842T>A (p.Leu1614=)
c.3888T>A (p.Leu1296=)
c.4845T>A (p.Leu1615=)
c.4839T>A (p.Leu1613=)
c.4800T>A (p.Leu1600=)
c.4716T>A (p.Leu1572=)
c.4908T>A (p.Leu1636=)
c.4821T>A (p.Leu1607=)
c.4827T>A (p.Leu1609=)
c.4758T>A (p.Leu1586=)
c.4998T>A (p.Leu1666=)
c.4995T>A (p.Leu1665=)
c.4917T>A (p.Leu1639=)
c.4914T>A (p.Leu1638=)
c.4872T>A (p.Leu1624=)
c.4869T>A (p.Leu1623=)
c.4785T>A (p.Leu1595=)
2g.229787578A>CCA350892599TRIP12c.4745T>G (p.Leu1582Arg)
c.4754T>G (p.Leu1585Arg)
c.4922T>G (p.Leu1641Arg)
c.4781T>G (p.Leu1594Arg)
c.*3086T>G (n.*3086T>G)
c.4796T>G (p.Leu1599Arg)
c.4910T>G (p.Leu1637Arg)
c.576T>G
c.*2406T>G (n.*2406T>G)
c.4645T>G
c.4700T>G (p.Leu1567Arg)
c.4925T>G (p.Leu1642Arg)
c.4697T>G (p.Leu1566Arg)
c.4841T>G (p.Leu1614Arg)
c.3887T>G (p.Leu1296Arg)
c.4844T>G (p.Leu1615Arg)
c.4838T>G (p.Leu1613Arg)
c.4799T>G (p.Leu1600Arg)
c.4715T>G (p.Leu1572Arg)
c.4907T>G (p.Leu1636Arg)
c.4820T>G (p.Leu1607Arg)
c.4826T>G (p.Leu1609Arg)
c.4757T>G (p.Leu1586Arg)
c.4997T>G (p.Leu1666Arg)
c.4994T>G (p.Leu1665Arg)
c.4916T>G (p.Leu1639Arg)
c.4913T>G (p.Leu1638Arg)
c.4871T>G (p.Leu1624Arg)
c.4868T>G (p.Leu1623Arg)
c.4784T>G (p.Leu1595Arg)
2g.229787578A>GCA350892601TRIP12c.4745T>C (p.Leu1582Pro)
c.4754T>C (p.Leu1585Pro)
c.4922T>C (p.Leu1641Pro)
c.4781T>C (p.Leu1594Pro)
c.*3086T>C (n.*3086T>C)
c.4796T>C (p.Leu1599Pro)
c.4910T>C (p.Leu1637Pro)
c.576T>C
c.*2406T>C (n.*2406T>C)
c.4645T>C
c.4700T>C (p.Leu1567Pro)
c.4925T>C (p.Leu1642Pro)
c.4697T>C (p.Leu1566Pro)
c.4841T>C (p.Leu1614Pro)
c.3887T>C (p.Leu1296Pro)
c.4844T>C (p.Leu1615Pro)
c.4838T>C (p.Leu1613Pro)
c.4799T>C (p.Leu1600Pro)
c.4715T>C (p.Leu1572Pro)
c.4907T>C (p.Leu1636Pro)
c.4820T>C (p.Leu1607Pro)
c.4826T>C (p.Leu1609Pro)
c.4757T>C (p.Leu1586Pro)
c.4997T>C (p.Leu1666Pro)
c.4994T>C (p.Leu1665Pro)
c.4916T>C (p.Leu1639Pro)
c.4913T>C (p.Leu1638Pro)
c.4871T>C (p.Leu1624Pro)
c.4868T>C (p.Leu1623Pro)
c.4784T>C (p.Leu1595Pro)
 ClinVar
2g.229787578A>TCA350892604TRIP12c.4745T>A (p.Leu1582His)
c.4754T>A (p.Leu1585His)
c.4922T>A (p.Leu1641His)
c.4781T>A (p.Leu1594His)
c.*3086T>A (n.*3086T>A)
c.4796T>A (p.Leu1599His)
c.4910T>A (p.Leu1637His)
c.576T>A
c.*2406T>A (n.*2406T>A)
c.4645T>A
c.4700T>A (p.Leu1567His)
c.4925T>A (p.Leu1642His)
c.4697T>A (p.Leu1566His)
c.4841T>A (p.Leu1614His)
c.3887T>A (p.Leu1296His)
c.4844T>A (p.Leu1615His)
c.4838T>A (p.Leu1613His)
c.4799T>A (p.Leu1600His)
c.4715T>A (p.Leu1572His)
c.4907T>A (p.Leu1636His)
c.4820T>A (p.Leu1607His)
c.4826T>A (p.Leu1609His)
c.4757T>A (p.Leu1586His)
c.4997T>A (p.Leu1666His)
c.4994T>A (p.Leu1665His)
c.4916T>A (p.Leu1639His)
c.4913T>A (p.Leu1638His)
c.4871T>A (p.Leu1624His)
c.4868T>A (p.Leu1623His)
c.4784T>A (p.Leu1595His)
2g.229787579G>ACA350892617TRIP12c.4744C>T (p.Leu1582Phe)
c.4753C>T (p.Leu1585Phe)
c.4921C>T (p.Leu1641Phe)
c.4780C>T (p.Leu1594Phe)
c.*3085C>T (n.*3085C>T)
c.4795C>T (p.Leu1599Phe)
c.4909C>T (p.Leu1637Phe)
c.575C>T
c.*2405C>T (n.*2405C>T)
c.4644C>T
c.4699C>T (p.Leu1567Phe)
c.4924C>T (p.Leu1642Phe)
c.4696C>T (p.Leu1566Phe)
c.4840C>T (p.Leu1614Phe)
c.3886C>T (p.Leu1296Phe)
c.4843C>T (p.Leu1615Phe)
c.4837C>T (p.Leu1613Phe)
c.4798C>T (p.Leu1600Phe)
c.4714C>T (p.Leu1572Phe)
c.4906C>T (p.Leu1636Phe)
c.4819C>T (p.Leu1607Phe)
c.4825C>T (p.Leu1609Phe)
c.4756C>T (p.Leu1586Phe)
c.4996C>T (p.Leu1666Phe)
c.4993C>T (p.Leu1665Phe)
c.4915C>T (p.Leu1639Phe)
c.4912C>T (p.Leu1638Phe)
c.4870C>T (p.Leu1624Phe)
c.4867C>T (p.Leu1623Phe)
c.4783C>T (p.Leu1595Phe)
2g.229787579G>CCA350892622TRIP12c.4744C>G (p.Leu1582Val)
c.4753C>G (p.Leu1585Val)
c.4921C>G (p.Leu1641Val)
c.4780C>G (p.Leu1594Val)
c.*3085C>G (n.*3085C>G)
c.4795C>G (p.Leu1599Val)
c.4909C>G (p.Leu1637Val)
c.575C>G
c.*2405C>G (n.*2405C>G)
c.4644C>G
c.4699C>G (p.Leu1567Val)
c.4924C>G (p.Leu1642Val)
c.4696C>G (p.Leu1566Val)
c.4840C>G (p.Leu1614Val)
c.3886C>G (p.Leu1296Val)
c.4843C>G (p.Leu1615Val)
c.4837C>G (p.Leu1613Val)
c.4798C>G (p.Leu1600Val)
c.4714C>G (p.Leu1572Val)
c.4906C>G (p.Leu1636Val)
c.4819C>G (p.Leu1607Val)
c.4825C>G (p.Leu1609Val)
c.4756C>G (p.Leu1586Val)
c.4996C>G (p.Leu1666Val)
c.4993C>G (p.Leu1665Val)
c.4915C>G (p.Leu1639Val)
c.4912C>G (p.Leu1638Val)
c.4870C>G (p.Leu1624Val)
c.4867C>G (p.Leu1623Val)
c.4783C>G (p.Leu1595Val)
2g.229787579G>TCA350892624TRIP12c.4744C>A (p.Leu1582Ile)
c.4753C>A (p.Leu1585Ile)
c.4921C>A (p.Leu1641Ile)
c.4780C>A (p.Leu1594Ile)
c.*3085C>A (n.*3085C>A)
c.4795C>A (p.Leu1599Ile)
c.4909C>A (p.Leu1637Ile)
c.575C>A
c.*2405C>A (n.*2405C>A)
c.4644C>A
c.4699C>A (p.Leu1567Ile)
c.4924C>A (p.Leu1642Ile)
c.4696C>A (p.Leu1566Ile)
c.4840C>A (p.Leu1614Ile)
c.3886C>A (p.Leu1296Ile)
c.4843C>A (p.Leu1615Ile)
c.4837C>A (p.Leu1613Ile)
c.4798C>A (p.Leu1600Ile)
c.4714C>A (p.Leu1572Ile)
c.4906C>A (p.Leu1636Ile)
c.4819C>A (p.Leu1607Ile)
c.4825C>A (p.Leu1609Ile)
c.4756C>A (p.Leu1586Ile)
c.4996C>A (p.Leu1666Ile)
c.4993C>A (p.Leu1665Ile)
c.4915C>A (p.Leu1639Ile)
c.4912C>A (p.Leu1638Ile)
c.4870C>A (p.Leu1624Ile)
c.4867C>A (p.Leu1623Ile)
c.4783C>A (p.Leu1595Ile)
2g.229787580T>ACA350892634TRIP12c.4743A>T (p.Leu1581Phe)
c.4752A>T (p.Leu1584Phe)
c.4920A>T (p.Leu1640Phe)
c.4779A>T (p.Leu1593Phe)
c.*3084A>T (n.*3084A>T)
c.4794A>T (p.Leu1598Phe)
c.4908A>T (p.Leu1636Phe)
c.574A>T
c.*2404A>T (n.*2404A>T)
c.4643A>T
c.4698A>T (p.Leu1566Phe)
c.4923A>T (p.Leu1641Phe)
c.4695A>T (p.Leu1565Phe)
c.4839A>T (p.Leu1613Phe)
c.3885A>T (p.Leu1295Phe)
c.4842A>T (p.Leu1614Phe)
c.4836A>T (p.Leu1612Phe)
c.4797A>T (p.Leu1599Phe)
c.4713A>T (p.Leu1571Phe)
c.4905A>T (p.Leu1635Phe)
c.4818A>T (p.Leu1606Phe)
c.4824A>T (p.Leu1608Phe)
c.4755A>T (p.Leu1585Phe)
c.4995A>T (p.Leu1665Phe)
c.4992A>T (p.Leu1664Phe)
c.4914A>T (p.Leu1638Phe)
c.4911A>T (p.Leu1637Phe)
c.4869A>T (p.Leu1623Phe)
c.4866A>T (p.Leu1622Phe)
c.4782A>T (p.Leu1594Phe)
2g.229787580T>CCA431535028TRIP12c.4743A>G (p.Leu1581=)
c.4752A>G (p.Leu1584=)
c.4920A>G (p.Leu1640=)
c.4779A>G (p.Leu1593=)
c.*3084A>G (n.*3084A>G)
c.4794A>G (p.Leu1598=)
c.4908A>G (p.Leu1636=)
c.574A>G
c.*2404A>G (n.*2404A>G)
c.4643A>G
c.4698A>G (p.Leu1566=)
c.4923A>G (p.Leu1641=)
c.4695A>G (p.Leu1565=)
c.4839A>G (p.Leu1613=)
c.3885A>G (p.Leu1295=)
c.4842A>G (p.Leu1614=)
c.4836A>G (p.Leu1612=)
c.4797A>G (p.Leu1599=)
c.4713A>G (p.Leu1571=)
c.4905A>G (p.Leu1635=)
c.4818A>G (p.Leu1606=)
c.4824A>G (p.Leu1608=)
c.4755A>G (p.Leu1585=)
c.4995A>G (p.Leu1665=)
c.4992A>G (p.Leu1664=)
c.4914A>G (p.Leu1638=)
c.4911A>G (p.Leu1637=)
c.4869A>G (p.Leu1623=)
c.4866A>G (p.Leu1622=)
c.4782A>G (p.Leu1594=)
 dbSNP
2g.229787580T>GCA350892637TRIP12c.4743A>C (p.Leu1581Phe)
c.4752A>C (p.Leu1584Phe)
c.4920A>C (p.Leu1640Phe)
c.4779A>C (p.Leu1593Phe)
c.*3084A>C (n.*3084A>C)
c.4794A>C (p.Leu1598Phe)
c.4908A>C (p.Leu1636Phe)
c.574A>C
c.*2404A>C (n.*2404A>C)
c.4643A>C
c.4698A>C (p.Leu1566Phe)
c.4923A>C (p.Leu1641Phe)
c.4695A>C (p.Leu1565Phe)
c.4839A>C (p.Leu1613Phe)
c.3885A>C (p.Leu1295Phe)
c.4842A>C (p.Leu1614Phe)
c.4836A>C (p.Leu1612Phe)
c.4797A>C (p.Leu1599Phe)
c.4713A>C (p.Leu1571Phe)
c.4905A>C (p.Leu1635Phe)
c.4818A>C (p.Leu1606Phe)
c.4824A>C (p.Leu1608Phe)
c.4755A>C (p.Leu1585Phe)
c.4995A>C (p.Leu1665Phe)
c.4992A>C (p.Leu1664Phe)
c.4914A>C (p.Leu1638Phe)
c.4911A>C (p.Leu1637Phe)
c.4869A>C (p.Leu1623Phe)
c.4866A>C (p.Leu1622Phe)
c.4782A>C (p.Leu1594Phe)
2g.229787580T=CA1334026971TRIP12c.4743A= (p.Leu1581=)
c.4752A= (p.Leu1584=)
c.4920A= (p.Leu1640=)
c.4779A= (p.Leu1593=)
c.*3084A= (n.*3084A=)
c.4794A= (p.Leu1598=)
c.4908A= (p.Leu1636=)
c.574A=
c.*2404A= (n.*2404A=)
c.4643A=
c.4698A= (p.Leu1566=)
c.4923A= (p.Leu1641=)
c.4695A= (p.Leu1565=)
c.4839A= (p.Leu1613=)
c.3885A= (p.Leu1295=)
c.4842A= (p.Leu1614=)
c.4836A= (p.Leu1612=)
c.4797A= (p.Leu1599=)
c.4713A= (p.Leu1571=)
c.4905A= (p.Leu1635=)
c.4818A= (p.Leu1606=)
c.4824A= (p.Leu1608=)
c.4755A= (p.Leu1585=)
c.4995A= (p.Leu1665=)
c.4992A= (p.Leu1664=)
c.4914A= (p.Leu1638=)
c.4911A= (p.Leu1637=)
c.4869A= (p.Leu1623=)
c.4866A= (p.Leu1622=)
c.4782A= (p.Leu1594=)
2g.229787581A>CCA350892640TRIP12c.4742T>G (p.Leu1581Ter)
c.4751T>G (p.Leu1584Ter)
c.4919T>G (p.Leu1640Ter)
c.4778T>G (p.Leu1593Ter)
c.*3083T>G (n.*3083T>G)
c.4793T>G (p.Leu1598Ter)
c.4907T>G (p.Leu1636Ter)
c.573T>G
c.*2403T>G (n.*2403T>G)
c.4642T>G
c.4697T>G (p.Leu1566Ter)
c.4922T>G (p.Leu1641Ter)
c.4694T>G (p.Leu1565Ter)
c.4838T>G (p.Leu1613Ter)
c.3884T>G (p.Leu1295Ter)
c.4841T>G (p.Leu1614Ter)
c.4835T>G (p.Leu1612Ter)
c.4796T>G (p.Leu1599Ter)
c.4712T>G (p.Leu1571Ter)
c.4904T>G (p.Leu1635Ter)
c.4817T>G (p.Leu1606Ter)
c.4823T>G (p.Leu1608Ter)
c.4754T>G (p.Leu1585Ter)
c.4994T>G (p.Leu1665Ter)
c.4991T>G (p.Leu1664Ter)
c.4913T>G (p.Leu1638Ter)
c.4910T>G (p.Leu1637Ter)
c.4868T>G (p.Leu1623Ter)
c.4865T>G (p.Leu1622Ter)
c.4781T>G (p.Leu1594Ter)
2g.229787581A>GCA350892643TRIP12c.4742T>C (p.Leu1581Ser)
c.4751T>C (p.Leu1584Ser)
c.4919T>C (p.Leu1640Ser)
c.4778T>C (p.Leu1593Ser)
c.*3083T>C (n.*3083T>C)
c.4793T>C (p.Leu1598Ser)
c.4907T>C (p.Leu1636Ser)
c.573T>C
c.*2403T>C (n.*2403T>C)
c.4642T>C
