Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127672099C>ACA374935949STXBP1c.970C>A (p.Gln324Lys)
c.1012C>A (p.Gln338Lys)
c.*654C>A (n.*654C>A)
c.*1876C>A (n.*1876C>A)
c.954C>A
n.848C>A
c.1003C>A (p.Gln335Lys)
c.904C>A (p.Gln302Lys)
9g.127672099C=CA1879916850STXBP1c.970C= (p.Gln324=)
c.1012C= (p.Gln338=)
c.*654C= (n.*654C=)
c.*1876C= (n.*1876C=)
c.954C=
n.848C=
c.1003C= (p.Gln335=)
c.904C= (p.Gln302=)
9g.127672099C>GCA374935950STXBP1c.970C>G (p.Gln324Glu)
c.1012C>G (p.Gln338Glu)
c.*654C>G (n.*654C>G)
c.*1876C>G (n.*1876C>G)
c.954C>G
n.848C>G
c.1003C>G (p.Gln335Glu)
c.904C>G (p.Gln302Glu)
9g.127672099C>TCA16042633STXBP1c.970C>T (p.Gln324Ter)
c.1012C>T (p.Gln338Ter)
c.*654C>T (n.*654C>T)
c.*1876C>T (n.*1876C>T)
c.954C>T
n.848C>T
c.1003C>T (p.Gln335Ter)
c.904C>T (p.Gln302Ter)
ClinVar dbSNP
9g.127672100A=CA1879916851STXBP1c.971A= (p.Gln324=)
c.1013A= (p.Gln338=)
c.*655A= (n.*655A=)
c.*1877A= (n.*1877A=)
c.955A=
n.849A=
c.1004A= (p.Gln335=)
c.905A= (p.Gln302=)
9g.127672100A>CCA374935952STXBP1c.971A>C (p.Gln324Pro)
c.1013A>C (p.Gln338Pro)
c.*655A>C (n.*655A>C)
c.*1877A>C (n.*1877A>C)
c.955A>C
n.849A>C
c.1004A>C (p.Gln335Pro)
c.905A>C (p.Gln302Pro)
9g.127672100A>GCA374935954STXBP1c.971A>G (p.Gln324Arg)
c.1013A>G (p.Gln338Arg)
c.*655A>G (n.*655A>G)
c.*1877A>G (n.*1877A>G)
c.955A>G
n.849A>G
c.1004A>G (p.Gln335Arg)
c.905A>G (p.Gln302Arg)
dbSNP gnomAD v2 gnomAD v4
9g.127672100A>TCA374935955STXBP1c.971A>T (p.Gln324Leu)
c.1013A>T (p.Gln338Leu)
c.*655A>T (n.*655A>T)
c.*1877A>T (n.*1877A>T)
c.955A>T
n.849A>T
c.1004A>T (p.Gln335Leu)
c.905A>T (p.Gln302Leu)
9g.127672101G>ACA467229185STXBP1c.972G>A (p.Gln324=)
c.1014G>A (p.Gln338=)
c.*656G>A (n.*656G>A)
c.*1878G>A (n.*1878G>A)
c.956G>A
n.850G>A
c.1005G>A (p.Gln335=)
c.906G>A (p.Gln302=)
gnomAD v4
9g.127672101G>CCA374935957STXBP1c.972G>C (p.Gln324His)
c.1014G>C (p.Gln338His)
c.*656G>C (n.*656G>C)
c.*1878G>C (n.*1878G>C)
c.956G>C
n.850G>C
c.1005G>C (p.Gln335His)
c.906G>C (p.Gln302His)
9g.127672101G>TCA374935958STXBP1c.972G>T (p.Gln324His)
c.1014G>T (p.Gln338His)
c.*656G>T (n.*656G>T)
c.*1878G>T (n.*1878G>T)
c.956G>T
n.850G>T
c.1005G>T (p.Gln335His)
c.906G>T (p.Gln302His)
9g.127672101_127672102delinsGACA1879916852STXBP1c.972_973delinsGA (p.Gln324=)
c.1014_1015delinsGA (p.Gln338=)
c.*656_*657delinsGA (n.*656_*657delinsGA)
c.*1878_*1879delinsGA (n.*1878_*1879delinsGA)
c.956_957delinsGA
n.850_851delinsGA
c.1005_1006delinsGA (p.Gln335=)
c.906_907delinsGA (p.Gln302=)
