Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
9 | g.127663228C>T | CA467222640 | STXBP1 | c.411C>T (p.Asp137=) c.453C>T (p.Asp151=) c.*95C>T (n.*95C>T) c.*1317C>T (n.*1317C>T) c.395C>T c.97C>T n.289C>T c.444C>T (p.Asp148=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127663229T>A | CA374932925 | STXBP1 | c.412T>A (p.Ser138Thr) c.454T>A (p.Ser152Thr) c.*96T>A (n.*96T>A) c.*1318T>A (n.*1318T>A) c.396T>A c.98T>A n.290T>A c.445T>A (p.Ser149Thr) | |
9 | g.127663229T>C | CA374932926 | STXBP1 | c.412T>C (p.Ser138Pro) c.454T>C (p.Ser152Pro) c.*96T>C (n.*96T>C) c.*1318T>C (n.*1318T>C) c.396T>C c.98T>C n.290T>C c.445T>C (p.Ser149Pro) | |
9 | g.127663229T>G | CA374932927 | STXBP1 | c.412T>G (p.Ser138Ala) c.454T>G (p.Ser152Ala) c.*96T>G (n.*96T>G) c.*1318T>G (n.*1318T>G) c.396T>G c.98T>G n.290T>G c.445T>G (p.Ser149Ala) | |
9 | g.127663230C>A | CA374932928 | STXBP1 | c.413C>A (p.Ser138Tyr) c.455C>A (p.Ser152Tyr) c.*97C>A (n.*97C>A) c.*1319C>A (n.*1319C>A) c.397C>A c.99C>A n.291C>A c.446C>A (p.Ser149Tyr) | |
9 | g.127663230C>G | CA374932929 | STXBP1 | c.413C>G (p.Ser138Cys) c.455C>G (p.Ser152Cys) c.*97C>G (n.*97C>G) c.*1319C>G (n.*1319C>G) c.397C>G c.99C>G n.291C>G c.446C>G (p.Ser149Cys) | gnomAD v4 |
9 | g.127663230C>T | CA374932930 | STXBP1 | c.413C>T (p.Ser138Phe) c.455C>T (p.Ser152Phe) c.*97C>T (n.*97C>T) c.*1319C>T (n.*1319C>T) c.397C>T c.99C>T n.291C>T c.446C>T (p.Ser149Phe) | gnomAD v4 |
9 | g.127663231T>A | CA467222653 | STXBP1 | c.414T>A (p.Ser138=) c.456T>A (p.Ser152=) c.*98T>A (n.*98T>A) c.*1320T>A (n.*1320T>A) c.398T>A c.100T>A n.292T>A c.447T>A (p.Ser149=) | |
9 | g.127663231T>C | CA467222655 | STXBP1 | c.414T>C (p.Ser138=) c.456T>C (p.Ser152=) c.*98T>C (n.*98T>C) c.*1320T>C (n.*1320T>C) c.398T>C c.100T>C n.292T>C c.447T>C (p.Ser149=) | |
9 | g.127663231T>G | CA467222657 | STXBP1 | c.414T>G (p.Ser138=) c.456T>G (p.Ser152=) c.*98T>G (n.*98T>G) c.*1320T>G (n.*1320T>G) c.398T>G c.100T>G n.292T>G c.447T>G (p.Ser149=) | ClinVar dbSNP |
9 | g.127663232_127663233del | CA2739265034 | STXBP1 | c.415_416del (p.Phe139ProfsTer?) c.457_458del (p.Phe153ProfsTer?) c.*99_*100del (n.*99_*100del) c.*1321_*1322del (n.*1321_*1322del) c.399_400del c.101_102del n.293_294del c.448_449del (p.Phe150ProfsTer?) | ClinVar |
9 | g.127663232T>A | CA374932931 | STXBP1 | c.415T>A (p.Phe139Ile) c.457T>A (p.Phe153Ile) c.*99T>A (n.*99T>A) c.*1321T>A (n.*1321T>A) c.399T>A c.101T>A n.293T>A c.448T>A (p.Phe150Ile) | |
9 | g.127663232T>C | CA374932933 | STXBP1 | c.415T>C (p.Phe139Leu) c.457T>C (p.Phe153Leu) c.*99T>C (n.*99T>C) c.*1321T>C (n.*1321T>C) c.399T>C c.101T>C n.293T>C c.448T>C (p.Phe150Leu) | |
9 | g.127663232T>G | CA374932932 | STXBP1 | c.415T>G (p.Phe139Val) c.457T>G (p.Phe153Val) c.*99T>G (n.*99T>G) c.*1321T>G (n.*1321T>G) c.399T>G c.101T>G n.293T>G c.448T>G (p.Phe150Val) | |
9 | g.127663233T>A | CA374932934 | STXBP1 | c.416T>A (p.Phe139Tyr) c.458T>A (p.Phe153Tyr) c.*100T>A (n.*100T>A) c.*1322T>A (n.*1322T>A) c.400T>A c.102T>A n.294T>A c.449T>A (p.Phe150Tyr) | |
9 | g.127663233T>C | CA374932935 | STXBP1 | c.416T>C (p.Phe139Ser) c.458T>C (p.Phe153Ser) c.*100T>C (n.*100T>C) c.*1322T>C (n.*1322T>C) c.400T>C c.102T>C n.294T>C c.449T>C (p.Phe150Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127663233T>G | CA374932936 | STXBP1 | c.416T>G (p.Phe139Cys) c.458T>G (p.Phe153Cys) c.*100T>G (n.*100T>G) c.*1322T>G (n.*1322T>G) c.400T>G c.102T>G n.294T>G c.449T>G (p.Phe150Cys) | |
9 | g.127663233T= | CA1879908320 | STXBP1 | c.416T= (p.Phe139=) c.458T= (p.Phe153=) c.*100T= (n.*100T=) c.*1322T= (n.*1322T=) c.400T= c.102T= n.294T= c.449T= (p.Phe150=) | |
9 | g.127663234C>A | CA374932937 | STXBP1 | c.417C>A (p.Phe139Leu) c.459C>A (p.Phe153Leu) c.*101C>A (n.*101C>A) c.*1323C>A (n.*1323C>A) c.401C>A c.103C>A n.295C>A c.450C>A (p.Phe150Leu) | |
9 | g.127663234C= | CA1879908321 | STXBP1 | c.417C= (p.Phe139=) c.459C= (p.Phe153=) c.*101C= (n.*101C=) c.*1323C= (n.*1323C=) c.401C= c.103C= n.295C= c.450C= (p.Phe150=) | |
9 | g.127663234C>G | CA374932938 | STXBP1 | c.417C>G (p.Phe139Leu) c.459C>G (p.Phe153Leu) c.*101C>G (n.*101C>G) c.*1323C>G (n.*1323C>G) c.401C>G c.103C>G n.295C>G c.450C>G (p.Phe150Leu) | |
9 | g.127663234C>T | CA467222683 | STXBP1 | c.417C>T (p.Phe139=) c.459C>T (p.Phe153=) c.*101C>T (n.*101C>T) c.*1323C>T (n.*1323C>T) c.401C>T c.103C>T n.295C>T c.450C>T (p.Phe150=) | dbSNP gnomAD v4 |
9 | g.127663235C>A | CA374932939 | STXBP1 | c.418C>A (p.Gln140Lys) c.460C>A (p.Gln154Lys) c.*102C>A (n.*102C>A) c.*1324C>A (n.*1324C>A) c.402C>A c.104C>A n.296C>A c.451C>A (p.Gln151Lys) | |
9 | g.127663235C>G | CA374932941 | STXBP1 | c.418C>G (p.Gln140Glu) c.460C>G (p.Gln154Glu) c.*102C>G (n.*102C>G) c.*1324C>G (n.*1324C>G) c.402C>G c.104C>G n.296C>G c.451C>G (p.Gln151Glu) | |
9 | g.127663235C>T | CA374932940 | STXBP1 | c.418C>T (p.Gln140Ter) c.460C>T (p.Gln154Ter) c.*102C>T (n.*102C>T) c.*1324C>T (n.*1324C>T) c.402C>T c.104C>T n.296C>T c.451C>T (p.Gln151Ter) | |
9 | g.127663235_127663236delinsCA | CA1879908322 | STXBP1 | c.418_419delinsCA (p.Gln140=) c.460_461delinsCA (p.Gln154=) c.*102_*103delinsCA (n.*102_*103delinsCA) c.*1324_*1325delinsCA (n.*1324_*1325delinsCA) c.402_403delinsCA c.104_105delinsCA n.296_297delinsCA c.451_452delinsCA (p.Gln151=) | |
9 | g.127663236A>C | CA374932942 | STXBP1 | c.419A>C (p.Gln140Pro) c.461A>C (p.Gln154Pro) c.*103A>C (n.*103A>C) c.*1325A>C (n.*1325A>C) c.403A>C c.105A>C n.297A>C c.452A>C (p.Gln151Pro) | |
9 | g.127663236A>G | CA374932943 | STXBP1 | c.419A>G (p.Gln140Arg) c.461A>G (p.Gln154Arg) c.*103A>G (n.*103A>G) c.*1325A>G (n.*1325A>G) c.403A>G c.105A>G n.297A>G c.452A>G (p.Gln151Arg) | |
9 | g.127663236A>T | CA374932944 | STXBP1 | c.419A>T (p.Gln140Leu) c.461A>T (p.Gln154Leu) c.*103A>T (n.*103A>T) c.*1325A>T (n.*1325A>T) c.403A>T c.105A>T n.297A>T c.452A>T (p.Gln151Leu) | |
9 | g.127663238del | CA1139661181 | STXBP1 | c.421del (p.Ser141AlafsTer10) c.463del (p.Ser155AlafsTer10) c.*105del (n.*105del) c.*1327del (n.*1327del) c.405del c.107del c.421del (p.Ser141AlafsTer?) n.299del c.454del (p.Ser152AlafsTer10) | ClinVar dbSNP |
9 | g.127663237A= | CA1879908323 | STXBP1 | c.420A= (p.Gln140=) c.462A= (p.Gln154=) c.*104A= (n.*104A=) c.*1326A= (n.*1326A=) c.404A= c.106A= n.298A= c.453A= (p.Gln151=) | |
9 | g.127663237A>C | CA5248320 | STXBP1 | c.420A>C (p.Gln140His) c.462A>C (p.Gln154His) c.*104A>C (n.*104A>C) c.*1326A>C (n.*1326A>C) c.404A>C c.106A>C n.298A>C c.453A>C (p.Gln151His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127663237A>G | CA467222701 | STXBP1 | c.420A>G (p.Gln140=) c.462A>G (p.Gln154=) c.*104A>G (n.*104A>G) c.*1326A>G (n.*1326A>G) c.404A>G c.106A>G n.298A>G c.453A>G (p.Gln151=) | |
9 | g.127663237A>T | CA374932945 | STXBP1 | c.420A>T (p.Gln140His) c.462A>T (p.Gln154His) c.*104A>T (n.*104A>T) c.*1326A>T (n.*1326A>T) c.404A>T c.106A>T n.298A>T c.453A>T (p.Gln151His) | |
9 | g.127663238A>C | CA374932946 | STXBP1 | c.421A>C (p.Ser141Arg) c.463A>C (p.Ser155Arg) c.*105A>C (n.*105A>C) c.*1327A>C (n.*1327A>C) c.405A>C c.107A>C n.299A>C c.454A>C (p.Ser152Arg) | |
9 | g.127663238A>G | CA374932947 | STXBP1 | c.421A>G (p.Ser141Gly) c.463A>G (p.Ser155Gly) c.*105A>G (n.*105A>G) c.*1327A>G (n.*1327A>G) c.405A>G c.107A>G n.299A>G c.454A>G (p.Ser152Gly) | |
9 | g.127663238A>T | CA374932948 | STXBP1 | c.421A>T (p.Ser141Cys) c.463A>T (p.Ser155Cys) c.*105A>T (n.*105A>T) c.*1327A>T (n.*1327A>T) c.405A>T c.107A>T n.299A>T c.454A>T (p.Ser152Cys) | |
9 | g.127663239del | CA2739291261 | STXBP1 | c.422del (p.Ser141ThrfsTer10) c.464del (p.Ser155ThrfsTer10) c.*106del (n.*106del) c.*1328del (n.*1328del) c.406del c.108del c.422del (p.Ser141ThrfsTer?) n.300del c.455del (p.Ser152ThrfsTer10) | |
9 | g.127663239G>A | CA374932949 | STXBP1 | c.422G>A (p.Ser141Asn) c.464G>A (p.Ser155Asn) c.*106G>A (n.*106G>A) c.*1328G>A (n.*1328G>A) c.406G>A c.108G>A n.300G>A c.455G>A (p.Ser152Asn) | ClinVar dbSNP |
9 | g.127663239G>C | CA374932950 | STXBP1 | c.422G>C (p.Ser141Thr) c.464G>C (p.Ser155Thr) c.*106G>C (n.*106G>C) c.*1328G>C (n.*1328G>C) c.406G>C c.108G>C n.300G>C c.455G>C (p.Ser152Thr) | |
9 | g.127663239G= | CA1879908324 | STXBP1 | c.422G= (p.Ser141=) c.464G= (p.Ser155=) c.*106G= (n.*106G=) c.*1328G= (n.*1328G=) c.406G= c.108G= n.300G= c.455G= (p.Ser152=) | |
