Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.112016702_112016705del | CA2615974316 | DIXDC1 | c.1768_1771del (p.Ser590ArgfsTer?) n.764_767del c.1135_1138del (p.Ser379ArgfsTer?) n.1121_1124del c.1765_1768del (p.Ser589ArgfsTer?) c.886_889del (p.Ser296ArgfsTer?) c.880_883del (p.Ser294ArgfsTer?) c.1660_1663del (p.Ser554ArgfsTer?) c.1657_1660del (p.Ser553ArgfsTer?) | gnomAD v4 |
11 | g.112016699C>A | CA382589851 | DIXDC1 | c.1765C>A (p.His589Asn) n.761C>A c.1132C>A (p.His378Asn) n.1118C>A c.1762C>A (p.His588Asn) c.883C>A (p.His295Asn) c.877C>A (p.His293Asn) c.1657C>A (p.His553Asn) c.1654C>A (p.His552Asn) | gnomAD v4 |
11 | g.112016699C= | CA2000524040 | DIXDC1 | c.1765C= (p.His589=) n.761C= c.1132C= (p.His378=) n.1118C= c.1762C= (p.His588=) c.883C= (p.His295=) c.877C= (p.His293=) c.1657C= (p.His553=) c.1654C= (p.His552=) | |
11 | g.112016699C>G | CA382589852 | DIXDC1 | c.1765C>G (p.His589Asp) n.761C>G c.1132C>G (p.His378Asp) n.1118C>G c.1762C>G (p.His588Asp) c.883C>G (p.His295Asp) c.877C>G (p.His293Asp) c.1657C>G (p.His553Asp) c.1654C>G (p.His552Asp) | gnomAD v4 |
11 | g.112016699C>T | CA382589854 | DIXDC1 | c.1765C>T (p.His589Tyr) n.761C>T c.1132C>T (p.His378Tyr) n.1118C>T c.1762C>T (p.His588Tyr) c.883C>T (p.His295Tyr) c.877C>T (p.His293Tyr) c.1657C>T (p.His553Tyr) c.1654C>T (p.His552Tyr) | dbSNP |
11 | g.112016700A>C | CA382589858 | DIXDC1 | c.1766A>C (p.His589Pro) n.762A>C c.1133A>C (p.His378Pro) n.1119A>C c.1763A>C (p.His588Pro) c.884A>C (p.His295Pro) c.878A>C (p.His293Pro) c.1658A>C (p.His553Pro) c.1655A>C (p.His552Pro) | |
11 | g.112016700A>G | CA382589860 | DIXDC1 | c.1766A>G (p.His589Arg) n.762A>G c.1133A>G (p.His378Arg) n.1119A>G c.1763A>G (p.His588Arg) c.884A>G (p.His295Arg) c.878A>G (p.His293Arg) c.1658A>G (p.His553Arg) c.1655A>G (p.His552Arg) | |
11 | g.112016700A>T | CA382589862 | DIXDC1 | c.1766A>T (p.His589Leu) n.762A>T c.1133A>T (p.His378Leu) n.1119A>T c.1763A>T (p.His588Leu) c.884A>T (p.His295Leu) c.878A>T (p.His293Leu) c.1658A>T (p.His553Leu) c.1655A>T (p.His552Leu) | |
11 | g.112016701C>A | CA382589865 | DIXDC1 | c.1767C>A (p.His589Gln) n.763C>A c.1134C>A (p.His378Gln) n.1120C>A c.1764C>A (p.His588Gln) c.885C>A (p.His295Gln) c.879C>A (p.His293Gln) c.1659C>A (p.His553Gln) c.1656C>A (p.His552Gln) | |
11 | g.112016701C= | CA2000524041 | DIXDC1 | c.1767C= (p.His589=) n.763C= c.1134C= (p.His378=) n.1120C= c.1764C= (p.His588=) c.885C= (p.His295=) c.879C= (p.His293=) c.1659C= (p.His553=) c.1656C= (p.His552=) | |
11 | g.112016701C>G | CA382589872 | DIXDC1 | c.1767C>G (p.His589Gln) n.763C>G c.1134C>G (p.His378Gln) n.1120C>G c.1764C>G (p.His588Gln) c.885C>G (p.His295Gln) c.879C>G (p.His293Gln) c.1659C>G (p.His553Gln) c.1656C>G (p.His552Gln) | |
11 | g.112016701C>T | CA476785552 | DIXDC1 | c.1767C>T (p.His589=) n.763C>T c.1134C>T (p.His378=) n.1120C>T c.1764C>T (p.His588=) c.885C>T (p.His295=) c.879C>T (p.His293=) c.1659C>T (p.His553=) c.1656C>T (p.His552=) | dbSNP gnomAD v4 |
11 | g.112016702T>A | CA382589874 | DIXDC1 | c.1768T>A (p.Ser590Thr) n.764T>A c.1135T>A (p.Ser379Thr) n.1121T>A c.1765T>A (p.Ser589Thr) c.886T>A (p.Ser296Thr) c.880T>A (p.Ser294Thr) c.1660T>A (p.Ser554Thr) c.1657T>A (p.Ser553Thr) | |
11 | g.112016702T>C | CA382589884 | DIXDC1 | c.1768T>C (p.Ser590Pro) n.764T>C c.1135T>C (p.Ser379Pro) n.1121T>C c.1765T>C (p.Ser589Pro) c.886T>C (p.Ser296Pro) c.880T>C (p.Ser294Pro) c.1660T>C (p.Ser554Pro) c.1657T>C (p.Ser553Pro) | gnomAD v4 |
11 | g.112016702T>G | CA382589886 | DIXDC1 | c.1768T>G (p.Ser590Ala) n.764T>G c.1135T>G (p.Ser379Ala) n.1121T>G c.1765T>G (p.Ser589Ala) c.886T>G (p.Ser296Ala) c.880T>G (p.Ser294Ala) c.1660T>G (p.Ser554Ala) c.1657T>G (p.Ser553Ala) | gnomAD v4 |
11 | g.112016702_112016704delinsTCA | CA2000524042 | DIXDC1 | c.1768_1770delinsTCA (p.Ser590=) n.764_766delinsTCA c.1135_1137delinsTCA (p.Ser379=) n.1121_1123delinsTCA c.1765_1767delinsTCA (p.Ser589=) c.886_888delinsTCA (p.Ser296=) c.880_882delinsTCA (p.Ser294=) c.1660_1662delinsTCA (p.Ser554=) c.1657_1659delinsTCA (p.Ser553=) | |
11 | g.112016703C>A | CA382589892 | DIXDC1 | c.1769C>A (p.Ser590Ter) n.765C>A c.1136C>A (p.Ser379Ter) n.1122C>A c.1766C>A (p.Ser589Ter) c.887C>A (p.Ser296Ter) c.881C>A (p.Ser294Ter) c.1661C>A (p.Ser554Ter) c.1658C>A (p.Ser553Ter) | gnomAD v4 |
11 | g.112016703C>G | CA382589889 | DIXDC1 | c.1769C>G (p.Ser590Ter) n.765C>G c.1136C>G (p.Ser379Ter) n.1122C>G c.1766C>G (p.Ser589Ter) c.887C>G (p.Ser296Ter) c.881C>G (p.Ser294Ter) c.1661C>G (p.Ser554Ter) c.1658C>G (p.Ser553Ter) | |
11 | g.112016703C>T | CA382589888 | DIXDC1 | c.1769C>T (p.Ser590Leu) n.765C>T c.1136C>T (p.Ser379Leu) n.1122C>T c.1766C>T (p.Ser589Leu) c.887C>T (p.Ser296Leu) c.881C>T (p.Ser294Leu) c.1661C>T (p.Ser554Leu) c.1658C>T (p.Ser553Leu) | |
11 | g.112016705_112016706del | CA6276420 | DIXDC1 | c.1771_1772del (p.Gln591GlufsTer11) n.767_768del c.1138_1139del (p.Gln380GlufsTer11) n.1124_1125del c.1768_1769del (p.Gln590GlufsTer11) c.889_890del (p.Gln297GlufsTer11) c.883_884del (p.Gln295GlufsTer11) c.1663_1664del (p.Gln555GlufsTer11) c.1660_1661del (p.Gln554GlufsTer11) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016704A>C | CA476785554 | DIXDC1 | c.1770A>C (p.Ser590=) n.766A>C c.1137A>C (p.Ser379=) n.1123A>C c.1767A>C (p.Ser589=) c.888A>C (p.Ser296=) c.882A>C (p.Ser294=) c.1662A>C (p.Ser554=) c.1659A>C (p.Ser553=) | |
11 | g.112016704A>G | CA476785555 | DIXDC1 | c.1770A>G (p.Ser590=) n.766A>G c.1137A>G (p.Ser379=) n.1123A>G c.1767A>G (p.Ser589=) c.888A>G (p.Ser296=) c.882A>G (p.Ser294=) c.1662A>G (p.Ser554=) c.1659A>G (p.Ser553=) | |
11 | g.112016704A>T | CA476785557 | DIXDC1 | c.1770A>T (p.Ser590=) n.766A>T c.1137A>T (p.Ser379=) n.1123A>T c.1767A>T (p.Ser589=) c.888A>T (p.Ser296=) c.882A>T (p.Ser294=) c.1662A>T (p.Ser554=) c.1659A>T (p.Ser553=) | |
11 | g.112016705C>A | CA382589895 | DIXDC1 | c.1771C>A (p.Gln591Lys) n.767C>A c.1138C>A (p.Gln380Lys) n.1124C>A c.1768C>A (p.Gln590Lys) c.889C>A (p.Gln297Lys) c.883C>A (p.Gln295Lys) c.1663C>A (p.Gln555Lys) c.1660C>A (p.Gln554Lys) | |
11 | g.112016705C>G | CA382589899 | DIXDC1 | c.1771C>G (p.Gln591Glu) n.767C>G c.1138C>G (p.Gln380Glu) n.1124C>G c.1768C>G (p.Gln590Glu) c.889C>G (p.Gln297Glu) c.883C>G (p.Gln295Glu) c.1663C>G (p.Gln555Glu) c.1660C>G (p.Gln554Glu) | |
11 | g.112016705C>T | CA382589902 | DIXDC1 | c.1771C>T (p.Gln591Ter) n.767C>T c.1138C>T (p.Gln380Ter) n.1124C>T c.1768C>T (p.Gln590Ter) c.889C>T (p.Gln297Ter) c.883C>T (p.Gln295Ter) c.1663C>T (p.Gln555Ter) c.1660C>T (p.Gln554Ter) | |
11 | g.112016706A>C | CA382589905 | DIXDC1 | c.1772A>C (p.Gln591Pro) n.768A>C c.1139A>C (p.Gln380Pro) n.1125A>C c.1769A>C (p.Gln590Pro) c.890A>C (p.Gln297Pro) c.884A>C (p.Gln295Pro) c.1664A>C (p.Gln555Pro) c.1661A>C (p.Gln554Pro) | |
11 | g.112016706A>G | CA382589910 | DIXDC1 | c.1772A>G (p.Gln591Arg) n.768A>G c.1139A>G (p.Gln380Arg) n.1125A>G c.1769A>G (p.Gln590Arg) c.890A>G (p.Gln297Arg) c.884A>G (p.Gln295Arg) c.1664A>G (p.Gln555Arg) c.1661A>G (p.Gln554Arg) | gnomAD v4 |
11 | g.112016706A>T | CA382589913 | DIXDC1 | c.1772A>T (p.Gln591Leu) n.768A>T c.1139A>T (p.Gln380Leu) n.1125A>T c.1769A>T (p.Gln590Leu) c.890A>T (p.Gln297Leu) c.884A>T (p.Gln295Leu) c.1664A>T (p.Gln555Leu) c.1661A>T (p.Gln554Leu) | |
11 | g.112016707G>A | CA476785558 | DIXDC1 | c.1773G>A (p.Gln591=) n.769G>A c.1140G>A (p.Gln380=) n.1126G>A c.1770G>A (p.Gln590=) c.891G>A (p.Gln297=) c.885G>A (p.Gln295=) c.1665G>A (p.Gln555=) c.1662G>A (p.Gln554=) | |
11 | g.112016707G>C | CA382589916 | DIXDC1 | c.1773G>C (p.Gln591His) n.769G>C c.1140G>C (p.Gln380His) n.1126G>C c.1770G>C (p.Gln590His) c.891G>C (p.Gln297His) c.885G>C (p.Gln295His) c.1665G>C (p.Gln555His) c.1662G>C (p.Gln554His) | |
11 | g.112016707G>T | CA382589918 | DIXDC1 | c.1773G>T (p.Gln591His) n.769G>T c.1140G>T (p.Gln380His) n.1126G>T c.1770G>T (p.Gln590His) c.891G>T (p.Gln297His) c.885G>T (p.Gln295His) c.1665G>T (p.Gln555His) c.1662G>T (p.Gln554His) | |
11 | g.112016708A= | CA2000524043 | DIXDC1 | c.1774A= (p.Ser592=) n.770A= c.1141A= (p.Ser381=) n.1127A= c.1771A= (p.Ser591=) c.892A= (p.Ser298=) c.886A= (p.Ser296=) c.1666A= (p.Ser556=) c.1663A= (p.Ser555=) | |
11 | g.112016708A>C | CA382589919 | DIXDC1 | c.1774A>C (p.Ser592Arg) n.770A>C c.1141A>C (p.Ser381Arg) n.1127A>C c.1771A>C (p.Ser591Arg) c.892A>C (p.Ser298Arg) c.886A>C (p.Ser296Arg) c.1666A>C (p.Ser556Arg) c.1663A>C (p.Ser555Arg) | |
11 | g.112016708A>G | CA382589920 | DIXDC1 | c.1774A>G (p.Ser592Gly) n.770A>G c.1141A>G (p.Ser381Gly) n.1127A>G c.1771A>G (p.Ser591Gly) c.892A>G (p.Ser298Gly) c.886A>G (p.Ser296Gly) c.1666A>G (p.Ser556Gly) c.1663A>G (p.Ser555Gly) | dbSNP |
11 | g.112016708A>T | CA382589922 | DIXDC1 | c.1774A>T (p.Ser592Cys) n.770A>T c.1141A>T (p.Ser381Cys) n.1127A>T c.1771A>T (p.Ser591Cys) c.892A>T (p.Ser298Cys) c.886A>T (p.Ser296Cys) c.1666A>T (p.Ser556Cys) c.1663A>T (p.Ser555Cys) | |
11 | g.112016709G>A | CA382589932 | DIXDC1 | c.1775G>A (p.Ser592Asn) n.771G>A c.1142G>A (p.Ser381Asn) n.1128G>A c.1772G>A (p.Ser591Asn) c.893G>A (p.Ser298Asn) c.887G>A (p.Ser296Asn) c.1667G>A (p.Ser556Asn) c.1664G>A (p.Ser555Asn) | gnomAD v4 |
11 | g.112016709G>C | CA382589930 | DIXDC1 | c.1775G>C (p.Ser592Thr) n.771G>C c.1142G>C (p.Ser381Thr) n.1128G>C c.1772G>C (p.Ser591Thr) c.893G>C (p.Ser298Thr) c.887G>C (p.Ser296Thr) c.1667G>C (p.Ser556Thr) c.1664G>C (p.Ser555Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.112016709G= | CA2000524044 | DIXDC1 | c.1775G= (p.Ser592=) n.771G= c.1142G= (p.Ser381=) n.1128G= c.1772G= (p.Ser591=) c.893G= (p.Ser298=) c.887G= (p.Ser296=) c.1667G= (p.Ser556=) c.1664G= (p.Ser555=) | |
11 | g.112016709G>T | CA382589927 | DIXDC1 | c.1775G>T (p.Ser592Ile) n.771G>T c.1142G>T (p.Ser381Ile) n.1128G>T c.1772G>T (p.Ser591Ile) c.893G>T (p.Ser298Ile) c.887G>T (p.Ser296Ile) c.1667G>T (p.Ser556Ile) c.1664G>T (p.Ser555Ile) | |
11 | g.112016710C>A | CA382589934 | DIXDC1 | c.1776C>A (p.Ser592Arg) n.772C>A c.1143C>A (p.Ser381Arg) n.1129C>A c.1773C>A (p.Ser591Arg) c.894C>A (p.Ser298Arg) c.888C>A (p.Ser296Arg) c.1668C>A (p.Ser556Arg) c.1665C>A (p.Ser555Arg) | |
11 | g.112016710C>G | CA382589935 | DIXDC1 | c.1776C>G (p.Ser592Arg) n.772C>G c.1143C>G (p.Ser381Arg) n.1129C>G c.1773C>G (p.Ser591Arg) c.894C>G (p.Ser298Arg) c.888C>G (p.Ser296Arg) c.1668C>G (p.Ser556Arg) c.1665C>G (p.Ser555Arg) | |