c.4697T>C (p.Leu1566Ser)
c.4922T>C (p.Leu1641Ser)
c.4694T>C (p.Leu1565Ser)
c.4838T>C (p.Leu1613Ser)
c.3884T>C (p.Leu1295Ser)
c.4841T>C (p.Leu1614Ser)
c.4835T>C (p.Leu1612Ser)
c.4796T>C (p.Leu1599Ser)
c.4712T>C (p.Leu1571Ser)
c.4904T>C (p.Leu1635Ser)
c.4817T>C (p.Leu1606Ser)
c.4823T>C (p.Leu1608Ser)
c.4754T>C (p.Leu1585Ser)
c.4994T>C (p.Leu1665Ser)
c.4991T>C (p.Leu1664Ser)
c.4913T>C (p.Leu1638Ser)
c.4910T>C (p.Leu1637Ser)
c.4868T>C (p.Leu1623Ser)
c.4865T>C (p.Leu1622Ser)
c.4781T>C (p.Leu1594Ser)
2g.229787581A>TCA350892645TRIP12c.4742T>A (p.Leu1581Ter)
c.4751T>A (p.Leu1584Ter)
c.4919T>A (p.Leu1640Ter)
c.4778T>A (p.Leu1593Ter)
c.*3083T>A (n.*3083T>A)
c.4793T>A (p.Leu1598Ter)
c.4907T>A (p.Leu1636Ter)
c.573T>A
c.*2403T>A (n.*2403T>A)
c.4642T>A
c.4697T>A (p.Leu1566Ter)
c.4922T>A (p.Leu1641Ter)
c.4694T>A (p.Leu1565Ter)
c.4838T>A (p.Leu1613Ter)
c.3884T>A (p.Leu1295Ter)
c.4841T>A (p.Leu1614Ter)
c.4835T>A (p.Leu1612Ter)
c.4796T>A (p.Leu1599Ter)
c.4712T>A (p.Leu1571Ter)
c.4904T>A (p.Leu1635Ter)
c.4817T>A (p.Leu1606Ter)
c.4823T>A (p.Leu1608Ter)
c.4754T>A (p.Leu1585Ter)
c.4994T>A (p.Leu1665Ter)
c.4991T>A (p.Leu1664Ter)
c.4913T>A (p.Leu1638Ter)
c.4910T>A (p.Leu1637Ter)
c.4868T>A (p.Leu1623Ter)
c.4865T>A (p.Leu1622Ter)
c.4781T>A (p.Leu1594Ter)
2g.229787582A>CCA350892651TRIP12c.4741T>G (p.Leu1581Val)
c.4750T>G (p.Leu1584Val)
c.4918T>G (p.Leu1640Val)
c.4777T>G (p.Leu1593Val)
c.*3082T>G (n.*3082T>G)
c.4792T>G (p.Leu1598Val)
c.4906T>G (p.Leu1636Val)
c.572T>G
c.*2402T>G (n.*2402T>G)
c.4641T>G
c.4696T>G (p.Leu1566Val)
c.4921T>G (p.Leu1641Val)
c.4693T>G (p.Leu1565Val)
c.4837T>G (p.Leu1613Val)
c.3883T>G (p.Leu1295Val)
c.4840T>G (p.Leu1614Val)
c.4834T>G (p.Leu1612Val)
c.4795T>G (p.Leu1599Val)
c.4711T>G (p.Leu1571Val)
c.4903T>G (p.Leu1635Val)
c.4816T>G (p.Leu1606Val)
c.4822T>G (p.Leu1608Val)
c.4753T>G (p.Leu1585Val)
c.4993T>G (p.Leu1665Val)
c.4990T>G (p.Leu1664Val)
c.4912T>G (p.Leu1638Val)
c.4909T>G (p.Leu1637Val)
c.4867T>G (p.Leu1623Val)
c.4864T>G (p.Leu1622Val)
c.4780T>G (p.Leu1594Val)
2g.229787582A>GCA431535029TRIP12c.4741T>C (p.Leu1581=)
c.4750T>C (p.Leu1584=)
c.4918T>C (p.Leu1640=)
c.4777T>C (p.Leu1593=)
c.*3082T>C (n.*3082T>C)
c.4792T>C (p.Leu1598=)
c.4906T>C (p.Leu1636=)
c.572T>C
c.*2402T>C (n.*2402T>C)
c.4641T>C
c.4696T>C (p.Leu1566=)
c.4921T>C (p.Leu1641=)
c.4693T>C (p.Leu1565=)
c.4837T>C (p.Leu1613=)
c.3883T>C (p.Leu1295=)
c.4840T>C (p.Leu1614=)
c.4834T>C (p.Leu1612=)
c.4795T>C (p.Leu1599=)
c.4711T>C (p.Leu1571=)
c.4903T>C (p.Leu1635=)
c.4816T>C (p.Leu1606=)
c.4822T>C (p.Leu1608=)
c.4753T>C (p.Leu1585=)
c.4993T>C (p.Leu1665=)
c.4990T>C (p.Leu1664=)
c.4912T>C (p.Leu1638=)
c.4909T>C (p.Leu1637=)
c.4867T>C (p.Leu1623=)
c.4864T>C (p.Leu1622=)
c.4780T>C (p.Leu1594=)
2g.229787582A>TCA350892648TRIP12c.4741T>A (p.Leu1581Ile)
c.4750T>A (p.Leu1584Ile)
c.4918T>A (p.Leu1640Ile)
c.4777T>A (p.Leu1593Ile)
c.*3082T>A (n.*3082T>A)
c.4792T>A (p.Leu1598Ile)
c.4906T>A (p.Leu1636Ile)
c.572T>A
c.*2402T>A (n.*2402T>A)
c.4641T>A
c.4696T>A (p.Leu1566Ile)
c.4921T>A (p.Leu1641Ile)
c.4693T>A (p.Leu1565Ile)
c.4837T>A (p.Leu1613Ile)
c.3883T>A (p.Leu1295Ile)
c.4840T>A (p.Leu1614Ile)
c.4834T>A (p.Leu1612Ile)
c.4795T>A (p.Leu1599Ile)
c.4711T>A (p.Leu1571Ile)
c.4903T>A (p.Leu1635Ile)
c.4816T>A (p.Leu1606Ile)
c.4822T>A (p.Leu1608Ile)
c.4753T>A (p.Leu1585Ile)
c.4993T>A (p.Leu1665Ile)
c.4990T>A (p.Leu1664Ile)
c.4912T>A (p.Leu1638Ile)
c.4909T>A (p.Leu1637Ile)
c.4867T>A (p.Leu1623Ile)
c.4864T>A (p.Leu1622Ile)
c.4780T>A (p.Leu1594Ile)
2g.229787583T>ACA350892655TRIP12c.4740A>T (p.Arg1580Ser)
c.4749A>T (p.Arg1583Ser)
c.4917A>T (p.Arg1639Ser)
c.4776A>T (p.Arg1592Ser)
c.*3081A>T (n.*3081A>T)
c.4791A>T (p.Arg1597Ser)
c.4905A>T (p.Arg1635Ser)
c.571A>T
c.*2401A>T (n.*2401A>T)
c.4640A>T
c.4695A>T (p.Arg1565Ser)
c.4920A>T (p.Arg1640Ser)
c.4692A>T (p.Arg1564Ser)
c.4836A>T (p.Arg1612Ser)
c.3882A>T (p.Arg1294Ser)
c.4839A>T (p.Arg1613Ser)
c.4833A>T (p.Arg1611Ser)
c.4794A>T (p.Arg1598Ser)
c.4710A>T (p.Arg1570Ser)
c.4902A>T (p.Arg1634Ser)
c.4815A>T (p.Arg1605Ser)
c.4821A>T (p.Arg1607Ser)
c.4752A>T (p.Arg1584Ser)
c.4992A>T (p.Arg1664Ser)
c.4989A>T (p.Arg1663Ser)
c.4911A>T (p.Arg1637Ser)
c.4908A>T (p.Arg1636Ser)
c.4866A>T (p.Arg1622Ser)
c.4863A>T (p.Arg1621Ser)
c.4779A>T (p.Arg1593Ser)
2g.229787583T>CCA2152433TRIP12c.4740A>G (p.Arg1580=)
c.4749A>G (p.Arg1583=)
c.4917A>G (p.Arg1639=)
c.4776A>G (p.Arg1592=)
c.*3081A>G (n.*3081A>G)
c.4791A>G (p.Arg1597=)
c.4905A>G (p.Arg1635=)
c.571A>G
c.*2401A>G (n.*2401A>G)
c.4640A>G
c.4695A>G (p.Arg1565=)
c.4920A>G (p.Arg1640=)
c.4692A>G (p.Arg1564=)
c.4836A>G (p.Arg1612=)
c.3882A>G (p.Arg1294=)
c.4839A>G (p.Arg1613=)
c.4833A>G (p.Arg1611=)
c.4794A>G (p.Arg1598=)
c.4710A>G (p.Arg1570=)
c.4902A>G (p.Arg1634=)
c.4815A>G (p.Arg1605=)
c.4821A>G (p.Arg1607=)
c.4752A>G (p.Arg1584=)
c.4992A>G (p.Arg1664=)
c.4989A>G (p.Arg1663=)
c.4911A>G (p.Arg1637=)
c.4908A>G (p.Arg1636=)
c.4866A>G (p.Arg1622=)
c.4863A>G (p.Arg1621=)
c.4779A>G (p.Arg1593=)
 dbSNP ExAC gnomAD v2
2g.229787583T>GCA350892657TRIP12c.4740A>C (p.Arg1580Ser)
c.4749A>C (p.Arg1583Ser)
c.4917A>C (p.Arg1639Ser)
c.4776A>C (p.Arg1592Ser)
c.*3081A>C (n.*3081A>C)
c.4791A>C (p.Arg1597Ser)
c.4905A>C (p.Arg1635Ser)
c.571A>C
c.*2401A>C (n.*2401A>C)
c.4640A>C
c.4695A>C (p.Arg1565Ser)
c.4920A>C (p.Arg1640Ser)
c.4692A>C (p.Arg1564Ser)
c.4836A>C (p.Arg1612Ser)
c.3882A>C (p.Arg1294Ser)
c.4839A>C (p.Arg1613Ser)
c.4833A>C (p.Arg1611Ser)
c.4794A>C (p.Arg1598Ser)
c.4710A>C (p.Arg1570Ser)
c.4902A>C (p.Arg1634Ser)
c.4815A>C (p.Arg1605Ser)
c.4821A>C (p.Arg1607Ser)
c.4752A>C (p.Arg1584Ser)
c.4992A>C (p.Arg1664Ser)
c.4989A>C (p.Arg1663Ser)
c.4911A>C (p.Arg1637Ser)
c.4908A>C (p.Arg1636Ser)
c.4866A>C (p.Arg1622Ser)
c.4863A>C (p.Arg1621Ser)
c.4779A>C (p.Arg1593Ser)
2g.229787583T=CA1334026972TRIP12c.4740A= (p.Arg1580=)
c.4749A= (p.Arg1583=)
c.4917A= (p.Arg1639=)
c.4776A= (p.Arg1592=)
c.*3081A= (n.*3081A=)
c.4791A= (p.Arg1597=)
c.4905A= (p.Arg1635=)
c.571A=
c.*2401A= (n.*2401A=)
c.4640A=
c.4695A= (p.Arg1565=)
c.4920A= (p.Arg1640=)
c.4692A= (p.Arg1564=)
c.4836A= (p.Arg1612=)
c.3882A= (p.Arg1294=)
c.4839A= (p.Arg1613=)
c.4833A= (p.Arg1611=)
c.4794A= (p.Arg1598=)
c.4710A= (p.Arg1570=)
c.4902A= (p.Arg1634=)
c.4815A= (p.Arg1605=)
c.4821A= (p.Arg1607=)
c.4752A= (p.Arg1584=)
c.4992A= (p.Arg1664=)
c.4989A= (p.Arg1663=)
c.4911A= (p.Arg1637=)
c.4908A= (p.Arg1636=)
c.4866A= (p.Arg1622=)
c.4863A= (p.Arg1621=)
c.4779A= (p.Arg1593=)
2g.229787584C>ACA350892659TRIP12c.4739G>T (p.Arg1580Ile)
c.4748G>T (p.Arg1583Ile)
c.4916G>T (p.Arg1639Ile)
c.4775G>T (p.Arg1592Ile)
c.*3080G>T (n.*3080G>T)
c.4790G>T (p.Arg1597Ile)
c.4904G>T (p.Arg1635Ile)
c.570G>T
c.*2400G>T (n.*2400G>T)
c.4639G>T
c.4694G>T (p.Arg1565Ile)
c.4919G>T (p.Arg1640Ile)
c.4691G>T (p.Arg1564Ile)
c.4835G>T (p.Arg1612Ile)
c.3881G>T (p.Arg1294Ile)
c.4838G>T (p.Arg1613Ile)
c.4832G>T (p.Arg1611Ile)
c.4793G>T (p.Arg1598Ile)
c.4709G>T (p.Arg1570Ile)
c.4901G>T (p.Arg1634Ile)
c.4814G>T (p.Arg1605Ile)
c.4820G>T (p.Arg1607Ile)
c.4751G>T (p.Arg1584Ile)
c.4991G>T (p.Arg1664Ile)
c.4988G>T (p.Arg1663Ile)
c.4910G>T (p.Arg1637Ile)
c.4907G>T (p.Arg1636Ile)
c.4865G>T (p.Arg1622Ile)
c.4862G>T (p.Arg1621Ile)
c.4778G>T (p.Arg1593Ile)
 COSMIC
2g.229787584C>GCA350892664TRIP12c.4739G>C (p.Arg1580Thr)
c.4748G>C (p.Arg1583Thr)
c.4916G>C (p.Arg1639Thr)
c.4775G>C (p.Arg1592Thr)
c.*3080G>C (n.*3080G>C)
c.4790G>C (p.Arg1597Thr)
c.4904G>C (p.Arg1635Thr)
c.570G>C
c.*2400G>C (n.*2400G>C)
c.4639G>C
c.4694G>C (p.Arg1565Thr)
c.4919G>C (p.Arg1640Thr)
c.4691G>C (p.Arg1564Thr)
c.4835G>C (p.Arg1612Thr)
c.3881G>C (p.Arg1294Thr)
c.4838G>C (p.Arg1613Thr)
c.4832G>C (p.Arg1611Thr)
c.4793G>C (p.Arg1598Thr)
c.4709G>C (p.Arg1570Thr)
c.4901G>C (p.Arg1634Thr)
c.4814G>C (p.Arg1605Thr)
c.4820G>C (p.Arg1607Thr)
c.4751G>C (p.Arg1584Thr)
c.4991G>C (p.Arg1664Thr)
c.4988G>C (p.Arg1663Thr)
c.4910G>C (p.Arg1637Thr)
c.4907G>C (p.Arg1636Thr)
c.4865G>C (p.Arg1622Thr)
c.4862G>C (p.Arg1621Thr)
c.4778G>C (p.Arg1593Thr)
2g.229787584C>TCA350892678TRIP12c.4739G>A (p.Arg1580Lys)
c.4748G>A (p.Arg1583Lys)
c.4916G>A (p.Arg1639Lys)
c.4775G>A (p.Arg1592Lys)
c.*3080G>A (n.*3080G>A)
c.4790G>A (p.Arg1597Lys)
c.4904G>A (p.Arg1635Lys)
c.570G>A
c.*2400G>A (n.*2400G>A)
c.4639G>A
c.4694G>A (p.Arg1565Lys)
c.4919G>A (p.Arg1640Lys)
c.4691G>A (p.Arg1564Lys)
c.4835G>A (p.Arg1612Lys)
c.3881G>A (p.Arg1294Lys)
c.4838G>A (p.Arg1613Lys)
c.4832G>A (p.Arg1611Lys)
c.4793G>A (p.Arg1598Lys)
c.4709G>A (p.Arg1570Lys)
c.4901G>A (p.Arg1634Lys)
c.4814G>A (p.Arg1605Lys)
c.4820G>A (p.Arg1607Lys)
c.4751G>A (p.Arg1584Lys)
c.4991G>A (p.Arg1664Lys)
c.4988G>A (p.Arg1663Lys)
c.4910G>A (p.Arg1637Lys)
c.4907G>A (p.Arg1636Lys)
c.4865G>A (p.Arg1622Lys)
c.4862G>A (p.Arg1621Lys)
c.4778G>A (p.Arg1593Lys)
2g.229787584_229787585insAGACA2754576154TRIP12c.4738_4739insTCT (p.Arg1580IlefsTer2)
c.4747_4748insTCT (p.Arg1583IlefsTer2)
c.4915_4916insTCT (p.Arg1639IlefsTer2)
