UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127661108C>A | CA374932164 | STXBP1 | c.290C>A (p.Pro97Gln) c.332C>A (p.Pro111Gln) c.355C>A (p.Gln119Lys) c.*1196C>A (n.*1196C>A) c.274C>A c.221C>A (p.Pro74Gln) c.326-3C>A (n.326-3C>A) | |
| 9 | g.127661108C>G | CA374932165 | STXBP1 | c.290C>G (p.Pro97Arg) c.332C>G (p.Pro111Arg) c.355C>G (p.Gln119Glu) c.*1196C>G (n.*1196C>G) c.274C>G c.221C>G (p.Pro74Arg) c.326-3C>G (n.326-3C>G) | |
| 9 | g.127661108C>T | CA374932167 | STXBP1 | c.290C>T (p.Pro97Leu) c.332C>T (p.Pro111Leu) c.355C>T (p.Gln119Ter) c.*1196C>T (n.*1196C>T) c.274C>T c.221C>T (p.Pro74Leu) c.326-3C>T (n.326-3C>T) | |
| 9 | g.127661109A>C | CA467221012 | STXBP1 | c.291A>C (p.Pro97=) c.333A>C (p.Pro111=) c.356A>C (p.Gln119Pro) c.*1197A>C (n.*1197A>C) c.275A>C c.222A>C (p.Pro74=) c.326-2A>C (n.326-2A>C) | |
| 9 | g.127661109A>G | CA467221015 | STXBP1 | c.291A>G (p.Pro97=) c.333A>G (p.Pro111=) c.356A>G (p.Gln119Arg) c.*1197A>G (n.*1197A>G) c.275A>G c.222A>G (p.Pro74=) c.326-2A>G (n.326-2A>G) | gnomAD v4 |
| 9 | g.127661109A>T | CA467221018 | STXBP1 | c.291A>T (p.Pro97=) c.333A>T (p.Pro111=) c.356A>T (p.Gln119Leu) c.*1197A>T (n.*1197A>T) c.275A>T c.222A>T (p.Pro74=) c.326-2A>T (n.326-2A>T) | |
| 9 | g.127661110_127661111del | CA2695211185 | STXBP1 | c.292_293del (p.Asp98CysfsTer4) c.334_335del (p.Asp112CysfsTer4) c.357_358del (p.Gln119HisfsTer?) c.*1198_*1199del (n.*1198_*1199del) c.276_277del c.223_224del (p.Asp75CysfsTer4) c.326-1_326del | |
| 9 | g.127661110G>A | CA374932169 | STXBP1 | c.292G>A (p.Asp98Asn) c.334G>A (p.Asp112Asn) c.357G>A (p.Gln119=) c.*1198G>A (n.*1198G>A) c.276G>A c.223G>A (p.Asp75Asn) c.326-1G>A (n.326-1G>A) | |
| 9 | g.127661110G>C | CA374932171 | STXBP1 | c.292G>C (p.Asp98His) c.334G>C (p.Asp112His) c.357G>C (p.Gln119His) c.*1198G>C (n.*1198G>C) c.276G>C c.223G>C (p.Asp75His) c.326-1G>C (n.326-1G>C) | ClinVar dbSNP |
| 9 | g.127661110G= | CA1879906658 | STXBP1 | c.292G= (p.Asp98=) c.334G= (p.Asp112=) c.357G= (p.Gln119=) c.*1198G= (n.*1198G=) c.276G= c.223G= (p.Asp75=) c.326-1G= (n.326-1G=) | |
| 9 | g.127661110G>T | CA374932173 | STXBP1 | c.292G>T (p.Asp98Tyr) c.334G>T (p.Asp112Tyr) c.357G>T (p.Gln119His) c.*1198G>T (n.*1198G>T) c.276G>T c.223G>T (p.Asp75Tyr) c.326-1G>T (n.326-1G>T) | |
