Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.112016690G>ACA382589773DIXDC1c.1757-1G>A (n.1757-1G>A)
n.753-1G>A
c.1124-1G>A (n.1124-1G>A)
n.1110-1G>A
c.1754-1G>A (n.1754-1G>A)
c.875-1G>A (n.875-1G>A)
c.869-1G>A (n.869-1G>A)
c.1649-1G>A (n.1649-1G>A)
c.1646-1G>A (n.1646-1G>A)
11g.112016690G>CCA382589775DIXDC1c.1757-1G>C (n.1757-1G>C)
n.753-1G>C
c.1124-1G>C (n.1124-1G>C)
n.1110-1G>C
c.1754-1G>C (n.1754-1G>C)
c.875-1G>C (n.875-1G>C)
c.869-1G>C (n.869-1G>C)
c.1649-1G>C (n.1649-1G>C)
c.1646-1G>C (n.1646-1G>C)
11g.112016690G>TCA382589778DIXDC1c.1757-1G>T (n.1757-1G>T)
n.753-1G>T
c.1124-1G>T (n.1124-1G>T)
n.1110-1G>T
c.1754-1G>T (n.1754-1G>T)
c.875-1G>T (n.875-1G>T)
c.869-1G>T (n.869-1G>T)
c.1649-1G>T (n.1649-1G>T)
c.1646-1G>T (n.1646-1G>T)
 gnomAD v4
11g.112016691A>CCA382589781DIXDC1c.1757A>C (p.Lys586Thr)
n.753A>C
c.1124A>C (p.Lys375Thr)
n.1110A>C
c.1754A>C (p.Lys585Thr)
c.875A>C (p.Lys292Thr)
c.869A>C (p.Lys290Thr)
c.1649A>C (p.Lys550Thr)
c.1646A>C (p.Lys549Thr)
11g.112016691A>GCA382589785DIXDC1c.1757A>G (p.Lys586Arg)
n.753A>G
c.1124A>G (p.Lys375Arg)
n.1110A>G
c.1754A>G (p.Lys585Arg)
c.875A>G (p.Lys292Arg)
c.869A>G (p.Lys290Arg)
c.1649A>G (p.Lys550Arg)
c.1646A>G (p.Lys549Arg)
 gnomAD v4
11g.112016691A>TCA382589788DIXDC1c.1757A>T (p.Lys586Met)
n.753A>T
c.1124A>T (p.Lys375Met)
n.1110A>T
c.1754A>T (p.Lys585Met)
c.875A>T (p.Lys292Met)
c.869A>T (p.Lys290Met)
c.1649A>T (p.Lys550Met)
c.1646A>T (p.Lys549Met)
11g.112016692G>ACA476785546DIXDC1c.1758G>A (p.Lys586=)
n.754G>A
c.1125G>A (p.Lys375=)
n.1111G>A
c.1755G>A (p.Lys585=)
c.876G>A (p.Lys292=)
c.870G>A (p.Lys290=)
c.1650G>A (p.Lys550=)
c.1647G>A (p.Lys549=)
11g.112016692G>CCA382589792DIXDC1c.1758G>C (p.Lys586Asn)
n.754G>C
c.1125G>C (p.Lys375Asn)
n.1111G>C
c.1755G>C (p.Lys585Asn)
c.876G>C (p.Lys292Asn)
c.870G>C (p.Lys290Asn)
c.1650G>C (p.Lys550Asn)
c.1647G>C (p.Lys549Asn)
11g.112016692G>TCA382589795DIXDC1c.1758G>T (p.Lys586Asn)
n.754G>T
c.1125G>T (p.Lys375Asn)
n.1111G>T
c.1755G>T (p.Lys585Asn)
c.876G>T (p.Lys292Asn)
c.870G>T (p.Lys290Asn)
c.1650G>T (p.Lys550Asn)
c.1647G>T (p.Lys549Asn)
11g.112016693T>ACA382589798DIXDC1c.1759T>A (p.Leu587Met)
n.755T>A
c.1126T>A (p.Leu376Met)
n.1112T>A
