Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.229787503A=CA1334026957TRIP12c.4818+2T= (n.4818+2T=)
c.4827+2T= (n.4827+2T=)
c.4995+2T= (n.4995+2T=)
c.4854+2T= (n.4854+2T=)
c.*3159+2T= (n.*3159+2T=)
c.4869+2T= (n.4869+2T=)
c.4983+2T= (n.4983+2T=)
c.649+2T=
c.*2479+2T= (n.*2479+2T=)
c.4718+2T=
c.4773+2T= (n.4773+2T=)
c.4998+2T= (n.4998+2T=)
c.4770+2T= (n.4770+2T=)
c.4914+2T= (n.4914+2T=)
c.3960+2T= (n.3960+2T=)
c.4917+2T= (n.4917+2T=)
c.4911+2T= (n.4911+2T=)
c.4872+2T= (n.4872+2T=)
c.4788+2T= (n.4788+2T=)
c.4980+2T= (n.4980+2T=)
c.4893+2T= (n.4893+2T=)
c.4899+2T= (n.4899+2T=)
c.4830+2T= (n.4830+2T=)
c.5070+2T= (n.5070+2T=)
c.5067+2T= (n.5067+2T=)
c.4989+2T= (n.4989+2T=)
c.4986+2T= (n.4986+2T=)
c.4944+2T= (n.4944+2T=)
c.4941+2T= (n.4941+2T=)
c.4857+2T= (n.4857+2T=)
2g.229787503A>CCA350892014TRIP12c.4818+2T>G (n.4818+2T>G)
c.4827+2T>G (n.4827+2T>G)
c.4995+2T>G (n.4995+2T>G)
c.4854+2T>G (n.4854+2T>G)
c.*3159+2T>G (n.*3159+2T>G)
c.4869+2T>G (n.4869+2T>G)
c.4983+2T>G (n.4983+2T>G)
c.649+2T>G
c.*2479+2T>G (n.*2479+2T>G)
c.4718+2T>G
c.4773+2T>G (n.4773+2T>G)
c.4998+2T>G (n.4998+2T>G)
c.4770+2T>G (n.4770+2T>G)
c.4914+2T>G (n.4914+2T>G)
c.3960+2T>G (n.3960+2T>G)
c.4917+2T>G (n.4917+2T>G)
c.4911+2T>G (n.4911+2T>G)
c.4872+2T>G (n.4872+2T>G)
c.4788+2T>G (n.4788+2T>G)
c.4980+2T>G (n.4980+2T>G)
c.4893+2T>G (n.4893+2T>G)
c.4899+2T>G (n.4899+2T>G)
c.4830+2T>G (n.4830+2T>G)
c.5070+2T>G (n.5070+2T>G)
c.5067+2T>G (n.5067+2T>G)
c.4989+2T>G (n.4989+2T>G)
c.4986+2T>G (n.4986+2T>G)
c.4944+2T>G (n.4944+2T>G)
c.4941+2T>G (n.4941+2T>G)
c.4857+2T>G (n.4857+2T>G)
2g.229787503A>GCA16617492TRIP12c.4818+2T>C (n.4818+2T>C)
c.4827+2T>C (n.4827+2T>C)
c.4995+2T>C (n.4995+2T>C)
c.4854+2T>C (n.4854+2T>C)
c.*3159+2T>C (n.*3159+2T>C)
c.4869+2T>C (n.4869+2T>C)
c.4983+2T>C (n.4983+2T>C)
c.649+2T>C
c.*2479+2T>C (n.*2479+2T>C)
c.4718+2T>C
c.4773+2T>C (n.4773+2T>C)
c.4998+2T>C (n.4998+2T>C)
c.4770+2T>C (n.4770+2T>C)
c.4914+2T>C (n.4914+2T>C)
c.3960+2T>C (n.3960+2T>C)
c.4917+2T>C (n.4917+2T>C)
c.4911+2T>C (n.4911+2T>C)
c.4872+2T>C (n.4872+2T>C)
c.4788+2T>C (n.4788+2T>C)
c.4980+2T>C (n.4980+2T>C)
c.4893+2T>C (n.4893+2T>C)
c.4899+2T>C (n.4899+2T>C)
c.4830+2T>C (n.4830+2T>C)
c.5070+2T>C (n.5070+2T>C)
c.5067+2T>C (n.5067+2T>C)
c.4989+2T>C (n.4989+2T>C)
c.4986+2T>C (n.4986+2T>C)
c.4944+2T>C (n.4944+2T>C)
c.4941+2T>C (n.4941+2T>C)
c.4857+2T>C (n.4857+2T>C)
 ClinVar dbSNP
2g.229787503A>TCA350892011TRIP12c.4818+2T>A (n.4818+2T>A)
c.4827+2T>A (n.4827+2T>A)
c.4995+2T>A (n.4995+2T>A)
c.4854+2T>A (n.4854+2T>A)
c.*3159+2T>A (n.*3159+2T>A)
c.4869+2T>A (n.4869+2T>A)
c.4983+2T>A (n.4983+2T>A)
c.649+2T>A