c.4774_4775insTCT (p.Arg1592IlefsTer2)
c.*3079_*3080insTCT (n.*3079_*3080insTCT)
c.4789_4790insTCT (p.Arg1597IlefsTer2)
c.4903_4904insTCT (p.Arg1635IlefsTer2)
c.569_570insTCT
c.*2399_*2400insTCT (n.*2399_*2400insTCT)
c.4638_4639insTCT
c.4693_4694insTCT (p.Arg1565IlefsTer2)
c.4918_4919insTCT (p.Arg1640IlefsTer2)
c.4690_4691insTCT (p.Arg1564IlefsTer2)
c.4834_4835insTCT (p.Arg1612IlefsTer2)
c.3880_3881insTCT (p.Arg1294IlefsTer2)
c.4837_4838insTCT (p.Arg1613IlefsTer2)
c.4831_4832insTCT (p.Arg1611IlefsTer2)
c.4792_4793insTCT (p.Arg1598IlefsTer2)
c.4708_4709insTCT (p.Arg1570IlefsTer2)
c.4900_4901insTCT (p.Arg1634IlefsTer2)
c.4813_4814insTCT (p.Arg1605IlefsTer2)
c.4819_4820insTCT (p.Arg1607IlefsTer2)
c.4750_4751insTCT (p.Arg1584IlefsTer2)
c.4990_4991insTCT (p.Arg1664IlefsTer2)
c.4987_4988insTCT (p.Arg1663IlefsTer2)
c.4909_4910insTCT (p.Arg1637IlefsTer2)
c.4906_4907insTCT (p.Arg1636IlefsTer2)
c.4864_4865insTCT (p.Arg1622IlefsTer2)
c.4861_4862insTCT (p.Arg1621IlefsTer2)
c.4777_4778insTCT (p.Arg1593IlefsTer2)
2g.229787585T>ACA350892685TRIP12c.4738A>T (p.Arg1580Ter)
c.4747A>T (p.Arg1583Ter)
c.4915A>T (p.Arg1639Ter)
c.4774A>T (p.Arg1592Ter)
c.*3079A>T (n.*3079A>T)
c.4789A>T (p.Arg1597Ter)
c.4903A>T (p.Arg1635Ter)
c.569A>T
c.*2399A>T (n.*2399A>T)
c.4638A>T
c.4693A>T (p.Arg1565Ter)
c.4918A>T (p.Arg1640Ter)
c.4690A>T (p.Arg1564Ter)
c.4834A>T (p.Arg1612Ter)
c.3880A>T (p.Arg1294Ter)
c.4837A>T (p.Arg1613Ter)
c.4831A>T (p.Arg1611Ter)
c.4792A>T (p.Arg1598Ter)
c.4708A>T (p.Arg1570Ter)
c.4900A>T (p.Arg1634Ter)
c.4813A>T (p.Arg1605Ter)
c.4819A>T (p.Arg1607Ter)
c.4750A>T (p.Arg1584Ter)
c.4990A>T (p.Arg1664Ter)
c.4987A>T (p.Arg1663Ter)
c.4909A>T (p.Arg1637Ter)
c.4906A>T (p.Arg1636Ter)
c.4864A>T (p.Arg1622Ter)
c.4861A>T (p.Arg1621Ter)
c.4777A>T (p.Arg1593Ter)
2g.229787585T>CCA350892682TRIP12c.4738A>G (p.Arg1580Gly)
c.4747A>G (p.Arg1583Gly)
c.4915A>G (p.Arg1639Gly)
c.4774A>G (p.Arg1592Gly)
c.*3079A>G (n.*3079A>G)
c.4789A>G (p.Arg1597Gly)
c.4903A>G (p.Arg1635Gly)
c.569A>G
c.*2399A>G (n.*2399A>G)
c.4638A>G
c.4693A>G (p.Arg1565Gly)
c.4918A>G (p.Arg1640Gly)
c.4690A>G (p.Arg1564Gly)
c.4834A>G (p.Arg1612Gly)
c.3880A>G (p.Arg1294Gly)
c.4837A>G (p.Arg1613Gly)
c.4831A>G (p.Arg1611Gly)
c.4792A>G (p.Arg1598Gly)
c.4708A>G (p.Arg1570Gly)
c.4900A>G (p.Arg1634Gly)
c.4813A>G (p.Arg1605Gly)
c.4819A>G (p.Arg1607Gly)
c.4750A>G (p.Arg1584Gly)
c.4990A>G (p.Arg1664Gly)
c.4987A>G (p.Arg1663Gly)
c.4909A>G (p.Arg1637Gly)
c.4906A>G (p.Arg1636Gly)
c.4864A>G (p.Arg1622Gly)
c.4861A>G (p.Arg1621Gly)
c.4777A>G (p.Arg1593Gly)
2g.229787585T>GCA431535030TRIP12c.4738A>C (p.Arg1580=)
c.4747A>C (p.Arg1583=)
c.4915A>C (p.Arg1639=)
c.4774A>C (p.Arg1592=)
c.*3079A>C (n.*3079A>C)
c.4789A>C (p.Arg1597=)
c.4903A>C (p.Arg1635=)
c.569A>C
c.*2399A>C (n.*2399A>C)
c.4638A>C
c.4693A>C (p.Arg1565=)
c.4918A>C (p.Arg1640=)
c.4690A>C (p.Arg1564=)
c.4834A>C (p.Arg1612=)
c.3880A>C (p.Arg1294=)
c.4837A>C (p.Arg1613=)
c.4831A>C (p.Arg1611=)
c.4792A>C (p.Arg1598=)
c.4708A>C (p.Arg1570=)
c.4900A>C (p.Arg1634=)
c.4813A>C (p.Arg1605=)
c.4819A>C (p.Arg1607=)
c.4750A>C (p.Arg1584=)
c.4990A>C (p.Arg1664=)
c.4987A>C (p.Arg1663=)
c.4909A>C (p.Arg1637=)
c.4906A>C (p.Arg1636=)
c.4864A>C (p.Arg1622=)
c.4861A>C (p.Arg1621=)
c.4777A>C (p.Arg1593=)
2g.229787586T>ACA350892700TRIP12c.4737A>T (p.Gln1579His)
c.4746A>T (p.Gln1582His)
c.4914A>T (p.Gln1638His)
c.4773A>T (p.Gln1591His)
c.*3078A>T (n.*3078A>T)
c.4788A>T (p.Gln1596His)
c.4902A>T (p.Gln1634His)
c.568A>T
c.*2398A>T (n.*2398A>T)
c.4637A>T
c.4692A>T (p.Gln1564His)
c.4917A>T (p.Gln1639His)
c.4689A>T (p.Gln1563His)
c.4833A>T (p.Gln1611His)
c.3879A>T (p.Gln1293His)
c.4836A>T (p.Gln1612His)
c.4830A>T (p.Gln1610His)
c.4791A>T (p.Gln1597His)
c.4707A>T (p.Gln1569His)
c.4899A>T (p.Gln1633His)
c.4812A>T (p.Gln1604His)
c.4818A>T (p.Gln1606His)
c.4749A>T (p.Gln1583His)
c.4989A>T (p.Gln1663His)
c.4986A>T (p.Gln1662His)
c.4908A>T (p.Gln1636His)
c.4905A>T (p.Gln1635His)
c.4863A>T (p.Gln1621His)
c.4860A>T (p.Gln1620His)
c.4776A>T (p.Gln1592His)
2g.229787586T>CCA2152434TRIP12c.4737A>G (p.Gln1579=)
c.4746A>G (p.Gln1582=)
c.4914A>G (p.Gln1638=)
c.4773A>G (p.Gln1591=)
c.*3078A>G (n.*3078A>G)
c.4788A>G (p.Gln1596=)
c.4902A>G (p.Gln1634=)
c.568A>G
c.*2398A>G (n.*2398A>G)
c.4637A>G
c.4692A>G (p.Gln1564=)
c.4917A>G (p.Gln1639=)
c.4689A>G (p.Gln1563=)
c.4833A>G (p.Gln1611=)
c.3879A>G (p.Gln1293=)
c.4836A>G (p.Gln1612=)
c.4830A>G (p.Gln1610=)
c.4791A>G (p.Gln1597=)
c.4707A>G (p.Gln1569=)
c.4899A>G (p.Gln1633=)
c.4812A>G (p.Gln1604=)
c.4818A>G (p.Gln1606=)
c.4749A>G (p.Gln1583=)
c.4989A>G (p.Gln1663=)
c.4986A>G (p.Gln1662=)
c.4908A>G (p.Gln1636=)
c.4905A>G (p.Gln1635=)
c.4863A>G (p.Gln1621=)
c.4860A>G (p.Gln1620=)
c.4776A>G (p.Gln1592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.229787586T>GCA350892710TRIP12c.4737A>C (p.Gln1579His)
c.4746A>C (p.Gln1582His)
c.4914A>C (p.Gln1638His)
c.4773A>C (p.Gln1591His)
c.*3078A>C (n.*3078A>C)
c.4788A>C (p.Gln1596His)
c.4902A>C (p.Gln1634His)
c.568A>C
c.*2398A>C (n.*2398A>C)
c.4637A>C
c.4692A>C (p.Gln1564His)
c.4917A>C (p.Gln1639His)
c.4689A>C (p.Gln1563His)
c.4833A>C (p.Gln1611His)
c.3879A>C (p.Gln1293His)
c.4836A>C (p.Gln1612His)
c.4830A>C (p.Gln1610His)
c.4791A>C (p.Gln1597His)
c.4707A>C (p.Gln1569His)
c.4899A>C (p.Gln1633His)
c.4812A>C (p.Gln1604His)
c.4818A>C (p.Gln1606His)
c.4749A>C (p.Gln1583His)
c.4989A>C (p.Gln1663His)
c.4986A>C (p.Gln1662His)
c.4908A>C (p.Gln1636His)
c.4905A>C (p.Gln1635His)
c.4863A>C (p.Gln1621His)
c.4860A>C (p.Gln1620His)
c.4776A>C (p.Gln1592His)
2g.229787586T=CA1334026973TRIP12c.4737A= (p.Gln1579=)
c.4746A= (p.Gln1582=)
c.4914A= (p.Gln1638=)
c.4773A= (p.Gln1591=)
c.*3078A= (n.*3078A=)
c.4788A= (p.Gln1596=)
c.4902A= (p.Gln1634=)
c.568A=
c.*2398A= (n.*2398A=)
c.4637A=
c.4692A= (p.Gln1564=)
c.4917A= (p.Gln1639=)
c.4689A= (p.Gln1563=)
c.4833A= (p.Gln1611=)
c.3879A= (p.Gln1293=)
c.4836A= (p.Gln1612=)
c.4830A= (p.Gln1610=)
c.4791A= (p.Gln1597=)
c.4707A= (p.Gln1569=)
c.4899A= (p.Gln1633=)
c.4812A= (p.Gln1604=)
c.4818A= (p.Gln1606=)
c.4749A= (p.Gln1583=)
c.4989A= (p.Gln1663=)
c.4986A= (p.Gln1662=)
c.4908A= (p.Gln1636=)
c.4905A= (p.Gln1635=)
c.4863A= (p.Gln1621=)
c.4860A= (p.Gln1620=)
c.4776A= (p.Gln1592=)
2g.229787587T>ACA350892712TRIP12c.4736A>T (p.Gln1579Leu)
c.4745A>T (p.Gln1582Leu)
c.4913A>T (p.Gln1638Leu)
c.4772A>T (p.Gln1591Leu)
c.*3077A>T (n.*3077A>T)
c.4787A>T (p.Gln1596Leu)
c.4901A>T (p.Gln1634Leu)
c.567A>T
c.*2397A>T (n.*2397A>T)
c.4636A>T
c.4691A>T (p.Gln1564Leu)
c.4916A>T (p.Gln1639Leu)
c.4688A>T (p.Gln1563Leu)
c.4832A>T (p.Gln1611Leu)
c.3878A>T (p.Gln1293Leu)
c.4835A>T (p.Gln1612Leu)
c.4829A>T (p.Gln1610Leu)
c.4790A>T (p.Gln1597Leu)
c.4706A>T (p.Gln1569Leu)
c.4898A>T (p.Gln1633Leu)
c.4811A>T (p.Gln1604Leu)
c.4817A>T (p.Gln1606Leu)
c.4748A>T (p.Gln1583Leu)
c.4988A>T (p.Gln1663Leu)
c.4985A>T (p.Gln1662Leu)
c.4907A>T (p.Gln1636Leu)
c.4904A>T (p.Gln1635Leu)
c.4862A>T (p.Gln1621Leu)
c.4859A>T (p.Gln1620Leu)
c.4775A>T (p.Gln1592Leu)
2g.229787587T>CCA350892713TRIP12c.4736A>G (p.Gln1579Arg)
c.4745A>G (p.Gln1582Arg)
c.4913A>G (p.Gln1638Arg)
c.4772A>G (p.Gln1591Arg)
c.*3077A>G (n.*3077A>G)
c.4787A>G (p.Gln1596Arg)
c.4901A>G (p.Gln1634Arg)
c.567A>G
c.*2397A>G (n.*2397A>G)
c.4636A>G
c.4691A>G (p.Gln1564Arg)
c.4916A>G (p.Gln1639Arg)
c.4688A>G (p.Gln1563Arg)
c.4832A>G (p.Gln1611Arg)
c.3878A>G (p.Gln1293Arg)
c.4835A>G (p.Gln1612Arg)
c.4829A>G (p.Gln1610Arg)
c.4790A>G (p.Gln1597Arg)
c.4706A>G (p.Gln1569Arg)
c.4898A>G (p.Gln1633Arg)
c.4811A>G (p.Gln1604Arg)
c.4817A>G (p.Gln1606Arg)
c.4748A>G (p.Gln1583Arg)
c.4988A>G (p.Gln1663Arg)
c.4985A>G (p.Gln1662Arg)
c.4907A>G (p.Gln1636Arg)
c.4904A>G (p.Gln1635Arg)
c.4862A>G (p.Gln1621Arg)
c.4859A>G (p.Gln1620Arg)
c.4775A>G (p.Gln1592Arg)
2g.229787587T>GCA350892714TRIP12c.4736A>C (p.Gln1579Pro)
c.4745A>C (p.Gln1582Pro)
c.4913A>C (p.Gln1638Pro)
c.4772A>C (p.Gln1591Pro)
c.*3077A>C (n.*3077A>C)
c.4787A>C (p.Gln1596Pro)
c.4901A>C (p.Gln1634Pro)
c.567A>C
c.*2397A>C (n.*2397A>C)
c.4636A>C
c.4691A>C (p.Gln1564Pro)
c.4916A>C (p.Gln1639Pro)
c.4688A>C (p.Gln1563Pro)
c.4832A>C (p.Gln1611Pro)
c.3878A>C (p.Gln1293Pro)
c.4835A>C (p.Gln1612Pro)
c.4829A>C (p.Gln1610Pro)
c.4790A>C (p.Gln1597Pro)
c.4706A>C (p.Gln1569Pro)
c.4898A>C (p.Gln1633Pro)
c.4811A>C (p.Gln1604Pro)
c.4817A>C (p.Gln1606Pro)
c.4748A>C (p.Gln1583Pro)
c.4988A>C (p.Gln1663Pro)
c.4985A>C (p.Gln1662Pro)
c.4907A>C (p.Gln1636Pro)
c.4904A>C (p.Gln1635Pro)
c.4862A>C (p.Gln1621Pro)
c.4859A>C (p.Gln1620Pro)
c.4775A>C (p.Gln1592Pro)
2g.229787588G>ACA350892719TRIP12c.4735C>T (p.Gln1579Ter)
c.4744C>T (p.Gln1582Ter)
c.4912C>T (p.Gln1638Ter)
c.4771C>T (p.Gln1591Ter)
c.*3076C>T (n.*3076C>T)
c.4786C>T (p.Gln1596Ter)
c.4900C>T (p.Gln1634Ter)
c.566C>T
c.*2396C>T (n.*2396C>T)
c.4635C>T
c.4690C>T (p.Gln1564Ter)
c.4915C>T (p.Gln1639Ter)
c.4687C>T (p.Gln1563Ter)
c.4831C>T (p.Gln1611Ter)
c.3877C>T (p.Gln1293Ter)
c.4834C>T (p.Gln1612Ter)
