Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.32625674A=CA2026243833FGD4c.1656A= (p.Arg552=)
c.1911A= (p.Arg637=)
c.1377A= (p.Arg459=)
c.468A= (p.Arg156=)
n.1163A=
n.454A=
c.2067A= (p.Arg689=)
c.*1048A= (n.*1048A=)
c.*1067A= (n.*1067A=)
c.1338A=
c.1992A= (p.Arg664=)
c.*1025A= (n.*1025A=)
c.912A= (p.Arg304=)
c.624A= (p.Arg208=)
c.2148A= (p.Arg716=)
c.1950A= (p.Arg650=)
c.1104A= (p.Arg368=)
c.1059A= (p.Arg353=)
c.891A= (p.Arg297=)
c.765A= (p.Arg255=)
12g.32625674A>CCA384367283FGD4c.1656A>C (p.Arg552Ser)
c.1911A>C (p.Arg637Ser)
c.1377A>C (p.Arg459Ser)
c.468A>C (p.Arg156Ser)
n.1163A>C
n.454A>C
c.2067A>C (p.Arg689Ser)
c.*1048A>C (n.*1048A>C)
c.*1067A>C (n.*1067A>C)
c.1338A>C
c.1992A>C (p.Arg664Ser)
c.*1025A>C (n.*1025A>C)
c.912A>C (p.Arg304Ser)
c.624A>C (p.Arg208Ser)
c.2148A>C (p.Arg716Ser)
c.1950A>C (p.Arg650Ser)
c.1104A>C (p.Arg368Ser)
c.1059A>C (p.Arg353Ser)
c.891A>C (p.Arg297Ser)
c.765A>C (p.Arg255Ser)
12g.32625674A>GCA479169231FGD4c.1656A>G (p.Arg552=)
c.1911A>G (p.Arg637=)
c.1377A>G (p.Arg459=)
c.468A>G (p.Arg156=)
n.1163A>G
n.454A>G
c.2067A>G (p.Arg689=)
c.*1048A>G (n.*1048A>G)
c.*1067A>G (n.*1067A>G)
c.1338A>G
c.1992A>G (p.Arg664=)
c.*1025A>G (n.*1025A>G)
c.912A>G (p.Arg304=)
c.624A>G (p.Arg208=)
c.2148A>G (p.Arg716=)
c.1950A>G (p.Arg650=)
c.1104A>G (p.Arg368=)
c.1059A>G (p.Arg353=)
c.891A>G (p.Arg297=)
c.765A>G (p.Arg255=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.32625674A>TCA384367284FGD4c.1656A>T (p.Arg552Ser)
c.1911A>T (p.Arg637Ser)
c.1377A>T (p.Arg459Ser)
c.468A>T (p.Arg156Ser)
n.1163A>T
n.454A>T
c.2067A>T (p.Arg689Ser)
c.*1048A>T (n.*1048A>T)
c.*1067A>T (n.*1067A>T)
c.1338A>T
c.1992A>T (p.Arg664Ser)
c.*1025A>T (n.*1025A>T)
c.912A>T (p.Arg304Ser)
c.624A>T (p.Arg208Ser)
c.2148A>T (p.Arg716Ser)
c.1950A>T (p.Arg650Ser)
c.1104A>T (p.Arg368Ser)
c.1059A>T (p.Arg353Ser)
c.891A>T (p.Arg297Ser)
c.765A>T (p.Arg255Ser)
12g.32625675G>ACA384367292FGD4c.1657G>A (p.Ala553Thr)
c.1912G>A (p.Ala638Thr)
c.1378G>A (p.Ala460Thr)
c.469G>A (p.Ala157Thr)
n.1164G>A
n.455G>A
c.2068G>A (p.Ala690Thr)
c.*1049G>A (n.*1049G>A)
c.*1068G>A (n.*1068G>A)
c.1339G>A
c.1993G>A (p.Ala665Thr)
c.*1026G>A (n.*1026G>A)
c.913G>A (p.Ala305Thr)
c.625G>A (p.Ala209Thr)
c.2149G>A (p.Ala717Thr)
c.1951G>A (p.Ala651Thr)
c.1105G>A (p.Ala369Thr)
c.1060G>A (p.Ala354Thr)
c.892G>A (p.Ala298Thr)
c.766G>A (p.Ala256Thr)
 gnomAD v4
12g.32625675G>CCA384367289FGD4c.1657G>C (p.Ala553Pro)
c.1912G>C (p.Ala638Pro)
c.1378G>C (p.Ala460Pro)
c.469G>C (p.Ala157Pro)
n.1164G>C
n.455G>C
c.2068G>C (p.Ala690Pro)
c.*1049G>C (n.*1049G>C)
c.*1068G>C (n.*1068G>C)
c.1339G>C
c.1993G>C (p.Ala665Pro)
c.*1026G>C (n.*1026G>C)
c.913G>C (p.Ala305Pro)
c.625G>C (p.Ala209Pro)
c.2149G>C (p.Ala717Pro)
c.1951G>C (p.Ala651Pro)
c.1105G>C (p.Ala369Pro)
c.1060G>C (p.Ala354Pro)
c.892G>C (p.Ala298Pro)
c.766G>C (p.Ala256Pro)
12g.32625675G>TCA384367287FGD4c.1657G>T (p.Ala553Ser)
c.1912G>T (p.Ala638Ser)
c.1378G>T (p.Ala460Ser)
c.469G>T (p.Ala157Ser)
n.1164G>T
n.455G>T
c.2068G>T (p.Ala690Ser)
c.*1049G>T (n.*1049G>T)
c.*1068G>T (n.*1068G>T)
c.1339G>T
c.1993G>T (p.Ala665Ser)
c.*1026G>T (n.*1026G>T)
c.913G>T (p.Ala305Ser)
c.625G>T (p.Ala209Ser)
c.2149G>T (p.Ala717Ser)
c.1951G>T (p.Ala651Ser)
c.1105G>T (p.Ala369Ser)
c.1060G>T (p.Ala354Ser)
c.892G>T (p.Ala298Ser)
c.766G>T (p.Ala256Ser)
12g.32625676C>ACA384367298FGD4c.1658C>A (p.Ala553Asp)
c.1913C>A (p.Ala638Asp)
c.1379C>A (p.Ala460Asp)
c.470C>A (p.Ala157Asp)
n.1165C>A
n.456C>A
c.2069C>A (p.Ala690Asp)
c.*1050C>A (n.*1050C>A)
c.*1069C>A (n.*1069C>A)
c.1340C>A
c.1994C>A (p.Ala665Asp)
c.*1027C>A (n.*1027C>A)
c.914C>A (p.Ala305Asp)
c.626C>A (p.Ala209Asp)
c.2150C>A (p.Ala717Asp)
c.1952C>A (p.Ala651Asp)
c.1106C>A (p.Ala369Asp)
c.1061C>A (p.Ala354Asp)
c.893C>A (p.Ala298Asp)
c.767C>A (p.Ala256Asp)
12g.32625676C=CA2026243836FGD4c.1658C= (p.Ala553=)
c.1913C= (p.Ala638=)
c.1379C= (p.Ala460=)
c.470C= (p.Ala157=)
n.1165C=
n.456C=
c.2069C= (p.Ala690=)
c.*1050C= (n.*1050C=)
c.*1069C= (n.*1069C=)
c.1340C=
c.1994C= (p.Ala665=)
c.*1027C= (n.*1027C=)
c.914C= (p.Ala305=)
c.626C= (p.Ala209=)
c.2150C= (p.Ala717=)
c.1952C= (p.Ala651=)
c.1106C= (p.Ala369=)
c.1061C= (p.Ala354=)
c.893C= (p.Ala298=)
c.767C= (p.Ala256=)
12g.32625676C>GCA235236160FGD4c.1658C>G (p.Ala553Gly)
c.1913C>G (p.Ala638Gly)
c.1379C>G (p.Ala460Gly)
c.470C>G (p.Ala157Gly)
n.1165C>G
n.456C>G
c.2069C>G (p.Ala690Gly)
c.*1050C>G (n.*1050C>G)
c.*1069C>G (n.*1069C>G)
c.1340C>G
c.1994C>G (p.Ala665Gly)
c.*1027C>G (n.*1027C>G)
c.914C>G (p.Ala305Gly)
c.626C>G (p.Ala209Gly)
c.2150C>G (p.Ala717Gly)
c.1952C>G (p.Ala651Gly)
c.1106C>G (p.Ala369Gly)
c.1061C>G (p.Ala354Gly)
c.893C>G (p.Ala298Gly)
c.767C>G (p.Ala256Gly)
 dbSNP
12g.32625676C>TCA384367317FGD4c.1658C>T (p.Ala553Val)
c.1913C>T (p.Ala638Val)
c.1379C>T (p.Ala460Val)
c.470C>T (p.Ala157Val)
n.1165C>T
n.456C>T
c.2069C>T (p.Ala690Val)
c.*1050C>T (n.*1050C>T)
c.*1069C>T (n.*1069C>T)
c.1340C>T
c.1994C>T (p.Ala665Val)
c.*1027C>T (n.*1027C>T)
c.914C>T (p.Ala305Val)
c.626C>T (p.Ala209Val)
c.2150C>T (p.Ala717Val)
c.1952C>T (p.Ala651Val)
c.1106C>T (p.Ala369Val)
c.1061C>T (p.Ala354Val)
c.893C>T (p.Ala298Val)
c.767C>T (p.Ala256Val)
 dbSNP
12g.32625677C>ACA6506984FGD4c.1659C>A (p.Ala553=)
c.1914C>A (p.Ala638=)
c.1380C>A (p.Ala460=)
c.471C>A (p.Ala157=)
n.1166C>A
n.457C>A
c.2070C>A (p.Ala690=)
c.*1051C>A (n.*1051C>A)
c.*1070C>A (n.*1070C>A)
c.1341C>A
c.1995C>A (p.Ala665=)
c.*1028C>A (n.*1028C>A)
c.915C>A (p.Ala305=)
c.627C>A (p.Ala209=)
c.2151C>A (p.Ala717=)
c.1953C>A (p.Ala651=)
c.1107C>A (p.Ala369=)
c.1062C>A (p.Ala354=)
c.894C>A (p.Ala298=)
c.768C>A (p.Ala256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625677C=CA2026243842FGD4c.1659C= (p.Ala553=)
c.1914C= (p.Ala638=)
c.1380C= (p.Ala460=)
c.471C= (p.Ala157=)
n.1166C=
n.457C=
c.2070C= (p.Ala690=)
c.*1051C= (n.*1051C=)
c.*1070C= (n.*1070C=)
c.1341C=
c.1995C= (p.Ala665=)
c.*1028C= (n.*1028C=)
c.915C= (p.Ala305=)
c.627C= (p.Ala209=)
c.2151C= (p.Ala717=)
c.1953C= (p.Ala651=)
c.1107C= (p.Ala369=)
c.1062C= (p.Ala354=)
c.894C= (p.Ala298=)
c.768C= (p.Ala256=)
12g.32625677C>GCA201184FGD4c.1659C>G (p.Ala553=)
c.1914C>G (p.Ala638=)
c.1380C>G (p.Ala460=)
c.471C>G (p.Ala157=)
n.1166C>G
n.457C>G
c.2070C>G (p.Ala690=)
c.*1051C>G (n.*1051C>G)
c.*1070C>G (n.*1070C>G)
c.1341C>G
c.1995C>G (p.Ala665=)
c.*1028C>G (n.*1028C>G)
c.915C>G (p.Ala305=)
c.627C>G (p.Ala209=)
c.2151C>G (p.Ala717=)
c.1953C>G (p.Ala651=)
c.1107C>G (p.Ala369=)
c.1062C>G (p.Ala354=)
c.894C>G (p.Ala298=)
c.768C>G (p.Ala256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625677C>TCA479169235FGD4c.1659C>T (p.Ala553=)
c.1914C>T (p.Ala638=)
c.1380C>T (p.Ala460=)
c.471C>T (p.Ala157=)
n.1166C>T
n.457C>T
c.2070C>T (p.Ala690=)
c.*1051C>T (n.*1051C>T)
c.*1070C>T (n.*1070C>T)
c.1341C>T
c.1995C>T (p.Ala665=)
c.*1028C>T (n.*1028C>T)
c.915C>T (p.Ala305=)
c.627C>T (p.Ala209=)
c.2151C>T (p.Ala717=)
c.1953C>T (p.Ala651=)
c.1107C>T (p.Ala369=)
c.1062C>T (p.Ala354=)
c.894C>T (p.Ala298=)
c.768C>T (p.Ala256=)
12g.32625678C>ACA384367322FGD4c.1660C>A (p.Pro554Thr)
c.1915C>A (p.Pro639Thr)
c.1381C>A (p.Pro461Thr)
c.472C>A (p.Pro158Thr)
n.1167C>A
n.458C>A
c.2071C>A (p.Pro691Thr)
c.*1052C>A (n.*1052C>A)
c.*1071C>A (n.*1071C>A)
c.1342C>A
c.1996C>A (p.Pro666Thr)
c.*1029C>A (n.*1029C>A)
c.916C>A (p.Pro306Thr)
c.628C>A (p.Pro210Thr)
c.2152C>A (p.Pro718Thr)
c.1954C>A (p.Pro652Thr)
c.1108C>A (p.Pro370Thr)
c.1063C>A (p.Pro355Thr)
c.895C>A (p.Pro299Thr)
c.769C>A (p.Pro257Thr)
12g.32625678C>GCA384367325FGD4c.1660C>G (p.Pro554Ala)
c.1915C>G (p.Pro639Ala)
c.1381C>G (p.Pro461Ala)
c.472C>G (p.Pro158Ala)
n.1167C>G
n.458C>G
c.2071C>G (p.Pro691Ala)
c.*1052C>G (n.*1052C>G)
c.*1071C>G (n.*1071C>G)
c.1342C>G
c.1996C>G (p.Pro666Ala)
c.*1029C>G (n.*1029C>G)
c.916C>G (p.Pro306Ala)
c.628C>G (p.Pro210Ala)
c.2152C>G (p.Pro718Ala)
c.1954C>G (p.Pro652Ala)
c.1108C>G (p.Pro370Ala)
c.1063C>G (p.Pro355Ala)
c.895C>G (p.Pro299Ala)
c.769C>G (p.Pro257Ala)
12g.32625678C>TCA384367328FGD4c.1660C>T (p.Pro554Ser)
c.1915C>T (p.Pro639Ser)
c.1381C>T (p.Pro461Ser)
c.472C>T (p.Pro158Ser)
n.1167C>T
n.458C>T
c.2071C>T (p.Pro691Ser)
c.*1052C>T (n.*1052C>T)
c.*1071C>T (n.*1071C>T)
c.1342C>T
c.1996C>T (p.Pro666Ser)
c.*1029C>T (n.*1029C>T)
c.916C>T (p.Pro306Ser)
c.628C>T (p.Pro210Ser)
c.2152C>T (p.Pro718Ser)
c.1954C>T (p.Pro652Ser)
c.1108C>T (p.Pro370Ser)
c.1063C>T (p.Pro355Ser)
c.895C>T (p.Pro299Ser)
c.769C>T (p.Pro257Ser)
12g.32625679C>ACA384367334FGD4c.1661C>A (p.Pro554Gln)
c.1916C>A (p.Pro639Gln)
c.1382C>A (p.Pro461Gln)
c.473C>A (p.Pro158Gln)
n.1168C>A
n.459C>A
c.2072C>A (p.Pro691Gln)
c.*1053C>A (n.*1053C>A)
c.*1072C>A (n.*1072C>A)
c.1343C>A
c.1997C>A (p.Pro666Gln)
c.*1030C>A (n.*1030C>A)
c.917C>A (p.Pro306Gln)
c.629C>A (p.Pro210Gln)
c.2153C>A (p.Pro718Gln)
c.1955C>A (p.Pro652Gln)
c.1109C>A (p.Pro370Gln)
c.1064C>A (p.Pro355Gln)
c.896C>A (p.Pro299Gln)
c.770C>A (p.Pro257Gln)
12g.32625679C>GCA384367336FGD4c.1661C>G (p.Pro554Arg)
c.1916C>G (p.Pro639Arg)
c.1382C>G (p.Pro461Arg)
c.473C>G (p.Pro158Arg)
n.1168C>G
n.459C>G
c.2072C>G (p.Pro691Arg)
c.*1053C>G (n.*1053C>G)
c.*1072C>G (n.*1072C>G)
c.1343C>G
c.1997C>G (p.Pro666Arg)
c.*1030C>G (n.*1030C>G)
c.917C>G (p.Pro306Arg)
c.629C>G (p.Pro210Arg)
c.2153C>G (p.Pro718Arg)
c.1955C>G (p.Pro652Arg)
c.1109C>G (p.Pro370Arg)
c.1064C>G (p.Pro355Arg)
c.896C>G (p.Pro299Arg)
c.770C>G (p.Pro257Arg)
12g.32625679C>TCA384367338FGD4c.1661C>T (p.Pro554Leu)
c.1916C>T (p.Pro639Leu)
c.1382C>T (p.Pro461Leu)
c.473C>T (p.Pro158Leu)
n.1168C>T
n.459C>T
c.2072C>T (p.Pro691Leu)
c.*1053C>T (n.*1053C>T)
c.*1072C>T (n.*1072C>T)
c.1343C>T
c.1997C>T (p.Pro666Leu)
c.*1030C>T (n.*1030C>T)
c.917C>T (p.Pro306Leu)
c.629C>T (p.Pro210Leu)
c.2153C>T (p.Pro718Leu)
c.1955C>T (p.Pro652Leu)
c.1109C>T (p.Pro370Leu)
c.1064C>T (p.Pro355Leu)
c.896C>T (p.Pro299Leu)
c.770C>T (p.Pro257Leu)
12g.32625680A>CCA479169241FGD4c.1662A>C (p.Pro554=)
c.1917A>C (p.Pro639=)
c.1383A>C (p.Pro461=)
c.474A>C (p.Pro158=)
n.1169A>C
n.460A>C
c.2073A>C (p.Pro691=)
c.*1054A>C (n.*1054A>C)
c.*1073A>C (n.*1073A>C)
c.1344A>C
c.1998A>C (p.Pro666=)
c.*1031A>C (n.*1031A>C)
c.918A>C (p.Pro306=)
c.630A>C (p.Pro210=)
c.2154A>C (p.Pro718=)
c.1956A>C (p.Pro652=)
c.1110A>C (p.Pro370=)
c.1065A>C (p.Pro355=)
c.897A>C (p.Pro299=)
c.771A>C (p.Pro257=)
 gnomAD v4
12g.32625680A>GCA479169239FGD4c.1662A>G (p.Pro554=)
c.1917A>G (p.Pro639=)
c.1383A>G (p.Pro461=)
c.474A>G (p.Pro158=)
n.1169A>G
n.460A>G
c.2073A>G (p.Pro691=)
c.*1054A>G (n.*1054A>G)
c.*1073A>G (n.*1073A>G)
c.1344A>G
c.1998A>G (p.Pro666=)
c.*1031A>G (n.*1031A>G)
c.918A>G (p.Pro306=)
c.630A>G (p.Pro210=)
c.2154A>G (p.Pro718=)
c.1956A>G (p.Pro652=)
c.1110A>G (p.Pro370=)
c.1065A>G (p.Pro355=)
c.897A>G (p.Pro299=)
c.771A>G (p.Pro257=)
12g.32625680A>TCA479169237FGD4c.1662A>T (p.Pro554=)
c.1917A>T (p.Pro639=)
c.1383A>T (p.Pro461=)
c.474A>T (p.Pro158=)
n.1169A>T
n.460A>T
c.2073A>T (p.Pro691=)
c.*1054A>T (n.*1054A>T)
c.*1073A>T (n.*1073A>T)
c.1344A>T
c.1998A>T (p.Pro666=)
c.*1031A>T (n.*1031A>T)
c.918A>T (p.Pro306=)
c.630A>T (p.Pro210=)
c.2154A>T (p.Pro718=)
c.1956A>T (p.Pro652=)
c.1110A>T (p.Pro370=)
c.1065A>T (p.Pro355=)
c.897A>T (p.Pro299=)
c.771A>T (p.Pro257=)
12g.32625681A>CCA479169242FGD4c.1663A>C (p.Arg555=)
c.1918A>C (p.Arg640=)
c.1384A>C (p.Arg462=)
c.475A>C (p.Arg159=)
n.1170A>C
n.461A>C
c.2074A>C (p.Arg692=)
c.*1055A>C (n.*1055A>C)
c.*1074A>C (n.*1074A>C)
c.1345A>C
c.1999A>C (p.Arg667=)
c.*1032A>C (n.*1032A>C)
c.919A>C (p.Arg307=)
c.631A>C (p.Arg211=)
c.2155A>C (p.Arg719=)
c.1957A>C (p.Arg653=)
c.1111A>C (p.Arg371=)
c.1066A>C (p.Arg356=)
c.898A>C (p.Arg300=)
c.772A>C (p.Arg258=)
12g.32625681A>GCA384367341FGD4c.1663A>G (p.Arg555Gly)
c.1918A>G (p.Arg640Gly)
c.1384A>G (p.Arg462Gly)
c.475A>G (p.Arg159Gly)
n.1170A>G
n.461A>G
c.2074A>G (p.Arg692Gly)
c.*1055A>G (n.*1055A>G)
c.*1074A>G (n.*1074A>G)
c.1345A>G
c.1999A>G (p.Arg667Gly)
c.*1032A>G (n.*1032A>G)
c.919A>G (p.Arg307Gly)
c.631A>G (p.Arg211Gly)
c.2155A>G (p.Arg719Gly)
c.1957A>G (p.Arg653Gly)
c.1111A>G (p.Arg371Gly)
c.1066A>G (p.Arg356Gly)
c.898A>G (p.Arg300Gly)
c.772A>G (p.Arg258Gly)
12g.32625681A>TCA384367348FGD4c.1663A>T (p.Arg555Ter)
c.1918A>T (p.Arg640Ter)
c.1384A>T (p.Arg462Ter)
c.475A>T (p.Arg159Ter)
n.1170A>T
n.461A>T
c.2074A>T (p.Arg692Ter)
c.*1055A>T (n.*1055A>T)
c.*1074A>T (n.*1074A>T)
c.1345A>T
c.1999A>T (p.Arg667Ter)
c.*1032A>T (n.*1032A>T)
c.919A>T (p.Arg307Ter)
c.631A>T (p.Arg211Ter)
c.2155A>T (p.Arg719Ter)
c.1957A>T (p.Arg653Ter)
c.1111A>T (p.Arg371Ter)
c.1066A>T (p.Arg356Ter)
c.898A>T (p.Arg300Ter)
c.772A>T (p.Arg258Ter)
12g.32625682G>ACA384367362FGD4c.1664G>A (p.Arg555Lys)
c.1919G>A (p.Arg640Lys)
c.1385G>A (p.Arg462Lys)
c.476G>A (p.Arg159Lys)
n.1171G>A
n.462G>A
c.2075G>A (p.Arg692Lys)
c.*1056G>A (n.*1056G>A)
c.*1075G>A (n.*1075G>A)
c.1346G>A
c.2000G>A (p.Arg667Lys)
c.*1033G>A (n.*1033G>A)
c.920G>A (p.Arg307Lys)
c.632G>A (p.Arg211Lys)
c.2156G>A (p.Arg719Lys)
c.1958G>A (p.Arg653Lys)
c.1112G>A (p.Arg371Lys)
c.1067G>A (p.Arg356Lys)
c.899G>A (p.Arg300Lys)
c.773G>A (p.Arg258Lys)
 gnomAD v4
12g.32625682G>CCA384367358FGD4c.1664G>C (p.Arg555Thr)
c.1919G>C (p.Arg640Thr)
c.1385G>C (p.Arg462Thr)
c.476G>C (p.Arg159Thr)
n.1171G>C
n.462G>C
c.2075G>C (p.Arg692Thr)
c.*1056G>C (n.*1056G>C)
c.*1075G>C (n.*1075G>C)
c.1346G>C
c.2000G>C (p.Arg667Thr)
c.*1033G>C (n.*1033G>C)
c.920G>C (p.Arg307Thr)
c.632G>C (p.Arg211Thr)
c.2156G>C (p.Arg719Thr)
c.1958G>C (p.Arg653Thr)
c.1112G>C (p.Arg371Thr)
c.1067G>C (p.Arg356Thr)
c.899G>C (p.Arg300Thr)
c.773G>C (p.Arg258Thr)
12g.32625682G>TCA384367354FGD4c.1664G>T (p.Arg555Ile)
c.1919G>T (p.Arg640Ile)
c.1385G>T (p.Arg462Ile)
c.476G>T (p.Arg159Ile)
n.1171G>T
n.462G>T
c.2075G>T (p.Arg692Ile)
c.*1056G>T (n.*1056G>T)
c.*1075G>T (n.*1075G>T)
c.1346G>T
c.2000G>T (p.Arg667Ile)
c.*1033G>T (n.*1033G>T)
c.920G>T (p.Arg307Ile)
c.632G>T (p.Arg211Ile)
c.2156G>T (p.Arg719Ile)
c.1958G>T (p.Arg653Ile)
c.1112G>T (p.Arg371Ile)
c.1067G>T (p.Arg356Ile)
c.899G>T (p.Arg300Ile)
c.773G>T (p.Arg258Ile)
12g.32625683A>CCA384367367FGD4c.1665A>C (p.Arg555Ser)
c.1920A>C (p.Arg640Ser)
c.1386A>C (p.Arg462Ser)
c.477A>C (p.Arg159Ser)
n.1172A>C
n.463A>C
c.2076A>C (p.Arg692Ser)
c.*1057A>C (n.*1057A>C)
c.*1076A>C (n.*1076A>C)
c.1347A>C
c.2001A>C (p.Arg667Ser)
c.*1034A>C (n.*1034A>C)
c.921A>C (p.Arg307Ser)
c.633A>C (p.Arg211Ser)
c.2157A>C (p.Arg719Ser)
c.1959A>C (p.Arg653Ser)
c.1113A>C (p.Arg371Ser)
c.1068A>C (p.Arg356Ser)
c.900A>C (p.Arg300Ser)
c.774A>C (p.Arg258Ser)
12g.32625683A>GCA479169246FGD4c.1665A>G (p.Arg555=)
c.1920A>G (p.Arg640=)
c.1386A>G (p.Arg462=)
c.477A>G (p.Arg159=)
n.1172A>G
n.463A>G
c.2076A>G (p.Arg692=)
c.*1057A>G (n.*1057A>G)
c.*1076A>G (n.*1076A>G)
c.1347A>G
c.2001A>G (p.Arg667=)
c.*1034A>G (n.*1034A>G)
c.921A>G (p.Arg307=)
c.633A>G (p.Arg211=)
c.2157A>G (p.Arg719=)
c.1959A>G (p.Arg653=)
c.1113A>G (p.Arg371=)
c.1068A>G (p.Arg356=)
c.900A>G (p.Arg300=)
c.774A>G (p.Arg258=)
 ClinVar
12g.32625683A>TCA384367368FGD4c.1665A>T (p.Arg555Ser)
c.1920A>T (p.Arg640Ser)
c.1386A>T (p.Arg462Ser)
c.477A>T (p.Arg159Ser)
n.1172A>T
n.463A>T
c.2076A>T (p.Arg692Ser)
c.*1057A>T (n.*1057A>T)
c.*1076A>T (n.*1076A>T)
c.1347A>T
c.2001A>T (p.Arg667Ser)
c.*1034A>T (n.*1034A>T)
c.921A>T (p.Arg307Ser)
c.633A>T (p.Arg211Ser)
c.2157A>T (p.Arg719Ser)
c.1959A>T (p.Arg653Ser)
c.1113A>T (p.Arg371Ser)
c.1068A>T (p.Arg356Ser)
c.900A>T (p.Arg300Ser)
c.774A>T (p.Arg258Ser)
12g.32625684T>ACA384367373FGD4c.1666T>A (p.Trp556Arg)
c.1921T>A (p.Trp641Arg)
c.1387T>A (p.Trp463Arg)
c.478T>A (p.Trp160Arg)
n.1173T>A
n.464T>A
c.2077T>A (p.Trp693Arg)
c.*1058T>A (n.*1058T>A)
c.*1077T>A (n.*1077T>A)
c.1348T>A
c.2002T>A (p.Trp668Arg)
c.*1035T>A (n.*1035T>A)
c.922T>A (p.Trp308Arg)
c.634T>A (p.Trp212Arg)
c.2158T>A (p.Trp720Arg)
c.1960T>A (p.Trp654Arg)
c.1114T>A (p.Trp372Arg)
c.1069T>A (p.Trp357Arg)
c.901T>A (p.Trp301Arg)
c.775T>A (p.Trp259Arg)
12g.32625684T>CCA384367379FGD4c.1666T>C (p.Trp556Arg)
c.1921T>C (p.Trp641Arg)
c.1387T>C (p.Trp463Arg)
c.478T>C (p.Trp160Arg)
n.1173T>C
n.464T>C
c.2077T>C (p.Trp693Arg)
c.*1058T>C (n.*1058T>C)
c.*1077T>C (n.*1077T>C)
c.1348T>C
c.2002T>C (p.Trp668Arg)
c.*1035T>C (n.*1035T>C)
c.922T>C (p.Trp308Arg)
c.634T>C (p.Trp212Arg)
c.2158T>C (p.Trp720Arg)
c.1960T>C (p.Trp654Arg)
c.1114T>C (p.Trp372Arg)
c.1069T>C (p.Trp357Arg)
c.901T>C (p.Trp301Arg)
c.775T>C (p.Trp259Arg)
12g.32625684T>GCA384367383FGD4c.1666T>G (p.Trp556Gly)
c.1921T>G (p.Trp641Gly)
c.1387T>G (p.Trp463Gly)
c.478T>G (p.Trp160Gly)
n.1173T>G
n.464T>G
c.2077T>G (p.Trp693Gly)
c.*1058T>G (n.*1058T>G)
c.*1077T>G (n.*1077T>G)
c.1348T>G
c.2002T>G (p.Trp668Gly)
c.*1035T>G (n.*1035T>G)
c.922T>G (p.Trp308Gly)
c.634T>G (p.Trp212Gly)
c.2158T>G (p.Trp720Gly)
c.1960T>G (p.Trp654Gly)
c.1114T>G (p.Trp372Gly)
c.1069T>G (p.Trp357Gly)
c.901T>G (p.Trp301Gly)
c.775T>G (p.Trp259Gly)
12g.32625685G>ACA384367388FGD4c.1667G>A (p.Trp556Ter)
c.1922G>A (p.Trp641Ter)
c.1388G>A (p.Trp463Ter)
c.479G>A (p.Trp160Ter)
n.1174G>A
n.465G>A
c.2078G>A (p.Trp693Ter)
c.*1059G>A (n.*1059G>A)
c.*1078G>A (n.*1078G>A)
c.1349G>A
c.2003G>A (p.Trp668Ter)
c.*1036G>A (n.*1036G>A)
c.923G>A (p.Trp308Ter)
c.635G>A (p.Trp212Ter)
c.2159G>A (p.Trp720Ter)
c.1961G>A (p.Trp654Ter)
c.1115G>A (p.Trp372Ter)
c.1070G>A (p.Trp357Ter)
c.902G>A (p.Trp301Ter)
c.776G>A (p.Trp259Ter)
 dbSNP gnomAD v2
12g.32625685G>CCA384367391FGD4c.1667G>C (p.Trp556Ser)
c.1922G>C (p.Trp641Ser)
c.1388G>C (p.Trp463Ser)
c.479G>C (p.Trp160Ser)
n.1174G>C
n.465G>C
c.2078G>C (p.Trp693Ser)
c.*1059G>C (n.*1059G>C)
c.*1078G>C (n.*1078G>C)
c.1349G>C
c.2003G>C (p.Trp668Ser)
c.*1036G>C (n.*1036G>C)
c.923G>C (p.Trp308Ser)
c.635G>C (p.Trp212Ser)
c.2159G>C (p.Trp720Ser)
c.1961G>C (p.Trp654Ser)
c.1115G>C (p.Trp372Ser)
c.1070G>C (p.Trp357Ser)
c.902G>C (p.Trp301Ser)
c.776G>C (p.Trp259Ser)
12g.32625685G=CA2026243854FGD4c.1667G= (p.Trp556=)
c.1922G= (p.Trp641=)
c.1388G= (p.Trp463=)
c.479G= (p.Trp160=)
n.1174G=
n.465G=
c.2078G= (p.Trp693=)
c.*1059G= (n.*1059G=)
c.*1078G= (n.*1078G=)
c.1349G=
c.2003G= (p.Trp668=)
c.*1036G= (n.*1036G=)
c.923G= (p.Trp308=)
c.635G= (p.Trp212=)
c.2159G= (p.Trp720=)
c.1961G= (p.Trp654=)
c.1115G= (p.Trp372=)
c.1070G= (p.Trp357=)
c.902G= (p.Trp301=)
c.776G= (p.Trp259=)
12g.32625685G>TCA384367394FGD4c.1667G>T (p.Trp556Leu)
c.1922G>T (p.Trp641Leu)
c.1388G>T (p.Trp463Leu)
c.479G>T (p.Trp160Leu)
n.1174G>T
n.465G>T
c.2078G>T (p.Trp693Leu)
c.*1059G>T (n.*1059G>T)
c.*1078G>T (n.*1078G>T)
c.1349G>T
c.2003G>T (p.Trp668Leu)
c.*1036G>T (n.*1036G>T)
c.923G>T (p.Trp308Leu)
c.635G>T (p.Trp212Leu)
c.2159G>T (p.Trp720Leu)
c.1961G>T (p.Trp654Leu)
c.1115G>T (p.Trp372Leu)
c.1070G>T (p.Trp357Leu)
c.902G>T (p.Trp301Leu)
c.776G>T (p.Trp259Leu)
12g.32625686G>ACA6506985FGD4c.1668G>A (p.Trp556Ter)
c.1923G>A (p.Trp641Ter)
c.1389G>A (p.Trp463Ter)
c.480G>A (p.Trp160Ter)
n.1175G>A
n.466G>A
c.2079G>A (p.Trp693Ter)
c.*1060G>A (n.*1060G>A)
c.*1079G>A (n.*1079G>A)
c.1350G>A
c.2004G>A (p.Trp668Ter)
c.*1037G>A (n.*1037G>A)
c.924G>A (p.Trp308Ter)
c.636G>A (p.Trp212Ter)
c.2160G>A (p.Trp720Ter)
c.1962G>A (p.Trp654Ter)
c.1116G>A (p.Trp372Ter)
c.1071G>A (p.Trp357Ter)
c.903G>A (p.Trp301Ter)
c.777G>A (p.Trp259Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.32625686G>CCA384367395FGD4c.1668G>C (p.Trp556Cys)
c.1923G>C (p.Trp641Cys)
c.1389G>C (p.Trp463Cys)
c.480G>C (p.Trp160Cys)
n.1175G>C
n.466G>C
c.2079G>C (p.Trp693Cys)
c.*1060G>C (n.*1060G>C)
c.*1079G>C (n.*1079G>C)
c.1350G>C
c.2004G>C (p.Trp668Cys)
c.*1037G>C (n.*1037G>C)
c.924G>C (p.Trp308Cys)
c.636G>C (p.Trp212Cys)
c.2160G>C (p.Trp720Cys)
c.1962G>C (p.Trp654Cys)
c.1116G>C (p.Trp372Cys)
c.1071G>C (p.Trp357Cys)
c.903G>C (p.Trp301Cys)
c.777G>C (p.Trp259Cys)
12g.32625686G=CA2026243862FGD4c.1668G= (p.Trp556=)
c.1923G= (p.Trp641=)
c.1389G= (p.Trp463=)
c.480G= (p.Trp160=)
n.1175G=
n.466G=
c.2079G= (p.Trp693=)
c.*1060G= (n.*1060G=)
c.*1079G= (n.*1079G=)
c.1350G=
c.2004G= (p.Trp668=)
c.*1037G= (n.*1037G=)
c.924G= (p.Trp308=)
c.636G= (p.Trp212=)
c.2160G= (p.Trp720=)
c.1962G= (p.Trp654=)
c.1116G= (p.Trp372=)
c.1071G= (p.Trp357=)
c.903G= (p.Trp301=)
c.777G= (p.Trp259=)
12g.32625686G>TCA384367397FGD4c.1668G>T (p.Trp556Cys)
c.1923G>T (p.Trp641Cys)
c.1389G>T (p.Trp463Cys)
c.480G>T (p.Trp160Cys)
n.1175G>T
n.466G>T
c.2079G>T (p.Trp693Cys)
c.*1060G>T (n.*1060G>T)
c.*1079G>T (n.*1079G>T)
c.1350G>T
c.2004G>T (p.Trp668Cys)
c.*1037G>T (n.*1037G>T)
c.924G>T (p.Trp308Cys)
c.636G>T (p.Trp212Cys)
c.2160G>T (p.Trp720Cys)
c.1962G>T (p.Trp654Cys)
c.1116G>T (p.Trp372Cys)
c.1071G>T (p.Trp357Cys)
c.903G>T (p.Trp301Cys)
c.777G>T (p.Trp259Cys)
12g.32625687A>CCA384367400FGD4c.1669A>C (p.Ile557Leu)
c.1924A>C (p.Ile642Leu)
c.1390A>C (p.Ile464Leu)
c.481A>C (p.Ile161Leu)
n.1176A>C
n.467A>C
c.2080A>C (p.Ile694Leu)
c.*1061A>C (n.*1061A>C)
c.*1080A>C (n.*1080A>C)
c.1351A>C
c.2005A>C (p.Ile669Leu)
c.*1038A>C (n.*1038A>C)
c.925A>C (p.Ile309Leu)
c.637A>C (p.Ile213Leu)
c.2161A>C (p.Ile721Leu)
c.1963A>C (p.Ile655Leu)
c.1117A>C (p.Ile373Leu)
c.1072A>C (p.Ile358Leu)
c.904A>C (p.Ile302Leu)
c.778A>C (p.Ile260Leu)
12g.32625687A>GCA384367405FGD4c.1669A>G (p.Ile557Val)
c.1924A>G (p.Ile642Val)
c.1390A>G (p.Ile464Val)
c.481A>G (p.Ile161Val)
n.1176A>G
n.467A>G
c.2080A>G (p.Ile694Val)
c.*1061A>G (n.*1061A>G)
c.*1080A>G (n.*1080A>G)
c.1351A>G
c.2005A>G (p.Ile669Val)
c.*1038A>G (n.*1038A>G)
c.925A>G (p.Ile309Val)
c.637A>G (p.Ile213Val)
c.2161A>G (p.Ile721Val)
c.1963A>G (p.Ile655Val)
c.1117A>G (p.Ile373Val)
c.1072A>G (p.Ile358Val)
c.904A>G (p.Ile302Val)
c.778A>G (p.Ile260Val)
12g.32625687A>TCA384367408FGD4c.1669A>T (p.Ile557Phe)
c.1924A>T (p.Ile642Phe)
c.1390A>T (p.Ile464Phe)
c.481A>T (p.Ile161Phe)
n.1176A>T
n.467A>T
c.2080A>T (p.Ile694Phe)