| 9 | g.127661111A>C | CA374932175 | STXBP1 | c.293A>C (p.Asp98Ala) c.335A>C (p.Asp112Ala) c.358A>C (p.Met120Leu) c.*1199A>C (n.*1199A>C) c.277A>C c.224A>C (p.Asp75Ala) c.326A>C (p.Tyr109Ser) | |
| 9 | g.127661111A>G | CA374932179 | STXBP1 | c.293A>G (p.Asp98Gly) c.335A>G (p.Asp112Gly) c.358A>G (p.Met120Val) c.*1199A>G (n.*1199A>G) c.277A>G c.224A>G (p.Asp75Gly) c.326A>G (p.Tyr109Cys) | |
| 9 | g.127661111A>T | CA374932177 | STXBP1 | c.293A>T (p.Asp98Val) c.335A>T (p.Asp112Val) c.358A>T (p.Met120Leu) c.*1199A>T (n.*1199A>T) c.277A>T c.224A>T (p.Asp75Val) c.326A>T (p.Tyr109Phe) | |
| 9 | g.127661112T>A | CA374932181 | STXBP1 | c.294T>A (p.Asp98Glu) c.336T>A (p.Asp112Glu) c.359T>A (p.Met120Lys) c.*1200T>A (n.*1200T>A) c.278T>A c.225T>A (p.Asp75Glu) c.327T>A (p.Tyr109Ter) | |
| 9 | g.127661112T>C | CA467221030 | STXBP1 | c.294T>C (p.Asp98=) c.336T>C (p.Asp112=) c.359T>C (p.Met120Thr) c.*1200T>C (n.*1200T>C) c.278T>C c.225T>C (p.Asp75=) c.327T>C (p.Tyr109=) | |
| 9 | g.127661112T>G | CA374932183 | STXBP1 | c.294T>G (p.Asp98Glu) c.336T>G (p.Asp112Glu) c.359T>G (p.Met120Arg) c.*1200T>G (n.*1200T>G) c.278T>G c.225T>G (p.Asp75Glu) c.327T>G (p.Tyr109Ter) | |
| 9 | g.127661113G>A | CA5248301 | STXBP1 | c.295G>A (p.Ala99Thr) c.337G>A (p.Ala113Thr) c.360G>A (p.Met120Ile) c.*1201G>A (n.*1201G>A) c.279G>A c.226G>A (p.Ala76Thr) c.328G>A (p.Ala110Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127661113G>C | CA374932187 | STXBP1 | c.295G>C (p.Ala99Pro) c.337G>C (p.Ala113Pro) c.360G>C (p.Met120Ile) c.*1201G>C (n.*1201G>C) c.279G>C c.226G>C (p.Ala76Pro) c.328G>C (p.Ala110Pro) | |
| 9 | g.127661113G= | CA1879906662 | STXBP1 | c.295G= (p.Ala99=) c.337G= (p.Ala113=) c.360G= (p.Met120=) c.*1201G= (n.*1201G=) c.279G= c.226G= (p.Ala76=) c.328G= (p.Ala110=) | |
| 9 | g.127661113G>T | CA374932185 | STXBP1 | c.295G>T (p.Ala99Ser) c.337G>T (p.Ala113Ser) c.360G>T (p.Met120Ile) c.*1201G>T (n.*1201G>T) c.279G>T c.226G>T (p.Ala76Ser) c.328G>T (p.Ala110Ser) | gnomAD v4 |
| 9 | g.127661114C>A | CA374932189 | STXBP1 | c.296C>A (p.Ala99Asp) c.338C>A (p.Ala113Asp) c.361C>A (p.Pro121Thr) c.*1202C>A (n.*1202C>A) c.280C>A c.227C>A (p.Ala76Asp) c.329C>A (p.Ala110Asp) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127661114C= | CA1879906665 | STXBP1 | c.296C= (p.Ala99=) c.338C= (p.Ala113=) c.361C= (p.Pro121=) c.*1202C= (n.*1202C=) c.280C= c.227C= (p.Ala76=) c.329C= (p.Ala110=) | |