c.4828C>T (p.Gln1610Ter)
c.4789C>T (p.Gln1597Ter)
c.4705C>T (p.Gln1569Ter)
c.4897C>T (p.Gln1633Ter)
c.4810C>T (p.Gln1604Ter)
c.4816C>T (p.Gln1606Ter)
c.4747C>T (p.Gln1583Ter)
c.4987C>T (p.Gln1663Ter)
c.4984C>T (p.Gln1662Ter)
c.4906C>T (p.Gln1636Ter)
c.4903C>T (p.Gln1635Ter)
c.4861C>T (p.Gln1621Ter)
c.4858C>T (p.Gln1620Ter)
c.4774C>T (p.Gln1592Ter)
2g.229787588G>CCA350892715TRIP12c.4735C>G (p.Gln1579Glu)
c.4744C>G (p.Gln1582Glu)
c.4912C>G (p.Gln1638Glu)
c.4771C>G (p.Gln1591Glu)
c.*3076C>G (n.*3076C>G)
c.4786C>G (p.Gln1596Glu)
c.4900C>G (p.Gln1634Glu)
c.566C>G
c.*2396C>G (n.*2396C>G)
c.4635C>G
c.4690C>G (p.Gln1564Glu)
c.4915C>G (p.Gln1639Glu)
c.4687C>G (p.Gln1563Glu)
c.4831C>G (p.Gln1611Glu)
c.3877C>G (p.Gln1293Glu)
c.4834C>G (p.Gln1612Glu)
c.4828C>G (p.Gln1610Glu)
c.4789C>G (p.Gln1597Glu)
c.4705C>G (p.Gln1569Glu)
c.4897C>G (p.Gln1633Glu)
c.4810C>G (p.Gln1604Glu)
c.4816C>G (p.Gln1606Glu)
c.4747C>G (p.Gln1583Glu)
c.4987C>G (p.Gln1663Glu)
c.4984C>G (p.Gln1662Glu)
c.4906C>G (p.Gln1636Glu)
c.4903C>G (p.Gln1635Glu)
c.4861C>G (p.Gln1621Glu)
c.4858C>G (p.Gln1620Glu)
c.4774C>G (p.Gln1592Glu)
2g.229787588G>TCA350892717TRIP12c.4735C>A (p.Gln1579Lys)
c.4744C>A (p.Gln1582Lys)
c.4912C>A (p.Gln1638Lys)
c.4771C>A (p.Gln1591Lys)
c.*3076C>A (n.*3076C>A)
c.4786C>A (p.Gln1596Lys)
c.4900C>A (p.Gln1634Lys)
c.566C>A
c.*2396C>A (n.*2396C>A)
c.4635C>A
c.4690C>A (p.Gln1564Lys)
c.4915C>A (p.Gln1639Lys)
c.4687C>A (p.Gln1563Lys)
c.4831C>A (p.Gln1611Lys)
c.3877C>A (p.Gln1293Lys)
c.4834C>A (p.Gln1612Lys)
c.4828C>A (p.Gln1610Lys)
c.4789C>A (p.Gln1597Lys)
c.4705C>A (p.Gln1569Lys)
c.4897C>A (p.Gln1633Lys)
c.4810C>A (p.Gln1604Lys)
c.4816C>A (p.Gln1606Lys)
c.4747C>A (p.Gln1583Lys)
c.4987C>A (p.Gln1663Lys)
c.4984C>A (p.Gln1662Lys)
c.4906C>A (p.Gln1636Lys)
c.4903C>A (p.Gln1635Lys)
c.4861C>A (p.Gln1621Lys)
c.4858C>A (p.Gln1620Lys)
c.4774C>A (p.Gln1592Lys)
2g.229787589C>ACA350892721TRIP12c.4734G>T (p.Met1578Ile)
c.4743G>T (p.Met1581Ile)
c.4911G>T (p.Met1637Ile)
c.4770G>T (p.Met1590Ile)
c.*3075G>T (n.*3075G>T)
c.4785G>T (p.Met1595Ile)
c.4899G>T (p.Met1633Ile)
c.565G>T
c.*2395G>T (n.*2395G>T)
c.4634G>T
c.4689G>T (p.Met1563Ile)
c.4914G>T (p.Met1638Ile)
c.4686G>T (p.Met1562Ile)
c.4830G>T (p.Met1610Ile)
c.3876G>T (p.Met1292Ile)
c.4833G>T (p.Met1611Ile)
c.4827G>T (p.Met1609Ile)
c.4788G>T (p.Met1596Ile)
c.4704G>T (p.Met1568Ile)
c.4896G>T (p.Met1632Ile)
c.4809G>T (p.Met1603Ile)
c.4815G>T (p.Met1605Ile)
c.4746G>T (p.Met1582Ile)
c.4986G>T (p.Met1662Ile)
c.4983G>T (p.Met1661Ile)
c.4905G>T (p.Met1635Ile)
c.4902G>T (p.Met1634Ile)
c.4860G>T (p.Met1620Ile)
c.4857G>T (p.Met1619Ile)
c.4773G>T (p.Met1591Ile)
2g.229787589C>GCA350892723TRIP12c.4734G>C (p.Met1578Ile)
c.4743G>C (p.Met1581Ile)
c.4911G>C (p.Met1637Ile)
c.4770G>C (p.Met1590Ile)
c.*3075G>C (n.*3075G>C)
c.4785G>C (p.Met1595Ile)
c.4899G>C (p.Met1633Ile)
c.565G>C
c.*2395G>C (n.*2395G>C)
c.4634G>C
c.4689G>C (p.Met1563Ile)
c.4914G>C (p.Met1638Ile)
c.4686G>C (p.Met1562Ile)
c.4830G>C (p.Met1610Ile)
c.3876G>C (p.Met1292Ile)
c.4833G>C (p.Met1611Ile)
c.4827G>C (p.Met1609Ile)
c.4788G>C (p.Met1596Ile)
c.4704G>C (p.Met1568Ile)
c.4896G>C (p.Met1632Ile)
c.4809G>C (p.Met1603Ile)
c.4815G>C (p.Met1605Ile)
c.4746G>C (p.Met1582Ile)
c.4986G>C (p.Met1662Ile)
c.4983G>C (p.Met1661Ile)
c.4905G>C (p.Met1635Ile)
c.4902G>C (p.Met1634Ile)
c.4860G>C (p.Met1620Ile)
c.4857G>C (p.Met1619Ile)
c.4773G>C (p.Met1591Ile)
2g.229787589C>TCA350892732TRIP12c.4734G>A (p.Met1578Ile)
c.4743G>A (p.Met1581Ile)
c.4911G>A (p.Met1637Ile)
c.4770G>A (p.Met1590Ile)
c.*3075G>A (n.*3075G>A)
c.4785G>A (p.Met1595Ile)
c.4899G>A (p.Met1633Ile)
c.565G>A
c.*2395G>A (n.*2395G>A)
c.4634G>A
c.4689G>A (p.Met1563Ile)
c.4914G>A (p.Met1638Ile)
c.4686G>A (p.Met1562Ile)
c.4830G>A (p.Met1610Ile)
c.3876G>A (p.Met1292Ile)
c.4833G>A (p.Met1611Ile)
c.4827G>A (p.Met1609Ile)
c.4788G>A (p.Met1596Ile)
c.4704G>A (p.Met1568Ile)
c.4896G>A (p.Met1632Ile)
c.4809G>A (p.Met1603Ile)
c.4815G>A (p.Met1605Ile)
c.4746G>A (p.Met1582Ile)
c.4986G>A (p.Met1662Ile)
c.4983G>A (p.Met1661Ile)
c.4905G>A (p.Met1635Ile)
c.4902G>A (p.Met1634Ile)
c.4860G>A (p.Met1620Ile)
c.4857G>A (p.Met1619Ile)
c.4773G>A (p.Met1591Ile)
 dbSNP
2g.229787590A>CCA350892735TRIP12c.4733T>G (p.Met1578Arg)
c.4742T>G (p.Met1581Arg)
c.4910T>G (p.Met1637Arg)
c.4769T>G (p.Met1590Arg)
c.*3074T>G (n.*3074T>G)
c.4784T>G (p.Met1595Arg)
c.4898T>G (p.Met1633Arg)
c.564T>G
c.*2394T>G (n.*2394T>G)
c.4633T>G
c.4688T>G (p.Met1563Arg)
c.4913T>G (p.Met1638Arg)
c.4685T>G (p.Met1562Arg)
c.4829T>G (p.Met1610Arg)
c.3875T>G (p.Met1292Arg)
c.4832T>G (p.Met1611Arg)
c.4826T>G (p.Met1609Arg)
c.4787T>G (p.Met1596Arg)
c.4703T>G (p.Met1568Arg)
c.4895T>G (p.Met1632Arg)
c.4808T>G (p.Met1603Arg)
c.4814T>G (p.Met1605Arg)
c.4745T>G (p.Met1582Arg)
c.4985T>G (p.Met1662Arg)
c.4982T>G (p.Met1661Arg)
c.4904T>G (p.Met1635Arg)
c.4901T>G (p.Met1634Arg)
c.4859T>G (p.Met1620Arg)
c.4856T>G (p.Met1619Arg)
c.4772T>G (p.Met1591Arg)
2g.229787590A>GCA350892739TRIP12c.4733T>C (p.Met1578Thr)
c.4742T>C (p.Met1581Thr)
c.4910T>C (p.Met1637Thr)
c.4769T>C (p.Met1590Thr)
c.*3074T>C (n.*3074T>C)
c.4784T>C (p.Met1595Thr)
c.4898T>C (p.Met1633Thr)
c.564T>C
c.*2394T>C (n.*2394T>C)
c.4633T>C
c.4688T>C (p.Met1563Thr)
c.4913T>C (p.Met1638Thr)
c.4685T>C (p.Met1562Thr)
c.4829T>C (p.Met1610Thr)
c.3875T>C (p.Met1292Thr)
c.4832T>C (p.Met1611Thr)
c.4826T>C (p.Met1609Thr)
c.4787T>C (p.Met1596Thr)
c.4703T>C (p.Met1568Thr)
c.4895T>C (p.Met1632Thr)
c.4808T>C (p.Met1603Thr)
c.4814T>C (p.Met1605Thr)
c.4745T>C (p.Met1582Thr)
c.4985T>C (p.Met1662Thr)
c.4982T>C (p.Met1661Thr)
c.4904T>C (p.Met1635Thr)
c.4901T>C (p.Met1634Thr)
c.4859T>C (p.Met1620Thr)
c.4856T>C (p.Met1619Thr)
c.4772T>C (p.Met1591Thr)
2g.229787590A>TCA350892740TRIP12c.4733T>A (p.Met1578Lys)
c.4742T>A (p.Met1581Lys)
c.4910T>A (p.Met1637Lys)
c.4769T>A (p.Met1590Lys)
c.*3074T>A (n.*3074T>A)
c.4784T>A (p.Met1595Lys)
c.4898T>A (p.Met1633Lys)
c.564T>A
c.*2394T>A (n.*2394T>A)
c.4633T>A
c.4688T>A (p.Met1563Lys)
c.4913T>A (p.Met1638Lys)
c.4685T>A (p.Met1562Lys)
c.4829T>A (p.Met1610Lys)
c.3875T>A (p.Met1292Lys)
c.4832T>A (p.Met1611Lys)
c.4826T>A (p.Met1609Lys)
c.4787T>A (p.Met1596Lys)
c.4703T>A (p.Met1568Lys)
c.4895T>A (p.Met1632Lys)
c.4808T>A (p.Met1603Lys)
c.4814T>A (p.Met1605Lys)
c.4745T>A (p.Met1582Lys)
c.4985T>A (p.Met1662Lys)
c.4982T>A (p.Met1661Lys)
c.4904T>A (p.Met1635Lys)
c.4901T>A (p.Met1634Lys)
c.4859T>A (p.Met1620Lys)
c.4856T>A (p.Met1619Lys)
c.4772T>A (p.Met1591Lys)
2g.229787591T>ACA350892744TRIP12c.4732A>T (p.Met1578Leu)
c.4741A>T (p.Met1581Leu)
c.4909A>T (p.Met1637Leu)
c.4768A>T (p.Met1590Leu)
c.*3073A>T (n.*3073A>T)
c.4783A>T (p.Met1595Leu)
c.4897A>T (p.Met1633Leu)
c.563A>T
c.*2393A>T (n.*2393A>T)
c.4632A>T
c.4687A>T (p.Met1563Leu)
c.4912A>T (p.Met1638Leu)
c.4684A>T (p.Met1562Leu)
c.4828A>T (p.Met1610Leu)
c.3874A>T (p.Met1292Leu)
c.4831A>T (p.Met1611Leu)
c.4825A>T (p.Met1609Leu)
c.4786A>T (p.Met1596Leu)
c.4702A>T (p.Met1568Leu)
c.4894A>T (p.Met1632Leu)
c.4807A>T (p.Met1603Leu)
c.4813A>T (p.Met1605Leu)
c.4744A>T (p.Met1582Leu)
c.4984A>T (p.Met1662Leu)
c.4981A>T (p.Met1661Leu)
c.4903A>T (p.Met1635Leu)
c.4900A>T (p.Met1634Leu)
c.4858A>T (p.Met1620Leu)
c.4855A>T (p.Met1619Leu)
c.4771A>T (p.Met1591Leu)
 dbSNP
2g.229787591T>CCA350892750TRIP12c.4732A>G (p.Met1578Val)
c.4741A>G (p.Met1581Val)
c.4909A>G (p.Met1637Val)
c.4768A>G (p.Met1590Val)
c.*3073A>G (n.*3073A>G)
c.4783A>G (p.Met1595Val)
c.4897A>G (p.Met1633Val)
c.563A>G
c.*2393A>G (n.*2393A>G)
c.4632A>G
c.4687A>G (p.Met1563Val)
c.4912A>G (p.Met1638Val)
c.4684A>G (p.Met1562Val)
c.4828A>G (p.Met1610Val)
c.3874A>G (p.Met1292Val)
c.4831A>G (p.Met1611Val)
c.4825A>G (p.Met1609Val)
c.4786A>G (p.Met1596Val)
c.4702A>G (p.Met1568Val)
c.4894A>G (p.Met1632Val)
c.4807A>G (p.Met1603Val)
c.4813A>G (p.Met1605Val)
c.4744A>G (p.Met1582Val)
c.4984A>G (p.Met1662Val)
c.4981A>G (p.Met1661Val)
c.4903A>G (p.Met1635Val)
c.4900A>G (p.Met1634Val)
c.4858A>G (p.Met1620Val)
c.4855A>G (p.Met1619Val)
c.4771A>G (p.Met1591Val)
 ClinVar dbSNP
2g.229787591T>GCA350892752TRIP12c.4732A>C (p.Met1578Leu)
c.4741A>C (p.Met1581Leu)
c.4909A>C (p.Met1637Leu)
c.4768A>C (p.Met1590Leu)
c.*3073A>C (n.*3073A>C)
c.4783A>C (p.Met1595Leu)
c.4897A>C (p.Met1633Leu)
c.563A>C
c.*2393A>C (n.*2393A>C)
c.4632A>C
c.4687A>C (p.Met1563Leu)
c.4912A>C (p.Met1638Leu)
c.4684A>C (p.Met1562Leu)
c.4828A>C (p.Met1610Leu)
c.3874A>C (p.Met1292Leu)
c.4831A>C (p.Met1611Leu)
c.4825A>C (p.Met1609Leu)
c.4786A>C (p.Met1596Leu)
c.4702A>C (p.Met1568Leu)
c.4894A>C (p.Met1632Leu)
c.4807A>C (p.Met1603Leu)
c.4813A>C (p.Met1605Leu)
c.4744A>C (p.Met1582Leu)
c.4984A>C (p.Met1662Leu)
c.4981A>C (p.Met1661Leu)
c.4903A>C (p.Met1635Leu)
c.4900A>C (p.Met1634Leu)
c.4858A>C (p.Met1620Leu)
c.4855A>C (p.Met1619Leu)
c.4771A>C (p.Met1591Leu)
2g.229787591T=CA1334026974TRIP12c.4732A= (p.Met1578=)
c.4741A= (p.Met1581=)
c.4909A= (p.Met1637=)
c.4768A= (p.Met1590=)
c.*3073A= (n.*3073A=)