9 | g.127663239G>T | CA374932951 | STXBP1 | c.422G>T (p.Ser141Ile) c.464G>T (p.Ser155Ile) c.*106G>T (n.*106G>T) c.*1328G>T (n.*1328G>T) c.406G>T c.108G>T n.300G>T c.455G>T (p.Ser152Ile) | |
9 | g.127663240C>A | CA374932952 | STXBP1 | c.423C>A (p.Ser141Arg) c.465C>A (p.Ser155Arg) c.*107C>A (n.*107C>A) c.*1329C>A (n.*1329C>A) c.407C>A c.109C>A n.301C>A c.456C>A (p.Ser152Arg) | |
9 | g.127663240C>G | CA374932953 | STXBP1 | c.423C>G (p.Ser141Arg) c.465C>G (p.Ser155Arg) c.*107C>G (n.*107C>G) c.*1329C>G (n.*1329C>G) c.407C>G c.109C>G n.301C>G c.456C>G (p.Ser152Arg) | |
9 | g.127663240C>T | CA467222731 | STXBP1 | c.423C>T (p.Ser141=) c.465C>T (p.Ser155=) c.*107C>T (n.*107C>T) c.*1329C>T (n.*1329C>T) c.407C>T c.109C>T n.301C>T c.456C>T (p.Ser152=) | |
9 | g.127663241T>A | CA374932954 | STXBP1 | c.424T>A (p.Phe142Ile) c.466T>A (p.Phe156Ile) c.*108T>A (n.*108T>A) c.*1330T>A (n.*1330T>A) c.408T>A c.110T>A n.302T>A c.457T>A (p.Phe153Ile) | |
9 | g.127663241T>C | CA374932956 | STXBP1 | c.424T>C (p.Phe142Leu) c.466T>C (p.Phe156Leu) c.*108T>C (n.*108T>C) c.*1330T>C (n.*1330T>C) c.408T>C c.110T>C n.302T>C c.457T>C (p.Phe153Leu) | |
9 | g.127663241T>G | CA374932955 | STXBP1 | c.424T>G (p.Phe142Val) c.466T>G (p.Phe156Val) c.*108T>G (n.*108T>G) c.*1330T>G (n.*1330T>G) c.408T>G c.110T>G n.302T>G c.457T>G (p.Phe153Val) | |
9 | g.127663242T>A | CA374932957 | STXBP1 | c.425T>A (p.Phe142Tyr) c.467T>A (p.Phe156Tyr) c.*109T>A (n.*109T>A) c.*1331T>A (n.*1331T>A) c.409T>A c.111T>A n.303T>A c.458T>A (p.Phe153Tyr) | |
9 | g.127663242T>C | CA374932958 | STXBP1 | c.425T>C (p.Phe142Ser) c.467T>C (p.Phe156Ser) c.*109T>C (n.*109T>C) c.*1331T>C (n.*1331T>C) c.409T>C c.111T>C n.303T>C c.458T>C (p.Phe153Ser) | |
9 | g.127663242T>G | CA374932959 | STXBP1 | c.425T>G (p.Phe142Cys) c.467T>G (p.Phe156Cys) c.*109T>G (n.*109T>G) c.*1331T>G (n.*1331T>G) c.409T>G c.111T>G n.303T>G c.458T>G (p.Phe153Cys) | |
9 | g.127663243C>A | CA374932960 | STXBP1 | c.426C>A (p.Phe142Leu) c.468C>A (p.Phe156Leu) c.*110C>A (n.*110C>A) c.*1332C>A (n.*1332C>A) c.410C>A c.112C>A n.304C>A c.459C>A (p.Phe153Leu) | |
9 | g.127663243C>G | CA374932961 | STXBP1 | c.426C>G (p.Phe142Leu) c.468C>G (p.Phe156Leu) c.*110C>G (n.*110C>G) c.*1332C>G (n.*1332C>G) c.410C>G c.112C>G n.304C>G c.459C>G (p.Phe153Leu) | |
9 | g.127663243C>T | CA467222746 | STXBP1 | c.426C>T (p.Phe142=) c.468C>T (p.Phe156=) c.*110C>T (n.*110C>T) c.*1332C>T (n.*1332C>T) c.410C>T c.112C>T n.304C>T c.459C>T (p.Phe153=) | gnomAD v4 |
9 | g.127663244T>A | CA374932962 | STXBP1 | c.427T>A (p.Tyr143Asn) c.469T>A (p.Tyr157Asn) c.*111T>A (n.*111T>A) c.*1333T>A (n.*1333T>A) c.411T>A c.113T>A n.305T>A c.460T>A (p.Tyr154Asn) | |
9 | g.127663244T>C | CA374932963 | STXBP1 | c.427T>C (p.Tyr143His) c.469T>C (p.Tyr157His) c.*111T>C (n.*111T>C) c.*1333T>C (n.*1333T>C) c.411T>C c.113T>C n.305T>C c.460T>C (p.Tyr154His) | |
9 | g.127663244T>G | CA374932964 | STXBP1 | c.427T>G (p.Tyr143Asp) c.469T>G (p.Tyr157Asp) c.*111T>G (n.*111T>G) c.*1333T>G (n.*1333T>G) c.411T>G c.113T>G n.305T>G c.460T>G (p.Tyr154Asp) | |
9 | g.127663245A>C | CA374932965 | STXBP1 | c.428A>C (p.Tyr143Ser) c.470A>C (p.Tyr157Ser) c.*112A>C (n.*112A>C) c.*1334A>C (n.*1334A>C) c.412A>C c.114A>C n.306A>C c.461A>C (p.Tyr154Ser) | |
9 | g.127663245A>G | CA374932966 | STXBP1 | c.428A>G (p.Tyr143Cys) c.470A>G (p.Tyr157Cys) c.*112A>G (n.*112A>G) c.*1334A>G (n.*1334A>G) c.412A>G c.114A>G n.306A>G c.461A>G (p.Tyr154Cys) | |
9 | g.127663245A>T | CA374932967 | STXBP1 | c.428A>T (p.Tyr143Phe) c.470A>T (p.Tyr157Phe) c.*112A>T (n.*112A>T) c.*1334A>T (n.*1334A>T) c.412A>T c.114A>T n.306A>T c.461A>T (p.Tyr154Phe) | |
9 | g.127663246C>A | CA374932968 | STXBP1 | c.429C>A (p.Tyr143Ter) c.471C>A (p.Tyr157Ter) c.*113C>A (n.*113C>A) c.*1335C>A (n.*1335C>A) c.413C>A c.115C>A n.307C>A c.462C>A (p.Tyr154Ter) | |
9 | g.127663246C>G | CA374932969 | STXBP1 | c.429C>G (p.Tyr143Ter) c.471C>G (p.Tyr157Ter) c.*113C>G (n.*113C>G) c.*1335C>G (n.*1335C>G) c.413C>G c.115C>G n.307C>G c.462C>G (p.Tyr154Ter) | |
9 | g.127663246C>T | CA467222767 | STXBP1 | c.429C>T (p.Tyr143=) c.471C>T (p.Tyr157=) c.*113C>T (n.*113C>T) c.*1335C>T (n.*1335C>T) c.413C>T c.115C>T n.307C>T c.462C>T (p.Tyr154=) | gnomAD v4 COSMIC COSMIC |
9 | g.127663247A>C | CA374932972 | STXBP1 | c.430A>C (p.Ser144Arg) c.472A>C (p.Ser158Arg) c.*114A>C (n.*114A>C) c.*1336A>C (n.*1336A>C) c.414A>C c.116A>C n.308A>C c.463A>C (p.Ser155Arg) | |
9 | g.127663247A>G | CA374932970 | STXBP1 | c.430A>G (p.Ser144Gly) c.472A>G (p.Ser158Gly) c.*114A>G (n.*114A>G) c.*1336A>G (n.*1336A>G) c.414A>G c.116A>G n.308A>G c.463A>G (p.Ser155Gly) | gnomAD v4 |
9 | g.127663247A>T | CA374932971 | STXBP1 | c.430A>T (p.Ser144Cys) c.472A>T (p.Ser158Cys) c.*114A>T (n.*114A>T) c.*1336A>T (n.*1336A>T) c.414A>T c.116A>T n.308A>T c.463A>T (p.Ser155Cys) | |
9 | g.127663248G>A | CA374932973 | STXBP1 | c.431G>A (p.Ser144Asn) c.473G>A (p.Ser158Asn) c.*115G>A (n.*115G>A) c.*1337G>A (n.*1337G>A) c.415G>A c.117G>A n.309G>A c.464G>A (p.Ser155Asn) | |
9 | g.127663248G>C | CA374932974 | STXBP1 | c.431G>C (p.Ser144Thr) c.473G>C (p.Ser158Thr) c.*115G>C (n.*115G>C) c.*1337G>C (n.*1337G>C) c.415G>C c.117G>C n.309G>C c.464G>C (p.Ser155Thr) | |
9 | g.127663248G>T | CA374932975 | STXBP1 | c.431G>T (p.Ser144Ile) c.473G>T (p.Ser158Ile) c.*115G>T (n.*115G>T) c.*1337G>T (n.*1337G>T) c.415G>T c.117G>T n.309G>T c.464G>T (p.Ser155Ile) | |
9 | g.127663249T>A | CA374932976 | STXBP1 | c.432T>A (p.Ser144Arg) c.474T>A (p.Ser158Arg) c.*116T>A (n.*116T>A) c.*1338T>A (n.*1338T>A) c.416T>A c.118T>A n.310T>A c.465T>A (p.Ser155Arg) | |
9 | g.127663249T>C | CA467222801 | STXBP1 | c.432T>C (p.Ser144=) c.474T>C (p.Ser158=) c.*116T>C (n.*116T>C) c.*1338T>C (n.*1338T>C) c.416T>C c.118T>C n.310T>C c.465T>C (p.Ser155=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127663249T>G | CA374932977 | STXBP1 | c.432T>G (p.Ser144Arg) c.474T>G (p.Ser158Arg) c.*116T>G (n.*116T>G) c.*1338T>G (n.*1338T>G) c.416T>G c.118T>G n.310T>G c.465T>G (p.Ser155Arg) | |
9 | g.127663249T= | CA1879908325 | STXBP1 | c.432T= (p.Ser144=) c.474T= (p.Ser158=) c.*116T= (n.*116T=) c.*1338T= (n.*1338T=) c.416T= c.118T= n.310T= c.465T= (p.Ser155=) | |
9 | g.127663250C>A | CA374932978 | STXBP1 | c.433C>A (p.Pro145Thr) c.475C>A (p.Pro159Thr) c.*117C>A (n.*117C>A) c.*1339C>A (n.*1339C>A) c.417C>A c.119C>A n.311C>A c.466C>A (p.Pro156Thr) | ClinVar |
9 | g.127663250C>G | CA374932979 | STXBP1 | c.433C>G (p.Pro145Ala) c.475C>G (p.Pro159Ala) c.*117C>G (n.*117C>G) c.*1339C>G (n.*1339C>G) c.417C>G c.119C>G n.311C>G c.466C>G (p.Pro156Ala) | |
9 | g.127663250C>T | CA374932980 | STXBP1 | c.433C>T (p.Pro145Ser) c.475C>T (p.Pro159Ser) c.*117C>T (n.*117C>T) c.*1339C>T (n.*1339C>T) c.417C>T c.119C>T n.311C>T c.466C>T (p.Pro156Ser) | |
9 | g.127663253del | CA2844624883 | STXBP1 | c.436del (p.His146ThrfsTer5) c.478del (p.His160ThrfsTer5) c.*120del (n.*120del) c.*1342del (n.*1342del) c.420del c.122del c.436del (p.His146ThrfsTer?) n.314del c.469del (p.His157ThrfsTer5) | |
9 | g.127663251C>A | CA374932981 | STXBP1 | c.434C>A (p.Pro145His) c.476C>A (p.Pro159His) c.*118C>A (n.*118C>A) c.*1340C>A (n.*1340C>A) c.418C>A c.120C>A n.312C>A c.467C>A (p.Pro156His) | |
9 | g.127663251C>G | CA374932982 | STXBP1 | c.434C>G (p.Pro145Arg) c.476C>G (p.Pro159Arg) c.*118C>G (n.*118C>G) c.*1340C>G (n.*1340C>G) c.418C>G c.120C>G n.312C>G c.467C>G (p.Pro156Arg) | |
9 | g.127663251C>T | CA374932983 | STXBP1 | c.434C>T (p.Pro145Leu) c.476C>T (p.Pro159Leu) c.*118C>T (n.*118C>T) c.*1340C>T (n.*1340C>T) c.418C>T c.120C>T n.312C>T c.467C>T (p.Pro156Leu) | |
9 | g.127663252C>A | CA467222833 | STXBP1 | c.435C>A (p.Pro145=) c.477C>A (p.Pro159=) c.*119C>A (n.*119C>A) c.*1341C>A (n.*1341C>A) c.419C>A c.121C>A n.313C>A c.468C>A (p.Pro156=) | |
9 | g.127663252C= | CA1879908326 | STXBP1 | c.435C= (p.Pro145=) c.477C= (p.Pro159=) c.*119C= (n.*119C=) c.*1341C= (n.*1341C=) c.419C= c.121C= n.313C= c.468C= (p.Pro156=) | |
9 | g.127663252C>G | CA5248321 | STXBP1 | c.435C>G (p.Pro145=) c.477C>G (p.Pro159=) c.*119C>G (n.*119C>G) c.*1341C>G (n.*1341C>G) c.419C>G c.121C>G n.313C>G c.468C>G (p.Pro156=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127663252C>T | CA467222837 | STXBP1 | c.435C>T (p.Pro145=) c.477C>T (p.Pro159=) c.*119C>T (n.*119C>T) c.*1341C>T (n.*1341C>T) c.419C>T c.121C>T n.313C>T c.468C>T (p.Pro156=) | COSMIC COSMIC |