| 9 | g.127661114C>G | CA374932191 | STXBP1 | c.296C>G (p.Ala99Gly) c.338C>G (p.Ala113Gly) c.361C>G (p.Pro121Ala) c.*1202C>G (n.*1202C>G) c.280C>G c.227C>G (p.Ala76Gly) c.329C>G (p.Ala110Gly) | |
| 9 | g.127661114C>T | CA374932193 | STXBP1 | c.296C>T (p.Ala99Val) c.338C>T (p.Ala113Val) c.361C>T (p.Pro121Ser) c.*1202C>T (n.*1202C>T) c.280C>T c.227C>T (p.Ala76Val) c.329C>T (p.Ala110Val) | COSMIC COSMIC |
| 9 | g.127661115C>A | CA467221065 | STXBP1 | c.297C>A (p.Ala99=) c.339C>A (p.Ala113=) c.362C>A (p.Pro121His) c.*1203C>A (n.*1203C>A) c.281C>A c.228C>A (p.Ala76=) c.330C>A (p.Ala110=) | dbSNP |
| 9 | g.127661115C= | CA1879906668 | STXBP1 | c.297C= (p.Ala99=) c.339C= (p.Ala113=) c.362C= (p.Pro121=) c.*1203C= (n.*1203C=) c.281C= c.228C= (p.Ala76=) c.330C= (p.Ala110=) | |
| 9 | g.127661115C>G | CA467221059 | STXBP1 | c.297C>G (p.Ala99=) c.339C>G (p.Ala113=) c.362C>G (p.Pro121Arg) c.*1203C>G (n.*1203C>G) c.281C>G c.228C>G (p.Ala76=) c.330C>G (p.Ala110=) | |
| 9 | g.127661115C>T | CA467221063 | STXBP1 | c.297C>T (p.Ala99=) c.339C>T (p.Ala113=) c.362C>T (p.Pro121Leu) c.*1203C>T (n.*1203C>T) c.281C>T c.228C>T (p.Ala76=) c.330C>T (p.Ala110=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127661116C>A | CA374932195 | STXBP1 | c.298C>A (p.Leu100Met) c.340C>A (p.Leu114Met) c.363C>A (p.Pro121=) c.*1204C>A (n.*1204C>A) c.282C>A c.229C>A (p.Leu77Met) c.331C>A (p.Leu111Met) | |
| 9 | g.127661116C= | CA1879906670 | STXBP1 | c.298C= (p.Leu100=) c.340C= (p.Leu114=) c.363C= (p.Pro121=) c.*1204C= (n.*1204C=) c.282C= c.229C= (p.Leu77=) c.331C= (p.Leu111=) | |
| 9 | g.127661116C>G | CA374932196 | STXBP1 | c.298C>G (p.Leu100Val) c.340C>G (p.Leu114Val) c.363C>G (p.Pro121=) c.*1204C>G (n.*1204C>G) c.282C>G c.229C>G (p.Leu77Val) c.331C>G (p.Leu111Val) | |
| 9 | g.127661116C>T | CA467221069 | STXBP1 | c.298C>T (p.Leu100=) c.340C>T (p.Leu114=) c.363C>T (p.Pro121=) c.*1204C>T (n.*1204C>T) c.282C>T c.229C>T (p.Leu77=) c.331C>T (p.Leu111=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127661117T>A | CA374932198 | STXBP1 | c.299T>A (p.Leu100Gln) c.341T>A (p.Leu114Gln) c.364T>A (p.Cys122Ser) c.*1205T>A (n.*1205T>A) c.283T>A c.230T>A (p.Leu77Gln) c.332T>A (p.Leu111Gln) | |