9g.127672102A>CCA374935960STXBP1c.973A>C (p.Lys325Gln)
c.1015A>C (p.Lys339Gln)
c.*657A>C (n.*657A>C)
c.*1879A>C (n.*1879A>C)
c.957A>C
n.851A>C
c.1006A>C (p.Lys336Gln)
c.907A>C (p.Lys303Gln)
9g.127672102A>GCA374935961STXBP1c.973A>G (p.Lys325Glu)
c.1015A>G (p.Lys339Glu)
c.*657A>G (n.*657A>G)
c.*1879A>G (n.*1879A>G)
c.957A>G
n.851A>G
c.1006A>G (p.Lys336Glu)
c.907A>G (p.Lys303Glu)
9g.127672102A>TCA374935962STXBP1c.973A>T (p.Lys325Ter)
c.1015A>T (p.Lys339Ter)
c.*657A>T (n.*657A>T)
c.*1879A>T (n.*1879A>T)
c.957A>T
n.851A>T
c.1006A>T (p.Lys336Ter)
c.907A>T (p.Lys303Ter)
9g.127672104delCA1139661191STXBP1c.975del (p.Glu326SerfsTer16)
c.1017del (p.Glu340SerfsTer16)
c.*659del (n.*659del)
c.*1881del (n.*1881del)
c.959del
n.853del
c.1008del (p.Glu337SerfsTer16)
c.909del (p.Glu304SerfsTer16)
ClinVar dbSNP
9g.127672103A>CCA374935963STXBP1c.974A>C (p.Lys325Thr)
c.1016A>C (p.Lys339Thr)
c.*658A>C (n.*658A>C)
c.*1880A>C (n.*1880A>C)
c.958A>C
n.852A>C
c.1007A>C (p.Lys336Thr)
c.908A>C (p.Lys303Thr)
9g.127672103A>GCA374935967STXBP1c.974A>G (p.Lys325Arg)
c.1016A>G (p.Lys339Arg)
c.*658A>G (n.*658A>G)
c.*1880A>G (n.*1880A>G)
c.958A>G
n.852A>G
c.1007A>G (p.Lys336Arg)
c.908A>G (p.Lys303Arg)
9g.127672103A>TCA374935965STXBP1c.974A>T (p.Lys325Ile)
c.1016A>T (p.Lys339Ile)
c.*658A>T (n.*658A>T)
c.*1880A>T (n.*1880A>T)
c.958A>T
n.852A>T
c.1007A>T (p.Lys336Ile)
c.908A>T (p.Lys303Ile)
9g.127672104A=CA1879916853STXBP1c.975A= (p.Lys325=)
c.1017A= (p.Lys339=)
c.*659A= (n.*659A=)
c.*1881A= (n.*1881A=)
c.959A=
n.853A=
c.1008A= (p.Lys336=)
c.909A= (p.Lys303=)
9g.127672104A>CCA374935968STXBP1c.975A>C (p.Lys325Asn)
c.1017A>C (p.Lys339Asn)
c.*659A>C (n.*659A>C)
c.*1881A>C (n.*1881A>C)
c.959A>C
n.853A>C
c.1008A>C (p.Lys336Asn)
c.909A>C (p.Lys303Asn)
9g.127672104A>GCA467229201STXBP1c.975A>G (p.Lys325=)
c.1017A>G (p.Lys339=)
c.*659A>G (n.*659A>G)
c.*1881A>G (n.*1881A>G)
c.959A>G
n.853A>G
c.1008A>G (p.Lys336=)
c.909A>G (p.Lys303=)
ClinVar dbSNP
9g.127672104A>TCA374935970STXBP1c.975A>T (p.Lys325Asn)
c.1017A>T (p.Lys339Asn)
c.*659A>T (n.*659A>T)
c.*1881A>T (n.*1881A>T)
c.959A>T
n.853A>T
c.1008A>T (p.Lys336Asn)
c.909A>T (p.Lys303Asn)
9g.127672106_127672107delCA2695211370STXBP1c.977_978del (p.Glu326AlafsTer12)
c.1019_1020del (p.Glu340AlafsTer12)
c.*661_*662del (n.*661_*662del)
c.*1883_*1884del (n.*1883_*1884del)
c.961_962del
n.855_856del
c.1010_1011del (p.Glu337AlafsTer12)
c.911_912del (p.Glu304AlafsTer12)
9g.127672105G>ACA374935972STXBP1c.976G>A (p.Glu326Lys)
c.1018G>A (p.Glu340Lys)
c.*660G>A (n.*660G>A)
c.*1882G>A (n.*1882G>A)
c.960G>A
n.854G>A
c.1009G>A (p.Glu337Lys)
c.910G>A (p.Glu304Lys)
9g.127672105G>CCA374935974STXBP1c.976G>C (p.Glu326Gln)
c.1018G>C (p.Glu340Gln)
c.*660G>C (n.*660G>C)
c.*1882G>C (n.*1882G>C)
c.960G>C
n.854G>C
c.1009G>C (p.Glu337Gln)
c.910G>C (p.Glu304Gln)
9g.127672105G>TCA374935975STXBP1c.976G>T (p.Glu326Ter)
c.1018G>T (p.Glu340Ter)
c.*660G>T (n.*660G>T)
c.*1882G>T (n.*1882G>T)
c.960G>T
n.854G>T
c.1009G>T (p.Glu337Ter)
c.910G>T (p.Glu304Ter)
9g.127672106A>CCA374935976STXBP1c.977A>C (p.Glu326Ala)
c.1019A>C (p.Glu340Ala)
c.*661A>C (n.*661A>C)
c.*1883A>C (n.*1883A>C)
c.961A>C
n.855A>C
c.1010A>C (p.Glu337Ala)
c.911A>C (p.Glu304Ala)
9g.127672106A>GCA374935978STXBP1c.977A>G (p.Glu326Gly)
c.1019A>G (p.Glu340Gly)
c.*661A>G (n.*661A>G)
c.*1883A>G (n.*1883A>G)
c.961A>G
n.855A>G
c.1010A>G (p.Glu337Gly)
c.911A>G (p.Glu304Gly)
9g.127672106A>TCA374935979STXBP1c.977A>T (p.Glu326Val)
c.1019A>T (p.Glu340Val)
c.*661A>T (n.*661A>T)
c.*1883A>T (n.*1883A>T)
c.961A>T
n.855A>T
c.1010A>T (p.Glu337Val)
c.911A>T (p.Glu304Val)
9g.127672107G>ACA467229215STXBP1c.978G>A (p.Glu326=)
c.1020G>A (p.Glu340=)
c.*662G>A (n.*662G>A)
c.*1884G>A (n.*1884G>A)
c.962G>A
n.856G>A
c.1011G>A (p.Glu337=)
c.912G>A (p.Glu304=)
gnomAD v4
9g.127672107G>CCA374935981STXBP1c.978G>C (p.Glu326Asp)
c.1020G>C (p.Glu340Asp)
c.*662G>C (n.*662G>C)
c.*1884G>C (n.*1884G>C)
c.962G>C
n.856G>C
c.1011G>C (p.Glu337Asp)
c.912G>C (p.Glu304Asp)
9g.127672107G>TCA374935983STXBP1c.978G>T (p.Glu326Asp)
c.1020G>T (p.Glu340Asp)
c.*662G>T (n.*662G>T)
c.*1884G>T (n.*1884G>T)
c.962G>T
n.856G>T
c.1011G>T (p.Glu337Asp)
c.912G>T (p.Glu304Asp)
9g.127672108C>ACA374935988STXBP1c.979C>A (p.Leu327Ile)
c.1021C>A (p.Leu341Ile)
c.*663C>A (n.*663C>A)
c.*1885C>A (n.*1885C>A)
c.963C>A
n.857C>A
c.1012C>A (p.Leu338Ile)
c.913C>A (p.Leu305Ile)
9g.127672108C>GCA374935986STXBP1c.979C>G (p.Leu327Val)
c.1021C>G (p.Leu341Val)
c.*663C>G (n.*663C>G)
c.*1885C>G (n.*1885C>G)
c.963C>G
n.857C>G
c.1012C>G (p.Leu338Val)
c.913C>G (p.Leu305Val)
9g.127672108C>TCA374935984STXBP1c.979C>T (p.Leu327Phe)
c.1021C>T (p.Leu341Phe)
c.*663C>T (n.*663C>T)
c.*1885C>T (n.*1885C>T)
c.963C>T
n.857C>T
c.1012C>T (p.Leu338Phe)
c.913C>T (p.Leu305Phe)
9g.127672109T>ACA374935990STXBP1c.980T>A (p.Leu327His)
c.1022T>A (p.Leu341His)
c.*664T>A (n.*664T>A)
c.*1886T>A (n.*1886T>A)
c.964T>A
n.858T>A
c.1013T>A (p.Leu338His)
c.914T>A (p.Leu305His)
9g.127672109T>CCA374935992STXBP1c.980T>C (p.Leu327Pro)
c.1022T>C (p.Leu341Pro)
c.*664T>C (n.*664T>C)
c.*1886T>C (n.*1886T>C)
c.964T>C
n.858T>C
c.1013T>C (p.Leu338Pro)
c.914T>C (p.Leu305Pro)
9g.127672109T>GCA374935991STXBP1c.980T>G (p.Leu327Arg)
c.1022T>G (p.Leu341Arg)
c.*664T>G (n.*664T>G)
c.*1886T>G (n.*1886T>G)
c.964T>G
n.858T>G
c.1013T>G (p.Leu338Arg)
c.914T>G (p.Leu305Arg)
9g.127672110C>ACA467229226STXBP1c.981C>A (p.Leu327=)
c.1023C>A (p.Leu341=)
c.*665C>A (n.*665C>A)
c.*1887C>A (n.*1887C>A)
c.965C>A
n.859C>A
c.1014C>A (p.Leu338=)
c.915C>A (p.Leu305=)
9g.127672110C>GCA467229228STXBP1c.981C>G (p.Leu327=)
c.1023C>G (p.Leu341=)
c.*665C>G (n.*665C>G)
c.*1887C>G (n.*1887C>G)
c.965C>G
n.859C>G
c.1014C>G (p.Leu338=)
c.915C>G (p.Leu305=)
9g.127672110C>TCA467229230STXBP1c.981C>T (p.Leu327=)
c.1023C>T (p.Leu341=)
c.*665C>T (n.*665C>T)
c.*1887C>T (n.*1887C>T)
c.965C>T
n.859C>T
c.1014C>T (p.Leu338=)
c.915C>T (p.Leu305=)
9g.127672111A>CCA374935994STXBP1c.982A>C (p.Ser328Arg)
c.1024A>C (p.Ser342Arg)
c.*666A>C (n.*666A>C)
c.*1888A>C (n.*1888A>C)
c.966A>C
n.860A>C
c.1015A>C (p.Ser339Arg)
c.916A>C (p.Ser306Arg)
9g.127672111A>GCA374935996STXBP1c.982A>G (p.Ser328Gly)
c.1024A>G (p.Ser342Gly)
c.*666A>G (n.*666A>G)
c.*1888A>G (n.*1888A>G)
c.966A>G
n.860A>G
c.1015A>G (p.Ser339Gly)
c.916A>G (p.Ser306Gly)
9g.127672111A>TCA374935997STXBP1c.982A>T (p.Ser328Cys)
c.1024A>T (p.Ser342Cys)
c.*666A>T (n.*666A>T)
c.*1888A>T (n.*1888A>T)
c.966A>T
n.860A>T
c.1015A>T (p.Ser339Cys)
c.916A>T (p.Ser306Cys)
9g.127672112G>ACA5248441STXBP1c.983G>A (p.Ser328Asn)
c.1025G>A (p.Ser342Asn)
c.*667G>A (n.*667G>A)
c.*1889G>A (n.*1889G>A)
c.967G>A
n.861G>A
c.1016G>A (p.Ser339Asn)
c.917G>A (p.Ser306Asn)
dbSNP ExAC gnomAD v2
9g.127672112G>CCA374935999STXBP1c.983G>C (p.Ser328Thr)
c.1025G>C (p.Ser342Thr)
c.*667G>C (n.*667G>C)
c.*1889G>C (n.*1889G>C)
c.967G>C
n.861G>C
c.1016G>C (p.Ser339Thr)
c.917G>C (p.Ser306Thr)
9g.127672112G=CA1879916854STXBP1c.983G= (p.Ser328=)
c.1025G= (p.Ser342=)
c.*667G= (n.*667G=)
c.*1889G= (n.*1889G=)
c.967G=
n.861G=
c.1016G= (p.Ser339=)
c.917G= (p.Ser306=)
9g.127672112G>TCA374936000STXBP1c.983G>T (p.Ser328Ile)
c.1025G>T (p.Ser342Ile)
c.*667G>T (n.*667G>T)
c.*1889G>T (n.*1889G>T)
c.967G>T
n.861G>T
c.1016G>T (p.Ser339Ile)
c.917G>T (p.Ser306Ile)
9g.127672113C>ACA374936002STXBP1c.984C>A (p.Ser328Arg)
c.1026C>A (p.Ser342Arg)
c.*668C>A (n.*668C>A)
c.*1890C>A (n.*1890C>A)
c.968C>A
n.862C>A
c.1017C>A (p.Ser339Arg)
c.918C>A (p.Ser306Arg)

Number of alleles fetched