9 | g.127663253C>A | CA374932986 | STXBP1 | c.436C>A (p.His146Asn) c.478C>A (p.His160Asn) c.*120C>A (n.*120C>A) c.*1342C>A (n.*1342C>A) c.420C>A c.122C>A n.314C>A c.469C>A (p.His157Asn) | ClinVar dbSNP gnomAD v4 |
9 | g.127663253C= | CA1879908327 | STXBP1 | c.436C= (p.His146=) c.478C= (p.His160=) c.*120C= (n.*120C=) c.*1342C= (n.*1342C=) c.420C= c.122C= n.314C= c.469C= (p.His157=) | |
9 | g.127663253C>G | CA374932984 | STXBP1 | c.436C>G (p.His146Asp) c.478C>G (p.His160Asp) c.*120C>G (n.*120C>G) c.*1342C>G (n.*1342C>G) c.420C>G c.122C>G n.314C>G c.469C>G (p.His157Asp) | |
9 | g.127663253C>T | CA374932985 | STXBP1 | c.436C>T (p.His146Tyr) c.478C>T (p.His160Tyr) c.*120C>T (n.*120C>T) c.*1342C>T (n.*1342C>T) c.420C>T c.122C>T n.314C>T c.469C>T (p.His157Tyr) | ClinVar |
9 | g.127663254A= | CA1879908328 | STXBP1 | c.437A= (p.His146=) c.479A= (p.His160=) c.*121A= (n.*121A=) c.*1343A= (n.*1343A=) c.421A= c.123A= n.315A= c.470A= (p.His157=) | |
9 | g.127663254A>C | CA374932987 | STXBP1 | c.437A>C (p.His146Pro) c.479A>C (p.His160Pro) c.*121A>C (n.*121A>C) c.*1343A>C (n.*1343A>C) c.421A>C c.123A>C n.315A>C c.470A>C (p.His157Pro) | |
9 | g.127663254A>G | CA374932988 | STXBP1 | c.437A>G (p.His146Arg) c.479A>G (p.His160Arg) c.*121A>G (n.*121A>G) c.*1343A>G (n.*1343A>G) c.421A>G c.123A>G n.315A>G c.470A>G (p.His157Arg) | |
9 | g.127663254A>T | CA374932989 | STXBP1 | c.437A>T (p.His146Leu) c.479A>T (p.His160Leu) c.*121A>T (n.*121A>T) c.*1343A>T (n.*1343A>T) c.421A>T c.123A>T n.315A>T c.470A>T (p.His157Leu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127663255C>A | CA374932990 | STXBP1 | c.438C>A (p.His146Gln) c.480C>A (p.His160Gln) c.*122C>A (n.*122C>A) c.*1344C>A (n.*1344C>A) c.422C>A c.124C>A n.316C>A c.471C>A (p.His157Gln) | |
9 | g.127663255C>G | CA374932991 | STXBP1 | c.438C>G (p.His146Gln) c.480C>G (p.His160Gln) c.*122C>G (n.*122C>G) c.*1344C>G (n.*1344C>G) c.422C>G c.124C>G n.316C>G c.471C>G (p.His157Gln) | |
9 | g.127663255C>T | CA467222859 | STXBP1 | c.438C>T (p.His146=) c.480C>T (p.His160=) c.*122C>T (n.*122C>T) c.*1344C>T (n.*1344C>T) c.422C>T c.124C>T n.316C>T c.471C>T (p.His157=) | gnomAD v4 |
9 | g.127663256A>C | CA374932992 | STXBP1 | c.439A>C (p.Lys147Gln) c.481A>C (p.Lys161Gln) c.*123A>C (n.*123A>C) c.*1345A>C (n.*1345A>C) c.423A>C c.125A>C n.317A>C c.472A>C (p.Lys158Gln) | |
9 | g.127663256A>G | CA374932993 | STXBP1 | c.439A>G (p.Lys147Glu) c.481A>G (p.Lys161Glu) c.*123A>G (n.*123A>G) c.*1345A>G (n.*1345A>G) c.423A>G c.125A>G n.317A>G c.472A>G (p.Lys158Glu) | |
9 | g.127663256A>T | CA374932994 | STXBP1 | c.439A>T (p.Lys147Ter) c.481A>T (p.Lys161Ter) c.*123A>T (n.*123A>T) c.*1345A>T (n.*1345A>T) c.423A>T c.125A>T n.317A>T c.472A>T (p.Lys158Ter) | |
9 | g.127663257dup | CA2842235106 | STXBP1 | c.440dup (p.Ala148GlyfsTer?) c.482dup (p.Ala162GlyfsTer?) c.*124dup (n.*124dup) c.*1346dup (n.*1346dup) c.424dup c.126dup c.440dup (p.Lys147=) n.318dup c.473dup (p.Ala159GlyfsTer?) | |
9 | g.127663257A= | CA1879908329 | STXBP1 | c.440A= (p.Lys147=) c.482A= (p.Lys161=) c.*124A= (n.*124A=) c.*1346A= (n.*1346A=) c.424A= c.126A= n.318A= c.473A= (p.Lys158=) | |
9 | g.127663257A>C | CA374932995 | STXBP1 | c.440A>C (p.Lys147Thr) c.482A>C (p.Lys161Thr) c.*124A>C (n.*124A>C) c.*1346A>C (n.*1346A>C) c.424A>C c.126A>C n.318A>C c.473A>C (p.Lys158Thr) | |
9 | g.127663257A>G | CA374932996 | STXBP1 | c.440A>G (p.Lys147Arg) c.482A>G (p.Lys161Arg) c.*124A>G (n.*124A>G) c.*1346A>G (n.*1346A>G) c.424A>G c.126A>G n.318A>G c.473A>G (p.Lys158Arg) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127663257A>T | CA374932997 | STXBP1 | c.440A>T (p.Lys147Met) c.482A>T (p.Lys161Met) c.*124A>T (n.*124A>T) c.*1346A>T (n.*1346A>T) c.424A>T c.126A>T n.318A>T c.473A>T (p.Lys158Met) | |
9 | g.127663258G>A | CA467222877 | STXBP1 | c.441G>A (p.Lys147=) c.483G>A (p.Lys161=) c.*125G>A (n.*125G>A) c.*1347G>A (n.*1347G>A) c.425G>A c.127G>A n.319G>A c.474G>A (p.Lys158=) | |
9 | g.127663258G>C | CA374932998 | STXBP1 | c.441G>C (p.Lys147Asn) c.483G>C (p.Lys161Asn) c.*125G>C (n.*125G>C) c.*1347G>C (n.*1347G>C) c.425G>C c.127G>C n.319G>C c.474G>C (p.Lys158Asn) | |
9 | g.127663258G>T | CA374932999 | STXBP1 | c.441G>T (p.Lys147Asn) c.483G>T (p.Lys161Asn) c.*125G>T (n.*125G>T) c.*1347G>T (n.*1347G>T) c.425G>T c.127G>T n.319G>T c.474G>T (p.Lys158Asn) | |
9 | g.127663259G>A | CA374933002 | STXBP1 | c.442G>A (p.Ala148Thr) c.484G>A (p.Ala162Thr) c.*126G>A (n.*126G>A) c.*1348G>A (n.*1348G>A) c.426G>A c.128G>A n.320G>A c.475G>A (p.Ala159Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127663259G>C | CA374933001 | STXBP1 | c.442G>C (p.Ala148Pro) c.484G>C (p.Ala162Pro) c.*126G>C (n.*126G>C) c.*1348G>C (n.*1348G>C) c.426G>C c.128G>C n.320G>C c.475G>C (p.Ala159Pro) | |
9 | g.127663259G= | CA1879908330 | STXBP1 | c.442G= (p.Ala148=) c.484G= (p.Ala162=) c.*126G= (n.*126G=) c.*1348G= (n.*1348G=) c.426G= c.128G= n.320G= c.475G= (p.Ala159=) | |
9 | g.127663259G>T | CA374933000 | STXBP1 | c.442G>T (p.Ala148Ser) c.484G>T (p.Ala162Ser) c.*126G>T (n.*126G>T) c.*1348G>T (n.*1348G>T) c.426G>T c.128G>T n.320G>T c.475G>T (p.Ala159Ser) | |
9 | g.127663260C>A | CA374933003 | STXBP1 | c.443C>A (p.Ala148Asp) c.485C>A (p.Ala162Asp) c.*127C>A (n.*127C>A) c.*1349C>A (n.*1349C>A) c.427C>A c.129C>A n.321C>A c.476C>A (p.Ala159Asp) | |
9 | g.127663260C>G | CA374933004 | STXBP1 | c.443C>G (p.Ala148Gly) c.485C>G (p.Ala162Gly) c.*127C>G (n.*127C>G) c.*1349C>G (n.*1349C>G) c.427C>G c.129C>G n.321C>G c.476C>G (p.Ala159Gly) | |
9 | g.127663260C>T | CA374933005 | STXBP1 | c.443C>T (p.Ala148Val) c.485C>T (p.Ala162Val) c.*127C>T (n.*127C>T) c.*1349C>T (n.*1349C>T) c.427C>T c.129C>T n.321C>T c.476C>T (p.Ala159Val) | gnomAD v4 |
9 | g.127663261T>A | CA467222890 | STXBP1 | c.444T>A (p.Ala148=) c.486T>A (p.Ala162=) c.*128T>A (n.*128T>A) c.*1350T>A (n.*1350T>A) c.428T>A c.130T>A n.322T>A c.477T>A (p.Ala159=) | ClinVar |
9 | g.127663261T>C | CA467222895 | STXBP1 | c.444T>C (p.Ala148=) c.486T>C (p.Ala162=) c.*128T>C (n.*128T>C) c.*1350T>C (n.*1350T>C) c.428T>C c.130T>C n.322T>C c.477T>C (p.Ala159=) | ClinVar |
9 | g.127663261T>G | CA467222899 | STXBP1 | c.444T>G (p.Ala148=) c.486T>G (p.Ala162=) c.*128T>G (n.*128T>G) c.*1350T>G (n.*1350T>G) c.428T>G c.130T>G n.322T>G c.477T>G (p.Ala159=) | |
9 | g.127663262C>A | CA374933006 | STXBP1 | c.445C>A (p.Gln149Lys) c.487C>A (p.Gln163Lys) c.*129C>A (n.*129C>A) c.*1351C>A (n.*1351C>A) c.429C>A c.131C>A n.323C>A c.478C>A (p.Gln160Lys) | |
9 | g.127663262C>G | CA374933007 | STXBP1 | c.445C>G (p.Gln149Glu) c.487C>G (p.Gln163Glu) c.*129C>G (n.*129C>G) c.*1351C>G (n.*1351C>G) c.429C>G c.131C>G n.323C>G c.478C>G (p.Gln160Glu) | |
9 | g.127663262C>T | CA374933008 | STXBP1 | c.445C>T (p.Gln149Ter) c.487C>T (p.Gln163Ter) c.*129C>T (n.*129C>T) c.*1351C>T (n.*1351C>T) c.429C>T c.131C>T n.323C>T c.478C>T (p.Gln160Ter) | |
9 | g.127663263A= | CA1879908331 | STXBP1 | c.446A= (p.Gln149=) c.488A= (p.Gln163=) c.*130A= (n.*130A=) c.*1352A= (n.*1352A=) c.430A= c.132A= n.324A= c.479A= (p.Gln160=) | |
9 | g.127663263A>C | CA374933009 | STXBP1 | c.446A>C (p.Gln149Pro) c.488A>C (p.Gln163Pro) c.*130A>C (n.*130A>C) c.*1352A>C (n.*1352A>C) c.430A>C c.132A>C n.324A>C c.479A>C (p.Gln160Pro) | |
9 | g.127663263A>G | CA374933010 | STXBP1 | c.446A>G (p.Gln149Arg) c.488A>G (p.Gln163Arg) c.*130A>G (n.*130A>G) c.*1352A>G (n.*1352A>G) c.430A>G c.132A>G n.324A>G c.479A>G (p.Gln160Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.127663263A>T | CA374933011 | STXBP1 | c.446A>T (p.Gln149Leu) c.488A>T (p.Gln163Leu) c.*130A>T (n.*130A>T) c.*1352A>T (n.*1352A>T) c.430A>T c.132A>T n.324A>T c.479A>T (p.Gln160Leu) | |
9 | g.127663264G>A | CA467222913 | STXBP1 | c.447G>A (p.Gln149=) c.489G>A (p.Gln163=) c.*131G>A (n.*131G>A) c.*1353G>A (n.*1353G>A) c.431G>A c.133G>A n.325G>A c.480G>A (p.Gln160=) | |
9 | g.127663264G>C | CA374933012 | STXBP1 | c.447G>C (p.Gln149His) c.489G>C (p.Gln163His) c.*131G>C (n.*131G>C) c.*1353G>C (n.*1353G>C) c.431G>C c.133G>C n.325G>C c.480G>C (p.Gln160His) | gnomAD v4 |
9 | g.127663264G>T | CA374933013 | STXBP1 | c.447G>T (p.Gln149His) c.489G>T (p.Gln163His) c.*131G>T (n.*131G>T) c.*1353G>T (n.*1353G>T) c.431G>T c.133G>T n.325G>T c.480G>T (p.Gln160His) | |