c.*1061A>T (n.*1061A>T)
c.*1080A>T (n.*1080A>T)
c.1351A>T
c.2005A>T (p.Ile669Phe)
c.*1038A>T (n.*1038A>T)
c.925A>T (p.Ile309Phe)
c.637A>T (p.Ile213Phe)
c.2161A>T (p.Ile721Phe)
c.1963A>T (p.Ile655Phe)
c.1117A>T (p.Ile373Phe)
c.1072A>T (p.Ile358Phe)
c.904A>T (p.Ile302Phe)
c.778A>T (p.Ile260Phe)
12g.32625688T>ACA384367414FGD4c.1670T>A (p.Ile557Asn)
c.1925T>A (p.Ile642Asn)
c.1391T>A (p.Ile464Asn)
c.482T>A (p.Ile161Asn)
n.1177T>A
n.468T>A
c.2081T>A (p.Ile694Asn)
c.*1062T>A (n.*1062T>A)
c.*1081T>A (n.*1081T>A)
c.1352T>A
c.2006T>A (p.Ile669Asn)
c.*1039T>A (n.*1039T>A)
c.926T>A (p.Ile309Asn)
c.638T>A (p.Ile213Asn)
c.2162T>A (p.Ile721Asn)
c.1964T>A (p.Ile655Asn)
c.1118T>A (p.Ile373Asn)
c.1073T>A (p.Ile358Asn)
c.905T>A (p.Ile302Asn)
c.779T>A (p.Ile260Asn)
 gnomAD v4
12g.32625688T>CCA384367417FGD4c.1670T>C (p.Ile557Thr)
c.1925T>C (p.Ile642Thr)
c.1391T>C (p.Ile464Thr)
c.482T>C (p.Ile161Thr)
n.1177T>C
n.468T>C
c.2081T>C (p.Ile694Thr)
c.*1062T>C (n.*1062T>C)
c.*1081T>C (n.*1081T>C)
c.1352T>C
c.2006T>C (p.Ile669Thr)
c.*1039T>C (n.*1039T>C)
c.926T>C (p.Ile309Thr)
c.638T>C (p.Ile213Thr)
c.2162T>C (p.Ile721Thr)
c.1964T>C (p.Ile655Thr)
c.1118T>C (p.Ile373Thr)
c.1073T>C (p.Ile358Thr)
c.905T>C (p.Ile302Thr)
c.779T>C (p.Ile260Thr)
12g.32625688T>GCA384367411FGD4c.1670T>G (p.Ile557Ser)
c.1925T>G (p.Ile642Ser)
c.1391T>G (p.Ile464Ser)
c.482T>G (p.Ile161Ser)
n.1177T>G
n.468T>G
c.2081T>G (p.Ile694Ser)
c.*1062T>G (n.*1062T>G)
c.*1081T>G (n.*1081T>G)
c.1352T>G
c.2006T>G (p.Ile669Ser)
c.*1039T>G (n.*1039T>G)
c.926T>G (p.Ile309Ser)
c.638T>G (p.Ile213Ser)
c.2162T>G (p.Ile721Ser)
c.1964T>G (p.Ile655Ser)
c.1118T>G (p.Ile373Ser)
c.1073T>G (p.Ile358Ser)
c.905T>G (p.Ile302Ser)
c.779T>G (p.Ile260Ser)
12g.32625689C>ACA479169249FGD4c.1671C>A (p.Ile557=)
c.1926C>A (p.Ile642=)
c.1392C>A (p.Ile464=)
c.483C>A (p.Ile161=)
n.1178C>A
n.469C>A
c.2082C>A (p.Ile694=)
c.*1063C>A (n.*1063C>A)
c.*1082C>A (n.*1082C>A)
c.1353C>A
c.2007C>A (p.Ile669=)
c.*1040C>A (n.*1040C>A)
c.927C>A (p.Ile309=)
c.639C>A (p.Ile213=)
c.2163C>A (p.Ile721=)
c.1965C>A (p.Ile655=)
c.1119C>A (p.Ile373=)
c.1074C>A (p.Ile358=)
c.906C>A (p.Ile302=)
c.780C>A (p.Ile260=)
12g.32625689C>GCA384367422FGD4c.1671C>G (p.Ile557Met)
c.1926C>G (p.Ile642Met)
c.1392C>G (p.Ile464Met)
c.483C>G (p.Ile161Met)
n.1178C>G
n.469C>G
c.2082C>G (p.Ile694Met)
c.*1063C>G (n.*1063C>G)
c.*1082C>G (n.*1082C>G)
c.1353C>G
c.2007C>G (p.Ile669Met)
c.*1040C>G (n.*1040C>G)
c.927C>G (p.Ile309Met)
c.639C>G (p.Ile213Met)
c.2163C>G (p.Ile721Met)
c.1965C>G (p.Ile655Met)
c.1119C>G (p.Ile373Met)
c.1074C>G (p.Ile358Met)
c.906C>G (p.Ile302Met)
c.780C>G (p.Ile260Met)
12g.32625689C>TCA479169251FGD4c.1671C>T (p.Ile557=)
c.1926C>T (p.Ile642=)
c.1392C>T (p.Ile464=)
c.483C>T (p.Ile161=)
n.1178C>T
n.469C>T
c.2082C>T (p.Ile694=)
c.*1063C>T (n.*1063C>T)
c.*1082C>T (n.*1082C>T)
c.1353C>T
c.2007C>T (p.Ile669=)
c.*1040C>T (n.*1040C>T)
c.927C>T (p.Ile309=)
c.639C>T (p.Ile213=)
c.2163C>T (p.Ile721=)
c.1965C>T (p.Ile655=)
c.1119C>T (p.Ile373=)
c.1074C>T (p.Ile358=)
c.906C>T (p.Ile302=)
c.780C>T (p.Ile260=)
12g.32625690C>ACA479169252FGD4c.1672C>A (p.Arg558=)
c.1927C>A (p.Arg643=)
c.1393C>A (p.Arg465=)
c.484C>A (p.Arg162=)
n.1179C>A
n.470C>A
c.2083C>A (p.Arg695=)
c.*1064C>A (n.*1064C>A)
c.*1083C>A (n.*1083C>A)
c.1354C>A
c.2008C>A (p.Arg670=)
c.*1041C>A (n.*1041C>A)
c.928C>A (p.Arg310=)
c.640C>A (p.Arg214=)
c.2164C>A (p.Arg722=)
c.1966C>A (p.Arg656=)
c.1120C>A (p.Arg374=)
c.1075C>A (p.Arg359=)
c.907C>A (p.Arg303=)
c.781C>A (p.Arg261=)
12g.32625690C=CA2026243866FGD4c.1672C= (p.Arg558=)
c.1927C= (p.Arg643=)
c.1393C= (p.Arg465=)
c.484C= (p.Arg162=)
n.1179C=
n.470C=
c.2083C= (p.Arg695=)
c.*1064C= (n.*1064C=)
c.*1083C= (n.*1083C=)
c.1354C=
c.2008C= (p.Arg670=)
c.*1041C= (n.*1041C=)
c.928C= (p.Arg310=)
c.640C= (p.Arg214=)
c.2164C= (p.Arg722=)
c.1966C= (p.Arg656=)
c.1120C= (p.Arg374=)
c.1075C= (p.Arg359=)
c.907C= (p.Arg303=)
c.781C= (p.Arg261=)
12g.32625690C>GCA384367427FGD4c.1672C>G (p.Arg558Gly)
c.1927C>G (p.Arg643Gly)
c.1393C>G (p.Arg465Gly)
c.484C>G (p.Arg162Gly)
n.1179C>G
n.470C>G
c.2083C>G (p.Arg695Gly)
c.*1064C>G (n.*1064C>G)
c.*1083C>G (n.*1083C>G)
c.1354C>G
c.2008C>G (p.Arg670Gly)
c.*1041C>G (n.*1041C>G)
c.928C>G (p.Arg310Gly)
c.640C>G (p.Arg214Gly)
c.2164C>G (p.Arg722Gly)
c.1966C>G (p.Arg656Gly)
c.1120C>G (p.Arg374Gly)
c.1075C>G (p.Arg359Gly)
c.907C>G (p.Arg303Gly)
c.781C>G (p.Arg261Gly)
12g.32625690C>TCA235236173FGD4c.1672C>T (p.Arg558Ter)
c.1927C>T (p.Arg643Ter)
c.1393C>T (p.Arg465Ter)
c.484C>T (p.Arg162Ter)
n.1179C>T
n.470C>T
c.2083C>T (p.Arg695Ter)
c.*1064C>T (n.*1064C>T)
c.*1083C>T (n.*1083C>T)
c.1354C>T
c.2008C>T (p.Arg670Ter)
c.*1041C>T (n.*1041C>T)
c.928C>T (p.Arg310Ter)
c.640C>T (p.Arg214Ter)
c.2164C>T (p.Arg722Ter)
c.1966C>T (p.Arg656Ter)
c.1120C>T (p.Arg374Ter)
c.1075C>T (p.Arg359Ter)
c.907C>T (p.Arg303Ter)
c.781C>T (p.Arg261Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.32625691G>ACA384367435FGD4c.1673G>A (p.Arg558Gln)
c.1928G>A (p.Arg643Gln)
c.1394G>A (p.Arg465Gln)
c.485G>A (p.Arg162Gln)
n.1180G>A
n.471G>A
c.2084G>A (p.Arg695Gln)
c.*1065G>A (n.*1065G>A)
c.*1084G>A (n.*1084G>A)
c.1355G>A
c.2009G>A (p.Arg670Gln)
c.*1042G>A (n.*1042G>A)
c.929G>A (p.Arg310Gln)
c.641G>A (p.Arg214Gln)
c.2165G>A (p.Arg722Gln)
c.1967G>A (p.Arg656Gln)
c.1121G>A (p.Arg374Gln)
c.1076G>A (p.Arg359Gln)
c.908G>A (p.Arg303Gln)
c.782G>A (p.Arg261Gln)
 dbSNP gnomAD v4 COSMIC COSMIC
12g.32625691G>CCA384367437FGD4c.1673G>C (p.Arg558Pro)
c.1928G>C (p.Arg643Pro)
c.1394G>C (p.Arg465Pro)
c.485G>C (p.Arg162Pro)
n.1180G>C
n.471G>C
c.2084G>C (p.Arg695Pro)
c.*1065G>C (n.*1065G>C)
c.*1084G>C (n.*1084G>C)
c.1355G>C
c.2009G>C (p.Arg670Pro)
c.*1042G>C (n.*1042G>C)
c.929G>C (p.Arg310Pro)
c.641G>C (p.Arg214Pro)
c.2165G>C (p.Arg722Pro)
c.1967G>C (p.Arg656Pro)
c.1121G>C (p.Arg374Pro)
c.1076G>C (p.Arg359Pro)
c.908G>C (p.Arg303Pro)
c.782G>C (p.Arg261Pro)
12g.32625691G=CA2026243870FGD4c.1673G= (p.Arg558=)
c.1928G= (p.Arg643=)
c.1394G= (p.Arg465=)
c.485G= (p.Arg162=)
n.1180G=
n.471G=
c.2084G= (p.Arg695=)
c.*1065G= (n.*1065G=)
c.*1084G= (n.*1084G=)
c.1355G=
c.2009G= (p.Arg670=)
c.*1042G= (n.*1042G=)
c.929G= (p.Arg310=)
c.641G= (p.Arg214=)
c.2165G= (p.Arg722=)
c.1967G= (p.Arg656=)
c.1121G= (p.Arg374=)
c.1076G= (p.Arg359=)
c.908G= (p.Arg303=)
c.782G= (p.Arg261=)
12g.32625691G>TCA384367442FGD4c.1673G>T (p.Arg558Leu)
c.1928G>T (p.Arg643Leu)
c.1394G>T (p.Arg465Leu)
c.485G>T (p.Arg162Leu)
n.1180G>T
n.471G>T
c.2084G>T (p.Arg695Leu)
c.*1065G>T (n.*1065G>T)
c.*1084G>T (n.*1084G>T)
c.1355G>T
c.2009G>T (p.Arg670Leu)
c.*1042G>T (n.*1042G>T)
c.929G>T (p.Arg310Leu)
c.641G>T (p.Arg214Leu)
c.2165G>T (p.Arg722Leu)
c.1967G>T (p.Arg656Leu)
c.1121G>T (p.Arg374Leu)
c.1076G>T (p.Arg359Leu)
c.908G>T (p.Arg303Leu)
c.782G>T (p.Arg261Leu)
 COSMIC COSMIC
12g.32625692A>CCA479169255FGD4c.1674A>C (p.Arg558=)
c.1929A>C (p.Arg643=)
c.1395A>C (p.Arg465=)
c.486A>C (p.Arg162=)
n.1181A>C
n.472A>C
c.2085A>C (p.Arg695=)
c.*1066A>C (n.*1066A>C)
c.*1085A>C (n.*1085A>C)
c.1356A>C
c.2010A>C (p.Arg670=)
c.*1043A>C (n.*1043A>C)
c.930A>C (p.Arg310=)
c.642A>C (p.Arg214=)
c.2166A>C (p.Arg722=)
c.1968A>C (p.Arg656=)
c.1122A>C (p.Arg374=)
c.1077A>C (p.Arg359=)
c.909A>C (p.Arg303=)
c.783A>C (p.Arg261=)
12g.32625692A>GCA479169257FGD4c.1674A>G (p.Arg558=)
c.1929A>G (p.Arg643=)
c.1395A>G (p.Arg465=)
c.486A>G (p.Arg162=)
n.1181A>G
n.472A>G
c.2085A>G (p.Arg695=)
c.*1066A>G (n.*1066A>G)
c.*1085A>G (n.*1085A>G)
c.1356A>G
c.2010A>G (p.Arg670=)
c.*1043A>G (n.*1043A>G)
c.930A>G (p.Arg310=)
c.642A>G (p.Arg214=)
c.2166A>G (p.Arg722=)
c.1968A>G (p.Arg656=)
c.1122A>G (p.Arg374=)
c.1077A>G (p.Arg359=)
c.909A>G (p.Arg303=)
c.783A>G (p.Arg261=)
12g.32625692A>TCA479169259FGD4c.1674A>T (p.Arg558=)
c.1929A>T (p.Arg643=)
c.1395A>T (p.Arg465=)
c.486A>T (p.Arg162=)
n.1181A>T
n.472A>T
c.2085A>T (p.Arg695=)
c.*1066A>T (n.*1066A>T)
c.*1085A>T (n.*1085A>T)
c.1356A>T
c.2010A>T (p.Arg670=)
c.*1043A>T (n.*1043A>T)
c.930A>T (p.Arg310=)
c.642A>T (p.Arg214=)
c.2166A>T (p.Arg722=)
c.1968A>T (p.Arg656=)
c.1122A>T (p.Arg374=)
c.1077A>T (p.Arg359=)
c.909A>T (p.Arg303=)
c.783A>T (p.Arg261=)
12g.32625693G>ACA384367445FGD4c.1675G>A (p.Asp559Asn)
c.1930G>A (p.Asp644Asn)
c.1396G>A (p.Asp466Asn)
c.487G>A (p.Asp163Asn)
n.1182G>A
n.473G>A
c.2086G>A (p.Asp696Asn)
c.*1067G>A (n.*1067G>A)
c.*1086G>A (n.*1086G>A)
c.1357G>A
c.2011G>A (p.Asp671Asn)
c.*1044G>A (n.*1044G>A)
c.931G>A (p.Asp311Asn)
c.643G>A (p.Asp215Asn)
c.2167G>A (p.Asp723Asn)
c.1969G>A (p.Asp657Asn)
c.1123G>A (p.Asp375Asn)
c.1078G>A (p.Asp360Asn)
c.910G>A (p.Asp304Asn)
c.784G>A (p.Asp262Asn)
12g.32625693G>CCA384367448FGD4c.1675G>C (p.Asp559His)
c.1930G>C (p.Asp644His)
c.1396G>C (p.Asp466His)
c.487G>C (p.Asp163His)
n.1182G>C
n.473G>C
c.2086G>C (p.Asp696His)
c.*1067G>C (n.*1067G>C)
c.*1086G>C (n.*1086G>C)
c.1357G>C
c.2011G>C (p.Asp671His)
c.*1044G>C (n.*1044G>C)
c.931G>C (p.Asp311His)
c.643G>C (p.Asp215His)
c.2167G>C (p.Asp723His)
c.1969G>C (p.Asp657His)
c.1123G>C (p.Asp375His)
c.1078G>C (p.Asp360His)
c.910G>C (p.Asp304His)
c.784G>C (p.Asp262His)
12g.32625693G>TCA384367451FGD4c.1675G>T (p.Asp559Tyr)
c.1930G>T (p.Asp644Tyr)
c.1396G>T (p.Asp466Tyr)
c.487G>T (p.Asp163Tyr)
n.1182G>T
n.473G>T
c.2086G>T (p.Asp696Tyr)
c.*1067G>T (n.*1067G>T)
c.*1086G>T (n.*1086G>T)
c.1357G>T
c.2011G>T (p.Asp671Tyr)
c.*1044G>T (n.*1044G>T)
c.931G>T (p.Asp311Tyr)
c.643G>T (p.Asp215Tyr)
c.2167G>T (p.Asp723Tyr)
c.1969G>T (p.Asp657Tyr)
c.1123G>T (p.Asp375Tyr)
c.1078G>T (p.Asp360Tyr)
c.910G>T (p.Asp304Tyr)
c.784G>T (p.Asp262Tyr)
12g.32625694A>CCA384367455FGD4c.1676A>C (p.Asp559Ala)
c.1931A>C (p.Asp644Ala)
c.1397A>C (p.Asp466Ala)
c.488A>C (p.Asp163Ala)
n.1183A>C
n.474A>C
c.2087A>C (p.Asp696Ala)
c.*1068A>C (n.*1068A>C)
c.*1087A>C (n.*1087A>C)
c.1358A>C
c.2012A>C (p.Asp671Ala)
c.*1045A>C (n.*1045A>C)
c.932A>C (p.Asp311Ala)
c.644A>C (p.Asp215Ala)
c.2168A>C (p.Asp723Ala)
c.1970A>C (p.Asp657Ala)
c.1124A>C (p.Asp375Ala)
c.1079A>C (p.Asp360Ala)
c.911A>C (p.Asp304Ala)
c.785A>C (p.Asp262Ala)
12g.32625694A>GCA384367456FGD4c.1676A>G (p.Asp559Gly)
c.1931A>G (p.Asp644Gly)
c.1397A>G (p.Asp466Gly)
c.488A>G (p.Asp163Gly)
n.1183A>G
n.474A>G
c.2087A>G (p.Asp696Gly)
c.*1068A>G (n.*1068A>G)
c.*1087A>G (n.*1087A>G)
c.1358A>G
c.2012A>G (p.Asp671Gly)
c.*1045A>G (n.*1045A>G)
c.932A>G (p.Asp311Gly)
c.644A>G (p.Asp215Gly)
c.2168A>G (p.Asp723Gly)
c.1970A>G (p.Asp657Gly)
c.1124A>G (p.Asp375Gly)
c.1079A>G (p.Asp360Gly)
c.911A>G (p.Asp304Gly)
c.785A>G (p.Asp262Gly)
12g.32625694A>TCA384367457FGD4c.1676A>T (p.Asp559Val)
c.1931A>T (p.Asp644Val)
c.1397A>T (p.Asp466Val)
c.488A>T (p.Asp163Val)
n.1183A>T
n.474A>T
c.2087A>T (p.Asp696Val)
c.*1068A>T (n.*1068A>T)
c.*1087A>T (n.*1087A>T)
c.1358A>T
c.2012A>T (p.Asp671Val)
c.*1045A>T (n.*1045A>T)
c.932A>T (p.Asp311Val)
c.644A>T (p.Asp215Val)
c.2168A>T (p.Asp723Val)
c.1970A>T (p.Asp657Val)
c.1124A>T (p.Asp375Val)
c.1079A>T (p.Asp360Val)
c.911A>T (p.Asp304Val)
c.785A>T (p.Asp262Val)
 gnomAD v4
12g.32625695T>ACA384367461FGD4c.1677T>A (p.Asp559Glu)
c.1932T>A (p.Asp644Glu)
c.1398T>A (p.Asp466Glu)
c.489T>A (p.Asp163Glu)
n.1184T>A
n.475T>A
c.2088T>A (p.Asp696Glu)
c.*1069T>A (n.*1069T>A)
c.*1088T>A (n.*1088T>A)
c.1359T>A
c.2013T>A (p.Asp671Glu)
c.*1046T>A (n.*1046T>A)
c.933T>A (p.Asp311Glu)
c.645T>A (p.Asp215Glu)
c.2169T>A (p.Asp723Glu)
c.1971T>A (p.Asp657Glu)
c.1125T>A (p.Asp375Glu)
c.1080T>A (p.Asp360Glu)
c.912T>A (p.Asp304Glu)
c.786T>A (p.Asp262Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.32625695T>CCA479169261FGD4c.1677T>C (p.Asp559=)
c.1932T>C (p.Asp644=)
c.1398T>C (p.Asp466=)
c.489T>C (p.Asp163=)
n.1184T>C
n.475T>C
c.2088T>C (p.Asp696=)
c.*1069T>C (n.*1069T>C)
c.*1088T>C (n.*1088T>C)
c.1359T>C
c.2013T>C (p.Asp671=)
c.*1046T>C (n.*1046T>C)
c.933T>C (p.Asp311=)
c.645T>C (p.Asp215=)
c.2169T>C (p.Asp723=)
c.1971T>C (p.Asp657=)
c.1125T>C (p.Asp375=)
c.1080T>C (p.Asp360=)
c.912T>C (p.Asp304=)
c.786T>C (p.Asp262=)
 dbSNP gnomAD v2 gnomAD v4
12g.32625695T>GCA384367459FGD4c.1677T>G (p.Asp559Glu)
c.1932T>G (p.Asp644Glu)
c.1398T>G (p.Asp466Glu)
c.489T>G (p.Asp163Glu)
n.1184T>G
n.475T>G
c.2088T>G (p.Asp696Glu)
c.*1069T>G (n.*1069T>G)
c.*1088T>G (n.*1088T>G)
c.1359T>G
c.2013T>G (p.Asp671Glu)
c.*1046T>G (n.*1046T>G)
c.933T>G (p.Asp311Glu)
c.645T>G (p.Asp215Glu)
c.2169T>G (p.Asp723Glu)
c.1971T>G (p.Asp657Glu)
c.1125T>G (p.Asp375Glu)
c.1080T>G (p.Asp360Glu)
c.912T>G (p.Asp304Glu)
c.786T>G (p.Asp262Glu)
12g.32625695T=CA2026243875FGD4c.1677T= (p.Asp559=)
c.1932T= (p.Asp644=)
c.1398T= (p.Asp466=)
c.489T= (p.Asp163=)
n.1184T=
n.475T=
c.2088T= (p.Asp696=)
c.*1069T= (n.*1069T=)
c.*1088T= (n.*1088T=)
c.1359T=
c.2013T= (p.Asp671=)
c.*1046T= (n.*1046T=)
c.933T= (p.Asp311=)
c.645T= (p.Asp215=)
c.2169T= (p.Asp723=)
c.1971T= (p.Asp657=)
c.1125T= (p.Asp375=)
c.1080T= (p.Asp360=)
c.912T= (p.Asp304=)
c.786T= (p.Asp262=)
12g.32625696A>CCA384367465FGD4c.1678A>C (p.Asn560His)
c.1933A>C (p.Asn645His)
c.1399A>C (p.Asn467His)
c.490A>C (p.Asn164His)
n.1185A>C
n.476A>C
c.2089A>C (p.Asn697His)
c.*1070A>C (n.*1070A>C)
c.*1089A>C (n.*1089A>C)
c.1360A>C
c.2014A>C (p.Asn672His)
c.*1047A>C (n.*1047A>C)
c.934A>C (p.Asn312His)
c.646A>C (p.Asn216His)
c.2170A>C (p.Asn724His)
c.1972A>C (p.Asn658His)
c.1126A>C (p.Asn376His)
c.1081A>C (p.Asn361His)
c.913A>C (p.Asn305His)
c.787A>C (p.Asn263His)
12g.32625696A>GCA384367469FGD4c.1678A>G (p.Asn560Asp)
c.1933A>G (p.Asn645Asp)
c.1399A>G (p.Asn467Asp)
c.490A>G (p.Asn164Asp)
n.1185A>G
n.476A>G
c.2089A>G (p.Asn697Asp)
c.*1070A>G (n.*1070A>G)
c.*1089A>G (n.*1089A>G)
c.1360A>G
c.2014A>G (p.Asn672Asp)
c.*1047A>G (n.*1047A>G)
c.934A>G (p.Asn312Asp)
c.646A>G (p.Asn216Asp)
c.2170A>G (p.Asn724Asp)
c.1972A>G (p.Asn658Asp)
c.1126A>G (p.Asn376Asp)
c.1081A>G (p.Asn361Asp)
c.913A>G (p.Asn305Asp)
c.787A>G (p.Asn263Asp)
12g.32625696A>TCA384367472FGD4c.1678A>T (p.Asn560Tyr)
c.1933A>T (p.Asn645Tyr)
c.1399A>T (p.Asn467Tyr)
c.490A>T (p.Asn164Tyr)
n.1185A>T
n.476A>T
c.2089A>T (p.Asn697Tyr)
c.*1070A>T (n.*1070A>T)
c.*1089A>T (n.*1089A>T)
c.1360A>T
c.2014A>T (p.Asn672Tyr)
c.*1047A>T (n.*1047A>T)
c.934A>T (p.Asn312Tyr)
c.646A>T (p.Asn216Tyr)
c.2170A>T (p.Asn724Tyr)
c.1972A>T (p.Asn658Tyr)
c.1126A>T (p.Asn376Tyr)
c.1081A>T (p.Asn361Tyr)
c.913A>T (p.Asn305Tyr)
c.787A>T (p.Asn263Tyr)
12g.32625697A>CCA384367480FGD4c.1679A>C (p.Asn560Thr)
c.1934A>C (p.Asn645Thr)
c.1400A>C (p.Asn467Thr)
c.491A>C (p.Asn164Thr)
n.1186A>C
n.477A>C
c.2090A>C (p.Asn697Thr)
c.*1071A>C (n.*1071A>C)
c.*1090A>C (n.*1090A>C)
c.1361A>C
c.2015A>C (p.Asn672Thr)
c.*1048A>C (n.*1048A>C)
c.935A>C (p.Asn312Thr)
c.647A>C (p.Asn216Thr)
c.2171A>C (p.Asn724Thr)
c.1973A>C (p.Asn658Thr)
c.1127A>C (p.Asn376Thr)
c.1082A>C (p.Asn361Thr)
c.914A>C (p.Asn305Thr)
c.788A>C (p.Asn263Thr)
12g.32625697A>GCA384367483FGD4c.1679A>G (p.Asn560Ser)
c.1934A>G (p.Asn645Ser)
c.1400A>G (p.Asn467Ser)
c.491A>G (p.Asn164Ser)
n.1186A>G
n.477A>G
c.2090A>G (p.Asn697Ser)
c.*1071A>G (n.*1071A>G)
c.*1090A>G (n.*1090A>G)
c.1361A>G
c.2015A>G (p.Asn672Ser)
c.*1048A>G (n.*1048A>G)
c.935A>G (p.Asn312Ser)
c.647A>G (p.Asn216Ser)
c.2171A>G (p.Asn724Ser)
c.1973A>G (p.Asn658Ser)
c.1127A>G (p.Asn376Ser)
c.1082A>G (p.Asn361Ser)
c.914A>G (p.Asn305Ser)
c.788A>G (p.Asn263Ser)
12g.32625697A>TCA384367488FGD4c.1679A>T (p.Asn560Ile)
c.1934A>T (p.Asn645Ile)
c.1400A>T (p.Asn467Ile)
c.491A>T (p.Asn164Ile)
n.1186A>T
n.477A>T
c.2090A>T (p.Asn697Ile)
c.*1071A>T (n.*1071A>T)
c.*1090A>T (n.*1090A>T)
c.1361A>T
c.2015A>T (p.Asn672Ile)
c.*1048A>T (n.*1048A>T)
c.935A>T (p.Asn312Ile)
c.647A>T (p.Asn216Ile)
c.2171A>T (p.Asn724Ile)
c.1973A>T (p.Asn658Ile)
c.1127A>T (p.Asn376Ile)
c.1082A>T (p.Asn361Ile)
c.914A>T (p.Asn305Ile)
c.788A>T (p.Asn263Ile)
12g.32625698T>ACA384367492FGD4c.1680T>A (p.Asn560Lys)
c.1935T>A (p.Asn645Lys)
c.1401T>A (p.Asn467Lys)
c.492T>A (p.Asn164Lys)
n.1187T>A
n.478T>A
c.2091T>A (p.Asn697Lys)
c.*1072T>A (n.*1072T>A)
c.*1091T>A (n.*1091T>A)
c.1362T>A
c.2016T>A (p.Asn672Lys)
c.*1049T>A (n.*1049T>A)
c.936T>A (p.Asn312Lys)
c.648T>A (p.Asn216Lys)
c.2172T>A (p.Asn724Lys)
c.1974T>A (p.Asn658Lys)
c.1128T>A (p.Asn376Lys)
c.1083T>A (p.Asn361Lys)
c.915T>A (p.Asn305Lys)
c.789T>A (p.Asn263Lys)
12g.32625698T>CCA6506986FGD4c.1680T>C (p.Asn560=)
c.1935T>C (p.Asn645=)
c.1401T>C (p.Asn467=)
c.492T>C (p.Asn164=)
n.1187T>C
n.478T>C
c.2091T>C (p.Asn697=)
c.*1072T>C (n.*1072T>C)
c.*1091T>C (n.*1091T>C)
c.1362T>C
c.2016T>C (p.Asn672=)
c.*1049T>C (n.*1049T>C)
c.936T>C (p.Asn312=)
c.648T>C (p.Asn216=)
c.2172T>C (p.Asn724=)
c.1974T>C (p.Asn658=)
c.1128T>C (p.Asn376=)
c.1083T>C (p.Asn361=)
c.915T>C (p.Asn305=)
c.789T>C (p.Asn263=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.32625698T>GCA384367498FGD4c.1680T>G (p.Asn560Lys)
c.1935T>G (p.Asn645Lys)
c.1401T>G (p.Asn467Lys)
c.492T>G (p.Asn164Lys)
n.1187T>G
n.478T>G
c.2091T>G (p.Asn697Lys)
c.*1072T>G (n.*1072T>G)
c.*1091T>G (n.*1091T>G)
c.1362T>G
c.2016T>G (p.Asn672Lys)
c.*1049T>G (n.*1049T>G)
c.936T>G (p.Asn312Lys)
c.648T>G (p.Asn216Lys)
c.2172T>G (p.Asn724Lys)
c.1974T>G (p.Asn658Lys)
c.1128T>G (p.Asn376Lys)
c.1083T>G (p.Asn361Lys)
c.915T>G (p.Asn305Lys)
c.789T>G (p.Asn263Lys)
12g.32625698T=CA2026243881FGD4c.1680T= (p.Asn560=)
c.1935T= (p.Asn645=)
c.1401T= (p.Asn467=)
c.492T= (p.Asn164=)
n.1187T=
n.478T=
c.2091T= (p.Asn697=)
c.*1072T= (n.*1072T=)
c.*1091T= (n.*1091T=)
c.1362T=
c.2016T= (p.Asn672=)
c.*1049T= (n.*1049T=)
c.936T= (p.Asn312=)
c.648T= (p.Asn216=)
c.2172T= (p.Asn724=)
c.1974T= (p.Asn658=)
c.1128T= (p.Asn376=)
c.1083T= (p.Asn361=)
c.915T= (p.Asn305=)
c.789T= (p.Asn263=)
12g.32625699G>ACA384367503FGD4c.1681G>A (p.Glu561Lys)
c.1936G>A (p.Glu646Lys)
c.1402G>A (p.Glu468Lys)
c.493G>A (p.Glu165Lys)
n.1188G>A
n.479G>A
c.2092G>A (p.Glu698Lys)
c.*1073G>A (n.*1073G>A)
c.*1092G>A (n.*1092G>A)
c.1363G>A
c.2017G>A (p.Glu673Lys)
c.*1050G>A (n.*1050G>A)
c.937G>A (p.Glu313Lys)
c.649G>A (p.Glu217Lys)
c.2173G>A (p.Glu725Lys)
c.1975G>A (p.Glu659Lys)
c.1129G>A (p.Glu377Lys)
c.1084G>A (p.Glu362Lys)
c.916G>A (p.Glu306Lys)
c.790G>A (p.Glu264Lys)
12g.32625699G>CCA384367506FGD4c.1681G>C (p.Glu561Gln)
c.1936G>C (p.Glu646Gln)
c.1402G>C (p.Glu468Gln)
c.493G>C (p.Glu165Gln)
n.1188G>C
n.479G>C
c.2092G>C (p.Glu698Gln)
c.*1073G>C (n.*1073G>C)
c.*1092G>C (n.*1092G>C)
c.1363G>C
c.2017G>C (p.Glu673Gln)
c.*1050G>C (n.*1050G>C)
c.937G>C (p.Glu313Gln)
c.649G>C (p.Glu217Gln)
c.2173G>C (p.Glu725Gln)
c.1975G>C (p.Glu659Gln)
c.1129G>C (p.Glu377Gln)
c.1084G>C (p.Glu362Gln)
c.916G>C (p.Glu306Gln)
c.790G>C (p.Glu264Gln)
12g.32625699G>TCA384367509FGD4c.1681G>T (p.Glu561Ter)
c.1936G>T (p.Glu646Ter)
c.1402G>T (p.Glu468Ter)
c.493G>T (p.Glu165Ter)
n.1188G>T
n.479G>T
c.2092G>T (p.Glu698Ter)
c.*1073G>T (n.*1073G>T)
c.*1092G>T (n.*1092G>T)
c.1363G>T
c.2017G>T (p.Glu673Ter)
c.*1050G>T (n.*1050G>T)
c.937G>T (p.Glu313Ter)
c.649G>T (p.Glu217Ter)
c.2173G>T (p.Glu725Ter)
c.1975G>T (p.Glu659Ter)
c.1129G>T (p.Glu377Ter)
c.1084G>T (p.Glu362Ter)
c.916G>T (p.Glu306Ter)
c.790G>T (p.Glu264Ter)
12g.32625699_32625700delinsGACA2026243890FGD4c.1681_1682delinsGA (p.Glu561=)
c.1936_1937delinsGA (p.Glu646=)
c.1402_1403delinsGA (p.Glu468=)
c.493_494delinsGA (p.Glu165=)
n.1188_1189delinsGA
n.479_480delinsGA
c.2092_2093delinsGA (p.Glu698=)
c.*1073_*1074delinsGA (n.*1073_*1074delinsGA)
c.*1092_*1093delinsGA (n.*1092_*1093delinsGA)
c.1363_1364delinsGA
c.2017_2018delinsGA (p.Glu673=)
c.*1050_*1051delinsGA (n.*1050_*1051delinsGA)
c.937_938delinsGA (p.Glu313=)
c.649_650delinsGA (p.Glu217=)
c.2173_2174delinsGA (p.Glu725=)
c.1975_1976delinsGA (p.Glu659=)
c.1129_1130delinsGA (p.Glu377=)
c.1084_1085delinsGA (p.Glu362=)
c.916_917delinsGA (p.Glu306=)
c.790_791delinsGA (p.Glu264=)
12g.32625700A=CA2026243892FGD4c.1682A= (p.Glu561=)
c.1937A= (p.Glu646=)
c.1403A= (p.Glu468=)
c.494A= (p.Glu165=)
n.1189A=
n.480A=
c.2093A= (p.Glu698=)
c.*1074A= (n.*1074A=)
c.*1093A= (n.*1093A=)
c.1364A=
c.2018A= (p.Glu673=)
c.*1051A= (n.*1051A=)
c.938A= (p.Glu313=)
c.650A= (p.Glu217=)
c.2174A= (p.Glu725=)
c.1976A= (p.Glu659=)
c.1130A= (p.Glu377=)
c.1085A= (p.Glu362=)
c.917A= (p.Glu306=)
c.791A= (p.Glu264=)
12g.32625700A>CCA384367517FGD4c.1682A>C (p.Glu561Ala)
c.1937A>C (p.Glu646Ala)
c.1403A>C (p.Glu468Ala)
c.494A>C (p.Glu165Ala)
n.1189A>C
n.480A>C
c.2093A>C (p.Glu698Ala)
c.*1074A>C (n.*1074A>C)
c.*1093A>C (n.*1093A>C)
c.1364A>C
c.2018A>C (p.Glu673Ala)
c.*1051A>C (n.*1051A>C)
c.938A>C (p.Glu313Ala)
c.650A>C (p.Glu217Ala)
c.2174A>C (p.Glu725Ala)
c.1976A>C (p.Glu659Ala)
c.1130A>C (p.Glu377Ala)
c.1085A>C (p.Glu362Ala)
c.917A>C (p.Glu306Ala)
c.791A>C (p.Glu264Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.32625700A>GCA384367516FGD4c.1682A>G (p.Glu561Gly)
c.1937A>G (p.Glu646Gly)
c.1403A>G (p.Glu468Gly)
c.494A>G (p.Glu165Gly)
n.1189A>G
n.480A>G
c.2093A>G (p.Glu698Gly)
c.*1074A>G (n.*1074A>G)
c.*1093A>G (n.*1093A>G)
c.1364A>G
c.2018A>G (p.Glu673Gly)
c.*1051A>G (n.*1051A>G)
c.938A>G (p.Glu313Gly)
c.650A>G (p.Glu217Gly)
c.2174A>G (p.Glu725Gly)
c.1976A>G (p.Glu659Gly)
c.1130A>G (p.Glu377Gly)
c.1085A>G (p.Glu362Gly)
c.917A>G (p.Glu306Gly)
c.791A>G (p.Glu264Gly)
12g.32625700A>TCA384367513FGD4c.1682A>T (p.Glu561Val)
c.1937A>T (p.Glu646Val)
c.1403A>T (p.Glu468Val)
c.494A>T (p.Glu165Val)
n.1189A>T
n.480A>T
c.2093A>T (p.Glu698Val)
c.*1074A>T (n.*1074A>T)
c.*1093A>T (n.*1093A>T)
c.1364A>T
c.2018A>T (p.Glu673Val)
c.*1051A>T (n.*1051A>T)
c.938A>T (p.Glu313Val)
c.650A>T (p.Glu217Val)
c.2174A>T (p.Glu725Val)
c.1976A>T (p.Glu659Val)
c.1130A>T (p.Glu377Val)
c.1085A>T (p.Glu362Val)
c.917A>T (p.Glu306Val)
c.791A>T (p.Glu264Val)
12g.32625701delCA2026243891FGD4c.1683del (p.Val562Ter)
c.1938del (p.Val647Ter)
c.1404del (p.Val469Ter)
c.495del (p.Val166Ter)
n.1190del
