Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.112016702_112016705delCA2615974316DIXDC1c.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
11g.112016699C>ACA382589851DIXDC1c.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
11g.112016699C=CA2000524040DIXDC1c.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=)
11g.112016699C>GCA382589852DIXDC1c.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
11g.112016699C>TCA382589854DIXDC1c.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
11g.112016700A>CCA382589858DIXDC1c.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)
11g.112016700A>GCA382589860DIXDC1c.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)
11g.112016700A>TCA382589862DIXDC1c.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)
11g.112016701C>ACA382589865DIXDC1c.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)
11g.112016701C=CA2000524041DIXDC1c.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=)
11g.112016701C>GCA382589872DIXDC1c.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)
11g.112016701C>TCA476785552DIXDC1c.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
11g.112016702T>ACA382589874DIXDC1c.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)
11g.112016702T>CCA382589884DIXDC1c.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
11g.112016702T>GCA382589886DIXDC1c.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
11g.112016702_112016704delinsTCACA2000524042DIXDC1c.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=)
11g.112016703C>ACA382589892DIXDC1c.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
11g.112016703C>GCA382589889DIXDC1c.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)
11g.112016703C>TCA382589888DIXDC1c.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)
11g.112016705_112016706delCA6276420DIXDC1c.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
11g.112016704A>CCA476785554DIXDC1c.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=)
11g.112016704A>GCA476785555DIXDC1c.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=)
11g.112016704A>TCA476785557DIXDC1c.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=)
11g.112016705C>ACA382589895DIXDC1c.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)
11g.112016705C>GCA382589899DIXDC1c.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)
11g.112016705C>TCA382589902DIXDC1c.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)
11g.112016706A>CCA382589905DIXDC1c.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)
11g.112016706A>GCA382589910DIXDC1c.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
11g.112016706A>TCA382589913DIXDC1c.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)
11g.112016707G>ACA476785558DIXDC1c.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=)
11g.112016707G>CCA382589916DIXDC1c.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)
11g.112016707G>TCA382589918DIXDC1c.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)
11g.112016708A=CA2000524043DIXDC1c.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=)
11g.112016708A>CCA382589919DIXDC1c.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)
11g.112016708A>GCA382589920DIXDC1c.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
11g.112016708A>TCA382589922DIXDC1c.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)
11g.112016709G>ACA382589932DIXDC1c.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
11g.112016709G>CCA382589930DIXDC1c.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
11g.112016709G=CA2000524044DIXDC1c.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=)
11g.112016709G>TCA382589927DIXDC1c.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)
11g.112016710C>ACA382589934DIXDC1c.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)
11g.112016710C>GCA382589935DIXDC1c.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)
11g.112016710C>TCA476785562DIXDC1c.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=)
11g.112016710_112016711delinsCTCA2000524045DIXDC1c.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=)
11g.112016711delCA601734650DIXDC1c.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
11g.112016711T>ACA382589943DIXDC1c.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)
11g.112016711T>CCA382589946DIXDC1c.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
11g.112016711T>GCA382589949DIXDC1c.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)
11g.112016711T=CA2000524046DIXDC1c.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=)
11g.112016712C>ACA382589951DIXDC1c.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
11g.112016712C=CA2000524047DIXDC1c.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=)
11g.112016712C>GCA382589952DIXDC1c.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)
11g.112016712C>TCA382589956DIXDC1c.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
11g.112016713T>ACA476785563DIXDC1c.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=)
11g.112016713T>CCA476785564DIXDC1c.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
11g.112016713T>GCA476785565DIXDC1c.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
11g.112016714C>ACA382589960DIXDC1c.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)
11g.112016714C>GCA382589963DIXDC1c.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)
11g.112016714C>TCA382589975DIXDC1c.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)
11g.112016715C>ACA382589982DIXDC1c.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)
11g.112016715C>GCA382589978DIXDC1c.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)
11g.112016715C>TCA382589977DIXDC1c.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)
11g.112016716A=CA2000524048DIXDC1c.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=)
11g.112016716A>CCA476785566DIXDC1c.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=)
11g.112016716A>GCA6276421DIXDC1c.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
11g.112016716A>TCA476785567DIXDC1c.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=)
11g.112016717A=CA2000524049DIXDC1c.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=)
11g.112016717A>CCA382589992DIXDC1c.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)