9 | g.127663265A>C | CA374933014 | STXBP1 | c.448A>C (p.Met150Leu) c.490A>C (p.Met164Leu) c.*132A>C (n.*132A>C) c.*1354A>C (n.*1354A>C) c.432A>C c.134A>C c.448A>C n.326A>C c.481A>C (p.Met161Leu) | |
9 | g.127663265A>G | CA374933015 | STXBP1 | c.448A>G (p.Met150Val) c.490A>G (p.Met164Val) c.*132A>G (n.*132A>G) c.*1354A>G (n.*1354A>G) c.432A>G c.134A>G c.448A>G n.326A>G c.481A>G (p.Met161Val) | |
9 | g.127663265A>T | CA374933016 | STXBP1 | c.448A>T (p.Met150Leu) c.490A>T (p.Met164Leu) c.*132A>T (n.*132A>T) c.*1354A>T (n.*1354A>T) c.432A>T c.134A>T c.448A>T n.326A>T c.481A>T (p.Met161Leu) | gnomAD v4 |
9 | g.127663266T>A | CA374933019 | STXBP1 | c.449T>A (p.Met150Lys) c.491T>A (p.Met164Lys) c.*133T>A (n.*133T>A) c.*1355T>A (n.*1355T>A) c.433T>A c.135T>A n.327T>A c.482T>A (p.Met161Lys) | |
9 | g.127663266T>C | CA374933018 | STXBP1 | c.449T>C (p.Met150Thr) c.491T>C (p.Met164Thr) c.*133T>C (n.*133T>C) c.*1355T>C (n.*1355T>C) c.433T>C c.135T>C n.327T>C c.482T>C (p.Met161Thr) | |
9 | g.127663266T>G | CA374933017 | STXBP1 | c.449T>G (p.Met150Arg) c.491T>G (p.Met164Arg) c.*133T>G (n.*133T>G) c.*1355T>G (n.*1355T>G) c.433T>G c.135T>G n.327T>G c.482T>G (p.Met161Arg) | |
9 | g.127663267G>A | CA374933020 | STXBP1 | c.450G>A (p.Met150Ile) c.492G>A (p.Met164Ile) c.*134G>A (n.*134G>A) c.*1356G>A (n.*1356G>A) c.434G>A c.136G>A n.328G>A c.483G>A (p.Met161Ile) | dbSNP |
9 | g.127663267G>C | CA374933021 | STXBP1 | c.450G>C (p.Met150Ile) c.492G>C (p.Met164Ile) c.*134G>C (n.*134G>C) c.*1356G>C (n.*1356G>C) c.434G>C c.136G>C n.328G>C c.483G>C (p.Met161Ile) | |
9 | g.127663267G= | CA1879908332 | STXBP1 | c.450G= (p.Met150=) c.492G= (p.Met164=) c.*134G= (n.*134G=) c.*1356G= (n.*1356G=) c.434G= c.136G= n.328G= c.483G= (p.Met161=) | |
9 | g.127663267G>T | CA374933022 | STXBP1 | c.450G>T (p.Met150Ile) c.492G>T (p.Met164Ile) c.*134G>T (n.*134G>T) c.*1356G>T (n.*1356G>T) c.434G>T c.136G>T n.328G>T c.483G>T (p.Met161Ile) | |
9 | g.127663268A>C | CA374933023 | STXBP1 | c.451A>C (p.Lys151Gln) c.493A>C (p.Lys165Gln) c.*135A>C (n.*135A>C) c.*1357A>C (n.*1357A>C) c.435A>C c.137A>C n.329A>C c.484A>C (p.Lys162Gln) | |
9 | g.127663268A>G | CA374933024 | STXBP1 | c.451A>G (p.Lys151Glu) c.493A>G (p.Lys165Glu) c.*135A>G (n.*135A>G) c.*1357A>G (n.*1357A>G) c.435A>G c.137A>G n.329A>G c.484A>G (p.Lys162Glu) | |
9 | g.127663268A>T | CA374933025 | STXBP1 | c.451A>T (p.Lys151Ter) c.493A>T (p.Lys165Ter) c.*135A>T (n.*135A>T) c.*1357A>T (n.*1357A>T) c.435A>T c.137A>T n.329A>T c.484A>T (p.Lys162Ter) | |
9 | g.127663269A= | CA1879908335 | STXBP1 | c.452A= (p.Lys151=) c.494A= (p.Lys165=) c.*136A= (n.*136A=) c.*1358A= (n.*1358A=) c.436A= c.138A= n.330A= c.485A= (p.Lys162=) | |
9 | g.127663269A>C | CA374933028 | STXBP1 | c.452A>C (p.Lys151Thr) c.494A>C (p.Lys165Thr) c.*136A>C (n.*136A>C) c.*1358A>C (n.*1358A>C) c.436A>C c.138A>C n.330A>C c.485A>C (p.Lys162Thr) | |
9 | g.127663269A>G | CA374933026 | STXBP1 | c.452A>G (p.Lys151Arg) c.494A>G (p.Lys165Arg) c.*136A>G (n.*136A>G) c.*1358A>G (n.*1358A>G) c.436A>G c.138A>G n.330A>G c.485A>G (p.Lys162Arg) | ClinVar dbSNP COSMIC COSMIC |
9 | g.127663269A>T | CA374933027 | STXBP1 | c.452A>T (p.Lys151Met) c.494A>T (p.Lys165Met) c.*136A>T (n.*136A>T) c.*1358A>T (n.*1358A>T) c.436A>T c.138A>T n.330A>T c.485A>T (p.Lys162Met) | |
9 | g.127663270G>A | CA467222937 | STXBP1 | c.453G>A (p.Lys151=) c.495G>A (p.Lys165=) c.*137G>A (n.*137G>A) c.*1359G>A (n.*1359G>A) c.437G>A c.139G>A n.331G>A c.486G>A (p.Lys162=) | |
9 | g.127663270G>C | CA374933029 | STXBP1 | c.453G>C (p.Lys151Asn) c.495G>C (p.Lys165Asn) c.*137G>C (n.*137G>C) c.*1359G>C (n.*1359G>C) c.437G>C c.139G>C n.331G>C c.486G>C (p.Lys162Asn) | |
9 | g.127663270G>T | CA374933030 | STXBP1 | c.453G>T (p.Lys151Asn) c.495G>T (p.Lys165Asn) c.*137G>T (n.*137G>T) c.*1359G>T (n.*1359G>T) c.437G>T c.139G>T n.331G>T c.486G>T (p.Lys162Asn) | |
9 | g.127663271A>C | CA374933031 | STXBP1 | c.454A>C (p.Asn152His) c.496A>C (p.Asn166His) c.*138A>C (n.*138A>C) c.*1360A>C (n.*1360A>C) c.438A>C c.140A>C n.332A>C c.487A>C (p.Asn163His) | |
9 | g.127663271A>G | CA374933032 | STXBP1 | c.454A>G (p.Asn152Asp) c.496A>G (p.Asn166Asp) c.*138A>G (n.*138A>G) c.*1360A>G (n.*1360A>G) c.438A>G c.140A>G n.332A>G c.487A>G (p.Asn163Asp) | ClinVar gnomAD v4 |
9 | g.127663271A>T | CA374933033 | STXBP1 | c.454A>T (p.Asn152Tyr) c.496A>T (p.Asn166Tyr) c.*138A>T (n.*138A>T) c.*1360A>T (n.*1360A>T) c.438A>T c.140A>T n.332A>T c.487A>T (p.Asn163Tyr) | |
9 | g.127663272del | CA2695211192 | STXBP1 | c.455del (p.Asn152IlefsTer18) c.497del (p.Asn166IlefsTer18) c.*139del (n.*139del) c.*1361del (n.*1361del) c.439del c.141del n.333del c.488del (p.Asn163IlefsTer18) | |
9 | g.127663272A= | CA1879908341 | STXBP1 | c.455A= (p.Asn152=) c.497A= (p.Asn166=) c.*139A= (n.*139A=) c.*1361A= (n.*1361A=) c.439A= c.141A= n.333A= c.488A= (p.Asn163=) | |
9 | g.127663272A>C | CA374933034 | STXBP1 | c.455A>C (p.Asn152Thr) c.497A>C (p.Asn166Thr) c.*139A>C (n.*139A>C) c.*1361A>C (n.*1361A>C) c.439A>C c.141A>C n.333A>C c.488A>C (p.Asn163Thr) | |
9 | g.127663272A>G | CA374933036 | STXBP1 | c.455A>G (p.Asn152Ser) c.497A>G (p.Asn166Ser) c.*139A>G (n.*139A>G) c.*1361A>G (n.*1361A>G) c.439A>G c.141A>G n.333A>G c.488A>G (p.Asn163Ser) | ClinVar dbSNP gnomAD v4 |
9 | g.127663272A>T | CA374933035 | STXBP1 | c.455A>T (p.Asn152Ile) c.497A>T (p.Asn166Ile) c.*139A>T (n.*139A>T) c.*1361A>T (n.*1361A>T) c.439A>T c.141A>T n.333A>T c.488A>T (p.Asn163Ile) | |
9 | g.127663273T>A | CA374933037 | STXBP1 | c.456T>A (p.Asn152Lys) c.498T>A (p.Asn166Lys) c.*140T>A (n.*140T>A) c.*1362T>A (n.*1362T>A) c.440T>A c.142T>A n.334T>A c.489T>A (p.Asn163Lys) | |
9 | g.127663273T>C | CA467222955 | STXBP1 | c.456T>C (p.Asn152=) c.498T>C (p.Asn166=) c.*140T>C (n.*140T>C) c.*1362T>C (n.*1362T>C) c.440T>C c.142T>C n.334T>C c.489T>C (p.Asn163=) | |
9 | g.127663273T>G | CA374933038 | STXBP1 | c.456T>G (p.Asn152Lys) c.498T>G (p.Asn166Lys) c.*140T>G (n.*140T>G) c.*1362T>G (n.*1362T>G) c.440T>G c.142T>G n.334T>G c.489T>G (p.Asn163Lys) | |
9 | g.127663274C>A | CA374933039 | STXBP1 | c.457C>A (p.Pro153Thr) c.499C>A (p.Pro167Thr) c.*141C>A (n.*141C>A) c.*1363C>A (n.*1363C>A) c.441C>A c.143C>A n.335C>A c.490C>A (p.Pro164Thr) | |
9 | g.127663274C= | CA1879908344 | STXBP1 | c.457C= (p.Pro153=) c.499C= (p.Pro167=) c.*141C= (n.*141C=) c.*1363C= (n.*1363C=) c.441C= c.143C= n.335C= c.490C= (p.Pro164=) | |
9 | g.127663274C>G | CA374933040 | STXBP1 | c.457C>G (p.Pro153Ala) c.499C>G (p.Pro167Ala) c.*141C>G (n.*141C>G) c.*1363C>G (n.*1363C>G) c.441C>G c.143C>G n.335C>G c.490C>G (p.Pro164Ala) | dbSNP gnomAD v4 |
9 | g.127663274C>T | CA374933041 | STXBP1 | c.457C>T (p.Pro153Ser) c.499C>T (p.Pro167Ser) c.*141C>T (n.*141C>T) c.*1363C>T (n.*1363C>T) c.441C>T c.143C>T n.335C>T c.490C>T (p.Pro164Ser) | |
9 | g.127663275C>A | CA374933042 | STXBP1 | c.458C>A (p.Pro153His) c.500C>A (p.Pro167His) c.*142C>A (n.*142C>A) c.*1364C>A (n.*1364C>A) c.442C>A c.144C>A n.336C>A c.491C>A (p.Pro164His) | |
9 | g.127663275C>G | CA374933043 | STXBP1 | c.458C>G (p.Pro153Arg) c.500C>G (p.Pro167Arg) c.*142C>G (n.*142C>G) c.*1364C>G (n.*1364C>G) c.442C>G c.144C>G n.336C>G c.491C>G (p.Pro164Arg) | |
9 | g.127663275C>T | CA374933044 | STXBP1 | c.458C>T (p.Pro153Leu) c.500C>T (p.Pro167Leu) c.*142C>T (n.*142C>T) c.*1364C>T (n.*1364C>T) c.442C>T c.144C>T n.336C>T c.491C>T (p.Pro164Leu) | |
9 | g.127663276T>A | CA467222970 | STXBP1 | c.459T>A (p.Pro153=) c.501T>A (p.Pro167=) c.*143T>A (n.*143T>A) c.*1365T>A (n.*1365T>A) c.443T>A c.145T>A n.337T>A c.492T>A (p.Pro164=) | |
9 | g.127663276T>C | CA467222972 | STXBP1 | c.459T>C (p.Pro153=) c.501T>C (p.Pro167=) c.*143T>C (n.*143T>C) c.*1365T>C (n.*1365T>C) c.443T>C c.145T>C n.337T>C c.492T>C (p.Pro164=) | |
9 | g.127663276T>G | CA467222973 | STXBP1 | c.459T>G (p.Pro153=) c.501T>G (p.Pro167=) c.*143T>G (n.*143T>G) c.*1365T>G (n.*1365T>G) c.443T>G c.145T>G n.337T>G c.492T>G (p.Pro164=) | |
9 | g.127663277A= | CA1879908348 | STXBP1 | c.460A= (p.Ile154=) c.502A= (p.Ile168=) c.*144A= (n.*144A=) c.*1366A= (n.*1366A=) c.444A= c.146A= n.338A= c.493A= (p.Ile165=) | |
