| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127663214T>A | CA374932891 | STXBP1 | c.397T>A (p.Leu133Met) c.439T>A (p.Leu147Met) c.*81T>A (n.*81T>A) c.*1303T>A (n.*1303T>A) c.381T>A c.83T>A n.275T>A c.430T>A (p.Leu144Met) | |
| 9 | g.127663214T>C | CA467222531 | STXBP1 | c.397T>C (p.Leu133=) c.439T>C (p.Leu147=) c.*81T>C (n.*81T>C) c.*1303T>C (n.*1303T>C) c.381T>C c.83T>C n.275T>C c.430T>C (p.Leu144=) | gnomAD v4 |
| 9 | g.127663214T>G | CA374932892 | STXBP1 | c.397T>G (p.Leu133Val) c.439T>G (p.Leu147Val) c.*81T>G (n.*81T>G) c.*1303T>G (n.*1303T>G) c.381T>G c.83T>G n.275T>G c.430T>G (p.Leu144Val) | dbSNP gnomAD v4 |
| 9 | g.127663214T= | CA1879908316 | STXBP1 | c.397T= (p.Leu133=) c.439T= (p.Leu147=) c.*81T= (n.*81T=) c.*1303T= (n.*1303T=) c.381T= c.83T= n.275T= c.430T= (p.Leu144=) | |
| 9 | g.127663215T>A | CA374932893 | STXBP1 | c.398T>A (p.Leu133Ter) c.440T>A (p.Leu147Ter) c.*82T>A (n.*82T>A) c.*1304T>A (n.*1304T>A) c.382T>A c.84T>A n.276T>A c.431T>A (p.Leu144Ter) | |
| 9 | g.127663215T>C | CA374932894 | STXBP1 | c.398T>C (p.Leu133Ser) c.440T>C (p.Leu147Ser) c.*82T>C (n.*82T>C) c.*1304T>C (n.*1304T>C) c.382T>C c.84T>C n.276T>C c.431T>C (p.Leu144Ser) | |
| 9 | g.127663215T>G | CA374932895 | STXBP1 | c.398T>G (p.Leu133Trp) c.440T>G (p.Leu147Trp) c.*82T>G (n.*82T>G) c.*1304T>G (n.*1304T>G) c.382T>G c.84T>G n.276T>G c.431T>G (p.Leu144Trp) | |
| 9 | g.127663216G>A | CA467222541 | STXBP1 | c.399G>A (p.Leu133=) c.441G>A (p.Leu147=) c.*83G>A (n.*83G>A) c.*1305G>A (n.*1305G>A) c.383G>A c.85G>A n.277G>A c.432G>A (p.Leu144=) | |
| 9 | g.127663216G>C | CA374932896 | STXBP1 | c.399G>C (p.Leu133Phe) c.441G>C (p.Leu147Phe) c.*83G>C (n.*83G>C) c.*1305G>C (n.*1305G>C) c.383G>C c.85G>C n.277G>C c.432G>C (p.Leu144Phe) | |
| 9 | g.127663216G>T | CA374932897 | STXBP1 | c.399G>T (p.Leu133Phe) c.441G>T (p.Leu147Phe) c.*83G>T (n.*83G>T) c.*1305G>T (n.*1305G>T) c.383G>T c.85G>T n.277G>T c.432G>T (p.Leu144Phe) | |
| 9 | g.127663217G>A | CA374932898 | STXBP1 | c.400G>A (p.Asp134Asn) c.442G>A (p.Asp148Asn) c.*84G>A (n.*84G>A) c.*1306G>A (n.*1306G>A) c.384G>A c.86G>A n.278G>A c.433G>A (p.Asp145Asn) | COSMIC COSMIC |
| 9 | g.127663217G>C | CA374932899 | STXBP1 | c.400G>C (p.Asp134His) c.442G>C (p.Asp148His) c.*84G>C (n.*84G>C) c.*1306G>C (n.*1306G>C) c.384G>C c.86G>C n.278G>C c.433G>C (p.Asp145His) | |
| 9 | g.127663217G>T | CA374932900 | STXBP1 | c.400G>T (p.Asp134Tyr) c.442G>T (p.Asp148Tyr) c.*84G>T (n.*84G>T) c.*1306G>T (n.*1306G>T) c.384G>T c.86G>T n.278G>T c.433G>T (p.Asp145Tyr) | |