11 | g.112016710C>T | CA476785562 | DIXDC1 | c.1776C>T (p.Ser592=) n.772C>T c.1143C>T (p.Ser381=) n.1129C>T c.1773C>T (p.Ser591=) c.894C>T (p.Ser298=) c.888C>T (p.Ser296=) c.1668C>T (p.Ser556=) c.1665C>T (p.Ser555=) | |
11 | g.112016710_112016711delinsCT | CA2000524045 | DIXDC1 | c.1776_1777delinsCT (p.Ser592=) n.772_773delinsCT c.1143_1144delinsCT (p.Ser381=) n.1129_1130delinsCT c.1773_1774delinsCT (p.Ser591=) c.894_895delinsCT (p.Ser298=) c.888_889delinsCT (p.Ser296=) c.1668_1669delinsCT (p.Ser556=) c.1665_1666delinsCT (p.Ser555=) | |
11 | g.112016711del | CA601734650 | DIXDC1 | c.1777del (p.Ser593LeufsTer?) n.773del c.1144del (p.Ser382LeufsTer?) n.1130del c.1774del (p.Ser592LeufsTer?) c.895del (p.Ser299LeufsTer?) c.889del (p.Ser297LeufsTer?) c.1669del (p.Ser557LeufsTer?) c.1666del (p.Ser556LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.112016711T>A | CA382589943 | DIXDC1 | c.1777T>A (p.Ser593Thr) n.773T>A c.1144T>A (p.Ser382Thr) n.1130T>A c.1774T>A (p.Ser592Thr) c.895T>A (p.Ser299Thr) c.889T>A (p.Ser297Thr) c.1669T>A (p.Ser557Thr) c.1666T>A (p.Ser556Thr) | |
11 | g.112016711T>C | CA382589946 | DIXDC1 | c.1777T>C (p.Ser593Pro) n.773T>C c.1144T>C (p.Ser382Pro) n.1130T>C c.1774T>C (p.Ser592Pro) c.895T>C (p.Ser299Pro) c.889T>C (p.Ser297Pro) c.1669T>C (p.Ser557Pro) c.1666T>C (p.Ser556Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016711T>G | CA382589949 | DIXDC1 | c.1777T>G (p.Ser593Ala) n.773T>G c.1144T>G (p.Ser382Ala) n.1130T>G c.1774T>G (p.Ser592Ala) c.895T>G (p.Ser299Ala) c.889T>G (p.Ser297Ala) c.1669T>G (p.Ser557Ala) c.1666T>G (p.Ser556Ala) | |
11 | g.112016711T= | CA2000524046 | DIXDC1 | c.1777T= (p.Ser593=) n.773T= c.1144T= (p.Ser382=) n.1130T= c.1774T= (p.Ser592=) c.895T= (p.Ser299=) c.889T= (p.Ser297=) c.1669T= (p.Ser557=) c.1666T= (p.Ser556=) | |
11 | g.112016712C>A | CA382589951 | DIXDC1 | c.1778C>A (p.Ser593Tyr) n.774C>A c.1145C>A (p.Ser382Tyr) n.1131C>A c.1775C>A (p.Ser592Tyr) c.896C>A (p.Ser299Tyr) c.890C>A (p.Ser297Tyr) c.1670C>A (p.Ser557Tyr) c.1667C>A (p.Ser556Tyr) | gnomAD v4 |
11 | g.112016712C= | CA2000524047 | DIXDC1 | c.1778C= (p.Ser593=) n.774C= c.1145C= (p.Ser382=) n.1131C= c.1775C= (p.Ser592=) c.896C= (p.Ser299=) c.890C= (p.Ser297=) c.1670C= (p.Ser557=) c.1667C= (p.Ser556=) | |
11 | g.112016712C>G | CA382589952 | DIXDC1 | c.1778C>G (p.Ser593Cys) n.774C>G c.1145C>G (p.Ser382Cys) n.1131C>G c.1775C>G (p.Ser592Cys) c.896C>G (p.Ser299Cys) c.890C>G (p.Ser297Cys) c.1670C>G (p.Ser557Cys) c.1667C>G (p.Ser556Cys) | |
11 | g.112016712C>T | CA382589956 | DIXDC1 | c.1778C>T (p.Ser593Phe) n.774C>T c.1145C>T (p.Ser382Phe) n.1131C>T c.1775C>T (p.Ser592Phe) c.896C>T (p.Ser299Phe) c.890C>T (p.Ser297Phe) c.1670C>T (p.Ser557Phe) c.1667C>T (p.Ser556Phe) | dbSNP |
11 | g.112016713T>A | CA476785563 | DIXDC1 | c.1779T>A (p.Ser593=) n.775T>A c.1146T>A (p.Ser382=) n.1132T>A c.1776T>A (p.Ser592=) c.897T>A (p.Ser299=) c.891T>A (p.Ser297=) c.1671T>A (p.Ser557=) c.1668T>A (p.Ser556=) | |
11 | g.112016713T>C | CA476785564 | DIXDC1 | c.1779T>C (p.Ser593=) n.775T>C c.1146T>C (p.Ser382=) n.1132T>C c.1776T>C (p.Ser592=) c.897T>C (p.Ser299=) c.891T>C (p.Ser297=) c.1671T>C (p.Ser557=) c.1668T>C (p.Ser556=) | gnomAD v4 |
11 | g.112016713T>G | CA476785565 | DIXDC1 | c.1779T>G (p.Ser593=) n.775T>G c.1146T>G (p.Ser382=) n.1132T>G c.1776T>G (p.Ser592=) c.897T>G (p.Ser299=) c.891T>G (p.Ser297=) c.1671T>G (p.Ser557=) c.1668T>G (p.Ser556=) | gnomAD v4 |
11 | g.112016714C>A | CA382589960 | DIXDC1 | c.1780C>A (p.Pro594Thr) n.776C>A c.1147C>A (p.Pro383Thr) n.1133C>A c.1777C>A (p.Pro593Thr) c.898C>A (p.Pro300Thr) c.892C>A (p.Pro298Thr) c.1672C>A (p.Pro558Thr) c.1669C>A (p.Pro557Thr) | |
11 | g.112016714C>G | CA382589963 | DIXDC1 | c.1780C>G (p.Pro594Ala) n.776C>G c.1147C>G (p.Pro383Ala) n.1133C>G c.1777C>G (p.Pro593Ala) c.898C>G (p.Pro300Ala) c.892C>G (p.Pro298Ala) c.1672C>G (p.Pro558Ala) c.1669C>G (p.Pro557Ala) | |
11 | g.112016714C>T | CA382589975 | DIXDC1 | c.1780C>T (p.Pro594Ser) n.776C>T c.1147C>T (p.Pro383Ser) n.1133C>T c.1777C>T (p.Pro593Ser) c.898C>T (p.Pro300Ser) c.892C>T (p.Pro298Ser) c.1672C>T (p.Pro558Ser) c.1669C>T (p.Pro557Ser) | |
11 | g.112016715C>A | CA382589982 | DIXDC1 | c.1781C>A (p.Pro594Gln) n.777C>A c.1148C>A (p.Pro383Gln) n.1134C>A c.1778C>A (p.Pro593Gln) c.899C>A (p.Pro300Gln) c.893C>A (p.Pro298Gln) c.1673C>A (p.Pro558Gln) c.1670C>A (p.Pro557Gln) | |
11 | g.112016715C>G | CA382589978 | DIXDC1 | c.1781C>G (p.Pro594Arg) n.777C>G c.1148C>G (p.Pro383Arg) n.1134C>G c.1778C>G (p.Pro593Arg) c.899C>G (p.Pro300Arg) c.893C>G (p.Pro298Arg) c.1673C>G (p.Pro558Arg) c.1670C>G (p.Pro557Arg) | |
11 | g.112016715C>T | CA382589977 | DIXDC1 | c.1781C>T (p.Pro594Leu) n.777C>T c.1148C>T (p.Pro383Leu) n.1134C>T c.1778C>T (p.Pro593Leu) c.899C>T (p.Pro300Leu) c.893C>T (p.Pro298Leu) c.1673C>T (p.Pro558Leu) c.1670C>T (p.Pro557Leu) | |
11 | g.112016716A= | CA2000524048 | DIXDC1 | c.1782A= (p.Pro594=) n.778A= c.1149A= (p.Pro383=) n.1135A= c.1779A= (p.Pro593=) c.900A= (p.Pro300=) c.894A= (p.Pro298=) c.1674A= (p.Pro558=) c.1671A= (p.Pro557=) | |
11 | g.112016716A>C | CA476785566 | DIXDC1 | c.1782A>C (p.Pro594=) n.778A>C c.1149A>C (p.Pro383=) n.1135A>C c.1779A>C (p.Pro593=) c.900A>C (p.Pro300=) c.894A>C (p.Pro298=) c.1674A>C (p.Pro558=) c.1671A>C (p.Pro557=) | |
11 | g.112016716A>G | CA6276421 | DIXDC1 | c.1782A>G (p.Pro594=) n.778A>G c.1149A>G (p.Pro383=) n.1135A>G c.1779A>G (p.Pro593=) c.900A>G (p.Pro300=) c.894A>G (p.Pro298=) c.1674A>G (p.Pro558=) c.1671A>G (p.Pro557=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.112016716A>T | CA476785567 | DIXDC1 | c.1782A>T (p.Pro594=) n.778A>T c.1149A>T (p.Pro383=) n.1135A>T c.1779A>T (p.Pro593=) c.900A>T (p.Pro300=) c.894A>T (p.Pro298=) c.1674A>T (p.Pro558=) c.1671A>T (p.Pro557=) | |
11 | g.112016717A= | CA2000524049 | DIXDC1 | c.1783A= (p.Thr595=) n.779A= c.1150A= (p.Thr384=) n.1136A= c.1780A= (p.Thr594=) c.901A= (p.Thr301=) c.895A= (p.Thr299=) c.1675A= (p.Thr559=) c.1672A= (p.Thr558=) | |
11 | g.112016717A>C | CA382589992 | DIXDC1 | c.1783A>C (p.Thr595Pro) n.779A>C c.1150A>C (p.Thr384Pro) n.1136A>C c.1780A>C (p.Thr594Pro) c.901A>C (p.Thr301Pro) c.895A>C (p.Thr299Pro) c.1675A>C (p.Thr559Pro) c.1672A>C (p.Thr558Pro) | |
11 | g.112016717A>G | CA382590011 | DIXDC1 | c.1783A>G (p.Thr595Ala) n.779A>G c.1150A>G (p.Thr384Ala) n.1136A>G c.1780A>G (p.Thr594Ala) c.901A>G (p.Thr301Ala) c.895A>G (p.Thr299Ala) c.1675A>G (p.Thr559Ala) c.1672A>G (p.Thr558Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016717A>T | CA382590014 | DIXDC1 | c.1783A>T (p.Thr595Ser) n.779A>T c.1150A>T (p.Thr384Ser) n.1136A>T c.1780A>T (p.Thr594Ser) c.901A>T (p.Thr301Ser) c.895A>T (p.Thr299Ser) c.1675A>T (p.Thr559Ser) c.1672A>T (p.Thr558Ser) | |
11 | g.112016718C>A | CA382590019 | DIXDC1 | c.1784C>A (p.Thr595Asn) n.780C>A c.1151C>A (p.Thr384Asn) n.1137C>A c.1781C>A (p.Thr594Asn) c.902C>A (p.Thr301Asn) c.896C>A (p.Thr299Asn) c.1676C>A (p.Thr559Asn) c.1673C>A (p.Thr558Asn) | |
11 | g.112016718C>G | CA382590021 | DIXDC1 | c.1784C>G (p.Thr595Ser) n.780C>G c.1151C>G (p.Thr384Ser) n.1137C>G c.1781C>G (p.Thr594Ser) c.902C>G (p.Thr301Ser) c.896C>G (p.Thr299Ser) c.1676C>G (p.Thr559Ser) c.1673C>G (p.Thr558Ser) | |
11 | g.112016718C>T | CA382590026 | DIXDC1 | c.1784C>T (p.Thr595Ile) n.780C>T c.1151C>T (p.Thr384Ile) n.1137C>T c.1781C>T (p.Thr594Ile) c.902C>T (p.Thr301Ile) c.896C>T (p.Thr299Ile) c.1676C>T (p.Thr559Ile) c.1673C>T (p.Thr558Ile) | |
11 | g.112016719T>A | CA476785568 | DIXDC1 | c.1785T>A (p.Thr595=) n.781T>A c.1152T>A (p.Thr384=) n.1138T>A c.1782T>A (p.Thr594=) c.903T>A (p.Thr301=) c.897T>A (p.Thr299=) c.1677T>A (p.Thr559=) c.1674T>A (p.Thr558=) | |
11 | g.112016719T>C | CA476785569 | DIXDC1 | c.1785T>C (p.Thr595=) n.781T>C c.1152T>C (p.Thr384=) n.1138T>C c.1782T>C (p.Thr594=) c.903T>C (p.Thr301=) c.897T>C (p.Thr299=) c.1677T>C (p.Thr559=) c.1674T>C (p.Thr558=) | |
11 | g.112016719T>G | CA476785570 | DIXDC1 | c.1785T>G (p.Thr595=) n.781T>G c.1152T>G (p.Thr384=) n.1138T>G c.1782T>G (p.Thr594=) c.903T>G (p.Thr301=) c.897T>G (p.Thr299=) c.1677T>G (p.Thr559=) c.1674T>G (p.Thr558=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.112016719T= | CA2000524050 | DIXDC1 | c.1785T= (p.Thr595=) n.781T= c.1152T= (p.Thr384=) n.1138T= c.1782T= (p.Thr594=) c.903T= (p.Thr301=) c.897T= (p.Thr299=) c.1677T= (p.Thr559=) c.1674T= (p.Thr558=) | |
11 | g.112016720G>A | CA382590031 | DIXDC1 | c.1786G>A (p.Val596Ile) n.782G>A c.1153G>A (p.Val385Ile) n.1139G>A c.1783G>A (p.Val595Ile) c.904G>A (p.Val302Ile) c.898G>A (p.Val300Ile) c.1678G>A (p.Val560Ile) c.1675G>A (p.Val559Ile) | |
11 | g.112016720G>C | CA382590046 | DIXDC1 | c.1786G>C (p.Val596Leu) n.782G>C c.1153G>C (p.Val385Leu) n.1139G>C c.1783G>C (p.Val595Leu) c.904G>C (p.Val302Leu) c.898G>C (p.Val300Leu) c.1678G>C (p.Val560Leu) c.1675G>C (p.Val559Leu) | |
11 | g.112016720G>T | CA382590057 | DIXDC1 | c.1786G>T (p.Val596Phe) n.782G>T c.1153G>T (p.Val385Phe) n.1139G>T c.1783G>T (p.Val595Phe) c.904G>T (p.Val302Phe) c.898G>T (p.Val300Phe) c.1678G>T (p.Val560Phe) c.1675G>T (p.Val559Phe) | |
11 | g.112016721T>A | CA382590062 | DIXDC1 | c.1787T>A (p.Val596Asp) n.783T>A c.1154T>A (p.Val385Asp) n.1140T>A c.1784T>A (p.Val595Asp) c.905T>A (p.Val302Asp) c.899T>A (p.Val300Asp) c.1679T>A (p.Val560Asp) c.1676T>A (p.Val559Asp) | |
11 | g.112016721T>C | CA382590066 | DIXDC1 | c.1787T>C (p.Val596Ala) n.783T>C c.1154T>C (p.Val385Ala) n.1140T>C c.1784T>C (p.Val595Ala) c.905T>C (p.Val302Ala) c.899T>C (p.Val300Ala) c.1679T>C (p.Val560Ala) c.1676T>C (p.Val559Ala) | gnomAD v4 |
11 | g.112016721T>G | CA382590068 | DIXDC1 | c.1787T>G (p.Val596Gly) n.783T>G c.1154T>G (p.Val385Gly) n.1140T>G c.1784T>G (p.Val595Gly) c.905T>G (p.Val302Gly) c.899T>G (p.Val300Gly) c.1679T>G (p.Val560Gly) c.1676T>G (p.Val559Gly) | |
11 | g.112016722C>A | CA476785571 | DIXDC1 | c.1788C>A (p.Val596=) n.784C>A c.1155C>A (p.Val385=) n.1141C>A c.1785C>A (p.Val595=) c.906C>A (p.Val302=) c.900C>A (p.Val300=) c.1680C>A (p.Val560=) c.1677C>A (p.Val559=) | |
11 | g.112016722C>G | CA476785572 | DIXDC1 | c.1788C>G (p.Val596=) n.784C>G c.1155C>G (p.Val385=) n.1141C>G c.1785C>G (p.Val595=) c.906C>G (p.Val302=) c.900C>G (p.Val300=) c.1680C>G (p.Val560=) c.1677C>G (p.Val559=) | |