n.481del
c.2094del (p.Val699Ter)
c.*1075del (n.*1075del)
c.*1094del (n.*1094del)
c.1365del
c.2019del (p.Val674Ter)
c.*1052del (n.*1052del)
c.939del (p.Val314Ter)
c.651del (p.Val218Ter)
c.2175del (p.Val726Ter)
c.1977del (p.Val660Ter)
c.1131del (p.Val378Ter)
c.1086del (p.Val363Ter)
c.918del (p.Val307Ter)
c.792del (p.Val265Ter)
 dbSNP
12g.32625701A>CCA384367526FGD4c.1683A>C (p.Glu561Asp)
c.1938A>C (p.Glu646Asp)
c.1404A>C (p.Glu468Asp)
c.495A>C (p.Glu165Asp)
n.1190A>C
n.481A>C
c.2094A>C (p.Glu698Asp)
c.*1075A>C (n.*1075A>C)
c.*1094A>C (n.*1094A>C)
c.1365A>C
c.2019A>C (p.Glu673Asp)
c.*1052A>C (n.*1052A>C)
c.939A>C (p.Glu313Asp)
c.651A>C (p.Glu217Asp)
c.2175A>C (p.Glu725Asp)
c.1977A>C (p.Glu659Asp)
c.1131A>C (p.Glu377Asp)
c.1086A>C (p.Glu362Asp)
c.918A>C (p.Glu306Asp)
c.792A>C (p.Glu264Asp)
 COSMIC COSMIC
12g.32625701A>GCA479169265FGD4c.1683A>G (p.Glu561=)
c.1938A>G (p.Glu646=)
c.1404A>G (p.Glu468=)
c.495A>G (p.Glu165=)
n.1190A>G
n.481A>G
c.2094A>G (p.Glu698=)
c.*1075A>G (n.*1075A>G)
c.*1094A>G (n.*1094A>G)
c.1365A>G
c.2019A>G (p.Glu673=)
c.*1052A>G (n.*1052A>G)
c.939A>G (p.Glu313=)
c.651A>G (p.Glu217=)
c.2175A>G (p.Glu725=)
c.1977A>G (p.Glu659=)
c.1131A>G (p.Glu377=)
c.1086A>G (p.Glu362=)
c.918A>G (p.Glu306=)
c.792A>G (p.Glu264=)
12g.32625701A>TCA384367530FGD4c.1683A>T (p.Glu561Asp)
c.1938A>T (p.Glu646Asp)
c.1404A>T (p.Glu468Asp)
c.495A>T (p.Glu165Asp)
n.1190A>T
n.481A>T
c.2094A>T (p.Glu698Asp)
c.*1075A>T (n.*1075A>T)
c.*1094A>T (n.*1094A>T)
c.1365A>T
c.2019A>T (p.Glu673Asp)
c.*1052A>T (n.*1052A>T)
c.939A>T (p.Glu313Asp)
c.651A>T (p.Glu217Asp)
c.2175A>T (p.Glu725Asp)
c.1977A>T (p.Glu659Asp)
c.1131A>T (p.Glu377Asp)
c.1086A>T (p.Glu362Asp)
c.918A>T (p.Glu306Asp)
c.792A>T (p.Glu264Asp)
12g.32625701_32625702delinsAGCA2026243897FGD4c.1683_1684delinsAG (p.Glu561=)
c.1938_1939delinsAG (p.Glu646=)
c.1404_1405delinsAG (p.Glu468=)
c.495_496delinsAG (p.Glu165=)
n.1190_1191delinsAG
n.481_482delinsAG
c.2094_2095delinsAG (p.Glu698=)
c.*1075_*1076delinsAG (n.*1075_*1076delinsAG)
c.*1094_*1095delinsAG (n.*1094_*1095delinsAG)
c.1365_1366delinsAG
c.2019_2020delinsAG (p.Glu673=)
c.*1052_*1053delinsAG (n.*1052_*1053delinsAG)
c.939_940delinsAG (p.Glu313=)
c.651_652delinsAG (p.Glu217=)
c.2175_2176delinsAG (p.Glu725=)
c.1977_1978delinsAG (p.Glu659=)
c.1131_1132delinsAG (p.Glu377=)
c.1086_1087delinsAG (p.Glu362=)
c.918_919delinsAG (p.Glu306=)
c.792_793delinsAG (p.Glu264=)
12g.32625702delCA913705451FGD4c.1684del (p.Val562Ter)
c.1939del (p.Val647Ter)
c.1405del (p.Val469Ter)
c.496del (p.Val166Ter)
n.1191del
n.482del
c.2095del (p.Val699Ter)
c.*1076del (n.*1076del)
c.*1095del (n.*1095del)
c.1366del
c.2020del (p.Val674Ter)
c.*1053del (n.*1053del)
c.940del (p.Val314Ter)
c.652del (p.Val218Ter)
c.2176del (p.Val726Ter)
c.1978del (p.Val660Ter)
c.1132del (p.Val378Ter)
c.1087del (p.Val363Ter)
c.919del (p.Val307Ter)
c.793del (p.Val265Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32625702G>ACA384367536FGD4c.1684G>A (p.Val562Met)
c.1939G>A (p.Val647Met)
c.1405G>A (p.Val469Met)
c.496G>A (p.Val166Met)
n.1191G>A
n.482G>A
c.2095G>A (p.Val699Met)
c.*1076G>A (n.*1076G>A)
c.*1095G>A (n.*1095G>A)
c.1366G>A
c.2020G>A (p.Val674Met)
c.*1053G>A (n.*1053G>A)
c.940G>A (p.Val314Met)
c.652G>A (p.Val218Met)
c.2176G>A (p.Val726Met)
c.1978G>A (p.Val660Met)
c.1132G>A (p.Val378Met)
c.1087G>A (p.Val363Met)
c.919G>A (p.Val307Met)
c.793G>A (p.Val265Met)
12g.32625702G>CCA384367543FGD4c.1684G>C (p.Val562Leu)
c.1939G>C (p.Val647Leu)
c.1405G>C (p.Val469Leu)
c.496G>C (p.Val166Leu)
n.1191G>C
n.482G>C
c.2095G>C (p.Val699Leu)
c.*1076G>C (n.*1076G>C)
c.*1095G>C (n.*1095G>C)
c.1366G>C
c.2020G>C (p.Val674Leu)
c.*1053G>C (n.*1053G>C)
c.940G>C (p.Val314Leu)
c.652G>C (p.Val218Leu)
c.2176G>C (p.Val726Leu)
c.1978G>C (p.Val660Leu)
c.1132G>C (p.Val378Leu)
c.1087G>C (p.Val363Leu)
c.919G>C (p.Val307Leu)
c.793G>C (p.Val265Leu)
12g.32625702G>TCA384367540FGD4c.1684G>T (p.Val562Leu)
c.1939G>T (p.Val647Leu)
c.1405G>T (p.Val469Leu)
c.496G>T (p.Val166Leu)
n.1191G>T
n.482G>T
c.2095G>T (p.Val699Leu)
c.*1076G>T (n.*1076G>T)
c.*1095G>T (n.*1095G>T)
c.1366G>T
c.2020G>T (p.Val674Leu)
c.*1053G>T (n.*1053G>T)
c.940G>T (p.Val314Leu)
c.652G>T (p.Val218Leu)
c.2176G>T (p.Val726Leu)
c.1978G>T (p.Val660Leu)
c.1132G>T (p.Val378Leu)
c.1087G>T (p.Val363Leu)
c.919G>T (p.Val307Leu)
c.793G>T (p.Val265Leu)
12g.32625703T>ACA384367548FGD4c.1685T>A (p.Val562Glu)
c.1940T>A (p.Val647Glu)
c.1406T>A (p.Val469Glu)
c.497T>A (p.Val166Glu)
n.1192T>A
n.483T>A
c.2096T>A (p.Val699Glu)
c.*1077T>A (n.*1077T>A)
c.*1096T>A (n.*1096T>A)
c.1367T>A
c.2021T>A (p.Val674Glu)
c.*1054T>A (n.*1054T>A)
c.941T>A (p.Val314Glu)
c.653T>A (p.Val218Glu)
c.2177T>A (p.Val726Glu)
c.1979T>A (p.Val660Glu)
c.1133T>A (p.Val378Glu)
c.1088T>A (p.Val363Glu)
c.920T>A (p.Val307Glu)
c.794T>A (p.Val265Glu)
12g.32625703T>CCA384367556FGD4c.1685T>C (p.Val562Ala)
c.1940T>C (p.Val647Ala)
c.1406T>C (p.Val469Ala)
c.497T>C (p.Val166Ala)
n.1192T>C
n.483T>C
c.2096T>C (p.Val699Ala)
c.*1077T>C (n.*1077T>C)
c.*1096T>C (n.*1096T>C)
c.1367T>C
c.2021T>C (p.Val674Ala)
c.*1054T>C (n.*1054T>C)
c.941T>C (p.Val314Ala)
c.653T>C (p.Val218Ala)
c.2177T>C (p.Val726Ala)
c.1979T>C (p.Val660Ala)
c.1133T>C (p.Val378Ala)
c.1088T>C (p.Val363Ala)
c.920T>C (p.Val307Ala)
c.794T>C (p.Val265Ala)
12g.32625703T>GCA384367559FGD4c.1685T>G (p.Val562Gly)
c.1940T>G (p.Val647Gly)
c.1406T>G (p.Val469Gly)
c.497T>G (p.Val166Gly)
n.1192T>G
n.483T>G
c.2096T>G (p.Val699Gly)
c.*1077T>G (n.*1077T>G)
c.*1096T>G (n.*1096T>G)
c.1367T>G
c.2021T>G (p.Val674Gly)
c.*1054T>G (n.*1054T>G)
c.941T>G (p.Val314Gly)
c.653T>G (p.Val218Gly)
c.2177T>G (p.Val726Gly)
c.1979T>G (p.Val660Gly)
c.1133T>G (p.Val378Gly)
c.1088T>G (p.Val363Gly)
c.920T>G (p.Val307Gly)
c.794T>G (p.Val265Gly)
12g.32625704G>ACA479169267FGD4c.1686G>A (p.Val562=)
c.1941G>A (p.Val647=)
c.1407G>A (p.Val469=)
c.498G>A (p.Val166=)
n.1193G>A
n.484G>A
c.2097G>A (p.Val699=)
c.*1078G>A (n.*1078G>A)
c.*1097G>A (n.*1097G>A)
c.1368G>A
c.2022G>A (p.Val674=)
c.*1055G>A (n.*1055G>A)
c.942G>A (p.Val314=)
c.654G>A (p.Val218=)
c.2178G>A (p.Val726=)
c.1980G>A (p.Val660=)
c.1134G>A (p.Val378=)
c.1089G>A (p.Val363=)
c.921G>A (p.Val307=)
c.795G>A (p.Val265=)
 gnomAD v4
12g.32625704G>CCA479169268FGD4c.1686G>C (p.Val562=)
c.1941G>C (p.Val647=)
c.1407G>C (p.Val469=)
c.498G>C (p.Val166=)
n.1193G>C
n.484G>C
c.2097G>C (p.Val699=)
c.*1078G>C (n.*1078G>C)
c.*1097G>C (n.*1097G>C)
c.1368G>C
c.2022G>C (p.Val674=)
c.*1055G>C (n.*1055G>C)
c.942G>C (p.Val314=)
c.654G>C (p.Val218=)
c.2178G>C (p.Val726=)
c.1980G>C (p.Val660=)
c.1134G>C (p.Val378=)
c.1089G>C (p.Val363=)
c.921G>C (p.Val307=)
c.795G>C (p.Val265=)
 dbSNP gnomAD v2 gnomAD v4
12g.32625704G=CA2026243902FGD4c.1686G= (p.Val562=)
c.1941G= (p.Val647=)
c.1407G= (p.Val469=)
c.498G= (p.Val166=)
n.1193G=
n.484G=
c.2097G= (p.Val699=)
c.*1078G= (n.*1078G=)
c.*1097G= (n.*1097G=)
c.1368G=
c.2022G= (p.Val674=)
c.*1055G= (n.*1055G=)
c.942G= (p.Val314=)
c.654G= (p.Val218=)
c.2178G= (p.Val726=)
c.1980G= (p.Val660=)
c.1134G= (p.Val378=)
c.1089G= (p.Val363=)
c.921G= (p.Val307=)
c.795G= (p.Val265=)
12g.32625704G>TCA479169270FGD4c.1686G>T (p.Val562=)
c.1941G>T (p.Val647=)
c.1407G>T (p.Val469=)
c.498G>T (p.Val166=)
n.1193G>T
n.484G>T
c.2097G>T (p.Val699=)
c.*1078G>T (n.*1078G>T)
c.*1097G>T (n.*1097G>T)
c.1368G>T
c.2022G>T (p.Val674=)
c.*1055G>T (n.*1055G>T)
c.942G>T (p.Val314=)
c.654G>T (p.Val218=)
c.2178G>T (p.Val726=)
c.1980G>T (p.Val660=)
c.1134G>T (p.Val378=)
c.1089G>T (p.Val363=)
c.921G>T (p.Val307=)
c.795G>T (p.Val265=)
12g.32625705A>CCA384367562FGD4c.1687A>C (p.Thr563Pro)
c.1942A>C (p.Thr648Pro)
c.1408A>C (p.Thr470Pro)
c.499A>C (p.Thr167Pro)
n.1194A>C
n.485A>C
c.2098A>C (p.Thr700Pro)
c.*1079A>C (n.*1079A>C)
c.*1098A>C (n.*1098A>C)
c.1369A>C
c.2023A>C (p.Thr675Pro)
c.*1056A>C (n.*1056A>C)
c.943A>C (p.Thr315Pro)
c.655A>C (p.Thr219Pro)
c.2179A>C (p.Thr727Pro)
c.1981A>C (p.Thr661Pro)
c.1135A>C (p.Thr379Pro)
c.1090A>C (p.Thr364Pro)
c.922A>C (p.Thr308Pro)
c.796A>C (p.Thr266Pro)
12g.32625705A>GCA384367563FGD4c.1687A>G (p.Thr563Ala)
c.1942A>G (p.Thr648Ala)
c.1408A>G (p.Thr470Ala)
c.499A>G (p.Thr167Ala)
n.1194A>G
n.485A>G
c.2098A>G (p.Thr700Ala)
c.*1079A>G (n.*1079A>G)
c.*1098A>G (n.*1098A>G)
c.1369A>G
c.2023A>G (p.Thr675Ala)
c.*1056A>G (n.*1056A>G)
c.943A>G (p.Thr315Ala)
c.655A>G (p.Thr219Ala)
c.2179A>G (p.Thr727Ala)
c.1981A>G (p.Thr661Ala)
c.1135A>G (p.Thr379Ala)
c.1090A>G (p.Thr364Ala)
c.922A>G (p.Thr308Ala)
c.796A>G (p.Thr266Ala)
12g.32625705A>TCA384367564FGD4c.1687A>T (p.Thr563Ser)
c.1942A>T (p.Thr648Ser)
c.1408A>T (p.Thr470Ser)
c.499A>T (p.Thr167Ser)
n.1194A>T
n.485A>T
c.2098A>T (p.Thr700Ser)
c.*1079A>T (n.*1079A>T)
c.*1098A>T (n.*1098A>T)
c.1369A>T
c.2023A>T (p.Thr675Ser)
c.*1056A>T (n.*1056A>T)
c.943A>T (p.Thr315Ser)
c.655A>T (p.Thr219Ser)
c.2179A>T (p.Thr727Ser)
c.1981A>T (p.Thr661Ser)
c.1135A>T (p.Thr379Ser)
c.1090A>T (p.Thr364Ser)
c.922A>T (p.Thr308Ser)
c.796A>T (p.Thr266Ser)
 gnomAD v4
12g.32625706C>ACA384367566FGD4c.1688C>A (p.Thr563Lys)
c.1943C>A (p.Thr648Lys)
c.1409C>A (p.Thr470Lys)
c.500C>A (p.Thr167Lys)
n.1195C>A
n.486C>A
c.2099C>A (p.Thr700Lys)
c.*1080C>A (n.*1080C>A)
c.*1099C>A (n.*1099C>A)
c.1370C>A
c.2024C>A (p.Thr675Lys)
c.*1057C>A (n.*1057C>A)
c.944C>A (p.Thr315Lys)
c.656C>A (p.Thr219Lys)
c.2180C>A (p.Thr727Lys)
c.1982C>A (p.Thr661Lys)
c.1136C>A (p.Thr379Lys)
c.1091C>A (p.Thr364Lys)
c.923C>A (p.Thr308Lys)
c.797C>A (p.Thr266Lys)
12g.32625706C=CA2026243910FGD4c.1688C= (p.Thr563=)
c.1943C= (p.Thr648=)
c.1409C= (p.Thr470=)
c.500C= (p.Thr167=)
n.1195C=
n.486C=
c.2099C= (p.Thr700=)
c.*1080C= (n.*1080C=)
c.*1099C= (n.*1099C=)
c.1370C=
c.2024C= (p.Thr675=)
c.*1057C= (n.*1057C=)
c.944C= (p.Thr315=)
c.656C= (p.Thr219=)
c.2180C= (p.Thr727=)
c.1982C= (p.Thr661=)
c.1136C= (p.Thr379=)
c.1091C= (p.Thr364=)
c.923C= (p.Thr308=)
c.797C= (p.Thr266=)
12g.32625706C>GCA384367568FGD4c.1688C>G (p.Thr563Arg)
c.1943C>G (p.Thr648Arg)
c.1409C>G (p.Thr470Arg)
c.500C>G (p.Thr167Arg)
n.1195C>G
n.486C>G
c.2099C>G (p.Thr700Arg)
c.*1080C>G (n.*1080C>G)
c.*1099C>G (n.*1099C>G)
c.1370C>G
c.2024C>G (p.Thr675Arg)
c.*1057C>G (n.*1057C>G)
c.944C>G (p.Thr315Arg)
c.656C>G (p.Thr219Arg)
c.2180C>G (p.Thr727Arg)
c.1982C>G (p.Thr661Arg)
c.1136C>G (p.Thr379Arg)
c.1091C>G (p.Thr364Arg)
c.923C>G (p.Thr308Arg)
c.797C>G (p.Thr266Arg)
12g.32625706C>TCA384367571FGD4c.1688C>T (p.Thr563Ile)
c.1943C>T (p.Thr648Ile)
c.1409C>T (p.Thr470Ile)
c.500C>T (p.Thr167Ile)
n.1195C>T
n.486C>T
c.2099C>T (p.Thr700Ile)
c.*1080C>T (n.*1080C>T)
c.*1099C>T (n.*1099C>T)
c.1370C>T
c.2024C>T (p.Thr675Ile)
c.*1057C>T (n.*1057C>T)
c.944C>T (p.Thr315Ile)
c.656C>T (p.Thr219Ile)
c.2180C>T (p.Thr727Ile)
c.1982C>T (p.Thr661Ile)
c.1136C>T (p.Thr379Ile)
c.1091C>T (p.Thr364Ile)
c.923C>T (p.Thr308Ile)
c.797C>T (p.Thr266Ile)
12g.32625707A>CCA479169273FGD4c.1689A>C (p.Thr563=)
c.1944A>C (p.Thr648=)
c.1410A>C (p.Thr470=)
c.501A>C (p.Thr167=)
n.1196A>C
n.487A>C
c.2100A>C (p.Thr700=)
c.*1081A>C (n.*1081A>C)
c.*1100A>C (n.*1100A>C)
c.1371A>C
c.2025A>C (p.Thr675=)
c.*1058A>C (n.*1058A>C)
c.945A>C (p.Thr315=)
c.657A>C (p.Thr219=)
c.2181A>C (p.Thr727=)
c.1983A>C (p.Thr661=)
c.1137A>C (p.Thr379=)
c.1092A>C (p.Thr364=)
c.924A>C (p.Thr308=)
c.798A>C (p.Thr266=)
12g.32625707A>GCA479169275FGD4c.1689A>G (p.Thr563=)
c.1944A>G (p.Thr648=)
c.1410A>G (p.Thr470=)
c.501A>G (p.Thr167=)
n.1196A>G
n.487A>G
c.2100A>G (p.Thr700=)
c.*1081A>G (n.*1081A>G)
c.*1100A>G (n.*1100A>G)
c.1371A>G
c.2025A>G (p.Thr675=)
c.*1058A>G (n.*1058A>G)
c.945A>G (p.Thr315=)
c.657A>G (p.Thr219=)
c.2181A>G (p.Thr727=)
c.1983A>G (p.Thr661=)
c.1137A>G (p.Thr379=)
c.1092A>G (p.Thr364=)
c.924A>G (p.Thr308=)
c.798A>G (p.Thr266=)
12g.32625707A>TCA479169277FGD4c.1689A>T (p.Thr563=)
c.1944A>T (p.Thr648=)
c.1410A>T (p.Thr470=)
c.501A>T (p.Thr167=)
n.1196A>T
n.487A>T
c.2100A>T (p.Thr700=)
c.*1081A>T (n.*1081A>T)
c.*1100A>T (n.*1100A>T)
c.1371A>T
c.2025A>T (p.Thr675=)
c.*1058A>T (n.*1058A>T)
c.945A>T (p.Thr315=)
c.657A>T (p.Thr219=)
c.2181A>T (p.Thr727=)
c.1983A>T (p.Thr661=)
c.1137A>T (p.Thr379=)
c.1092A>T (p.Thr364=)
c.924A>T (p.Thr308=)
c.798A>T (p.Thr266=)
12g.32625708dupCA687451947FGD4c.1690dup (p.Met564AsnfsTer6)
c.1945dup (p.Met649AsnfsTer6)
c.1411dup (p.Met471AsnfsTer6)
c.502dup (p.Met168AsnfsTer6)
n.1197dup
n.488dup
c.2101dup (p.Met701AsnfsTer6)
c.*1082dup (n.*1082dup)
c.*1101dup (n.*1101dup)
c.1372dup
c.2026dup (p.Met676AsnfsTer6)
c.*1059dup (n.*1059dup)
c.946dup (p.Met316AsnfsTer6)
c.658dup (p.Met220AsnfsTer6)
c.2182dup (p.Met728AsnfsTer6)
c.1984dup (p.Met662AsnfsTer6)
c.1138dup (p.Met380AsnfsTer6)
c.1093dup (p.Met365AsnfsTer6)
c.925dup (p.Met309AsnfsTer6)
c.799dup (p.Met267AsnfsTer6)
 dbSNP gnomAD v3 gnomAD v4
12g.32625708A>CCA384367577FGD4c.1690A>C (p.Met564Leu)
c.1945A>C (p.Met649Leu)
c.1411A>C (p.Met471Leu)
c.502A>C (p.Met168Leu)
n.1197A>C
n.488A>C
c.2101A>C (p.Met701Leu)
c.*1082A>C (n.*1082A>C)
c.*1101A>C (n.*1101A>C)
c.1372A>C
c.2026A>C (p.Met676Leu)
c.*1059A>C (n.*1059A>C)
c.946A>C (p.Met316Leu)
c.658A>C (p.Met220Leu)
c.2182A>C (p.Met728Leu)
c.1984A>C (p.Met662Leu)
c.1138A>C (p.Met380Leu)
c.1093A>C (p.Met365Leu)
c.925A>C (p.Met309Leu)
c.799A>C (p.Met267Leu)
12g.32625708A>GCA384367579FGD4c.1690A>G (p.Met564Val)
c.1945A>G (p.Met649Val)
c.1411A>G (p.Met471Val)
c.502A>G (p.Met168Val)
n.1197A>G
n.488A>G
c.2101A>G (p.Met701Val)
c.*1082A>G (n.*1082A>G)
c.*1101A>G (n.*1101A>G)
c.1372A>G
c.2026A>G (p.Met676Val)
c.*1059A>G (n.*1059A>G)
c.946A>G (p.Met316Val)
c.658A>G (p.Met220Val)
c.2182A>G (p.Met728Val)
c.1984A>G (p.Met662Val)
c.1138A>G (p.Met380Val)
c.1093A>G (p.Met365Val)
c.925A>G (p.Met309Val)
c.799A>G (p.Met267Val)
12g.32625708A>TCA384367581FGD4c.1690A>T (p.Met564Leu)
c.1945A>T (p.Met649Leu)
c.1411A>T (p.Met471Leu)
c.502A>T (p.Met168Leu)
n.1197A>T
n.488A>T
c.2101A>T (p.Met701Leu)
c.*1082A>T (n.*1082A>T)
c.*1101A>T (n.*1101A>T)
c.1372A>T
c.2026A>T (p.Met676Leu)
c.*1059A>T (n.*1059A>T)
c.946A>T (p.Met316Leu)
c.658A>T (p.Met220Leu)
c.2182A>T (p.Met728Leu)
c.1984A>T (p.Met662Leu)
c.1138A>T (p.Met380Leu)
c.1093A>T (p.Met365Leu)
c.925A>T (p.Met309Leu)
c.799A>T (p.Met267Leu)
12g.32625709T>ACA384367590FGD4c.1691T>A (p.Met564Lys)
c.1946T>A (p.Met649Lys)
c.1412T>A (p.Met471Lys)
c.503T>A (p.Met168Lys)
n.1198T>A
n.489T>A
c.2102T>A (p.Met701Lys)
c.*1083T>A (n.*1083T>A)
c.*1102T>A (n.*1102T>A)
c.1373T>A
c.2027T>A (p.Met676Lys)
c.*1060T>A (n.*1060T>A)
c.947T>A (p.Met316Lys)
c.659T>A (p.Met220Lys)
c.2183T>A (p.Met728Lys)
c.1985T>A (p.Met662Lys)
c.1139T>A (p.Met380Lys)
c.1094T>A (p.Met365Lys)
c.926T>A (p.Met309Lys)
c.800T>A (p.Met267Lys)
12g.32625709T>CCA384367584FGD4c.1691T>C (p.Met564Thr)
c.1946T>C (p.Met649Thr)
c.1412T>C (p.Met471Thr)
c.503T>C (p.Met168Thr)
n.1198T>C
n.489T>C
c.2102T>C (p.Met701Thr)
c.*1083T>C (n.*1083T>C)
c.*1102T>C (n.*1102T>C)
c.1373T>C
c.2027T>C (p.Met676Thr)
c.*1060T>C (n.*1060T>C)
c.947T>C (p.Met316Thr)
c.659T>C (p.Met220Thr)
c.2183T>C (p.Met728Thr)
c.1985T>C (p.Met662Thr)
c.1139T>C (p.Met380Thr)
c.1094T>C (p.Met365Thr)
c.926T>C (p.Met309Thr)
c.800T>C (p.Met267Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.32625709T>GCA384367587FGD4c.1691T>G (p.Met564Arg)
c.1946T>G (p.Met649Arg)
c.1412T>G (p.Met471Arg)
c.503T>G (p.Met168Arg)
n.1198T>G
n.489T>G
c.2102T>G (p.Met701Arg)
c.*1083T>G (n.*1083T>G)
c.*1102T>G (n.*1102T>G)
c.1373T>G
c.2027T>G (p.Met676Arg)
c.*1060T>G (n.*1060T>G)
c.947T>G (p.Met316Arg)
c.659T>G (p.Met220Arg)
c.2183T>G (p.Met728Arg)
c.1985T>G (p.Met662Arg)
c.1139T>G (p.Met380Arg)
c.1094T>G (p.Met365Arg)
c.926T>G (p.Met309Arg)
c.800T>G (p.Met267Arg)
12g.32625709T=CA2026243917FGD4c.1691T= (p.Met564=)
c.1946T= (p.Met649=)
c.1412T= (p.Met471=)
c.503T= (p.Met168=)
n.1198T=
n.489T=
c.2102T= (p.Met701=)
c.*1083T= (n.*1083T=)
c.*1102T= (n.*1102T=)
c.1373T=
c.2027T= (p.Met676=)
c.*1060T= (n.*1060T=)
c.947T= (p.Met316=)
c.659T= (p.Met220=)
c.2183T= (p.Met728=)
c.1985T= (p.Met662=)
c.1139T= (p.Met380=)
c.1094T= (p.Met365=)
c.926T= (p.Met309=)
c.800T= (p.Met267=)
12g.32625710G>ACA384367593FGD4c.1692G>A (p.Met564Ile)
c.1947G>A (p.Met649Ile)
c.1413G>A (p.Met471Ile)
c.504G>A (p.Met168Ile)
n.1199G>A
n.490G>A
c.2103G>A (p.Met701Ile)
c.*1084G>A (n.*1084G>A)
c.*1103G>A (n.*1103G>A)
c.1374G>A
c.2028G>A (p.Met676Ile)
c.*1061G>A (n.*1061G>A)
c.948G>A (p.Met316Ile)
c.660G>A (p.Met220Ile)
c.2184G>A (p.Met728Ile)
c.1986G>A (p.Met662Ile)
c.1140G>A (p.Met380Ile)
c.1095G>A (p.Met365Ile)
c.927G>A (p.Met309Ile)
c.801G>A (p.Met267Ile)
 ClinVar dbSNP gnomAD v4
12g.32625710G>CCA384367596FGD4c.1692G>C (p.Met564Ile)
c.1947G>C (p.Met649Ile)
c.1413G>C (p.Met471Ile)
c.504G>C (p.Met168Ile)
n.1199G>C
n.490G>C
c.2103G>C (p.Met701Ile)
c.*1084G>C (n.*1084G>C)
c.*1103G>C (n.*1103G>C)
c.1374G>C
c.2028G>C (p.Met676Ile)
c.*1061G>C (n.*1061G>C)
c.948G>C (p.Met316Ile)
c.660G>C (p.Met220Ile)
c.2184G>C (p.Met728Ile)
c.1986G>C (p.Met662Ile)
c.1140G>C (p.Met380Ile)
c.1095G>C (p.Met365Ile)
c.927G>C (p.Met309Ile)
c.801G>C (p.Met267Ile)
12g.32625710G=CA2026243922FGD4c.1692G= (p.Met564=)
c.1947G= (p.Met649=)
c.1413G= (p.Met471=)
c.504G= (p.Met168=)
n.1199G=
n.490G=
c.2103G= (p.Met701=)
c.*1084G= (n.*1084G=)
c.*1103G= (n.*1103G=)
c.1374G=
c.2028G= (p.Met676=)
c.*1061G= (n.*1061G=)
c.948G= (p.Met316=)
c.660G= (p.Met220=)
c.2184G= (p.Met728=)
c.1986G= (p.Met662=)
c.1140G= (p.Met380=)
c.1095G= (p.Met365=)
c.927G= (p.Met309=)
c.801G= (p.Met267=)
12g.32625710G>TCA384367599FGD4c.1692G>T (p.Met564Ile)
c.1947G>T (p.Met649Ile)
c.1413G>T (p.Met471Ile)
c.504G>T (p.Met168Ile)
n.1199G>T
n.490G>T
c.2103G>T (p.Met701Ile)
c.*1084G>T (n.*1084G>T)
c.*1103G>T (n.*1103G>T)
c.1374G>T
c.2028G>T (p.Met676Ile)
c.*1061G>T (n.*1061G>T)
c.948G>T (p.Met316Ile)
c.660G>T (p.Met220Ile)
c.2184G>T (p.Met728Ile)
c.1986G>T (p.Met662Ile)
c.1140G>T (p.Met380Ile)
c.1095G>T (p.Met365Ile)
c.927G>T (p.Met309Ile)
c.801G>T (p.Met267Ile)
12g.32625711delCA2580085447FGD4c.1693del (p.Cys565ValfsTer2)
c.1948del (p.Cys650ValfsTer2)
c.1414del (p.Cys472ValfsTer2)
c.505del (p.Cys169ValfsTer2)
n.1200del
n.491del
c.2104del (p.Cys702ValfsTer2)
c.*1085del (n.*1085del)
c.*1104del (n.*1104del)
c.1375del
c.2029del (p.Cys677ValfsTer2)
c.*1062del (n.*1062del)
c.949del (p.Cys317ValfsTer2)
c.661del (p.Cys221ValfsTer2)
c.2185del (p.Cys729ValfsTer2)
c.1987del (p.Cys663ValfsTer2)
c.1141del (p.Cys381ValfsTer2)
c.1096del (p.Cys366ValfsTer2)
c.928del (p.Cys310ValfsTer2)
c.802del (p.Cys268ValfsTer2)
 ClinVar
12g.32625711T>ACA384367604FGD4c.1693T>A (p.Cys565Ser)
c.1948T>A (p.Cys650Ser)
c.1414T>A (p.Cys472Ser)
c.505T>A (p.Cys169Ser)
n.1200T>A
n.491T>A
c.2104T>A (p.Cys702Ser)
c.*1085T>A (n.*1085T>A)
c.*1104T>A (n.*1104T>A)
c.1375T>A
c.2029T>A (p.Cys677Ser)
c.*1062T>A (n.*1062T>A)
c.949T>A (p.Cys317Ser)
c.661T>A (p.Cys221Ser)
c.2185T>A (p.Cys729Ser)
c.1987T>A (p.Cys663Ser)
c.1141T>A (p.Cys381Ser)
c.1096T>A (p.Cys366Ser)
c.928T>A (p.Cys310Ser)
c.802T>A (p.Cys268Ser)
12g.32625711T>CCA384367605FGD4c.1693T>C (p.Cys565Arg)
c.1948T>C (p.Cys650Arg)
c.1414T>C (p.Cys472Arg)
c.505T>C (p.Cys169Arg)
n.1200T>C
n.491T>C
c.2104T>C (p.Cys702Arg)
c.*1085T>C (n.*1085T>C)
c.*1104T>C (n.*1104T>C)
c.1375T>C
c.2029T>C (p.Cys677Arg)
c.*1062T>C (n.*1062T>C)
c.949T>C (p.Cys317Arg)
c.661T>C (p.Cys221Arg)
c.2185T>C (p.Cys729Arg)
c.1987T>C (p.Cys663Arg)
c.1141T>C (p.Cys381Arg)
c.1096T>C (p.Cys366Arg)
c.928T>C (p.Cys310Arg)
c.802T>C (p.Cys268Arg)
 gnomAD v4
12g.32625711T>GCA384367610FGD4c.1693T>G (p.Cys565Gly)
c.1948T>G (p.Cys650Gly)
c.1414T>G (p.Cys472Gly)
c.505T>G (p.Cys169Gly)
n.1200T>G
n.491T>G
c.2104T>G (p.Cys702Gly)
c.*1085T>G (n.*1085T>G)
c.*1104T>G (n.*1104T>G)
c.1375T>G
c.2029T>G (p.Cys677Gly)
c.*1062T>G (n.*1062T>G)
c.949T>G (p.Cys317Gly)
c.661T>G (p.Cys221Gly)
c.2185T>G (p.Cys729Gly)
c.1987T>G (p.Cys663Gly)
c.1141T>G (p.Cys381Gly)
c.1096T>G (p.Cys366Gly)
c.928T>G (p.Cys310Gly)
c.802T>G (p.Cys268Gly)
12g.32625712G>ACA384367615FGD4c.1694G>A (p.Cys565Tyr)
c.1949G>A (p.Cys650Tyr)
c.1415G>A (p.Cys472Tyr)
c.506G>A (p.Cys169Tyr)
n.1201G>A
n.492G>A
c.2105G>A (p.Cys702Tyr)
c.*1086G>A (n.*1086G>A)
c.*1105G>A (n.*1105G>A)
c.1376G>A
c.2030G>A (p.Cys677Tyr)
c.*1063G>A (n.*1063G>A)
c.950G>A (p.Cys317Tyr)
c.662G>A (p.Cys221Tyr)
c.2186G>A (p.Cys729Tyr)
c.1988G>A (p.Cys663Tyr)
c.1142G>A (p.Cys381Tyr)
c.1097G>A (p.Cys366Tyr)
c.929G>A (p.Cys310Tyr)
c.803G>A (p.Cys268Tyr)
 COSMIC
12g.32625712G>CCA384367617FGD4c.1694G>C (p.Cys565Ser)
c.1949G>C (p.Cys650Ser)
c.1415G>C (p.Cys472Ser)
c.506G>C (p.Cys169Ser)
n.1201G>C
n.492G>C
c.2105G>C (p.Cys702Ser)
c.*1086G>C (n.*1086G>C)
c.*1105G>C (n.*1105G>C)
c.1376G>C
c.2030G>C (p.Cys677Ser)
c.*1063G>C (n.*1063G>C)
c.950G>C (p.Cys317Ser)
c.662G>C (p.Cys221Ser)
c.2186G>C (p.Cys729Ser)
c.1988G>C (p.Cys663Ser)
c.1142G>C (p.Cys381Ser)
c.1097G>C (p.Cys366Ser)
c.929G>C (p.Cys310Ser)
c.803G>C (p.Cys268Ser)
12g.32625712G=CA2026243924FGD4c.1694G= (p.Cys565=)
c.1949G= (p.Cys650=)
c.1415G= (p.Cys472=)
c.506G= (p.Cys169=)
n.1201G=
n.492G=
c.2105G= (p.Cys702=)
c.*1086G= (n.*1086G=)
c.*1105G= (n.*1105G=)
c.1376G=
c.2030G= (p.Cys677=)
c.*1063G= (n.*1063G=)
c.950G= (p.Cys317=)
c.662G= (p.Cys221=)
c.2186G= (p.Cys729=)
c.1988G= (p.Cys663=)
c.1142G= (p.Cys381=)
c.1097G= (p.Cys366=)
c.929G= (p.Cys310=)
c.803G= (p.Cys268=)
12g.32625712G>TCA384367622FGD4c.1694G>T (p.Cys565Phe)
c.1949G>T (p.Cys650Phe)
c.1415G>T (p.Cys472Phe)
c.506G>T (p.Cys169Phe)
n.1201G>T
n.492G>T
c.2105G>T (p.Cys702Phe)
c.*1086G>T (n.*1086G>T)
c.*1105G>T (n.*1105G>T)
c.1376G>T
c.2030G>T (p.Cys677Phe)
c.*1063G>T (n.*1063G>T)
c.950G>T (p.Cys317Phe)
c.662G>T (p.Cys221Phe)
c.2186G>T (p.Cys729Phe)
c.1988G>T (p.Cys663Phe)
c.1142G>T (p.Cys381Phe)