| 9 | g.127663218A>C | CA374932901 | STXBP1 | c.401A>C (p.Asp134Ala) c.443A>C (p.Asp148Ala) c.*85A>C (n.*85A>C) c.*1307A>C (n.*1307A>C) c.385A>C c.87A>C n.279A>C c.434A>C (p.Asp145Ala) | |
| 9 | g.127663218A>G | CA374932902 | STXBP1 | c.401A>G (p.Asp134Gly) c.443A>G (p.Asp148Gly) c.*85A>G (n.*85A>G) c.*1307A>G (n.*1307A>G) c.385A>G c.87A>G n.279A>G c.434A>G (p.Asp145Gly) | |
| 9 | g.127663218A>T | CA374932903 | STXBP1 | c.401A>T (p.Asp134Val) c.443A>T (p.Asp148Val) c.*85A>T (n.*85A>T) c.*1307A>T (n.*1307A>T) c.385A>T c.87A>T n.279A>T c.434A>T (p.Asp145Val) | |
| 9 | g.127663219del | CA2695211191 | STXBP1 | c.402del (p.Ser135LeufsTer16) c.444del (p.Ser149LeufsTer16) c.*86del (n.*86del) c.*1308del (n.*1308del) c.386del c.88del c.402del (p.Ser135LeufsTer?) n.280del c.435del (p.Ser146LeufsTer16) | |
| 9 | g.127663219C>A | CA374932904 | STXBP1 | c.402C>A (p.Asp134Glu) c.444C>A (p.Asp148Glu) c.*86C>A (n.*86C>A) c.*1308C>A (n.*1308C>A) c.386C>A c.88C>A n.280C>A c.435C>A (p.Asp145Glu) | dbSNP |
| 9 | g.127663219C= | CA1879908317 | STXBP1 | c.402C= (p.Asp134=) c.444C= (p.Asp148=) c.*86C= (n.*86C=) c.*1308C= (n.*1308C=) c.386C= c.88C= n.280C= c.435C= (p.Asp145=) | |
| 9 | g.127663219C>G | CA374932905 | STXBP1 | c.402C>G (p.Asp134Glu) c.444C>G (p.Asp148Glu) c.*86C>G (n.*86C>G) c.*1308C>G (n.*1308C>G) c.386C>G c.88C>G n.280C>G c.435C>G (p.Asp145Glu) | |
| 9 | g.127663219C>T | CA467222563 | STXBP1 | c.402C>T (p.Asp134=) c.444C>T (p.Asp148=) c.*86C>T (n.*86C>T) c.*1308C>T (n.*1308C>T) c.386C>T c.88C>T n.280C>T c.435C>T (p.Asp145=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127663220T>A | CA374932908 | STXBP1 | c.403T>A (p.Ser135Thr) c.445T>A (p.Ser149Thr) c.*87T>A (n.*87T>A) c.*1309T>A (n.*1309T>A) c.387T>A c.89T>A n.281T>A c.436T>A (p.Ser146Thr) | |
| 9 | g.127663220T>C | CA374932906 | STXBP1 | c.403T>C (p.Ser135Pro) c.445T>C (p.Ser149Pro) c.*87T>C (n.*87T>C) c.*1309T>C (n.*1309T>C) c.387T>C c.89T>C n.281T>C c.436T>C (p.Ser146Pro) | |
| 9 | g.127663220T>G | CA374932907 | STXBP1 | c.403T>G (p.Ser135Ala) c.445T>G (p.Ser149Ala) c.*87T>G (n.*87T>G) c.*1309T>G (n.*1309T>G) c.387T>G c.89T>G n.281T>G c.436T>G (p.Ser146Ala) | |
| 9 | g.127663221C>A | CA200263171 | STXBP1 | c.404C>A (p.Ser135Tyr) c.446C>A (p.Ser149Tyr) c.*88C>A (n.*88C>A) c.*1310C>A (n.*1310C>A) c.388C>A c.90C>A n.282C>A c.437C>A (p.Ser146Tyr) | ClinVar dbSNP |