11 | g.112016722C>T | CA476785573 | DIXDC1 | c.1788C>T (p.Val596=) n.784C>T c.1155C>T (p.Val385=) n.1141C>T c.1785C>T (p.Val595=) c.906C>T (p.Val302=) c.900C>T (p.Val300=) c.1680C>T (p.Val560=) c.1677C>T (p.Val559=) | gnomAD v4 |
11 | g.112016723A>C | CA382590096 | DIXDC1 | c.1789A>C (p.Ser597Arg) n.785A>C c.1156A>C (p.Ser386Arg) n.1142A>C c.1786A>C (p.Ser596Arg) c.907A>C (p.Ser303Arg) c.901A>C (p.Ser301Arg) c.1681A>C (p.Ser561Arg) c.1678A>C (p.Ser560Arg) | |
11 | g.112016723A>G | CA382590093 | DIXDC1 | c.1789A>G (p.Ser597Gly) n.785A>G c.1156A>G (p.Ser386Gly) n.1142A>G c.1786A>G (p.Ser596Gly) c.907A>G (p.Ser303Gly) c.901A>G (p.Ser301Gly) c.1681A>G (p.Ser561Gly) c.1678A>G (p.Ser560Gly) | |
11 | g.112016723A>T | CA382590082 | DIXDC1 | c.1789A>T (p.Ser597Cys) n.785A>T c.1156A>T (p.Ser386Cys) n.1142A>T c.1786A>T (p.Ser596Cys) c.907A>T (p.Ser303Cys) c.901A>T (p.Ser301Cys) c.1681A>T (p.Ser561Cys) c.1678A>T (p.Ser560Cys) | |
11 | g.112016724G>A | CA382590110 | DIXDC1 | c.1790G>A (p.Ser597Asn) n.786G>A c.1157G>A (p.Ser386Asn) n.1143G>A c.1787G>A (p.Ser596Asn) c.908G>A (p.Ser303Asn) c.902G>A (p.Ser301Asn) c.1682G>A (p.Ser561Asn) c.1679G>A (p.Ser560Asn) | |
11 | g.112016724G>C | CA382590101 | DIXDC1 | c.1790G>C (p.Ser597Thr) n.786G>C c.1157G>C (p.Ser386Thr) n.1143G>C c.1787G>C (p.Ser596Thr) c.908G>C (p.Ser303Thr) c.902G>C (p.Ser301Thr) c.1682G>C (p.Ser561Thr) c.1679G>C (p.Ser560Thr) | |
11 | g.112016724G>T | CA382590113 | DIXDC1 | c.1790G>T (p.Ser597Ile) n.786G>T c.1157G>T (p.Ser386Ile) n.1143G>T c.1787G>T (p.Ser596Ile) c.908G>T (p.Ser303Ile) c.902G>T (p.Ser301Ile) c.1682G>T (p.Ser561Ile) c.1679G>T (p.Ser560Ile) | |
11 | g.112016725C>A | CA382590121 | DIXDC1 | c.1791C>A (p.Ser597Arg) n.787C>A c.1158C>A (p.Ser386Arg) n.1144C>A c.1788C>A (p.Ser596Arg) c.909C>A (p.Ser303Arg) c.903C>A (p.Ser301Arg) c.1683C>A (p.Ser561Arg) c.1680C>A (p.Ser560Arg) | |
11 | g.112016725C>G | CA382590125 | DIXDC1 | c.1791C>G (p.Ser597Arg) n.787C>G c.1158C>G (p.Ser386Arg) n.1144C>G c.1788C>G (p.Ser596Arg) c.909C>G (p.Ser303Arg) c.903C>G (p.Ser301Arg) c.1683C>G (p.Ser561Arg) c.1680C>G (p.Ser560Arg) | |
11 | g.112016725C>T | CA476785574 | DIXDC1 | c.1791C>T (p.Ser597=) n.787C>T c.1158C>T (p.Ser386=) n.1144C>T c.1788C>T (p.Ser596=) c.909C>T (p.Ser303=) c.903C>T (p.Ser301=) c.1683C>T (p.Ser561=) c.1680C>T (p.Ser560=) | gnomAD v4 |
11 | g.112016726A>C | CA382590128 | DIXDC1 | c.1792A>C (p.Ser598Arg) n.788A>C c.1159A>C (p.Ser387Arg) n.1145A>C c.1789A>C (p.Ser597Arg) c.910A>C (p.Ser304Arg) c.904A>C (p.Ser302Arg) c.1684A>C (p.Ser562Arg) c.1681A>C (p.Ser561Arg) | |
11 | g.112016726A>G | CA382590132 | DIXDC1 | c.1792A>G (p.Ser598Gly) n.788A>G c.1159A>G (p.Ser387Gly) n.1145A>G c.1789A>G (p.Ser597Gly) c.910A>G (p.Ser304Gly) c.904A>G (p.Ser302Gly) c.1684A>G (p.Ser562Gly) c.1681A>G (p.Ser561Gly) | gnomAD v4 |
11 | g.112016726A>T | CA382590140 | DIXDC1 | c.1792A>T (p.Ser598Cys) n.788A>T c.1159A>T (p.Ser387Cys) n.1145A>T c.1789A>T (p.Ser597Cys) c.910A>T (p.Ser304Cys) c.904A>T (p.Ser302Cys) c.1684A>T (p.Ser562Cys) c.1681A>T (p.Ser561Cys) | |
11 | g.112016727G>A | CA382590145 | DIXDC1 | c.1793G>A (p.Ser598Asn) n.789G>A c.1160G>A (p.Ser387Asn) n.1146G>A c.1790G>A (p.Ser597Asn) c.911G>A (p.Ser304Asn) c.905G>A (p.Ser302Asn) c.1685G>A (p.Ser562Asn) c.1682G>A (p.Ser561Asn) | |
11 | g.112016727G>C | CA382590146 | DIXDC1 | c.1793G>C (p.Ser598Thr) n.789G>C c.1160G>C (p.Ser387Thr) n.1146G>C c.1790G>C (p.Ser597Thr) c.911G>C (p.Ser304Thr) c.905G>C (p.Ser302Thr) c.1685G>C (p.Ser562Thr) c.1682G>C (p.Ser561Thr) | |
11 | g.112016727G>T | CA382590147 | DIXDC1 | c.1793G>T (p.Ser598Ile) n.789G>T c.1160G>T (p.Ser387Ile) n.1146G>T c.1790G>T (p.Ser597Ile) c.911G>T (p.Ser304Ile) c.905G>T (p.Ser302Ile) c.1685G>T (p.Ser562Ile) c.1682G>T (p.Ser561Ile) | |
11 | g.112016728C>A | CA382590150 | DIXDC1 | c.1794C>A (p.Ser598Arg) n.790C>A c.1161C>A (p.Ser387Arg) n.1147C>A c.1791C>A (p.Ser597Arg) c.912C>A (p.Ser304Arg) c.906C>A (p.Ser302Arg) c.1686C>A (p.Ser562Arg) c.1683C>A (p.Ser561Arg) | |
11 | g.112016728C>G | CA382590154 | DIXDC1 | c.1794C>G (p.Ser598Arg) n.790C>G c.1161C>G (p.Ser387Arg) n.1147C>G c.1791C>G (p.Ser597Arg) c.912C>G (p.Ser304Arg) c.906C>G (p.Ser302Arg) c.1686C>G (p.Ser562Arg) c.1683C>G (p.Ser561Arg) | gnomAD v4 |
11 | g.112016728C>T | CA476785575 | DIXDC1 | c.1794C>T (p.Ser598=) n.790C>T c.1161C>T (p.Ser387=) n.1147C>T c.1791C>T (p.Ser597=) c.912C>T (p.Ser304=) c.906C>T (p.Ser302=) c.1686C>T (p.Ser562=) c.1683C>T (p.Ser561=) | |
11 | g.112016729A= | CA2000524051 | DIXDC1 | c.1795A= (p.Thr599=) n.791A= c.1162A= (p.Thr388=) n.1148A= c.1792A= (p.Thr598=) c.913A= (p.Thr305=) c.907A= (p.Thr303=) c.1687A= (p.Thr563=) c.1684A= (p.Thr562=) | |
11 | g.112016729A>C | CA382590157 | DIXDC1 | c.1795A>C (p.Thr599Pro) n.791A>C c.1162A>C (p.Thr388Pro) n.1148A>C c.1792A>C (p.Thr598Pro) c.913A>C (p.Thr305Pro) c.907A>C (p.Thr303Pro) c.1687A>C (p.Thr563Pro) c.1684A>C (p.Thr562Pro) | |
11 | g.112016729A>G | CA382590162 | DIXDC1 | c.1795A>G (p.Thr599Ala) n.791A>G c.1162A>G (p.Thr388Ala) n.1148A>G c.1792A>G (p.Thr598Ala) c.913A>G (p.Thr305Ala) c.907A>G (p.Thr303Ala) c.1687A>G (p.Thr563Ala) c.1684A>G (p.Thr562Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016729A>T | CA382590165 | DIXDC1 | c.1795A>T (p.Thr599Ser) n.791A>T c.1162A>T (p.Thr388Ser) n.1148A>T c.1792A>T (p.Thr598Ser) c.913A>T (p.Thr305Ser) c.907A>T (p.Thr303Ser) c.1687A>T (p.Thr563Ser) c.1684A>T (p.Thr562Ser) | |
11 | g.112016730C>A | CA382590174 | DIXDC1 | c.1796C>A (p.Thr599Asn) n.792C>A c.1163C>A (p.Thr388Asn) n.1149C>A c.1793C>A (p.Thr598Asn) c.914C>A (p.Thr305Asn) c.908C>A (p.Thr303Asn) c.1688C>A (p.Thr563Asn) c.1685C>A (p.Thr562Asn) | |
11 | g.112016730C>G | CA382590169 | DIXDC1 | c.1796C>G (p.Thr599Ser) n.792C>G c.1163C>G (p.Thr388Ser) n.1149C>G c.1793C>G (p.Thr598Ser) c.914C>G (p.Thr305Ser) c.908C>G (p.Thr303Ser) c.1688C>G (p.Thr563Ser) c.1685C>G (p.Thr562Ser) | gnomAD v4 |
11 | g.112016730C>T | CA382590171 | DIXDC1 | c.1796C>T (p.Thr599Ile) n.792C>T c.1163C>T (p.Thr388Ile) n.1149C>T c.1793C>T (p.Thr598Ile) c.914C>T (p.Thr305Ile) c.908C>T (p.Thr303Ile) c.1688C>T (p.Thr563Ile) c.1685C>T (p.Thr562Ile) | COSMIC |
11 | g.112016731C>A | CA476785578 | DIXDC1 | c.1797C>A (p.Thr599=) n.793C>A c.1164C>A (p.Thr388=) n.1150C>A c.1794C>A (p.Thr598=) c.915C>A (p.Thr305=) c.909C>A (p.Thr303=) c.1689C>A (p.Thr563=) c.1686C>A (p.Thr562=) | |
11 | g.112016731C>G | CA476785577 | DIXDC1 | c.1797C>G (p.Thr599=) n.793C>G c.1164C>G (p.Thr388=) n.1150C>G c.1794C>G (p.Thr598=) c.915C>G (p.Thr305=) c.909C>G (p.Thr303=) c.1689C>G (p.Thr563=) c.1686C>G (p.Thr562=) | |
11 | g.112016731C>T | CA476785576 | DIXDC1 | c.1797C>T (p.Thr599=) n.793C>T c.1164C>T (p.Thr388=) n.1150C>T c.1794C>T (p.Thr598=) c.915C>T (p.Thr305=) c.909C>T (p.Thr303=) c.1689C>T (p.Thr563=) c.1686C>T (p.Thr562=) | gnomAD v4 |
11 | g.112016732T>A | CA382590178 | DIXDC1 | c.1798T>A (p.Cys600Ser) n.794T>A c.1165T>A (p.Cys389Ser) n.1151T>A c.1795T>A (p.Cys599Ser) c.916T>A (p.Cys306Ser) c.910T>A (p.Cys304Ser) c.1690T>A (p.Cys564Ser) c.1687T>A (p.Cys563Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.112016732T>C | CA382590190 | DIXDC1 | c.1798T>C (p.Cys600Arg) n.794T>C c.1165T>C (p.Cys389Arg) n.1151T>C c.1795T>C (p.Cys599Arg) c.916T>C (p.Cys306Arg) c.910T>C (p.Cys304Arg) c.1690T>C (p.Cys564Arg) c.1687T>C (p.Cys563Arg) | dbSNP |
11 | g.112016732T>G | CA382590192 | DIXDC1 | c.1798T>G (p.Cys600Gly) n.794T>G c.1165T>G (p.Cys389Gly) n.1151T>G c.1795T>G (p.Cys599Gly) c.916T>G (p.Cys306Gly) c.910T>G (p.Cys304Gly) c.1690T>G (p.Cys564Gly) c.1687T>G (p.Cys563Gly) | |
11 | g.112016732T= | CA2000524052 | DIXDC1 | c.1798T= (p.Cys600=) n.794T= c.1165T= (p.Cys389=) n.1151T= c.1795T= (p.Cys599=) c.916T= (p.Cys306=) c.910T= (p.Cys304=) c.1690T= (p.Cys564=) c.1687T= (p.Cys563=) | |
11 | g.112016733G>A | CA382590193 | DIXDC1 | c.1799G>A (p.Cys600Tyr) n.795G>A c.1166G>A (p.Cys389Tyr) n.1152G>A c.1796G>A (p.Cys599Tyr) c.917G>A (p.Cys306Tyr) c.911G>A (p.Cys304Tyr) c.1691G>A (p.Cys564Tyr) c.1688G>A (p.Cys563Tyr) | |
11 | g.112016733G>C | CA382590194 | DIXDC1 | c.1799G>C (p.Cys600Ser) n.795G>C c.1166G>C (p.Cys389Ser) n.1152G>C c.1796G>C (p.Cys599Ser) c.917G>C (p.Cys306Ser) c.911G>C (p.Cys304Ser) c.1691G>C (p.Cys564Ser) c.1688G>C (p.Cys563Ser) | |
11 | g.112016733G= | CA2000524053 | DIXDC1 | c.1799G= (p.Cys600=) n.795G= c.1166G= (p.Cys389=) n.1152G= c.1796G= (p.Cys599=) c.917G= (p.Cys306=) c.911G= (p.Cys304=) c.1691G= (p.Cys564=) c.1688G= (p.Cys563=) | |
11 | g.112016733G>T | CA6276422 | DIXDC1 | c.1799G>T (p.Cys600Phe) n.795G>T c.1166G>T (p.Cys389Phe) n.1152G>T c.1796G>T (p.Cys599Phe) c.917G>T (p.Cys306Phe) c.911G>T (p.Cys304Phe) c.1691G>T (p.Cys564Phe) c.1688G>T (p.Cys563Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.112016734T>A | CA382590199 | DIXDC1 | c.1800T>A (p.Cys600Ter) n.796T>A c.1167T>A (p.Cys389Ter) n.1153T>A c.1797T>A (p.Cys599Ter) c.918T>A (p.Cys306Ter) c.912T>A (p.Cys304Ter) c.1692T>A (p.Cys564Ter) c.1689T>A (p.Cys563Ter) | |
11 | g.112016734T>C | CA476785579 | DIXDC1 | c.1800T>C (p.Cys600=) n.796T>C c.1167T>C (p.Cys389=) n.1153T>C c.1797T>C (p.Cys599=) c.918T>C (p.Cys306=) c.912T>C (p.Cys304=) c.1692T>C (p.Cys564=) c.1689T>C (p.Cys563=) | |
11 | g.112016734T>G | CA382590206 | DIXDC1 | c.1800T>G (p.Cys600Trp) n.796T>G c.1167T>G (p.Cys389Trp) n.1153T>G c.1797T>G (p.Cys599Trp) c.918T>G (p.Cys306Trp) c.912T>G (p.Cys304Trp) c.1692T>G (p.Cys564Trp) c.1689T>G (p.Cys563Trp) | |
11 | g.112016735A>C | CA382590212 | DIXDC1 | c.1801A>C (p.Thr601Pro) n.797A>C c.1168A>C (p.Thr390Pro) n.1154A>C c.1798A>C (p.Thr600Pro) c.919A>C (p.Thr307Pro) c.913A>C (p.Thr305Pro) c.1693A>C (p.Thr565Pro) c.1690A>C (p.Thr564Pro) | |
11 | g.112016735A>G | CA382590215 | DIXDC1 | c.1801A>G (p.Thr601Ala) n.797A>G c.1168A>G (p.Thr390Ala) n.1154A>G c.1798A>G (p.Thr600Ala) c.919A>G (p.Thr307Ala) c.913A>G (p.Thr305Ala) c.1693A>G (p.Thr565Ala) c.1690A>G (p.Thr564Ala) | gnomAD v4 |
11 | g.112016735A>T | CA382590218 | DIXDC1 | c.1801A>T (p.Thr601Ser) n.797A>T c.1168A>T (p.Thr390Ser) n.1154A>T c.1798A>T (p.Thr600Ser) c.919A>T (p.Thr307Ser) c.913A>T (p.Thr305Ser) c.1693A>T (p.Thr565Ser) c.1690A>T (p.Thr564Ser) | |
11 | g.112016735_112016736delinsAC | CA2000524054 | DIXDC1 | c.1801_1802delinsAC (p.Thr601=) n.797_798delinsAC c.1168_1169delinsAC (p.Thr390=) n.1154_1155delinsAC c.1798_1799delinsAC (p.Thr600=) c.919_920delinsAC (p.Thr307=) c.913_914delinsAC (p.Thr305=) c.1693_1694delinsAC (p.Thr565=) c.1690_1691delinsAC (p.Thr564=) | |