c.1097G>T (p.Cys366Phe)
c.929G>T (p.Cys310Phe)
c.803G>T (p.Cys268Phe)
 dbSNP
12g.32625713T>ACA384367624FGD4c.1695T>A (p.Cys565Ter)
c.1950T>A (p.Cys650Ter)
c.1416T>A (p.Cys472Ter)
c.507T>A (p.Cys169Ter)
n.1202T>A
n.493T>A
c.2106T>A (p.Cys702Ter)
c.*1087T>A (n.*1087T>A)
c.*1106T>A (n.*1106T>A)
c.1377T>A
c.2031T>A (p.Cys677Ter)
c.*1064T>A (n.*1064T>A)
c.951T>A (p.Cys317Ter)
c.663T>A (p.Cys221Ter)
c.2187T>A (p.Cys729Ter)
c.1989T>A (p.Cys663Ter)
c.1143T>A (p.Cys381Ter)
c.1098T>A (p.Cys366Ter)
c.930T>A (p.Cys310Ter)
c.804T>A (p.Cys268Ter)
12g.32625713T>CCA479169282FGD4c.1695T>C (p.Cys565=)
c.1950T>C (p.Cys650=)
c.1416T>C (p.Cys472=)
c.507T>C (p.Cys169=)
n.1202T>C
n.493T>C
c.2106T>C (p.Cys702=)
c.*1087T>C (n.*1087T>C)
c.*1106T>C (n.*1106T>C)
c.1377T>C
c.2031T>C (p.Cys677=)
c.*1064T>C (n.*1064T>C)
c.951T>C (p.Cys317=)
c.663T>C (p.Cys221=)
c.2187T>C (p.Cys729=)
c.1989T>C (p.Cys663=)
c.1143T>C (p.Cys381=)
c.1098T>C (p.Cys366=)
c.930T>C (p.Cys310=)
c.804T>C (p.Cys268=)
12g.32625713T>GCA384367625FGD4c.1695T>G (p.Cys565Trp)
c.1950T>G (p.Cys650Trp)
c.1416T>G (p.Cys472Trp)
c.507T>G (p.Cys169Trp)
n.1202T>G
n.493T>G
c.2106T>G (p.Cys702Trp)
c.*1087T>G (n.*1087T>G)
c.*1106T>G (n.*1106T>G)
c.1377T>G
c.2031T>G (p.Cys677Trp)
c.*1064T>G (n.*1064T>G)
c.951T>G (p.Cys317Trp)
c.663T>G (p.Cys221Trp)
c.2187T>G (p.Cys729Trp)
c.1989T>G (p.Cys663Trp)
c.1143T>G (p.Cys381Trp)
c.1098T>G (p.Cys366Trp)
c.930T>G (p.Cys310Trp)
c.804T>G (p.Cys268Trp)
12g.32625714A=CA2026243930FGD4c.1696A= (p.Met566=)
c.1951A= (p.Met651=)
c.1417A= (p.Met473=)
c.508A= (p.Met170=)
n.1203A=
n.494A=
c.2107A= (p.Met703=)
c.*1088A= (n.*1088A=)
c.*1107A= (n.*1107A=)
c.1378A=
c.2032A= (p.Met678=)
c.*1065A= (n.*1065A=)
c.952A= (p.Met318=)
c.664A= (p.Met222=)
c.2188A= (p.Met730=)
c.1990A= (p.Met664=)
c.1144A= (p.Met382=)
c.1099A= (p.Met367=)
c.931A= (p.Met311=)
c.805A= (p.Met269=)
12g.32625714A>CCA384367636FGD4c.1696A>C (p.Met566Leu)
c.1951A>C (p.Met651Leu)
c.1417A>C (p.Met473Leu)
c.508A>C (p.Met170Leu)
n.1203A>C
n.494A>C
c.2107A>C (p.Met703Leu)
c.*1088A>C (n.*1088A>C)
c.*1107A>C (n.*1107A>C)
c.1378A>C
c.2032A>C (p.Met678Leu)
c.*1065A>C (n.*1065A>C)
c.952A>C (p.Met318Leu)
c.664A>C (p.Met222Leu)
c.2188A>C (p.Met730Leu)
c.1990A>C (p.Met664Leu)
c.1144A>C (p.Met382Leu)
c.1099A>C (p.Met367Leu)
c.931A>C (p.Met311Leu)
c.805A>C (p.Met269Leu)
12g.32625714A>GCA384367633FGD4c.1696A>G (p.Met566Val)
c.1951A>G (p.Met651Val)
c.1417A>G (p.Met473Val)
c.508A>G (p.Met170Val)
n.1203A>G
n.494A>G
c.2107A>G (p.Met703Val)
c.*1088A>G (n.*1088A>G)
c.*1107A>G (n.*1107A>G)
c.1378A>G
c.2032A>G (p.Met678Val)
c.*1065A>G (n.*1065A>G)
c.952A>G (p.Met318Val)
c.664A>G (p.Met222Val)
c.2188A>G (p.Met730Val)
c.1990A>G (p.Met664Val)
c.1144A>G (p.Met382Val)
c.1099A>G (p.Met367Val)
c.931A>G (p.Met311Val)
c.805A>G (p.Met269Val)
 dbSNP
12g.32625714A>TCA235236187FGD4c.1696A>T (p.Met566Leu)
c.1951A>T (p.Met651Leu)
c.1417A>T (p.Met473Leu)
c.508A>T (p.Met170Leu)
n.1203A>T
n.494A>T
c.2107A>T (p.Met703Leu)
c.*1088A>T (n.*1088A>T)
c.*1107A>T (n.*1107A>T)
c.1378A>T
c.2032A>T (p.Met678Leu)
c.*1065A>T (n.*1065A>T)
c.952A>T (p.Met318Leu)
c.664A>T (p.Met222Leu)
c.2188A>T (p.Met730Leu)
c.1990A>T (p.Met664Leu)
c.1144A>T (p.Met382Leu)
c.1099A>T (p.Met367Leu)
c.931A>T (p.Met311Leu)
c.805A>T (p.Met269Leu)
 dbSNP
12g.32625715T>ACA384367639FGD4c.1697T>A (p.Met566Lys)
c.1952T>A (p.Met651Lys)
c.1418T>A (p.Met473Lys)
c.509T>A (p.Met170Lys)
n.1204T>A
n.495T>A
c.2108T>A (p.Met703Lys)
c.*1089T>A (n.*1089T>A)
c.*1108T>A (n.*1108T>A)
c.1379T>A
c.2033T>A (p.Met678Lys)
c.*1066T>A (n.*1066T>A)
c.953T>A (p.Met318Lys)
c.665T>A (p.Met222Lys)
c.2189T>A (p.Met730Lys)
c.1991T>A (p.Met664Lys)
c.1145T>A (p.Met382Lys)
c.1100T>A (p.Met367Lys)
c.932T>A (p.Met311Lys)
c.806T>A (p.Met269Lys)
12g.32625715T>CCA384367642FGD4c.1697T>C (p.Met566Thr)
c.1952T>C (p.Met651Thr)
c.1418T>C (p.Met473Thr)
c.509T>C (p.Met170Thr)
n.1204T>C
n.495T>C
c.2108T>C (p.Met703Thr)
c.*1089T>C (n.*1089T>C)
c.*1108T>C (n.*1108T>C)
c.1379T>C
c.2033T>C (p.Met678Thr)
c.*1066T>C (n.*1066T>C)
c.953T>C (p.Met318Thr)
c.665T>C (p.Met222Thr)
c.2189T>C (p.Met730Thr)
c.1991T>C (p.Met664Thr)
c.1145T>C (p.Met382Thr)
c.1100T>C (p.Met367Thr)
c.932T>C (p.Met311Thr)
c.806T>C (p.Met269Thr)
12g.32625715T>GCA384367645FGD4c.1697T>G (p.Met566Arg)
c.1952T>G (p.Met651Arg)
c.1418T>G (p.Met473Arg)
c.509T>G (p.Met170Arg)
n.1204T>G
n.495T>G
c.2108T>G (p.Met703Arg)
c.*1089T>G (n.*1089T>G)
c.*1108T>G (n.*1108T>G)
c.1379T>G
c.2033T>G (p.Met678Arg)
c.*1066T>G (n.*1066T>G)
c.953T>G (p.Met318Arg)
c.665T>G (p.Met222Arg)
c.2189T>G (p.Met730Arg)
c.1991T>G (p.Met664Arg)
c.1145T>G (p.Met382Arg)
c.1100T>G (p.Met367Arg)
c.932T>G (p.Met311Arg)
c.806T>G (p.Met269Arg)
12g.32625716G>ACA384367648FGD4c.1698G>A (p.Met566Ile)
c.1953G>A (p.Met651Ile)
c.1419G>A (p.Met473Ile)
c.510G>A (p.Met170Ile)
n.1205G>A
n.496G>A
c.2109G>A (p.Met703Ile)
c.*1090G>A (n.*1090G>A)
c.*1109G>A (n.*1109G>A)
c.1380G>A
c.2034G>A (p.Met678Ile)
c.*1067G>A (n.*1067G>A)
c.954G>A (p.Met318Ile)
c.666G>A (p.Met222Ile)
c.2190G>A (p.Met730Ile)
c.1992G>A (p.Met664Ile)
c.1146G>A (p.Met382Ile)
c.1101G>A (p.Met367Ile)
c.933G>A (p.Met311Ile)
c.807G>A (p.Met269Ile)
 ClinVar dbSNP
12g.32625716G>CCA384367652FGD4c.1698G>C (p.Met566Ile)
c.1953G>C (p.Met651Ile)
c.1419G>C (p.Met473Ile)
c.510G>C (p.Met170Ile)
n.1205G>C
n.496G>C
c.2109G>C (p.Met703Ile)
c.*1090G>C (n.*1090G>C)
c.*1109G>C (n.*1109G>C)
c.1380G>C
c.2034G>C (p.Met678Ile)
c.*1067G>C (n.*1067G>C)
c.954G>C (p.Met318Ile)
c.666G>C (p.Met222Ile)
c.2190G>C (p.Met730Ile)
c.1992G>C (p.Met664Ile)
c.1146G>C (p.Met382Ile)
c.1101G>C (p.Met367Ile)
c.933G>C (p.Met311Ile)
c.807G>C (p.Met269Ile)
12g.32625716G=CA2026243942FGD4c.1698G= (p.Met566=)
c.1953G= (p.Met651=)
c.1419G= (p.Met473=)
c.510G= (p.Met170=)
n.1205G=
n.496G=
c.2109G= (p.Met703=)
c.*1090G= (n.*1090G=)
c.*1109G= (n.*1109G=)
c.1380G=
c.2034G= (p.Met678=)
c.*1067G= (n.*1067G=)
c.954G= (p.Met318=)
c.666G= (p.Met222=)
c.2190G= (p.Met730=)
c.1992G= (p.Met664=)
c.1146G= (p.Met382=)
c.1101G= (p.Met367=)
c.933G= (p.Met311=)
c.807G= (p.Met269=)
12g.32625716G>TCA384367653FGD4c.1698G>T (p.Met566Ile)
c.1953G>T (p.Met651Ile)
c.1419G>T (p.Met473Ile)
c.510G>T (p.Met170Ile)
n.1205G>T
n.496G>T
c.2109G>T (p.Met703Ile)
c.*1090G>T (n.*1090G>T)
c.*1109G>T (n.*1109G>T)
c.1380G>T
c.2034G>T (p.Met678Ile)
c.*1067G>T (n.*1067G>T)
c.954G>T (p.Met318Ile)
c.666G>T (p.Met222Ile)
c.2190G>T (p.Met730Ile)
c.1992G>T (p.Met664Ile)
c.1146G>T (p.Met382Ile)
c.1101G>T (p.Met367Ile)
c.933G>T (p.Met311Ile)
c.807G>T (p.Met269Ile)
12g.32625717A>CCA384367663FGD4c.1699A>C (p.Lys567Gln)
c.1954A>C (p.Lys652Gln)
c.1420A>C (p.Lys474Gln)
c.511A>C (p.Lys171Gln)
n.1206A>C
n.497A>C
c.2110A>C (p.Lys704Gln)
c.*1091A>C (n.*1091A>C)
c.*1110A>C (n.*1110A>C)
c.1381A>C
c.2035A>C (p.Lys679Gln)
c.*1068A>C (n.*1068A>C)
c.955A>C (p.Lys319Gln)
c.667A>C (p.Lys223Gln)
c.2191A>C (p.Lys731Gln)
c.1993A>C (p.Lys665Gln)
c.1147A>C (p.Lys383Gln)
c.1102A>C (p.Lys368Gln)
c.934A>C (p.Lys312Gln)
c.808A>C (p.Lys270Gln)
12g.32625717A>GCA384367656FGD4c.1699A>G (p.Lys567Glu)
c.1954A>G (p.Lys652Glu)
c.1420A>G (p.Lys474Glu)
c.511A>G (p.Lys171Glu)
n.1206A>G
n.497A>G
c.2110A>G (p.Lys704Glu)
c.*1091A>G (n.*1091A>G)
c.*1110A>G (n.*1110A>G)
c.1381A>G
c.2035A>G (p.Lys679Glu)
c.*1068A>G (n.*1068A>G)
c.955A>G (p.Lys319Glu)
c.667A>G (p.Lys223Glu)
c.2191A>G (p.Lys731Glu)
c.1993A>G (p.Lys665Glu)
c.1147A>G (p.Lys383Glu)
c.1102A>G (p.Lys368Glu)
c.934A>G (p.Lys312Glu)
c.808A>G (p.Lys270Glu)
12g.32625717A>TCA384367660FGD4c.1699A>T (p.Lys567Ter)
c.1954A>T (p.Lys652Ter)
c.1420A>T (p.Lys474Ter)
c.511A>T (p.Lys171Ter)
n.1206A>T
n.497A>T
c.2110A>T (p.Lys704Ter)
c.*1091A>T (n.*1091A>T)
c.*1110A>T (n.*1110A>T)
c.1381A>T
c.2035A>T (p.Lys679Ter)
c.*1068A>T (n.*1068A>T)
c.955A>T (p.Lys319Ter)
c.667A>T (p.Lys223Ter)
c.2191A>T (p.Lys731Ter)
c.1993A>T (p.Lys665Ter)
c.1147A>T (p.Lys383Ter)
c.1102A>T (p.Lys368Ter)
c.934A>T (p.Lys312Ter)
c.808A>T (p.Lys270Ter)
12g.32625718A>CCA384367667FGD4c.1700A>C (p.Lys567Thr)
c.1955A>C (p.Lys652Thr)
c.1421A>C (p.Lys474Thr)
c.512A>C (p.Lys171Thr)
n.1207A>C
n.498A>C
c.2111A>C (p.Lys704Thr)
c.*1092A>C (n.*1092A>C)
c.*1111A>C (n.*1111A>C)
c.1382A>C
c.2036A>C (p.Lys679Thr)
c.*1069A>C (n.*1069A>C)
c.956A>C (p.Lys319Thr)
c.668A>C (p.Lys223Thr)
c.2192A>C (p.Lys731Thr)
c.1994A>C (p.Lys665Thr)
c.1148A>C (p.Lys383Thr)
c.1103A>C (p.Lys368Thr)
c.935A>C (p.Lys312Thr)
c.809A>C (p.Lys270Thr)
12g.32625718A>GCA384367669FGD4c.1700A>G (p.Lys567Arg)
c.1955A>G (p.Lys652Arg)
c.1421A>G (p.Lys474Arg)
c.512A>G (p.Lys171Arg)
n.1207A>G
n.498A>G
c.2111A>G (p.Lys704Arg)
c.*1092A>G (n.*1092A>G)
c.*1111A>G (n.*1111A>G)
c.1382A>G
c.2036A>G (p.Lys679Arg)
c.*1069A>G (n.*1069A>G)
c.956A>G (p.Lys319Arg)
c.668A>G (p.Lys223Arg)
c.2192A>G (p.Lys731Arg)
c.1994A>G (p.Lys665Arg)
c.1148A>G (p.Lys383Arg)
c.1103A>G (p.Lys368Arg)
c.935A>G (p.Lys312Arg)
c.809A>G (p.Lys270Arg)
12g.32625718A>TCA384367672FGD4c.1700A>T (p.Lys567Ile)
c.1955A>T (p.Lys652Ile)
c.1421A>T (p.Lys474Ile)
c.512A>T (p.Lys171Ile)
n.1207A>T
n.498A>T
c.2111A>T (p.Lys704Ile)
c.*1092A>T (n.*1092A>T)
c.*1111A>T (n.*1111A>T)
c.1382A>T
c.2036A>T (p.Lys679Ile)
c.*1069A>T (n.*1069A>T)
c.956A>T (p.Lys319Ile)
c.668A>T (p.Lys223Ile)
c.2192A>T (p.Lys731Ile)
c.1994A>T (p.Lys665Ile)
c.1148A>T (p.Lys383Ile)
c.1103A>T (p.Lys368Ile)
c.935A>T (p.Lys312Ile)
c.809A>T (p.Lys270Ile)
12g.32625719A>CCA384367676FGD4c.1701A>C (p.Lys567Asn)
c.1956A>C (p.Lys652Asn)
c.1422A>C (p.Lys474Asn)
c.513A>C (p.Lys171Asn)
n.1208A>C
n.499A>C
c.2112A>C (p.Lys704Asn)
c.*1093A>C (n.*1093A>C)
c.*1112A>C (n.*1112A>C)
c.1383A>C
c.2037A>C (p.Lys679Asn)
c.*1070A>C (n.*1070A>C)
c.957A>C (p.Lys319Asn)
c.669A>C (p.Lys223Asn)
c.2193A>C (p.Lys731Asn)
c.1995A>C (p.Lys665Asn)
c.1149A>C (p.Lys383Asn)
c.1104A>C (p.Lys368Asn)
c.936A>C (p.Lys312Asn)
c.810A>C (p.Lys270Asn)
12g.32625719A>GCA479169287FGD4c.1701A>G (p.Lys567=)
c.1956A>G (p.Lys652=)
c.1422A>G (p.Lys474=)
c.513A>G (p.Lys171=)
n.1208A>G
n.499A>G
c.2112A>G (p.Lys704=)
c.*1093A>G (n.*1093A>G)
c.*1112A>G (n.*1112A>G)
c.1383A>G
c.2037A>G (p.Lys679=)
c.*1070A>G (n.*1070A>G)
c.957A>G (p.Lys319=)
c.669A>G (p.Lys223=)
c.2193A>G (p.Lys731=)
c.1995A>G (p.Lys665=)
c.1149A>G (p.Lys383=)
c.1104A>G (p.Lys368=)
c.936A>G (p.Lys312=)
c.810A>G (p.Lys270=)
12g.32625719A>TCA384367679FGD4c.1701A>T (p.Lys567Asn)
c.1956A>T (p.Lys652Asn)
c.1422A>T (p.Lys474Asn)
c.513A>T (p.Lys171Asn)
n.1208A>T
n.499A>T
c.2112A>T (p.Lys704Asn)
c.*1093A>T (n.*1093A>T)
c.*1112A>T (n.*1112A>T)
c.1383A>T
c.2037A>T (p.Lys679Asn)
c.*1070A>T (n.*1070A>T)
c.957A>T (p.Lys319Asn)
c.669A>T (p.Lys223Asn)
c.2193A>T (p.Lys731Asn)
c.1995A>T (p.Lys665Asn)
c.1149A>T (p.Lys383Asn)
c.1104A>T (p.Lys368Asn)
c.936A>T (p.Lys312Asn)
c.810A>T (p.Lys270Asn)
 COSMIC COSMIC
12g.32625720T>ACA384367683FGD4c.1702T>A (p.Cys568Ser)
c.1957T>A (p.Cys653Ser)
c.1423T>A (p.Cys475Ser)
c.514T>A (p.Cys172Ser)
n.1209T>A
n.500T>A
c.2113T>A (p.Cys705Ser)
c.*1094T>A (n.*1094T>A)
c.*1113T>A (n.*1113T>A)
c.1384T>A
c.2038T>A (p.Cys680Ser)
c.*1071T>A (n.*1071T>A)
c.958T>A (p.Cys320Ser)
c.670T>A (p.Cys224Ser)
c.2194T>A (p.Cys732Ser)
c.1996T>A (p.Cys666Ser)
c.1150T>A (p.Cys384Ser)
c.1105T>A (p.Cys369Ser)
c.937T>A (p.Cys313Ser)
c.811T>A (p.Cys271Ser)
12g.32625720T>CCA384367689FGD4c.1702T>C (p.Cys568Arg)
c.1957T>C (p.Cys653Arg)
c.1423T>C (p.Cys475Arg)
c.514T>C (p.Cys172Arg)
n.1209T>C
n.500T>C
c.2113T>C (p.Cys705Arg)
c.*1094T>C (n.*1094T>C)
c.*1113T>C (n.*1113T>C)
c.1384T>C
c.2038T>C (p.Cys680Arg)
c.*1071T>C (n.*1071T>C)
c.958T>C (p.Cys320Arg)
c.670T>C (p.Cys224Arg)
c.2194T>C (p.Cys732Arg)
c.1996T>C (p.Cys666Arg)
c.1150T>C (p.Cys384Arg)
c.1105T>C (p.Cys369Arg)
c.937T>C (p.Cys313Arg)
c.811T>C (p.Cys271Arg)
12g.32625720T>GCA384367686FGD4c.1702T>G (p.Cys568Gly)
c.1957T>G (p.Cys653Gly)
c.1423T>G (p.Cys475Gly)
c.514T>G (p.Cys172Gly)
n.1209T>G
n.500T>G
c.2113T>G (p.Cys705Gly)
c.*1094T>G (n.*1094T>G)
c.*1113T>G (n.*1113T>G)
c.1384T>G
c.2038T>G (p.Cys680Gly)
c.*1071T>G (n.*1071T>G)
c.958T>G (p.Cys320Gly)
c.670T>G (p.Cys224Gly)
c.2194T>G (p.Cys732Gly)
c.1996T>G (p.Cys666Gly)
c.1150T>G (p.Cys384Gly)
c.1105T>G (p.Cys369Gly)
c.937T>G (p.Cys313Gly)
c.811T>G (p.Cys271Gly)
12g.32625721G>ACA384367693FGD4c.1703G>A (p.Cys568Tyr)
c.1958G>A (p.Cys653Tyr)
c.1424G>A (p.Cys475Tyr)
c.515G>A (p.Cys172Tyr)
n.1210G>A
n.501G>A
c.2114G>A (p.Cys705Tyr)
c.*1095G>A (n.*1095G>A)
c.*1114G>A (n.*1114G>A)
c.1385G>A
c.2039G>A (p.Cys680Tyr)
c.*1072G>A (n.*1072G>A)
c.959G>A (p.Cys320Tyr)
c.671G>A (p.Cys224Tyr)
c.2195G>A (p.Cys732Tyr)
c.1997G>A (p.Cys666Tyr)
c.1151G>A (p.Cys384Tyr)
c.1106G>A (p.Cys369Tyr)
c.938G>A (p.Cys313Tyr)
c.812G>A (p.Cys271Tyr)
12g.32625721G>CCA384367695FGD4c.1703G>C (p.Cys568Ser)
c.1958G>C (p.Cys653Ser)
c.1424G>C (p.Cys475Ser)
c.515G>C (p.Cys172Ser)
n.1210G>C
n.501G>C
c.2114G>C (p.Cys705Ser)
c.*1095G>C (n.*1095G>C)
c.*1114G>C (n.*1114G>C)
c.1385G>C
c.2039G>C (p.Cys680Ser)
c.*1072G>C (n.*1072G>C)
c.959G>C (p.Cys320Ser)
c.671G>C (p.Cys224Ser)
c.2195G>C (p.Cys732Ser)
c.1997G>C (p.Cys666Ser)
c.1151G>C (p.Cys384Ser)
c.1106G>C (p.Cys369Ser)
c.938G>C (p.Cys313Ser)
c.812G>C (p.Cys271Ser)
12g.32625721G>TCA384367697FGD4c.1703G>T (p.Cys568Phe)
c.1958G>T (p.Cys653Phe)
c.1424G>T (p.Cys475Phe)
c.515G>T (p.Cys172Phe)
n.1210G>T
n.501G>T
c.2114G>T (p.Cys705Phe)
c.*1095G>T (n.*1095G>T)
c.*1114G>T (n.*1114G>T)
c.1385G>T
c.2039G>T (p.Cys680Phe)
c.*1072G>T (n.*1072G>T)
c.959G>T (p.Cys320Phe)
c.671G>T (p.Cys224Phe)
c.2195G>T (p.Cys732Phe)
c.1997G>T (p.Cys666Phe)
c.1151G>T (p.Cys384Phe)
c.1106G>T (p.Cys369Phe)
c.938G>T (p.Cys313Phe)
c.812G>T (p.Cys271Phe)
12g.32625722T>ACA384367702FGD4c.1704T>A (p.Cys568Ter)
c.1959T>A (p.Cys653Ter)
c.1425T>A (p.Cys475Ter)
c.516T>A (p.Cys172Ter)
n.1211T>A
n.502T>A
c.2115T>A (p.Cys705Ter)
c.*1096T>A (n.*1096T>A)
c.*1115T>A (n.*1115T>A)
c.1386T>A
c.2040T>A (p.Cys680Ter)
c.*1073T>A (n.*1073T>A)
c.960T>A (p.Cys320Ter)
c.672T>A (p.Cys224Ter)
c.2196T>A (p.Cys732Ter)
c.1998T>A (p.Cys666Ter)
c.1152T>A (p.Cys384Ter)
c.1107T>A (p.Cys369Ter)
c.939T>A (p.Cys313Ter)
c.813T>A (p.Cys271Ter)
12g.32625722T>CCA479169289FGD4c.1704T>C (p.Cys568=)
c.1959T>C (p.Cys653=)
c.1425T>C (p.Cys475=)
c.516T>C (p.Cys172=)
n.1211T>C
n.502T>C
c.2115T>C (p.Cys705=)
c.*1096T>C (n.*1096T>C)
c.*1115T>C (n.*1115T>C)
c.1386T>C
c.2040T>C (p.Cys680=)
c.*1073T>C (n.*1073T>C)
c.960T>C (p.Cys320=)
c.672T>C (p.Cys224=)
c.2196T>C (p.Cys732=)
c.1998T>C (p.Cys666=)
c.1152T>C (p.Cys384=)
c.1107T>C (p.Cys369=)
c.939T>C (p.Cys313=)
c.813T>C (p.Cys271=)
 dbSNP gnomAD v3 gnomAD v4
12g.32625722T>GCA384367703FGD4c.1704T>G (p.Cys568Trp)
c.1959T>G (p.Cys653Trp)
c.1425T>G (p.Cys475Trp)
c.516T>G (p.Cys172Trp)
n.1211T>G
n.502T>G
c.2115T>G (p.Cys705Trp)
c.*1096T>G (n.*1096T>G)
c.*1115T>G (n.*1115T>G)
c.1386T>G
c.2040T>G (p.Cys680Trp)
c.*1073T>G (n.*1073T>G)
c.960T>G (p.Cys320Trp)
c.672T>G (p.Cys224Trp)
c.2196T>G (p.Cys732Trp)
c.1998T>G (p.Cys666Trp)
c.1152T>G (p.Cys384Trp)
c.1107T>G (p.Cys369Trp)
c.939T>G (p.Cys313Trp)
c.813T>G (p.Cys271Trp)
12g.32625723A>CCA384367709FGD4c.1705A>C (p.Lys569Gln)
c.1960A>C (p.Lys654Gln)
c.1426A>C (p.Lys476Gln)
c.517A>C (p.Lys173Gln)
n.1212A>C
n.503A>C
c.2116A>C (p.Lys706Gln)
c.*1097A>C (n.*1097A>C)
c.*1116A>C (n.*1116A>C)
c.1387A>C
c.2041A>C (p.Lys681Gln)
c.*1074A>C (n.*1074A>C)
c.961A>C (p.Lys321Gln)
c.673A>C (p.Lys225Gln)
c.2197A>C (p.Lys733Gln)
c.1999A>C (p.Lys667Gln)
c.1153A>C (p.Lys385Gln)
c.1108A>C (p.Lys370Gln)
c.940A>C (p.Lys314Gln)
c.814A>C (p.Lys272Gln)
12g.32625723A>GCA384367712FGD4c.1705A>G (p.Lys569Glu)
c.1960A>G (p.Lys654Glu)
c.1426A>G (p.Lys476Glu)
c.517A>G (p.Lys173Glu)
n.1212A>G
n.503A>G
c.2116A>G (p.Lys706Glu)
c.*1097A>G (n.*1097A>G)
c.*1116A>G (n.*1116A>G)
c.1387A>G
c.2041A>G (p.Lys681Glu)
c.*1074A>G (n.*1074A>G)
c.961A>G (p.Lys321Glu)
c.673A>G (p.Lys225Glu)
c.2197A>G (p.Lys733Glu)
c.1999A>G (p.Lys667Glu)
c.1153A>G (p.Lys385Glu)
c.1108A>G (p.Lys370Glu)
c.940A>G (p.Lys314Glu)
c.814A>G (p.Lys272Glu)
12g.32625723A>TCA384367716FGD4c.1705A>T (p.Lys569Ter)
c.1960A>T (p.Lys654Ter)
c.1426A>T (p.Lys476Ter)
c.517A>T (p.Lys173Ter)
n.1212A>T
n.503A>T
c.2116A>T (p.Lys706Ter)
c.*1097A>T (n.*1097A>T)
c.*1116A>T (n.*1116A>T)
c.1387A>T
c.2041A>T (p.Lys681Ter)
c.*1074A>T (n.*1074A>T)
c.961A>T (p.Lys321Ter)
c.673A>T (p.Lys225Ter)
c.2197A>T (p.Lys733Ter)
c.1999A>T (p.Lys667Ter)
c.1153A>T (p.Lys385Ter)
c.1108A>T (p.Lys370Ter)
c.940A>T (p.Lys314Ter)
c.814A>T (p.Lys272Ter)
12g.32625724A=CA2026243951FGD4c.1706A= (p.Lys569=)
c.1961A= (p.Lys654=)
c.1427A= (p.Lys476=)
c.518A= (p.Lys173=)
n.1213A=
n.504A=
c.2117A= (p.Lys706=)
c.*1098A= (n.*1098A=)
c.*1117A= (n.*1117A=)
c.1388A=
c.2042A= (p.Lys681=)
c.*1075A= (n.*1075A=)
c.962A= (p.Lys321=)
c.674A= (p.Lys225=)
c.2198A= (p.Lys733=)
c.2000A= (p.Lys667=)
c.1154A= (p.Lys385=)
c.1109A= (p.Lys370=)
c.941A= (p.Lys314=)
c.815A= (p.Lys272=)
12g.32625724A>CCA384367721FGD4c.1706A>C (p.Lys569Thr)
c.1961A>C (p.Lys654Thr)
c.1427A>C (p.Lys476Thr)
c.518A>C (p.Lys173Thr)
n.1213A>C
n.504A>C
c.2117A>C (p.Lys706Thr)
c.*1098A>C (n.*1098A>C)
c.*1117A>C (n.*1117A>C)
c.1388A>C
c.2042A>C (p.Lys681Thr)
c.*1075A>C (n.*1075A>C)
c.962A>C (p.Lys321Thr)
c.674A>C (p.Lys225Thr)
c.2198A>C (p.Lys733Thr)
c.2000A>C (p.Lys667Thr)
c.1154A>C (p.Lys385Thr)
c.1109A>C (p.Lys370Thr)
c.941A>C (p.Lys314Thr)
c.815A>C (p.Lys272Thr)
12g.32625724A>GCA384367724FGD4c.1706A>G (p.Lys569Arg)
c.1961A>G (p.Lys654Arg)
c.1427A>G (p.Lys476Arg)
c.518A>G (p.Lys173Arg)
n.1213A>G
n.504A>G
c.2117A>G (p.Lys706Arg)
c.*1098A>G (n.*1098A>G)
c.*1117A>G (n.*1117A>G)
c.1388A>G
c.2042A>G (p.Lys681Arg)
c.*1075A>G (n.*1075A>G)
c.962A>G (p.Lys321Arg)
c.674A>G (p.Lys225Arg)
c.2198A>G (p.Lys733Arg)
c.2000A>G (p.Lys667Arg)
c.1154A>G (p.Lys385Arg)
c.1109A>G (p.Lys370Arg)
c.941A>G (p.Lys314Arg)
c.815A>G (p.Lys272Arg)
 ClinVar dbSNP gnomAD v4
12g.32625724A>TCA384367729FGD4c.1706A>T (p.Lys569Ile)
c.1961A>T (p.Lys654Ile)
c.1427A>T (p.Lys476Ile)
c.518A>T (p.Lys173Ile)
n.1213A>T
n.504A>T
c.2117A>T (p.Lys706Ile)
c.*1098A>T (n.*1098A>T)
c.*1117A>T (n.*1117A>T)
c.1388A>T
c.2042A>T (p.Lys681Ile)
c.*1075A>T (n.*1075A>T)
c.962A>T (p.Lys321Ile)
c.674A>T (p.Lys225Ile)
c.2198A>T (p.Lys733Ile)
c.2000A>T (p.Lys667Ile)
c.1154A>T (p.Lys385Ile)
c.1109A>T (p.Lys370Ile)
c.941A>T (p.Lys314Ile)
c.815A>T (p.Lys272Ile)
12g.32625725A=CA2026243959FGD4c.1707A= (p.Lys569=)
c.1962A= (p.Lys654=)
c.1428A= (p.Lys476=)
c.519A= (p.Lys173=)
n.1214A=
n.505A=
c.2118A= (p.Lys706=)
c.*1099A= (n.*1099A=)
c.*1118A= (n.*1118A=)
c.1389A=
c.2043A= (p.Lys681=)
c.*1076A= (n.*1076A=)
c.963A= (p.Lys321=)
c.675A= (p.Lys225=)
c.2199A= (p.Lys733=)
c.2001A= (p.Lys667=)
c.1155A= (p.Lys385=)
c.1110A= (p.Lys370=)
c.942A= (p.Lys314=)
c.816A= (p.Lys272=)
12g.32625725A>CCA384367732FGD4c.1707A>C (p.Lys569Asn)
c.1962A>C (p.Lys654Asn)
c.1428A>C (p.Lys476Asn)
c.519A>C (p.Lys173Asn)
n.1214A>C
n.505A>C
c.2118A>C (p.Lys706Asn)
c.*1099A>C (n.*1099A>C)
c.*1118A>C (n.*1118A>C)
c.1389A>C
c.2043A>C (p.Lys681Asn)
c.*1076A>C (n.*1076A>C)
c.963A>C (p.Lys321Asn)
c.675A>C (p.Lys225Asn)
c.2199A>C (p.Lys733Asn)
c.2001A>C (p.Lys667Asn)
c.1155A>C (p.Lys385Asn)
c.1110A>C (p.Lys370Asn)
c.942A>C (p.Lys314Asn)
c.816A>C (p.Lys272Asn)
12g.32625725A>GCA479169292FGD4c.1707A>G (p.Lys569=)
c.1962A>G (p.Lys654=)
c.1428A>G (p.Lys476=)
c.519A>G (p.Lys173=)
n.1214A>G
n.505A>G
c.2118A>G (p.Lys706=)
c.*1099A>G (n.*1099A>G)
c.*1118A>G (n.*1118A>G)
c.1389A>G
c.2043A>G (p.Lys681=)
c.*1076A>G (n.*1076A>G)
c.963A>G (p.Lys321=)
c.675A>G (p.Lys225=)
c.2199A>G (p.Lys733=)
c.2001A>G (p.Lys667=)
c.1155A>G (p.Lys385=)
c.1110A>G (p.Lys370=)
c.942A>G (p.Lys314=)
c.816A>G (p.Lys272=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32625725A>TCA384367733FGD4c.1707A>T (p.Lys569Asn)
c.1962A>T (p.Lys654Asn)
c.1428A>T (p.Lys476Asn)
c.519A>T (p.Lys173Asn)
n.1214A>T
n.505A>T
c.2118A>T (p.Lys706Asn)
c.*1099A>T (n.*1099A>T)
c.*1118A>T (n.*1118A>T)
c.1389A>T
c.2043A>T (p.Lys681Asn)
c.*1076A>T (n.*1076A>T)
c.963A>T (p.Lys321Asn)
c.675A>T (p.Lys225Asn)
c.2199A>T (p.Lys733Asn)
c.2001A>T (p.Lys667Asn)
c.1155A>T (p.Lys385Asn)
c.1110A>T (p.Lys370Asn)
c.942A>T (p.Lys314Asn)
c.816A>T (p.Lys272Asn)
12g.32625726G>ACA384367739FGD4c.1708G>A (p.Glu570Lys)
c.1963G>A (p.Glu655Lys)
c.1429G>A (p.Glu477Lys)
c.520G>A (p.Glu174Lys)
n.1215G>A
n.506G>A
c.2119G>A (p.Glu707Lys)
c.*1100G>A (n.*1100G>A)
c.*1119G>A (n.*1119G>A)
c.1390G>A
c.2044G>A (p.Glu682Lys)
c.*1077G>A (n.*1077G>A)
c.964G>A (p.Glu322Lys)
c.676G>A (p.Glu226Lys)
c.2200G>A (p.Glu734Lys)
c.2002G>A (p.Glu668Lys)
c.1156G>A (p.Glu386Lys)
c.1111G>A (p.Glu371Lys)
c.943G>A (p.Glu315Lys)
c.817G>A (p.Glu273Lys)
12g.32625726G>CCA384367741FGD4c.1708G>C (p.Glu570Gln)
c.1963G>C (p.Glu655Gln)
c.1429G>C (p.Glu477Gln)
c.520G>C (p.Glu174Gln)
n.1215G>C
n.506G>C
c.2119G>C (p.Glu707Gln)
c.*1100G>C (n.*1100G>C)
c.*1119G>C (n.*1119G>C)
c.1390G>C
c.2044G>C (p.Glu682Gln)
c.*1077G>C (n.*1077G>C)
c.964G>C (p.Glu322Gln)
c.676G>C (p.Glu226Gln)
c.2200G>C (p.Glu734Gln)
c.2002G>C (p.Glu668Gln)
c.1156G>C (p.Glu386Gln)
c.1111G>C (p.Glu371Gln)
c.943G>C (p.Glu315Gln)
c.817G>C (p.Glu273Gln)
12g.32625726G>TCA384367743FGD4c.1708G>T (p.Glu570Ter)
c.1963G>T (p.Glu655Ter)
c.1429G>T (p.Glu477Ter)
c.520G>T (p.Glu174Ter)
n.1215G>T
n.506G>T
c.2119G>T (p.Glu707Ter)
c.*1100G>T (n.*1100G>T)
c.*1119G>T (n.*1119G>T)
c.1390G>T
c.2044G>T (p.Glu682Ter)
c.*1077G>T (n.*1077G>T)
c.964G>T (p.Glu322Ter)
c.676G>T (p.Glu226Ter)
c.2200G>T (p.Glu734Ter)
c.2002G>T (p.Glu668Ter)
c.1156G>T (p.Glu386Ter)
c.1111G>T (p.Glu371Ter)
c.943G>T (p.Glu315Ter)
c.817G>T (p.Glu273Ter)
12g.32625726dupCA604226247FGD4c.1708dup (p.Glu570GlyfsTer?)