| 9 | g.127661117T>C | CA374932200 | STXBP1 | c.299T>C (p.Leu100Pro) c.341T>C (p.Leu114Pro) c.364T>C (p.Cys122Arg) c.*1205T>C (n.*1205T>C) c.283T>C c.230T>C (p.Leu77Pro) c.332T>C (p.Leu111Pro) | |
| 9 | g.127661117T>G | CA374932202 | STXBP1 | c.299T>G (p.Leu100Arg) c.341T>G (p.Leu114Arg) c.364T>G (p.Cys122Gly) c.*1205T>G (n.*1205T>G) c.283T>G c.230T>G (p.Leu77Arg) c.332T>G (p.Leu111Arg) | |
| 9 | g.127661118G>A | CA467221079 | STXBP1 | c.300G>A (p.Leu100=) c.342G>A (p.Leu114=) c.365G>A (p.Cys122Tyr) c.*1206G>A (n.*1206G>A) c.284G>A c.231G>A (p.Leu77=) c.333G>A (p.Leu111=) | |
| 9 | g.127661118G>C | CA467221080 | STXBP1 | c.300G>C (p.Leu100=) c.342G>C (p.Leu114=) c.365G>C (p.Cys122Ser) c.*1206G>C (n.*1206G>C) c.284G>C c.231G>C (p.Leu77=) c.333G>C (p.Leu111=) | |
| 9 | g.127661118G= | CA1879906671 | STXBP1 | c.300G= (p.Leu100=) c.342G= (p.Leu114=) c.365G= (p.Cys122=) c.*1206G= (n.*1206G=) c.284G= c.231G= (p.Leu77=) c.333G= (p.Leu111=) | |
| 9 | g.127661118G>T | CA5248302 | STXBP1 | c.300G>T (p.Leu100=) c.342G>T (p.Leu114=) c.365G>T (p.Cys122Phe) c.*1206G>T (n.*1206G>T) c.284G>T c.231G>T (p.Leu77=) c.333G>T (p.Leu111=) | dbSNP ExAC gnomAD v4 |
| 9 | g.127661118_127661119delinsGT | CA1879906672 | STXBP1 | c.300_301delinsGT (p.Leu100=) c.342_343delinsGT (p.Leu114=) c.365_366delinsGT (p.Cys122=) c.*1206_*1207delinsGT (n.*1206_*1207delinsGT) c.284_285delinsGT c.231_232delinsGT (p.Leu77=) c.333_334delinsGT (p.Leu111=) | |
| 9 | g.127661119T>A | CA374932205 | STXBP1 | c.301T>A (p.Phe101Ile) c.343T>A (p.Phe115Ile) c.366T>A (p.Cys122Ter) c.*1207T>A (n.*1207T>A) c.285T>A c.232T>A (p.Phe78Ile) c.334T>A (p.Phe112Ile) | |
| 9 | g.127661119T>C | CA374932207 | STXBP1 | c.301T>C (p.Phe101Leu) c.343T>C (p.Phe115Leu) c.366T>C (p.Cys122=) c.*1207T>C (n.*1207T>C) c.285T>C c.232T>C (p.Phe78Leu) c.334T>C (p.Phe112Leu) | |
| 9 | g.127661119T>G | CA374932209 | STXBP1 | c.301T>G (p.Phe101Val) c.343T>G (p.Phe115Val) c.366T>G (p.Cys122Trp) c.*1207T>G (n.*1207T>G) c.285T>G c.232T>G (p.Phe78Val) c.334T>G (p.Phe112Val) | |
| 9 | g.127661121del | CA891843328 | STXBP1 | c.303del (p.Phe101LeufsTer5) c.345del (p.Phe115LeufsTer5) c.368del (p.Leu123Ter) c.*1209del (n.*1209del) c.287del c.234del (p.Phe78LeufsTer5) c.303del (p.Phe101LeufsTer?) c.336del (p.Phe112LeufsTer5) | ClinVar dbSNP |