11 | g.112016736del | CA228536506 | DIXDC1 | c.1802del (p.Thr601IlefsTer25) n.798del c.1169del (p.Thr390IlefsTer25) n.1155del c.1799del (p.Thr600IlefsTer25) c.920del (p.Thr307IlefsTer25) c.914del (p.Thr305IlefsTer25) c.1694del (p.Thr565IlefsTer25) c.1691del (p.Thr564IlefsTer25) | dbSNP |
11 | g.112016736C>A | CA382590220 | DIXDC1 | c.1802C>A (p.Thr601Asn) n.798C>A c.1169C>A (p.Thr390Asn) n.1155C>A c.1799C>A (p.Thr600Asn) c.920C>A (p.Thr307Asn) c.914C>A (p.Thr305Asn) c.1694C>A (p.Thr565Asn) c.1691C>A (p.Thr564Asn) | |
11 | g.112016736C>G | CA382590219 | DIXDC1 | c.1802C>G (p.Thr601Ser) n.798C>G c.1169C>G (p.Thr390Ser) n.1155C>G c.1799C>G (p.Thr600Ser) c.920C>G (p.Thr307Ser) c.914C>G (p.Thr305Ser) c.1694C>G (p.Thr565Ser) c.1691C>G (p.Thr564Ser) | |
11 | g.112016736C>T | CA382590221 | DIXDC1 | c.1802C>T (p.Thr601Ile) n.798C>T c.1169C>T (p.Thr390Ile) n.1155C>T c.1799C>T (p.Thr600Ile) c.920C>T (p.Thr307Ile) c.914C>T (p.Thr305Ile) c.1694C>T (p.Thr565Ile) c.1691C>T (p.Thr564Ile) | |
11 | g.112016737T>A | CA476785582 | DIXDC1 | c.1803T>A (p.Thr601=) n.799T>A c.1170T>A (p.Thr390=) n.1156T>A c.1800T>A (p.Thr600=) c.921T>A (p.Thr307=) c.915T>A (p.Thr305=) c.1695T>A (p.Thr565=) c.1692T>A (p.Thr564=) | |
11 | g.112016737T>C | CA476785580 | DIXDC1 | c.1803T>C (p.Thr601=) n.799T>C c.1170T>C (p.Thr390=) n.1156T>C c.1800T>C (p.Thr600=) c.921T>C (p.Thr307=) c.915T>C (p.Thr305=) c.1695T>C (p.Thr565=) c.1692T>C (p.Thr564=) | |
11 | g.112016737T>G | CA476785581 | DIXDC1 | c.1803T>G (p.Thr601=) n.799T>G c.1170T>G (p.Thr390=) n.1156T>G c.1800T>G (p.Thr600=) c.921T>G (p.Thr307=) c.915T>G (p.Thr305=) c.1695T>G (p.Thr565=) c.1692T>G (p.Thr564=) | |
11 | g.112016738A>C | CA382590222 | DIXDC1 | c.1804A>C (p.Lys602Gln) n.800A>C c.1171A>C (p.Lys391Gln) n.1157A>C c.1801A>C (p.Lys601Gln) c.922A>C (p.Lys308Gln) c.916A>C (p.Lys306Gln) c.1696A>C (p.Lys566Gln) c.1693A>C (p.Lys565Gln) | dbSNP |
11 | g.112016738A>G | CA382590223 | DIXDC1 | c.1804A>G (p.Lys602Glu) n.800A>G c.1171A>G (p.Lys391Glu) n.1157A>G c.1801A>G (p.Lys601Glu) c.922A>G (p.Lys308Glu) c.916A>G (p.Lys306Glu) c.1696A>G (p.Lys566Glu) c.1693A>G (p.Lys565Glu) | |
11 | g.112016738A>T | CA382590225 | DIXDC1 | c.1804A>T (p.Lys602Ter) n.800A>T c.1171A>T (p.Lys391Ter) n.1157A>T c.1801A>T (p.Lys601Ter) c.922A>T (p.Lys308Ter) c.916A>T (p.Lys306Ter) c.1696A>T (p.Lys566Ter) c.1693A>T (p.Lys565Ter) | |
11 | g.112016739A>C | CA382590231 | DIXDC1 | c.1805A>C (p.Lys602Thr) n.801A>C c.1172A>C (p.Lys391Thr) n.1158A>C c.1802A>C (p.Lys601Thr) c.923A>C (p.Lys308Thr) c.917A>C (p.Lys306Thr) c.1697A>C (p.Lys566Thr) c.1694A>C (p.Lys565Thr) | |
11 | g.112016739A>G | CA382590232 | DIXDC1 | c.1805A>G (p.Lys602Arg) n.801A>G c.1172A>G (p.Lys391Arg) n.1158A>G c.1802A>G (p.Lys601Arg) c.923A>G (p.Lys308Arg) c.917A>G (p.Lys306Arg) c.1697A>G (p.Lys566Arg) c.1694A>G (p.Lys565Arg) | |
11 | g.112016739A>T | CA382590233 | DIXDC1 | c.1805A>T (p.Lys602Ile) n.801A>T c.1172A>T (p.Lys391Ile) n.1158A>T c.1802A>T (p.Lys601Ile) c.923A>T (p.Lys308Ile) c.917A>T (p.Lys306Ile) c.1697A>T (p.Lys566Ile) c.1694A>T (p.Lys565Ile) | |
11 | g.112016740A>C | CA382590234 | DIXDC1 | c.1806A>C (p.Lys602Asn) n.802A>C c.1173A>C (p.Lys391Asn) n.1159A>C c.1803A>C (p.Lys601Asn) c.924A>C (p.Lys308Asn) c.918A>C (p.Lys306Asn) c.1698A>C (p.Lys566Asn) c.1695A>C (p.Lys565Asn) | |
11 | g.112016740A>G | CA476785583 | DIXDC1 | c.1806A>G (p.Lys602=) n.802A>G c.1173A>G (p.Lys391=) n.1159A>G c.1803A>G (p.Lys601=) c.924A>G (p.Lys308=) c.918A>G (p.Lys306=) c.1698A>G (p.Lys566=) c.1695A>G (p.Lys565=) | |
11 | g.112016740A>T | CA382590235 | DIXDC1 | c.1806A>T (p.Lys602Asn) n.802A>T c.1173A>T (p.Lys391Asn) n.1159A>T c.1803A>T (p.Lys601Asn) c.924A>T (p.Lys308Asn) c.918A>T (p.Lys306Asn) c.1698A>T (p.Lys566Asn) c.1695A>T (p.Lys565Asn) | |
11 | g.112016741G>A | CA382590237 | DIXDC1 | c.1807G>A (p.Val603Met) n.803G>A c.1174G>A (p.Val392Met) n.1160G>A c.1804G>A (p.Val602Met) c.925G>A (p.Val309Met) c.919G>A (p.Val307Met) c.1699G>A (p.Val567Met) c.1696G>A (p.Val566Met) | dbSNP |
11 | g.112016741G>C | CA6276423 | DIXDC1 | c.1807G>C (p.Val603Leu) n.803G>C c.1174G>C (p.Val392Leu) n.1160G>C c.1804G>C (p.Val602Leu) c.925G>C (p.Val309Leu) c.919G>C (p.Val307Leu) c.1699G>C (p.Val567Leu) c.1696G>C (p.Val566Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.112016741G= | CA2000524055 | DIXDC1 | c.1807G= (p.Val603=) n.803G= c.1174G= (p.Val392=) n.1160G= c.1804G= (p.Val602=) c.925G= (p.Val309=) c.919G= (p.Val307=) c.1699G= (p.Val567=) c.1696G= (p.Val566=) | |
11 | g.112016741G>T | CA382590244 | DIXDC1 | c.1807G>T (p.Val603Leu) n.803G>T c.1174G>T (p.Val392Leu) n.1160G>T c.1804G>T (p.Val602Leu) c.925G>T (p.Val309Leu) c.919G>T (p.Val307Leu) c.1699G>T (p.Val567Leu) c.1696G>T (p.Val566Leu) | gnomAD v4 |
11 | g.112016742T>A | CA382590249 | DIXDC1 | c.1808T>A (p.Val603Glu) n.804T>A c.1175T>A (p.Val392Glu) n.1161T>A c.1805T>A (p.Val602Glu) c.926T>A (p.Val309Glu) c.920T>A (p.Val307Glu) c.1700T>A (p.Val567Glu) c.1697T>A (p.Val566Glu) | |
11 | g.112016742T>C | CA382590251 | DIXDC1 | c.1808T>C (p.Val603Ala) n.804T>C c.1175T>C (p.Val392Ala) n.1161T>C c.1805T>C (p.Val602Ala) c.926T>C (p.Val309Ala) c.920T>C (p.Val307Ala) c.1700T>C (p.Val567Ala) c.1697T>C (p.Val566Ala) | |
11 | g.112016742T>G | CA382590247 | DIXDC1 | c.1808T>G (p.Val603Gly) n.804T>G c.1175T>G (p.Val392Gly) n.1161T>G c.1805T>G (p.Val602Gly) c.926T>G (p.Val309Gly) c.920T>G (p.Val307Gly) c.1700T>G (p.Val567Gly) c.1697T>G (p.Val566Gly) | |
11 | g.112016743G>A | CA228536527 | DIXDC1 | c.1809G>A (p.Val603=) n.805G>A c.1176G>A (p.Val392=) n.1162G>A c.1806G>A (p.Val602=) c.927G>A (p.Val309=) c.921G>A (p.Val307=) c.1701G>A (p.Val567=) c.1698G>A (p.Val566=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016743G>C | CA476785584 | DIXDC1 | c.1809G>C (p.Val603=) n.805G>C c.1176G>C (p.Val392=) n.1162G>C c.1806G>C (p.Val602=) c.927G>C (p.Val309=) c.921G>C (p.Val307=) c.1701G>C (p.Val567=) c.1698G>C (p.Val566=) | |
11 | g.112016743G= | CA2000524056 | DIXDC1 | c.1809G= (p.Val603=) n.805G= c.1176G= (p.Val392=) n.1162G= c.1806G= (p.Val602=) c.927G= (p.Val309=) c.921G= (p.Val307=) c.1701G= (p.Val567=) c.1698G= (p.Val566=) | |
11 | g.112016743G>T | CA476785585 | DIXDC1 | c.1809G>T (p.Val603=) n.805G>T c.1176G>T (p.Val392=) n.1162G>T c.1806G>T (p.Val602=) c.927G>T (p.Val309=) c.921G>T (p.Val307=) c.1701G>T (p.Val567=) c.1698G>T (p.Val566=) | |
11 | g.112016744C>A | CA382590254 | DIXDC1 | c.1810C>A (p.Leu604Ile) n.806C>A c.1177C>A (p.Leu393Ile) n.1163C>A c.1807C>A (p.Leu603Ile) c.928C>A (p.Leu310Ile) c.922C>A (p.Leu308Ile) c.1702C>A (p.Leu568Ile) c.1699C>A (p.Leu567Ile) | |
11 | g.112016744C>G | CA382590256 | DIXDC1 | c.1810C>G (p.Leu604Val) n.806C>G c.1177C>G (p.Leu393Val) n.1163C>G c.1807C>G (p.Leu603Val) c.928C>G (p.Leu310Val) c.922C>G (p.Leu308Val) c.1702C>G (p.Leu568Val) c.1699C>G (p.Leu567Val) | |
11 | g.112016744C>T | CA382590258 | DIXDC1 | c.1810C>T (p.Leu604Phe) n.806C>T c.1177C>T (p.Leu393Phe) n.1163C>T c.1807C>T (p.Leu603Phe) c.928C>T (p.Leu310Phe) c.922C>T (p.Leu308Phe) c.1702C>T (p.Leu568Phe) c.1699C>T (p.Leu567Phe) | |
11 | g.112016745T>A | CA382590262 | DIXDC1 | c.1811T>A (p.Leu604His) n.807T>A c.1178T>A (p.Leu393His) n.1164T>A c.1808T>A (p.Leu603His) c.929T>A (p.Leu310His) c.923T>A (p.Leu308His) c.1703T>A (p.Leu568His) c.1700T>A (p.Leu567His) | |
11 | g.112016745T>C | CA382590265 | DIXDC1 | c.1811T>C (p.Leu604Pro) n.807T>C c.1178T>C (p.Leu393Pro) n.1164T>C c.1808T>C (p.Leu603Pro) c.929T>C (p.Leu310Pro) c.923T>C (p.Leu308Pro) c.1703T>C (p.Leu568Pro) c.1700T>C (p.Leu567Pro) | gnomAD v4 |
11 | g.112016745T>G | CA382590268 | DIXDC1 | c.1811T>G (p.Leu604Arg) n.807T>G c.1178T>G (p.Leu393Arg) n.1164T>G c.1808T>G (p.Leu603Arg) c.929T>G (p.Leu310Arg) c.923T>G (p.Leu308Arg) c.1703T>G (p.Leu568Arg) c.1700T>G (p.Leu567Arg) | |
11 | g.112016746C>A | CA476785586 | DIXDC1 | c.1812C>A (p.Leu604=) n.808C>A c.1179C>A (p.Leu393=) n.1165C>A c.1809C>A (p.Leu603=) c.930C>A (p.Leu310=) c.924C>A (p.Leu308=) c.1704C>A (p.Leu568=) c.1701C>A (p.Leu567=) | |
11 | g.112016746C= | CA2000524057 | DIXDC1 | c.1812C= (p.Leu604=) n.808C= c.1179C= (p.Leu393=) n.1165C= c.1809C= (p.Leu603=) c.930C= (p.Leu310=) c.924C= (p.Leu308=) c.1704C= (p.Leu568=) c.1701C= (p.Leu567=) | |
11 | g.112016746C>G | CA476785587 | DIXDC1 | c.1812C>G (p.Leu604=) n.808C>G c.1179C>G (p.Leu393=) n.1165C>G c.1809C>G (p.Leu603=) c.930C>G (p.Leu310=) c.924C>G (p.Leu308=) c.1704C>G (p.Leu568=) c.1701C>G (p.Leu567=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016746C>T | CA476785588 | DIXDC1 | c.1812C>T (p.Leu604=) n.808C>T c.1179C>T (p.Leu393=) n.1165C>T c.1809C>T (p.Leu603=) c.930C>T (p.Leu310=) c.924C>T (p.Leu308=) c.1704C>T (p.Leu568=) c.1701C>T (p.Leu567=) | |
11 | g.112016747T>A | CA382590272 | DIXDC1 | c.1813T>A (p.Tyr605Asn) n.809T>A c.1180T>A (p.Tyr394Asn) n.1166T>A c.1810T>A (p.Tyr604Asn) c.931T>A (p.Tyr311Asn) c.925T>A (p.Tyr309Asn) c.1705T>A (p.Tyr569Asn) c.1702T>A (p.Tyr568Asn) | |
11 | g.112016747T>C | CA382590278 | DIXDC1 | c.1813T>C (p.Tyr605His) n.809T>C c.1180T>C (p.Tyr394His) n.1166T>C c.1810T>C (p.Tyr604His) c.931T>C (p.Tyr311His) c.925T>C (p.Tyr309His) c.1705T>C (p.Tyr569His) c.1702T>C (p.Tyr568His) | gnomAD v4 |
11 | g.112016747T>G | CA382590275 | DIXDC1 | c.1813T>G (p.Tyr605Asp) n.809T>G c.1180T>G (p.Tyr394Asp) n.1166T>G c.1810T>G (p.Tyr604Asp) c.931T>G (p.Tyr311Asp) c.925T>G (p.Tyr309Asp) c.1705T>G (p.Tyr569Asp) c.1702T>G (p.Tyr568Asp) | |
11 | g.112016748A= | CA2000524058 | DIXDC1 | c.1814A= (p.Tyr605=) n.810A= c.1181A= (p.Tyr394=) n.1167A= c.1811A= (p.Tyr604=) c.932A= (p.Tyr311=) c.926A= (p.Tyr309=) c.1706A= (p.Tyr569=) c.1703A= (p.Tyr568=) | |
11 | g.112016748A>C | CA382590281 | DIXDC1 | c.1814A>C (p.Tyr605Ser) n.810A>C c.1181A>C (p.Tyr394Ser) n.1167A>C c.1811A>C (p.Tyr604Ser) c.932A>C (p.Tyr311Ser) c.926A>C (p.Tyr309Ser) c.1706A>C (p.Tyr569Ser) c.1703A>C (p.Tyr568Ser) | |
11 | g.112016748A>G | CA6276424 | DIXDC1 | c.1814A>G (p.Tyr605Cys) n.810A>G c.1181A>G (p.Tyr394Cys) n.1167A>G c.1811A>G (p.Tyr604Cys) c.932A>G (p.Tyr311Cys) c.926A>G (p.Tyr309Cys) c.1706A>G (p.Tyr569Cys) c.1703A>G (p.Tyr568Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016748A>T | CA382590285 | DIXDC1 | c.1814A>T (p.Tyr605Phe) n.810A>T c.1181A>T (p.Tyr394Phe) n.1167A>T c.1811A>T (p.Tyr604Phe) c.932A>T (p.Tyr311Phe) c.926A>T (p.Tyr309Phe) c.1706A>T (p.Tyr569Phe) c.1703A>T (p.Tyr568Phe) | |