c.1963dup (p.Glu655GlyfsTer?)
c.1429dup (p.Glu477GlyfsTer?)
c.520dup (p.Glu174GlyfsTer?)
n.1215dup
n.506dup
c.2119dup (p.Glu707GlyfsTer?)
c.*1100dup (n.*1100dup)
c.*1119dup (n.*1119dup)
c.1390dup
c.2044dup (p.Glu682GlyfsTer?)
c.*1077dup (n.*1077dup)
c.964dup (p.Glu322GlyfsTer?)
c.676dup (p.Glu226GlyfsTer?)
c.2200dup (p.Glu734GlyfsTer?)
c.2002dup (p.Glu668GlyfsTer?)
c.1156dup (p.Glu386GlyfsTer?)
c.1111dup (p.Glu371GlyfsTer?)
c.943dup (p.Glu315GlyfsTer?)
c.817dup (p.Glu273GlyfsTer?)
 gnomAD v2 gnomAD v3 gnomAD v4
12g.32625727A>CCA384367745FGD4c.1709A>C (p.Glu570Ala)
c.1964A>C (p.Glu655Ala)
c.1430A>C (p.Glu477Ala)
c.521A>C (p.Glu174Ala)
n.1216A>C
n.507A>C
c.2120A>C (p.Glu707Ala)
c.*1101A>C (n.*1101A>C)
c.*1120A>C (n.*1120A>C)
c.1391A>C
c.2045A>C (p.Glu682Ala)
c.*1078A>C (n.*1078A>C)
c.965A>C (p.Glu322Ala)
c.677A>C (p.Glu226Ala)
c.2201A>C (p.Glu734Ala)
c.2003A>C (p.Glu668Ala)
c.1157A>C (p.Glu386Ala)
c.1112A>C (p.Glu371Ala)
c.944A>C (p.Glu315Ala)
c.818A>C (p.Glu273Ala)
12g.32625727A>GCA384367748FGD4c.1709A>G (p.Glu570Gly)
c.1964A>G (p.Glu655Gly)
c.1430A>G (p.Glu477Gly)
c.521A>G (p.Glu174Gly)
n.1216A>G
n.507A>G
c.2120A>G (p.Glu707Gly)
c.*1101A>G (n.*1101A>G)
c.*1120A>G (n.*1120A>G)
c.1391A>G
c.2045A>G (p.Glu682Gly)
c.*1078A>G (n.*1078A>G)
c.965A>G (p.Glu322Gly)
c.677A>G (p.Glu226Gly)
c.2201A>G (p.Glu734Gly)
c.2003A>G (p.Glu668Gly)
c.1157A>G (p.Glu386Gly)
c.1112A>G (p.Glu371Gly)
c.944A>G (p.Glu315Gly)
c.818A>G (p.Glu273Gly)
12g.32625727A>TCA384367751FGD4c.1709A>T (p.Glu570Val)
c.1964A>T (p.Glu655Val)
c.1430A>T (p.Glu477Val)
c.521A>T (p.Glu174Val)
n.1216A>T
n.507A>T
c.2120A>T (p.Glu707Val)
c.*1101A>T (n.*1101A>T)
c.*1120A>T (n.*1120A>T)
c.1391A>T
c.2045A>T (p.Glu682Val)
c.*1078A>T (n.*1078A>T)
c.965A>T (p.Glu322Val)
c.677A>T (p.Glu226Val)
c.2201A>T (p.Glu734Val)
c.2003A>T (p.Glu668Val)
c.1157A>T (p.Glu386Val)
c.1112A>T (p.Glu371Val)
c.944A>T (p.Glu315Val)
c.818A>T (p.Glu273Val)
12g.32625728A>CCA384367759FGD4c.1710A>C (p.Glu570Asp)
c.1965A>C (p.Glu655Asp)
c.1431A>C (p.Glu477Asp)
c.522A>C (p.Glu174Asp)
n.1217A>C
n.508A>C
c.2121A>C (p.Glu707Asp)
c.*1102A>C (n.*1102A>C)
c.*1121A>C (n.*1121A>C)
c.1392A>C
c.2046A>C (p.Glu682Asp)
c.*1079A>C (n.*1079A>C)
c.966A>C (p.Glu322Asp)
c.678A>C (p.Glu226Asp)
c.2202A>C (p.Glu734Asp)
c.2004A>C (p.Glu668Asp)
c.1158A>C (p.Glu386Asp)
c.1113A>C (p.Glu371Asp)
c.945A>C (p.Glu315Asp)
c.819A>C (p.Glu273Asp)
12g.32625728A>GCA479169295FGD4c.1710A>G (p.Glu570=)
c.1965A>G (p.Glu655=)
c.1431A>G (p.Glu477=)
c.522A>G (p.Glu174=)
n.1217A>G
n.508A>G
c.2121A>G (p.Glu707=)
c.*1102A>G (n.*1102A>G)
c.*1121A>G (n.*1121A>G)
c.1392A>G
c.2046A>G (p.Glu682=)
c.*1079A>G (n.*1079A>G)
c.966A>G (p.Glu322=)
c.678A>G (p.Glu226=)
c.2202A>G (p.Glu734=)
c.2004A>G (p.Glu668=)
c.1158A>G (p.Glu386=)
c.1113A>G (p.Glu371=)
c.945A>G (p.Glu315=)
c.819A>G (p.Glu273=)
12g.32625728A>TCA384367758FGD4c.1710A>T (p.Glu570Asp)
c.1965A>T (p.Glu655Asp)
c.1431A>T (p.Glu477Asp)
c.522A>T (p.Glu174Asp)
n.1217A>T
n.508A>T
c.2121A>T (p.Glu707Asp)
c.*1102A>T (n.*1102A>T)
c.*1121A>T (n.*1121A>T)
c.1392A>T
c.2046A>T (p.Glu682Asp)
c.*1079A>T (n.*1079A>T)
c.966A>T (p.Glu322Asp)
c.678A>T (p.Glu226Asp)
c.2202A>T (p.Glu734Asp)
c.2004A>T (p.Glu668Asp)
c.1158A>T (p.Glu386Asp)
c.1113A>T (p.Glu371Asp)
c.945A>T (p.Glu315Asp)
c.819A>T (p.Glu273Asp)
 gnomAD v4
12g.32625729C>ACA346829FGD4c.1711C>A (p.Pro571Thr)
c.1966C>A (p.Pro656Thr)
c.1432C>A (p.Pro478Thr)
c.523C>A (p.Pro175Thr)
n.1218C>A
n.509C>A
c.2122C>A (p.Pro708Thr)
c.*1103C>A (n.*1103C>A)
c.*1122C>A (n.*1122C>A)
c.1393C>A
c.2047C>A (p.Pro683Thr)
c.*1080C>A (n.*1080C>A)
c.967C>A (p.Pro323Thr)
c.679C>A (p.Pro227Thr)
c.2203C>A (p.Pro735Thr)
c.2005C>A (p.Pro669Thr)
c.1159C>A (p.Pro387Thr)
c.1114C>A (p.Pro372Thr)
c.946C>A (p.Pro316Thr)
c.820C>A (p.Pro274Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625729C=CA2026243978FGD4c.1711C= (p.Pro571=)
c.1966C= (p.Pro656=)
c.1432C= (p.Pro478=)
c.523C= (p.Pro175=)
n.1218C=
n.509C=
c.2122C= (p.Pro708=)
c.*1103C= (n.*1103C=)
c.*1122C= (n.*1122C=)
c.1393C=
c.2047C= (p.Pro683=)
c.*1080C= (n.*1080C=)
c.967C= (p.Pro323=)
c.679C= (p.Pro227=)
c.2203C= (p.Pro735=)
c.2005C= (p.Pro669=)
c.1159C= (p.Pro387=)
c.1114C= (p.Pro372=)
c.946C= (p.Pro316=)
c.820C= (p.Pro274=)
12g.32625729C>GCA6506987FGD4c.1711C>G (p.Pro571Ala)
c.1966C>G (p.Pro656Ala)
c.1432C>G (p.Pro478Ala)
c.523C>G (p.Pro175Ala)
n.1218C>G
n.509C>G
c.2122C>G (p.Pro708Ala)
c.*1103C>G (n.*1103C>G)
c.*1122C>G (n.*1122C>G)
c.1393C>G
c.2047C>G (p.Pro683Ala)
c.*1080C>G (n.*1080C>G)
c.967C>G (p.Pro323Ala)
c.679C>G (p.Pro227Ala)
c.2203C>G (p.Pro735Ala)
c.2005C>G (p.Pro669Ala)
c.1159C>G (p.Pro387Ala)
c.1114C>G (p.Pro372Ala)
c.946C>G (p.Pro316Ala)
c.820C>G (p.Pro274Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625729C>TCA6506988FGD4c.1711C>T (p.Pro571Ser)
c.1966C>T (p.Pro656Ser)
c.1432C>T (p.Pro478Ser)
c.523C>T (p.Pro175Ser)
n.1218C>T
n.509C>T
c.2122C>T (p.Pro708Ser)
c.*1103C>T (n.*1103C>T)
c.*1122C>T (n.*1122C>T)
c.1393C>T
c.2047C>T (p.Pro683Ser)
c.*1080C>T (n.*1080C>T)
c.967C>T (p.Pro323Ser)
c.679C>T (p.Pro227Ser)
c.2203C>T (p.Pro735Ser)
c.2005C>T (p.Pro669Ser)
c.1159C>T (p.Pro387Ser)
c.1114C>T (p.Pro372Ser)
c.946C>T (p.Pro316Ser)
c.820C>T (p.Pro274Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625730delCA2618193112FGD4c.1712del (p.Pro571LeufsTer5)
c.1967del (p.Pro656LeufsTer5)
c.1433del (p.Pro478LeufsTer5)
c.524del (p.Pro175LeufsTer5)
n.1219del
n.510del
c.2123del (p.Pro708LeufsTer5)
c.*1104del (n.*1104del)
c.*1123del (n.*1123del)
c.1394del
c.2048del (p.Pro683LeufsTer5)
c.*1081del (n.*1081del)
c.968del (p.Pro323LeufsTer5)
c.680del (p.Pro227LeufsTer5)
c.2204del (p.Pro735LeufsTer5)
c.2006del (p.Pro669LeufsTer5)
c.1160del (p.Pro387LeufsTer5)
c.1115del (p.Pro372LeufsTer5)
c.947del (p.Pro316LeufsTer5)
c.821del (p.Pro274LeufsTer5)
 gnomAD v4
12g.32625730C>ACA6506989FGD4c.1712C>A (p.Pro571His)
c.1967C>A (p.Pro656His)
c.1433C>A (p.Pro478His)
c.524C>A (p.Pro175His)
n.1219C>A
n.510C>A
c.2123C>A (p.Pro708His)
c.*1104C>A (n.*1104C>A)
c.*1123C>A (n.*1123C>A)
c.1394C>A
c.2048C>A (p.Pro683His)
c.*1081C>A (n.*1081C>A)
c.968C>A (p.Pro323His)
c.680C>A (p.Pro227His)
c.2204C>A (p.Pro735His)
c.2006C>A (p.Pro669His)
c.1160C>A (p.Pro387His)
c.1115C>A (p.Pro372His)
c.947C>A (p.Pro316His)
c.821C>A (p.Pro274His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625730C=CA2026243989FGD4c.1712C= (p.Pro571=)
c.1967C= (p.Pro656=)
c.1433C= (p.Pro478=)
c.524C= (p.Pro175=)
n.1219C=
n.510C=
c.2123C= (p.Pro708=)
c.*1104C= (n.*1104C=)
c.*1123C= (n.*1123C=)
c.1394C=
c.2048C= (p.Pro683=)
c.*1081C= (n.*1081C=)
c.968C= (p.Pro323=)
c.680C= (p.Pro227=)
c.2204C= (p.Pro735=)
c.2006C= (p.Pro669=)
c.1160C= (p.Pro387=)
c.1115C= (p.Pro372=)
c.947C= (p.Pro316=)
c.821C= (p.Pro274=)
12g.32625730C>GCA384367766FGD4c.1712C>G (p.Pro571Arg)
c.1967C>G (p.Pro656Arg)
c.1433C>G (p.Pro478Arg)
c.524C>G (p.Pro175Arg)
n.1219C>G
n.510C>G
c.2123C>G (p.Pro708Arg)
c.*1104C>G (n.*1104C>G)
c.*1123C>G (n.*1123C>G)
c.1394C>G
c.2048C>G (p.Pro683Arg)
c.*1081C>G (n.*1081C>G)
c.968C>G (p.Pro323Arg)
c.680C>G (p.Pro227Arg)
c.2204C>G (p.Pro735Arg)
c.2006C>G (p.Pro669Arg)
c.1160C>G (p.Pro387Arg)
c.1115C>G (p.Pro372Arg)
c.947C>G (p.Pro316Arg)
c.821C>G (p.Pro274Arg)
 gnomAD v4
12g.32625730C>TCA6506990FGD4c.1712C>T (p.Pro571Leu)
c.1967C>T (p.Pro656Leu)
c.1433C>T (p.Pro478Leu)
c.524C>T (p.Pro175Leu)
n.1219C>T
n.510C>T
c.2123C>T (p.Pro708Leu)
c.*1104C>T (n.*1104C>T)
c.*1123C>T (n.*1123C>T)
c.1394C>T
c.2048C>T (p.Pro683Leu)
c.*1081C>T (n.*1081C>T)
c.968C>T (p.Pro323Leu)
c.680C>T (p.Pro227Leu)
c.2204C>T (p.Pro735Leu)
c.2006C>T (p.Pro669Leu)
c.1160C>T (p.Pro387Leu)
c.1115C>T (p.Pro372Leu)
c.947C>T (p.Pro316Leu)
c.821C>T (p.Pro274Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625731T>ACA479169298FGD4c.1713T>A (p.Pro571=)
c.1968T>A (p.Pro656=)
c.1434T>A (p.Pro478=)
c.525T>A (p.Pro175=)
n.1220T>A
n.511T>A
c.2124T>A (p.Pro708=)
c.*1105T>A (n.*1105T>A)
c.*1124T>A (n.*1124T>A)
c.1395T>A
c.2049T>A (p.Pro683=)
c.*1082T>A (n.*1082T>A)
c.969T>A (p.Pro323=)
c.681T>A (p.Pro227=)
c.2205T>A (p.Pro735=)
c.2007T>A (p.Pro669=)
c.1161T>A (p.Pro387=)
c.1116T>A (p.Pro372=)
c.948T>A (p.Pro316=)
c.822T>A (p.Pro274=)
12g.32625731T>CCA479169300FGD4c.1713T>C (p.Pro571=)
c.1968T>C (p.Pro656=)
c.1434T>C (p.Pro478=)
c.525T>C (p.Pro175=)
n.1220T>C
n.511T>C
c.2124T>C (p.Pro708=)
c.*1105T>C (n.*1105T>C)
c.*1124T>C (n.*1124T>C)
c.1395T>C
c.2049T>C (p.Pro683=)
c.*1082T>C (n.*1082T>C)
c.969T>C (p.Pro323=)
c.681T>C (p.Pro227=)
c.2205T>C (p.Pro735=)
c.2007T>C (p.Pro669=)
c.1161T>C (p.Pro387=)
c.1116T>C (p.Pro372=)
c.948T>C (p.Pro316=)
c.822T>C (p.Pro274=)
 gnomAD v4
12g.32625731T>GCA479169302FGD4c.1713T>G (p.Pro571=)
c.1968T>G (p.Pro656=)
c.1434T>G (p.Pro478=)
c.525T>G (p.Pro175=)
n.1220T>G
n.511T>G
c.2124T>G (p.Pro708=)
c.*1105T>G (n.*1105T>G)
c.*1124T>G (n.*1124T>G)
c.1395T>G
c.2049T>G (p.Pro683=)
c.*1082T>G (n.*1082T>G)
c.969T>G (p.Pro323=)
c.681T>G (p.Pro227=)
c.2205T>G (p.Pro735=)
c.2007T>G (p.Pro669=)
c.1161T>G (p.Pro387=)
c.1116T>G (p.Pro372=)
c.948T>G (p.Pro316=)
c.822T>G (p.Pro274=)
12g.32625732T>ACA384367784FGD4c.1714T>A (p.Phe572Ile)
c.1969T>A (p.Phe657Ile)
c.1435T>A (p.Phe479Ile)
c.526T>A (p.Phe176Ile)
n.1221T>A
n.512T>A
c.2125T>A (p.Phe709Ile)
c.*1106T>A (n.*1106T>A)
c.*1125T>A (n.*1125T>A)
c.1396T>A
c.2050T>A (p.Phe684Ile)
c.*1083T>A (n.*1083T>A)
c.970T>A (p.Phe324Ile)
c.682T>A (p.Phe228Ile)
c.2206T>A (p.Phe736Ile)
c.2008T>A (p.Phe670Ile)
c.1162T>A (p.Phe388Ile)
c.1117T>A (p.Phe373Ile)
c.949T>A (p.Phe317Ile)
c.823T>A (p.Phe275Ile)
12g.32625732T>CCA384367778FGD4c.1714T>C (p.Phe572Leu)
c.1969T>C (p.Phe657Leu)
c.1435T>C (p.Phe479Leu)
c.526T>C (p.Phe176Leu)
n.1221T>C
n.512T>C
c.2125T>C (p.Phe709Leu)
c.*1106T>C (n.*1106T>C)
c.*1125T>C (n.*1125T>C)
c.1396T>C
c.2050T>C (p.Phe684Leu)
c.*1083T>C (n.*1083T>C)
c.970T>C (p.Phe324Leu)
c.682T>C (p.Phe228Leu)
c.2206T>C (p.Phe736Leu)
c.2008T>C (p.Phe670Leu)
c.1162T>C (p.Phe388Leu)
c.1117T>C (p.Phe373Leu)
c.949T>C (p.Phe317Leu)
c.823T>C (p.Phe275Leu)
12g.32625732T>GCA384367781FGD4c.1714T>G (p.Phe572Val)
c.1969T>G (p.Phe657Val)
c.1435T>G (p.Phe479Val)
c.526T>G (p.Phe176Val)
n.1221T>G
n.512T>G
c.2125T>G (p.Phe709Val)
c.*1106T>G (n.*1106T>G)
c.*1125T>G (n.*1125T>G)
c.1396T>G
c.2050T>G (p.Phe684Val)
c.*1083T>G (n.*1083T>G)
c.970T>G (p.Phe324Val)
c.682T>G (p.Phe228Val)
c.2206T>G (p.Phe736Val)
c.2008T>G (p.Phe670Val)
c.1162T>G (p.Phe388Val)
c.1117T>G (p.Phe373Val)
c.949T>G (p.Phe317Val)
c.823T>G (p.Phe275Val)
12g.32625733T>ACA384367786FGD4c.1715T>A (p.Phe572Tyr)
c.1970T>A (p.Phe657Tyr)
c.1436T>A (p.Phe479Tyr)
c.527T>A (p.Phe176Tyr)
n.1222T>A
n.513T>A
c.2126T>A (p.Phe709Tyr)
c.*1107T>A (n.*1107T>A)
c.*1126T>A (n.*1126T>A)
c.1397T>A
c.2051T>A (p.Phe684Tyr)
c.*1084T>A (n.*1084T>A)
c.971T>A (p.Phe324Tyr)
c.683T>A (p.Phe228Tyr)
c.2207T>A (p.Phe736Tyr)
c.2009T>A (p.Phe670Tyr)
c.1163T>A (p.Phe388Tyr)
c.1118T>A (p.Phe373Tyr)
c.950T>A (p.Phe317Tyr)
c.824T>A (p.Phe275Tyr)
12g.32625733T>CCA384367794FGD4c.1715T>C (p.Phe572Ser)
c.1970T>C (p.Phe657Ser)
c.1436T>C (p.Phe479Ser)
c.527T>C (p.Phe176Ser)
n.1222T>C
n.513T>C
c.2126T>C (p.Phe709Ser)
c.*1107T>C (n.*1107T>C)
c.*1126T>C (n.*1126T>C)
c.1397T>C
c.2051T>C (p.Phe684Ser)
c.*1084T>C (n.*1084T>C)
c.971T>C (p.Phe324Ser)
c.683T>C (p.Phe228Ser)
c.2207T>C (p.Phe736Ser)
c.2009T>C (p.Phe670Ser)
c.1163T>C (p.Phe388Ser)
c.1118T>C (p.Phe373Ser)
c.950T>C (p.Phe317Ser)
c.824T>C (p.Phe275Ser)
 gnomAD v4
12g.32625733T>GCA384367796FGD4c.1715T>G (p.Phe572Cys)
c.1970T>G (p.Phe657Cys)
c.1436T>G (p.Phe479Cys)
c.527T>G (p.Phe176Cys)
n.1222T>G
n.513T>G
c.2126T>G (p.Phe709Cys)
c.*1107T>G (n.*1107T>G)
c.*1126T>G (n.*1126T>G)
c.1397T>G
c.2051T>G (p.Phe684Cys)
c.*1084T>G (n.*1084T>G)
c.971T>G (p.Phe324Cys)
c.683T>G (p.Phe228Cys)
c.2207T>G (p.Phe736Cys)
c.2009T>G (p.Phe670Cys)
c.1163T>G (p.Phe388Cys)
c.1118T>G (p.Phe373Cys)
c.950T>G (p.Phe317Cys)
c.824T>G (p.Phe275Cys)
12g.32625734C>ACA384367799FGD4c.1716C>A (p.Phe572Leu)
c.1971C>A (p.Phe657Leu)
c.1437C>A (p.Phe479Leu)
c.528C>A (p.Phe176Leu)
n.1223C>A
n.514C>A
c.2127C>A (p.Phe709Leu)
c.*1108C>A (n.*1108C>A)
c.*1127C>A (n.*1127C>A)
c.1398C>A
c.2052C>A (p.Phe684Leu)
c.*1085C>A (n.*1085C>A)
c.972C>A (p.Phe324Leu)
c.684C>A (p.Phe228Leu)
c.2208C>A (p.Phe736Leu)
c.2010C>A (p.Phe670Leu)
c.1164C>A (p.Phe388Leu)
c.1119C>A (p.Phe373Leu)
c.951C>A (p.Phe317Leu)
c.825C>A (p.Phe275Leu)
 gnomAD v4
12g.32625734C=CA2026243992FGD4c.1716C= (p.Phe572=)
c.1971C= (p.Phe657=)
c.1437C= (p.Phe479=)
c.528C= (p.Phe176=)
n.1223C=
n.514C=
c.2127C= (p.Phe709=)
c.*1108C= (n.*1108C=)
c.*1127C= (n.*1127C=)
c.1398C=
c.2052C= (p.Phe684=)
c.*1085C= (n.*1085C=)
c.972C= (p.Phe324=)
c.684C= (p.Phe228=)
c.2208C= (p.Phe736=)
c.2010C= (p.Phe670=)
c.1164C= (p.Phe388=)
c.1119C= (p.Phe373=)
c.951C= (p.Phe317=)
c.825C= (p.Phe275=)
12g.32625734C>GCA384367801FGD4c.1716C>G (p.Phe572Leu)
c.1971C>G (p.Phe657Leu)
c.1437C>G (p.Phe479Leu)
c.528C>G (p.Phe176Leu)
n.1223C>G
n.514C>G
c.2127C>G (p.Phe709Leu)
c.*1108C>G (n.*1108C>G)
c.*1127C>G (n.*1127C>G)
c.1398C>G
c.2052C>G (p.Phe684Leu)
c.*1085C>G (n.*1085C>G)
c.972C>G (p.Phe324Leu)
c.684C>G (p.Phe228Leu)
c.2208C>G (p.Phe736Leu)
c.2010C>G (p.Phe670Leu)
c.1164C>G (p.Phe388Leu)
c.1119C>G (p.Phe373Leu)
c.951C>G (p.Phe317Leu)
c.825C>G (p.Phe275Leu)
12g.32625734C>TCA479169305FGD4c.1716C>T (p.Phe572=)
c.1971C>T (p.Phe657=)
c.1437C>T (p.Phe479=)
c.528C>T (p.Phe176=)
n.1223C>T
n.514C>T
c.2127C>T (p.Phe709=)
c.*1108C>T (n.*1108C>T)
c.*1127C>T (n.*1127C>T)
c.1398C>T
c.2052C>T (p.Phe684=)
c.*1085C>T (n.*1085C>T)
c.972C>T (p.Phe324=)
c.684C>T (p.Phe228=)
c.2208C>T (p.Phe736=)
c.2010C>T (p.Phe670=)
c.1164C>T (p.Phe388=)
c.1119C>T (p.Phe373=)
c.951C>T (p.Phe317=)
c.825C>T (p.Phe275=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32625735A>CCA384367806FGD4c.1717A>C (p.Asn573His)
c.1972A>C (p.Asn658His)
c.1438A>C (p.Asn480His)
c.529A>C (p.Asn177His)
n.1224A>C
n.515A>C
c.2128A>C (p.Asn710His)
c.*1109A>C (n.*1109A>C)
c.*1128A>C (n.*1128A>C)
c.1399A>C
c.2053A>C (p.Asn685His)
c.*1086A>C (n.*1086A>C)
c.973A>C (p.Asn325His)
c.685A>C (p.Asn229His)
c.2209A>C (p.Asn737His)
c.2011A>C (p.Asn671His)
c.1165A>C (p.Asn389His)
c.1120A>C (p.Asn374His)
c.952A>C (p.Asn318His)
c.826A>C (p.Asn276His)
12g.32625735A>GCA384367809FGD4c.1717A>G (p.Asn573Asp)
c.1972A>G (p.Asn658Asp)
c.1438A>G (p.Asn480Asp)
c.529A>G (p.Asn177Asp)
n.1224A>G
n.515A>G
c.2128A>G (p.Asn710Asp)
c.*1109A>G (n.*1109A>G)
c.*1128A>G (n.*1128A>G)
c.1399A>G
c.2053A>G (p.Asn685Asp)
c.*1086A>G (n.*1086A>G)
c.973A>G (p.Asn325Asp)
c.685A>G (p.Asn229Asp)
c.2209A>G (p.Asn737Asp)
c.2011A>G (p.Asn671Asp)
c.1165A>G (p.Asn389Asp)
c.1120A>G (p.Asn374Asp)
c.952A>G (p.Asn318Asp)
c.826A>G (p.Asn276Asp)
12g.32625735A>TCA384367819FGD4c.1717A>T (p.Asn573Tyr)
c.1972A>T (p.Asn658Tyr)
c.1438A>T (p.Asn480Tyr)
c.529A>T (p.Asn177Tyr)
n.1224A>T
n.515A>T
c.2128A>T (p.Asn710Tyr)
c.*1109A>T (n.*1109A>T)
c.*1128A>T (n.*1128A>T)
c.1399A>T
c.2053A>T (p.Asn685Tyr)
c.*1086A>T (n.*1086A>T)
c.973A>T (p.Asn325Tyr)
c.685A>T (p.Asn229Tyr)
c.2209A>T (p.Asn737Tyr)
c.2011A>T (p.Asn671Tyr)
c.1165A>T (p.Asn389Tyr)
c.1120A>T (p.Asn374Tyr)
c.952A>T (p.Asn318Tyr)
c.826A>T (p.Asn276Tyr)
12g.32625736A>CCA384367821FGD4c.1718A>C (p.Asn573Thr)
c.1973A>C (p.Asn658Thr)
c.1439A>C (p.Asn480Thr)
c.530A>C (p.Asn177Thr)
n.1225A>C
n.516A>C
c.2129A>C (p.Asn710Thr)
c.*1110A>C (n.*1110A>C)
c.*1129A>C (n.*1129A>C)
c.1400A>C
c.2054A>C (p.Asn685Thr)
c.*1087A>C (n.*1087A>C)
c.974A>C (p.Asn325Thr)
c.686A>C (p.Asn229Thr)
c.2210A>C (p.Asn737Thr)
c.2012A>C (p.Asn671Thr)
c.1166A>C (p.Asn389Thr)
c.1121A>C (p.Asn374Thr)
c.953A>C (p.Asn318Thr)
c.827A>C (p.Asn276Thr)
12g.32625736A>GCA384367822FGD4c.1718A>G (p.Asn573Ser)
c.1973A>G (p.Asn658Ser)
c.1439A>G (p.Asn480Ser)
c.530A>G (p.Asn177Ser)
n.1225A>G
n.516A>G
c.2129A>G (p.Asn710Ser)
c.*1110A>G (n.*1110A>G)
c.*1129A>G (n.*1129A>G)
c.1400A>G
c.2054A>G (p.Asn685Ser)
c.*1087A>G (n.*1087A>G)
c.974A>G (p.Asn325Ser)
c.686A>G (p.Asn229Ser)
c.2210A>G (p.Asn737Ser)
c.2012A>G (p.Asn671Ser)
c.1166A>G (p.Asn389Ser)
c.1121A>G (p.Asn374Ser)
c.953A>G (p.Asn318Ser)
c.827A>G (p.Asn276Ser)
 gnomAD v4
12g.32625736A>TCA384367823FGD4c.1718A>T (p.Asn573Ile)
c.1973A>T (p.Asn658Ile)
c.1439A>T (p.Asn480Ile)
c.530A>T (p.Asn177Ile)
n.1225A>T
n.516A>T
c.2129A>T (p.Asn710Ile)
c.*1110A>T (n.*1110A>T)
c.*1129A>T (n.*1129A>T)
c.1400A>T
c.2054A>T (p.Asn685Ile)
c.*1087A>T (n.*1087A>T)
c.974A>T (p.Asn325Ile)
c.686A>T (p.Asn229Ile)
c.2210A>T (p.Asn737Ile)
c.2012A>T (p.Asn671Ile)
c.1166A>T (p.Asn389Ile)
c.1121A>T (p.Asn374Ile)
c.953A>T (p.Asn318Ile)
c.827A>T (p.Asn276Ile)
 gnomAD v4
12g.32625737T>ACA384367825FGD4c.1719T>A (p.Asn573Lys)
c.1974T>A (p.Asn658Lys)
c.1440T>A (p.Asn480Lys)
c.531T>A (p.Asn177Lys)
n.1226T>A
n.517T>A
c.2130T>A (p.Asn710Lys)
c.*1111T>A (n.*1111T>A)
c.*1130T>A (n.*1130T>A)
c.1401T>A
c.2055T>A (p.Asn685Lys)
c.*1088T>A (n.*1088T>A)
c.975T>A (p.Asn325Lys)
c.687T>A (p.Asn229Lys)
c.2211T>A (p.Asn737Lys)
c.2013T>A (p.Asn671Lys)
c.1167T>A (p.Asn389Lys)
c.1122T>A (p.Asn374Lys)
c.954T>A (p.Asn318Lys)
c.828T>A (p.Asn276Lys)
12g.32625737T>CCA479169310FGD4c.1719T>C (p.Asn573=)
c.1974T>C (p.Asn658=)
c.1440T>C (p.Asn480=)
c.531T>C (p.Asn177=)
n.1226T>C
n.517T>C
c.2130T>C (p.Asn710=)
c.*1111T>C (n.*1111T>C)
c.*1130T>C (n.*1130T>C)
c.1401T>C
c.2055T>C (p.Asn685=)
c.*1088T>C (n.*1088T>C)
c.975T>C (p.Asn325=)
c.687T>C (p.Asn229=)
c.2211T>C (p.Asn737=)
c.2013T>C (p.Asn671=)
c.1167T>C (p.Asn389=)
c.1122T>C (p.Asn374=)
c.954T>C (p.Asn318=)
c.828T>C (p.Asn276=)
 ClinVar dbSNP gnomAD v4
12g.32625737T>GCA384367826FGD4c.1719T>G (p.Asn573Lys)
c.1974T>G (p.Asn658Lys)
c.1440T>G (p.Asn480Lys)
c.531T>G (p.Asn177Lys)
n.1226T>G
n.517T>G
c.2130T>G (p.Asn710Lys)
c.*1111T>G (n.*1111T>G)
c.*1130T>G (n.*1130T>G)
c.1401T>G
c.2055T>G (p.Asn685Lys)
c.*1088T>G (n.*1088T>G)
c.975T>G (p.Asn325Lys)
c.687T>G (p.Asn229Lys)
c.2211T>G (p.Asn737Lys)
c.2013T>G (p.Asn671Lys)
c.1167T>G (p.Asn389Lys)
c.1122T>G (p.Asn374Lys)
c.954T>G (p.Asn318Lys)
c.828T>G (p.Asn276Lys)
12g.32625737T=CA2026243998FGD4c.1719T= (p.Asn573=)
c.1974T= (p.Asn658=)
c.1440T= (p.Asn480=)
c.531T= (p.Asn177=)
n.1226T=
n.517T=
c.2130T= (p.Asn710=)
c.*1111T= (n.*1111T=)
c.*1130T= (n.*1130T=)
c.1401T=
c.2055T= (p.Asn685=)
c.*1088T= (n.*1088T=)
c.975T= (p.Asn325=)
c.687T= (p.Asn229=)
c.2211T= (p.Asn737=)
c.2013T= (p.Asn671=)
c.1167T= (p.Asn389=)
c.1122T= (p.Asn374=)
c.954T= (p.Asn318=)
c.828T= (p.Asn276=)
12g.32625738G>ACA384367840FGD4c.1720G>A (p.Ala574Thr)
c.1975G>A (p.Ala659Thr)
c.1441G>A (p.Ala481Thr)
c.532G>A (p.Ala178Thr)
n.1227G>A
n.518G>A
c.2131G>A (p.Ala711Thr)
c.*1112G>A (n.*1112G>A)
c.*1131G>A (n.*1131G>A)
c.1402G>A
c.2056G>A (p.Ala686Thr)
c.*1089G>A (n.*1089G>A)
c.976G>A (p.Ala326Thr)
c.688G>A (p.Ala230Thr)
c.2212G>A (p.Ala738Thr)
c.2014G>A (p.Ala672Thr)
c.1168G>A (p.Ala390Thr)
c.1123G>A (p.Ala375Thr)
c.955G>A (p.Ala319Thr)
c.829G>A (p.Ala277Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.32625738G>CCA384367846FGD4c.1720G>C (p.Ala574Pro)
c.1975G>C (p.Ala659Pro)
c.1441G>C (p.Ala481Pro)
c.532G>C (p.Ala178Pro)
n.1227G>C
n.518G>C
c.2131G>C (p.Ala711Pro)
c.*1112G>C (n.*1112G>C)
c.*1131G>C (n.*1131G>C)
c.1402G>C
c.2056G>C (p.Ala686Pro)
c.*1089G>C (n.*1089G>C)
c.976G>C (p.Ala326Pro)
c.688G>C (p.Ala230Pro)
c.2212G>C (p.Ala738Pro)
c.2014G>C (p.Ala672Pro)
c.1168G>C (p.Ala390Pro)
c.1123G>C (p.Ala375Pro)
c.955G>C (p.Ala319Pro)