c.1756T>A (p.Leu586Met)
c.877T>A (p.Leu293Met)
c.871T>A (p.Leu291Met)
c.1651T>A (p.Leu551Met)
c.1648T>A (p.Leu550Met)
11g.112016693T>CCA228536502DIXDC1c.1759T>C (p.Leu587=)
n.755T>C
c.1126T>C (p.Leu376=)
n.1112T>C
c.1756T>C (p.Leu586=)
c.877T>C (p.Leu293=)
c.871T>C (p.Leu291=)
c.1651T>C (p.Leu551=)
c.1648T>C (p.Leu550=)
 dbSNP gnomAD v2 gnomAD v4
11g.112016693T>GCA382589802DIXDC1c.1759T>G (p.Leu587Val)
n.755T>G
c.1126T>G (p.Leu376Val)
n.1112T>G
c.1756T>G (p.Leu586Val)
c.877T>G (p.Leu293Val)
c.871T>G (p.Leu291Val)
c.1651T>G (p.Leu551Val)
c.1648T>G (p.Leu550Val)
 COSMIC
11g.112016693T=CA2000524038DIXDC1c.1759T= (p.Leu587=)
n.755T=
c.1126T= (p.Leu376=)
n.1112T=
c.1756T= (p.Leu586=)
c.877T= (p.Leu293=)
c.871T= (p.Leu291=)
c.1651T= (p.Leu551=)
c.1648T= (p.Leu550=)
11g.112016694T>ACA382589805DIXDC1c.1760T>A (p.Leu587Ter)
n.756T>A
c.1127T>A (p.Leu376Ter)
n.1113T>A
c.1757T>A (p.Leu586Ter)
c.878T>A (p.Leu293Ter)
c.872T>A (p.Leu291Ter)
c.1652T>A (p.Leu551Ter)
c.1649T>A (p.Leu550Ter)
11g.112016694T>CCA382589815DIXDC1c.1760T>C (p.Leu587Ser)
n.756T>C
c.1127T>C (p.Leu376Ser)
n.1113T>C
c.1757T>C (p.Leu586Ser)
c.878T>C (p.Leu293Ser)
c.872T>C (p.Leu291Ser)
c.1652T>C (p.Leu551Ser)
c.1649T>C (p.Leu550Ser)
11g.112016694T>GCA382589819DIXDC1c.1760T>G (p.Leu587Trp)
n.756T>G
c.1127T>G (p.Leu376Trp)
n.1113T>G
c.1757T>G (p.Leu586Trp)
c.878T>G (p.Leu293Trp)
c.872T>G (p.Leu291Trp)
c.1652T>G (p.Leu551Trp)
c.1649T>G (p.Leu550Trp)
11g.112016695G>ACA476785547DIXDC1c.1761G>A (p.Leu587=)
n.757G>A
c.1128G>A (p.Leu376=)
n.1114G>A
c.1758G>A (p.Leu586=)
c.879G>A (p.Leu293=)
c.873G>A (p.Leu291=)
c.1653G>A (p.Leu551=)
c.1650G>A (p.Leu550=)
11g.112016695G>CCA382589827DIXDC1c.1761G>C (p.Leu587Phe)
n.757G>C
c.1128G>C (p.Leu376Phe)
n.1114G>C
c.1758G>C (p.Leu586Phe)
c.879G>C (p.Leu293Phe)
c.873G>C (p.Leu291Phe)
c.1653G>C (p.Leu551Phe)
c.1650G>C (p.Leu550Phe)
11g.112016695G>TCA382589824DIXDC1c.1761G>T (p.Leu587Phe)
n.757G>T
c.1128G>T (p.Leu376Phe)
n.1114G>T
c.1758G>T (p.Leu586Phe)
c.879G>T (p.Leu293Phe)
c.873G>T (p.Leu291Phe)
c.1653G>T (p.Leu551Phe)
c.1650G>T (p.Leu550Phe)
11g.112016696C>ACA382589831DIXDC1c.1762C>A (p.Pro588Thr)
n.758C>A
c.1129C>A (p.Pro377Thr)
n.1115C>A