9 | g.127663277A>C | CA374933045 | STXBP1 | c.460A>C (p.Ile154Leu) c.502A>C (p.Ile168Leu) c.*144A>C (n.*144A>C) c.*1366A>C (n.*1366A>C) c.444A>C c.146A>C n.338A>C c.493A>C (p.Ile165Leu) | |
9 | g.127663277A>G | CA374933046 | STXBP1 | c.460A>G (p.Ile154Val) c.502A>G (p.Ile168Val) c.*144A>G (n.*144A>G) c.*1366A>G (n.*1366A>G) c.444A>G c.146A>G n.338A>G c.493A>G (p.Ile165Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127663277A>T | CA374933047 | STXBP1 | c.460A>T (p.Ile154Leu) c.502A>T (p.Ile168Leu) c.*144A>T (n.*144A>T) c.*1366A>T (n.*1366A>T) c.444A>T c.146A>T n.338A>T c.493A>T (p.Ile165Leu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127663278T>A | CA374933048 | STXBP1 | c.461T>A (p.Ile154Lys) c.503T>A (p.Ile168Lys) c.*145T>A (n.*145T>A) c.*1367T>A (n.*1367T>A) c.445T>A c.147T>A n.339T>A c.494T>A (p.Ile165Lys) | |
9 | g.127663278T>C | CA200263172 | STXBP1 | c.461T>C (p.Ile154Thr) c.503T>C (p.Ile168Thr) c.*145T>C (n.*145T>C) c.*1367T>C (n.*1367T>C) c.445T>C c.147T>C n.339T>C c.494T>C (p.Ile165Thr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127663278T>G | CA374933049 | STXBP1 | c.461T>G (p.Ile154Arg) c.503T>G (p.Ile168Arg) c.*145T>G (n.*145T>G) c.*1367T>G (n.*1367T>G) c.445T>G c.147T>G n.339T>G c.494T>G (p.Ile165Arg) | |
9 | g.127663278T= | CA1879908353 | STXBP1 | c.461T= (p.Ile154=) c.503T= (p.Ile168=) c.*145T= (n.*145T=) c.*1367T= (n.*1367T=) c.445T= c.147T= n.339T= c.494T= (p.Ile165=) | |
9 | g.127663279A= | CA1879908357 | STXBP1 | c.462A= (p.Ile154=) c.504A= (p.Ile168=) c.*146A= (n.*146A=) c.*1368A= (n.*1368A=) c.446A= c.148A= n.340A= c.495A= (p.Ile165=) | |
9 | g.127663279A>C | CA467222985 | STXBP1 | c.462A>C (p.Ile154=) c.504A>C (p.Ile168=) c.*146A>C (n.*146A>C) c.*1368A>C (n.*1368A>C) c.446A>C c.148A>C n.340A>C c.495A>C (p.Ile165=) | |
9 | g.127663279A>G | CA5248322 | STXBP1 | c.462A>G (p.Ile154Met) c.504A>G (p.Ile168Met) c.*146A>G (n.*146A>G) c.*1368A>G (n.*1368A>G) c.446A>G c.148A>G n.340A>G c.495A>G (p.Ile165Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127663279A>T | CA467222988 | STXBP1 | c.462A>T (p.Ile154=) c.504A>T (p.Ile168=) c.*146A>T (n.*146A>T) c.*1368A>T (n.*1368A>T) c.446A>T c.148A>T n.340A>T c.495A>T (p.Ile165=) | |
9 | g.127663280C>A | CA374933051 | STXBP1 | c.463C>A (p.Leu155Met) c.505C>A (p.Leu169Met) c.*147C>A (n.*147C>A) c.*1369C>A (n.*1369C>A) c.447C>A c.149C>A n.341C>A c.496C>A (p.Leu166Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127663280C= | CA1879908360 | STXBP1 | c.463C= (p.Leu155=) c.505C= (p.Leu169=) c.*147C= (n.*147C=) c.*1369C= (n.*1369C=) c.447C= c.149C= n.341C= c.496C= (p.Leu166=) | |
9 | g.127663280C>G | CA374933050 | STXBP1 | c.463C>G (p.Leu155Val) c.505C>G (p.Leu169Val) c.*147C>G (n.*147C>G) c.*1369C>G (n.*1369C>G) c.447C>G c.149C>G n.341C>G c.496C>G (p.Leu166Val) | |
9 | g.127663280C>T | CA467222992 | STXBP1 | c.463C>T (p.Leu155=) c.505C>T (p.Leu169=) c.*147C>T (n.*147C>T) c.*1369C>T (n.*1369C>T) c.447C>T c.149C>T n.341C>T c.496C>T (p.Leu166=) | |
9 | g.127663281T>A | CA374933054 | STXBP1 | c.464T>A (p.Leu155Gln) c.506T>A (p.Leu169Gln) c.*148T>A (n.*148T>A) c.*1370T>A (n.*1370T>A) c.448T>A c.150T>A n.342T>A c.497T>A (p.Leu166Gln) | |
9 | g.127663281T>C | CA374933052 | STXBP1 | c.464T>C (p.Leu155Pro) c.506T>C (p.Leu169Pro) c.*148T>C (n.*148T>C) c.*1370T>C (n.*1370T>C) c.448T>C c.150T>C n.342T>C c.497T>C (p.Leu166Pro) | gnomAD v4 |
9 | g.127663281T>G | CA374933053 | STXBP1 | c.464T>G (p.Leu155Arg) c.506T>G (p.Leu169Arg) c.*148T>G (n.*148T>G) c.*1370T>G (n.*1370T>G) c.448T>G c.150T>G n.342T>G c.497T>G (p.Leu166Arg) | |
9 | g.127663282G>A | CA467223000 | STXBP1 | c.465G>A (p.Leu155=) c.507G>A (p.Leu169=) c.*149G>A (n.*149G>A) c.*1371G>A (n.*1371G>A) c.449G>A c.151G>A n.343G>A c.498G>A (p.Leu166=) | |
9 | g.127663282G>C | CA467223002 | STXBP1 | c.465G>C (p.Leu155=) c.507G>C (p.Leu169=) c.*149G>C (n.*149G>C) c.*1371G>C (n.*1371G>C) c.449G>C c.151G>C n.343G>C c.498G>C (p.Leu166=) | |
9 | g.127663282G>T | CA467223004 | STXBP1 | c.465G>T (p.Leu155=) c.507G>T (p.Leu169=) c.*149G>T (n.*149G>T) c.*1371G>T (n.*1371G>T) c.449G>T c.151G>T n.343G>T c.498G>T (p.Leu166=) | |
9 | g.127663283G>A | CA374933055 | STXBP1 | c.466G>A (p.Glu156Lys) c.508G>A (p.Glu170Lys) c.*150G>A (n.*150G>A) c.*1372G>A (n.*1372G>A) c.450G>A c.152G>A n.344G>A c.499G>A (p.Glu167Lys) | |
9 | g.127663283G>C | CA374933056 | STXBP1 | c.466G>C (p.Glu156Gln) c.508G>C (p.Glu170Gln) c.*150G>C (n.*150G>C) c.*1372G>C (n.*1372G>C) c.450G>C c.152G>C n.344G>C c.499G>C (p.Glu167Gln) | |
9 | g.127663283G>T | CA374933057 | STXBP1 | c.466G>T (p.Glu156Ter) c.508G>T (p.Glu170Ter) c.*150G>T (n.*150G>T) c.*1372G>T (n.*1372G>T) c.450G>T c.152G>T n.344G>T c.499G>T (p.Glu167Ter) | |
9 | g.127663284A>C | CA374933058 | STXBP1 | c.467A>C (p.Glu156Ala) c.509A>C (p.Glu170Ala) c.*151A>C (n.*151A>C) c.*1373A>C (n.*1373A>C) c.451A>C c.153A>C n.345A>C c.500A>C (p.Glu167Ala) | |
9 | g.127663284A>G | CA374933059 | STXBP1 | c.467A>G (p.Glu156Gly) c.509A>G (p.Glu170Gly) c.*151A>G (n.*151A>G) c.*1373A>G (n.*1373A>G) c.451A>G c.153A>G n.345A>G c.500A>G (p.Glu167Gly) | |
9 | g.127663284A>T | CA374933060 | STXBP1 | c.467A>T (p.Glu156Val) c.509A>T (p.Glu170Val) c.*151A>T (n.*151A>T) c.*1373A>T (n.*1373A>T) c.451A>T c.153A>T n.345A>T c.500A>T (p.Glu167Val) | |
9 | g.127663284_127663286delinsAGC | CA1879908362 | STXBP1 | c.467_469delinsAGC (p.Glu156=) c.509_511delinsAGC (p.Glu170=) c.*151_*153delinsAGC (n.*151_*153delinsAGC) c.*1373_*1375delinsAGC (n.*1373_*1375delinsAGC) c.451_453delinsAGC c.153_155delinsAGC n.345_347delinsAGC c.500_502delinsAGC (p.Glu167=) | |
9 | g.127663285G>A | CA467223012 | STXBP1 | c.468G>A (p.Glu156=) c.510G>A (p.Glu170=) c.*152G>A (n.*152G>A) c.*1374G>A (n.*1374G>A) c.452G>A c.154G>A n.346G>A c.501G>A (p.Glu167=) | ClinVar dbSNP |
9 | g.127663285G>C | CA374933061 | STXBP1 | c.468G>C (p.Glu156Asp) c.510G>C (p.Glu170Asp) c.*152G>C (n.*152G>C) c.*1374G>C (n.*1374G>C) c.452G>C c.154G>C n.346G>C c.501G>C (p.Glu167Asp) | |
9 | g.127663285G= | CA1879908366 | STXBP1 | c.468G= (p.Glu156=) c.510G= (p.Glu170=) c.*152G= (n.*152G=) c.*1374G= (n.*1374G=) c.452G= c.154G= n.346G= c.501G= (p.Glu167=) | |
9 | g.127663285G>T | CA374933062 | STXBP1 | c.468G>T (p.Glu156Asp) c.510G>T (p.Glu170Asp) c.*152G>T (n.*152G>T) c.*1374G>T (n.*1374G>T) c.452G>T c.154G>T n.346G>T c.501G>T (p.Glu167Asp) | |
9 | g.127663287_127663288del | CA1139661182 | STXBP1 | c.470_471del (p.Arg157ProfsTer?) c.512_513del (p.Arg171ProfsTer?) c.*154_*155del (n.*154_*155del) c.*1376_*1377del (n.*1376_*1377del) c.454_455del c.156_157del n.348_349del c.503_504del (p.Arg168ProfsTer?) | ClinVar dbSNP |
9 | g.127663286C>A | CA374933063 | STXBP1 | c.469C>A (p.Arg157Ser) c.511C>A (p.Arg171Ser) c.*153C>A (n.*153C>A) c.*1375C>A (n.*1375C>A) c.453C>A c.155C>A n.347C>A c.502C>A (p.Arg168Ser) | |
9 | g.127663286C= | CA1879908370 | STXBP1 | c.469C= (p.Arg157=) c.511C= (p.Arg171=) c.*153C= (n.*153C=) c.*1375C= (n.*1375C=) c.453C= c.155C= n.347C= c.502C= (p.Arg168=) | |
9 | g.127663286C>G | CA374933064 | STXBP1 | c.469C>G (p.Arg157Gly) c.511C>G (p.Arg171Gly) c.*153C>G (n.*153C>G) c.*1375C>G (n.*1375C>G) c.453C>G c.155C>G n.347C>G c.502C>G (p.Arg168Gly) | |
9 | g.127663286C>T | CA5248323 | STXBP1 | c.469C>T (p.Arg157Cys) c.511C>T (p.Arg171Cys) c.*153C>T (n.*153C>T) c.*1375C>T (n.*1375C>T) c.453C>T c.155C>T n.347C>T c.502C>T (p.Arg168Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127663287G>A | CA5248324 | STXBP1 | c.470G>A (p.Arg157His) c.512G>A (p.Arg171His) c.*154G>A (n.*154G>A) c.*1376G>A (n.*1376G>A) c.454G>A c.156G>A n.348G>A c.503G>A (p.Arg168His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127663287G>C | CA374933065 | STXBP1 | c.470G>C (p.Arg157Pro) c.512G>C (p.Arg171Pro) c.*154G>C (n.*154G>C) c.*1376G>C (n.*1376G>C) c.454G>C c.156G>C n.348G>C c.503G>C (p.Arg168Pro) | |
9 | g.127663287G= | CA1879908376 | STXBP1 | c.470G= (p.Arg157=) c.512G= (p.Arg171=) c.*154G= (n.*154G=) c.*1376G= (n.*1376G=) c.454G= c.156G= n.348G= c.503G= (p.Arg168=) | |
9 | g.127663287G>T | CA374933066 | STXBP1 | c.470G>T (p.Arg157Leu) c.512G>T (p.Arg171Leu) c.*154G>T (n.*154G>T) c.*1376G>T (n.*1376G>T) c.454G>T c.156G>T n.348G>T c.503G>T (p.Arg168Leu) | |
9 | g.127663288C>A | CA467223026 | STXBP1 | c.471C>A (p.Arg157=) c.513C>A (p.Arg171=) c.*155C>A (n.*155C>A) c.*1377C>A (n.*1377C>A) c.455C>A c.157C>A n.349C>A c.504C>A (p.Arg168=) | |