c.*2479+2T>A (n.*2479+2T>A)
c.4718+2T>A
c.4773+2T>A (n.4773+2T>A)
c.4998+2T>A (n.4998+2T>A)
c.4770+2T>A (n.4770+2T>A)
c.4914+2T>A (n.4914+2T>A)
c.3960+2T>A (n.3960+2T>A)
c.4917+2T>A (n.4917+2T>A)
c.4911+2T>A (n.4911+2T>A)
c.4872+2T>A (n.4872+2T>A)
c.4788+2T>A (n.4788+2T>A)
c.4980+2T>A (n.4980+2T>A)
c.4893+2T>A (n.4893+2T>A)
c.4899+2T>A (n.4899+2T>A)
c.4830+2T>A (n.4830+2T>A)
c.5070+2T>A (n.5070+2T>A)
c.5067+2T>A (n.5067+2T>A)
c.4989+2T>A (n.4989+2T>A)
c.4986+2T>A (n.4986+2T>A)
c.4944+2T>A (n.4944+2T>A)
c.4941+2T>A (n.4941+2T>A)
c.4857+2T>A (n.4857+2T>A)
2g.229787504C>ACA350892016TRIP12c.4818+1G>T (n.4818+1G>T)
c.4827+1G>T (n.4827+1G>T)
c.4995+1G>T (n.4995+1G>T)
c.4854+1G>T (n.4854+1G>T)
c.*3159+1G>T (n.*3159+1G>T)
c.4869+1G>T (n.4869+1G>T)
c.4983+1G>T (n.4983+1G>T)
c.649+1G>T
c.*2479+1G>T (n.*2479+1G>T)
c.4718+1G>T
c.4773+1G>T (n.4773+1G>T)
c.4998+1G>T (n.4998+1G>T)
c.4770+1G>T (n.4770+1G>T)
c.4914+1G>T (n.4914+1G>T)
c.3960+1G>T (n.3960+1G>T)
c.4917+1G>T (n.4917+1G>T)
c.4911+1G>T (n.4911+1G>T)
c.4872+1G>T (n.4872+1G>T)
c.4788+1G>T (n.4788+1G>T)
c.4980+1G>T (n.4980+1G>T)
c.4893+1G>T (n.4893+1G>T)
c.4899+1G>T (n.4899+1G>T)
c.4830+1G>T (n.4830+1G>T)
c.5070+1G>T (n.5070+1G>T)
c.5067+1G>T (n.5067+1G>T)
c.4989+1G>T (n.4989+1G>T)
c.4986+1G>T (n.4986+1G>T)
c.4944+1G>T (n.4944+1G>T)
c.4941+1G>T (n.4941+1G>T)
c.4857+1G>T (n.4857+1G>T)
2g.229787504C>GCA350892024TRIP12c.4818+1G>C (n.4818+1G>C)
c.4827+1G>C (n.4827+1G>C)
c.4995+1G>C (n.4995+1G>C)
c.4854+1G>C (n.4854+1G>C)
c.*3159+1G>C (n.*3159+1G>C)
c.4869+1G>C (n.4869+1G>C)
c.4983+1G>C (n.4983+1G>C)
c.649+1G>C
c.*2479+1G>C (n.*2479+1G>C)
c.4718+1G>C
c.4773+1G>C (n.4773+1G>C)
c.4998+1G>C (n.4998+1G>C)
c.4770+1G>C (n.4770+1G>C)
c.4914+1G>C (n.4914+1G>C)
c.3960+1G>C (n.3960+1G>C)
c.4917+1G>C (n.4917+1G>C)
c.4911+1G>C (n.4911+1G>C)
c.4872+1G>C (n.4872+1G>C)
c.4788+1G>C (n.4788+1G>C)
c.4980+1G>C (n.4980+1G>C)
c.4893+1G>C (n.4893+1G>C)
c.4899+1G>C (n.4899+1G>C)
c.4830+1G>C (n.4830+1G>C)
c.5070+1G>C (n.5070+1G>C)
c.5067+1G>C (n.5067+1G>C)
c.4989+1G>C (n.4989+1G>C)
c.4986+1G>C (n.4986+1G>C)
c.4944+1G>C (n.4944+1G>C)
c.4941+1G>C (n.4941+1G>C)
c.4857+1G>C (n.4857+1G>C)
2g.229787504C>TCA350892026TRIP12c.4818+1G>A (n.4818+1G>A)
c.4827+1G>A (n.4827+1G>A)
c.4995+1G>A (n.4995+1G>A)
c.4854+1G>A (n.4854+1G>A)
c.*3159+1G>A (n.*3159+1G>A)
c.4869+1G>A (n.4869+1G>A)
c.4983+1G>A (n.4983+1G>A)
c.649+1G>A
c.*2479+1G>A (n.*2479+1G>A)
c.4718+1G>A
c.4773+1G>A (n.4773+1G>A)
c.4998+1G>A (n.4998+1G>A)
c.4770+1G>A (n.4770+1G>A)
c.4914+1G>A (n.4914+1G>A)
c.3960+1G>A (n.3960+1G>A)
c.4917+1G>A (n.4917+1G>A)
c.4911+1G>A (n.4911+1G>A)
c.4872+1G>A (n.4872+1G>A)