| 9 | g.127661120T>A | CA374932211 | STXBP1 | c.302T>A (p.Phe101Tyr) c.344T>A (p.Phe115Tyr) c.367T>A (p.Leu123Ile) c.*1208T>A (n.*1208T>A) c.286T>A c.233T>A (p.Phe78Tyr) c.335T>A (p.Phe112Tyr) | |
| 9 | g.127661120T>C | CA374932214 | STXBP1 | c.302T>C (p.Phe101Ser) c.344T>C (p.Phe115Ser) c.367T>C (p.Leu123=) c.*1208T>C (n.*1208T>C) c.286T>C c.233T>C (p.Phe78Ser) c.335T>C (p.Phe112Ser) | |
| 9 | g.127661120T>G | CA374932213 | STXBP1 | c.302T>G (p.Phe101Cys) c.344T>G (p.Phe115Cys) c.367T>G (p.Leu123Val) c.*1208T>G (n.*1208T>G) c.286T>G c.233T>G (p.Phe78Cys) c.335T>G (p.Phe112Cys) | |
| 9 | g.127661121T>A | CA374932216 | STXBP1 | c.303T>A (p.Phe101Leu) c.345T>A (p.Phe115Leu) c.368T>A (p.Leu123Ter) c.*1209T>A (n.*1209T>A) c.287T>A c.234T>A (p.Phe78Leu) c.336T>A (p.Phe112Leu) | |
| 9 | g.127661121T>C | CA467221095 | STXBP1 | c.303T>C (p.Phe101=) c.345T>C (p.Phe115=) c.368T>C (p.Leu123Ser) c.*1209T>C (n.*1209T>C) c.287T>C c.234T>C (p.Phe78=) c.336T>C (p.Phe112=) | gnomAD v4 |
| 9 | g.127661121T>G | CA374932218 | STXBP1 | c.303T>G (p.Phe101Leu) c.345T>G (p.Phe115Leu) c.368T>G (p.Leu123Ter) c.*1209T>G (n.*1209T>G) c.287T>G c.234T>G (p.Phe78Leu) c.336T>G (p.Phe112Leu) | |
| 9 | g.127661122A>C | CA374932220 | STXBP1 | c.304A>C (p.Asn102His) c.346A>C (p.Asn116His) c.369A>C (p.Leu123Phe) c.*1210A>C (n.*1210A>C) c.288A>C c.235A>C (p.Asn79His) c.337A>C (p.Asn113His) | |
| 9 | g.127661122A>G | CA374932221 | STXBP1 | c.304A>G (p.Asn102Asp) c.346A>G (p.Asn116Asp) c.369A>G (p.Leu123=) c.*1210A>G (n.*1210A>G) c.288A>G c.235A>G (p.Asn79Asp) c.337A>G (p.Asn113Asp) | |
| 9 | g.127661122A>T | CA374932222 | STXBP1 | c.304A>T (p.Asn102Tyr) c.346A>T (p.Asn116Tyr) c.369A>T (p.Leu123Phe) c.*1210A>T (n.*1210A>T) c.288A>T c.235A>T (p.Asn79Tyr) c.337A>T (p.Asn113Tyr) | |
| 9 | g.127661124_127661127dup | CA2695211186 | STXBP1 | c.306_309dup (p.Leu104Ter) c.348_351dup (p.Leu118Ter) c.371_374dup (p.Trp126GlufsTer?) c.*1212_*1215dup (n.*1212_*1215dup) c.290_293dup c.237_240dup (p.Leu81Ter) c.339_342dup (p.Leu115Ter) | |
| 9 | g.127661123A>C | CA374932224 | STXBP1 | c.305A>C (p.Asn102Thr) c.347A>C (p.Asn116Thr) c.370A>C (p.Met124Leu) c.*1211A>C (n.*1211A>C) c.289A>C c.236A>C (p.Asn79Thr) c.338A>C (p.Asn113Thr) | |