9 | g.127663288C>G | CA467223028 | STXBP1 | c.471C>G (p.Arg157=) c.513C>G (p.Arg171=) c.*155C>G (n.*155C>G) c.*1377C>G (n.*1377C>G) c.455C>G c.157C>G n.349C>G c.504C>G (p.Arg168=) | |
9 | g.127663288C>T | CA467223030 | STXBP1 | c.471C>T (p.Arg157=) c.513C>T (p.Arg171=) c.*155C>T (n.*155C>T) c.*1377C>T (n.*1377C>T) c.455C>T c.157C>T n.349C>T c.504C>T (p.Arg168=) | |
9 | g.127663289C>A | CA374933067 | STXBP1 | c.472C>A (p.Leu158Met) c.514C>A (p.Leu172Met) c.*156C>A (n.*156C>A) c.*1378C>A (n.*1378C>A) c.456C>A c.158C>A n.350C>A c.505C>A (p.Leu169Met) | |
9 | g.127663289C>G | CA374933068 | STXBP1 | c.472C>G (p.Leu158Val) c.514C>G (p.Leu172Val) c.*156C>G (n.*156C>G) c.*1378C>G (n.*1378C>G) c.456C>G c.158C>G n.350C>G c.505C>G (p.Leu169Val) | |
9 | g.127663289C>T | CA467223036 | STXBP1 | c.472C>T (p.Leu158=) c.514C>T (p.Leu172=) c.*156C>T (n.*156C>T) c.*1378C>T (n.*1378C>T) c.456C>T c.158C>T n.350C>T c.505C>T (p.Leu169=) | |
9 | g.127663290T>A | CA374933069 | STXBP1 | c.473T>A (p.Leu158Gln) c.515T>A (p.Leu172Gln) c.*157T>A (n.*157T>A) c.*1379T>A (n.*1379T>A) c.457T>A c.159T>A n.351T>A c.506T>A (p.Leu169Gln) | |
9 | g.127663290T>C | CA374933070 | STXBP1 | c.473T>C (p.Leu158Pro) c.515T>C (p.Leu172Pro) c.*157T>C (n.*157T>C) c.*1379T>C (n.*1379T>C) c.457T>C c.159T>C n.351T>C c.506T>C (p.Leu169Pro) | |
9 | g.127663290T>G | CA374933071 | STXBP1 | c.473T>G (p.Leu158Arg) c.515T>G (p.Leu172Arg) c.*157T>G (n.*157T>G) c.*1379T>G (n.*1379T>G) c.457T>G c.159T>G n.351T>G c.506T>G (p.Leu169Arg) | |
9 | g.127663291G>A | CA467223047 | STXBP1 | c.474G>A (p.Leu158=) c.516G>A (p.Leu172=) c.*158G>A (n.*158G>A) c.*1380G>A (n.*1380G>A) c.458G>A c.160G>A n.352G>A c.507G>A (p.Leu169=) | |
9 | g.127663291G>C | CA467223040 | STXBP1 | c.474G>C (p.Leu158=) c.516G>C (p.Leu172=) c.*158G>C (n.*158G>C) c.*1380G>C (n.*1380G>C) c.458G>C c.160G>C n.352G>C c.507G>C (p.Leu169=) | |
9 | g.127663291G>T | CA467223044 | STXBP1 | c.474G>T (p.Leu158=) c.516G>T (p.Leu172=) c.*158G>T (n.*158G>T) c.*1380G>T (n.*1380G>T) c.458G>T c.160G>T n.352G>T c.507G>T (p.Leu169=) | |
9 | g.127663292G>A | CA374933072 | STXBP1 | c.475G>A (p.Ala159Thr) c.517G>A (p.Ala173Thr) c.*159G>A (n.*159G>A) c.*1381G>A (n.*1381G>A) c.459G>A c.161G>A n.353G>A c.508G>A (p.Ala170Thr) | |
9 | g.127663292G>C | CA374933073 | STXBP1 | c.475G>C (p.Ala159Pro) c.517G>C (p.Ala173Pro) c.*159G>C (n.*159G>C) c.*1381G>C (n.*1381G>C) c.459G>C c.161G>C n.353G>C c.508G>C (p.Ala170Pro) | |
9 | g.127663292G>T | CA374933074 | STXBP1 | c.475G>T (p.Ala159Ser) c.517G>T (p.Ala173Ser) c.*159G>T (n.*159G>T) c.*1381G>T (n.*1381G>T) c.459G>T c.161G>T n.353G>T c.508G>T (p.Ala170Ser) | |
9 | g.127663293C>A | CA374933075 | STXBP1 | c.476C>A (p.Ala159Glu) c.518C>A (p.Ala173Glu) c.*160C>A (n.*160C>A) c.*1382C>A (n.*1382C>A) c.460C>A c.162C>A n.354C>A c.509C>A (p.Ala170Glu) | |
9 | g.127663293C>G | CA374933076 | STXBP1 | c.476C>G (p.Ala159Gly) c.518C>G (p.Ala173Gly) c.*160C>G (n.*160C>G) c.*1382C>G (n.*1382C>G) c.460C>G c.162C>G n.354C>G c.509C>G (p.Ala170Gly) | |
9 | g.127663293C>T | CA374933077 | STXBP1 | c.476C>T (p.Ala159Val) c.518C>T (p.Ala173Val) c.*160C>T (n.*160C>T) c.*1382C>T (n.*1382C>T) c.460C>T c.162C>T n.354C>T c.509C>T (p.Ala170Val) | gnomAD v4 |
9 | g.127663294A>C | CA467223050 | STXBP1 | c.477A>C (p.Ala159=) c.519A>C (p.Ala173=) c.*161A>C (n.*161A>C) c.*1383A>C (n.*1383A>C) c.461A>C c.163A>C n.355A>C c.510A>C (p.Ala170=) | |
9 | g.127663294A>G | CA467223051 | STXBP1 | c.477A>G (p.Ala159=) c.519A>G (p.Ala173=) c.*161A>G (n.*161A>G) c.*1383A>G (n.*1383A>G) c.461A>G c.163A>G n.355A>G c.510A>G (p.Ala170=) | |
9 | g.127663294A>T | CA467223052 | STXBP1 | c.477A>T (p.Ala159=) c.519A>T (p.Ala173=) c.*161A>T (n.*161A>T) c.*1383A>T (n.*1383A>T) c.461A>T c.163A>T n.355A>T c.510A>T (p.Ala170=) | |
9 | g.127663295del | CA2573144050 | STXBP1 | c.478del (p.Glu160SerfsTer10) c.520del (p.Glu174SerfsTer10) c.*162del (n.*162del) c.*1384del (n.*1384del) c.462del c.164del n.356del c.511del (p.Glu171SerfsTer10) | ClinVar dbSNP |
9 | g.127663295G>A | CA374933080 | STXBP1 | c.478G>A (p.Glu160Lys) c.520G>A (p.Glu174Lys) c.*162G>A (n.*162G>A) c.*1384G>A (n.*1384G>A) c.462G>A c.164G>A n.356G>A c.511G>A (p.Glu171Lys) | |
9 | g.127663295G>C | CA374933079 | STXBP1 | c.478G>C (p.Glu160Gln) c.520G>C (p.Glu174Gln) c.*162G>C (n.*162G>C) c.*1384G>C (n.*1384G>C) c.462G>C c.164G>C n.356G>C c.511G>C (p.Glu171Gln) | |
9 | g.127663295G>T | CA374933078 | STXBP1 | c.478G>T (p.Glu160Ter) c.520G>T (p.Glu174Ter) c.*162G>T (n.*162G>T) c.*1384G>T (n.*1384G>T) c.462G>T c.164G>T n.356G>T c.511G>T (p.Glu171Ter) | |
9 | g.127663296A>C | CA374933081 | STXBP1 | c.479A>C (p.Glu160Ala) c.521A>C (p.Glu174Ala) c.*163A>C (n.*163A>C) c.*1385A>C (n.*1385A>C) c.463A>C c.165A>C n.357A>C c.512A>C (p.Glu171Ala) | |
9 | g.127663296A>G | CA374933082 | STXBP1 | c.479A>G (p.Glu160Gly) c.521A>G (p.Glu174Gly) c.*163A>G (n.*163A>G) c.*1385A>G (n.*1385A>G) c.463A>G c.165A>G n.357A>G c.512A>G (p.Glu171Gly) | |
9 | g.127663296A>T | CA374933083 | STXBP1 | c.479A>T (p.Glu160Val) c.521A>T (p.Glu174Val) c.*163A>T (n.*163A>T) c.*1385A>T (n.*1385A>T) c.463A>T c.165A>T n.357A>T c.512A>T (p.Glu171Val) | |
9 | g.127663297G>A | CA467223060 | STXBP1 | c.480G>A (p.Glu160=) c.522G>A (p.Glu174=) c.*164G>A (n.*164G>A) c.*1386G>A (n.*1386G>A) c.464G>A c.166G>A n.358G>A c.513G>A (p.Glu171=) | gnomAD v4 |
9 | g.127663297G>C | CA374933084 | STXBP1 | c.480G>C (p.Glu160Asp) c.522G>C (p.Glu174Asp) c.*164G>C (n.*164G>C) c.*1386G>C (n.*1386G>C) c.464G>C c.166G>C n.358G>C c.513G>C (p.Glu171Asp) | |
9 | g.127663297G>T | CA374933085 | STXBP1 | c.480G>T (p.Glu160Asp) c.522G>T (p.Glu174Asp) c.*164G>T (n.*164G>T) c.*1386G>T (n.*1386G>T) c.464G>T c.166G>T n.358G>T c.513G>T (p.Glu171Asp) | |
9 | g.127663298C>A | CA374933086 | STXBP1 | c.481C>A (p.Gln161Lys) c.523C>A (p.Gln175Lys) c.*165C>A (n.*165C>A) c.*1387C>A (n.*1387C>A) c.465C>A c.167C>A n.359C>A c.514C>A (p.Gln172Lys) | |
9 | g.127663298C>G | CA374933087 | STXBP1 | c.481C>G (p.Gln161Glu) c.523C>G (p.Gln175Glu) c.*165C>G (n.*165C>G) c.*1387C>G (n.*1387C>G) c.465C>G c.167C>G n.359C>G c.514C>G (p.Gln172Glu) | |
9 | g.127663298C>T | CA374933088 | STXBP1 | c.481C>T (p.Gln161Ter) c.523C>T (p.Gln175Ter) c.*165C>T (n.*165C>T) c.*1387C>T (n.*1387C>T) c.465C>T c.167C>T n.359C>T c.514C>T (p.Gln172Ter) | |
9 | g.127663299A>C | CA374933089 | STXBP1 | c.482A>C (p.Gln161Pro) c.524A>C (p.Gln175Pro) c.*166A>C (n.*166A>C) c.*1388A>C (n.*1388A>C) c.466A>C c.168A>C n.360A>C c.515A>C (p.Gln172Pro) | ClinVar |
9 | g.127663299A>G | CA374933090 | STXBP1 | c.482A>G (p.Gln161Arg) c.524A>G (p.Gln175Arg) c.*166A>G (n.*166A>G) c.*1388A>G (n.*1388A>G) c.466A>G c.168A>G n.360A>G c.515A>G (p.Gln172Arg) | |
9 | g.127663299A>T | CA374933091 | STXBP1 | c.482A>T (p.Gln161Leu) c.524A>T (p.Gln175Leu) c.*166A>T (n.*166A>T) c.*1388A>T (n.*1388A>T) c.466A>T c.168A>T n.360A>T c.515A>T (p.Gln172Leu) | |
9 | g.127663300del | CA2695211193 | STXBP1 | c.483del (p.Ile162SerfsTer8) c.525del (p.Ile176SerfsTer8) c.*167del (n.*167del) c.*1389del (n.*1389del) c.467del c.169del n.361del c.516del (p.Ile173SerfsTer8) | |
9 | g.127663300G>A | CA467223071 | STXBP1 | c.483G>A (p.Gln161=) c.525G>A (p.Gln175=) c.*167G>A (n.*167G>A) c.*1389G>A (n.*1389G>A) c.467G>A c.169G>A n.361G>A c.516G>A (p.Gln172=) | gnomAD v4 |
9 | g.127663300G>C | CA374933092 | STXBP1 | c.483G>C (p.Gln161His) c.525G>C (p.Gln175His) c.*167G>C (n.*167G>C) c.*1389G>C (n.*1389G>C) c.467G>C c.169G>C n.361G>C c.516G>C (p.Gln172His) | |
9 | g.127663300G>T | CA374933093 | STXBP1 | c.483G>T (p.Gln161His) c.525G>T (p.Gln175His) c.*167G>T (n.*167G>T) c.*1389G>T (n.*1389G>T) c.467G>T c.169G>T n.361G>T c.516G>T (p.Gln172His) | ClinVar dbSNP |
9 | g.127663301A>C | CA374933096 | STXBP1 | c.484A>C (p.Ile162Leu) c.526A>C (p.Ile176Leu) c.*168A>C (n.*168A>C) c.*1390A>C (n.*1390A>C) c.468A>C c.170A>C n.362A>C c.517A>C (p.Ile173Leu) | |
9 | g.127663301A>G | CA374933094 | STXBP1 | c.484A>G (p.Ile162Val) c.526A>G (p.Ile176Val) c.*168A>G (n.*168A>G) c.*1390A>G (n.*1390A>G) c.468A>G c.170A>G n.362A>G c.517A>G (p.Ile173Val) | |