c.4788+1G>A (n.4788+1G>A)
c.4980+1G>A (n.4980+1G>A)
c.4893+1G>A (n.4893+1G>A)
c.4899+1G>A (n.4899+1G>A)
c.4830+1G>A (n.4830+1G>A)
c.5070+1G>A (n.5070+1G>A)
c.5067+1G>A (n.5067+1G>A)
c.4989+1G>A (n.4989+1G>A)
c.4986+1G>A (n.4986+1G>A)
c.4944+1G>A (n.4944+1G>A)
c.4941+1G>A (n.4941+1G>A)
c.4857+1G>A (n.4857+1G>A)
2g.229787505T>ACA350892034TRIP12c.4818A>T (p.Lys1606Asn)
c.4827A>T (p.Lys1609Asn)
c.4995A>T (p.Lys1665Asn)
c.4854A>T (p.Lys1618Asn)
c.*3159A>T (n.*3159A>T)
c.4869A>T (p.Lys1623Asn)
c.4983A>T (p.Lys1661Asn)
c.649A>T
c.*2479A>T (n.*2479A>T)
c.4718A>T
c.4773A>T (p.Lys1591Asn)
c.4998A>T (p.Lys1666Asn)
c.4770A>T (p.Lys1590Asn)
c.4914A>T (p.Lys1638Asn)
c.3960A>T (p.Lys1320Asn)
c.4917A>T (p.Lys1639Asn)
c.4911A>T (p.Lys1637Asn)
c.4872A>T (p.Lys1624Asn)
c.4788A>T (p.Lys1596Asn)
c.4980A>T (p.Lys1660Asn)
c.4893A>T (p.Lys1631Asn)
c.4899A>T (p.Lys1633Asn)
c.4830A>T (p.Lys1610Asn)
c.5070A>T (p.Lys1690Asn)
c.5067A>T (p.Lys1689Asn)
c.4989A>T (p.Lys1663Asn)
c.4986A>T (p.Lys1662Asn)
c.4944A>T (p.Lys1648Asn)
c.4941A>T (p.Lys1647Asn)
c.4857A>T (p.Lys1619Asn)
2g.229787505T>CCA431534982TRIP12c.4818A>G (p.Lys1606=)
c.4827A>G (p.Lys1609=)
c.4995A>G (p.Lys1665=)
c.4854A>G (p.Lys1618=)
c.*3159A>G (n.*3159A>G)
c.4869A>G (p.Lys1623=)
c.4983A>G (p.Lys1661=)
c.649A>G
c.*2479A>G (n.*2479A>G)
c.4718A>G
c.4773A>G (p.Lys1591=)
c.4998A>G (p.Lys1666=)
c.4770A>G (p.Lys1590=)
c.4914A>G (p.Lys1638=)
c.3960A>G (p.Lys1320=)
c.4917A>G (p.Lys1639=)
c.4911A>G (p.Lys1637=)
c.4872A>G (p.Lys1624=)
c.4788A>G (p.Lys1596=)
c.4980A>G (p.Lys1660=)
c.4893A>G (p.Lys1631=)
c.4899A>G (p.Lys1633=)
c.4830A>G (p.Lys1610=)
c.5070A>G (p.Lys1690=)
c.5067A>G (p.Lys1689=)
c.4989A>G (p.Lys1663=)
c.4986A>G (p.Lys1662=)
c.4944A>G (p.Lys1648=)
c.4941A>G (p.Lys1647=)
c.4857A>G (p.Lys1619=)
 gnomAD v4
2g.229787505T>GCA350892038TRIP12c.4818A>C (p.Lys1606Asn)
c.4827A>C (p.Lys1609Asn)
c.4995A>C (p.Lys1665Asn)
c.4854A>C (p.Lys1618Asn)
c.*3159A>C (n.*3159A>C)
c.4869A>C (p.Lys1623Asn)
c.4983A>C (p.Lys1661Asn)
c.649A>C
c.*2479A>C (n.*2479A>C)
c.4718A>C
c.4773A>C (p.Lys1591Asn)
c.4998A>C (p.Lys1666Asn)
c.4770A>C (p.Lys1590Asn)
c.4914A>C (p.Lys1638Asn)
c.3960A>C (p.Lys1320Asn)
c.4917A>C (p.Lys1639Asn)
c.4911A>C (p.Lys1637Asn)
c.4872A>C (p.Lys1624Asn)
c.4788A>C (p.Lys1596Asn)
c.4980A>C (p.Lys1660Asn)
c.4893A>C (p.Lys1631Asn)
c.4899A>C (p.Lys1633Asn)
c.4830A>C (p.Lys1610Asn)
c.5070A>C (p.Lys1690Asn)
c.5067A>C (p.Lys1689Asn)
c.4989A>C (p.Lys1663Asn)
c.4986A>C (p.Lys1662Asn)
c.4944A>C (p.Lys1648Asn)
c.4941A>C (p.Lys1647Asn)
c.4857A>C (p.Lys1619Asn)
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)

Number of alleles fetched