c.829G>C (p.Ala277Pro)
12g.32625738G=CA2026244002FGD4c.1720G= (p.Ala574=)
c.1975G= (p.Ala659=)
c.1441G= (p.Ala481=)
c.532G= (p.Ala178=)
n.1227G=
n.518G=
c.2131G= (p.Ala711=)
c.*1112G= (n.*1112G=)
c.*1131G= (n.*1131G=)
c.1402G=
c.2056G= (p.Ala686=)
c.*1089G= (n.*1089G=)
c.976G= (p.Ala326=)
c.688G= (p.Ala230=)
c.2212G= (p.Ala738=)
c.2014G= (p.Ala672=)
c.1168G= (p.Ala390=)
c.1123G= (p.Ala375=)
c.955G= (p.Ala319=)
c.829G= (p.Ala277=)
12g.32625738G>TCA384367843FGD4c.1720G>T (p.Ala574Ser)
c.1975G>T (p.Ala659Ser)
c.1441G>T (p.Ala481Ser)
c.532G>T (p.Ala178Ser)
n.1227G>T
n.518G>T
c.2131G>T (p.Ala711Ser)
c.*1112G>T (n.*1112G>T)
c.*1131G>T (n.*1131G>T)
c.1402G>T
c.2056G>T (p.Ala686Ser)
c.*1089G>T (n.*1089G>T)
c.976G>T (p.Ala326Ser)
c.688G>T (p.Ala230Ser)
c.2212G>T (p.Ala738Ser)
c.2014G>T (p.Ala672Ser)
c.1168G>T (p.Ala390Ser)
c.1123G>T (p.Ala375Ser)
c.955G>T (p.Ala319Ser)
c.829G>T (p.Ala277Ser)
12g.32625739C>ACA384367849FGD4c.1721C>A (p.Ala574Glu)
c.1976C>A (p.Ala659Glu)
c.1442C>A (p.Ala481Glu)
c.533C>A (p.Ala178Glu)
n.1228C>A
n.519C>A
c.2132C>A (p.Ala711Glu)
c.*1113C>A (n.*1113C>A)
c.*1132C>A (n.*1132C>A)
c.1403C>A
c.2057C>A (p.Ala686Glu)
c.*1090C>A (n.*1090C>A)
c.977C>A (p.Ala326Glu)
c.689C>A (p.Ala230Glu)
c.2213C>A (p.Ala738Glu)
c.2015C>A (p.Ala672Glu)
c.1169C>A (p.Ala390Glu)
c.1124C>A (p.Ala375Glu)
c.956C>A (p.Ala319Glu)
c.830C>A (p.Ala277Glu)
12g.32625739C=CA2026244011FGD4c.1721C= (p.Ala574=)
c.1976C= (p.Ala659=)
c.1442C= (p.Ala481=)
c.533C= (p.Ala178=)
n.1228C=
n.519C=
c.2132C= (p.Ala711=)
c.*1113C= (n.*1113C=)
c.*1132C= (n.*1132C=)
c.1403C=
c.2057C= (p.Ala686=)
c.*1090C= (n.*1090C=)
c.977C= (p.Ala326=)
c.689C= (p.Ala230=)
c.2213C= (p.Ala738=)
c.2015C= (p.Ala672=)
c.1169C= (p.Ala390=)
c.1124C= (p.Ala375=)
c.956C= (p.Ala319=)
c.830C= (p.Ala277=)
12g.32625739C>GCA384367852FGD4c.1721C>G (p.Ala574Gly)
c.1976C>G (p.Ala659Gly)
c.1442C>G (p.Ala481Gly)
c.533C>G (p.Ala178Gly)
n.1228C>G
n.519C>G
c.2132C>G (p.Ala711Gly)
c.*1113C>G (n.*1113C>G)
c.*1132C>G (n.*1132C>G)
c.1403C>G
c.2057C>G (p.Ala686Gly)
c.*1090C>G (n.*1090C>G)
c.977C>G (p.Ala326Gly)
c.689C>G (p.Ala230Gly)
c.2213C>G (p.Ala738Gly)
c.2015C>G (p.Ala672Gly)
c.1169C>G (p.Ala390Gly)
c.1124C>G (p.Ala375Gly)
c.956C>G (p.Ala319Gly)
c.830C>G (p.Ala277Gly)
12g.32625739C>TCA384367854FGD4c.1721C>T (p.Ala574Val)
c.1976C>T (p.Ala659Val)
c.1442C>T (p.Ala481Val)
c.533C>T (p.Ala178Val)
n.1228C>T
n.519C>T
c.2132C>T (p.Ala711Val)
c.*1113C>T (n.*1113C>T)
c.*1132C>T (n.*1132C>T)
c.1403C>T
c.2057C>T (p.Ala686Val)
c.*1090C>T (n.*1090C>T)
c.977C>T (p.Ala326Val)
c.689C>T (p.Ala230Val)
c.2213C>T (p.Ala738Val)
c.2015C>T (p.Ala672Val)
c.1169C>T (p.Ala390Val)
c.1124C>T (p.Ala375Val)
c.956C>T (p.Ala319Val)
c.830C>T (p.Ala277Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32625740A=CA2026244015FGD4c.1722A= (p.Ala574=)
c.1977A= (p.Ala659=)
c.1443A= (p.Ala481=)
c.534A= (p.Ala178=)
n.1229A=
n.520A=
c.2133A= (p.Ala711=)
c.*1114A= (n.*1114A=)
c.*1133A= (n.*1133A=)
c.1404A=
c.2058A= (p.Ala686=)
c.*1091A= (n.*1091A=)
c.978A= (p.Ala326=)
c.690A= (p.Ala230=)
c.2214A= (p.Ala738=)
c.2016A= (p.Ala672=)
c.1170A= (p.Ala390=)
c.1125A= (p.Ala375=)
c.957A= (p.Ala319=)
c.831A= (p.Ala277=)
12g.32625740A>CCA479169314FGD4c.1722A>C (p.Ala574=)
c.1977A>C (p.Ala659=)
c.1443A>C (p.Ala481=)
c.534A>C (p.Ala178=)
n.1229A>C
n.520A>C
c.2133A>C (p.Ala711=)
c.*1114A>C (n.*1114A>C)
c.*1133A>C (n.*1133A>C)
c.1404A>C
c.2058A>C (p.Ala686=)
c.*1091A>C (n.*1091A>C)
c.978A>C (p.Ala326=)
c.690A>C (p.Ala230=)
c.2214A>C (p.Ala738=)
c.2016A>C (p.Ala672=)
c.1170A>C (p.Ala390=)
c.1125A>C (p.Ala375=)
c.957A>C (p.Ala319=)
c.831A>C (p.Ala277=)
12g.32625740A>GCA6506991FGD4c.1722A>G (p.Ala574=)
c.1977A>G (p.Ala659=)
c.1443A>G (p.Ala481=)
c.534A>G (p.Ala178=)
n.1229A>G
n.520A>G
c.2133A>G (p.Ala711=)
c.*1114A>G (n.*1114A>G)
c.*1133A>G (n.*1133A>G)
c.1404A>G
c.2058A>G (p.Ala686=)
c.*1091A>G (n.*1091A>G)
c.978A>G (p.Ala326=)
c.690A>G (p.Ala230=)
c.2214A>G (p.Ala738=)
c.2016A>G (p.Ala672=)
c.1170A>G (p.Ala390=)
c.1125A>G (p.Ala375=)
c.957A>G (p.Ala319=)
c.831A>G (p.Ala277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625740A>TCA479169315FGD4c.1722A>T (p.Ala574=)
c.1977A>T (p.Ala659=)
c.1443A>T (p.Ala481=)
c.534A>T (p.Ala178=)
n.1229A>T
n.520A>T
c.2133A>T (p.Ala711=)
c.*1114A>T (n.*1114A>T)
c.*1133A>T (n.*1133A>T)
c.1404A>T
c.2058A>T (p.Ala686=)
c.*1091A>T (n.*1091A>T)
c.978A>T (p.Ala326=)
c.690A>T (p.Ala230=)
c.2214A>T (p.Ala738=)
c.2016A>T (p.Ala672=)
c.1170A>T (p.Ala390=)
c.1125A>T (p.Ala375=)
c.957A>T (p.Ala319=)
c.831A>T (p.Ala277=)
12g.32625741C>ACA384367861FGD4c.1723C>A (p.Leu575Met)
c.1978C>A (p.Leu660Met)
c.1444C>A (p.Leu482Met)
c.535C>A (p.Leu179Met)
n.1230C>A
n.521C>A
c.2134C>A (p.Leu712Met)
c.*1115C>A (n.*1115C>A)
c.*1134C>A (n.*1134C>A)
c.1405C>A
c.2059C>A (p.Leu687Met)
c.*1092C>A (n.*1092C>A)
c.979C>A (p.Leu327Met)
c.691C>A (p.Leu231Met)
c.2215C>A (p.Leu739Met)
c.2017C>A (p.Leu673Met)
c.1171C>A (p.Leu391Met)
c.1126C>A (p.Leu376Met)
c.958C>A (p.Leu320Met)
c.832C>A (p.Leu278Met)
12g.32625741C>GCA384367864FGD4c.1723C>G (p.Leu575Val)
c.1978C>G (p.Leu660Val)
c.1444C>G (p.Leu482Val)
c.535C>G (p.Leu179Val)
n.1230C>G
n.521C>G
c.2134C>G (p.Leu712Val)
c.*1115C>G (n.*1115C>G)
c.*1134C>G (n.*1134C>G)
c.1405C>G
c.2059C>G (p.Leu687Val)
c.*1092C>G (n.*1092C>G)
c.979C>G (p.Leu327Val)
c.691C>G (p.Leu231Val)
c.2215C>G (p.Leu739Val)
c.2017C>G (p.Leu673Val)
c.1171C>G (p.Leu391Val)
c.1126C>G (p.Leu376Val)
c.958C>G (p.Leu320Val)
c.832C>G (p.Leu278Val)
12g.32625741C>TCA479169317FGD4c.1723C>T (p.Leu575=)
c.1978C>T (p.Leu660=)
c.1444C>T (p.Leu482=)
c.535C>T (p.Leu179=)
n.1230C>T
n.521C>T
c.2134C>T (p.Leu712=)
c.*1115C>T (n.*1115C>T)
c.*1134C>T (n.*1134C>T)
c.1405C>T
c.2059C>T (p.Leu687=)
c.*1092C>T (n.*1092C>T)
c.979C>T (p.Leu327=)
c.691C>T (p.Leu231=)
c.2215C>T (p.Leu739=)
c.2017C>T (p.Leu673=)
c.1171C>T (p.Leu391=)
c.1126C>T (p.Leu376=)
c.958C>T (p.Leu320=)
c.832C>T (p.Leu278=)
12g.32625742T>ACA384367866FGD4c.1724T>A (p.Leu575Gln)
c.1979T>A (p.Leu660Gln)
c.1445T>A (p.Leu482Gln)
c.536T>A (p.Leu179Gln)
n.1231T>A
n.522T>A
c.2135T>A (p.Leu712Gln)
c.*1116T>A (n.*1116T>A)
c.*1135T>A (n.*1135T>A)
c.1406T>A
c.2060T>A (p.Leu687Gln)
c.*1093T>A (n.*1093T>A)
c.980T>A (p.Leu327Gln)
c.692T>A (p.Leu231Gln)
c.2216T>A (p.Leu739Gln)
c.2018T>A (p.Leu673Gln)
c.1172T>A (p.Leu391Gln)
c.1127T>A (p.Leu376Gln)
c.959T>A (p.Leu320Gln)
c.833T>A (p.Leu278Gln)
12g.32625742T>CCA384367870FGD4c.1724T>C (p.Leu575Pro)
c.1979T>C (p.Leu660Pro)
c.1445T>C (p.Leu482Pro)
c.536T>C (p.Leu179Pro)
n.1231T>C
n.522T>C
c.2135T>C (p.Leu712Pro)
c.*1116T>C (n.*1116T>C)
c.*1135T>C (n.*1135T>C)
c.1406T>C
c.2060T>C (p.Leu687Pro)
c.*1093T>C (n.*1093T>C)
c.980T>C (p.Leu327Pro)
c.692T>C (p.Leu231Pro)
c.2216T>C (p.Leu739Pro)
c.2018T>C (p.Leu673Pro)
c.1172T>C (p.Leu391Pro)
c.1127T>C (p.Leu376Pro)
c.959T>C (p.Leu320Pro)
c.833T>C (p.Leu278Pro)
 dbSNP
12g.32625742T>GCA384367875FGD4c.1724T>G (p.Leu575Arg)
c.1979T>G (p.Leu660Arg)
c.1445T>G (p.Leu482Arg)
c.536T>G (p.Leu179Arg)
n.1231T>G
n.522T>G
c.2135T>G (p.Leu712Arg)
c.*1116T>G (n.*1116T>G)
c.*1135T>G (n.*1135T>G)
c.1406T>G
c.2060T>G (p.Leu687Arg)
c.*1093T>G (n.*1093T>G)
c.980T>G (p.Leu327Arg)
c.692T>G (p.Leu231Arg)
c.2216T>G (p.Leu739Arg)
c.2018T>G (p.Leu673Arg)
c.1172T>G (p.Leu391Arg)
c.1127T>G (p.Leu376Arg)
c.959T>G (p.Leu320Arg)
c.833T>G (p.Leu278Arg)
12g.32625742T=CA2026244018FGD4c.1724T= (p.Leu575=)
c.1979T= (p.Leu660=)
c.1445T= (p.Leu482=)
c.536T= (p.Leu179=)
n.1231T=
n.522T=
c.2135T= (p.Leu712=)
c.*1116T= (n.*1116T=)
c.*1135T= (n.*1135T=)
c.1406T=
c.2060T= (p.Leu687=)
c.*1093T= (n.*1093T=)
c.980T= (p.Leu327=)
c.692T= (p.Leu231=)
c.2216T= (p.Leu739=)
c.2018T= (p.Leu673=)
c.1172T= (p.Leu391=)
c.1127T= (p.Leu376=)
c.959T= (p.Leu320=)
c.833T= (p.Leu278=)
12g.32625743G>ACA479169318FGD4c.1725G>A (p.Leu575=)
c.1980G>A (p.Leu660=)
c.1446G>A (p.Leu482=)
c.537G>A (p.Leu179=)
n.1232G>A
n.523G>A
c.2136G>A (p.Leu712=)
c.*1117G>A (n.*1117G>A)
c.*1136G>A (n.*1136G>A)
c.1407G>A
c.2061G>A (p.Leu687=)
c.*1094G>A (n.*1094G>A)
c.981G>A (p.Leu327=)
c.693G>A (p.Leu231=)
c.2217G>A (p.Leu739=)
c.2019G>A (p.Leu673=)
c.1173G>A (p.Leu391=)
c.1128G>A (p.Leu376=)
c.960G>A (p.Leu320=)
c.834G>A (p.Leu278=)
 gnomAD v4
12g.32625743G>CCA479169319FGD4c.1725G>C (p.Leu575=)
c.1980G>C (p.Leu660=)
c.1446G>C (p.Leu482=)
c.537G>C (p.Leu179=)
n.1232G>C
n.523G>C
c.2136G>C (p.Leu712=)
c.*1117G>C (n.*1117G>C)
c.*1136G>C (n.*1136G>C)
c.1407G>C
c.2061G>C (p.Leu687=)
c.*1094G>C (n.*1094G>C)
c.981G>C (p.Leu327=)
c.693G>C (p.Leu231=)
c.2217G>C (p.Leu739=)
c.2019G>C (p.Leu673=)
c.1173G>C (p.Leu391=)
c.1128G>C (p.Leu376=)
c.960G>C (p.Leu320=)
c.834G>C (p.Leu278=)
12g.32625743G>TCA479169321FGD4c.1725G>T (p.Leu575=)
c.1980G>T (p.Leu660=)
c.1446G>T (p.Leu482=)
c.537G>T (p.Leu179=)
n.1232G>T
n.523G>T
c.2136G>T (p.Leu712=)
c.*1117G>T (n.*1117G>T)
c.*1136G>T (n.*1136G>T)
c.1407G>T
c.2061G>T (p.Leu687=)
c.*1094G>T (n.*1094G>T)
c.981G>T (p.Leu327=)
c.693G>T (p.Leu231=)
c.2217G>T (p.Leu739=)
c.2019G>T (p.Leu673=)
c.1173G>T (p.Leu391=)
c.1128G>T (p.Leu376=)
c.960G>T (p.Leu320=)
c.834G>T (p.Leu278=)
12g.32625744A>CCA384367878FGD4c.1726A>C (p.Thr576Pro)
c.1981A>C (p.Thr661Pro)
c.1447A>C (p.Thr483Pro)
c.538A>C (p.Thr180Pro)
n.1233A>C
n.524A>C
c.2137A>C (p.Thr713Pro)
c.*1118A>C (n.*1118A>C)
c.*1137A>C (n.*1137A>C)
c.1408A>C
c.2062A>C (p.Thr688Pro)
c.*1095A>C (n.*1095A>C)
c.982A>C (p.Thr328Pro)
c.694A>C (p.Thr232Pro)
c.2218A>C (p.Thr740Pro)
c.2020A>C (p.Thr674Pro)
c.1174A>C (p.Thr392Pro)
c.1129A>C (p.Thr377Pro)
c.961A>C (p.Thr321Pro)
c.835A>C (p.Thr279Pro)
12g.32625744A>GCA384367880FGD4c.1726A>G (p.Thr576Ala)
c.1981A>G (p.Thr661Ala)
c.1447A>G (p.Thr483Ala)
c.538A>G (p.Thr180Ala)
n.1233A>G
n.524A>G
c.2137A>G (p.Thr713Ala)
c.*1118A>G (n.*1118A>G)
c.*1137A>G (n.*1137A>G)
c.1408A>G
c.2062A>G (p.Thr688Ala)
c.*1095A>G (n.*1095A>G)
c.982A>G (p.Thr328Ala)
c.694A>G (p.Thr232Ala)
c.2218A>G (p.Thr740Ala)
c.2020A>G (p.Thr674Ala)
c.1174A>G (p.Thr392Ala)
c.1129A>G (p.Thr377Ala)
c.961A>G (p.Thr321Ala)
c.835A>G (p.Thr279Ala)
12g.32625744A>TCA384367883FGD4c.1726A>T (p.Thr576Ser)
c.1981A>T (p.Thr661Ser)
c.1447A>T (p.Thr483Ser)
c.538A>T (p.Thr180Ser)
n.1233A>T
n.524A>T
c.2137A>T (p.Thr713Ser)
c.*1118A>T (n.*1118A>T)
c.*1137A>T (n.*1137A>T)
c.1408A>T
c.2062A>T (p.Thr688Ser)
c.*1095A>T (n.*1095A>T)
c.982A>T (p.Thr328Ser)
c.694A>T (p.Thr232Ser)
c.2218A>T (p.Thr740Ser)
c.2020A>T (p.Thr674Ser)
c.1174A>T (p.Thr392Ser)
c.1129A>T (p.Thr377Ser)
c.961A>T (p.Thr321Ser)
c.835A>T (p.Thr279Ser)
12g.32625745C>ACA384367892FGD4c.1727C>A (p.Thr576Lys)
c.1982C>A (p.Thr661Lys)
c.1448C>A (p.Thr483Lys)
c.539C>A (p.Thr180Lys)
n.1234C>A
n.525C>A
c.2138C>A (p.Thr713Lys)
c.*1119C>A (n.*1119C>A)
c.*1138C>A (n.*1138C>A)
c.1409C>A
c.2063C>A (p.Thr688Lys)
c.*1096C>A (n.*1096C>A)
c.983C>A (p.Thr328Lys)
c.695C>A (p.Thr232Lys)
c.2219C>A (p.Thr740Lys)
c.2021C>A (p.Thr674Lys)
c.1175C>A (p.Thr392Lys)
c.1130C>A (p.Thr377Lys)
c.962C>A (p.Thr321Lys)
c.836C>A (p.Thr279Lys)
12g.32625745C>GCA384367887FGD4c.1727C>G (p.Thr576Arg)
c.1982C>G (p.Thr661Arg)
c.1448C>G (p.Thr483Arg)
c.539C>G (p.Thr180Arg)
n.1234C>G
n.525C>G
c.2138C>G (p.Thr713Arg)
c.*1119C>G (n.*1119C>G)
c.*1138C>G (n.*1138C>G)
c.1409C>G
c.2063C>G (p.Thr688Arg)
c.*1096C>G (n.*1096C>G)
c.983C>G (p.Thr328Arg)
c.695C>G (p.Thr232Arg)
c.2219C>G (p.Thr740Arg)
c.2021C>G (p.Thr674Arg)
c.1175C>G (p.Thr392Arg)
c.1130C>G (p.Thr377Arg)
c.962C>G (p.Thr321Arg)
c.836C>G (p.Thr279Arg)
12g.32625745C>TCA384367889FGD4c.1727C>T (p.Thr576Ile)
c.1982C>T (p.Thr661Ile)
c.1448C>T (p.Thr483Ile)
c.539C>T (p.Thr180Ile)
n.1234C>T
n.525C>T
c.2138C>T (p.Thr713Ile)
c.*1119C>T (n.*1119C>T)
c.*1138C>T (n.*1138C>T)
c.1409C>T
c.2063C>T (p.Thr688Ile)
c.*1096C>T (n.*1096C>T)
c.983C>T (p.Thr328Ile)
c.695C>T (p.Thr232Ile)
c.2219C>T (p.Thr740Ile)
c.2021C>T (p.Thr674Ile)
c.1175C>T (p.Thr392Ile)
c.1130C>T (p.Thr377Ile)
c.962C>T (p.Thr321Ile)
c.836C>T (p.Thr279Ile)
12g.32625746A>CCA479169324FGD4c.1728A>C (p.Thr576=)
c.1983A>C (p.Thr661=)
c.1449A>C (p.Thr483=)
c.540A>C (p.Thr180=)
n.1235A>C
n.526A>C
c.2139A>C (p.Thr713=)
c.*1120A>C (n.*1120A>C)
c.*1139A>C (n.*1139A>C)
c.1410A>C
c.2064A>C (p.Thr688=)
c.*1097A>C (n.*1097A>C)
c.984A>C (p.Thr328=)
c.696A>C (p.Thr232=)
c.2220A>C (p.Thr740=)
c.2022A>C (p.Thr674=)
c.1176A>C (p.Thr392=)
c.1131A>C (p.Thr377=)
c.963A>C (p.Thr321=)
c.837A>C (p.Thr279=)
12g.32625746A>GCA479169325FGD4c.1728A>G (p.Thr576=)
c.1983A>G (p.Thr661=)
c.1449A>G (p.Thr483=)
c.540A>G (p.Thr180=)
n.1235A>G
n.526A>G
c.2139A>G (p.Thr713=)
c.*1120A>G (n.*1120A>G)
c.*1139A>G (n.*1139A>G)
c.1410A>G
c.2064A>G (p.Thr688=)
c.*1097A>G (n.*1097A>G)
c.984A>G (p.Thr328=)
c.696A>G (p.Thr232=)
c.2220A>G (p.Thr740=)
c.2022A>G (p.Thr674=)
c.1176A>G (p.Thr392=)
c.1131A>G (p.Thr377=)
c.963A>G (p.Thr321=)
c.837A>G (p.Thr279=)
12g.32625746A>TCA479169326FGD4c.1728A>T (p.Thr576=)
c.1983A>T (p.Thr661=)
c.1449A>T (p.Thr483=)
c.540A>T (p.Thr180=)
n.1235A>T
n.526A>T
c.2139A>T (p.Thr713=)
c.*1120A>T (n.*1120A>T)
c.*1139A>T (n.*1139A>T)
c.1410A>T
c.2064A>T (p.Thr688=)
c.*1097A>T (n.*1097A>T)
c.984A>T (p.Thr328=)
c.696A>T (p.Thr232=)
c.2220A>T (p.Thr740=)
c.2022A>T (p.Thr674=)
c.1176A>T (p.Thr392=)
c.1131A>T (p.Thr377=)
c.963A>T (p.Thr321=)
c.837A>T (p.Thr279=)
12g.32625747C>ACA479169329FGD4c.1729C>A (p.Arg577=)
c.1984C>A (p.Arg662=)
c.1450C>A (p.Arg484=)
c.541C>A (p.Arg181=)
n.1236C>A
n.527C>A
c.2140C>A (p.Arg714=)
c.*1121C>A (n.*1121C>A)
c.*1140C>A (n.*1140C>A)
c.1411C>A
c.2065C>A (p.Arg689=)
c.*1098C>A (n.*1098C>A)
c.985C>A (p.Arg329=)
c.697C>A (p.Arg233=)
c.2221C>A (p.Arg741=)
c.2023C>A (p.Arg675=)
c.1177C>A (p.Arg393=)
c.1132C>A (p.Arg378=)
c.964C>A (p.Arg322=)
c.838C>A (p.Arg280=)
12g.32625747C=CA2026244024FGD4c.1729C= (p.Arg577=)
c.1984C= (p.Arg662=)
c.1450C= (p.Arg484=)
c.541C= (p.Arg181=)
n.1236C=
n.527C=
c.2140C= (p.Arg714=)
c.*1121C= (n.*1121C=)
c.*1140C= (n.*1140C=)
c.1411C=
c.2065C= (p.Arg689=)
c.*1098C= (n.*1098C=)
c.985C= (p.Arg329=)
c.697C= (p.Arg233=)
c.2221C= (p.Arg741=)
c.2023C= (p.Arg675=)
c.1177C= (p.Arg393=)
c.1132C= (p.Arg378=)
c.964C= (p.Arg322=)
c.838C= (p.Arg280=)
12g.32625747C>GCA384367896FGD4c.1729C>G (p.Arg577Gly)
c.1984C>G (p.Arg662Gly)
c.1450C>G (p.Arg484Gly)
c.541C>G (p.Arg181Gly)
n.1236C>G
n.527C>G
c.2140C>G (p.Arg714Gly)
c.*1121C>G (n.*1121C>G)
c.*1140C>G (n.*1140C>G)
c.1411C>G
c.2065C>G (p.Arg689Gly)
c.*1098C>G (n.*1098C>G)
c.985C>G (p.Arg329Gly)
c.697C>G (p.Arg233Gly)
c.2221C>G (p.Arg741Gly)
c.2023C>G (p.Arg675Gly)
c.1177C>G (p.Arg393Gly)
c.1132C>G (p.Arg378Gly)
c.964C>G (p.Arg322Gly)
c.838C>G (p.Arg280Gly)
12g.32625747C>TCA6506992FGD4c.1729C>T (p.Arg577Ter)
c.1984C>T (p.Arg662Ter)
c.1450C>T (p.Arg484Ter)
c.541C>T (p.Arg181Ter)
n.1236C>T
n.527C>T
c.2140C>T (p.Arg714Ter)
c.*1121C>T (n.*1121C>T)
c.*1140C>T (n.*1140C>T)
c.1411C>T
c.2065C>T (p.Arg689Ter)
c.*1098C>T (n.*1098C>T)
c.985C>T (p.Arg329Ter)
c.697C>T (p.Arg233Ter)
c.2221C>T (p.Arg741Ter)
c.2023C>T (p.Arg675Ter)
c.1177C>T (p.Arg393Ter)
c.1132C>T (p.Arg378Ter)
c.964C>T (p.Arg322Ter)
c.838C>T (p.Arg280Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625748G>ACA235236266FGD4c.1730G>A (p.Arg577Gln)
c.1985G>A (p.Arg662Gln)
c.1451G>A (p.Arg484Gln)
c.542G>A (p.Arg181Gln)
n.1237G>A
n.528G>A
c.2141G>A (p.Arg714Gln)
c.*1122G>A (n.*1122G>A)
c.*1141G>A (n.*1141G>A)
c.1412G>A
c.2066G>A (p.Arg689Gln)
c.*1099G>A (n.*1099G>A)
c.986G>A (p.Arg329Gln)
c.698G>A (p.Arg233Gln)
c.2222G>A (p.Arg741Gln)
c.2024G>A (p.Arg675Gln)
c.1178G>A (p.Arg393Gln)
c.1133G>A (p.Arg378Gln)
c.965G>A (p.Arg322Gln)
c.839G>A (p.Arg280Gln)
 ClinVar dbSNP gnomAD v4
12g.32625748G>CCA384367908FGD4c.1730G>C (p.Arg577Pro)
c.1985G>C (p.Arg662Pro)
c.1451G>C (p.Arg484Pro)
c.542G>C (p.Arg181Pro)
n.1237G>C
n.528G>C
c.2141G>C (p.Arg714Pro)
c.*1122G>C (n.*1122G>C)
c.*1141G>C (n.*1141G>C)
c.1412G>C
c.2066G>C (p.Arg689Pro)
c.*1099G>C (n.*1099G>C)
c.986G>C (p.Arg329Pro)
c.698G>C (p.Arg233Pro)
c.2222G>C (p.Arg741Pro)
c.2024G>C (p.Arg675Pro)
c.1178G>C (p.Arg393Pro)
c.1133G>C (p.Arg378Pro)
c.965G>C (p.Arg322Pro)
c.839G>C (p.Arg280Pro)
12g.32625748G=CA2026244036FGD4c.1730G= (p.Arg577=)
c.1985G= (p.Arg662=)
c.1451G= (p.Arg484=)
c.542G= (p.Arg181=)
n.1237G=
n.528G=
c.2141G= (p.Arg714=)
c.*1122G= (n.*1122G=)
c.*1141G= (n.*1141G=)
c.1412G=
c.2066G= (p.Arg689=)
c.*1099G= (n.*1099G=)
c.986G= (p.Arg329=)
c.698G= (p.Arg233=)
c.2222G= (p.Arg741=)
c.2024G= (p.Arg675=)
c.1178G= (p.Arg393=)
c.1133G= (p.Arg378=)
c.965G= (p.Arg322=)
c.839G= (p.Arg280=)
12g.32625748G>TCA384367912FGD4c.1730G>T (p.Arg577Leu)
c.1985G>T (p.Arg662Leu)
c.1451G>T (p.Arg484Leu)
c.542G>T (p.Arg181Leu)
n.1237G>T
n.528G>T
c.2141G>T (p.Arg714Leu)
c.*1122G>T (n.*1122G>T)
c.*1141G>T (n.*1141G>T)
c.1412G>T
c.2066G>T (p.Arg689Leu)
c.*1099G>T (n.*1099G>T)
c.986G>T (p.Arg329Leu)
c.698G>T (p.Arg233Leu)
c.2222G>T (p.Arg741Leu)
c.2024G>T (p.Arg675Leu)
c.1178G>T (p.Arg393Leu)
c.1133G>T (p.Arg378Leu)
c.965G>T (p.Arg322Leu)
c.839G>T (p.Arg280Leu)
12g.32625749A>CCA479169330FGD4c.1731A>C (p.Arg577=)
c.1986A>C (p.Arg662=)
c.1452A>C (p.Arg484=)
c.543A>C (p.Arg181=)
n.1238A>C
n.529A>C
c.2142A>C (p.Arg714=)
c.*1123A>C (n.*1123A>C)
c.*1142A>C (n.*1142A>C)
c.1413A>C
c.2067A>C (p.Arg689=)
c.*1100A>C (n.*1100A>C)
c.987A>C (p.Arg329=)
c.699A>C (p.Arg233=)
c.2223A>C (p.Arg741=)
c.2025A>C (p.Arg675=)
c.1179A>C (p.Arg393=)
c.1134A>C (p.Arg378=)
c.966A>C (p.Arg322=)
c.840A>C (p.Arg280=)
12g.32625749A>GCA479169332FGD4c.1731A>G (p.Arg577=)
c.1986A>G (p.Arg662=)
c.1452A>G (p.Arg484=)
c.543A>G (p.Arg181=)
n.1238A>G
n.529A>G
c.2142A>G (p.Arg714=)
c.*1123A>G (n.*1123A>G)
c.*1142A>G (n.*1142A>G)
c.1413A>G
c.2067A>G (p.Arg689=)
c.*1100A>G (n.*1100A>G)
c.987A>G (p.Arg329=)
c.699A>G (p.Arg233=)
c.2223A>G (p.Arg741=)
c.2025A>G (p.Arg675=)
c.1179A>G (p.Arg393=)
c.1134A>G (p.Arg378=)
c.966A>G (p.Arg322=)
c.840A>G (p.Arg280=)
12g.32625749A>TCA479169331FGD4c.1731A>T (p.Arg577=)
c.1986A>T (p.Arg662=)
c.1452A>T (p.Arg484=)
c.543A>T (p.Arg181=)
n.1238A>T
n.529A>T
c.2142A>T (p.Arg714=)
c.*1123A>T (n.*1123A>T)
c.*1142A>T (n.*1142A>T)
c.1413A>T
c.2067A>T (p.Arg689=)
c.*1100A>T (n.*1100A>T)
c.987A>T (p.Arg329=)
c.699A>T (p.Arg233=)
c.2223A>T (p.Arg741=)
c.2025A>T (p.Arg675=)
c.1179A>T (p.Arg393=)
c.1134A>T (p.Arg378=)
c.966A>T (p.Arg322=)
c.840A>T (p.Arg280=)
12g.32625750A>CCA479169334FGD4c.1732A>C (p.Arg578=)
c.1987A>C (p.Arg663=)
c.1453A>C (p.Arg485=)
c.544A>C (p.Arg182=)
n.1239A>C
n.530A>C
c.2143A>C (p.Arg715=)
c.*1124A>C (n.*1124A>C)
c.*1143A>C (n.*1143A>C)
c.1414A>C
c.2068A>C (p.Arg690=)
c.*1101A>C (n.*1101A>C)
c.988A>C (p.Arg330=)
c.700A>C (p.Arg234=)
c.2224A>C (p.Arg742=)
c.2026A>C (p.Arg676=)
c.1180A>C (p.Arg394=)
c.1135A>C (p.Arg379=)
c.967A>C (p.Arg323=)
c.841A>C (p.Arg281=)
12g.32625750A>GCA384367918FGD4c.1732A>G (p.Arg578Gly)
c.1987A>G (p.Arg663Gly)
c.1453A>G (p.Arg485Gly)
c.544A>G (p.Arg182Gly)
n.1239A>G
n.530A>G
c.2143A>G (p.Arg715Gly)
c.*1124A>G (n.*1124A>G)
c.*1143A>G (n.*1143A>G)
c.1414A>G
c.2068A>G (p.Arg690Gly)
c.*1101A>G (n.*1101A>G)
c.988A>G (p.Arg330Gly)
c.700A>G (p.Arg234Gly)
c.2224A>G (p.Arg742Gly)
c.2026A>G (p.Arg676Gly)
c.1180A>G (p.Arg394Gly)
c.1135A>G (p.Arg379Gly)
c.967A>G (p.Arg323Gly)
c.841A>G (p.Arg281Gly)
12g.32625750A>TCA384367920FGD4c.1732A>T (p.Arg578Trp)
c.1987A>T (p.Arg663Trp)
c.1453A>T (p.Arg485Trp)
c.544A>T (p.Arg182Trp)
n.1239A>T
n.530A>T
c.2143A>T (p.Arg715Trp)
c.*1124A>T (n.*1124A>T)
c.*1143A>T (n.*1143A>T)