9 | g.127663301A>T | CA374933095 | STXBP1 | c.484A>T (p.Ile162Phe) c.526A>T (p.Ile176Phe) c.*168A>T (n.*168A>T) c.*1390A>T (n.*1390A>T) c.468A>T c.170A>T n.362A>T c.517A>T (p.Ile173Phe) | ClinVar dbSNP gnomAD v4 |
9 | g.127663302T>A | CA374933097 | STXBP1 | c.485T>A (p.Ile162Asn) c.527T>A (p.Ile176Asn) c.*169T>A (n.*169T>A) c.*1391T>A (n.*1391T>A) c.469T>A c.171T>A n.363T>A c.518T>A (p.Ile173Asn) | |
9 | g.127663302T>C | CA374933098 | STXBP1 | c.485T>C (p.Ile162Thr) c.527T>C (p.Ile176Thr) c.*169T>C (n.*169T>C) c.*1391T>C (n.*1391T>C) c.469T>C c.171T>C n.363T>C c.518T>C (p.Ile173Thr) | dbSNP |
9 | g.127663302T>G | CA374933099 | STXBP1 | c.485T>G (p.Ile162Ser) c.527T>G (p.Ile176Ser) c.*169T>G (n.*169T>G) c.*1391T>G (n.*1391T>G) c.469T>G c.171T>G n.363T>G c.518T>G (p.Ile173Ser) | |
9 | g.127663302T= | CA1879908378 | STXBP1 | c.485T= (p.Ile162=) c.527T= (p.Ile176=) c.*169T= (n.*169T=) c.*1391T= (n.*1391T=) c.469T= c.171T= n.363T= c.518T= (p.Ile173=) | |
9 | g.127663303C>A | CA467223079 | STXBP1 | c.486C>A (p.Ile162=) c.528C>A (p.Ile176=) c.*170C>A (n.*170C>A) c.*1392C>A (n.*1392C>A) c.470C>A c.172C>A n.364C>A c.519C>A (p.Ile173=) | |
9 | g.127663303C= | CA1879908380 | STXBP1 | c.486C= (p.Ile162=) c.528C= (p.Ile176=) c.*170C= (n.*170C=) c.*1392C= (n.*1392C=) c.470C= c.172C= n.364C= c.519C= (p.Ile173=) | |
9 | g.127663303C>G | CA374933100 | STXBP1 | c.486C>G (p.Ile162Met) c.528C>G (p.Ile176Met) c.*170C>G (n.*170C>G) c.*1392C>G (n.*1392C>G) c.470C>G c.172C>G n.364C>G c.519C>G (p.Ile173Met) | |
9 | g.127663303C>T | CA5248325 | STXBP1 | c.486C>T (p.Ile162=) c.528C>T (p.Ile176=) c.*170C>T (n.*170C>T) c.*1392C>T (n.*1392C>T) c.470C>T c.172C>T n.364C>T c.519C>T (p.Ile173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127663304G>A | CA374933101 | STXBP1 | c.487G>A (p.Ala163Thr) c.529G>A (p.Ala177Thr) c.*171G>A (n.*171G>A) c.*1393G>A (n.*1393G>A) c.471G>A c.173G>A n.365G>A c.520G>A (p.Ala174Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.127663304G>C | CA374933102 | STXBP1 | c.487G>C (p.Ala163Pro) c.529G>C (p.Ala177Pro) c.*171G>C (n.*171G>C) c.*1393G>C (n.*1393G>C) c.471G>C c.173G>C n.365G>C c.520G>C (p.Ala174Pro) | |
9 | g.127663304G= | CA1879908382 | STXBP1 | c.487G= (p.Ala163=) c.529G= (p.Ala177=) c.*171G= (n.*171G=) c.*1393G= (n.*1393G=) c.471G= c.173G= n.365G= c.520G= (p.Ala174=) | |
9 | g.127663304G>T | CA374933103 | STXBP1 | c.487G>T (p.Ala163Ser) c.529G>T (p.Ala177Ser) c.*171G>T (n.*171G>T) c.*1393G>T (n.*1393G>T) c.471G>T c.173G>T n.365G>T c.520G>T (p.Ala174Ser) | |
9 | g.127663305C>A | CA374933104 | STXBP1 | c.488C>A (p.Ala163Glu) c.530C>A (p.Ala177Glu) c.*172C>A (n.*172C>A) c.*1394C>A (n.*1394C>A) c.472C>A c.174C>A n.366C>A c.521C>A (p.Ala174Glu) | |
9 | g.127663305C>G | CA374933105 | STXBP1 | c.488C>G (p.Ala163Gly) c.530C>G (p.Ala177Gly) c.*172C>G (n.*172C>G) c.*1394C>G (n.*1394C>G) c.472C>G c.174C>G n.366C>G c.521C>G (p.Ala174Gly) | |
9 | g.127663305C>T | CA374933106 | STXBP1 | c.488C>T (p.Ala163Val) c.530C>T (p.Ala177Val) c.*172C>T (n.*172C>T) c.*1394C>T (n.*1394C>T) c.472C>T c.174C>T n.366C>T c.521C>T (p.Ala174Val) | ClinVar gnomAD v4 |
9 | g.127663306G>A | CA16605471 | STXBP1 | c.489G>A (p.Ala163=) c.531G>A (p.Ala177=) c.*173G>A (n.*173G>A) c.*1395G>A (n.*1395G>A) c.473G>A c.175G>A n.367G>A c.522G>A (p.Ala174=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127663306G>C | CA467223087 | STXBP1 | c.489G>C (p.Ala163=) c.531G>C (p.Ala177=) c.*173G>C (n.*173G>C) c.*1395G>C (n.*1395G>C) c.473G>C c.175G>C n.367G>C c.522G>C (p.Ala174=) | |
9 | g.127663306G= | CA1879908385 | STXBP1 | c.489G= (p.Ala163=) c.531G= (p.Ala177=) c.*173G= (n.*173G=) c.*1395G= (n.*1395G=) c.473G= c.175G= n.367G= c.522G= (p.Ala174=) | |
9 | g.127663306G>T | CA467223086 | STXBP1 | c.489G>T (p.Ala163=) c.531G>T (p.Ala177=) c.*173G>T (n.*173G>T) c.*1395G>T (n.*1395G>T) c.473G>T c.175G>T n.367G>T c.522G>T (p.Ala174=) | |
9 | g.127663307A>C | CA374933109 | STXBP1 | c.490A>C (p.Thr164Pro) c.532A>C (p.Thr178Pro) c.*174A>C (n.*174A>C) c.*1396A>C (n.*1396A>C) c.474A>C c.176A>C n.368A>C c.523A>C (p.Thr175Pro) | |
9 | g.127663307A>G | CA374933108 | STXBP1 | c.490A>G (p.Thr164Ala) c.532A>G (p.Thr178Ala) c.*174A>G (n.*174A>G) c.*1396A>G (n.*1396A>G) c.474A>G c.176A>G n.368A>G c.523A>G (p.Thr175Ala) | |
9 | g.127663307A>T | CA374933107 | STXBP1 | c.490A>T (p.Thr164Ser) c.532A>T (p.Thr178Ser) c.*174A>T (n.*174A>T) c.*1396A>T (n.*1396A>T) c.474A>T c.176A>T n.368A>T c.523A>T (p.Thr175Ser) | |
9 | g.127663308C>A | CA374933110 | STXBP1 | c.491C>A (p.Thr164Asn) c.533C>A (p.Thr178Asn) c.*175C>A (n.*175C>A) c.*1397C>A (n.*1397C>A) c.475C>A c.177C>A n.369C>A c.524C>A (p.Thr175Asn) | |
9 | g.127663308C= | CA1879908390 | STXBP1 | c.491C= (p.Thr164=) c.533C= (p.Thr178=) c.*175C= (n.*175C=) c.*1397C= (n.*1397C=) c.475C= c.177C= n.369C= c.524C= (p.Thr175=) | |
9 | g.127663308C>G | CA374933112 | STXBP1 | c.491C>G (p.Thr164Ser) c.533C>G (p.Thr178Ser) c.*175C>G (n.*175C>G) c.*1397C>G (n.*1397C>G) c.475C>G c.177C>G n.369C>G c.524C>G (p.Thr175Ser) | |
9 | g.127663308C>T | CA374933111 | STXBP1 | c.491C>T (p.Thr164Ile) c.533C>T (p.Thr178Ile) c.*175C>T (n.*175C>T) c.*1397C>T (n.*1397C>T) c.475C>T c.177C>T n.369C>T c.524C>T (p.Thr175Ile) | ClinVar dbSNP |
9 | g.127663309C>A | CA467223089 | STXBP1 | c.492C>A (p.Thr164=) c.534C>A (p.Thr178=) c.*176C>A (n.*176C>A) c.*1398C>A (n.*1398C>A) c.476C>A c.178C>A n.370C>A c.525C>A (p.Thr175=) | |
9 | g.127663309C>G | CA467223091 | STXBP1 | c.492C>G (p.Thr164=) c.534C>G (p.Thr178=) c.*176C>G (n.*176C>G) c.*1398C>G (n.*1398C>G) c.476C>G c.178C>G n.370C>G c.525C>G (p.Thr175=) | |
9 | g.127663309C>T | CA467223092 | STXBP1 | c.492C>T (p.Thr164=) c.534C>T (p.Thr178=) c.*176C>T (n.*176C>T) c.*1398C>T (n.*1398C>T) c.476C>T c.178C>T n.370C>T c.525C>T (p.Thr175=) | dbSNP gnomAD v4 |
9 | g.127663310C>A | CA374933113 | STXBP1 | c.493C>A (p.Leu165Ile) c.535C>A (p.Leu179Ile) c.*177C>A (n.*177C>A) c.*1399C>A (n.*1399C>A) c.477C>A c.179C>A n.371C>A c.526C>A (p.Leu176Ile) | |
9 | g.127663310C>G | CA374933114 | STXBP1 | c.493C>G (p.Leu165Val) c.535C>G (p.Leu179Val) c.*177C>G (n.*177C>G) c.*1399C>G (n.*1399C>G) c.477C>G c.179C>G n.371C>G c.526C>G (p.Leu176Val) | |
9 | g.127663310C>T | CA374933115 | STXBP1 | c.493C>T (p.Leu165Phe) c.535C>T (p.Leu179Phe) c.*177C>T (n.*177C>T) c.*1399C>T (n.*1399C>T) c.477C>T c.179C>T n.371C>T c.526C>T (p.Leu176Phe) | |
9 | g.127663311T>A | CA374933116 | STXBP1 | c.494T>A (p.Leu165His) c.536T>A (p.Leu179His) c.*178T>A (n.*178T>A) c.*1400T>A (n.*1400T>A) c.478T>A c.180T>A n.372T>A c.527T>A (p.Leu176His) | ClinVar dbSNP |
9 | g.127663311T>C | CA374933117 | STXBP1 | c.494T>C (p.Leu165Pro) c.536T>C (p.Leu179Pro) c.*178T>C (n.*178T>C) c.*1400T>C (n.*1400T>C) c.478T>C c.180T>C n.372T>C c.527T>C (p.Leu176Pro) | |
9 | g.127663311T>G | CA374933123 | STXBP1 | c.494T>G (p.Leu165Arg) c.536T>G (p.Leu179Arg) c.*178T>G (n.*178T>G) c.*1400T>G (n.*1400T>G) c.478T>G c.180T>G n.372T>G c.527T>G (p.Leu176Arg) | |
9 | g.127663312T>A | CA467223096 | STXBP1 | c.495T>A (p.Leu165=) c.537T>A (p.Leu179=) c.*179T>A (n.*179T>A) c.*1401T>A (n.*1401T>A) c.479T>A c.181T>A n.373T>A c.528T>A (p.Leu176=) | |
9 | g.127663312T>C | CA467223097 | STXBP1 | c.495T>C (p.Leu165=) c.537T>C (p.Leu179=) c.*179T>C (n.*179T>C) c.*1401T>C (n.*1401T>C) c.479T>C c.181T>C n.373T>C c.528T>C (p.Leu176=) | |
9 | g.127663312T>G | CA467223098 | STXBP1 | c.495T>G (p.Leu165=) c.537T>G (p.Leu179=) c.*179T>G (n.*179T>G) c.*1401T>G (n.*1401T>G) c.479T>G c.181T>G n.373T>G c.528T>G (p.Leu176=) | |
9 | g.127663313T>A | CA374933125 | STXBP1 | c.496T>A (p.Cys166Ser) c.538T>A (p.Cys180Ser) c.*180T>A (n.*180T>A) c.*1402T>A (n.*1402T>A) c.480T>A c.182T>A n.374T>A c.529T>A (p.Cys177Ser) | |
9 | g.127663313T>C | CA374933127 | STXBP1 | c.496T>C (p.Cys166Arg) c.538T>C (p.Cys180Arg) c.*180T>C (n.*180T>C) c.*1402T>C (n.*1402T>C) c.480T>C c.182T>C n.374T>C c.529T>C (p.Cys177Arg) | |
9 | g.127663313T>G | CA374933128 | STXBP1 | c.496T>G (p.Cys166Gly) c.538T>G (p.Cys180Gly) c.*180T>G (n.*180T>G) c.*1402T>G (n.*1402T>G) c.480T>G c.182T>G n.374T>G c.529T>G (p.Cys177Gly) | |
9 | g.127663314G>A | CA118450 | STXBP1 | c.497G>A (p.Cys166Tyr) c.539G>A (p.Cys180Tyr) c.*181G>A (n.*181G>A) c.*1403G>A (n.*1403G>A) c.481G>A c.183G>A n.375G>A c.530G>A (p.Cys177Tyr) | ClinVar dbSNP |