11g.112016717A>GCA382590011DIXDC1c.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
11g.112016717A>TCA382590014DIXDC1c.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)
11g.112016718C>ACA382590019DIXDC1c.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)
11g.112016718C>GCA382590021DIXDC1c.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)
11g.112016718C>TCA382590026DIXDC1c.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)
11g.112016719T>ACA476785568DIXDC1c.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=)
11g.112016719T>CCA476785569DIXDC1c.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=)
11g.112016719T>GCA476785570DIXDC1c.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
11g.112016719T=CA2000524050DIXDC1c.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=)
11g.112016720G>ACA382590031DIXDC1c.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)
11g.112016720G>CCA382590046DIXDC1c.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)
11g.112016720G>TCA382590057DIXDC1c.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)
11g.112016721T>ACA382590062DIXDC1c.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)
11g.112016721T>CCA382590066DIXDC1c.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
11g.112016721T>GCA382590068DIXDC1c.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)
11g.112016722C>ACA476785571DIXDC1c.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=)
11g.112016722C>GCA476785572DIXDC1c.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=)
11g.112016722C>TCA476785573DIXDC1c.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
11g.112016723A>CCA382590096DIXDC1c.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)
11g.112016723A>GCA382590093DIXDC1c.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)
11g.112016723A>TCA382590082DIXDC1c.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)
11g.112016724G>ACA382590110DIXDC1c.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)
11g.112016724G>CCA382590101DIXDC1c.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)
11g.112016724G>TCA382590113DIXDC1c.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)
11g.112016725C>ACA382590121DIXDC1c.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)
11g.112016725C>GCA382590125DIXDC1c.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)
11g.112016725C>TCA476785574DIXDC1c.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
11g.112016726A>CCA382590128DIXDC1c.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)
11g.112016726A>GCA382590132DIXDC1c.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
11g.112016726A>TCA382590140DIXDC1c.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)
11g.112016727G>ACA382590145DIXDC1c.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)
11g.112016727G>CCA382590146DIXDC1c.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)
11g.112016727G>TCA382590147DIXDC1c.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)
11g.112016728C>ACA382590150DIXDC1c.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)
11g.112016728C>GCA382590154DIXDC1c.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
11g.112016728C>TCA476785575DIXDC1c.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=)
11g.112016729A=CA2000524051DIXDC1c.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=)
11g.112016729A>CCA382590157DIXDC1c.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)
11g.112016729A>GCA382590162DIXDC1c.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
11g.112016729A>TCA382590165DIXDC1c.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)
11g.112016730C>ACA382590174DIXDC1c.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)
11g.112016730C>GCA382590169DIXDC1c.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
11g.112016730C>TCA382590171DIXDC1c.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
11g.112016731C>ACA476785578DIXDC1c.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=)
11g.112016731C>GCA476785577DIXDC1c.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=)
11g.112016731C>TCA476785576DIXDC1c.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
11g.112016732T>ACA382590178DIXDC1c.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
11g.112016732T>CCA382590190DIXDC1c.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
11g.112016732T>GCA382590192DIXDC1c.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)
11g.112016732T=CA2000524052DIXDC1c.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=)
11g.112016733G>ACA382590193DIXDC1c.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)
11g.112016733G>CCA382590194DIXDC1c.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)
11g.112016733G=CA2000524053DIXDC1c.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=)
11g.112016733G>TCA6276422DIXDC1c.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
11g.112016734T>ACA382590199DIXDC1c.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)
11g.112016734T>CCA476785579DIXDC1c.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=)
11g.112016734T>GCA382590206DIXDC1c.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)
11g.112016735A>CCA382590212DIXDC1c.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)
11g.112016735A>GCA382590215DIXDC1c.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
11g.112016735A>TCA382590218DIXDC1c.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)
11g.112016735_112016736delinsACCA2000524054DIXDC1c.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=)
11g.112016736delCA228536506DIXDC1c.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
11g.112016736C>ACA382590220DIXDC1c.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)
11g.112016736C>GCA382590219DIXDC1c.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)
11g.112016736C>TCA382590221DIXDC1c.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)
11g.112016737T>ACA476785582DIXDC1c.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=)
11g.112016737T>CCA476785580DIXDC1c.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=)
11g.112016737T>GCA476785581DIXDC1c.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=)
11g.112016738A>CCA382590222DIXDC1c.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