| 9 | g.127661123A>G | CA374932225 | STXBP1 | c.305A>G (p.Asn102Ser) c.347A>G (p.Asn116Ser) c.370A>G (p.Met124Val) c.*1211A>G (n.*1211A>G) c.289A>G c.236A>G (p.Asn79Ser) c.338A>G (p.Asn113Ser) | |
| 9 | g.127661123A>T | CA374932226 | STXBP1 | c.305A>T (p.Asn102Ile) c.347A>T (p.Asn116Ile) c.370A>T (p.Met124Leu) c.*1211A>T (n.*1211A>T) c.289A>T c.236A>T (p.Asn79Ile) c.338A>T (p.Asn113Ile) | |
| 9 | g.127661124T>A | CA374932228 | STXBP1 | c.306T>A (p.Asn102Lys) c.348T>A (p.Asn116Lys) c.371T>A (p.Met124Lys) c.*1212T>A (n.*1212T>A) c.290T>A c.237T>A (p.Asn79Lys) c.339T>A (p.Asn113Lys) | |
| 9 | g.127661124T>C | CA467221120 | STXBP1 | c.306T>C (p.Asn102=) c.348T>C (p.Asn116=) c.371T>C (p.Met124Thr) c.*1212T>C (n.*1212T>C) c.290T>C c.237T>C (p.Asn79=) c.339T>C (p.Asn113=) | |
| 9 | g.127661124T>G | CA374932230 | STXBP1 | c.306T>G (p.Asn102Lys) c.348T>G (p.Asn116Lys) c.371T>G (p.Met124Arg) c.*1212T>G (n.*1212T>G) c.290T>G c.237T>G (p.Asn79Lys) c.339T>G (p.Asn113Lys) | |
| 9 | g.127661125G>A | CA374932234 | STXBP1 | c.307G>A (p.Glu103Lys) c.349G>A (p.Glu117Lys) c.372G>A (p.Met124Ile) c.*1213G>A (n.*1213G>A) c.291G>A c.238G>A (p.Glu80Lys) c.307G>A c.340G>A (p.Glu114Lys) | dbSNP |
| 9 | g.127661125G>C | CA374932236 | STXBP1 | c.307G>C (p.Glu103Gln) c.349G>C (p.Glu117Gln) c.372G>C (p.Met124Ile) c.*1213G>C (n.*1213G>C) c.291G>C c.238G>C (p.Glu80Gln) c.307G>C c.340G>C (p.Glu114Gln) | |
| 9 | g.127661125G= | CA1879906676 | STXBP1 | c.307G= (p.Glu103=) c.349G= (p.Glu117=) c.372G= (p.Met124=) c.*1213G= (n.*1213G=) c.291G= c.238G= (p.Glu80=) c.307G= c.340G= (p.Glu114=) | |
| 9 | g.127661125G>T | CA374932232 | STXBP1 | c.307G>T (p.Glu103Ter) c.349G>T (p.Glu117Ter) c.372G>T (p.Met124Ile) c.*1213G>T (n.*1213G>T) c.291G>T c.238G>T (p.Glu80Ter) c.307G>T c.340G>T (p.Glu114Ter) | |
| 9 | g.127661126A>C | CA374932238 | STXBP1 | c.308A>C (p.Glu103Ala) c.350A>C (p.Glu117Ala) c.373A>C (p.Asn125His) c.*1214A>C (n.*1214A>C) c.292A>C c.239A>C (p.Glu80Ala) c.308A>C c.341A>C (p.Glu114Ala) | |
| 9 | g.127661126A>G | CA374932240 | STXBP1 | c.308A>G (p.Glu103Gly) c.350A>G (p.Glu117Gly) c.373A>G (p.Asn125Asp) c.*1214A>G (n.*1214A>G) c.292A>G c.239A>G (p.Glu80Gly) c.308A>G c.341A>G (p.Glu114Gly) | |
| 9 | g.127661126A>T | CA374932242 | STXBP1 | c.308A>T (p.Glu103Val) c.350A>T (p.Glu117Val) c.373A>T (p.Asn125Tyr) c.*1214A>T (n.*1214A>T) c.292A>T c.239A>T (p.Glu80Val) c.308A>T c.341A>T (p.Glu114Val) | |