9 | g.127663314G>C | CA374933131 | STXBP1 | c.497G>C (p.Cys166Ser) c.539G>C (p.Cys180Ser) c.*181G>C (n.*181G>C) c.*1403G>C (n.*1403G>C) c.481G>C c.183G>C n.375G>C c.530G>C (p.Cys177Ser) | |
9 | g.127663314G= | CA1879908395 | STXBP1 | c.497G= (p.Cys166=) c.539G= (p.Cys180=) c.*181G= (n.*181G=) c.*1403G= (n.*1403G=) c.481G= c.183G= n.375G= c.530G= (p.Cys177=) | |
9 | g.127663314G>T | CA374933134 | STXBP1 | c.497G>T (p.Cys166Phe) c.539G>T (p.Cys180Phe) c.*181G>T (n.*181G>T) c.*1403G>T (n.*1403G>T) c.481G>T c.183G>T n.375G>T c.530G>T (p.Cys177Phe) | |
9 | g.127663315T>A | CA374933137 | STXBP1 | c.498T>A (p.Cys166Ter) c.540T>A (p.Cys180Ter) c.*182T>A (n.*182T>A) c.*1404T>A (n.*1404T>A) c.482T>A c.184T>A n.376T>A c.531T>A (p.Cys177Ter) | |
9 | g.127663315T>C | CA467223109 | STXBP1 | c.498T>C (p.Cys166=) c.540T>C (p.Cys180=) c.*182T>C (n.*182T>C) c.*1404T>C (n.*1404T>C) c.482T>C c.184T>C n.376T>C c.531T>C (p.Cys177=) | |
9 | g.127663315T>G | CA374933135 | STXBP1 | c.498T>G (p.Cys166Trp) c.540T>G (p.Cys180Trp) c.*182T>G (n.*182T>G) c.*1404T>G (n.*1404T>G) c.482T>G c.184T>G n.376T>G c.531T>G (p.Cys177Trp) | |
9 | g.127663316G>A | CA5248326 | STXBP1 | c.499G>A (p.Ala167Thr) c.541G>A (p.Ala181Thr) c.*183G>A (n.*183G>A) c.*1405G>A (n.*1405G>A) c.483G>A c.185G>A n.377G>A c.532G>A (p.Ala178Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127663316G>C | CA374933138 | STXBP1 | c.499G>C (p.Ala167Pro) c.541G>C (p.Ala181Pro) c.*183G>C (n.*183G>C) c.*1405G>C (n.*1405G>C) c.483G>C c.185G>C n.377G>C c.532G>C (p.Ala178Pro) | |
9 | g.127663316G= | CA1879908397 | STXBP1 | c.499G= (p.Ala167=) c.541G= (p.Ala181=) c.*183G= (n.*183G=) c.*1405G= (n.*1405G=) c.483G= c.185G= n.377G= c.532G= (p.Ala178=) | |
9 | g.127663316G>T | CA374933140 | STXBP1 | c.499G>T (p.Ala167Ser) c.541G>T (p.Ala181Ser) c.*183G>T (n.*183G>T) c.*1405G>T (n.*1405G>T) c.483G>T c.185G>T n.377G>T c.532G>T (p.Ala178Ser) | |
9 | g.127663317C>A | CA374933142 | STXBP1 | c.500C>A (p.Ala167Asp) c.542C>A (p.Ala181Asp) c.*184C>A (n.*184C>A) c.*1406C>A (n.*1406C>A) c.484C>A c.186C>A n.378C>A c.533C>A (p.Ala178Asp) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127663317C= | CA1879908400 | STXBP1 | c.500C= (p.Ala167=) c.542C= (p.Ala181=) c.*184C= (n.*184C=) c.*1406C= (n.*1406C=) c.484C= c.186C= n.378C= c.533C= (p.Ala178=) | |
9 | g.127663317C>G | CA374933144 | STXBP1 | c.500C>G (p.Ala167Gly) c.542C>G (p.Ala181Gly) c.*184C>G (n.*184C>G) c.*1406C>G (n.*1406C>G) c.484C>G c.186C>G n.378C>G c.533C>G (p.Ala178Gly) | |
9 | g.127663317C>T | CA374933145 | STXBP1 | c.500C>T (p.Ala167Val) c.542C>T (p.Ala181Val) c.*184C>T (n.*184C>T) c.*1406C>T (n.*1406C>T) c.484C>T c.186C>T n.378C>T c.533C>T (p.Ala178Val) | gnomAD v4 |
9 | g.127663318C>A | CA467223114 | STXBP1 | c.501C>A (p.Ala167=) c.543C>A (p.Ala181=) c.*185C>A (n.*185C>A) c.*1407C>A (n.*1407C>A) c.485C>A c.187C>A n.379C>A c.534C>A (p.Ala178=) | |
9 | g.127663318C>G | CA467223115 | STXBP1 | c.501C>G (p.Ala167=) c.543C>G (p.Ala181=) c.*185C>G (n.*185C>G) c.*1407C>G (n.*1407C>G) c.485C>G c.187C>G n.379C>G c.534C>G (p.Ala178=) | |
9 | g.127663318C>T | CA467223116 | STXBP1 | c.501C>T (p.Ala167=) c.543C>T (p.Ala181=) c.*185C>T (n.*185C>T) c.*1407C>T (n.*1407C>T) c.485C>T c.187C>T n.379C>T c.534C>T (p.Ala178=) | gnomAD v4 |
9 | g.127663319A>C | CA374933146 | STXBP1 | c.502A>C (p.Thr168Pro) c.544A>C (p.Thr182Pro) c.*186A>C (n.*186A>C) c.*1408A>C (n.*1408A>C) c.486A>C c.188A>C n.380A>C c.535A>C (p.Thr179Pro) | |
9 | g.127663319A>G | CA374933148 | STXBP1 | c.502A>G (p.Thr168Ala) c.544A>G (p.Thr182Ala) c.*186A>G (n.*186A>G) c.*1408A>G (n.*1408A>G) c.486A>G c.188A>G n.380A>G c.535A>G (p.Thr179Ala) | |
9 | g.127663319A>T | CA374933161 | STXBP1 | c.502A>T (p.Thr168Ser) c.544A>T (p.Thr182Ser) c.*186A>T (n.*186A>T) c.*1408A>T (n.*1408A>T) c.486A>T c.188A>T n.380A>T c.535A>T (p.Thr179Ser) | |
9 | g.127663320C>A | CA374933164 | STXBP1 | c.503C>A (p.Thr168Asn) c.545C>A (p.Thr182Asn) c.*187C>A (n.*187C>A) c.*1409C>A (n.*1409C>A) c.487C>A c.189C>A n.381C>A c.536C>A (p.Thr179Asn) | |
9 | g.127663320C>G | CA374933166 | STXBP1 | c.503C>G (p.Thr168Ser) c.545C>G (p.Thr182Ser) c.*187C>G (n.*187C>G) c.*1409C>G (n.*1409C>G) c.487C>G c.189C>G n.381C>G c.536C>G (p.Thr179Ser) | |
9 | g.127663320C>T | CA374933169 | STXBP1 | c.503C>T (p.Thr168Ile) c.545C>T (p.Thr182Ile) c.*187C>T (n.*187C>T) c.*1409C>T (n.*1409C>T) c.487C>T c.189C>T n.381C>T c.536C>T (p.Thr179Ile) | gnomAD v4 |
9 | g.127663321C>A | CA467223125 | STXBP1 | c.504C>A (p.Thr168=) c.546C>A (p.Thr182=) c.*188C>A (n.*188C>A) c.*1410C>A (n.*1410C>A) c.488C>A c.190C>A n.382C>A c.537C>A (p.Thr179=) | |
9 | g.127663321C>G | CA467223128 | STXBP1 | c.504C>G (p.Thr168=) c.546C>G (p.Thr182=) c.*188C>G (n.*188C>G) c.*1410C>G (n.*1410C>G) c.488C>G c.190C>G n.382C>G c.537C>G (p.Thr179=) | |
9 | g.127663321C>T | CA467223126 | STXBP1 | c.504C>T (p.Thr168=) c.546C>T (p.Thr182=) c.*188C>T (n.*188C>T) c.*1410C>T (n.*1410C>T) c.488C>T c.190C>T n.382C>T c.537C>T (p.Thr179=) | |
9 | g.127663322C>A | CA374933175 | STXBP1 | c.505C>A (p.Leu169Met) c.547C>A (p.Leu183Met) c.*189C>A (n.*189C>A) c.*1411C>A (n.*1411C>A) c.489C>A c.191C>A n.383C>A c.538C>A (p.Leu180Met) | dbSNP |
9 | g.127663322C= | CA1879908404 | STXBP1 | c.505C= (p.Leu169=) c.547C= (p.Leu183=) c.*189C= (n.*189C=) c.*1411C= (n.*1411C=) c.489C= c.191C= n.383C= c.538C= (p.Leu180=) | |
9 | g.127663322C>G | CA374933173 | STXBP1 | c.505C>G (p.Leu169Val) c.547C>G (p.Leu183Val) c.*189C>G (n.*189C>G) c.*1411C>G (n.*1411C>G) c.489C>G c.191C>G n.383C>G c.538C>G (p.Leu180Val) | gnomAD v4 |
9 | g.127663322C>T | CA5248327 | STXBP1 | c.505C>T (p.Leu169=) c.547C>T (p.Leu183=) c.*189C>T (n.*189C>T) c.*1411C>T (n.*1411C>T) c.489C>T c.191C>T n.383C>T c.538C>T (p.Leu180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127663323T>A | CA374933177 | STXBP1 | c.506T>A (p.Leu169Gln) c.548T>A (p.Leu183Gln) c.*190T>A (n.*190T>A) c.*1412T>A (n.*1412T>A) c.490T>A c.192T>A n.384T>A c.539T>A (p.Leu180Gln) | |
9 | g.127663323T>C | CA247166 | STXBP1 | c.506T>C (p.Leu169Pro) c.548T>C (p.Leu183Pro) c.*190T>C (n.*190T>C) c.*1412T>C (n.*1412T>C) c.490T>C c.192T>C n.384T>C c.539T>C (p.Leu180Pro) | ClinVar dbSNP |
9 | g.127663323T>G | CA374933180 | STXBP1 | c.506T>G (p.Leu169Arg) c.548T>G (p.Leu183Arg) c.*190T>G (n.*190T>G) c.*1412T>G (n.*1412T>G) c.490T>G c.192T>G n.384T>G c.539T>G (p.Leu180Arg) | |
9 | g.127663323T= | CA1879908407 | STXBP1 | c.506T= (p.Leu169=) c.548T= (p.Leu183=) c.*190T= (n.*190T=) c.*1412T= (n.*1412T=) c.490T= c.192T= n.384T= c.539T= (p.Leu180=) | |
9 | g.127663324G>A | CA467223142 | STXBP1 | c.507G>A (p.Leu169=) c.549G>A (p.Leu183=) c.*191G>A (n.*191G>A) c.*1413G>A (n.*1413G>A) c.491G>A c.193G>A n.385G>A c.540G>A (p.Leu180=) | |
9 | g.127663324G>C | CA467223144 | STXBP1 | c.507G>C (p.Leu169=) c.549G>C (p.Leu183=) c.*191G>C (n.*191G>C) c.*1413G>C (n.*1413G>C) c.491G>C c.193G>C n.385G>C c.540G>C (p.Leu180=) | |
9 | g.127663324G>T | CA467223145 | STXBP1 | c.507G>T (p.Leu169=) c.549G>T (p.Leu183=) c.*191G>T (n.*191G>T) c.*1413G>T (n.*1413G>T) c.491G>T c.193G>T n.385G>T c.540G>T (p.Leu180=) | |
9 | g.127663325A>C | CA374933182 | STXBP1 | c.508A>C (p.Lys170Gln) c.550A>C (p.Lys184Gln) c.*192A>C (n.*192A>C) c.*1414A>C (n.*1414A>C) c.492A>C c.194A>C n.386A>C c.541A>C (p.Lys181Gln) | |
9 | g.127663325A>G | CA374933184 | STXBP1 | c.508A>G (p.Lys170Glu) c.550A>G (p.Lys184Glu) c.*192A>G (n.*192A>G) c.*1414A>G (n.*1414A>G) c.492A>G c.194A>G n.386A>G c.541A>G (p.Lys181Glu) | |
9 | g.127663325A>T | CA374933186 | STXBP1 | c.508A>T (p.Lys170Ter) c.550A>T (p.Lys184Ter) c.*192A>T (n.*192A>T) c.*1414A>T (n.*1414A>T) c.492A>T c.194A>T n.386A>T c.541A>T (p.Lys181Ter) | |
9 | g.127663326A>C | CA374933188 | STXBP1 | c.509A>C (p.Lys170Thr) c.551A>C (p.Lys184Thr) c.*193A>C (n.*193A>C) c.*1415A>C (n.*1415A>C) c.493A>C c.195A>C n.387A>C c.542A>C (p.Lys181Thr) | |
9 | g.127663326A>G | CA374933190 | STXBP1 | c.509A>G (p.Lys170Arg) c.551A>G (p.Lys184Arg) c.*193A>G (n.*193A>G) c.*1415A>G (n.*1415A>G) c.493A>G c.195A>G n.387A>G c.542A>G (p.Lys181Arg) | |
9 | g.127663326A>T | CA374933192 | STXBP1 | c.509A>T (p.Lys170Met) c.551A>T (p.Lys184Met) c.*193A>T (n.*193A>T) c.*1415A>T (n.*1415A>T) c.493A>T c.195A>T n.387A>T c.542A>T (p.Lys181Met) |