| 9 | g.127663221C= | CA1879908318 | STXBP1 | c.404C= (p.Ser135=) c.446C= (p.Ser149=) c.*88C= (n.*88C=) c.*1310C= (n.*1310C=) c.388C= c.90C= n.282C= c.437C= (p.Ser146=) | |
| 9 | g.127663221C>G | CA374932909 | STXBP1 | c.404C>G (p.Ser135Cys) c.446C>G (p.Ser149Cys) c.*88C>G (n.*88C>G) c.*1310C>G (n.*1310C>G) c.388C>G c.90C>G n.282C>G c.437C>G (p.Ser146Cys) | |
| 9 | g.127663221C>T | CA374932910 | STXBP1 | c.404C>T (p.Ser135Phe) c.446C>T (p.Ser149Phe) c.*88C>T (n.*88C>T) c.*1310C>T (n.*1310C>T) c.388C>T c.90C>T n.282C>T c.437C>T (p.Ser146Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127663222T>A | CA467222590 | STXBP1 | c.405T>A (p.Ser135=) c.447T>A (p.Ser149=) c.*89T>A (n.*89T>A) c.*1311T>A (n.*1311T>A) c.389T>A c.91T>A n.283T>A c.438T>A (p.Ser146=) | |
| 9 | g.127663222T>C | CA467222585 | STXBP1 | c.405T>C (p.Ser135=) c.447T>C (p.Ser149=) c.*89T>C (n.*89T>C) c.*1311T>C (n.*1311T>C) c.389T>C c.91T>C n.283T>C c.438T>C (p.Ser146=) | |
| 9 | g.127663222T>G | CA467222579 | STXBP1 | c.405T>G (p.Ser135=) c.447T>G (p.Ser149=) c.*89T>G (n.*89T>G) c.*1311T>G (n.*1311T>G) c.389T>G c.91T>G n.283T>G c.438T>G (p.Ser146=) | |
| 9 | g.127663223G>A | CA374932911 | STXBP1 | c.406G>A (p.Ala136Thr) c.448G>A (p.Ala150Thr) c.*90G>A (n.*90G>A) c.*1312G>A (n.*1312G>A) c.390G>A c.92G>A n.284G>A c.439G>A (p.Ala147Thr) | |
| 9 | g.127663223G>C | CA374932912 | STXBP1 | c.406G>C (p.Ala136Pro) c.448G>C (p.Ala150Pro) c.*90G>C (n.*90G>C) c.*1312G>C (n.*1312G>C) c.390G>C c.92G>C n.284G>C c.439G>C (p.Ala147Pro) | |
| 9 | g.127663223G>T | CA374932913 | STXBP1 | c.406G>T (p.Ala136Ser) c.448G>T (p.Ala150Ser) c.*90G>T (n.*90G>T) c.*1312G>T (n.*1312G>T) c.390G>T c.92G>T n.284G>T c.439G>T (p.Ala147Ser) | |
| 9 | g.127663224C>A | CA374932914 | STXBP1 | c.407C>A (p.Ala136Asp) c.449C>A (p.Ala150Asp) c.*91C>A (n.*91C>A) c.*1313C>A (n.*1313C>A) c.391C>A c.93C>A n.285C>A c.440C>A (p.Ala147Asp) | |
| 9 | g.127663224C>G | CA374932915 | STXBP1 | c.407C>G (p.Ala136Gly) c.449C>G (p.Ala150Gly) c.*91C>G (n.*91C>G) c.*1313C>G (n.*1313C>G) c.391C>G c.93C>G n.285C>G c.440C>G (p.Ala147Gly) | |
| 9 | g.127663224C>T | CA374932916 | STXBP1 | c.407C>T (p.Ala136Val) c.449C>T (p.Ala150Val) c.*91C>T (n.*91C>T) c.*1313C>T (n.*1313C>T) c.391C>T c.93C>T n.285C>T c.440C>T (p.Ala147Val) | |