11 | g.112016749T>A | CA382590289 | DIXDC1 | c.1815T>A (p.Tyr605Ter) n.811T>A c.1182T>A (p.Tyr394Ter) n.1168T>A c.1812T>A (p.Tyr604Ter) c.933T>A (p.Tyr311Ter) c.927T>A (p.Tyr309Ter) c.1707T>A (p.Tyr569Ter) c.1704T>A (p.Tyr568Ter) | |
11 | g.112016749T>C | CA476785589 | DIXDC1 | c.1815T>C (p.Tyr605=) n.811T>C c.1182T>C (p.Tyr394=) n.1168T>C c.1812T>C (p.Tyr604=) c.933T>C (p.Tyr311=) c.927T>C (p.Tyr309=) c.1707T>C (p.Tyr569=) c.1704T>C (p.Tyr568=) | |
11 | g.112016749T>G | CA382590292 | DIXDC1 | c.1815T>G (p.Tyr605Ter) n.811T>G c.1182T>G (p.Tyr394Ter) n.1168T>G c.1812T>G (p.Tyr604Ter) c.933T>G (p.Tyr311Ter) c.927T>G (p.Tyr309Ter) c.1707T>G (p.Tyr569Ter) c.1704T>G (p.Tyr568Ter) | |
11 | g.112016751del | CA2615974426 | DIXDC1 | c.1817del (p.Phe606SerfsTer20) n.813del c.1184del (p.Phe395SerfsTer20) n.1170del c.1814del (p.Phe605SerfsTer20) c.935del (p.Phe312SerfsTer20) c.929del (p.Phe310SerfsTer20) c.1709del (p.Phe570SerfsTer20) c.1706del (p.Phe569SerfsTer20) | gnomAD v4 |
11 | g.112016750T>A | CA382590297 | DIXDC1 | c.1816T>A (p.Phe606Ile) n.812T>A c.1183T>A (p.Phe395Ile) n.1169T>A c.1813T>A (p.Phe605Ile) c.934T>A (p.Phe312Ile) c.928T>A (p.Phe310Ile) c.1708T>A (p.Phe570Ile) c.1705T>A (p.Phe569Ile) | |
11 | g.112016750T>C | CA382590299 | DIXDC1 | c.1816T>C (p.Phe606Leu) n.812T>C c.1183T>C (p.Phe395Leu) n.1169T>C c.1813T>C (p.Phe605Leu) c.934T>C (p.Phe312Leu) c.928T>C (p.Phe310Leu) c.1708T>C (p.Phe570Leu) c.1705T>C (p.Phe569Leu) | |
11 | g.112016750T>G | CA382590295 | DIXDC1 | c.1816T>G (p.Phe606Val) n.812T>G c.1183T>G (p.Phe395Val) n.1169T>G c.1813T>G (p.Phe605Val) c.934T>G (p.Phe312Val) c.928T>G (p.Phe310Val) c.1708T>G (p.Phe570Val) c.1705T>G (p.Phe569Val) | |
11 | g.112016751T>A | CA382590303 | DIXDC1 | c.1817T>A (p.Phe606Tyr) n.813T>A c.1184T>A (p.Phe395Tyr) n.1170T>A c.1814T>A (p.Phe605Tyr) c.935T>A (p.Phe312Tyr) c.929T>A (p.Phe310Tyr) c.1709T>A (p.Phe570Tyr) c.1706T>A (p.Phe569Tyr) | |
11 | g.112016751T>C | CA382590306 | DIXDC1 | c.1817T>C (p.Phe606Ser) n.813T>C c.1184T>C (p.Phe395Ser) n.1170T>C c.1814T>C (p.Phe605Ser) c.935T>C (p.Phe312Ser) c.929T>C (p.Phe310Ser) c.1709T>C (p.Phe570Ser) c.1706T>C (p.Phe569Ser) | |
11 | g.112016751T>G | CA382590305 | DIXDC1 | c.1817T>G (p.Phe606Cys) n.813T>G c.1184T>G (p.Phe395Cys) n.1170T>G c.1814T>G (p.Phe605Cys) c.935T>G (p.Phe312Cys) c.929T>G (p.Phe310Cys) c.1709T>G (p.Phe570Cys) c.1706T>G (p.Phe569Cys) | |
11 | g.112016752C>A | CA382590309 | DIXDC1 | c.1818C>A (p.Phe606Leu) n.814C>A c.1185C>A (p.Phe395Leu) n.1171C>A c.1815C>A (p.Phe605Leu) c.936C>A (p.Phe312Leu) c.930C>A (p.Phe310Leu) c.1710C>A (p.Phe570Leu) c.1707C>A (p.Phe569Leu) | |
11 | g.112016752C>G | CA382590311 | DIXDC1 | c.1818C>G (p.Phe606Leu) n.814C>G c.1185C>G (p.Phe395Leu) n.1171C>G c.1815C>G (p.Phe605Leu) c.936C>G (p.Phe312Leu) c.930C>G (p.Phe310Leu) c.1710C>G (p.Phe570Leu) c.1707C>G (p.Phe569Leu) | |
11 | g.112016752C>T | CA476785592 | DIXDC1 | c.1818C>T (p.Phe606=) n.814C>T c.1185C>T (p.Phe395=) n.1171C>T c.1815C>T (p.Phe605=) c.936C>T (p.Phe312=) c.930C>T (p.Phe310=) c.1710C>T (p.Phe570=) c.1707C>T (p.Phe569=) | |
11 | g.112016753A>C | CA382590313 | DIXDC1 | c.1819A>C (p.Thr607Pro) n.815A>C c.1186A>C (p.Thr396Pro) n.1172A>C c.1816A>C (p.Thr606Pro) c.937A>C (p.Thr313Pro) c.931A>C (p.Thr311Pro) c.1711A>C (p.Thr571Pro) c.1708A>C (p.Thr570Pro) | |
11 | g.112016753A>G | CA382590314 | DIXDC1 | c.1819A>G (p.Thr607Ala) n.815A>G c.1186A>G (p.Thr396Ala) n.1172A>G c.1816A>G (p.Thr606Ala) c.937A>G (p.Thr313Ala) c.931A>G (p.Thr311Ala) c.1711A>G (p.Thr571Ala) c.1708A>G (p.Thr570Ala) | gnomAD v4 |
11 | g.112016753A>T | CA382590315 | DIXDC1 | c.1819A>T (p.Thr607Ser) n.815A>T c.1186A>T (p.Thr396Ser) n.1172A>T c.1816A>T (p.Thr606Ser) c.937A>T (p.Thr313Ser) c.931A>T (p.Thr311Ser) c.1711A>T (p.Thr571Ser) c.1708A>T (p.Thr570Ser) | |
11 | g.112016754C>A | CA382590316 | DIXDC1 | c.1820C>A (p.Thr607Asn) n.816C>A c.1187C>A (p.Thr396Asn) n.1173C>A c.1817C>A (p.Thr606Asn) c.938C>A (p.Thr313Asn) c.932C>A (p.Thr311Asn) c.1712C>A (p.Thr571Asn) c.1709C>A (p.Thr570Asn) | |
11 | g.112016754C= | CA2000524059 | DIXDC1 | c.1820C= (p.Thr607=) n.816C= c.1187C= (p.Thr396=) n.1173C= c.1817C= (p.Thr606=) c.938C= (p.Thr313=) c.932C= (p.Thr311=) c.1712C= (p.Thr571=) c.1709C= (p.Thr570=) | |
11 | g.112016754C>G | CA382590317 | DIXDC1 | c.1820C>G (p.Thr607Ser) n.816C>G c.1187C>G (p.Thr396Ser) n.1173C>G c.1817C>G (p.Thr606Ser) c.938C>G (p.Thr313Ser) c.932C>G (p.Thr311Ser) c.1712C>G (p.Thr571Ser) c.1709C>G (p.Thr570Ser) | |
11 | g.112016754C>T | CA382590321 | DIXDC1 | c.1820C>T (p.Thr607Ile) n.816C>T c.1187C>T (p.Thr396Ile) n.1173C>T c.1817C>T (p.Thr606Ile) c.938C>T (p.Thr313Ile) c.932C>T (p.Thr311Ile) c.1712C>T (p.Thr571Ile) c.1709C>T (p.Thr570Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.112016755T>A | CA476785595 | DIXDC1 | c.1821T>A (p.Thr607=) n.817T>A c.1188T>A (p.Thr396=) n.1174T>A c.1818T>A (p.Thr606=) c.939T>A (p.Thr313=) c.933T>A (p.Thr311=) c.1713T>A (p.Thr571=) c.1710T>A (p.Thr570=) | |
11 | g.112016755T>C | CA6276425 | DIXDC1 | c.1821T>C (p.Thr607=) n.817T>C c.1188T>C (p.Thr396=) n.1174T>C c.1818T>C (p.Thr606=) c.939T>C (p.Thr313=) c.933T>C (p.Thr311=) c.1713T>C (p.Thr571=) c.1710T>C (p.Thr570=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.112016755T>G | CA476785596 | DIXDC1 | c.1821T>G (p.Thr607=) n.817T>G c.1188T>G (p.Thr396=) n.1174T>G c.1818T>G (p.Thr606=) c.939T>G (p.Thr313=) c.933T>G (p.Thr311=) c.1713T>G (p.Thr571=) c.1710T>G (p.Thr570=) | |
11 | g.112016755T= | CA2000524060 | DIXDC1 | c.1821T= (p.Thr607=) n.817T= c.1188T= (p.Thr396=) n.1174T= c.1818T= (p.Thr606=) c.939T= (p.Thr313=) c.933T= (p.Thr311=) c.1713T= (p.Thr571=) c.1710T= (p.Thr570=) | |
11 | g.112016756G>A | CA382590325 | DIXDC1 | c.1822G>A (p.Asp608Asn) n.818G>A c.1189G>A (p.Asp397Asn) n.1175G>A c.1819G>A (p.Asp607Asn) c.940G>A (p.Asp314Asn) c.934G>A (p.Asp312Asn) c.1714G>A (p.Asp572Asn) c.1711G>A (p.Asp571Asn) | |
11 | g.112016756G>C | CA382590328 | DIXDC1 | c.1822G>C (p.Asp608His) n.818G>C c.1189G>C (p.Asp397His) n.1175G>C c.1819G>C (p.Asp607His) c.940G>C (p.Asp314His) c.934G>C (p.Asp312His) c.1714G>C (p.Asp572His) c.1711G>C (p.Asp571His) | |
11 | g.112016756G>T | CA382590330 | DIXDC1 | c.1822G>T (p.Asp608Tyr) n.818G>T c.1189G>T (p.Asp397Tyr) n.1175G>T c.1819G>T (p.Asp607Tyr) c.940G>T (p.Asp314Tyr) c.934G>T (p.Asp312Tyr) c.1714G>T (p.Asp572Tyr) c.1711G>T (p.Asp571Tyr) | |
11 | g.112016757A>C | CA382590332 | DIXDC1 | c.1823A>C (p.Asp608Ala) n.819A>C c.1190A>C (p.Asp397Ala) n.1176A>C c.1820A>C (p.Asp607Ala) c.941A>C (p.Asp314Ala) c.935A>C (p.Asp312Ala) c.1715A>C (p.Asp572Ala) c.1712A>C (p.Asp571Ala) | dbSNP |
11 | g.112016757A>G | CA382590338 | DIXDC1 | c.1823A>G (p.Asp608Gly) n.819A>G c.1190A>G (p.Asp397Gly) n.1176A>G c.1820A>G (p.Asp607Gly) c.941A>G (p.Asp314Gly) c.935A>G (p.Asp312Gly) c.1715A>G (p.Asp572Gly) c.1712A>G (p.Asp571Gly) | |
11 | g.112016757A>T | CA382590340 | DIXDC1 | c.1823A>T (p.Asp608Val) n.819A>T c.1190A>T (p.Asp397Val) n.1176A>T c.1820A>T (p.Asp607Val) c.941A>T (p.Asp314Val) c.935A>T (p.Asp312Val) c.1715A>T (p.Asp572Val) c.1712A>T (p.Asp571Val) | |
11 | g.112016758C>A | CA382590343 | DIXDC1 | c.1824C>A (p.Asp608Glu) n.820C>A c.1191C>A (p.Asp397Glu) n.1177C>A c.1821C>A (p.Asp607Glu) c.942C>A (p.Asp314Glu) c.936C>A (p.Asp312Glu) c.1716C>A (p.Asp572Glu) c.1713C>A (p.Asp571Glu) | ClinVar |
11 | g.112016758C= | CA2000524061 | DIXDC1 | c.1824C= (p.Asp608=) n.820C= c.1191C= (p.Asp397=) n.1177C= c.1821C= (p.Asp607=) c.942C= (p.Asp314=) c.936C= (p.Asp312=) c.1716C= (p.Asp572=) c.1713C= (p.Asp571=) | |
11 | g.112016758C>G | CA382590346 | DIXDC1 | c.1824C>G (p.Asp608Glu) n.820C>G c.1191C>G (p.Asp397Glu) n.1177C>G c.1821C>G (p.Asp607Glu) c.942C>G (p.Asp314Glu) c.936C>G (p.Asp312Glu) c.1716C>G (p.Asp572Glu) c.1713C>G (p.Asp571Glu) | |
11 | g.112016758C>T | CA6276426 | DIXDC1 | c.1824C>T (p.Asp608=) n.820C>T c.1191C>T (p.Asp397=) n.1177C>T c.1821C>T (p.Asp607=) c.942C>T (p.Asp314=) c.936C>T (p.Asp312=) c.1716C>T (p.Asp572=) c.1713C>T (p.Asp571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016759C>A | CA476785599 | DIXDC1 | c.1825C>A (p.Arg609=) n.821C>A c.1192C>A (p.Arg398=) n.1178C>A c.1822C>A (p.Arg608=) c.943C>A (p.Arg315=) c.937C>A (p.Arg313=) c.1717C>A (p.Arg573=) c.1714C>A (p.Arg572=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016759C= | CA2000524062 | DIXDC1 | c.1825C= (p.Arg609=) n.821C= c.1192C= (p.Arg398=) n.1178C= c.1822C= (p.Arg608=) c.943C= (p.Arg315=) c.937C= (p.Arg313=) c.1717C= (p.Arg573=) c.1714C= (p.Arg572=) | |
11 | g.112016759C>G | CA382590347 | DIXDC1 | c.1825C>G (p.Arg609Gly) n.821C>G c.1192C>G (p.Arg398Gly) n.1178C>G c.1822C>G (p.Arg608Gly) c.943C>G (p.Arg315Gly) c.937C>G (p.Arg313Gly) c.1717C>G (p.Arg573Gly) c.1714C>G (p.Arg572Gly) | |
11 | g.112016759C>T | CA6276427 | DIXDC1 | c.1825C>T (p.Arg609Trp) n.821C>T c.1192C>T (p.Arg398Trp) n.1178C>T c.1822C>T (p.Arg608Trp) c.943C>T (p.Arg315Trp) c.937C>T (p.Arg313Trp) c.1717C>T (p.Arg573Trp) c.1714C>T (p.Arg572Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.112016760G>A | CA382590350 | DIXDC1 | c.1826G>A (p.Arg609Gln) n.822G>A c.1193G>A (p.Arg398Gln) n.1179G>A c.1823G>A (p.Arg608Gln) c.944G>A (p.Arg315Gln) c.938G>A (p.Arg313Gln) c.1718G>A (p.Arg573Gln) c.1715G>A (p.Arg572Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.112016760G>C | CA382590352 | DIXDC1 | c.1826G>C (p.Arg609Pro) n.822G>C c.1193G>C (p.Arg398Pro) n.1179G>C c.1823G>C (p.Arg608Pro) c.944G>C (p.Arg315Pro) c.938G>C (p.Arg313Pro) c.1718G>C (p.Arg573Pro) c.1715G>C (p.Arg572Pro) | |
11 | g.112016760G= | CA2000524063 | DIXDC1 | c.1826G= (p.Arg609=) n.822G= c.1193G= (p.Arg398=) n.1179G= c.1823G= (p.Arg608=) c.944G= (p.Arg315=) c.938G= (p.Arg313=) c.1718G= (p.Arg573=) c.1715G= (p.Arg572=) | |
11 | g.112016760G>T | CA382590353 | DIXDC1 | c.1826G>T (p.Arg609Leu) n.822G>T c.1193G>T (p.Arg398Leu) n.1179G>T c.1823G>T (p.Arg608Leu) c.944G>T (p.Arg315Leu) c.938G>T (p.Arg313Leu) c.1718G>T (p.Arg573Leu) c.1715G>T (p.Arg572Leu) | gnomAD v4 |