11g.112016738A>GCA382590223DIXDC1c.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)
11g.112016738A>TCA382590225DIXDC1c.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)
11g.112016739A>CCA382590231DIXDC1c.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)
11g.112016739A>GCA382590232DIXDC1c.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)
11g.112016739A>TCA382590233DIXDC1c.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)
11g.112016740A>CCA382590234DIXDC1c.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)
11g.112016740A>GCA476785583DIXDC1c.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=)
11g.112016740A>TCA382590235DIXDC1c.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)
11g.112016741G>ACA382590237DIXDC1c.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
11g.112016741G>CCA6276423DIXDC1c.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
11g.112016741G=CA2000524055DIXDC1c.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=)
11g.112016741G>TCA382590244DIXDC1c.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
11g.112016742T>ACA382590249DIXDC1c.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)
11g.112016742T>CCA382590251DIXDC1c.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)
11g.112016742T>GCA382590247DIXDC1c.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)
11g.112016743G>ACA228536527DIXDC1c.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
11g.112016743G>CCA476785584DIXDC1c.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=)
11g.112016743G=CA2000524056DIXDC1c.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=)
11g.112016743G>TCA476785585DIXDC1c.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=)
11g.112016744C>ACA382590254DIXDC1c.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)
11g.112016744C>GCA382590256DIXDC1c.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)
11g.112016744C>TCA382590258DIXDC1c.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)
11g.112016745T>ACA382590262DIXDC1c.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)
11g.112016745T>CCA382590265DIXDC1c.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
11g.112016745T>GCA382590268DIXDC1c.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)
11g.112016746C>ACA476785586DIXDC1c.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=)
11g.112016746C=CA2000524057DIXDC1c.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=)
11g.112016746C>GCA476785587DIXDC1c.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
11g.112016746C>TCA476785588DIXDC1c.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=)
11g.112016747T>ACA382590272DIXDC1c.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)
11g.112016747T>CCA382590278DIXDC1c.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
11g.112016747T>GCA382590275DIXDC1c.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)
11g.112016748A=CA2000524058DIXDC1c.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=)
11g.112016748A>CCA382590281DIXDC1c.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)
11g.112016748A>GCA6276424DIXDC1c.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
11g.112016748A>TCA382590285DIXDC1c.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)
11g.112016749T>ACA382590289DIXDC1c.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)
11g.112016749T>CCA476785589DIXDC1c.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=)
11g.112016749T>GCA382590292DIXDC1c.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)
11g.112016751delCA2615974426DIXDC1c.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
11g.112016750T>ACA382590297DIXDC1c.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)
11g.112016750T>CCA382590299DIXDC1c.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)
11g.112016750T>GCA382590295DIXDC1c.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)
11g.112016751T>ACA382590303DIXDC1c.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)
11g.112016751T>CCA382590306DIXDC1c.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)
11g.112016751T>GCA382590305DIXDC1c.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)
11g.112016752C>ACA382590309DIXDC1c.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)
11g.112016752C>GCA382590311DIXDC1c.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)
11g.112016752C>TCA476785592DIXDC1c.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=)
11g.112016753A>CCA382590313DIXDC1c.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)
11g.112016753A>GCA382590314DIXDC1c.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
11g.112016753A>TCA382590315DIXDC1c.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)
11g.112016754C>ACA382590316DIXDC1c.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)
11g.112016754C=CA2000524059DIXDC1c.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=)
11g.112016754C>GCA382590317DIXDC1c.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)
11g.112016754C>TCA382590321DIXDC1c.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
11g.112016755T>ACA476785595DIXDC1c.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=)
11g.112016755T>CCA6276425DIXDC1c.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
11g.112016755T>GCA476785596DIXDC1c.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=)
11g.112016755T=CA2000524060DIXDC1c.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=)
11g.112016756G>ACA382590325DIXDC1c.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)
11g.112016756G>CCA382590328DIXDC1c.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)
11g.112016756G>TCA382590330DIXDC1c.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)
11g.112016757A>CCA382590332DIXDC1c.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
11g.112016757A>GCA382590338DIXDC1c.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)
11g.112016757A>TCA382590340DIXDC1c.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)
11g.112016758C>ACA382590343DIXDC1c.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
11g.112016758C=CA2000524061DIXDC1c.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=)
11g.112016758C>GCA382590346DIXDC1c.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)