| 9 | g.127663226_127663229del | CA2580616306 | STXBP1 | c.409_412del (p.Asp137LeufsTer13) c.451_454del (p.Asp151LeufsTer13) c.*93_*96del (n.*93_*96del) c.*1315_*1318del (n.*1315_*1318del) c.393_396del c.95_98del c.409_412del (p.Asp137LeufsTer?) n.287_290del c.442_445del (p.Asp148LeufsTer13) | ClinVar |
| 9 | g.127663225T>A | CA467222615 | STXBP1 | c.408T>A (p.Ala136=) c.450T>A (p.Ala150=) c.*92T>A (n.*92T>A) c.*1314T>A (n.*1314T>A) c.392T>A c.94T>A n.286T>A c.441T>A (p.Ala147=) | |
| 9 | g.127663225T>C | CA467222618 | STXBP1 | c.408T>C (p.Ala136=) c.450T>C (p.Ala150=) c.*92T>C (n.*92T>C) c.*1314T>C (n.*1314T>C) c.392T>C c.94T>C n.286T>C c.441T>C (p.Ala147=) | |
| 9 | g.127663225T>G | CA467222620 | STXBP1 | c.408T>G (p.Ala136=) c.450T>G (p.Ala150=) c.*92T>G (n.*92T>G) c.*1314T>G (n.*1314T>G) c.392T>G c.94T>G n.286T>G c.441T>G (p.Ala147=) | |
| 9 | g.127663226G>A | CA374932917 | STXBP1 | c.409G>A (p.Asp137Asn) c.451G>A (p.Asp151Asn) c.*93G>A (n.*93G>A) c.*1315G>A (n.*1315G>A) c.393G>A c.95G>A n.287G>A c.442G>A (p.Asp148Asn) | ClinVar dbSNP |
| 9 | g.127663226G>C | CA374932918 | STXBP1 | c.409G>C (p.Asp137His) c.451G>C (p.Asp151His) c.*93G>C (n.*93G>C) c.*1315G>C (n.*1315G>C) c.393G>C c.95G>C n.287G>C c.442G>C (p.Asp148His) | |
| 9 | g.127663226G>T | CA374932919 | STXBP1 | c.409G>T (p.Asp137Tyr) c.451G>T (p.Asp151Tyr) c.*93G>T (n.*93G>T) c.*1315G>T (n.*1315G>T) c.393G>T c.95G>T n.287G>T c.442G>T (p.Asp148Tyr) | |
| 9 | g.127663227A>C | CA374932920 | STXBP1 | c.410A>C (p.Asp137Ala) c.452A>C (p.Asp151Ala) c.*94A>C (n.*94A>C) c.*1316A>C (n.*1316A>C) c.394A>C c.96A>C n.288A>C c.443A>C (p.Asp148Ala) | |
| 9 | g.127663227A>G | CA374932922 | STXBP1 | c.410A>G (p.Asp137Gly) c.452A>G (p.Asp151Gly) c.*94A>G (n.*94A>G) c.*1316A>G (n.*1316A>G) c.394A>G c.96A>G n.288A>G c.443A>G (p.Asp148Gly) | |
| 9 | g.127663227A>T | CA374932921 | STXBP1 | c.410A>T (p.Asp137Val) c.452A>T (p.Asp151Val) c.*94A>T (n.*94A>T) c.*1316A>T (n.*1316A>T) c.394A>T c.96A>T n.288A>T c.443A>T (p.Asp148Val) | |
| 9 | g.127663228C>A | CA374932923 | STXBP1 | c.411C>A (p.Asp137Glu) c.453C>A (p.Asp151Glu) c.*95C>A (n.*95C>A) c.*1317C>A (n.*1317C>A) c.395C>A c.97C>A n.289C>A c.444C>A (p.Asp148Glu) | |
| 9 | g.127663228C= | CA1879908319 | STXBP1 | c.411C= (p.Asp137=) c.453C= (p.Asp151=) c.*95C= (n.*95C=) c.*1317C= (n.*1317C=) c.395C= c.97C= n.289C= c.444C= (p.Asp148=) | |
| 9 | g.127663228C>G | CA374932924 | STXBP1 | c.411C>G (p.Asp137Glu) c.453C>G (p.Asp151Glu) c.*95C>G (n.*95C>G) c.*1317C>G (n.*1317C>G) c.395C>G c.97C>G n.289C>G c.444C>G (p.Asp148Glu) |