| 9 | g.127661127A= | CA1879906678 | STXBP1 | c.309A= (p.Glu103=) c.351A= (p.Glu117=) c.374A= (p.Asn125=) c.*1215A= (n.*1215A=) c.293A= c.240A= (p.Glu80=) c.342A= (p.Glu114=) | |
| 9 | g.127661127A>C | CA374932244 | STXBP1 | c.309A>C (p.Glu103Asp) c.351A>C (p.Glu117Asp) c.374A>C (p.Asn125Thr) c.*1215A>C (n.*1215A>C) c.293A>C c.240A>C (p.Glu80Asp) c.342A>C (p.Glu114Asp) | |
| 9 | g.127661127A>G | CA467221144 | STXBP1 | c.309A>G (p.Glu103=) c.351A>G (p.Glu117=) c.374A>G (p.Asn125Ser) c.*1215A>G (n.*1215A>G) c.293A>G c.240A>G (p.Glu80=) c.342A>G (p.Glu114=) | dbSNP |
| 9 | g.127661127A>T | CA374932246 | STXBP1 | c.309A>T (p.Glu103Asp) c.351A>T (p.Glu117Asp) c.374A>T (p.Asn125Ile) c.*1215A>T (n.*1215A>T) c.293A>T c.240A>T (p.Glu80Asp) c.342A>T (p.Glu114Asp) | |
| 9 | g.127661128C>A | CA374932248 | STXBP1 | c.310C>A (p.Leu104Met) c.352C>A (p.Leu118Met) c.375C>A (p.Asn125Lys) c.*1216C>A (n.*1216C>A) c.294C>A c.241C>A (p.Leu81Met) c.343C>A (p.Leu115Met) | |
| 9 | g.127661128C>G | CA374932250 | STXBP1 | c.310C>G (p.Leu104Val) c.352C>G (p.Leu118Val) c.375C>G (p.Asn125Lys) c.*1216C>G (n.*1216C>G) c.294C>G c.241C>G (p.Leu81Val) c.343C>G (p.Leu115Val) | gnomAD v4 |
| 9 | g.127661128C>T | CA467221148 | STXBP1 | c.310C>T (p.Leu104=) c.352C>T (p.Leu118=) c.375C>T (p.Asn125=) c.*1216C>T (n.*1216C>T) c.294C>T c.241C>T (p.Leu81=) c.343C>T (p.Leu115=) | |
| 9 | g.127661129T>A | CA374932252 | STXBP1 | c.311T>A (p.Leu104Gln) c.353T>A (p.Leu118Gln) c.376T>A (p.Trp126Arg) c.*1217T>A (n.*1217T>A) c.295T>A c.242T>A (p.Leu81Gln) c.344T>A (p.Leu115Gln) | |
| 9 | g.127661129T>C | CA374932254 | STXBP1 | c.311T>C (p.Leu104Pro) c.353T>C (p.Leu118Pro) c.376T>C (p.Trp126Arg) c.*1217T>C (n.*1217T>C) c.295T>C c.242T>C (p.Leu81Pro) c.344T>C (p.Leu115Pro) | ClinVar dbSNP |
| 9 | g.127661129T>G | CA374932256 | STXBP1 | c.311T>G (p.Leu104Arg) c.353T>G (p.Leu118Arg) c.376T>G (p.Trp126Gly) c.*1217T>G (n.*1217T>G) c.295T>G c.242T>G (p.Leu81Arg) c.344T>G (p.Leu115Arg) | |
| 9 | g.127661129T= | CA1879906680 | STXBP1 | c.311T= (p.Leu104=) c.353T= (p.Leu118=) c.376T= (p.Trp126=) c.*1217T= (n.*1217T=) c.295T= c.242T= (p.Leu81=) c.344T= (p.Leu115=) | |