11g.112016758C>TCA6276426DIXDC1c.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
11g.112016759C>ACA476785599DIXDC1c.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
11g.112016759C=CA2000524062DIXDC1c.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=)
11g.112016759C>GCA382590347DIXDC1c.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)
11g.112016759C>TCA6276427DIXDC1c.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
11g.112016760G>ACA382590350DIXDC1c.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
11g.112016760G>CCA382590352DIXDC1c.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)
11g.112016760G=CA2000524063DIXDC1c.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=)
11g.112016760G>TCA382590353DIXDC1c.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
11g.112016761G>ACA476785600DIXDC1c.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
11g.112016761G>CCA476785602DIXDC1c.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=)
11g.112016761G>TCA476785604DIXDC1c.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=)
11g.112016762T>ACA382590354DIXDC1c.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)
11g.112016762T>CCA382590355DIXDC1c.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)
11g.112016762T>GCA382590356DIXDC1c.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)
11g.112016763C>ACA382590357DIXDC1c.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)
11g.112016763C>GCA382590358DIXDC1c.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)
11g.112016763C>TCA382590360DIXDC1c.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
11g.112016764A>CCA476785606DIXDC1c.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=)
11g.112016764A>GCA476785607DIXDC1c.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=)
11g.112016764A>TCA476785609DIXDC1c.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=)
11g.112016765C>ACA382590362DIXDC1c.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)
11g.112016765C>GCA382590367DIXDC1c.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)
11g.112016765C>TCA382590364DIXDC1c.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)
11g.112016765_112016778delinsCTTACGCCCTTCATCA2000524064DIXDC1c.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=)
11g.112016766T>ACA382590370DIXDC1c.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)
11g.112016766T>CCA382590372DIXDC1c.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)
11g.112016766T>GCA382590374DIXDC1c.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)
11g.112016766_112016778delCA6276428DIXDC1c.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
11g.112016767T>ACA476785610DIXDC1c.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=)
11g.112016767T>CCA476785611DIXDC1c.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=)
11g.112016767T>GCA476785612DIXDC1c.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=)
11g.112016767T=CA2000524065DIXDC1c.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=)
11g.112016768A>CCA382590377DIXDC1c.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)
11g.112016768A>GCA382590379DIXDC1c.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)
11g.112016768A>TCA382590381DIXDC1c.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)
11g.112016768dupCA918969066DIXDC1c.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
11g.112016769C>ACA382590382DIXDC1c.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
11g.112016769C=CA2000524066DIXDC1c.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=)
11g.112016769C>GCA382590383DIXDC1c.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
11g.112016769C>TCA6276429DIXDC1c.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
11g.112016770G>ACA476785613DIXDC1c.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
11g.112016770G>CCA476785614DIXDC1c.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
11g.112016770G=CA2000524067DIXDC1c.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=)
11g.112016770G>TCA476785615DIXDC1c.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=)
11g.112016771C>ACA382590386DIXDC1c.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)
11g.112016771C>GCA382590388DIXDC1c.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)
11g.112016771C>TCA382590390DIXDC1c.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)
11g.112016772C>ACA382590397DIXDC1c.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)
11g.112016772C>GCA382590393DIXDC1c.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
11g.112016772C>TCA382590395DIXDC1c.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)
11g.112016773C>ACA476785619DIXDC1c.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
11g.112016773C>GCA476785616DIXDC1c.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=)
11g.112016773C>TCA476785617DIXDC1c.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=)
11g.112016774T>ACA382590399DIXDC1c.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)
11g.112016774T>CCA382590401DIXDC1c.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)
11g.112016774T>GCA382590403DIXDC1c.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)
11g.112016775T>ACA382590406DIXDC1c.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
11g.112016775T>CCA382590408DIXDC1c.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)
11g.112016775T>GCA382590411DIXDC1c.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)
11g.112016776C>ACA382590415DIXDC1c.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)
11g.112016776C>GCA382590417DIXDC1c.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)
11g.112016776C>TCA476785621DIXDC1c.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=)
11g.112016777A=CA2000524068DIXDC1c.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=)
11g.112016777A>CCA382590420DIXDC1c.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)
11g.112016777A>GCA6276430DIXDC1c.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
11g.112016777A>TCA382590424DIXDC1c.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)
11g.112016778T>ACA382590429DIXDC1c.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
11g.112016778T>CCA382590427DIXDC1c.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