c.1759C>A (p.Pro587Thr)
c.880C>A (p.Pro294Thr)
c.874C>A (p.Pro292Thr)
c.1654C>A (p.Pro552Thr)
c.1651C>A (p.Pro551Thr)
11g.112016696C>GCA382589835DIXDC1c.1762C>G (p.Pro588Ala)
n.758C>G
c.1129C>G (p.Pro377Ala)
n.1115C>G
c.1759C>G (p.Pro587Ala)
c.880C>G (p.Pro294Ala)
c.874C>G (p.Pro292Ala)
c.1654C>G (p.Pro552Ala)
c.1651C>G (p.Pro551Ala)
11g.112016696C>TCA382589832DIXDC1c.1762C>T (p.Pro588Ser)
n.758C>T
c.1129C>T (p.Pro377Ser)
n.1115C>T
c.1759C>T (p.Pro587Ser)
c.880C>T (p.Pro294Ser)
c.874C>T (p.Pro292Ser)
c.1654C>T (p.Pro552Ser)
c.1651C>T (p.Pro551Ser)
 gnomAD v4
11g.112016697C>ACA382589846DIXDC1c.1763C>A (p.Pro588His)
n.759C>A
c.1130C>A (p.Pro377His)
n.1116C>A
c.1760C>A (p.Pro587His)
c.881C>A (p.Pro294His)
c.875C>A (p.Pro292His)
c.1655C>A (p.Pro552His)
c.1652C>A (p.Pro551His)
 gnomAD v4
11g.112016697C=CA2000524039DIXDC1c.1763C= (p.Pro588=)
n.759C=
c.1130C= (p.Pro377=)
n.1116C=
c.1760C= (p.Pro587=)
c.881C= (p.Pro294=)
c.875C= (p.Pro292=)
c.1655C= (p.Pro552=)
c.1652C= (p.Pro551=)
11g.112016697C>GCA382589848DIXDC1c.1763C>G (p.Pro588Arg)
n.759C>G
c.1130C>G (p.Pro377Arg)
n.1116C>G
c.1760C>G (p.Pro587Arg)
c.881C>G (p.Pro294Arg)
c.875C>G (p.Pro292Arg)
c.1655C>G (p.Pro552Arg)
c.1652C>G (p.Pro551Arg)
11g.112016697C>TCA382589847DIXDC1c.1763C>T (p.Pro588Leu)
n.759C>T
c.1130C>T (p.Pro377Leu)
n.1116C>T
c.1760C>T (p.Pro587Leu)
c.881C>T (p.Pro294Leu)
c.875C>T (p.Pro292Leu)
c.1655C>T (p.Pro552Leu)
c.1652C>T (p.Pro551Leu)
 dbSNP
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.112016698T>ACA476785548DIXDC1c.1764T>A (p.Pro588=)
n.760T>A
c.1131T>A (p.Pro377=)
n.1117T>A
c.1761T>A (p.Pro587=)
c.882T>A (p.Pro294=)
c.876T>A (p.Pro292=)
c.1656T>A (p.Pro552=)
c.1653T>A (p.Pro551=)
11g.112016698T>CCA476785549DIXDC1c.1764T>C (p.Pro588=)
n.760T>C
c.1131T>C (p.Pro377=)
n.1117T>C
c.1761T>C (p.Pro587=)
c.882T>C (p.Pro294=)
c.876T>C (p.Pro292=)
c.1656T>C (p.Pro552=)
c.1653T>C (p.Pro551=)
11g.112016698T>GCA476785550DIXDC1c.1764T>G (p.Pro588=)
n.760T>G
c.1131T>G (p.Pro377=)
n.1117T>G
c.1761T>G (p.Pro587=)
c.882T>G (p.Pro294=)
c.876T>G (p.Pro292=)
c.1656T>G (p.Pro552=)
c.1653T>G (p.Pro551=)
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=)

Number of alleles fetched