c.1414A>T
c.2068A>T (p.Arg690Trp)
c.*1101A>T (n.*1101A>T)
c.988A>T (p.Arg330Trp)
c.700A>T (p.Arg234Trp)
c.2224A>T (p.Arg742Trp)
c.2026A>T (p.Arg676Trp)
c.1180A>T (p.Arg394Trp)
c.1135A>T (p.Arg379Trp)
c.967A>T (p.Arg323Trp)
c.841A>T (p.Arg281Trp)
12g.32625751G>ACA384367925FGD4c.1733G>A (p.Arg578Lys)
c.1988G>A (p.Arg663Lys)
c.1454G>A (p.Arg485Lys)
c.545G>A (p.Arg182Lys)
n.1240G>A
n.531G>A
c.2144G>A (p.Arg715Lys)
c.*1125G>A (n.*1125G>A)
c.*1144G>A (n.*1144G>A)
c.1415G>A
c.2069G>A (p.Arg690Lys)
c.*1102G>A (n.*1102G>A)
c.989G>A (p.Arg330Lys)
c.701G>A (p.Arg234Lys)
c.2225G>A (p.Arg742Lys)
c.2027G>A (p.Arg676Lys)
c.1181G>A (p.Arg394Lys)
c.1136G>A (p.Arg379Lys)
c.968G>A (p.Arg323Lys)
c.842G>A (p.Arg281Lys)
12g.32625751G>CCA384367930FGD4c.1733G>C (p.Arg578Thr)
c.1988G>C (p.Arg663Thr)
c.1454G>C (p.Arg485Thr)
c.545G>C (p.Arg182Thr)
n.1240G>C
n.531G>C
c.2144G>C (p.Arg715Thr)
c.*1125G>C (n.*1125G>C)
c.*1144G>C (n.*1144G>C)
c.1415G>C
c.2069G>C (p.Arg690Thr)
c.*1102G>C (n.*1102G>C)
c.989G>C (p.Arg330Thr)
c.701G>C (p.Arg234Thr)
c.2225G>C (p.Arg742Thr)
c.2027G>C (p.Arg676Thr)
c.1181G>C (p.Arg394Thr)
c.1136G>C (p.Arg379Thr)
c.968G>C (p.Arg323Thr)
c.842G>C (p.Arg281Thr)
12g.32625751G>TCA384367944FGD4c.1733G>T (p.Arg578Met)
c.1988G>T (p.Arg663Met)
c.1454G>T (p.Arg485Met)
c.545G>T (p.Arg182Met)
n.1240G>T
n.531G>T
c.2144G>T (p.Arg715Met)
c.*1125G>T (n.*1125G>T)
c.*1144G>T (n.*1144G>T)
c.1415G>T
c.2069G>T (p.Arg690Met)
c.*1102G>T (n.*1102G>T)
c.989G>T (p.Arg330Met)
c.701G>T (p.Arg234Met)
c.2225G>T (p.Arg742Met)
c.2027G>T (p.Arg676Met)
c.1181G>T (p.Arg394Met)
c.1136G>T (p.Arg379Met)
c.968G>T (p.Arg323Met)
c.842G>T (p.Arg281Met)
12g.32625752G>ACA479169337FGD4c.1734G>A (p.Arg578=)
c.1989G>A (p.Arg663=)
c.1455G>A (p.Arg485=)
c.546G>A (p.Arg182=)
n.1241G>A
n.532G>A
c.2145G>A (p.Arg715=)
c.*1126G>A (n.*1126G>A)
c.*1145G>A (n.*1145G>A)
c.1416G>A
c.2070G>A (p.Arg690=)
c.*1103G>A (n.*1103G>A)
c.990G>A (p.Arg330=)
c.702G>A (p.Arg234=)
c.2226G>A (p.Arg742=)
c.2028G>A (p.Arg676=)
c.1182G>A (p.Arg394=)
c.1137G>A (p.Arg379=)
c.969G>A (p.Arg323=)
c.843G>A (p.Arg281=)
 COSMIC
12g.32625752G>CCA384367951FGD4c.1734G>C (p.Arg578Ser)
c.1989G>C (p.Arg663Ser)
c.1455G>C (p.Arg485Ser)
c.546G>C (p.Arg182Ser)
n.1241G>C
n.532G>C
c.2145G>C (p.Arg715Ser)
c.*1126G>C (n.*1126G>C)
c.*1145G>C (n.*1145G>C)
c.1416G>C
c.2070G>C (p.Arg690Ser)
c.*1103G>C (n.*1103G>C)
c.990G>C (p.Arg330Ser)
c.702G>C (p.Arg234Ser)
c.2226G>C (p.Arg742Ser)
c.2028G>C (p.Arg676Ser)
c.1182G>C (p.Arg394Ser)
c.1137G>C (p.Arg379Ser)
c.969G>C (p.Arg323Ser)
c.843G>C (p.Arg281Ser)
12g.32625752G>TCA384367954FGD4c.1734G>T (p.Arg578Ser)
c.1989G>T (p.Arg663Ser)
c.1455G>T (p.Arg485Ser)
c.546G>T (p.Arg182Ser)
n.1241G>T
n.532G>T
c.2145G>T (p.Arg715Ser)
c.*1126G>T (n.*1126G>T)
c.*1145G>T (n.*1145G>T)
c.1416G>T
c.2070G>T (p.Arg690Ser)
c.*1103G>T (n.*1103G>T)
c.990G>T (p.Arg330Ser)
c.702G>T (p.Arg234Ser)
c.2226G>T (p.Arg742Ser)
c.2028G>T (p.Arg676Ser)
c.1182G>T (p.Arg394Ser)
c.1137G>T (p.Arg379Ser)
c.969G>T (p.Arg323Ser)
c.843G>T (p.Arg281Ser)
12g.32625753A>CCA479169339FGD4c.1735A>C (p.Arg579=)
c.1990A>C (p.Arg664=)
c.1456A>C (p.Arg486=)
c.547A>C (p.Arg183=)
n.1242A>C
n.533A>C
c.2146A>C (p.Arg716=)
c.*1127A>C (n.*1127A>C)
c.*1146A>C (n.*1146A>C)
c.1417A>C
c.2071A>C (p.Arg691=)
c.*1104A>C (n.*1104A>C)
c.991A>C (p.Arg331=)
c.703A>C (p.Arg235=)
c.2227A>C (p.Arg743=)
c.2029A>C (p.Arg677=)
c.1183A>C (p.Arg395=)
c.1138A>C (p.Arg380=)
c.970A>C (p.Arg324=)
c.844A>C (p.Arg282=)
12g.32625753A>GCA384367955FGD4c.1735A>G (p.Arg579Gly)
c.1990A>G (p.Arg664Gly)
c.1456A>G (p.Arg486Gly)
c.547A>G (p.Arg183Gly)
n.1242A>G
n.533A>G
c.2146A>G (p.Arg716Gly)
c.*1127A>G (n.*1127A>G)
c.*1146A>G (n.*1146A>G)
c.1417A>G
c.2071A>G (p.Arg691Gly)
c.*1104A>G (n.*1104A>G)
c.991A>G (p.Arg331Gly)
c.703A>G (p.Arg235Gly)
c.2227A>G (p.Arg743Gly)
c.2029A>G (p.Arg677Gly)
c.1183A>G (p.Arg395Gly)
c.1138A>G (p.Arg380Gly)
c.970A>G (p.Arg324Gly)
c.844A>G (p.Arg282Gly)
12g.32625753A>TCA384367956FGD4c.1735A>T (p.Arg579Trp)
c.1990A>T (p.Arg664Trp)
c.1456A>T (p.Arg486Trp)
c.547A>T (p.Arg183Trp)
n.1242A>T
n.533A>T
c.2146A>T (p.Arg716Trp)
c.*1127A>T (n.*1127A>T)
c.*1146A>T (n.*1146A>T)
c.1417A>T
c.2071A>T (p.Arg691Trp)
c.*1104A>T (n.*1104A>T)
c.991A>T (p.Arg331Trp)
c.703A>T (p.Arg235Trp)
c.2227A>T (p.Arg743Trp)
c.2029A>T (p.Arg677Trp)
c.1183A>T (p.Arg395Trp)
c.1138A>T (p.Arg380Trp)
c.970A>T (p.Arg324Trp)
c.844A>T (p.Arg282Trp)
12g.32625754G>ACA384367957FGD4c.1736G>A (p.Arg579Lys)
c.1991G>A (p.Arg664Lys)
c.1457G>A (p.Arg486Lys)
c.548G>A (p.Arg183Lys)
n.1243G>A
n.534G>A
c.2147G>A (p.Arg716Lys)
c.*1128G>A (n.*1128G>A)
c.*1147G>A (n.*1147G>A)
c.1418G>A
c.2072G>A (p.Arg691Lys)
c.*1105G>A (n.*1105G>A)
c.992G>A (p.Arg331Lys)
c.704G>A (p.Arg235Lys)
c.2228G>A (p.Arg743Lys)
c.2030G>A (p.Arg677Lys)
c.1184G>A (p.Arg395Lys)
c.1139G>A (p.Arg380Lys)
c.971G>A (p.Arg324Lys)
c.845G>A (p.Arg282Lys)
12g.32625754G>CCA384367961FGD4c.1736G>C (p.Arg579Thr)
c.1991G>C (p.Arg664Thr)
c.1457G>C (p.Arg486Thr)
c.548G>C (p.Arg183Thr)
n.1243G>C
n.534G>C
c.2147G>C (p.Arg716Thr)
c.*1128G>C (n.*1128G>C)
c.*1147G>C (n.*1147G>C)
c.1418G>C
c.2072G>C (p.Arg691Thr)
c.*1105G>C (n.*1105G>C)
c.992G>C (p.Arg331Thr)
c.704G>C (p.Arg235Thr)
c.2228G>C (p.Arg743Thr)
c.2030G>C (p.Arg677Thr)
c.1184G>C (p.Arg395Thr)
c.1139G>C (p.Arg380Thr)
c.971G>C (p.Arg324Thr)
c.845G>C (p.Arg282Thr)
12g.32625754G>TCA384367959FGD4c.1736G>T (p.Arg579Met)
c.1991G>T (p.Arg664Met)
c.1457G>T (p.Arg486Met)
c.548G>T (p.Arg183Met)
n.1243G>T
n.534G>T
c.2147G>T (p.Arg716Met)
c.*1128G>T (n.*1128G>T)
c.*1147G>T (n.*1147G>T)
c.1418G>T
c.2072G>T (p.Arg691Met)
c.*1105G>T (n.*1105G>T)
c.992G>T (p.Arg331Met)
c.704G>T (p.Arg235Met)
c.2228G>T (p.Arg743Met)
c.2030G>T (p.Arg677Met)
c.1184G>T (p.Arg395Met)
c.1139G>T (p.Arg380Met)
c.971G>T (p.Arg324Met)
c.845G>T (p.Arg282Met)
12g.32625755G>ACA6506993FGD4c.1737G>A (p.Arg579=)
c.1992G>A (p.Arg664=)
c.1458G>A (p.Arg486=)
c.549G>A (p.Arg183=)
n.1244G>A
n.535G>A
c.2148G>A (p.Arg716=)
c.*1129G>A (n.*1129G>A)
c.*1148G>A (n.*1148G>A)
c.1419G>A
c.2073G>A (p.Arg691=)
c.*1106G>A (n.*1106G>A)
c.993G>A (p.Arg331=)
c.705G>A (p.Arg235=)
c.2229G>A (p.Arg743=)
c.2031G>A (p.Arg677=)
c.1185G>A (p.Arg395=)
c.1140G>A (p.Arg380=)
c.972G>A (p.Arg324=)
c.846G>A (p.Arg282=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625755G>CCA384367974FGD4c.1737G>C (p.Arg579Ser)
c.1992G>C (p.Arg664Ser)
c.1458G>C (p.Arg486Ser)
c.549G>C (p.Arg183Ser)
n.1244G>C
n.535G>C
c.2148G>C (p.Arg716Ser)
c.*1129G>C (n.*1129G>C)
c.*1148G>C (n.*1148G>C)
c.1419G>C
c.2073G>C (p.Arg691Ser)
c.*1106G>C (n.*1106G>C)
c.993G>C (p.Arg331Ser)
c.705G>C (p.Arg235Ser)
c.2229G>C (p.Arg743Ser)
c.2031G>C (p.Arg677Ser)
c.1185G>C (p.Arg395Ser)
c.1140G>C (p.Arg380Ser)
c.972G>C (p.Arg324Ser)
c.846G>C (p.Arg282Ser)
12g.32625755G=CA2026244045FGD4c.1737G= (p.Arg579=)
c.1992G= (p.Arg664=)
c.1458G= (p.Arg486=)
c.549G= (p.Arg183=)
n.1244G=
n.535G=
c.2148G= (p.Arg716=)
c.*1129G= (n.*1129G=)
c.*1148G= (n.*1148G=)
c.1419G=
c.2073G= (p.Arg691=)
c.*1106G= (n.*1106G=)
c.993G= (p.Arg331=)
c.705G= (p.Arg235=)
c.2229G= (p.Arg743=)
c.2031G= (p.Arg677=)
c.1185G= (p.Arg395=)
c.1140G= (p.Arg380=)
c.972G= (p.Arg324=)
c.846G= (p.Arg282=)
12g.32625755G>TCA384367966FGD4c.1737G>T (p.Arg579Ser)
c.1992G>T (p.Arg664Ser)
c.1458G>T (p.Arg486Ser)
c.549G>T (p.Arg183Ser)
n.1244G>T
n.535G>T
c.2148G>T (p.Arg716Ser)
c.*1129G>T (n.*1129G>T)
c.*1148G>T (n.*1148G>T)
c.1419G>T
c.2073G>T (p.Arg691Ser)
c.*1106G>T (n.*1106G>T)
c.993G>T (p.Arg331Ser)
c.705G>T (p.Arg235Ser)
c.2229G>T (p.Arg743Ser)
c.2031G>T (p.Arg677Ser)
c.1185G>T (p.Arg395Ser)
c.1140G>T (p.Arg380Ser)
c.972G>T (p.Arg324Ser)
c.846G>T (p.Arg282Ser)
12g.32625756C>ACA384367977FGD4c.1738C>A (p.His580Asn)
c.1993C>A (p.His665Asn)
c.1459C>A (p.His487Asn)
c.550C>A (p.His184Asn)
n.1245C>A
n.536C>A
c.2149C>A (p.His717Asn)
c.*1130C>A (n.*1130C>A)
c.*1149C>A (n.*1149C>A)
c.1420C>A
c.2074C>A (p.His692Asn)
c.*1107C>A (n.*1107C>A)
c.994C>A (p.His332Asn)
c.706C>A (p.His236Asn)
c.2230C>A (p.His744Asn)
c.2032C>A (p.His678Asn)
c.1186C>A (p.His396Asn)
c.1141C>A (p.His381Asn)
c.973C>A (p.His325Asn)
c.847C>A (p.His283Asn)
12g.32625756C>GCA384368000FGD4c.1738C>G (p.His580Asp)
c.1993C>G (p.His665Asp)
c.1459C>G (p.His487Asp)
c.550C>G (p.His184Asp)
n.1245C>G
n.536C>G
c.2149C>G (p.His717Asp)
c.*1130C>G (n.*1130C>G)
c.*1149C>G (n.*1149C>G)
c.1420C>G
c.2074C>G (p.His692Asp)
c.*1107C>G (n.*1107C>G)
c.994C>G (p.His332Asp)
c.706C>G (p.His236Asp)
c.2230C>G (p.His744Asp)
c.2032C>G (p.His678Asp)
c.1186C>G (p.His396Asp)
c.1141C>G (p.His381Asp)
c.973C>G (p.His325Asp)
c.847C>G (p.His283Asp)
12g.32625756C>TCA384367988FGD4c.1738C>T (p.His580Tyr)
c.1993C>T (p.His665Tyr)
c.1459C>T (p.His487Tyr)
c.550C>T (p.His184Tyr)
n.1245C>T
n.536C>T
c.2149C>T (p.His717Tyr)
c.*1130C>T (n.*1130C>T)
c.*1149C>T (n.*1149C>T)
c.1420C>T
c.2074C>T (p.His692Tyr)
c.*1107C>T (n.*1107C>T)
c.994C>T (p.His332Tyr)
c.706C>T (p.His236Tyr)
c.2230C>T (p.His744Tyr)
c.2032C>T (p.His678Tyr)
c.1186C>T (p.His396Tyr)
c.1141C>T (p.His381Tyr)
c.973C>T (p.His325Tyr)
c.847C>T (p.His283Tyr)
12g.32625757A>CCA384368004FGD4c.1739A>C (p.His580Pro)
c.1994A>C (p.His665Pro)
c.1460A>C (p.His487Pro)
c.551A>C (p.His184Pro)
n.1246A>C
n.537A>C
c.2150A>C (p.His717Pro)
c.*1131A>C (n.*1131A>C)
c.*1150A>C (n.*1150A>C)
c.1421A>C
c.2075A>C (p.His692Pro)
c.*1108A>C (n.*1108A>C)
c.995A>C (p.His332Pro)
c.707A>C (p.His236Pro)
c.2231A>C (p.His744Pro)
c.2033A>C (p.His678Pro)
c.1187A>C (p.His396Pro)
c.1142A>C (p.His381Pro)
c.974A>C (p.His325Pro)
c.848A>C (p.His283Pro)
12g.32625757A>GCA384368010FGD4c.1739A>G (p.His580Arg)
c.1994A>G (p.His665Arg)
c.1460A>G (p.His487Arg)
c.551A>G (p.His184Arg)
n.1246A>G
n.537A>G
c.2150A>G (p.His717Arg)
c.*1131A>G (n.*1131A>G)
c.*1150A>G (n.*1150A>G)
c.1421A>G
c.2075A>G (p.His692Arg)
c.*1108A>G (n.*1108A>G)
c.995A>G (p.His332Arg)
c.707A>G (p.His236Arg)
c.2231A>G (p.His744Arg)
c.2033A>G (p.His678Arg)
c.1187A>G (p.His396Arg)
c.1142A>G (p.His381Arg)
c.974A>G (p.His325Arg)
c.848A>G (p.His283Arg)
12g.32625757A>TCA384368014FGD4c.1739A>T (p.His580Leu)
c.1994A>T (p.His665Leu)
c.1460A>T (p.His487Leu)
c.551A>T (p.His184Leu)
n.1246A>T
n.537A>T
c.2150A>T (p.His717Leu)
c.*1131A>T (n.*1131A>T)
c.*1150A>T (n.*1150A>T)
c.1421A>T
c.2075A>T (p.His692Leu)
c.*1108A>T (n.*1108A>T)
c.995A>T (p.His332Leu)
c.707A>T (p.His236Leu)
c.2231A>T (p.His744Leu)
c.2033A>T (p.His678Leu)
c.1187A>T (p.His396Leu)
c.1142A>T (p.His381Leu)
c.974A>T (p.His325Leu)
c.848A>T (p.His283Leu)
12g.32625758T>ACA384368029FGD4c.1740T>A (p.His580Gln)
c.1995T>A (p.His665Gln)
c.1461T>A (p.His487Gln)
c.552T>A (p.His184Gln)
n.1247T>A
n.538T>A
c.2151T>A (p.His717Gln)
c.*1132T>A (n.*1132T>A)
c.*1151T>A (n.*1151T>A)
c.1422T>A
c.2076T>A (p.His692Gln)
c.*1109T>A (n.*1109T>A)
c.996T>A (p.His332Gln)
c.708T>A (p.His236Gln)
c.2232T>A (p.His744Gln)
c.2034T>A (p.His678Gln)
c.1188T>A (p.His396Gln)
c.1143T>A (p.His381Gln)
c.975T>A (p.His325Gln)
c.849T>A (p.His283Gln)
12g.32625758T>CCA479169342FGD4c.1740T>C (p.His580=)
c.1995T>C (p.His665=)
c.1461T>C (p.His487=)
c.552T>C (p.His184=)
n.1247T>C
n.538T>C
c.2151T>C (p.His717=)
c.*1132T>C (n.*1132T>C)
c.*1151T>C (n.*1151T>C)
c.1422T>C
c.2076T>C (p.His692=)
c.*1109T>C (n.*1109T>C)
c.996T>C (p.His332=)
c.708T>C (p.His236=)
c.2232T>C (p.His744=)
c.2034T>C (p.His678=)
c.1188T>C (p.His396=)
c.1143T>C (p.His381=)
c.975T>C (p.His325=)
c.849T>C (p.His283=)
12g.32625758T>GCA384368033FGD4c.1740T>G (p.His580Gln)
c.1995T>G (p.His665Gln)
c.1461T>G (p.His487Gln)
c.552T>G (p.His184Gln)
n.1247T>G
n.538T>G
c.2151T>G (p.His717Gln)
c.*1132T>G (n.*1132T>G)
c.*1151T>G (n.*1151T>G)
c.1422T>G
c.2076T>G (p.His692Gln)
c.*1109T>G (n.*1109T>G)
c.996T>G (p.His332Gln)
c.708T>G (p.His236Gln)
c.2232T>G (p.His744Gln)
c.2034T>G (p.His678Gln)
c.1188T>G (p.His396Gln)
c.1143T>G (p.His381Gln)
c.975T>G (p.His325Gln)
c.849T>G (p.His283Gln)
12g.32625759C>ACA384368036FGD4c.1741C>A (p.His581Asn)
c.1996C>A (p.His666Asn)
c.1462C>A (p.His488Asn)
c.553C>A (p.His185Asn)
n.1248C>A
n.539C>A
c.2152C>A (p.His718Asn)
c.*1133C>A (n.*1133C>A)
c.*1152C>A (n.*1152C>A)
c.1423C>A
c.2077C>A (p.His693Asn)
c.*1110C>A (n.*1110C>A)
c.997C>A (p.His333Asn)
c.709C>A (p.His237Asn)
c.2233C>A (p.His745Asn)
c.2035C>A (p.His679Asn)
c.1189C>A (p.His397Asn)
c.1144C>A (p.His382Asn)
c.976C>A (p.His326Asn)
c.850C>A (p.His284Asn)
12g.32625759C>GCA384368041FGD4c.1741C>G (p.His581Asp)
c.1996C>G (p.His666Asp)
c.1462C>G (p.His488Asp)
c.553C>G (p.His185Asp)
n.1248C>G
n.539C>G
c.2152C>G (p.His718Asp)
c.*1133C>G (n.*1133C>G)
c.*1152C>G (n.*1152C>G)
c.1423C>G
c.2077C>G (p.His693Asp)
c.*1110C>G (n.*1110C>G)
c.997C>G (p.His333Asp)
c.709C>G (p.His237Asp)
c.2233C>G (p.His745Asp)
c.2035C>G (p.His679Asp)
c.1189C>G (p.His397Asp)
c.1144C>G (p.His382Asp)
c.976C>G (p.His326Asp)
c.850C>G (p.His284Asp)
12g.32625759C>TCA384368042FGD4c.1741C>T (p.His581Tyr)
c.1996C>T (p.His666Tyr)
c.1462C>T (p.His488Tyr)
c.553C>T (p.His185Tyr)
n.1248C>T
n.539C>T
c.2152C>T (p.His718Tyr)
c.*1133C>T (n.*1133C>T)
c.*1152C>T (n.*1152C>T)
c.1423C>T
c.2077C>T (p.His693Tyr)
c.*1110C>T (n.*1110C>T)
c.997C>T (p.His333Tyr)
c.709C>T (p.His237Tyr)
c.2233C>T (p.His745Tyr)
c.2035C>T (p.His679Tyr)
c.1189C>T (p.His397Tyr)
c.1144C>T (p.His382Tyr)
c.976C>T (p.His326Tyr)
c.850C>T (p.His284Tyr)
12g.32625760A=CA2026244049FGD4c.1742A= (p.His581=)
c.1997A= (p.His666=)
c.1463A= (p.His488=)
c.554A= (p.His185=)
n.1249A=
n.540A=
c.2153A= (p.His718=)
c.*1134A= (n.*1134A=)
c.*1153A= (n.*1153A=)
c.1424A=
c.2078A= (p.His693=)
c.*1111A= (n.*1111A=)
c.998A= (p.His333=)
c.710A= (p.His237=)
c.2234A= (p.His745=)
c.2036A= (p.His679=)
c.1190A= (p.His397=)
c.1145A= (p.His382=)
c.977A= (p.His326=)
c.851A= (p.His284=)
12g.32625760A>CCA384368043FGD4c.1742A>C (p.His581Pro)
c.1997A>C (p.His666Pro)
c.1463A>C (p.His488Pro)
c.554A>C (p.His185Pro)
n.1249A>C
n.540A>C
c.2153A>C (p.His718Pro)
c.*1134A>C (n.*1134A>C)
c.*1153A>C (n.*1153A>C)
c.1424A>C
c.2078A>C (p.His693Pro)
c.*1111A>C (n.*1111A>C)
c.998A>C (p.His333Pro)
c.710A>C (p.His237Pro)
c.2234A>C (p.His745Pro)
c.2036A>C (p.His679Pro)
c.1190A>C (p.His397Pro)
c.1145A>C (p.His382Pro)
c.977A>C (p.His326Pro)
c.851A>C (p.His284Pro)
12g.32625760A>GCA384368045FGD4c.1742A>G (p.His581Arg)
c.1997A>G (p.His666Arg)
c.1463A>G (p.His488Arg)
c.554A>G (p.His185Arg)
n.1249A>G
n.540A>G
c.2153A>G (p.His718Arg)
c.*1134A>G (n.*1134A>G)
c.*1153A>G (n.*1153A>G)
c.1424A>G
c.2078A>G (p.His693Arg)
c.*1111A>G (n.*1111A>G)
c.998A>G (p.His333Arg)
c.710A>G (p.His237Arg)
c.2234A>G (p.His745Arg)
c.2036A>G (p.His679Arg)
c.1190A>G (p.His397Arg)
c.1145A>G (p.His382Arg)
c.977A>G (p.His326Arg)
c.851A>G (p.His284Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32625760A>TCA384368047FGD4c.1742A>T (p.His581Leu)
c.1997A>T (p.His666Leu)
c.1463A>T (p.His488Leu)
c.554A>T (p.His185Leu)
n.1249A>T
n.540A>T
c.2153A>T (p.His718Leu)
c.*1134A>T (n.*1134A>T)
c.*1153A>T (n.*1153A>T)
c.1424A>T
c.2078A>T (p.His693Leu)
c.*1111A>T (n.*1111A>T)
c.998A>T (p.His333Leu)
c.710A>T (p.His237Leu)
c.2234A>T (p.His745Leu)
c.2036A>T (p.His679Leu)
c.1190A>T (p.His397Leu)
c.1145A>T (p.His382Leu)
c.977A>T (p.His326Leu)
c.851A>T (p.His284Leu)
12g.32625761T>ACA384368048FGD4c.1743T>A (p.His581Gln)
c.1998T>A (p.His666Gln)
c.1464T>A (p.His488Gln)
c.555T>A (p.His185Gln)
n.1250T>A
n.541T>A
c.2154T>A (p.His718Gln)
c.*1135T>A (n.*1135T>A)
c.*1154T>A (n.*1154T>A)
c.1425T>A
c.2079T>A (p.His693Gln)
c.*1112T>A (n.*1112T>A)
c.999T>A (p.His333Gln)
c.711T>A (p.His237Gln)
c.2235T>A (p.His745Gln)
c.2037T>A (p.His679Gln)
c.1191T>A (p.His397Gln)
c.1146T>A (p.His382Gln)
c.978T>A (p.His326Gln)
c.852T>A (p.His284Gln)
12g.32625761T>CCA479169346FGD4c.1743T>C (p.His581=)
c.1998T>C (p.His666=)
c.1464T>C (p.His488=)
c.555T>C (p.His185=)
n.1250T>C
n.541T>C
c.2154T>C (p.His718=)
c.*1135T>C (n.*1135T>C)
c.*1154T>C (n.*1154T>C)
c.1425T>C
c.2079T>C (p.His693=)
c.*1112T>C (n.*1112T>C)
c.999T>C (p.His333=)
c.711T>C (p.His237=)
c.2235T>C (p.His745=)
c.2037T>C (p.His679=)
c.1191T>C (p.His397=)
c.1146T>C (p.His382=)
c.978T>C (p.His326=)
c.852T>C (p.His284=)
 dbSNP gnomAD v2 gnomAD v4
12g.32625761T>GCA384368049FGD4c.1743T>G (p.His581Gln)
c.1998T>G (p.His666Gln)
c.1464T>G (p.His488Gln)
c.555T>G (p.His185Gln)
n.1250T>G
n.541T>G
c.2154T>G (p.His718Gln)
c.*1135T>G (n.*1135T>G)
c.*1154T>G (n.*1154T>G)
c.1425T>G
c.2079T>G (p.His693Gln)
c.*1112T>G (n.*1112T>G)
c.999T>G (p.His333Gln)
c.711T>G (p.His237Gln)
c.2235T>G (p.His745Gln)
c.2037T>G (p.His679Gln)
c.1191T>G (p.His397Gln)
c.1146T>G (p.His382Gln)
c.978T>G (p.His326Gln)
c.852T>G (p.His284Gln)
12g.32625761T=CA2026244051FGD4c.1743T= (p.His581=)
c.1998T= (p.His666=)
c.1464T= (p.His488=)
c.555T= (p.His185=)
n.1250T=
n.541T=
c.2154T= (p.His718=)
c.*1135T= (n.*1135T=)
c.*1154T= (n.*1154T=)
c.1425T=
c.2079T= (p.His693=)
c.*1112T= (n.*1112T=)
c.999T= (p.His333=)
c.711T= (p.His237=)
c.2235T= (p.His745=)
c.2037T= (p.His679=)
c.1191T= (p.His397=)
c.1146T= (p.His382=)
c.978T= (p.His326=)
c.852T= (p.His284=)
12g.32625762T>ACA384368050FGD4c.1744T>A (p.Cys582Ser)
c.1999T>A (p.Cys667Ser)
c.1465T>A (p.Cys489Ser)
c.556T>A (p.Cys186Ser)
n.1251T>A
n.542T>A
c.2155T>A (p.Cys719Ser)
c.*1136T>A (n.*1136T>A)
c.*1155T>A (n.*1155T>A)
c.1426T>A
c.2080T>A (p.Cys694Ser)
c.*1113T>A (n.*1113T>A)
c.1000T>A (p.Cys334Ser)
c.712T>A (p.Cys238Ser)
c.2236T>A (p.Cys746Ser)
c.2038T>A (p.Cys680Ser)
c.1192T>A (p.Cys398Ser)
c.1147T>A (p.Cys383Ser)
c.979T>A (p.Cys327Ser)
c.853T>A (p.Cys285Ser)
12g.32625762T>CCA384368052FGD4c.1744T>C (p.Cys582Arg)
c.1999T>C (p.Cys667Arg)
c.1465T>C (p.Cys489Arg)
c.556T>C (p.Cys186Arg)
n.1251T>C
n.542T>C
c.2155T>C (p.Cys719Arg)
c.*1136T>C (n.*1136T>C)
c.*1155T>C (n.*1155T>C)
c.1426T>C
c.2080T>C (p.Cys694Arg)
c.*1113T>C (n.*1113T>C)
c.1000T>C (p.Cys334Arg)
c.712T>C (p.Cys238Arg)
c.2236T>C (p.Cys746Arg)
c.2038T>C (p.Cys680Arg)
c.1192T>C (p.Cys398Arg)
c.1147T>C (p.Cys383Arg)
c.979T>C (p.Cys327Arg)
c.853T>C (p.Cys285Arg)
12g.32625762T>GCA384368054FGD4c.1744T>G (p.Cys582Gly)
c.1999T>G (p.Cys667Gly)
c.1465T>G (p.Cys489Gly)
c.556T>G (p.Cys186Gly)
n.1251T>G
n.542T>G
c.2155T>G (p.Cys719Gly)
c.*1136T>G (n.*1136T>G)
c.*1155T>G (n.*1155T>G)
c.1426T>G
c.2080T>G (p.Cys694Gly)
c.*1113T>G (n.*1113T>G)
c.1000T>G (p.Cys334Gly)
c.712T>G (p.Cys238Gly)
c.2236T>G (p.Cys746Gly)
c.2038T>G (p.Cys680Gly)
c.1192T>G (p.Cys398Gly)
c.1147T>G (p.Cys383Gly)
c.979T>G (p.Cys327Gly)
c.853T>G (p.Cys285Gly)
12g.32625762_32625763insCTCA2795085870FGD4c.1744_1745insCT (p.Cys582SerfsTer27)
c.1999_2000insCT (p.Cys667SerfsTer27)
c.1465_1466insCT (p.Cys489SerfsTer27)
c.556_557insCT (p.Cys186SerfsTer27)
n.1251_1252insCT
n.542_543insCT
c.2155_2156insCT (p.Cys719SerfsTer27)
c.*1136_*1137insCT (n.*1136_*1137insCT)
c.*1155_*1156insCT (n.*1155_*1156insCT)
c.1426_1427insCT
c.2080_2081insCT (p.Cys694SerfsTer27)
c.*1113_*1114insCT (n.*1113_*1114insCT)
c.1000_1001insCT (p.Cys334SerfsTer27)
c.712_713insCT (p.Cys238SerfsTer27)
c.2236_2237insCT (p.Cys746SerfsTer27)
c.2038_2039insCT (p.Cys680SerfsTer27)
c.1192_1193insCT (p.Cys398SerfsTer27)
c.1147_1148insCT (p.Cys383SerfsTer27)
c.979_980insCT (p.Cys327SerfsTer27)
c.853_854insCT (p.Cys285SerfsTer27)
12g.32625763G>ACA384368057FGD4c.1745G>A (p.Cys582Tyr)
c.2000G>A (p.Cys667Tyr)
c.1466G>A (p.Cys489Tyr)
c.557G>A (p.Cys186Tyr)
n.1252G>A
n.543G>A
c.2156G>A (p.Cys719Tyr)
c.*1137G>A (n.*1137G>A)
c.*1156G>A (n.*1156G>A)
c.1427G>A
c.2081G>A (p.Cys694Tyr)