11g.112016778T>GCA382590426DIXDC1c.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)
11g.112016779G>ACA382590431DIXDC1c.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)
11g.112016779G>CCA382590436DIXDC1c.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)
11g.112016779G>TCA382590434DIXDC1c.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
11g.112016780G>ACA382590438DIXDC1c.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
11g.112016780G>CCA382590440DIXDC1c.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)
11g.112016780G=CA2000524069DIXDC1c.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=)
11g.112016780G>TCA382590442DIXDC1c.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)
11g.112016781T>ACA382590444DIXDC1c.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)
11g.112016781T>CCA382590445DIXDC1c.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
11g.112016781T>GCA382590446DIXDC1c.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)
11g.112016782C>ACA476785629DIXDC1c.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
11g.112016782C>GCA476785627DIXDC1c.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=)
11g.112016782C>TCA476785626DIXDC1c.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=)
11g.112016783A>CCA382590447DIXDC1c.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)
11g.112016783A>GCA382590449DIXDC1c.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
11g.112016783A>TCA382590450DIXDC1c.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)
11g.112016784A>CCA382590451DIXDC1c.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)
11g.112016784A>GCA382590453DIXDC1c.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
11g.112016784A>TCA382590455DIXDC1c.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)
11g.112016785T>ACA382590457DIXDC1c.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)
11g.112016785T>CCA476785637DIXDC1c.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
11g.112016785T>GCA382590459DIXDC1c.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)
11g.112016786A=CA2000524070DIXDC1c.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=)
11g.112016786A>CCA382590462DIXDC1c.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)
11g.112016786A>GCA382590464DIXDC1c.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
11g.112016786A>TCA382590466DIXDC1c.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)
11g.112016787T>ACA382590468DIXDC1c.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)
11g.112016787T>CCA382590470DIXDC1c.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)
11g.112016787T>GCA382590472DIXDC1c.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)
11g.112016787T=CA2000524071DIXDC1c.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=)
11g.112016788A>CCA476785645DIXDC1c.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=)
11g.112016788A>GCA382590474DIXDC1c.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)
11g.112016788A>TCA476785648DIXDC1c.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=)
11g.112016788dupCA671773604DIXDC1c.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
11g.112016789C>ACA382590477DIXDC1c.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
11g.112016789C=CA2000524072DIXDC1c.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=)
11g.112016789C>GCA6276431DIXDC1c.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
11g.112016789C>TCA382590481DIXDC1c.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)
11g.112016790C>ACA382590483DIXDC1c.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
11g.112016790C=CA2000524073DIXDC1c.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=)
11g.112016790C>GCA382590485DIXDC1c.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)
11g.112016790C>TCA382590487DIXDC1c.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
11g.112016791A>CCA476785652DIXDC1c.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=)
11g.112016791A>GCA476785653DIXDC1c.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=)
11g.112016791A>TCA476785654DIXDC1c.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=)
11g.112016792A>CCA382590490DIXDC1c.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)
11g.112016792A>GCA382590494DIXDC1c.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)
11g.112016792A>TCA382590492DIXDC1c.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)
11g.112016793A>CCA382590497DIXDC1c.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)
11g.112016793A>GCA382590499DIXDC1c.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)
11g.112016793A>TCA382590501DIXDC1c.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)
11g.112016794G>ACA476785656DIXDC1c.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=)
11g.112016794G>CCA382590504DIXDC1c.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)
11g.112016794G>TCA382590505DIXDC1c.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)
11g.112016795A=CA2000524074DIXDC1c.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=)
11g.112016795A>CCA476785660DIXDC1c.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=)
11g.112016795A>GCA382590507DIXDC1c.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)
11g.112016795A>TCA6276432DIXDC1c.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
11g.112016796G>ACA382590509DIXDC1c.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)
11g.112016796G>CCA382590512DIXDC1c.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
11g.112016796G=CA2000524075DIXDC1c.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=)
11g.112016796G>TCA6276433DIXDC1c.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
11g.112016797G>ACA382590516DIXDC1c.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
11g.112016797G>CCA382590518DIXDC1c.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)
11g.112016797G>TCA382590521DIXDC1c.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)
11g.112016798T>ACA382590524DIXDC1c.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)
11g.112016798T>CCA382590533DIXDC1c.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
11g.112016798T>GCA382590530DIXDC1c.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)

Number of alleles fetched