c.4783A= (p.Met1595=)
c.4897A= (p.Met1633=)
c.563A=
c.*2393A= (n.*2393A=)
c.4632A=
c.4687A= (p.Met1563=)
c.4912A= (p.Met1638=)
c.4684A= (p.Met1562=)
c.4828A= (p.Met1610=)
c.3874A= (p.Met1292=)
c.4831A= (p.Met1611=)
c.4825A= (p.Met1609=)
c.4786A= (p.Met1596=)
c.4702A= (p.Met1568=)
c.4894A= (p.Met1632=)
c.4807A= (p.Met1603=)
c.4813A= (p.Met1605=)
c.4744A= (p.Met1582=)
c.4984A= (p.Met1662=)
c.4981A= (p.Met1661=)
c.4903A= (p.Met1635=)
c.4900A= (p.Met1634=)
c.4858A= (p.Met1620=)
c.4855A= (p.Met1619=)
c.4771A= (p.Met1591=)
2g.229787592T>ACA431535031TRIP12c.4731A>T (p.Ala1577=)
c.4740A>T (p.Ala1580=)
c.4908A>T (p.Ala1636=)
c.4767A>T (p.Ala1589=)
c.*3072A>T (n.*3072A>T)
c.4782A>T (p.Ala1594=)
c.4896A>T (p.Ala1632=)
c.562A>T
c.*2392A>T (n.*2392A>T)
c.4631A>T
c.4686A>T (p.Ala1562=)
c.4911A>T (p.Ala1637=)
c.4683A>T (p.Ala1561=)
c.4827A>T (p.Ala1609=)
c.3873A>T (p.Ala1291=)
c.4830A>T (p.Ala1610=)
c.4824A>T (p.Ala1608=)
c.4785A>T (p.Ala1595=)
c.4701A>T (p.Ala1567=)
c.4893A>T (p.Ala1631=)
c.4806A>T (p.Ala1602=)
c.4812A>T (p.Ala1604=)
c.4743A>T (p.Ala1581=)
c.4983A>T (p.Ala1661=)
c.4980A>T (p.Ala1660=)
c.4902A>T (p.Ala1634=)
c.4899A>T (p.Ala1633=)
c.4857A>T (p.Ala1619=)
c.4854A>T (p.Ala1618=)
c.4770A>T (p.Ala1590=)
2g.229787592T>CCA431535032TRIP12c.4731A>G (p.Ala1577=)
c.4740A>G (p.Ala1580=)
c.4908A>G (p.Ala1636=)
c.4767A>G (p.Ala1589=)
c.*3072A>G (n.*3072A>G)
c.4782A>G (p.Ala1594=)
c.4896A>G (p.Ala1632=)
c.562A>G
c.*2392A>G (n.*2392A>G)
c.4631A>G
c.4686A>G (p.Ala1562=)
c.4911A>G (p.Ala1637=)
c.4683A>G (p.Ala1561=)
c.4827A>G (p.Ala1609=)
c.3873A>G (p.Ala1291=)
c.4830A>G (p.Ala1610=)
c.4824A>G (p.Ala1608=)
c.4785A>G (p.Ala1595=)
c.4701A>G (p.Ala1567=)
c.4893A>G (p.Ala1631=)
c.4806A>G (p.Ala1602=)
c.4812A>G (p.Ala1604=)
c.4743A>G (p.Ala1581=)
c.4983A>G (p.Ala1661=)
c.4980A>G (p.Ala1660=)
c.4902A>G (p.Ala1634=)
c.4899A>G (p.Ala1633=)
c.4857A>G (p.Ala1619=)
c.4854A>G (p.Ala1618=)
c.4770A>G (p.Ala1590=)
2g.229787592T>GCA2152435TRIP12c.4731A>C (p.Ala1577=)
c.4740A>C (p.Ala1580=)
c.4908A>C (p.Ala1636=)
c.4767A>C (p.Ala1589=)
c.*3072A>C (n.*3072A>C)
c.4782A>C (p.Ala1594=)
c.4896A>C (p.Ala1632=)
c.562A>C
c.*2392A>C (n.*2392A>C)
c.4631A>C
c.4686A>C (p.Ala1562=)
c.4911A>C (p.Ala1637=)
c.4683A>C (p.Ala1561=)
c.4827A>C (p.Ala1609=)
c.3873A>C (p.Ala1291=)
c.4830A>C (p.Ala1610=)
c.4824A>C (p.Ala1608=)
c.4785A>C (p.Ala1595=)
c.4701A>C (p.Ala1567=)
c.4893A>C (p.Ala1631=)
c.4806A>C (p.Ala1602=)
c.4812A>C (p.Ala1604=)
c.4743A>C (p.Ala1581=)
c.4983A>C (p.Ala1661=)
c.4980A>C (p.Ala1660=)
c.4902A>C (p.Ala1634=)
c.4899A>C (p.Ala1633=)
c.4857A>C (p.Ala1619=)
c.4854A>C (p.Ala1618=)
c.4770A>C (p.Ala1590=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.229787592T=CA1334026975TRIP12c.4731A= (p.Ala1577=)
c.4740A= (p.Ala1580=)
c.4908A= (p.Ala1636=)
c.4767A= (p.Ala1589=)
c.*3072A= (n.*3072A=)
c.4782A= (p.Ala1594=)
c.4896A= (p.Ala1632=)
c.562A=
c.*2392A= (n.*2392A=)
c.4631A=
c.4686A= (p.Ala1562=)
c.4911A= (p.Ala1637=)
c.4683A= (p.Ala1561=)
c.4827A= (p.Ala1609=)
c.3873A= (p.Ala1291=)
c.4830A= (p.Ala1610=)
c.4824A= (p.Ala1608=)
c.4785A= (p.Ala1595=)
c.4701A= (p.Ala1567=)
c.4893A= (p.Ala1631=)
c.4806A= (p.Ala1602=)
c.4812A= (p.Ala1604=)
c.4743A= (p.Ala1581=)
c.4983A= (p.Ala1661=)
c.4980A= (p.Ala1660=)
c.4902A= (p.Ala1634=)
c.4899A= (p.Ala1633=)
c.4857A= (p.Ala1619=)
c.4854A= (p.Ala1618=)
c.4770A= (p.Ala1590=)
2g.229787593G>ACA350892753TRIP12c.4730C>T (p.Ala1577Val)
c.4739C>T (p.Ala1580Val)
c.4907C>T (p.Ala1636Val)
c.4766C>T (p.Ala1589Val)
c.*3071C>T (n.*3071C>T)
c.4781C>T (p.Ala1594Val)
c.4895C>T (p.Ala1632Val)
c.561C>T
c.*2391C>T (n.*2391C>T)
c.4630C>T
c.4685C>T (p.Ala1562Val)
c.4910C>T (p.Ala1637Val)
c.4682C>T (p.Ala1561Val)
c.4826C>T (p.Ala1609Val)
c.3872C>T (p.Ala1291Val)
c.4829C>T (p.Ala1610Val)
c.4823C>T (p.Ala1608Val)
c.4784C>T (p.Ala1595Val)
c.4700C>T (p.Ala1567Val)
c.4892C>T (p.Ala1631Val)
c.4805C>T (p.Ala1602Val)
c.4811C>T (p.Ala1604Val)
c.4742C>T (p.Ala1581Val)
c.4982C>T (p.Ala1661Val)
c.4979C>T (p.Ala1660Val)
c.4901C>T (p.Ala1634Val)
c.4898C>T (p.Ala1633Val)
c.4856C>T (p.Ala1619Val)
c.4853C>T (p.Ala1618Val)
c.4769C>T (p.Ala1590Val)
2g.229787593G>CCA350892757TRIP12c.4730C>G (p.Ala1577Gly)
c.4739C>G (p.Ala1580Gly)
c.4907C>G (p.Ala1636Gly)
c.4766C>G (p.Ala1589Gly)
c.*3071C>G (n.*3071C>G)
c.4781C>G (p.Ala1594Gly)
c.4895C>G (p.Ala1632Gly)
c.561C>G
c.*2391C>G (n.*2391C>G)
c.4630C>G
c.4685C>G (p.Ala1562Gly)
c.4910C>G (p.Ala1637Gly)
c.4682C>G (p.Ala1561Gly)
c.4826C>G (p.Ala1609Gly)
c.3872C>G (p.Ala1291Gly)
c.4829C>G (p.Ala1610Gly)
c.4823C>G (p.Ala1608Gly)
c.4784C>G (p.Ala1595Gly)
c.4700C>G (p.Ala1567Gly)
c.4892C>G (p.Ala1631Gly)
c.4805C>G (p.Ala1602Gly)
c.4811C>G (p.Ala1604Gly)
c.4742C>G (p.Ala1581Gly)
c.4982C>G (p.Ala1661Gly)
c.4979C>G (p.Ala1660Gly)
c.4901C>G (p.Ala1634Gly)
c.4898C>G (p.Ala1633Gly)
c.4856C>G (p.Ala1619Gly)
c.4853C>G (p.Ala1618Gly)
c.4769C>G (p.Ala1590Gly)
2g.229787593G>TCA350892773TRIP12c.4730C>A (p.Ala1577Glu)
c.4739C>A (p.Ala1580Glu)
c.4907C>A (p.Ala1636Glu)
c.4766C>A (p.Ala1589Glu)
c.*3071C>A (n.*3071C>A)
c.4781C>A (p.Ala1594Glu)
c.4895C>A (p.Ala1632Glu)
c.561C>A
c.*2391C>A (n.*2391C>A)
c.4630C>A
c.4685C>A (p.Ala1562Glu)
c.4910C>A (p.Ala1637Glu)
c.4682C>A (p.Ala1561Glu)
c.4826C>A (p.Ala1609Glu)
c.3872C>A (p.Ala1291Glu)
c.4829C>A (p.Ala1610Glu)
c.4823C>A (p.Ala1608Glu)
c.4784C>A (p.Ala1595Glu)
c.4700C>A (p.Ala1567Glu)
c.4892C>A (p.Ala1631Glu)
c.4805C>A (p.Ala1602Glu)
c.4811C>A (p.Ala1604Glu)
c.4742C>A (p.Ala1581Glu)
c.4982C>A (p.Ala1661Glu)
c.4979C>A (p.Ala1660Glu)
c.4901C>A (p.Ala1634Glu)
c.4898C>A (p.Ala1633Glu)
c.4856C>A (p.Ala1619Glu)
c.4853C>A (p.Ala1618Glu)
c.4769C>A (p.Ala1590Glu)
2g.229787594C>ACA350892778TRIP12c.4729G>T (p.Ala1577Ser)
c.4738G>T (p.Ala1580Ser)
c.4906G>T (p.Ala1636Ser)
c.4765G>T (p.Ala1589Ser)
c.*3070G>T (n.*3070G>T)
c.4780G>T (p.Ala1594Ser)
c.4894G>T (p.Ala1632Ser)
c.560G>T
c.*2390G>T (n.*2390G>T)
c.4629G>T
c.4684G>T (p.Ala1562Ser)
c.4909G>T (p.Ala1637Ser)
c.4681G>T (p.Ala1561Ser)
c.4825G>T (p.Ala1609Ser)
c.3871G>T (p.Ala1291Ser)
c.4828G>T (p.Ala1610Ser)
c.4822G>T (p.Ala1608Ser)
c.4783G>T (p.Ala1595Ser)
c.4699G>T (p.Ala1567Ser)
c.4891G>T (p.Ala1631Ser)
c.4804G>T (p.Ala1602Ser)
c.4810G>T (p.Ala1604Ser)
c.4741G>T (p.Ala1581Ser)
c.4981G>T (p.Ala1661Ser)
c.4978G>T (p.Ala1660Ser)
c.4900G>T (p.Ala1634Ser)
c.4897G>T (p.Ala1633Ser)
c.4855G>T (p.Ala1619Ser)
c.4852G>T (p.Ala1618Ser)
c.4768G>T (p.Ala1590Ser)
2g.229787594C>GCA350892785TRIP12c.4729G>C (p.Ala1577Pro)
c.4738G>C (p.Ala1580Pro)
c.4906G>C (p.Ala1636Pro)
c.4765G>C (p.Ala1589Pro)
c.*3070G>C (n.*3070G>C)
c.4780G>C (p.Ala1594Pro)
c.4894G>C (p.Ala1632Pro)
c.560G>C
c.*2390G>C (n.*2390G>C)
c.4629G>C
c.4684G>C (p.Ala1562Pro)
c.4909G>C (p.Ala1637Pro)
c.4681G>C (p.Ala1561Pro)
c.4825G>C (p.Ala1609Pro)
c.3871G>C (p.Ala1291Pro)
c.4828G>C (p.Ala1610Pro)
c.4822G>C (p.Ala1608Pro)
c.4783G>C (p.Ala1595Pro)
c.4699G>C (p.Ala1567Pro)
c.4891G>C (p.Ala1631Pro)
c.4804G>C (p.Ala1602Pro)
c.4810G>C (p.Ala1604Pro)
c.4741G>C (p.Ala1581Pro)
c.4981G>C (p.Ala1661Pro)
c.4978G>C (p.Ala1660Pro)
c.4900G>C (p.Ala1634Pro)
c.4897G>C (p.Ala1633Pro)
c.4855G>C (p.Ala1619Pro)
c.4852G>C (p.Ala1618Pro)
c.4768G>C (p.Ala1590Pro)
2g.229787594C>TCA350892783TRIP12c.4729G>A (p.Ala1577Thr)
c.4738G>A (p.Ala1580Thr)
c.4906G>A (p.Ala1636Thr)
c.4765G>A (p.Ala1589Thr)
c.*3070G>A (n.*3070G>A)
c.4780G>A (p.Ala1594Thr)
c.4894G>A (p.Ala1632Thr)
c.560G>A
c.*2390G>A (n.*2390G>A)
c.4629G>A
c.4684G>A (p.Ala1562Thr)
c.4909G>A (p.Ala1637Thr)
c.4681G>A (p.Ala1561Thr)
c.4825G>A (p.Ala1609Thr)
c.3871G>A (p.Ala1291Thr)
c.4828G>A (p.Ala1610Thr)
c.4822G>A (p.Ala1608Thr)
c.4783G>A (p.Ala1595Thr)
c.4699G>A (p.Ala1567Thr)
c.4891G>A (p.Ala1631Thr)
c.4804G>A (p.Ala1602Thr)
c.4810G>A (p.Ala1604Thr)
c.4741G>A (p.Ala1581Thr)
c.4981G>A (p.Ala1661Thr)
c.4978G>A (p.Ala1660Thr)
c.4900G>A (p.Ala1634Thr)
c.4897G>A (p.Ala1633Thr)
c.4855G>A (p.Ala1619Thr)
c.4852G>A (p.Ala1618Thr)
c.4768G>A (p.Ala1590Thr)
2g.229787595T>ACA431535033TRIP12c.4728A>T (p.Arg1576=)
c.4737A>T (p.Arg1579=)
c.4905A>T (p.Arg1635=)
c.4764A>T (p.Arg1588=)
c.*3069A>T (n.*3069A>T)
c.4779A>T (p.Arg1593=)
c.4893A>T (p.Arg1631=)
c.559A>T
c.*2389A>T (n.*2389A>T)
c.4628A>T
c.4683A>T (p.Arg1561=)
c.4908A>T (p.Arg1636=)
c.4680A>T (p.Arg1560=)
c.4824A>T (p.Arg1608=)
c.3870A>T (p.Arg1290=)
c.4827A>T (p.Arg1609=)
c.4821A>T (p.Arg1607=)
c.4782A>T (p.Arg1594=)
c.4698A>T (p.Arg1566=)
c.4890A>T (p.Arg1630=)
c.4803A>T (p.Arg1601=)
c.4809A>T (p.Arg1603=)
c.4740A>T (p.Arg1580=)
c.4980A>T (p.Arg1660=)
c.4977A>T (p.Arg1659=)
c.4899A>T (p.Arg1633=)
c.4896A>T (p.Arg1632=)
c.4854A>T (p.Arg1618=)
c.4851A>T (p.Arg1617=)
c.4767A>T (p.Arg1589=)
2g.229787595T>CCA431535034TRIP12c.4728A>G (p.Arg1576=)
c.4737A>G (p.Arg1579=)
c.4905A>G (p.Arg1635=)
c.4764A>G (p.Arg1588=)
c.*3069A>G (n.*3069A>G)
c.4779A>G (p.Arg1593=)
c.4893A>G (p.Arg1631=)
c.559A>G
c.*2389A>G (n.*2389A>G)
c.4628A>G
c.4683A>G (p.Arg1561=)
c.4908A>G (p.Arg1636=)
c.4680A>G (p.Arg1560=)
c.4824A>G (p.Arg1608=)
c.3870A>G (p.Arg1290=)
c.4827A>G (p.Arg1609=)
c.4821A>G (p.Arg1607=)
c.4782A>G (p.Arg1594=)
c.4698A>G (p.Arg1566=)
c.4890A>G (p.Arg1630=)
c.4803A>G (p.Arg1601=)
c.4809A>G (p.Arg1603=)
c.4740A>G (p.Arg1580=)
c.4980A>G (p.Arg1660=)
c.4977A>G (p.Arg1659=)
c.4899A>G (p.Arg1633=)
c.4896A>G (p.Arg1632=)
c.4854A>G (p.Arg1618=)
c.4851A>G (p.Arg1617=)
c.4767A>G (p.Arg1589=)
2g.229787595T>GCA431535035TRIP12c.4728A>C (p.Arg1576=)
c.4737A>C (p.Arg1579=)
c.4905A>C (p.Arg1635=)
c.4764A>C (p.Arg1588=)
c.*3069A>C (n.*3069A>C)
c.4779A>C (p.Arg1593=)
c.4893A>C (p.Arg1631=)
c.559A>C
c.*2389A>C (n.*2389A>C)
c.4628A>C
c.4683A>C (p.Arg1561=)
c.4908A>C (p.Arg1636=)
c.4680A>C (p.Arg1560=)
c.4824A>C (p.Arg1608=)
c.3870A>C (p.Arg1290=)
c.4827A>C (p.Arg1609=)
c.4821A>C (p.Arg1607=)
c.4782A>C (p.Arg1594=)
c.4698A>C (p.Arg1566=)
c.4890A>C (p.Arg1630=)
c.4803A>C (p.Arg1601=)
c.4809A>C (p.Arg1603=)
c.4740A>C (p.Arg1580=)
c.4980A>C (p.Arg1660=)
c.4977A>C (p.Arg1659=)
c.4899A>C (p.Arg1633=)
c.4896A>C (p.Arg1632=)
c.4854A>C (p.Arg1618=)
c.4851A>C (p.Arg1617=)
c.4767A>C (p.Arg1589=)
2g.229787596C>ACA350892796TRIP12c.4727G>T (p.Arg1576Leu)
c.4736G>T (p.Arg1579Leu)
c.4904G>T (p.Arg1635Leu)
c.4763G>T (p.Arg1588Leu)
c.*3068G>T (n.*3068G>T)
c.4778G>T (p.Arg1593Leu)
c.4892G>T (p.Arg1631Leu)
c.558G>T
c.*2388G>T (n.*2388G>T)
c.4627G>T
c.4682G>T (p.Arg1561Leu)
c.4907G>T (p.Arg1636Leu)
c.4679G>T (p.Arg1560Leu)
c.4823G>T (p.Arg1608Leu)
c.3869G>T (p.Arg1290Leu)
c.4826G>T (p.Arg1609Leu)
c.4820G>T (p.Arg1607Leu)
c.4781G>T (p.Arg1594Leu)
c.4697G>T (p.Arg1566Leu)
c.4889G>T (p.Arg1630Leu)
c.4802G>T (p.Arg1601Leu)
c.4808G>T (p.Arg1603Leu)
c.4739G>T (p.Arg1580Leu)
c.4979G>T (p.Arg1660Leu)
c.4976G>T (p.Arg1659Leu)
c.4898G>T (p.Arg1633Leu)
c.4895G>T (p.Arg1632Leu)
c.4853G>T (p.Arg1618Leu)
c.4850G>T (p.Arg1617Leu)
c.4766G>T (p.Arg1589Leu)
 COSMIC
2g.229787596C>GCA350892803TRIP12c.4727G>C (p.Arg1576Pro)
c.4736G>C (p.Arg1579Pro)
c.4904G>C (p.Arg1635Pro)
c.4763G>C (p.Arg1588Pro)
c.*3068G>C (n.*3068G>C)
c.4778G>C (p.Arg1593Pro)
c.4892G>C (p.Arg1631Pro)
c.558G>C
c.*2388G>C (n.*2388G>C)
c.4627G>C
c.4682G>C (p.Arg1561Pro)
c.4907G>C (p.Arg1636Pro)
c.4679G>C (p.Arg1560Pro)
c.4823G>C (p.Arg1608Pro)
c.3869G>C (p.Arg1290Pro)
c.4826G>C (p.Arg1609Pro)
c.4820G>C (p.Arg1607Pro)
c.4781G>C (p.Arg1594Pro)
c.4697G>C (p.Arg1566Pro)
c.4889G>C (p.Arg1630Pro)
c.4802G>C (p.Arg1601Pro)
c.4808G>C (p.Arg1603Pro)
c.4739G>C (p.Arg1580Pro)
c.4979G>C (p.Arg1660Pro)
c.4976G>C (p.Arg1659Pro)
c.4898G>C (p.Arg1633Pro)
c.4895G>C (p.Arg1632Pro)
c.4853G>C (p.Arg1618Pro)
c.4850G>C (p.Arg1617Pro)
c.4766G>C (p.Arg1589Pro)
2g.229787596C>TCA350892801TRIP12c.4727G>A (p.Arg1576Gln)
c.4736G>A (p.Arg1579Gln)
c.4904G>A (p.Arg1635Gln)
c.4763G>A (p.Arg1588Gln)
c.*3068G>A (n.*3068G>A)
c.4778G>A (p.Arg1593Gln)
c.4892G>A (p.Arg1631Gln)
c.558G>A
c.*2388G>A (n.*2388G>A)
c.4627G>A
c.4682G>A (p.Arg1561Gln)
c.4907G>A (p.Arg1636Gln)
c.4679G>A (p.Arg1560Gln)
c.4823G>A (p.Arg1608Gln)
c.3869G>A (p.Arg1290Gln)
c.4826G>A (p.Arg1609Gln)
c.4820G>A (p.Arg1607Gln)
c.4781G>A (p.Arg1594Gln)
c.4697G>A (p.Arg1566Gln)
c.4889G>A (p.Arg1630Gln)
c.4802G>A (p.Arg1601Gln)
c.4808G>A (p.Arg1603Gln)
c.4739G>A (p.Arg1580Gln)
c.4979G>A (p.Arg1660Gln)
c.4976G>A (p.Arg1659Gln)
c.4898G>A (p.Arg1633Gln)
c.4895G>A (p.Arg1632Gln)
c.4853G>A (p.Arg1618Gln)
c.4850G>A (p.Arg1617Gln)
c.4766G>A (p.Arg1589Gln)
 ClinVar dbSNP gnomAD v4
2g.229787597G>ACA350892810TRIP12c.4726C>T (p.Arg1576Ter)
c.4735C>T (p.Arg1579Ter)
c.4903C>T (p.Arg1635Ter)
c.4762C>T (p.Arg1588Ter)
c.*3067C>T (n.*3067C>T)
c.4777C>T (p.Arg1593Ter)
c.4891C>T (p.Arg1631Ter)
c.557C>T
c.*2387C>T (n.*2387C>T)
c.4626C>T
c.4681C>T (p.Arg1561Ter)
c.4906C>T (p.Arg1636Ter)
c.4678C>T (p.Arg1560Ter)
c.4822C>T (p.Arg1608Ter)
c.3868C>T (p.Arg1290Ter)
c.4825C>T (p.Arg1609Ter)
c.4819C>T (p.Arg1607Ter)
c.4780C>T (p.Arg1594Ter)
c.4696C>T (p.Arg1566Ter)
c.4888C>T (p.Arg1630Ter)
c.4801C>T (p.Arg1601Ter)
c.4807C>T (p.Arg1603Ter)
c.4738C>T (p.Arg1580Ter)
c.4978C>T (p.Arg1660Ter)
c.4975C>T (p.Arg1659Ter)
c.4897C>T (p.Arg1633Ter)
c.4894C>T (p.Arg1632Ter)
c.4852C>T (p.Arg1618Ter)
c.4849C>T (p.Arg1617Ter)
c.4765C>T (p.Arg1589Ter)
 ClinVar dbSNP
2g.229787597G>CCA350892815TRIP12c.4726C>G (p.Arg1576Gly)
c.4735C>G (p.Arg1579Gly)
c.4903C>G (p.Arg1635Gly)
c.4762C>G (p.Arg1588Gly)
c.*3067C>G (n.*3067C>G)
c.4777C>G (p.Arg1593Gly)
c.4891C>G (p.Arg1631Gly)
c.557C>G
c.*2387C>G (n.*2387C>G)
c.4626C>G
c.4681C>G (p.Arg1561Gly)
c.4906C>G (p.Arg1636Gly)
c.4678C>G (p.Arg1560Gly)
c.4822C>G (p.Arg1608Gly)
c.3868C>G (p.Arg1290Gly)
c.4825C>G (p.Arg1609Gly)
c.4819C>G (p.Arg1607Gly)
c.4780C>G (p.Arg1594Gly)
c.4696C>G (p.Arg1566Gly)
c.4888C>G (p.Arg1630Gly)
c.4801C>G (p.Arg1601Gly)
c.4807C>G (p.Arg1603Gly)
c.4738C>G (p.Arg1580Gly)
c.4978C>G (p.Arg1660Gly)
c.4975C>G (p.Arg1659Gly)
c.4897C>G (p.Arg1633Gly)
c.4894C>G (p.Arg1632Gly)
c.4852C>G (p.Arg1618Gly)
c.4849C>G (p.Arg1617Gly)
c.4765C>G (p.Arg1589Gly)
2g.229787597G=CA1334026976TRIP12c.4726C= (p.Arg1576=)
c.4735C= (p.Arg1579=)
c.4903C= (p.Arg1635=)
c.4762C= (p.Arg1588=)
c.*3067C= (n.*3067C=)
c.4777C= (p.Arg1593=)
c.4891C= (p.Arg1631=)
c.557C=
c.*2387C= (n.*2387C=)
c.4626C=
c.4681C= (p.Arg1561=)
c.4906C= (p.Arg1636=)
c.4678C= (p.Arg1560=)
c.4822C= (p.Arg1608=)
c.3868C= (p.Arg1290=)
c.4825C= (p.Arg1609=)
c.4819C= (p.Arg1607=)
c.4780C= (p.Arg1594=)
c.4696C= (p.Arg1566=)
c.4888C= (p.Arg1630=)
c.4801C= (p.Arg1601=)
c.4807C= (p.Arg1603=)
c.4738C= (p.Arg1580=)
c.4978C= (p.Arg1660=)
c.4975C= (p.Arg1659=)
c.4897C= (p.Arg1633=)
c.4894C= (p.Arg1632=)
c.4852C= (p.Arg1618=)
c.4849C= (p.Arg1617=)
c.4765C= (p.Arg1589=)
2g.229787597G>TCA431535036TRIP12c.4726C>A (p.Arg1576=)
c.4735C>A (p.Arg1579=)
c.4903C>A (p.Arg1635=)
c.4762C>A (p.Arg1588=)
c.*3067C>A (n.*3067C>A)
c.4777C>A (p.Arg1593=)
c.4891C>A (p.Arg1631=)
c.557C>A
c.*2387C>A (n.*2387C>A)
c.4626C>A
c.4681C>A (p.Arg1561=)
c.4906C>A (p.Arg1636=)
c.4678C>A (p.Arg1560=)
c.4822C>A (p.Arg1608=)
c.3868C>A (p.Arg1290=)
c.4825C>A (p.Arg1609=)
c.4819C>A (p.Arg1607=)
c.4780C>A (p.Arg1594=)
c.4696C>A (p.Arg1566=)
c.4888C>A (p.Arg1630=)
c.4801C>A (p.Arg1601=)
c.4807C>A (p.Arg1603=)
c.4738C>A (p.Arg1580=)
c.4978C>A (p.Arg1660=)
c.4975C>A (p.Arg1659=)
c.4897C>A (p.Arg1633=)
c.4894C>A (p.Arg1632=)
c.4852C>A (p.Arg1618=)
c.4849C>A (p.Arg1617=)
c.4765C>A (p.Arg1589=)
2g.229787598G>ACA431535037TRIP12c.4725C>T (p.Asp1575=)
c.4734C>T (p.Asp1578=)
c.4902C>T (p.Asp1634=)
c.4761C>T (p.Asp1587=)
c.*3066C>T (n.*3066C>T)
c.4776C>T (p.Asp1592=)
c.4890C>T (p.Asp1630=)
c.556C>T
c.*2386C>T (n.*2386C>T)
c.4625C>T
c.4680C>T (p.Asp1560=)
c.4905C>T (p.Asp1635=)
c.4677C>T (p.Asp1559=)
c.4821C>T (p.Asp1607=)
c.3867C>T (p.Asp1289=)
c.4824C>T (p.Asp1608=)
c.4818C>T (p.Asp1606=)
c.4779C>T (p.Asp1593=)
c.4695C>T (p.Asp1565=)
c.4887C>T (p.Asp1629=)
c.4800C>T (p.Asp1600=)
c.4806C>T (p.Asp1602=)
c.4737C>T (p.Asp1579=)
c.4977C>T (p.Asp1659=)
c.4974C>T (p.Asp1658=)
c.4896C>T (p.Asp1632=)
c.4893C>T (p.Asp1631=)
c.4851C>T (p.Asp1617=)
c.4848C>T (p.Asp1616=)
c.4764C>T (p.Asp1588=)
2g.229787598G>CCA350892817TRIP12c.4725C>G (p.Asp1575Glu)
c.4734C>G (p.Asp1578Glu)
c.4902C>G (p.Asp1634Glu)
c.4761C>G (p.Asp1587Glu)
c.*3066C>G (n.*3066C>G)
c.4776C>G (p.Asp1592Glu)
c.4890C>G (p.Asp1630Glu)
c.556C>G
c.*2386C>G (n.*2386C>G)
c.4625C>G
c.4680C>G (p.Asp1560Glu)
c.4905C>G (p.Asp1635Glu)
c.4677C>G (p.Asp1559Glu)
c.4821C>G (p.Asp1607Glu)
c.3867C>G (p.Asp1289Glu)
c.4824C>G (p.Asp1608Glu)
c.4818C>G (p.Asp1606Glu)
c.4779C>G (p.Asp1593Glu)
c.4695C>G (p.Asp1565Glu)
c.4887C>G (p.Asp1629Glu)
c.4800C>G (p.Asp1600Glu)
c.4806C>G (p.Asp1602Glu)
c.4737C>G (p.Asp1579Glu)
c.4977C>G (p.Asp1659Glu)
c.4974C>G (p.Asp1658Glu)
c.4896C>G (p.Asp1632Glu)
c.4893C>G (p.Asp1631Glu)
c.4851C>G (p.Asp1617Glu)
c.4848C>G (p.Asp1616Glu)
c.4764C>G (p.Asp1588Glu)
2g.229787598G>TCA350892818TRIP12c.4725C>A (p.Asp1575Glu)
c.4734C>A (p.Asp1578Glu)
c.4902C>A (p.Asp1634Glu)
c.4761C>A (p.Asp1587Glu)
c.*3066C>A (n.*3066C>A)
c.4776C>A (p.Asp1592Glu)
c.4890C>A (p.Asp1630Glu)
c.556C>A
c.*2386C>A (n.*2386C>A)
c.4625C>A
c.4680C>A (p.Asp1560Glu)
c.4905C>A (p.Asp1635Glu)
c.4677C>A (p.Asp1559Glu)
c.4821C>A (p.Asp1607Glu)
c.3867C>A (p.Asp1289Glu)
c.4824C>A (p.Asp1608Glu)
c.4818C>A (p.Asp1606Glu)
c.4779C>A (p.Asp1593Glu)
c.4695C>A (p.Asp1565Glu)
c.4887C>A (p.Asp1629Glu)
c.4800C>A (p.Asp1600Glu)
c.4806C>A (p.Asp1602Glu)
c.4737C>A (p.Asp1579Glu)
c.4977C>A (p.Asp1659Glu)
c.4974C>A (p.Asp1658Glu)
c.4896C>A (p.Asp1632Glu)
c.4893C>A (p.Asp1631Glu)
c.4851C>A (p.Asp1617Glu)
c.4848C>A (p.Asp1616Glu)
c.4764C>A (p.Asp1588Glu)
2g.229787599T>ACA350892821TRIP12c.4724A>T (p.Asp1575Val)
c.4733A>T (p.Asp1578Val)
c.4901A>T (p.Asp1634Val)
c.4760A>T (p.Asp1587Val)
c.*3065A>T (n.*3065A>T)
c.4775A>T (p.Asp1592Val)
c.4889A>T (p.Asp1630Val)
c.555A>T
c.*2385A>T (n.*2385A>T)
c.4624A>T
c.4679A>T (p.Asp1560Val)
c.4904A>T (p.Asp1635Val)
c.4676A>T (p.Asp1559Val)
c.4820A>T (p.Asp1607Val)
c.3866A>T (p.Asp1289Val)
c.4823A>T (p.Asp1608Val)
c.4817A>T (p.Asp1606Val)
c.4778A>T (p.Asp1593Val)
c.4694A>T (p.Asp1565Val)
c.4886A>T (p.Asp1629Val)
c.4799A>T (p.Asp1600Val)
c.4805A>T (p.Asp1602Val)
c.4736A>T (p.Asp1579Val)
c.4976A>T (p.Asp1659Val)
c.4973A>T (p.Asp1658Val)
c.4895A>T (p.Asp1632Val)
c.4892A>T (p.Asp1631Val)
c.4850A>T (p.Asp1617Val)
c.4847A>T (p.Asp1616Val)
c.4763A>T (p.Asp1588Val)
2g.229787599T>CCA350892823TRIP12c.4724A>G (p.Asp1575Gly)
c.4733A>G (p.Asp1578Gly)
c.4901A>G (p.Asp1634Gly)
c.4760A>G (p.Asp1587Gly)
c.*3065A>G (n.*3065A>G)
c.4775A>G (p.Asp1592Gly)
c.4889A>G (p.Asp1630Gly)
c.555A>G
c.*2385A>G (n.*2385A>G)
c.4624A>G
c.4679A>G (p.Asp1560Gly)
c.4904A>G (p.Asp1635Gly)
c.4676A>G (p.Asp1559Gly)
c.4820A>G (p.Asp1607Gly)
c.3866A>G (p.Asp1289Gly)
c.4823A>G (p.Asp1608Gly)
c.4817A>G (p.Asp1606Gly)
c.4778A>G (p.Asp1593Gly)
c.4694A>G (p.Asp1565Gly)
c.4886A>G (p.Asp1629Gly)
c.4799A>G (p.Asp1600Gly)
c.4805A>G (p.Asp1602Gly)
c.4736A>G (p.Asp1579Gly)
c.4976A>G (p.Asp1659Gly)
c.4973A>G (p.Asp1658Gly)
c.4895A>G (p.Asp1632Gly)
c.4892A>G (p.Asp1631Gly)
c.4850A>G (p.Asp1617Gly)
c.4847A>G (p.Asp1616Gly)
c.4763A>G (p.Asp1588Gly)
2g.229787599T>GCA350892827TRIP12c.4724A>C (p.Asp1575Ala)
c.4733A>C (p.Asp1578Ala)
c.4901A>C (p.Asp1634Ala)
c.4760A>C (p.Asp1587Ala)
c.*3065A>C (n.*3065A>C)
c.4775A>C (p.Asp1592Ala)
c.4889A>C (p.Asp1630Ala)
c.555A>C
c.*2385A>C (n.*2385A>C)
c.4624A>C
c.4679A>C (p.Asp1560Ala)
c.4904A>C (p.Asp1635Ala)
c.4676A>C (p.Asp1559Ala)
c.4820A>C (p.Asp1607Ala)
c.3866A>C (p.Asp1289Ala)
c.4823A>C (p.Asp1608Ala)
c.4817A>C (p.Asp1606Ala)
c.4778A>C (p.Asp1593Ala)
c.4694A>C (p.Asp1565Ala)
c.4886A>C (p.Asp1629Ala)
c.4799A>C (p.Asp1600Ala)
c.4805A>C (p.Asp1602Ala)
c.4736A>C (p.Asp1579Ala)
c.4976A>C (p.Asp1659Ala)
c.4973A>C (p.Asp1658Ala)
c.4895A>C (p.Asp1632Ala)
c.4892A>C (p.Asp1631Ala)
c.4850A>C (p.Asp1617Ala)
c.4847A>C (p.Asp1616Ala)
c.4763A>C (p.Asp1588Ala)
2g.229787600C>ACA350892829TRIP12c.4723G>T (p.Asp1575Tyr)
c.4732G>T (p.Asp1578Tyr)
c.4900G>T (p.Asp1634Tyr)
c.4759G>T (p.Asp1587Tyr)
c.*3064G>T (n.*3064G>T)
c.4774G>T (p.Asp1592Tyr)
c.4888G>T (p.Asp1630Tyr)
c.554G>T
c.*2384G>T (n.*2384G>T)
c.4623G>T
c.4678G>T (p.Asp1560Tyr)
c.4903G>T (p.Asp1635Tyr)
c.4675G>T (p.Asp1559Tyr)
c.4819G>T (p.Asp1607Tyr)
c.3865G>T (p.Asp1289Tyr)
c.4822G>T (p.Asp1608Tyr)
c.4816G>T (p.Asp1606Tyr)
c.4777G>T (p.Asp1593Tyr)
c.4693G>T (p.Asp1565Tyr)
c.4885G>T (p.Asp1629Tyr)
c.4798G>T (p.Asp1600Tyr)
c.4804G>T (p.Asp1602Tyr)
c.4735G>T (p.Asp1579Tyr)
c.4975G>T (p.Asp1659Tyr)
c.4972G>T (p.Asp1658Tyr)
c.4894G>T (p.Asp1632Tyr)
c.4891G>T (p.Asp1631Tyr)
c.4849G>T (p.Asp1617Tyr)
c.4846G>T (p.Asp1616Tyr)
c.4762G>T (p.Asp1588Tyr)
2g.229787600C>GCA350892830TRIP12c.4723G>C (p.Asp1575His)
c.4732G>C (p.Asp1578His)
c.4900G>C (p.Asp1634His)
c.4759G>C (p.Asp1587His)
c.*3064G>C (n.*3064G>C)
c.4774G>C (p.Asp1592His)
c.4888G>C (p.Asp1630His)
c.554G>C
c.*2384G>C (n.*2384G>C)
c.4623G>C
c.4678G>C (p.Asp1560His)
c.4903G>C (p.Asp1635His)
c.4675G>C (p.Asp1559His)
c.4819G>C (p.Asp1607His)
c.3865G>C (p.Asp1289His)
c.4822G>C (p.Asp1608His)
c.4816G>C (p.Asp1606His)
c.4777G>C (p.Asp1593His)
c.4693G>C (p.Asp1565His)
c.4885G>C (p.Asp1629His)
c.4798G>C (p.Asp1600His)
c.4804G>C (p.Asp1602His)
c.4735G>C (p.Asp1579His)
c.4975G>C (p.Asp1659His)
c.4972G>C (p.Asp1658His)
c.4894G>C (p.Asp1632His)
c.4891G>C (p.Asp1631His)
c.4849G>C (p.Asp1617His)
c.4846G>C (p.Asp1616His)
c.4762G>C (p.Asp1588His)
2g.229787600C>TCA350892831TRIP12c.4723G>A (p.Asp1575Asn)
c.4732G>A (p.Asp1578Asn)
c.4900G>A (p.Asp1634Asn)
c.4759G>A (p.Asp1587Asn)
c.*3064G>A (n.*3064G>A)
c.4774G>A (p.Asp1592Asn)
c.4888G>A (p.Asp1630Asn)
c.554G>A
c.*2384G>A (n.*2384G>A)
c.4623G>A
c.4678G>A (p.Asp1560Asn)
c.4903G>A (p.Asp1635Asn)
c.4675G>A (p.Asp1559Asn)
c.4819G>A (p.Asp1607Asn)
c.3865G>A (p.Asp1289Asn)
c.4822G>A (p.Asp1608Asn)
c.4816G>A (p.Asp1606Asn)
c.4777G>A (p.Asp1593Asn)
c.4693G>A (p.Asp1565Asn)
c.4885G>A (p.Asp1629Asn)
c.4798G>A (p.Asp1600Asn)
c.4804G>A (p.Asp1602Asn)
c.4735G>A (p.Asp1579Asn)
c.4975G>A (p.Asp1659Asn)
c.4972G>A (p.Asp1658Asn)
c.4894G>A (p.Asp1632Asn)
c.4891G>A (p.Asp1631Asn)
c.4849G>A (p.Asp1617Asn)
c.4846G>A (p.Asp1616Asn)
c.4762G>A (p.Asp1588Asn)
2g.229787601C>ACA431535038TRIP12c.4722G>T (p.Arg1574=)
c.4731G>T (p.Arg1577=)
c.4899G>T (p.Arg1633=)
c.4758G>T (p.Arg1586=)
c.*3063G>T (n.*3063G>T)
c.4773G>T (p.Arg1591=)
c.4887G>T (p.Arg1629=)
c.553G>T
c.*2383G>T (n.*2383G>T)
c.4622G>T
c.4677G>T (p.Arg1559=)
c.4902G>T (p.Arg1634=)
c.4674G>T (p.Arg1558=)
c.4818G>T (p.Arg1606=)
c.3864G>T (p.Arg1288=)
c.4821G>T (p.Arg1607=)
c.4815G>T (p.Arg1605=)
c.4776G>T (p.Arg1592=)
c.4692G>T (p.Arg1564=)
c.4884G>T (p.Arg1628=)
c.4797G>T (p.Arg1599=)
c.4803G>T (p.Arg1601=)
c.4734G>T (p.Arg1578=)
c.4974G>T (p.Arg1658=)
c.4971G>T (p.Arg1657=)
c.4893G>T (p.Arg1631=)
c.4890G>T (p.Arg1630=)
c.4848G>T (p.Arg1616=)
c.4845G>T (p.Arg1615=)
c.4761G>T (p.Arg1587=)
2g.229787601C>GCA431535039TRIP12c.4722G>C (p.Arg1574=)
c.4731G>C (p.Arg1577=)
c.4899G>C (p.Arg1633=)
c.4758G>C (p.Arg1586=)
c.*3063G>C (n.*3063G>C)
c.4773G>C (p.Arg1591=)
c.4887G>C (p.Arg1629=)
c.553G>C
c.*2383G>C (n.*2383G>C)
c.4622G>C
c.4677G>C (p.Arg1559=)
c.4902G>C (p.Arg1634=)
c.4674G>C (p.Arg1558=)
c.4818G>C (p.Arg1606=)
c.3864G>C (p.Arg1288=)
c.4821G>C (p.Arg1607=)
c.4815G>C (p.Arg1605=)
c.4776G>C (p.Arg1592=)
c.4692G>C (p.Arg1564=)
c.4884G>C (p.Arg1628=)
c.4797G>C (p.Arg1599=)
c.4803G>C (p.Arg1601=)
c.4734G>C (p.Arg1578=)
c.4974G>C (p.Arg1658=)
c.4971G>C (p.Arg1657=)
c.4893G>C (p.Arg1631=)
c.4890G>C (p.Arg1630=)
c.4848G>C (p.Arg1616=)
c.4845G>C (p.Arg1615=)
c.4761G>C (p.Arg1587=)
2g.229787601C>TCA431535040TRIP12c.4722G>A (p.Arg1574=)
c.4731G>A (p.Arg1577=)
c.4899G>A (p.Arg1633=)
c.4758G>A (p.Arg1586=)
c.*3063G>A (n.*3063G>A)
c.4773G>A (p.Arg1591=)
c.4887G>A (p.Arg1629=)
c.553G>A
c.*2383G>A (n.*2383G>A)
c.4622G>A
c.4677G>A (p.Arg1559=)
c.4902G>A (p.Arg1634=)
c.4674G>A (p.Arg1558=)
c.4818G>A (p.Arg1606=)
c.3864G>A (p.Arg1288=)
c.4821G>A (p.Arg1607=)
c.4815G>A (p.Arg1605=)
c.4776G>A (p.Arg1592=)
c.4692G>A (p.Arg1564=)
c.4884G>A (p.Arg1628=)
c.4797G>A (p.Arg1599=)
c.4803G>A (p.Arg1601=)
c.4734G>A (p.Arg1578=)
c.4974G>A (p.Arg1658=)
c.4971G>A (p.Arg1657=)
c.4893G>A (p.Arg1631=)
c.4890G>A (p.Arg1630=)
c.4848G>A (p.Arg1616=)
c.4845G>A (p.Arg1615=)
c.4761G>A (p.Arg1587=)
2g.229787602C>ACA350892836TRIP12c.4721G>T (p.Arg1574Leu)
c.4730G>T (p.Arg1577Leu)
c.4898G>T (p.Arg1633Leu)
c.4757G>T (p.Arg1586Leu)
c.*3062G>T (n.*3062G>T)
c.4772G>T (p.Arg1591Leu)
c.4886G>T (p.Arg1629Leu)
c.552G>T
c.*2382G>T (n.*2382G>T)
c.4621G>T
c.4676G>T (p.Arg1559Leu)
c.4901G>T (p.Arg1634Leu)
c.4673G>T (p.Arg1558Leu)
c.4817G>T (p.Arg1606Leu)
c.3863G>T (p.Arg1288Leu)
c.4820G>T (p.Arg1607Leu)
c.4814G>T (p.Arg1605Leu)
c.4775G>T (p.Arg1592Leu)
c.4691G>T (p.Arg1564Leu)
c.4883G>T (p.Arg1628Leu)
c.4796G>T (p.Arg1599Leu)
c.4802G>T (p.Arg1601Leu)
c.4733G>T (p.Arg1578Leu)
c.4973G>T (p.Arg1658Leu)
c.4970G>T (p.Arg1657Leu)
c.4892G>T (p.Arg1631Leu)
c.4889G>T (p.Arg1630Leu)
c.4847G>T (p.Arg1616Leu)
c.4844G>T (p.Arg1615Leu)
c.4760G>T (p.Arg1587Leu)
2g.229787602C>GCA350892834TRIP12c.4721G>C (p.Arg1574Pro)
c.4730G>C (p.Arg1577Pro)
c.4898G>C (p.Arg1633Pro)
c.4757G>C (p.Arg1586Pro)
c.*3062G>C (n.*3062G>C)
c.4772G>C (p.Arg1591Pro)
c.4886G>C (p.Arg1629Pro)
c.552G>C
c.*2382G>C (n.*2382G>C)
c.4621G>C
c.4676G>C (p.Arg1559Pro)
c.4901G>C (p.Arg1634Pro)
c.4673G>C (p.Arg1558Pro)
c.4817G>C (p.Arg1606Pro)
c.3863G>C (p.Arg1288Pro)
c.4820G>C (p.Arg1607Pro)
c.4814G>C (p.Arg1605Pro)
c.4775G>C (p.Arg1592Pro)
c.4691G>C (p.Arg1564Pro)
c.4883G>C (p.Arg1628Pro)
c.4796G>C (p.Arg1599Pro)
c.4802G>C (p.Arg1601Pro)
c.4733G>C (p.Arg1578Pro)
c.4973G>C (p.Arg1658Pro)
c.4970G>C (p.Arg1657Pro)
c.4892G>C (p.Arg1631Pro)
c.4889G>C (p.Arg1630Pro)
c.4847G>C (p.Arg1616Pro)
c.4844G>C (p.Arg1615Pro)
c.4760G>C (p.Arg1587Pro)
2g.229787602C>TCA350892832TRIP12c.4721G>A (p.Arg1574Gln)
c.4730G>A (p.Arg1577Gln)
c.4898G>A (p.Arg1633Gln)
c.4757G>A (p.Arg1586Gln)
c.*3062G>A (n.*3062G>A)
c.4772G>A (p.Arg1591Gln)
c.4886G>A (p.Arg1629Gln)
c.552G>A
c.*2382G>A (n.*2382G>A)
c.4621G>A
c.4676G>A (p.Arg1559Gln)
c.4901G>A (p.Arg1634Gln)
c.4673G>A (p.Arg1558Gln)
c.4817G>A (p.Arg1606Gln)
c.3863G>A (p.Arg1288Gln)
c.4820G>A (p.Arg1607Gln)
c.4814G>A (p.Arg1605Gln)
c.4775G>A (p.Arg1592Gln)
c.4691G>A (p.Arg1564Gln)
c.4883G>A (p.Arg1628Gln)
c.4796G>A (p.Arg1599Gln)
c.4802G>A (p.Arg1601Gln)
c.4733G>A (p.Arg1578Gln)
c.4973G>A (p.Arg1658Gln)
c.4970G>A (p.Arg1657Gln)
c.4892G>A (p.Arg1631Gln)
c.4889G>A (p.Arg1630Gln)
c.4847G>A (p.Arg1616Gln)
c.4844G>A (p.Arg1615Gln)
c.4760G>A (p.Arg1587Gln)
 gnomAD v4
2g.229787603G>ACA350892837TRIP12c.4720C>T (p.Arg1574Trp)
c.4729C>T (p.Arg1577Trp)
c.4897C>T (p.Arg1633Trp)
c.4756C>T (p.Arg1586Trp)
c.*3061C>T (n.*3061C>T)
c.4771C>T (p.Arg1591Trp)
c.4885C>T (p.Arg1629Trp)
c.551C>T
c.*2381C>T (n.*2381C>T)
c.4620C>T
c.4675C>T (p.Arg1559Trp)
c.4900C>T (p.Arg1634Trp)
c.4672C>T (p.Arg1558Trp)
c.4816C>T (p.Arg1606Trp)
c.3862C>T (p.Arg1288Trp)
c.4819C>T (p.Arg1607Trp)
c.4813C>T (p.Arg1605Trp)
c.4774C>T (p.Arg1592Trp)
c.4690C>T (p.Arg1564Trp)
c.4882C>T (p.Arg1628Trp)
c.4795C>T (p.Arg1599Trp)
c.4801C>T (p.Arg1601Trp)
c.4732C>T (p.Arg1578Trp)
c.4972C>T (p.Arg1658Trp)
c.4969C>T (p.Arg1657Trp)
c.4891C>T (p.Arg1631Trp)
c.4888C>T (p.Arg1630Trp)
c.4846C>T (p.Arg1616Trp)
c.4843C>T (p.Arg1615Trp)
c.4759C>T (p.Arg1587Trp)
2g.229787603G>CCA350892838TRIP12c.4720C>G (p.Arg1574Gly)
c.4729C>G (p.Arg1577Gly)
c.4897C>G (p.Arg1633Gly)
c.4756C>G (p.Arg1586Gly)
c.*3061C>G (n.*3061C>G)
c.4771C>G (p.Arg1591Gly)
c.4885C>G (p.Arg1629Gly)
c.551C>G
c.*2381C>G (n.*2381C>G)
c.4620C>G
c.4675C>G (p.Arg1559Gly)
c.4900C>G (p.Arg1634Gly)
c.4672C>G (p.Arg1558Gly)
c.4816C>G (p.Arg1606Gly)
c.3862C>G (p.Arg1288Gly)
c.4819C>G (p.Arg1607Gly)
c.4813C>G (p.Arg1605Gly)
c.4774C>G (p.Arg1592Gly)
c.4690C>G (p.Arg1564Gly)
c.4882C>G (p.Arg1628Gly)
c.4795C>G (p.Arg1599Gly)
c.4801C>G (p.Arg1601Gly)
c.4732C>G (p.Arg1578Gly)
c.4972C>G (p.Arg1658Gly)
c.4969C>G (p.Arg1657Gly)
c.4891C>G (p.Arg1631Gly)
c.4888C>G (p.Arg1630Gly)
c.4846C>G (p.Arg1616Gly)
c.4843C>G (p.Arg1615Gly)
c.4759C>G (p.Arg1587Gly)
2g.229787603G>TCA431535044TRIP12c.4720C>A (p.Arg1574=)
c.4729C>A (p.Arg1577=)
c.4897C>A (p.Arg1633=)
c.4756C>A (p.Arg1586=)
c.*3061C>A (n.*3061C>A)
c.4771C>A (p.Arg1591=)
c.4885C>A (p.Arg1629=)
c.551C>A
c.*2381C>A (n.*2381C>A)
c.4620C>A
c.4675C>A (p.Arg1559=)
c.4900C>A (p.Arg1634=)
c.4672C>A (p.Arg1558=)
c.4816C>A (p.Arg1606=)
c.3862C>A (p.Arg1288=)
c.4819C>A (p.Arg1607=)
c.4813C>A (p.Arg1605=)
c.4774C>A (p.Arg1592=)
c.4690C>A (p.Arg1564=)
c.4882C>A (p.Arg1628=)
c.4795C>A (p.Arg1599=)
c.4801C>A (p.Arg1601=)
c.4732C>A (p.Arg1578=)
c.4972C>A (p.Arg1658=)
c.4969C>A (p.Arg1657=)
c.4891C>A (p.Arg1631=)
c.4888C>A (p.Arg1630=)
c.4846C>A (p.Arg1616=)
c.4843C>A (p.Arg1615=)
c.4759C>A (p.Arg1587=)
2g.229787604A>CCA350892839TRIP12c.4719T>G (p.Asp1573Glu)
c.4728T>G (p.Asp1576Glu)
c.4896T>G (p.Asp1632Glu)
c.4755T>G (p.Asp1585Glu)
c.*3060T>G (n.*3060T>G)
c.4770T>G (p.Asp1590Glu)
c.4884T>G (p.Asp1628Glu)
c.550T>G
c.*2380T>G (n.*2380T>G)
c.4619T>G
c.4674T>G (p.Asp1558Glu)
c.4899T>G (p.Asp1633Glu)
c.4671T>G (p.Asp1557Glu)
c.4815T>G (p.Asp1605Glu)
c.3861T>G (p.Asp1287Glu)
c.4818T>G (p.Asp1606Glu)
c.4812T>G (p.Asp1604Glu)
c.4773T>G (p.Asp1591Glu)
c.4689T>G (p.Asp1563Glu)
c.4881T>G (p.Asp1627Glu)
c.4794T>G (p.Asp1598Glu)
c.4800T>G (p.Asp1600Glu)
c.4731T>G (p.Asp1577Glu)
c.4971T>G (p.Asp1657Glu)
c.4968T>G (p.Asp1656Glu)
c.4890T>G (p.Asp1630Glu)
c.4887T>G (p.Asp1629Glu)
c.4845T>G (p.Asp1615Glu)
c.4842T>G (p.Asp1614Glu)
c.4758T>G (p.Asp1586Glu)
2g.229787604A>GCA431535045TRIP12c.4719T>C (p.Asp1573=)
c.4728T>C (p.Asp1576=)
c.4896T>C (p.Asp1632=)
c.4755T>C (p.Asp1585=)
c.*3060T>C (n.*3060T>C)
c.4770T>C (p.Asp1590=)
c.4884T>C (p.Asp1628=)
c.550T>C
c.*2380T>C (n.*2380T>C)
c.4619T>C
c.4674T>C (p.Asp1558=)
c.4899T>C (p.Asp1633=)
c.4671T>C (p.Asp1557=)
c.4815T>C (p.Asp1605=)
c.3861T>C (p.Asp1287=)
c.4818T>C (p.Asp1606=)
c.4812T>C (p.Asp1604=)
c.4773T>C (p.Asp1591=)
c.4689T>C (p.Asp1563=)
c.4881T>C (p.Asp1627=)
c.4794T>C (p.Asp1598=)
c.4800T>C (p.Asp1600=)
c.4731T>C (p.Asp1577=)
c.4971T>C (p.Asp1657=)
c.4968T>C (p.Asp1656=)
c.4890T>C (p.Asp1630=)
c.4887T>C (p.Asp1629=)
c.4845T>C (p.Asp1615=)
c.4842T>C (p.Asp1614=)
c.4758T>C (p.Asp1586=)
2g.229787604A>TCA350892840TRIP12c.4719T>A (p.Asp1573Glu)
c.4728T>A (p.Asp1576Glu)
c.4896T>A (p.Asp1632Glu)
c.4755T>A (p.Asp1585Glu)
c.*3060T>A (n.*3060T>A)
c.4770T>A (p.Asp1590Glu)
c.4884T>A (p.Asp1628Glu)
c.550T>A
c.*2380T>A (n.*2380T>A)
c.4619T>A
c.4674T>A (p.Asp1558Glu)
c.4899T>A (p.Asp1633Glu)
c.4671T>A (p.Asp1557Glu)
c.4815T>A (p.Asp1605Glu)
c.3861T>A (p.Asp1287Glu)
c.4818T>A (p.Asp1606Glu)
c.4812T>A (p.Asp1604Glu)
c.4773T>A (p.Asp1591Glu)
c.4689T>A (p.Asp1563Glu)
c.4881T>A (p.Asp1627Glu)
c.4794T>A (p.Asp1598Glu)
c.4800T>A (p.Asp1600Glu)
c.4731T>A (p.Asp1577Glu)
c.4971T>A (p.Asp1657Glu)
c.4968T>A (p.Asp1656Glu)
c.4890T>A (p.Asp1630Glu)
c.4887T>A (p.Asp1629Glu)
c.4845T>A (p.Asp1615Glu)
c.4842T>A (p.Asp1614Glu)
c.4758T>A (p.Asp1586Glu)
2g.229787605T>ACA350892841TRIP12c.4718A>T (p.Asp1573Val)
c.4727A>T (p.Asp1576Val)
c.4895A>T (p.Asp1632Val)
c.4754A>T (p.Asp1585Val)
c.*3059A>T (n.*3059A>T)
c.4769A>T (p.Asp1590Val)
c.4883A>T (p.Asp1628Val)
c.549A>T
c.*2379A>T (n.*2379A>T)
c.4618A>T
c.4673A>T (p.Asp1558Val)
c.4898A>T (p.Asp1633Val)
c.4670A>T (p.Asp1557Val)
c.4814A>T (p.Asp1605Val)
c.3860A>T (p.Asp1287Val)
c.4817A>T (p.Asp1606Val)
c.4811A>T (p.Asp1604Val)
c.4772A>T (p.Asp1591Val)
c.4688A>T (p.Asp1563Val)
c.4880A>T (p.Asp1627Val)
c.4793A>T (p.Asp1598Val)
c.4799A>T (p.Asp1600Val)
c.4730A>T (p.Asp1577Val)
c.4970A>T (p.Asp1657Val)
c.4967A>T (p.Asp1656Val)
c.4889A>T (p.Asp1630Val)
c.4886A>T (p.Asp1629Val)
c.4844A>T (p.Asp1615Val)
c.4841A>T (p.Asp1614Val)
c.4757A>T (p.Asp1586Val)
2g.229787605T>CCA350892843TRIP12c.4718A>G (p.Asp1573Gly)
c.4727A>G (p.Asp1576Gly)
c.4895A>G (p.Asp1632Gly)
c.4754A>G (p.Asp1585Gly)
c.*3059A>G (n.*3059A>G)
c.4769A>G (p.Asp1590Gly)
c.4883A>G (p.Asp1628Gly)
c.549A>G
c.*2379A>G (n.*2379A>G)
c.4618A>G
c.4673A>G (p.Asp1558Gly)
c.4898A>G (p.Asp1633Gly)
c.4670A>G (p.Asp1557Gly)
c.4814A>G (p.Asp1605Gly)
c.3860A>G (p.Asp1287Gly)
c.4817A>G (p.Asp1606Gly)
c.4811A>G (p.Asp1604Gly)
c.4772A>G (p.Asp1591Gly)
c.4688A>G (p.Asp1563Gly)
c.4880A>G (p.Asp1627Gly)
c.4793A>G (p.Asp1598Gly)
c.4799A>G (p.Asp1600Gly)
c.4730A>G (p.Asp1577Gly)
c.4970A>G (p.Asp1657Gly)
c.4967A>G (p.Asp1656Gly)
c.4889A>G (p.Asp1630Gly)
c.4886A>G (p.Asp1629Gly)
c.4844A>G (p.Asp1615Gly)
c.4841A>G (p.Asp1614Gly)
c.4757A>G (p.Asp1586Gly)
2g.229787605T>GCA350892845TRIP12c.4718A>C (p.Asp1573Ala)
c.4727A>C (p.Asp1576Ala)
c.4895A>C (p.Asp1632Ala)
c.4754A>C (p.Asp1585Ala)
c.*3059A>C (n.*3059A>C)
c.4769A>C (p.Asp1590Ala)
c.4883A>C (p.Asp1628Ala)
c.549A>C
c.*2379A>C (n.*2379A>C)
c.4618A>C
c.4673A>C (p.Asp1558Ala)
c.4898A>C (p.Asp1633Ala)
c.4670A>C (p.Asp1557Ala)
c.4814A>C (p.Asp1605Ala)
c.3860A>C (p.Asp1287Ala)
c.4817A>C (p.Asp1606Ala)
c.4811A>C (p.Asp1604Ala)
c.4772A>C (p.Asp1591Ala)
c.4688A>C (p.Asp1563Ala)
c.4880A>C (p.Asp1627Ala)
c.4793A>C (p.Asp1598Ala)
c.4799A>C (p.Asp1600Ala)
c.4730A>C (p.Asp1577Ala)
c.4970A>C (p.Asp1657Ala)
c.4967A>C (p.Asp1656Ala)
c.4889A>C (p.Asp1630Ala)
c.4886A>C (p.Asp1629Ala)
c.4844A>C (p.Asp1615Ala)
c.4841A>C (p.Asp1614Ala)
c.4757A>C (p.Asp1586Ala)
2g.229787606C>ACA350892848TRIP12c.4717G>T (p.Asp1573Tyr)
c.4726G>T (p.Asp1576Tyr)
c.4894G>T (p.Asp1632Tyr)
c.4753G>T (p.Asp1585Tyr)
c.*3058G>T (n.*3058G>T)
c.4768G>T (p.Asp1590Tyr)
c.4882G>T (p.Asp1628Tyr)
c.548G>T
c.*2378G>T (n.*2378G>T)
c.4617G>T
c.4672G>T (p.Asp1558Tyr)
c.4897G>T (p.Asp1633Tyr)
c.4669G>T (p.Asp1557Tyr)
c.4813G>T (p.Asp1605Tyr)
c.3859G>T (p.Asp1287Tyr)
c.4816G>T (p.Asp1606Tyr)
c.4810G>T (p.Asp1604Tyr)
c.4771G>T (p.Asp1591Tyr)
c.4687G>T (p.Asp1563Tyr)
c.4879G>T (p.Asp1627Tyr)
c.4792G>T (p.Asp1598Tyr)
c.4798G>T (p.Asp1600Tyr)
c.4729G>T (p.Asp1577Tyr)
c.4969G>T (p.Asp1657Tyr)
c.4966G>T (p.Asp1656Tyr)
c.4888G>T (p.Asp1630Tyr)
c.4885G>T (p.Asp1629Tyr)
c.4843G>T (p.Asp1615Tyr)
c.4840G>T (p.Asp1614Tyr)
c.4756G>T (p.Asp1586Tyr)
2g.229787606C>GCA350892857TRIP12c.4717G>C (p.Asp1573His)
c.4726G>C (p.Asp1576His)
c.4894G>C (p.Asp1632His)
c.4753G>C (p.Asp1585His)
c.*3058G>C (n.*3058G>C)
c.4768G>C (p.Asp1590His)
c.4882G>C (p.Asp1628His)
c.548G>C
c.*2378G>C (n.*2378G>C)
c.4617G>C
c.4672G>C (p.Asp1558His)
c.4897G>C (p.Asp1633His)
c.4669G>C (p.Asp1557His)
c.4813G>C (p.Asp1605His)
c.3859G>C (p.Asp1287His)
c.4816G>C (p.Asp1606His)
c.4810G>C (p.Asp1604His)
c.4771G>C (p.Asp1591His)
c.4687G>C (p.Asp1563His)
c.4879G>C (p.Asp1627His)
c.4792G>C (p.Asp1598His)
c.4798G>C (p.Asp1600His)
c.4729G>C (p.Asp1577His)
c.4969G>C (p.Asp1657His)
c.4966G>C (p.Asp1656His)
c.4888G>C (p.Asp1630His)
c.4885G>C (p.Asp1629His)
c.4843G>C (p.Asp1615His)
c.4840G>C (p.Asp1614His)
c.4756G>C (p.Asp1586His)
2g.229787606C>TCA350892864TRIP12c.4717G>A (p.Asp1573Asn)
c.4726G>A (p.Asp1576Asn)
c.4894G>A (p.Asp1632Asn)
c.4753G>A (p.Asp1585Asn)
c.*3058G>A (n.*3058G>A)
c.4768G>A (p.Asp1590Asn)
c.4882G>A (p.Asp1628Asn)
c.548G>A
c.*2378G>A (n.*2378G>A)
c.4617G>A
c.4672G>A (p.Asp1558Asn)
c.4897G>A (p.Asp1633Asn)
c.4669G>A (p.Asp1557Asn)
c.4813G>A (p.Asp1605Asn)
c.3859G>A (p.Asp1287Asn)
c.4816G>A (p.Asp1606Asn)
c.4810G>A (p.Asp1604Asn)
c.4771G>A (p.Asp1591Asn)
c.4687G>A (p.Asp1563Asn)
c.4879G>A (p.Asp1627Asn)
c.4792G>A (p.Asp1598Asn)
c.4798G>A (p.Asp1600Asn)
c.4729G>A (p.Asp1577Asn)
c.4969G>A (p.Asp1657Asn)
c.4966G>A (p.Asp1656Asn)
c.4888G>A (p.Asp1630Asn)
c.4885G>A (p.Asp1629Asn)
c.4843G>A (p.Asp1615Asn)
c.4840G>A (p.Asp1614Asn)
c.4756G>A (p.Asp1586Asn)

Number of alleles fetched