c.*1114G>A (n.*1114G>A)
c.1001G>A (p.Cys334Tyr)
c.713G>A (p.Cys238Tyr)
c.2237G>A (p.Cys746Tyr)
c.2039G>A (p.Cys680Tyr)
c.1193G>A (p.Cys398Tyr)
c.1148G>A (p.Cys383Tyr)
c.980G>A (p.Cys327Tyr)
c.854G>A (p.Cys285Tyr)
12g.32625763G>CCA384368058FGD4c.1745G>C (p.Cys582Ser)
c.2000G>C (p.Cys667Ser)
c.1466G>C (p.Cys489Ser)
c.557G>C (p.Cys186Ser)
n.1252G>C
n.543G>C
c.2156G>C (p.Cys719Ser)
c.*1137G>C (n.*1137G>C)
c.*1156G>C (n.*1156G>C)
c.1427G>C
c.2081G>C (p.Cys694Ser)
c.*1114G>C (n.*1114G>C)
c.1001G>C (p.Cys334Ser)
c.713G>C (p.Cys238Ser)
c.2237G>C (p.Cys746Ser)
c.2039G>C (p.Cys680Ser)
c.1193G>C (p.Cys398Ser)
c.1148G>C (p.Cys383Ser)
c.980G>C (p.Cys327Ser)
c.854G>C (p.Cys285Ser)
12g.32625763G>TCA384368061FGD4c.1745G>T (p.Cys582Phe)
c.2000G>T (p.Cys667Phe)
c.1466G>T (p.Cys489Phe)
c.557G>T (p.Cys186Phe)
n.1252G>T
n.543G>T
c.2156G>T (p.Cys719Phe)
c.*1137G>T (n.*1137G>T)
c.*1156G>T (n.*1156G>T)
c.1427G>T
c.2081G>T (p.Cys694Phe)
c.*1114G>T (n.*1114G>T)
c.1001G>T (p.Cys334Phe)
c.713G>T (p.Cys238Phe)
c.2237G>T (p.Cys746Phe)
c.2039G>T (p.Cys680Phe)
c.1193G>T (p.Cys398Phe)
c.1148G>T (p.Cys383Phe)
c.980G>T (p.Cys327Phe)
c.854G>T (p.Cys285Phe)
12g.32625764T>ACA384368064FGD4c.1746T>A (p.Cys582Ter)
c.2001T>A (p.Cys667Ter)
c.1467T>A (p.Cys489Ter)
c.558T>A (p.Cys186Ter)
n.1253T>A
n.544T>A
c.2157T>A (p.Cys719Ter)
c.*1138T>A (n.*1138T>A)
c.*1157T>A (n.*1157T>A)
c.1428T>A
c.2082T>A (p.Cys694Ter)
c.*1115T>A (n.*1115T>A)
c.1002T>A (p.Cys334Ter)
c.714T>A (p.Cys238Ter)
c.2238T>A (p.Cys746Ter)
c.2040T>A (p.Cys680Ter)
c.1194T>A (p.Cys398Ter)
c.1149T>A (p.Cys383Ter)
c.981T>A (p.Cys327Ter)
c.855T>A (p.Cys285Ter)
12g.32625764T>CCA479169350FGD4c.1746T>C (p.Cys582=)
c.2001T>C (p.Cys667=)
c.1467T>C (p.Cys489=)
c.558T>C (p.Cys186=)
n.1253T>C
n.544T>C
c.2157T>C (p.Cys719=)
c.*1138T>C (n.*1138T>C)
c.*1157T>C (n.*1157T>C)
c.1428T>C
c.2082T>C (p.Cys694=)
c.*1115T>C (n.*1115T>C)
c.1002T>C (p.Cys334=)
c.714T>C (p.Cys238=)
c.2238T>C (p.Cys746=)
c.2040T>C (p.Cys680=)
c.1194T>C (p.Cys398=)
c.1149T>C (p.Cys383=)
c.981T>C (p.Cys327=)
c.855T>C (p.Cys285=)
12g.32625764T>GCA384368066FGD4c.1746T>G (p.Cys582Trp)
c.2001T>G (p.Cys667Trp)
c.1467T>G (p.Cys489Trp)
c.558T>G (p.Cys186Trp)
n.1253T>G
n.544T>G
c.2157T>G (p.Cys719Trp)
c.*1138T>G (n.*1138T>G)
c.*1157T>G (n.*1157T>G)
c.1428T>G
c.2082T>G (p.Cys694Trp)
c.*1115T>G (n.*1115T>G)
c.1002T>G (p.Cys334Trp)
c.714T>G (p.Cys238Trp)
c.2238T>G (p.Cys746Trp)
c.2040T>G (p.Cys680Trp)
c.1194T>G (p.Cys398Trp)
c.1149T>G (p.Cys383Trp)
c.981T>G (p.Cys327Trp)
c.855T>G (p.Cys285Trp)
12g.32625765C>ACA479169351FGD4c.1747C>A (p.Arg583=)
c.2002C>A (p.Arg668=)
c.1468C>A (p.Arg490=)
c.559C>A (p.Arg187=)
n.1254C>A
n.545C>A
c.2158C>A (p.Arg720=)
c.*1139C>A (n.*1139C>A)
c.*1158C>A (n.*1158C>A)
c.1429C>A
c.2083C>A (p.Arg695=)
c.*1116C>A (n.*1116C>A)
c.1003C>A (p.Arg335=)
c.715C>A (p.Arg239=)
c.2239C>A (p.Arg747=)
c.2041C>A (p.Arg681=)
c.1195C>A (p.Arg399=)
c.1150C>A (p.Arg384=)
c.982C>A (p.Arg328=)
c.856C>A (p.Arg286=)
12g.32625765C=CA2026244057FGD4c.1747C= (p.Arg583=)
c.2002C= (p.Arg668=)
c.1468C= (p.Arg490=)
c.559C= (p.Arg187=)
n.1254C=
n.545C=
c.2158C= (p.Arg720=)
c.*1139C= (n.*1139C=)
c.*1158C= (n.*1158C=)
c.1429C=
c.2083C= (p.Arg695=)
c.*1116C= (n.*1116C=)
c.1003C= (p.Arg335=)
c.715C= (p.Arg239=)
c.2239C= (p.Arg747=)
c.2041C= (p.Arg681=)
c.1195C= (p.Arg399=)
c.1150C= (p.Arg384=)
c.982C= (p.Arg328=)
c.856C= (p.Arg286=)
12g.32625765C>GCA384368068FGD4c.1747C>G (p.Arg583Gly)
c.2002C>G (p.Arg668Gly)
c.1468C>G (p.Arg490Gly)
c.559C>G (p.Arg187Gly)
n.1254C>G
n.545C>G
c.2158C>G (p.Arg720Gly)
c.*1139C>G (n.*1139C>G)
c.*1158C>G (n.*1158C>G)
c.1429C>G
c.2083C>G (p.Arg695Gly)
c.*1116C>G (n.*1116C>G)
c.1003C>G (p.Arg335Gly)
c.715C>G (p.Arg239Gly)
c.2239C>G (p.Arg747Gly)
c.2041C>G (p.Arg681Gly)
c.1195C>G (p.Arg399Gly)
c.1150C>G (p.Arg384Gly)
c.982C>G (p.Arg328Gly)
c.856C>G (p.Arg286Gly)
12g.32625765C>TCA6506994FGD4c.1747C>T (p.Arg583Ter)
c.2002C>T (p.Arg668Ter)
c.1468C>T (p.Arg490Ter)
c.559C>T (p.Arg187Ter)
n.1254C>T
n.545C>T
c.2158C>T (p.Arg720Ter)
c.*1139C>T (n.*1139C>T)
c.*1158C>T (n.*1158C>T)
c.1429C>T
c.2083C>T (p.Arg695Ter)
c.*1116C>T (n.*1116C>T)
c.1003C>T (p.Arg335Ter)
c.715C>T (p.Arg239Ter)
c.2239C>T (p.Arg747Ter)
c.2041C>T (p.Arg681Ter)
c.1195C>T (p.Arg399Ter)
c.1150C>T (p.Arg384Ter)
c.982C>T (p.Arg328Ter)
c.856C>T (p.Arg286Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32625765_32625766insTCTTATACACATCTCGCCA2795085874FGD4c.1747_1748insTCTTATACACATCTCGC (p.Arg583LeufsTer31)
c.2002_2003insTCTTATACACATCTCGC (p.Arg668LeufsTer31)
c.1468_1469insTCTTATACACATCTCGC (p.Arg490LeufsTer31)
c.559_560insTCTTATACACATCTCGC (p.Arg187LeufsTer31)
n.1254_1255insTCTTATACACATCTCGC
n.545_546insTCTTATACACATCTCGC
c.2158_2159insTCTTATACACATCTCGC (p.Arg720LeufsTer31)
c.*1139_*1140insTCTTATACACATCTCGC (n.*1139_*1140insTCTTATACACATCTCGC)
c.*1158_*1159insTCTTATACACATCTCGC (n.*1158_*1159insTCTTATACACATCTCGC)
c.1429_1430insTCTTATACACATCTCGC
c.2083_2084insTCTTATACACATCTCGC (p.Arg695LeufsTer31)
c.*1116_*1117insTCTTATACACATCTCGC (n.*1116_*1117insTCTTATACACATCTCGC)
c.1003_1004insTCTTATACACATCTCGC (p.Arg335LeufsTer31)
c.715_716insTCTTATACACATCTCGC (p.Arg239LeufsTer31)
c.2239_2240insTCTTATACACATCTCGC (p.Arg747LeufsTer31)
c.2041_2042insTCTTATACACATCTCGC (p.Arg681LeufsTer31)
c.1195_1196insTCTTATACACATCTCGC (p.Arg399LeufsTer31)
c.1150_1151insTCTTATACACATCTCGC (p.Arg384LeufsTer31)
c.982_983insTCTTATACACATCTCGC (p.Arg328LeufsTer31)
c.856_857insTCTTATACACATCTCGC (p.Arg286LeufsTer31)
12g.32625766G>ACA384368077FGD4c.1748G>A (p.Arg583Gln)
c.2003G>A (p.Arg668Gln)
c.1469G>A (p.Arg490Gln)
c.560G>A (p.Arg187Gln)
n.1255G>A
n.546G>A
c.2159G>A (p.Arg720Gln)
c.*1140G>A (n.*1140G>A)
c.*1159G>A (n.*1159G>A)
c.1430G>A
c.2084G>A (p.Arg695Gln)
c.*1117G>A (n.*1117G>A)
c.1004G>A (p.Arg335Gln)
c.716G>A (p.Arg239Gln)
c.2240G>A (p.Arg747Gln)
c.2042G>A (p.Arg681Gln)
c.1196G>A (p.Arg399Gln)
c.1151G>A (p.Arg384Gln)
c.983G>A (p.Arg328Gln)
c.857G>A (p.Arg286Gln)
 ClinVar dbSNP gnomAD v4
12g.32625766G>CCA384368078FGD4c.1748G>C (p.Arg583Pro)
c.2003G>C (p.Arg668Pro)
c.1469G>C (p.Arg490Pro)
c.560G>C (p.Arg187Pro)
n.1255G>C
n.546G>C
c.2159G>C (p.Arg720Pro)
c.*1140G>C (n.*1140G>C)
c.*1159G>C (n.*1159G>C)
c.1430G>C
c.2084G>C (p.Arg695Pro)
c.*1117G>C (n.*1117G>C)
c.1004G>C (p.Arg335Pro)
c.716G>C (p.Arg239Pro)
c.2240G>C (p.Arg747Pro)
c.2042G>C (p.Arg681Pro)
c.1196G>C (p.Arg399Pro)
c.1151G>C (p.Arg384Pro)
c.983G>C (p.Arg328Pro)
c.857G>C (p.Arg286Pro)
12g.32625766G=CA2026244061FGD4c.1748G= (p.Arg583=)
c.2003G= (p.Arg668=)
c.1469G= (p.Arg490=)
c.560G= (p.Arg187=)
n.1255G=
n.546G=
c.2159G= (p.Arg720=)
c.*1140G= (n.*1140G=)
c.*1159G= (n.*1159G=)
c.1430G=
c.2084G= (p.Arg695=)
c.*1117G= (n.*1117G=)
c.1004G= (p.Arg335=)
c.716G= (p.Arg239=)
c.2240G= (p.Arg747=)
c.2042G= (p.Arg681=)
c.1196G= (p.Arg399=)
c.1151G= (p.Arg384=)
c.983G= (p.Arg328=)
c.857G= (p.Arg286=)
12g.32625766G>TCA384368076FGD4c.1748G>T (p.Arg583Leu)
c.2003G>T (p.Arg668Leu)
c.1469G>T (p.Arg490Leu)
c.560G>T (p.Arg187Leu)
n.1255G>T
n.546G>T
c.2159G>T (p.Arg720Leu)
c.*1140G>T (n.*1140G>T)
c.*1159G>T (n.*1159G>T)
c.1430G>T
c.2084G>T (p.Arg695Leu)
c.*1117G>T (n.*1117G>T)
c.1004G>T (p.Arg335Leu)
c.716G>T (p.Arg239Leu)
c.2240G>T (p.Arg747Leu)
c.2042G>T (p.Arg681Leu)
c.1196G>T (p.Arg399Leu)
c.1151G>T (p.Arg384Leu)
c.983G>T (p.Arg328Leu)
c.857G>T (p.Arg286Leu)
12g.32625767A>CCA479169352FGD4c.1749A>C (p.Arg583=)
c.2004A>C (p.Arg668=)
c.1470A>C (p.Arg490=)
c.561A>C (p.Arg187=)
n.1256A>C
n.547A>C
c.2160A>C (p.Arg720=)
c.*1141A>C (n.*1141A>C)
c.*1160A>C (n.*1160A>C)
c.1431A>C
c.2085A>C (p.Arg695=)
c.*1118A>C (n.*1118A>C)
c.1005A>C (p.Arg335=)
c.717A>C (p.Arg239=)
c.2241A>C (p.Arg747=)
c.2043A>C (p.Arg681=)
c.1197A>C (p.Arg399=)
c.1152A>C (p.Arg384=)
c.984A>C (p.Arg328=)
c.858A>C (p.Arg286=)
12g.32625767A>GCA479169353FGD4c.1749A>G (p.Arg583=)
c.2004A>G (p.Arg668=)
c.1470A>G (p.Arg490=)
c.561A>G (p.Arg187=)
n.1256A>G
n.547A>G
c.2160A>G (p.Arg720=)
c.*1141A>G (n.*1141A>G)
c.*1160A>G (n.*1160A>G)
c.1431A>G
c.2085A>G (p.Arg695=)
c.*1118A>G (n.*1118A>G)
c.1005A>G (p.Arg335=)
c.717A>G (p.Arg239=)
c.2241A>G (p.Arg747=)
c.2043A>G (p.Arg681=)
c.1197A>G (p.Arg399=)
c.1152A>G (p.Arg384=)
c.984A>G (p.Arg328=)
c.858A>G (p.Arg286=)
12g.32625767A>TCA479169354FGD4c.1749A>T (p.Arg583=)
c.2004A>T (p.Arg668=)
c.1470A>T (p.Arg490=)
c.561A>T (p.Arg187=)
n.1256A>T
n.547A>T
c.2160A>T (p.Arg720=)
c.*1141A>T (n.*1141A>T)
c.*1160A>T (n.*1160A>T)
c.1431A>T
c.2085A>T (p.Arg695=)
c.*1118A>T (n.*1118A>T)
c.1005A>T (p.Arg335=)
c.717A>T (p.Arg239=)
c.2241A>T (p.Arg747=)
c.2043A>T (p.Arg681=)
c.1197A>T (p.Arg399=)
c.1152A>T (p.Arg384=)
c.984A>T (p.Arg328=)
c.858A>T (p.Arg286=)
12g.32625768G>ACA384368079FGD4c.1750G>A (p.Ala584Thr)
c.2005G>A (p.Ala669Thr)
c.1471G>A (p.Ala491Thr)
c.562G>A (p.Ala188Thr)
n.1257G>A
n.548G>A
c.2161G>A (p.Ala721Thr)
c.*1142G>A (n.*1142G>A)
c.*1161G>A (n.*1161G>A)
c.1432G>A
c.2086G>A (p.Ala696Thr)
c.*1119G>A (n.*1119G>A)
c.1006G>A (p.Ala336Thr)
c.718G>A (p.Ala240Thr)
c.2242G>A (p.Ala748Thr)
c.2044G>A (p.Ala682Thr)
c.1198G>A (p.Ala400Thr)
c.1153G>A (p.Ala385Thr)
c.985G>A (p.Ala329Thr)
c.859G>A (p.Ala287Thr)
 gnomAD v4
12g.32625768G>CCA384368080FGD4c.1750G>C (p.Ala584Pro)
c.2005G>C (p.Ala669Pro)
c.1471G>C (p.Ala491Pro)
c.562G>C (p.Ala188Pro)
n.1257G>C
n.548G>C
c.2161G>C (p.Ala721Pro)
c.*1142G>C (n.*1142G>C)
c.*1161G>C (n.*1161G>C)
c.1432G>C
c.2086G>C (p.Ala696Pro)
c.*1119G>C (n.*1119G>C)
c.1006G>C (p.Ala336Pro)
c.718G>C (p.Ala240Pro)
c.2242G>C (p.Ala748Pro)
c.2044G>C (p.Ala682Pro)
c.1198G>C (p.Ala400Pro)
c.1153G>C (p.Ala385Pro)
c.985G>C (p.Ala329Pro)
c.859G>C (p.Ala287Pro)
12g.32625768G>TCA384368082FGD4c.1750G>T (p.Ala584Ser)
c.2005G>T (p.Ala669Ser)
c.1471G>T (p.Ala491Ser)
c.562G>T (p.Ala188Ser)
n.1257G>T
n.548G>T
c.2161G>T (p.Ala721Ser)
c.*1142G>T (n.*1142G>T)
c.*1161G>T (n.*1161G>T)
c.1432G>T
c.2086G>T (p.Ala696Ser)
c.*1119G>T (n.*1119G>T)
c.1006G>T (p.Ala336Ser)
c.718G>T (p.Ala240Ser)
c.2242G>T (p.Ala748Ser)
c.2044G>T (p.Ala682Ser)
c.1198G>T (p.Ala400Ser)
c.1153G>T (p.Ala385Ser)
c.985G>T (p.Ala329Ser)
c.859G>T (p.Ala287Ser)
12g.32625769C>ACA384368084FGD4c.1751C>A (p.Ala584Glu)
c.2006C>A (p.Ala669Glu)
c.1472C>A (p.Ala491Glu)
c.563C>A (p.Ala188Glu)
n.1258C>A
n.549C>A
c.2162C>A (p.Ala721Glu)
c.*1143C>A (n.*1143C>A)
c.*1162C>A (n.*1162C>A)
c.1433C>A
c.2087C>A (p.Ala696Glu)
c.*1120C>A (n.*1120C>A)
c.1007C>A (p.Ala336Glu)
c.719C>A (p.Ala240Glu)
c.2243C>A (p.Ala748Glu)
c.2045C>A (p.Ala682Glu)
c.1199C>A (p.Ala400Glu)
c.1154C>A (p.Ala385Glu)
c.986C>A (p.Ala329Glu)
c.860C>A (p.Ala287Glu)
12g.32625769C>GCA384368086FGD4c.1751C>G (p.Ala584Gly)
c.2006C>G (p.Ala669Gly)
c.1472C>G (p.Ala491Gly)
c.563C>G (p.Ala188Gly)
n.1258C>G
n.549C>G
c.2162C>G (p.Ala721Gly)
c.*1143C>G (n.*1143C>G)
c.*1162C>G (n.*1162C>G)
c.1433C>G
c.2087C>G (p.Ala696Gly)
c.*1120C>G (n.*1120C>G)
c.1007C>G (p.Ala336Gly)
c.719C>G (p.Ala240Gly)
c.2243C>G (p.Ala748Gly)
c.2045C>G (p.Ala682Gly)
c.1199C>G (p.Ala400Gly)
c.1154C>G (p.Ala385Gly)
c.986C>G (p.Ala329Gly)
c.860C>G (p.Ala287Gly)
12g.32625769C>TCA384368088FGD4c.1751C>T (p.Ala584Val)
c.2006C>T (p.Ala669Val)
c.1472C>T (p.Ala491Val)
c.563C>T (p.Ala188Val)
n.1258C>T
n.549C>T
c.2162C>T (p.Ala721Val)
c.*1143C>T (n.*1143C>T)
c.*1162C>T (n.*1162C>T)
c.1433C>T
c.2087C>T (p.Ala696Val)
c.*1120C>T (n.*1120C>T)
c.1007C>T (p.Ala336Val)
c.719C>T (p.Ala240Val)
c.2243C>T (p.Ala748Val)
c.2045C>T (p.Ala682Val)
c.1199C>T (p.Ala400Val)
c.1154C>T (p.Ala385Val)
c.986C>T (p.Ala329Val)
c.860C>T (p.Ala287Val)
 ClinVar
12g.32625770A>CCA479169355FGD4c.1752A>C (p.Ala584=)
c.2007A>C (p.Ala669=)
c.1473A>C (p.Ala491=)
c.564A>C (p.Ala188=)
n.1259A>C
n.550A>C
c.2163A>C (p.Ala721=)
c.*1144A>C (n.*1144A>C)
c.*1163A>C (n.*1163A>C)
c.1434A>C
c.2088A>C (p.Ala696=)
c.*1121A>C (n.*1121A>C)
c.1008A>C (p.Ala336=)
c.720A>C (p.Ala240=)
c.2244A>C (p.Ala748=)
c.2046A>C (p.Ala682=)
c.1200A>C (p.Ala400=)
c.1155A>C (p.Ala385=)
c.987A>C (p.Ala329=)
c.861A>C (p.Ala287=)
12g.32625770A>GCA479169356FGD4c.1752A>G (p.Ala584=)
c.2007A>G (p.Ala669=)
c.1473A>G (p.Ala491=)
c.564A>G (p.Ala188=)
n.1259A>G
n.550A>G
c.2163A>G (p.Ala721=)
c.*1144A>G (n.*1144A>G)
c.*1163A>G (n.*1163A>G)
c.1434A>G
c.2088A>G (p.Ala696=)
c.*1121A>G (n.*1121A>G)
c.1008A>G (p.Ala336=)
c.720A>G (p.Ala240=)
c.2244A>G (p.Ala748=)
c.2046A>G (p.Ala682=)
c.1200A>G (p.Ala400=)
c.1155A>G (p.Ala385=)
c.987A>G (p.Ala329=)
c.861A>G (p.Ala287=)
 gnomAD v4
12g.32625770A>TCA479169357FGD4c.1752A>T (p.Ala584=)
c.2007A>T (p.Ala669=)
c.1473A>T (p.Ala491=)
c.564A>T (p.Ala188=)
n.1259A>T
n.550A>T
c.2163A>T (p.Ala721=)
c.*1144A>T (n.*1144A>T)
c.*1163A>T (n.*1163A>T)
c.1434A>T
c.2088A>T (p.Ala696=)
c.*1121A>T (n.*1121A>T)
c.1008A>T (p.Ala336=)
c.720A>T (p.Ala240=)
c.2244A>T (p.Ala748=)
c.2046A>T (p.Ala682=)
c.1200A>T (p.Ala400=)
c.1155A>T (p.Ala385=)
c.987A>T (p.Ala329=)
c.861A>T (p.Ala287=)
12g.32625771T>ACA384368091FGD4c.1753T>A (p.Cys585Ser)
c.2008T>A (p.Cys670Ser)
c.1474T>A (p.Cys492Ser)
c.565T>A (p.Cys189Ser)
n.1260T>A
n.551T>A
c.2164T>A (p.Cys722Ser)
c.*1145T>A (n.*1145T>A)
c.*1164T>A (n.*1164T>A)
c.1435T>A
c.2089T>A (p.Cys697Ser)
c.*1122T>A (n.*1122T>A)
c.1009T>A (p.Cys337Ser)
c.721T>A (p.Cys241Ser)
c.2245T>A (p.Cys749Ser)
c.2047T>A (p.Cys683Ser)
c.1201T>A (p.Cys401Ser)
c.1156T>A (p.Cys386Ser)
c.988T>A (p.Cys330Ser)
c.862T>A (p.Cys288Ser)
 dbSNP
12g.32625771T>CCA384368094FGD4c.1753T>C (p.Cys585Arg)
c.2008T>C (p.Cys670Arg)
c.1474T>C (p.Cys492Arg)
c.565T>C (p.Cys189Arg)
n.1260T>C
n.551T>C
c.2164T>C (p.Cys722Arg)
c.*1145T>C (n.*1145T>C)
c.*1164T>C (n.*1164T>C)
c.1435T>C
c.2089T>C (p.Cys697Arg)
c.*1122T>C (n.*1122T>C)
c.1009T>C (p.Cys337Arg)
c.721T>C (p.Cys241Arg)
c.2245T>C (p.Cys749Arg)
c.2047T>C (p.Cys683Arg)
c.1201T>C (p.Cys401Arg)
c.1156T>C (p.Cys386Arg)
c.988T>C (p.Cys330Arg)
c.862T>C (p.Cys288Arg)
 ClinVar dbSNP gnomAD v4
12g.32625771T>GCA384368099FGD4c.1753T>G (p.Cys585Gly)
c.2008T>G (p.Cys670Gly)
c.1474T>G (p.Cys492Gly)
c.565T>G (p.Cys189Gly)
n.1260T>G
n.551T>G
c.2164T>G (p.Cys722Gly)
c.*1145T>G (n.*1145T>G)
c.*1164T>G (n.*1164T>G)
c.1435T>G
c.2089T>G (p.Cys697Gly)
c.*1122T>G (n.*1122T>G)
c.1009T>G (p.Cys337Gly)
c.721T>G (p.Cys241Gly)
c.2245T>G (p.Cys749Gly)
c.2047T>G (p.Cys683Gly)
c.1201T>G (p.Cys401Gly)
c.1156T>G (p.Cys386Gly)
c.988T>G (p.Cys330Gly)
c.862T>G (p.Cys288Gly)
12g.32625771T=CA2026244065FGD4c.1753T= (p.Cys585=)
c.2008T= (p.Cys670=)
c.1474T= (p.Cys492=)
c.565T= (p.Cys189=)
n.1260T=
n.551T=
c.2164T= (p.Cys722=)
c.*1145T= (n.*1145T=)
c.*1164T= (n.*1164T=)
c.1435T=
c.2089T= (p.Cys697=)
c.*1122T= (n.*1122T=)
c.1009T= (p.Cys337=)
c.721T= (p.Cys241=)
c.2245T= (p.Cys749=)
c.2047T= (p.Cys683=)
c.1201T= (p.Cys401=)
c.1156T= (p.Cys386=)
c.988T= (p.Cys330=)
c.862T= (p.Cys288=)
12g.32625772G>ACA384368102FGD4c.1754G>A (p.Cys585Tyr)
c.2009G>A (p.Cys670Tyr)
c.1475G>A (p.Cys492Tyr)
c.566G>A (p.Cys189Tyr)
n.1261G>A
n.552G>A
c.2165G>A (p.Cys722Tyr)
c.*1146G>A (n.*1146G>A)
c.*1165G>A (n.*1165G>A)
c.1436G>A
c.2090G>A (p.Cys697Tyr)
c.*1123G>A (n.*1123G>A)
c.1010G>A (p.Cys337Tyr)
c.722G>A (p.Cys241Tyr)
c.2246G>A (p.Cys749Tyr)
c.2048G>A (p.Cys683Tyr)
c.1202G>A (p.Cys401Tyr)
c.1157G>A (p.Cys386Tyr)
c.989G>A (p.Cys330Tyr)
c.863G>A (p.Cys288Tyr)
12g.32625772G>CCA384368103FGD4c.1754G>C (p.Cys585Ser)
c.2009G>C (p.Cys670Ser)
c.1475G>C (p.Cys492Ser)
c.566G>C (p.Cys189Ser)
n.1261G>C
n.552G>C
c.2165G>C (p.Cys722Ser)
c.*1146G>C (n.*1146G>C)
c.*1165G>C (n.*1165G>C)
c.1436G>C
c.2090G>C (p.Cys697Ser)
c.*1123G>C (n.*1123G>C)
c.1010G>C (p.Cys337Ser)
c.722G>C (p.Cys241Ser)
c.2246G>C (p.Cys749Ser)
c.2048G>C (p.Cys683Ser)
c.1202G>C (p.Cys401Ser)
c.1157G>C (p.Cys386Ser)
c.989G>C (p.Cys330Ser)
c.863G>C (p.Cys288Ser)
12g.32625772G>TCA384368106FGD4c.1754G>T (p.Cys585Phe)
c.2009G>T (p.Cys670Phe)
c.1475G>T (p.Cys492Phe)
c.566G>T (p.Cys189Phe)
n.1261G>T
n.552G>T
c.2165G>T (p.Cys722Phe)
c.*1146G>T (n.*1146G>T)
c.*1165G>T (n.*1165G>T)
c.1436G>T
c.2090G>T (p.Cys697Phe)
c.*1123G>T (n.*1123G>T)
c.1010G>T (p.Cys337Phe)
c.722G>T (p.Cys241Phe)
c.2246G>T (p.Cys749Phe)
c.2048G>T (p.Cys683Phe)
c.1202G>T (p.Cys401Phe)
c.1157G>T (p.Cys386Phe)
c.989G>T (p.Cys330Phe)
c.863G>T (p.Cys288Phe)
12g.32625773T>ACA384368111FGD4c.1755T>A (p.Cys585Ter)
c.2010T>A (p.Cys670Ter)
c.1476T>A (p.Cys492Ter)
c.567T>A (p.Cys189Ter)
n.1262T>A
n.553T>A
c.2166T>A (p.Cys722Ter)
c.*1147T>A (n.*1147T>A)
c.*1166T>A (n.*1166T>A)
c.1437T>A
c.2091T>A (p.Cys697Ter)
c.*1124T>A (n.*1124T>A)
c.1011T>A (p.Cys337Ter)
c.723T>A (p.Cys241Ter)
c.2247T>A (p.Cys749Ter)
c.2049T>A (p.Cys683Ter)
c.1203T>A (p.Cys401Ter)
c.1158T>A (p.Cys386Ter)
c.990T>A (p.Cys330Ter)
c.864T>A (p.Cys288Ter)
12g.32625773T>CCA479169358FGD4c.1755T>C (p.Cys585=)
c.2010T>C (p.Cys670=)
c.1476T>C (p.Cys492=)
c.567T>C (p.Cys189=)
n.1262T>C
n.553T>C
c.2166T>C (p.Cys722=)
c.*1147T>C (n.*1147T>C)
c.*1166T>C (n.*1166T>C)
c.1437T>C
c.2091T>C (p.Cys697=)
c.*1124T>C (n.*1124T>C)
c.1011T>C (p.Cys337=)
c.723T>C (p.Cys241=)
c.2247T>C (p.Cys749=)
c.2049T>C (p.Cys683=)
c.1203T>C (p.Cys401=)
c.1158T>C (p.Cys386=)
c.990T>C (p.Cys330=)
c.864T>C (p.Cys288=)
12g.32625773T>GCA384368109FGD4c.1755T>G (p.Cys585Trp)
c.2010T>G (p.Cys670Trp)
c.1476T>G (p.Cys492Trp)
c.567T>G (p.Cys189Trp)
n.1262T>G
n.553T>G
c.2166T>G (p.Cys722Trp)
c.*1147T>G (n.*1147T>G)
c.*1166T>G (n.*1166T>G)
c.1437T>G
c.2091T>G (p.Cys697Trp)
c.*1124T>G (n.*1124T>G)
c.1011T>G (p.Cys337Trp)
c.723T>G (p.Cys241Trp)
c.2247T>G (p.Cys749Trp)
c.2049T>G (p.Cys683Trp)
c.1203T>G (p.Cys401Trp)
c.1158T>G (p.Cys386Trp)
c.990T>G (p.Cys330Trp)
c.864T>G (p.Cys288Trp)
12g.32625774G>ACA384368115FGD4c.1756G>A (p.Gly586Arg)
c.2011G>A (p.Gly671Arg)
c.1477G>A (p.Gly493Arg)
c.568G>A (p.Gly190Arg)
n.1263G>A
n.554G>A
c.2167G>A (p.Gly723Arg)
c.*1148G>A (n.*1148G>A)
c.*1167G>A (n.*1167G>A)
c.1438G>A
c.2092G>A (p.Gly698Arg)
c.*1125G>A (n.*1125G>A)
c.1012G>A (p.Gly338Arg)
c.724G>A (p.Gly242Arg)
c.2248G>A (p.Gly750Arg)
c.2050G>A (p.Gly684Arg)
c.1204G>A (p.Gly402Arg)
c.1159G>A (p.Gly387Arg)
c.991G>A (p.Gly331Arg)
c.865G>A (p.Gly289Arg)
12g.32625774G>CCA384368118FGD4c.1756G>C (p.Gly586Arg)
c.2011G>C (p.Gly671Arg)
c.1477G>C (p.Gly493Arg)
c.568G>C (p.Gly190Arg)
n.1263G>C
n.554G>C
c.2167G>C (p.Gly723Arg)
c.*1148G>C (n.*1148G>C)
c.*1167G>C (n.*1167G>C)
c.1438G>C
c.2092G>C (p.Gly698Arg)
c.*1125G>C (n.*1125G>C)
c.1012G>C (p.Gly338Arg)
c.724G>C (p.Gly242Arg)
c.2248G>C (p.Gly750Arg)
c.2050G>C (p.Gly684Arg)
c.1204G>C (p.Gly402Arg)
c.1159G>C (p.Gly387Arg)
c.991G>C (p.Gly331Arg)
c.865G>C (p.Gly289Arg)
12g.32625774G=CA2026244070FGD4c.1756G= (p.Gly586=)
c.2011G= (p.Gly671=)
c.1477G= (p.Gly493=)
c.568G= (p.Gly190=)
n.1263G=
n.554G=
c.2167G= (p.Gly723=)
c.*1148G= (n.*1148G=)
c.*1167G= (n.*1167G=)
c.1438G=
c.2092G= (p.Gly698=)
c.*1125G= (n.*1125G=)
c.1012G= (p.Gly338=)
c.724G= (p.Gly242=)
c.2248G= (p.Gly750=)
c.2050G= (p.Gly684=)
c.1204G= (p.Gly402=)
c.1159G= (p.Gly387=)
c.991G= (p.Gly331=)
c.865G= (p.Gly289=)
12g.32625774G>TCA251669FGD4c.1756G>T (p.Gly586Ter)
c.2011G>T (p.Gly671Ter)
c.1477G>T (p.Gly493Ter)
c.568G>T (p.Gly190Ter)
n.1263G>T
n.554G>T
c.2167G>T (p.Gly723Ter)
c.*1148G>T (n.*1148G>T)
c.*1167G>T (n.*1167G>T)
c.1438G>T
c.2092G>T (p.Gly698Ter)
c.*1125G>T (n.*1125G>T)
c.1012G>T (p.Gly338Ter)
c.724G>T (p.Gly242Ter)
c.2248G>T (p.Gly750Ter)
c.2050G>T (p.Gly684Ter)
c.1204G>T (p.Gly402Ter)
c.1159G>T (p.Gly387Ter)
c.991G>T (p.Gly331Ter)
c.865G>T (p.Gly289Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched