Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127672099C>A | CA374935949 | STXBP1 | c.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) | |
9 | g.127672099C= | CA1879916850 | STXBP1 | c.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=) | |
9 | g.127672099C>G | CA374935950 | STXBP1 | c.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) | |
9 | g.127672099C>T | CA16042633 | STXBP1 | c.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 |
9 | g.127672100A= | CA1879916851 | STXBP1 | c.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=) | |
9 | g.127672100A>C | CA374935952 | STXBP1 | c.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) | |
9 | g.127672100A>G | CA374935954 | STXBP1 | c.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 |
9 | g.127672100A>T | CA374935955 | STXBP1 | c.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) | |
9 | g.127672101G>A | CA467229185 | STXBP1 | c.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 |
9 | g.127672101G>C | CA374935957 | STXBP1 | c.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) | |
9 | g.127672101G>T | CA374935958 | STXBP1 | c.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) | |
9 | g.127672101_127672102delinsGA | CA1879916852 | STXBP1 | c.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=) | |
9 | g.127672102A>C | CA374935960 | STXBP1 | c.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) | |
9 | g.127672102A>G | CA374935961 | STXBP1 | c.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) | |
9 | g.127672102A>T | CA374935962 | STXBP1 | c.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) | |
9 | g.127672104del | CA1139661191 | STXBP1 | c.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 |
9 | g.127672103A>C | CA374935963 | STXBP1 | c.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) | |
9 | g.127672103A>G | CA374935967 | STXBP1 | c.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) | |
9 | g.127672103A>T | CA374935965 | STXBP1 | c.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) | |
9 | g.127672104A= | CA1879916853 | STXBP1 | c.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=) | |
9 | g.127672104A>C | CA374935968 | STXBP1 | c.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) | |
9 | g.127672104A>G | CA467229201 | STXBP1 | c.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 |
9 | g.127672104A>T | CA374935970 | STXBP1 | c.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) | |
9 | g.127672106_127672107del | CA2695211370 | STXBP1 | c.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) | |
9 | g.127672105G>A | CA374935972 | STXBP1 | c.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) | |
9 | g.127672105G>C | CA374935974 | STXBP1 | c.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) | |
9 | g.127672105G>T | CA374935975 | STXBP1 | c.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) | |
9 | g.127672106A>C | CA374935976 | STXBP1 | c.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) | |
9 | g.127672106A>G | CA374935978 | STXBP1 | c.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) | |
9 | g.127672106A>T | CA374935979 | STXBP1 | c.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) | |
9 | g.127672107G>A | CA467229215 | STXBP1 | c.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 |
9 | g.127672107G>C | CA374935981 | STXBP1 | c.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) | |
9 | g.127672107G>T | CA374935983 | STXBP1 | c.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) | |
9 | g.127672108C>A | CA374935988 | STXBP1 | c.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) | |
9 | g.127672108C>G | CA374935986 | STXBP1 | c.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) | |
9 | g.127672108C>T | CA374935984 | STXBP1 | c.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) | |
9 | g.127672109T>A | CA374935990 | STXBP1 | c.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) | |
9 | g.127672109T>C | CA374935992 | STXBP1 | c.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) | |
9 | g.127672109T>G | CA374935991 | STXBP1 | c.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) | |
9 | g.127672110C>A | CA467229226 | STXBP1 | c.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=) | |
9 | g.127672110C>G | CA467229228 | STXBP1 | c.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=) | |
9 | g.127672110C>T | CA467229230 | STXBP1 | c.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=) | |
9 | g.127672111A>C | CA374935994 | STXBP1 | c.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) | |
9 | g.127672111A>G | CA374935996 | STXBP1 | c.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) | |
9 | g.127672111A>T | CA374935997 | STXBP1 | c.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) | |
9 | g.127672112G>A | CA5248441 | STXBP1 | c.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 |
9 | g.127672112G>C | CA374935999 | STXBP1 | c.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) | |
9 | g.127672112G= | CA1879916854 | STXBP1 | c.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=) | |
9 | g.127672112G>T | CA374936000 | STXBP1 | c.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) | |
9 | g.127672113C>A | CA374936002 | STXBP1 | c.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) |