11 | g.112016761G>A | CA476785600 | DIXDC1 | c.1827G>A (p.Arg609=) n.823G>A c.1194G>A (p.Arg398=) n.1180G>A c.1824G>A (p.Arg608=) c.945G>A (p.Arg315=) c.939G>A (p.Arg313=) c.1719G>A (p.Arg573=) c.1716G>A (p.Arg572=) | COSMIC |
11 | g.112016761G>C | CA476785602 | DIXDC1 | c.1827G>C (p.Arg609=) n.823G>C c.1194G>C (p.Arg398=) n.1180G>C c.1824G>C (p.Arg608=) c.945G>C (p.Arg315=) c.939G>C (p.Arg313=) c.1719G>C (p.Arg573=) c.1716G>C (p.Arg572=) | |
11 | g.112016761G>T | CA476785604 | DIXDC1 | c.1827G>T (p.Arg609=) n.823G>T c.1194G>T (p.Arg398=) n.1180G>T c.1824G>T (p.Arg608=) c.945G>T (p.Arg315=) c.939G>T (p.Arg313=) c.1719G>T (p.Arg573=) c.1716G>T (p.Arg572=) | |
11 | g.112016762T>A | CA382590354 | DIXDC1 | c.1828T>A (p.Ser610Thr) n.824T>A c.1195T>A (p.Ser399Thr) n.1181T>A c.1825T>A (p.Ser609Thr) c.946T>A (p.Ser316Thr) c.940T>A (p.Ser314Thr) c.1720T>A (p.Ser574Thr) c.1717T>A (p.Ser573Thr) | |
11 | g.112016762T>C | CA382590355 | DIXDC1 | c.1828T>C (p.Ser610Pro) n.824T>C c.1195T>C (p.Ser399Pro) n.1181T>C c.1825T>C (p.Ser609Pro) c.946T>C (p.Ser316Pro) c.940T>C (p.Ser314Pro) c.1720T>C (p.Ser574Pro) c.1717T>C (p.Ser573Pro) | |
11 | g.112016762T>G | CA382590356 | DIXDC1 | c.1828T>G (p.Ser610Ala) n.824T>G c.1195T>G (p.Ser399Ala) n.1181T>G c.1825T>G (p.Ser609Ala) c.946T>G (p.Ser316Ala) c.940T>G (p.Ser314Ala) c.1720T>G (p.Ser574Ala) c.1717T>G (p.Ser573Ala) | |
11 | g.112016763C>A | CA382590357 | DIXDC1 | c.1829C>A (p.Ser610Ter) n.825C>A c.1196C>A (p.Ser399Ter) n.1182C>A c.1826C>A (p.Ser609Ter) c.947C>A (p.Ser316Ter) c.941C>A (p.Ser314Ter) c.1721C>A (p.Ser574Ter) c.1718C>A (p.Ser573Ter) | |
11 | g.112016763C>G | CA382590358 | DIXDC1 | c.1829C>G (p.Ser610Ter) n.825C>G c.1196C>G (p.Ser399Ter) n.1182C>G c.1826C>G (p.Ser609Ter) c.947C>G (p.Ser316Ter) c.941C>G (p.Ser314Ter) c.1721C>G (p.Ser574Ter) c.1718C>G (p.Ser573Ter) | |
11 | g.112016763C>T | CA382590360 | DIXDC1 | c.1829C>T (p.Ser610Leu) n.825C>T c.1196C>T (p.Ser399Leu) n.1182C>T c.1826C>T (p.Ser609Leu) c.947C>T (p.Ser316Leu) c.941C>T (p.Ser314Leu) c.1721C>T (p.Ser574Leu) c.1718C>T (p.Ser573Leu) | gnomAD v4 |
11 | g.112016764A>C | CA476785606 | DIXDC1 | c.1830A>C (p.Ser610=) n.826A>C c.1197A>C (p.Ser399=) n.1183A>C c.1827A>C (p.Ser609=) c.948A>C (p.Ser316=) c.942A>C (p.Ser314=) c.1722A>C (p.Ser574=) c.1719A>C (p.Ser573=) | |
11 | g.112016764A>G | CA476785607 | DIXDC1 | c.1830A>G (p.Ser610=) n.826A>G c.1197A>G (p.Ser399=) n.1183A>G c.1827A>G (p.Ser609=) c.948A>G (p.Ser316=) c.942A>G (p.Ser314=) c.1722A>G (p.Ser574=) c.1719A>G (p.Ser573=) | |
11 | g.112016764A>T | CA476785609 | DIXDC1 | c.1830A>T (p.Ser610=) n.826A>T c.1197A>T (p.Ser399=) n.1183A>T c.1827A>T (p.Ser609=) c.948A>T (p.Ser316=) c.942A>T (p.Ser314=) c.1722A>T (p.Ser574=) c.1719A>T (p.Ser573=) | |
11 | g.112016765C>A | CA382590362 | DIXDC1 | c.1831C>A (p.Leu611Ile) n.827C>A c.1198C>A (p.Leu400Ile) n.1184C>A c.1828C>A (p.Leu610Ile) c.949C>A (p.Leu317Ile) c.943C>A (p.Leu315Ile) c.1723C>A (p.Leu575Ile) c.1720C>A (p.Leu574Ile) | |
11 | g.112016765C>G | CA382590367 | DIXDC1 | c.1831C>G (p.Leu611Val) n.827C>G c.1198C>G (p.Leu400Val) n.1184C>G c.1828C>G (p.Leu610Val) c.949C>G (p.Leu317Val) c.943C>G (p.Leu315Val) c.1723C>G (p.Leu575Val) c.1720C>G (p.Leu574Val) | |
11 | g.112016765C>T | CA382590364 | DIXDC1 | c.1831C>T (p.Leu611Phe) n.827C>T c.1198C>T (p.Leu400Phe) n.1184C>T c.1828C>T (p.Leu610Phe) c.949C>T (p.Leu317Phe) c.943C>T (p.Leu315Phe) c.1723C>T (p.Leu575Phe) c.1720C>T (p.Leu574Phe) | |
11 | g.112016765_112016778delinsCTTACGCCCTTCAT | CA2000524064 | DIXDC1 | c.1831_1844delinsCTTACGCCCTTCAT (p.Leu611=) n.827_840delinsCTTACGCCCTTCAT c.1198_1211delinsCTTACGCCCTTCAT (p.Leu400=) n.1184_1197delinsCTTACGCCCTTCAT c.1828_1841delinsCTTACGCCCTTCAT (p.Leu610=) c.949_962delinsCTTACGCCCTTCAT (p.Leu317=) c.943_956delinsCTTACGCCCTTCAT (p.Leu315=) c.1723_1736delinsCTTACGCCCTTCAT (p.Leu575=) c.1720_1733delinsCTTACGCCCTTCAT (p.Leu574=) | |
11 | g.112016766T>A | CA382590370 | DIXDC1 | c.1832T>A (p.Leu611His) n.828T>A c.1199T>A (p.Leu400His) n.1185T>A c.1829T>A (p.Leu610His) c.950T>A (p.Leu317His) c.944T>A (p.Leu315His) c.1724T>A (p.Leu575His) c.1721T>A (p.Leu574His) | |
11 | g.112016766T>C | CA382590372 | DIXDC1 | c.1832T>C (p.Leu611Pro) n.828T>C c.1199T>C (p.Leu400Pro) n.1185T>C c.1829T>C (p.Leu610Pro) c.950T>C (p.Leu317Pro) c.944T>C (p.Leu315Pro) c.1724T>C (p.Leu575Pro) c.1721T>C (p.Leu574Pro) | |
11 | g.112016766T>G | CA382590374 | DIXDC1 | c.1832T>G (p.Leu611Arg) n.828T>G c.1199T>G (p.Leu400Arg) n.1185T>G c.1829T>G (p.Leu610Arg) c.950T>G (p.Leu317Arg) c.944T>G (p.Leu315Arg) c.1724T>G (p.Leu575Arg) c.1721T>G (p.Leu574Arg) | |
11 | g.112016766_112016778del | CA6276428 | DIXDC1 | c.1832_1844del (p.Leu611ArgfsTer11) n.828_840del c.1199_1211del (p.Leu400ArgfsTer11) n.1185_1197del c.1829_1841del (p.Leu610ArgfsTer11) c.950_962del (p.Leu317ArgfsTer11) c.944_956del (p.Leu315ArgfsTer11) c.1724_1736del (p.Leu575ArgfsTer11) c.1721_1733del (p.Leu574ArgfsTer11) | dbSNP ExAC gnomAD v2 |
11 | g.112016767T>A | CA476785610 | DIXDC1 | c.1833T>A (p.Leu611=) n.829T>A c.1200T>A (p.Leu400=) n.1186T>A c.1830T>A (p.Leu610=) c.951T>A (p.Leu317=) c.945T>A (p.Leu315=) c.1725T>A (p.Leu575=) c.1722T>A (p.Leu574=) | |
11 | g.112016767T>C | CA476785611 | DIXDC1 | c.1833T>C (p.Leu611=) n.829T>C c.1200T>C (p.Leu400=) n.1186T>C c.1830T>C (p.Leu610=) c.951T>C (p.Leu317=) c.945T>C (p.Leu315=) c.1725T>C (p.Leu575=) c.1722T>C (p.Leu574=) | |
11 | g.112016767T>G | CA476785612 | DIXDC1 | c.1833T>G (p.Leu611=) n.829T>G c.1200T>G (p.Leu400=) n.1186T>G c.1830T>G (p.Leu610=) c.951T>G (p.Leu317=) c.945T>G (p.Leu315=) c.1725T>G (p.Leu575=) c.1722T>G (p.Leu574=) | |
11 | g.112016767T= | CA2000524065 | DIXDC1 | c.1833T= (p.Leu611=) n.829T= c.1200T= (p.Leu400=) n.1186T= c.1830T= (p.Leu610=) c.951T= (p.Leu317=) c.945T= (p.Leu315=) c.1725T= (p.Leu575=) c.1722T= (p.Leu574=) | |
11 | g.112016768A>C | CA382590377 | DIXDC1 | c.1834A>C (p.Thr612Pro) n.830A>C c.1201A>C (p.Thr401Pro) n.1187A>C c.1831A>C (p.Thr611Pro) c.952A>C (p.Thr318Pro) c.946A>C (p.Thr316Pro) c.1726A>C (p.Thr576Pro) c.1723A>C (p.Thr575Pro) | |
11 | g.112016768A>G | CA382590379 | DIXDC1 | c.1834A>G (p.Thr612Ala) n.830A>G c.1201A>G (p.Thr401Ala) n.1187A>G c.1831A>G (p.Thr611Ala) c.952A>G (p.Thr318Ala) c.946A>G (p.Thr316Ala) c.1726A>G (p.Thr576Ala) c.1723A>G (p.Thr575Ala) | |
11 | g.112016768A>T | CA382590381 | DIXDC1 | c.1834A>T (p.Thr612Ser) n.830A>T c.1201A>T (p.Thr401Ser) n.1187A>T c.1831A>T (p.Thr611Ser) c.952A>T (p.Thr318Ser) c.946A>T (p.Thr316Ser) c.1726A>T (p.Thr576Ser) c.1723A>T (p.Thr575Ser) | |
11 | g.112016768dup | CA918969066 | DIXDC1 | c.1834dup (p.Thr612AsnfsTer20) n.830dup c.1201dup (p.Thr401AsnfsTer20) n.1187dup c.1831dup (p.Thr611AsnfsTer20) c.952dup (p.Thr318AsnfsTer20) c.946dup (p.Thr316AsnfsTer20) c.1726dup (p.Thr576AsnfsTer20) c.1723dup (p.Thr575AsnfsTer20) | dbSNP gnomAD v4 |
11 | g.112016769C>A | CA382590382 | DIXDC1 | c.1835C>A (p.Thr612Lys) n.831C>A c.1202C>A (p.Thr401Lys) n.1188C>A c.1832C>A (p.Thr611Lys) c.953C>A (p.Thr318Lys) c.947C>A (p.Thr316Lys) c.1727C>A (p.Thr576Lys) c.1724C>A (p.Thr575Lys) | gnomAD v4 |
11 | g.112016769C= | CA2000524066 | DIXDC1 | c.1835C= (p.Thr612=) n.831C= c.1202C= (p.Thr401=) n.1188C= c.1832C= (p.Thr611=) c.953C= (p.Thr318=) c.947C= (p.Thr316=) c.1727C= (p.Thr576=) c.1724C= (p.Thr575=) | |
11 | g.112016769C>G | CA382590383 | DIXDC1 | c.1835C>G (p.Thr612Arg) n.831C>G c.1202C>G (p.Thr401Arg) n.1188C>G c.1832C>G (p.Thr611Arg) c.953C>G (p.Thr318Arg) c.947C>G (p.Thr316Arg) c.1727C>G (p.Thr576Arg) c.1724C>G (p.Thr575Arg) | gnomAD v4 |
11 | g.112016769C>T | CA6276429 | DIXDC1 | c.1835C>T (p.Thr612Met) n.831C>T c.1202C>T (p.Thr401Met) n.1188C>T c.1832C>T (p.Thr611Met) c.953C>T (p.Thr318Met) c.947C>T (p.Thr316Met) c.1727C>T (p.Thr576Met) c.1724C>T (p.Thr575Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016770G>A | CA476785613 | DIXDC1 | c.1836G>A (p.Thr612=) n.832G>A c.1203G>A (p.Thr401=) n.1189G>A c.1833G>A (p.Thr611=) c.954G>A (p.Thr318=) c.948G>A (p.Thr316=) c.1728G>A (p.Thr576=) c.1725G>A (p.Thr575=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.112016770G>C | CA476785614 | DIXDC1 | c.1836G>C (p.Thr612=) n.832G>C c.1203G>C (p.Thr401=) n.1189G>C c.1833G>C (p.Thr611=) c.954G>C (p.Thr318=) c.948G>C (p.Thr316=) c.1728G>C (p.Thr576=) c.1725G>C (p.Thr575=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.112016770G= | CA2000524067 | DIXDC1 | c.1836G= (p.Thr612=) n.832G= c.1203G= (p.Thr401=) n.1189G= c.1833G= (p.Thr611=) c.954G= (p.Thr318=) c.948G= (p.Thr316=) c.1728G= (p.Thr576=) c.1725G= (p.Thr575=) | |
11 | g.112016770G>T | CA476785615 | DIXDC1 | c.1836G>T (p.Thr612=) n.832G>T c.1203G>T (p.Thr401=) n.1189G>T c.1833G>T (p.Thr611=) c.954G>T (p.Thr318=) c.948G>T (p.Thr316=) c.1728G>T (p.Thr576=) c.1725G>T (p.Thr575=) | |
11 | g.112016771C>A | CA382590386 | DIXDC1 | c.1837C>A (p.Pro613Thr) n.833C>A c.1204C>A (p.Pro402Thr) n.1190C>A c.1834C>A (p.Pro612Thr) c.955C>A (p.Pro319Thr) c.949C>A (p.Pro317Thr) c.1729C>A (p.Pro577Thr) c.1726C>A (p.Pro576Thr) | |
11 | g.112016771C>G | CA382590388 | DIXDC1 | c.1837C>G (p.Pro613Ala) n.833C>G c.1204C>G (p.Pro402Ala) n.1190C>G c.1834C>G (p.Pro612Ala) c.955C>G (p.Pro319Ala) c.949C>G (p.Pro317Ala) c.1729C>G (p.Pro577Ala) c.1726C>G (p.Pro576Ala) | |
11 | g.112016771C>T | CA382590390 | DIXDC1 | c.1837C>T (p.Pro613Ser) n.833C>T c.1204C>T (p.Pro402Ser) n.1190C>T c.1834C>T (p.Pro612Ser) c.955C>T (p.Pro319Ser) c.949C>T (p.Pro317Ser) c.1729C>T (p.Pro577Ser) c.1726C>T (p.Pro576Ser) | |
11 | g.112016772C>A | CA382590397 | DIXDC1 | c.1838C>A (p.Pro613His) n.834C>A c.1205C>A (p.Pro402His) n.1191C>A c.1835C>A (p.Pro612His) c.956C>A (p.Pro319His) c.950C>A (p.Pro317His) c.1730C>A (p.Pro577His) c.1727C>A (p.Pro576His) | |
11 | g.112016772C>G | CA382590393 | DIXDC1 | c.1838C>G (p.Pro613Arg) n.834C>G c.1205C>G (p.Pro402Arg) n.1191C>G c.1835C>G (p.Pro612Arg) c.956C>G (p.Pro319Arg) c.950C>G (p.Pro317Arg) c.1730C>G (p.Pro577Arg) c.1727C>G (p.Pro576Arg) | COSMIC |
11 | g.112016772C>T | CA382590395 | DIXDC1 | c.1838C>T (p.Pro613Leu) n.834C>T c.1205C>T (p.Pro402Leu) n.1191C>T c.1835C>T (p.Pro612Leu) c.956C>T (p.Pro319Leu) c.950C>T (p.Pro317Leu) c.1730C>T (p.Pro577Leu) c.1727C>T (p.Pro576Leu) | |
11 | g.112016773C>A | CA476785619 | DIXDC1 | c.1839C>A (p.Pro613=) n.835C>A c.1206C>A (p.Pro402=) n.1192C>A c.1836C>A (p.Pro612=) c.957C>A (p.Pro319=) c.951C>A (p.Pro317=) c.1731C>A (p.Pro577=) c.1728C>A (p.Pro576=) | gnomAD v4 |
11 | g.112016773C>G | CA476785616 | DIXDC1 | c.1839C>G (p.Pro613=) n.835C>G c.1206C>G (p.Pro402=) n.1192C>G c.1836C>G (p.Pro612=) c.957C>G (p.Pro319=) c.951C>G (p.Pro317=) c.1731C>G (p.Pro577=) c.1728C>G (p.Pro576=) | |
11 | g.112016773C>T | CA476785617 | DIXDC1 | c.1839C>T (p.Pro613=) n.835C>T c.1206C>T (p.Pro402=) n.1192C>T c.1836C>T (p.Pro612=) c.957C>T (p.Pro319=) c.951C>T (p.Pro317=) c.1731C>T (p.Pro577=) c.1728C>T (p.Pro576=) | |
11 | g.112016774T>A | CA382590399 | DIXDC1 | c.1840T>A (p.Phe614Ile) n.836T>A c.1207T>A (p.Phe403Ile) n.1193T>A c.1837T>A (p.Phe613Ile) c.958T>A (p.Phe320Ile) c.952T>A (p.Phe318Ile) c.1732T>A (p.Phe578Ile) c.1729T>A (p.Phe577Ile) | |
11 | g.112016774T>C | CA382590401 | DIXDC1 | c.1840T>C (p.Phe614Leu) n.836T>C c.1207T>C (p.Phe403Leu) n.1193T>C c.1837T>C (p.Phe613Leu) c.958T>C (p.Phe320Leu) c.952T>C (p.Phe318Leu) c.1732T>C (p.Phe578Leu) c.1729T>C (p.Phe577Leu) | |
11 | g.112016774T>G | CA382590403 | DIXDC1 | c.1840T>G (p.Phe614Val) n.836T>G c.1207T>G (p.Phe403Val) n.1193T>G c.1837T>G (p.Phe613Val) c.958T>G (p.Phe320Val) c.952T>G (p.Phe318Val) c.1732T>G (p.Phe578Val) c.1729T>G (p.Phe577Val) | |
11 | g.112016775T>A | CA382590406 | DIXDC1 | c.1841T>A (p.Phe614Tyr) n.837T>A c.1208T>A (p.Phe403Tyr) n.1194T>A c.1838T>A (p.Phe613Tyr) c.959T>A (p.Phe320Tyr) c.953T>A (p.Phe318Tyr) c.1733T>A (p.Phe578Tyr) c.1730T>A (p.Phe577Tyr) | gnomAD v4 |
11 | g.112016775T>C | CA382590408 | DIXDC1 | c.1841T>C (p.Phe614Ser) n.837T>C c.1208T>C (p.Phe403Ser) n.1194T>C c.1838T>C (p.Phe613Ser) c.959T>C (p.Phe320Ser) c.953T>C (p.Phe318Ser) c.1733T>C (p.Phe578Ser) c.1730T>C (p.Phe577Ser) | |
11 | g.112016775T>G | CA382590411 | DIXDC1 | c.1841T>G (p.Phe614Cys) n.837T>G c.1208T>G (p.Phe403Cys) n.1194T>G c.1838T>G (p.Phe613Cys) c.959T>G (p.Phe320Cys) c.953T>G (p.Phe318Cys) c.1733T>G (p.Phe578Cys) c.1730T>G (p.Phe577Cys) | |
11 | g.112016776C>A | CA382590415 | DIXDC1 | c.1842C>A (p.Phe614Leu) n.838C>A c.1209C>A (p.Phe403Leu) n.1195C>A c.1839C>A (p.Phe613Leu) c.960C>A (p.Phe320Leu) c.954C>A (p.Phe318Leu) c.1734C>A (p.Phe578Leu) c.1731C>A (p.Phe577Leu) | |
11 | g.112016776C>G | CA382590417 | DIXDC1 | c.1842C>G (p.Phe614Leu) n.838C>G c.1209C>G (p.Phe403Leu) n.1195C>G c.1839C>G (p.Phe613Leu) c.960C>G (p.Phe320Leu) c.954C>G (p.Phe318Leu) c.1734C>G (p.Phe578Leu) c.1731C>G (p.Phe577Leu) | |
11 | g.112016776C>T | CA476785621 | DIXDC1 | c.1842C>T (p.Phe614=) n.838C>T c.1209C>T (p.Phe403=) n.1195C>T c.1839C>T (p.Phe613=) c.960C>T (p.Phe320=) c.954C>T (p.Phe318=) c.1734C>T (p.Phe578=) c.1731C>T (p.Phe577=) | |
11 | g.112016777A= | CA2000524068 | DIXDC1 | c.1843A= (p.Met615=) n.839A= c.1210A= (p.Met404=) n.1196A= c.1840A= (p.Met614=) c.961A= (p.Met321=) c.955A= (p.Met319=) c.1735A= (p.Met579=) c.1732A= (p.Met578=) | |
11 | g.112016777A>C | CA382590420 | DIXDC1 | c.1843A>C (p.Met615Leu) n.839A>C c.1210A>C (p.Met404Leu) n.1196A>C c.1840A>C (p.Met614Leu) c.961A>C (p.Met321Leu) c.955A>C (p.Met319Leu) c.1735A>C (p.Met579Leu) c.1732A>C (p.Met578Leu) | |
11 | g.112016777A>G | CA6276430 | DIXDC1 | c.1843A>G (p.Met615Val) n.839A>G c.1210A>G (p.Met404Val) n.1196A>G c.1840A>G (p.Met614Val) c.961A>G (p.Met321Val) c.955A>G (p.Met319Val) c.1735A>G (p.Met579Val) c.1732A>G (p.Met578Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.112016777A>T | CA382590424 | DIXDC1 | c.1843A>T (p.Met615Leu) n.839A>T c.1210A>T (p.Met404Leu) n.1196A>T c.1840A>T (p.Met614Leu) c.961A>T (p.Met321Leu) c.955A>T (p.Met319Leu) c.1735A>T (p.Met579Leu) c.1732A>T (p.Met578Leu) | |
11 | g.112016778T>A | CA382590429 | DIXDC1 | c.1844T>A (p.Met615Lys) n.840T>A c.1211T>A (p.Met404Lys) n.1197T>A c.1841T>A (p.Met614Lys) c.962T>A (p.Met321Lys) c.956T>A (p.Met319Lys) c.1736T>A (p.Met579Lys) c.1733T>A (p.Met578Lys) | gnomAD v4 |
11 | g.112016778T>C | CA382590427 | DIXDC1 | c.1844T>C (p.Met615Thr) n.840T>C c.1211T>C (p.Met404Thr) n.1197T>C c.1841T>C (p.Met614Thr) c.962T>C (p.Met321Thr) c.956T>C (p.Met319Thr) c.1736T>C (p.Met579Thr) c.1733T>C (p.Met578Thr) | gnomAD v4 |
11 | g.112016778T>G | CA382590426 | DIXDC1 | c.1844T>G (p.Met615Arg) n.840T>G c.1211T>G (p.Met404Arg) n.1197T>G c.1841T>G (p.Met614Arg) c.962T>G (p.Met321Arg) c.956T>G (p.Met319Arg) c.1736T>G (p.Met579Arg) c.1733T>G (p.Met578Arg) | |
11 | g.112016779G>A | CA382590431 | DIXDC1 | c.1845G>A (p.Met615Ile) n.841G>A c.1212G>A (p.Met404Ile) n.1198G>A c.1842G>A (p.Met614Ile) c.963G>A (p.Met321Ile) c.957G>A (p.Met319Ile) c.1737G>A (p.Met579Ile) c.1734G>A (p.Met578Ile) | |
11 | g.112016779G>C | CA382590436 | DIXDC1 | c.1845G>C (p.Met615Ile) n.841G>C c.1212G>C (p.Met404Ile) n.1198G>C c.1842G>C (p.Met614Ile) c.963G>C (p.Met321Ile) c.957G>C (p.Met319Ile) c.1737G>C (p.Met579Ile) c.1734G>C (p.Met578Ile) | |
11 | g.112016779G>T | CA382590434 | DIXDC1 | c.1845G>T (p.Met615Ile) n.841G>T c.1212G>T (p.Met404Ile) n.1198G>T c.1842G>T (p.Met614Ile) c.963G>T (p.Met321Ile) c.957G>T (p.Met319Ile) c.1737G>T (p.Met579Ile) c.1734G>T (p.Met578Ile) | gnomAD v4 |
11 | g.112016780G>A | CA382590438 | DIXDC1 | c.1846G>A (p.Val616Ile) n.842G>A c.1213G>A (p.Val405Ile) n.1199G>A c.1843G>A (p.Val615Ile) c.964G>A (p.Val322Ile) c.958G>A (p.Val320Ile) c.1738G>A (p.Val580Ile) c.1735G>A (p.Val579Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.112016780G>C | CA382590440 | DIXDC1 | c.1846G>C (p.Val616Leu) n.842G>C c.1213G>C (p.Val405Leu) n.1199G>C c.1843G>C (p.Val615Leu) c.964G>C (p.Val322Leu) c.958G>C (p.Val320Leu) c.1738G>C (p.Val580Leu) c.1735G>C (p.Val579Leu) | |
11 | g.112016780G= | CA2000524069 | DIXDC1 | c.1846G= (p.Val616=) n.842G= c.1213G= (p.Val405=) n.1199G= c.1843G= (p.Val615=) c.964G= (p.Val322=) c.958G= (p.Val320=) c.1738G= (p.Val580=) c.1735G= (p.Val579=) | |
11 | g.112016780G>T | CA382590442 | DIXDC1 | c.1846G>T (p.Val616Phe) n.842G>T c.1213G>T (p.Val405Phe) n.1199G>T c.1843G>T (p.Val615Phe) c.964G>T (p.Val322Phe) c.958G>T (p.Val320Phe) c.1738G>T (p.Val580Phe) c.1735G>T (p.Val579Phe) | |
11 | g.112016781T>A | CA382590444 | DIXDC1 | c.1847T>A (p.Val616Asp) n.843T>A c.1214T>A (p.Val405Asp) n.1200T>A c.1844T>A (p.Val615Asp) c.965T>A (p.Val322Asp) c.959T>A (p.Val320Asp) c.1739T>A (p.Val580Asp) c.1736T>A (p.Val579Asp) | |
11 | g.112016781T>C | CA382590445 | DIXDC1 | c.1847T>C (p.Val616Ala) n.843T>C c.1214T>C (p.Val405Ala) n.1200T>C c.1844T>C (p.Val615Ala) c.965T>C (p.Val322Ala) c.959T>C (p.Val320Ala) c.1739T>C (p.Val580Ala) c.1736T>C (p.Val579Ala) | gnomAD v4 |
11 | g.112016781T>G | CA382590446 | DIXDC1 | c.1847T>G (p.Val616Gly) n.843T>G c.1214T>G (p.Val405Gly) n.1200T>G c.1844T>G (p.Val615Gly) c.965T>G (p.Val322Gly) c.959T>G (p.Val320Gly) c.1739T>G (p.Val580Gly) c.1736T>G (p.Val579Gly) | |
11 | g.112016782C>A | CA476785629 | DIXDC1 | c.1848C>A (p.Val616=) n.844C>A c.1215C>A (p.Val405=) n.1201C>A c.1845C>A (p.Val615=) c.966C>A (p.Val322=) c.960C>A (p.Val320=) c.1740C>A (p.Val580=) c.1737C>A (p.Val579=) | gnomAD v4 |
11 | g.112016782C>G | CA476785627 | DIXDC1 | c.1848C>G (p.Val616=) n.844C>G c.1215C>G (p.Val405=) n.1201C>G c.1845C>G (p.Val615=) c.966C>G (p.Val322=) c.960C>G (p.Val320=) c.1740C>G (p.Val580=) c.1737C>G (p.Val579=) | |
11 | g.112016782C>T | CA476785626 | DIXDC1 | c.1848C>T (p.Val616=) n.844C>T c.1215C>T (p.Val405=) n.1201C>T c.1845C>T (p.Val615=) c.966C>T (p.Val322=) c.960C>T (p.Val320=) c.1740C>T (p.Val580=) c.1737C>T (p.Val579=) | |
11 | g.112016783A>C | CA382590447 | DIXDC1 | c.1849A>C (p.Asn617His) n.845A>C c.1216A>C (p.Asn406His) n.1202A>C c.1846A>C (p.Asn616His) c.967A>C (p.Asn323His) c.961A>C (p.Asn321His) c.1741A>C (p.Asn581His) c.1738A>C (p.Asn580His) | |
11 | g.112016783A>G | CA382590449 | DIXDC1 | c.1849A>G (p.Asn617Asp) n.845A>G c.1216A>G (p.Asn406Asp) n.1202A>G c.1846A>G (p.Asn616Asp) c.967A>G (p.Asn323Asp) c.961A>G (p.Asn321Asp) c.1741A>G (p.Asn581Asp) c.1738A>G (p.Asn580Asp) | gnomAD v4 |
11 | g.112016783A>T | CA382590450 | DIXDC1 | c.1849A>T (p.Asn617Tyr) n.845A>T c.1216A>T (p.Asn406Tyr) n.1202A>T c.1846A>T (p.Asn616Tyr) c.967A>T (p.Asn323Tyr) c.961A>T (p.Asn321Tyr) c.1741A>T (p.Asn581Tyr) c.1738A>T (p.Asn580Tyr) | |
11 | g.112016784A>C | CA382590451 | DIXDC1 | c.1850A>C (p.Asn617Thr) n.846A>C c.1217A>C (p.Asn406Thr) n.1203A>C c.1847A>C (p.Asn616Thr) c.968A>C (p.Asn323Thr) c.962A>C (p.Asn321Thr) c.1742A>C (p.Asn581Thr) c.1739A>C (p.Asn580Thr) | |
11 | g.112016784A>G | CA382590453 | DIXDC1 | c.1850A>G (p.Asn617Ser) n.846A>G c.1217A>G (p.Asn406Ser) n.1203A>G c.1847A>G (p.Asn616Ser) c.968A>G (p.Asn323Ser) c.962A>G (p.Asn321Ser) c.1742A>G (p.Asn581Ser) c.1739A>G (p.Asn580Ser) | gnomAD v4 |
11 | g.112016784A>T | CA382590455 | DIXDC1 | c.1850A>T (p.Asn617Ile) n.846A>T c.1217A>T (p.Asn406Ile) n.1203A>T c.1847A>T (p.Asn616Ile) c.968A>T (p.Asn323Ile) c.962A>T (p.Asn321Ile) c.1742A>T (p.Asn581Ile) c.1739A>T (p.Asn580Ile) | |
11 | g.112016785T>A | CA382590457 | DIXDC1 | c.1851T>A (p.Asn617Lys) n.847T>A c.1218T>A (p.Asn406Lys) n.1204T>A c.1848T>A (p.Asn616Lys) c.969T>A (p.Asn323Lys) c.963T>A (p.Asn321Lys) c.1743T>A (p.Asn581Lys) c.1740T>A (p.Asn580Lys) | |
11 | g.112016785T>C | CA476785637 | DIXDC1 | c.1851T>C (p.Asn617=) n.847T>C c.1218T>C (p.Asn406=) n.1204T>C c.1848T>C (p.Asn616=) c.969T>C (p.Asn323=) c.963T>C (p.Asn321=) c.1743T>C (p.Asn581=) c.1740T>C (p.Asn580=) | gnomAD v4 |
11 | g.112016785T>G | CA382590459 | DIXDC1 | c.1851T>G (p.Asn617Lys) n.847T>G c.1218T>G (p.Asn406Lys) n.1204T>G c.1848T>G (p.Asn616Lys) c.969T>G (p.Asn323Lys) c.963T>G (p.Asn321Lys) c.1743T>G (p.Asn581Lys) c.1740T>G (p.Asn580Lys) | |
11 | g.112016786A= | CA2000524070 | DIXDC1 | c.1852A= (p.Ile618=) n.848A= c.1219A= (p.Ile407=) n.1205A= c.1849A= (p.Ile617=) c.970A= (p.Ile324=) c.964A= (p.Ile322=) c.1744A= (p.Ile582=) c.1741A= (p.Ile581=) | |
11 | g.112016786A>C | CA382590462 | DIXDC1 | c.1852A>C (p.Ile618Leu) n.848A>C c.1219A>C (p.Ile407Leu) n.1205A>C c.1849A>C (p.Ile617Leu) c.970A>C (p.Ile324Leu) c.964A>C (p.Ile322Leu) c.1744A>C (p.Ile582Leu) c.1741A>C (p.Ile581Leu) | |
11 | g.112016786A>G | CA382590464 | DIXDC1 | c.1852A>G (p.Ile618Val) n.848A>G c.1219A>G (p.Ile407Val) n.1205A>G c.1849A>G (p.Ile617Val) c.970A>G (p.Ile324Val) c.964A>G (p.Ile322Val) c.1744A>G (p.Ile582Val) c.1741A>G (p.Ile581Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016786A>T | CA382590466 | DIXDC1 | c.1852A>T (p.Ile618Leu) n.848A>T c.1219A>T (p.Ile407Leu) n.1205A>T c.1849A>T (p.Ile617Leu) c.970A>T (p.Ile324Leu) c.964A>T (p.Ile322Leu) c.1744A>T (p.Ile582Leu) c.1741A>T (p.Ile581Leu) | |
11 | g.112016787T>A | CA382590468 | DIXDC1 | c.1853T>A (p.Ile618Lys) n.849T>A c.1220T>A (p.Ile407Lys) n.1206T>A c.1850T>A (p.Ile617Lys) c.971T>A (p.Ile324Lys) c.965T>A (p.Ile322Lys) c.1745T>A (p.Ile582Lys) c.1742T>A (p.Ile581Lys) | |
11 | g.112016787T>C | CA382590470 | DIXDC1 | c.1853T>C (p.Ile618Thr) n.849T>C c.1220T>C (p.Ile407Thr) n.1206T>C c.1850T>C (p.Ile617Thr) c.971T>C (p.Ile324Thr) c.965T>C (p.Ile322Thr) c.1745T>C (p.Ile582Thr) c.1742T>C (p.Ile581Thr) | |
11 | g.112016787T>G | CA382590472 | DIXDC1 | c.1853T>G (p.Ile618Arg) n.849T>G c.1220T>G (p.Ile407Arg) n.1206T>G c.1850T>G (p.Ile617Arg) c.971T>G (p.Ile324Arg) c.965T>G (p.Ile322Arg) c.1745T>G (p.Ile582Arg) c.1742T>G (p.Ile581Arg) | |
11 | g.112016787T= | CA2000524071 | DIXDC1 | c.1853T= (p.Ile618=) n.849T= c.1220T= (p.Ile407=) n.1206T= c.1850T= (p.Ile617=) c.971T= (p.Ile324=) c.965T= (p.Ile322=) c.1745T= (p.Ile582=) c.1742T= (p.Ile581=) | |
11 | g.112016788A>C | CA476785645 | DIXDC1 | c.1854A>C (p.Ile618=) n.850A>C c.1221A>C (p.Ile407=) n.1207A>C c.1851A>C (p.Ile617=) c.972A>C (p.Ile324=) c.966A>C (p.Ile322=) c.1746A>C (p.Ile582=) c.1743A>C (p.Ile581=) | |
11 | g.112016788A>G | CA382590474 | DIXDC1 | c.1854A>G (p.Ile618Met) n.850A>G c.1221A>G (p.Ile407Met) n.1207A>G c.1851A>G (p.Ile617Met) c.972A>G (p.Ile324Met) c.966A>G (p.Ile322Met) c.1746A>G (p.Ile582Met) c.1743A>G (p.Ile581Met) | |
11 | g.112016788A>T | CA476785648 | DIXDC1 | c.1854A>T (p.Ile618=) n.850A>T c.1221A>T (p.Ile407=) n.1207A>T c.1851A>T (p.Ile617=) c.972A>T (p.Ile324=) c.966A>T (p.Ile322=) c.1746A>T (p.Ile582=) c.1743A>T (p.Ile581=) | |
11 | g.112016788dup | CA671773604 | DIXDC1 | c.1854dup (p.Pro619ThrfsTer13) n.850dup c.1221dup (p.Pro408ThrfsTer13) n.1207dup c.1851dup (p.Pro618ThrfsTer13) c.972dup (p.Pro325ThrfsTer13) c.966dup (p.Pro323ThrfsTer13) c.1746dup (p.Pro583ThrfsTer13) c.1743dup (p.Pro582ThrfsTer13) | dbSNP gnomAD v4 |
11 | g.112016789C>A | CA382590477 | DIXDC1 | c.1855C>A (p.Pro619Thr) n.851C>A c.1222C>A (p.Pro408Thr) n.1208C>A c.1852C>A (p.Pro618Thr) c.973C>A (p.Pro325Thr) c.967C>A (p.Pro323Thr) c.1747C>A (p.Pro583Thr) c.1744C>A (p.Pro582Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016789C= | CA2000524072 | DIXDC1 | c.1855C= (p.Pro619=) n.851C= c.1222C= (p.Pro408=) n.1208C= c.1852C= (p.Pro618=) c.973C= (p.Pro325=) c.967C= (p.Pro323=) c.1747C= (p.Pro583=) c.1744C= (p.Pro582=) | |
11 | g.112016789C>G | CA6276431 | DIXDC1 | c.1855C>G (p.Pro619Ala) n.851C>G c.1222C>G (p.Pro408Ala) n.1208C>G c.1852C>G (p.Pro618Ala) c.973C>G (p.Pro325Ala) c.967C>G (p.Pro323Ala) c.1747C>G (p.Pro583Ala) c.1744C>G (p.Pro582Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.112016789C>T | CA382590481 | DIXDC1 | c.1855C>T (p.Pro619Ser) n.851C>T c.1222C>T (p.Pro408Ser) n.1208C>T c.1852C>T (p.Pro618Ser) c.973C>T (p.Pro325Ser) c.967C>T (p.Pro323Ser) c.1747C>T (p.Pro583Ser) c.1744C>T (p.Pro582Ser) | |
11 | g.112016790C>A | CA382590483 | DIXDC1 | c.1856C>A (p.Pro619Gln) n.852C>A c.1223C>A (p.Pro408Gln) n.1209C>A c.1853C>A (p.Pro618Gln) c.974C>A (p.Pro325Gln) c.968C>A (p.Pro323Gln) c.1748C>A (p.Pro583Gln) c.1745C>A (p.Pro582Gln) | dbSNP |
11 | g.112016790C= | CA2000524073 | DIXDC1 | c.1856C= (p.Pro619=) n.852C= c.1223C= (p.Pro408=) n.1209C= c.1853C= (p.Pro618=) c.974C= (p.Pro325=) c.968C= (p.Pro323=) c.1748C= (p.Pro583=) c.1745C= (p.Pro582=) | |
11 | g.112016790C>G | CA382590485 | DIXDC1 | c.1856C>G (p.Pro619Arg) n.852C>G c.1223C>G (p.Pro408Arg) n.1209C>G c.1853C>G (p.Pro618Arg) c.974C>G (p.Pro325Arg) c.968C>G (p.Pro323Arg) c.1748C>G (p.Pro583Arg) c.1745C>G (p.Pro582Arg) | |
11 | g.112016790C>T | CA382590487 | DIXDC1 | c.1856C>T (p.Pro619Leu) n.852C>T c.1223C>T (p.Pro408Leu) n.1209C>T c.1853C>T (p.Pro618Leu) c.974C>T (p.Pro325Leu) c.968C>T (p.Pro323Leu) c.1748C>T (p.Pro583Leu) c.1745C>T (p.Pro582Leu) | gnomAD v4 |
11 | g.112016791A>C | CA476785652 | DIXDC1 | c.1857A>C (p.Pro619=) n.853A>C c.1224A>C (p.Pro408=) n.1210A>C c.1854A>C (p.Pro618=) c.975A>C (p.Pro325=) c.969A>C (p.Pro323=) c.1749A>C (p.Pro583=) c.1746A>C (p.Pro582=) | |
11 | g.112016791A>G | CA476785653 | DIXDC1 | c.1857A>G (p.Pro619=) n.853A>G c.1224A>G (p.Pro408=) n.1210A>G c.1854A>G (p.Pro618=) c.975A>G (p.Pro325=) c.969A>G (p.Pro323=) c.1749A>G (p.Pro583=) c.1746A>G (p.Pro582=) | |
11 | g.112016791A>T | CA476785654 | DIXDC1 | c.1857A>T (p.Pro619=) n.853A>T c.1224A>T (p.Pro408=) n.1210A>T c.1854A>T (p.Pro618=) c.975A>T (p.Pro325=) c.969A>T (p.Pro323=) c.1749A>T (p.Pro583=) c.1746A>T (p.Pro582=) | |
11 | g.112016792A>C | CA382590490 | DIXDC1 | c.1858A>C (p.Lys620Gln) n.854A>C c.1225A>C (p.Lys409Gln) n.1211A>C c.1855A>C (p.Lys619Gln) c.976A>C (p.Lys326Gln) c.970A>C (p.Lys324Gln) c.1750A>C (p.Lys584Gln) c.1747A>C (p.Lys583Gln) | |
11 | g.112016792A>G | CA382590494 | DIXDC1 | c.1858A>G (p.Lys620Glu) n.854A>G c.1225A>G (p.Lys409Glu) n.1211A>G c.1855A>G (p.Lys619Glu) c.976A>G (p.Lys326Glu) c.970A>G (p.Lys324Glu) c.1750A>G (p.Lys584Glu) c.1747A>G (p.Lys583Glu) | |
11 | g.112016792A>T | CA382590492 | DIXDC1 | c.1858A>T (p.Lys620Ter) n.854A>T c.1225A>T (p.Lys409Ter) n.1211A>T c.1855A>T (p.Lys619Ter) c.976A>T (p.Lys326Ter) c.970A>T (p.Lys324Ter) c.1750A>T (p.Lys584Ter) c.1747A>T (p.Lys583Ter) | |
11 | g.112016793A>C | CA382590497 | DIXDC1 | c.1859A>C (p.Lys620Thr) n.855A>C c.1226A>C (p.Lys409Thr) n.1212A>C c.1856A>C (p.Lys619Thr) c.977A>C (p.Lys326Thr) c.971A>C (p.Lys324Thr) c.1751A>C (p.Lys584Thr) c.1748A>C (p.Lys583Thr) | |
11 | g.112016793A>G | CA382590499 | DIXDC1 | c.1859A>G (p.Lys620Arg) n.855A>G c.1226A>G (p.Lys409Arg) n.1212A>G c.1856A>G (p.Lys619Arg) c.977A>G (p.Lys326Arg) c.971A>G (p.Lys324Arg) c.1751A>G (p.Lys584Arg) c.1748A>G (p.Lys583Arg) | |
11 | g.112016793A>T | CA382590501 | DIXDC1 | c.1859A>T (p.Lys620Met) n.855A>T c.1226A>T (p.Lys409Met) n.1212A>T c.1856A>T (p.Lys619Met) c.977A>T (p.Lys326Met) c.971A>T (p.Lys324Met) c.1751A>T (p.Lys584Met) c.1748A>T (p.Lys583Met) | |
11 | g.112016794G>A | CA476785656 | DIXDC1 | c.1860G>A (p.Lys620=) n.856G>A c.1227G>A (p.Lys409=) n.1213G>A c.1857G>A (p.Lys619=) c.978G>A (p.Lys326=) c.972G>A (p.Lys324=) c.1752G>A (p.Lys584=) c.1749G>A (p.Lys583=) | |
11 | g.112016794G>C | CA382590504 | DIXDC1 | c.1860G>C (p.Lys620Asn) n.856G>C c.1227G>C (p.Lys409Asn) n.1213G>C c.1857G>C (p.Lys619Asn) c.978G>C (p.Lys326Asn) c.972G>C (p.Lys324Asn) c.1752G>C (p.Lys584Asn) c.1749G>C (p.Lys583Asn) | |
11 | g.112016794G>T | CA382590505 | DIXDC1 | c.1860G>T (p.Lys620Asn) n.856G>T c.1227G>T (p.Lys409Asn) n.1213G>T c.1857G>T (p.Lys619Asn) c.978G>T (p.Lys326Asn) c.972G>T (p.Lys324Asn) c.1752G>T (p.Lys584Asn) c.1749G>T (p.Lys583Asn) | |
11 | g.112016795A= | CA2000524074 | DIXDC1 | c.1861A= (p.Arg621=) n.857A= c.1228A= (p.Arg410=) n.1214A= c.1858A= (p.Arg620=) c.979A= (p.Arg327=) c.973A= (p.Arg325=) c.1753A= (p.Arg585=) c.1750A= (p.Arg584=) | |
11 | g.112016795A>C | CA476785660 | DIXDC1 | c.1861A>C (p.Arg621=) n.857A>C c.1228A>C (p.Arg410=) n.1214A>C c.1858A>C (p.Arg620=) c.979A>C (p.Arg327=) c.973A>C (p.Arg325=) c.1753A>C (p.Arg585=) c.1750A>C (p.Arg584=) | |
11 | g.112016795A>G | CA382590507 | DIXDC1 | c.1861A>G (p.Arg621Gly) n.857A>G c.1228A>G (p.Arg410Gly) n.1214A>G c.1858A>G (p.Arg620Gly) c.979A>G (p.Arg327Gly) c.973A>G (p.Arg325Gly) c.1753A>G (p.Arg585Gly) c.1750A>G (p.Arg584Gly) | |
11 | g.112016795A>T | CA6276432 | DIXDC1 | c.1861A>T (p.Arg621Trp) n.857A>T c.1228A>T (p.Arg410Trp) n.1214A>T c.1858A>T (p.Arg620Trp) c.979A>T (p.Arg327Trp) c.973A>T (p.Arg325Trp) c.1753A>T (p.Arg585Trp) c.1750A>T (p.Arg584Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.112016796G>A | CA382590509 | DIXDC1 | c.1862G>A (p.Arg621Lys) n.858G>A c.1229G>A (p.Arg410Lys) n.1215G>A c.1859G>A (p.Arg620Lys) c.980G>A (p.Arg327Lys) c.974G>A (p.Arg325Lys) c.1754G>A (p.Arg585Lys) c.1751G>A (p.Arg584Lys) | |
11 | g.112016796G>C | CA382590512 | DIXDC1 | c.1862G>C (p.Arg621Thr) n.858G>C c.1229G>C (p.Arg410Thr) n.1215G>C c.1859G>C (p.Arg620Thr) c.980G>C (p.Arg327Thr) c.974G>C (p.Arg325Thr) c.1754G>C (p.Arg585Thr) c.1751G>C (p.Arg584Thr) | dbSNP |
11 | g.112016796G= | CA2000524075 | DIXDC1 | c.1862G= (p.Arg621=) n.858G= c.1229G= (p.Arg410=) n.1215G= c.1859G= (p.Arg620=) c.980G= (p.Arg327=) c.974G= (p.Arg325=) c.1754G= (p.Arg585=) c.1751G= (p.Arg584=) | |
11 | g.112016796G>T | CA6276433 | DIXDC1 | c.1862G>T (p.Arg621Met) n.858G>T c.1229G>T (p.Arg410Met) n.1215G>T c.1859G>T (p.Arg620Met) c.980G>T (p.Arg327Met) c.974G>T (p.Arg325Met) c.1754G>T (p.Arg585Met) c.1751G>T (p.Arg584Met) | dbSNP ExAC gnomAD v2 |
11 | g.112016797G>A | CA382590516 | DIXDC1 | c.1862+1G>A (n.1862+1G>A) n.858+1G>A c.1229+1G>A (n.1229+1G>A) n.1215+1G>A c.1859+1G>A (n.1859+1G>A) c.980+1G>A (n.980+1G>A) c.974+1G>A (n.974+1G>A) c.1754+1G>A (n.1754+1G>A) c.1751+1G>A (n.1751+1G>A) | gnomAD v4 |
11 | g.112016797G>C | CA382590518 | DIXDC1 | c.1862+1G>C (n.1862+1G>C) n.858+1G>C c.1229+1G>C (n.1229+1G>C) n.1215+1G>C c.1859+1G>C (n.1859+1G>C) c.980+1G>C (n.980+1G>C) c.974+1G>C (n.974+1G>C) c.1754+1G>C (n.1754+1G>C) c.1751+1G>C (n.1751+1G>C) | |
11 | g.112016797G>T | CA382590521 | DIXDC1 | c.1862+1G>T (n.1862+1G>T) n.858+1G>T c.1229+1G>T (n.1229+1G>T) n.1215+1G>T c.1859+1G>T (n.1859+1G>T) c.980+1G>T (n.980+1G>T) c.974+1G>T (n.974+1G>T) c.1754+1G>T (n.1754+1G>T) c.1751+1G>T (n.1751+1G>T) | |
11 | g.112016798T>A | CA382590524 | DIXDC1 | c.1862+2T>A (n.1862+2T>A) n.858+2T>A c.1229+2T>A (n.1229+2T>A) n.1215+2T>A c.1859+2T>A (n.1859+2T>A) c.980+2T>A (n.980+2T>A) c.974+2T>A (n.974+2T>A) c.1754+2T>A (n.1754+2T>A) c.1751+2T>A (n.1751+2T>A) | |
11 | g.112016798T>C | CA382590533 | DIXDC1 | c.1862+2T>C (n.1862+2T>C) n.858+2T>C c.1229+2T>C (n.1229+2T>C) n.1215+2T>C c.1859+2T>C (n.1859+2T>C) c.980+2T>C (n.980+2T>C) c.974+2T>C (n.974+2T>C) c.1754+2T>C (n.1754+2T>C) c.1751+2T>C (n.1751+2T>C) | gnomAD v4 |
11 | g.112016798T>G | CA382590530 | DIXDC1 | c.1862+2T>G (n.1862+2T>G) n.858+2T>G c.1229+2T>G (n.1229+2T>G) n.1215+2T>G c.1859+2T>G (n.1859+2T>G) c.980+2T>G (n.980+2T>G) c.974+2T>G (n.974+2T>G) c.1754+2T>G (n.1754+2T>G) c.1751+2T>G (n.1751+2T>G) |