| 9 | g.127661130G>A | CA467221153 | STXBP1 | c.312G>A (p.Leu104=) c.354G>A (p.Leu118=) c.377G>A (p.Trp126Ter) c.*1218G>A (n.*1218G>A) c.296G>A c.243G>A (p.Leu81=) c.345G>A (p.Leu115=) | gnomAD v4 |
| 9 | g.127661130G>C | CA467221156 | STXBP1 | c.312G>C (p.Leu104=) c.354G>C (p.Leu118=) c.377G>C (p.Trp126Ser) c.*1218G>C (n.*1218G>C) c.296G>C c.243G>C (p.Leu81=) c.345G>C (p.Leu115=) | |
| 9 | g.127661130G>T | CA467221159 | STXBP1 | c.312G>T (p.Leu104=) c.354G>T (p.Leu118=) c.377G>T (p.Trp126Leu) c.*1218G>T (n.*1218G>T) c.296G>T c.243G>T (p.Leu81=) c.345G>T (p.Leu115=) | |
| 9 | g.127661131G>A | CA374932258 | STXBP1 | c.313G>A (p.Val105Ile) c.355G>A (p.Val119Ile) c.378G>A (p.Trp126Ter) c.*1219G>A (n.*1219G>A) c.297G>A c.244G>A (p.Val82Ile) c.346G>A (p.Val116Ile) | |
| 9 | g.127661131G>C | CA374932260 | STXBP1 | c.313G>C (p.Val105Leu) c.355G>C (p.Val119Leu) c.378G>C (p.Trp126Cys) c.*1219G>C (n.*1219G>C) c.297G>C c.244G>C (p.Val82Leu) c.346G>C (p.Val116Leu) | |
| 9 | g.127661131G>T | CA374932262 | STXBP1 | c.313G>T (p.Val105Leu) c.355G>T (p.Val119Leu) c.378G>T (p.Trp126Cys) c.*1219G>T (n.*1219G>T) c.297G>T c.244G>T (p.Val82Leu) c.346G>T (p.Val116Leu) | gnomAD v4 |
| 9 | g.127661132T>A | CA374932269 | STXBP1 | c.314T>A (p.Val105Glu) c.356T>A (p.Val119Glu) c.379T>A (p.Ter127Lys) c.*1220T>A (n.*1220T>A) c.298T>A c.245T>A (p.Val82Glu) c.347T>A (p.Val116Glu) | |
| 9 | g.127661132T>C | CA374932267 | STXBP1 | c.314T>C (p.Val105Ala) c.356T>C (p.Val119Ala) c.379T>C (p.Ter127Gln) c.*1220T>C (n.*1220T>C) c.298T>C c.245T>C (p.Val82Ala) c.347T>C (p.Val116Ala) | |
| 9 | g.127661132T>G | CA374932265 | STXBP1 | c.314T>G (p.Val105Gly) c.356T>G (p.Val119Gly) c.379T>G (p.Ter127Glu) c.*1220T>G (n.*1220T>G) c.298T>G c.245T>G (p.Val82Gly) c.347T>G (p.Val116Gly) | |
| 9 | g.127661132_127661133delinsTA | CA1879906681 | STXBP1 | c.314_315delinsTA (p.Val105=) c.356_357delinsTA (p.Val119=) c.379_380delinsTA (p.Ter127=) c.*1220_*1221delinsTA (n.*1220_*1221delinsTA) c.298_299delinsTA c.245_246delinsTA (p.Val82=) c.347_348delinsTA (p.Val116=) | |
| 9 | g.127661133A>C | CA467221167 | STXBP1 | c.315A>C (p.Val105=) c.357A>C (p.Val119=) c.380A>C (p.Ter127Ser) c.*1221A>C (n.*1221A>C) c.299A>C c.1A>C c.246A>C (p.Val82=) c.348A>C (p.Val116=) | |
| 9 | g.127661133A>G | CA467221173 | STXBP1 | c.315A>G (p.Val105=) c.357A>G (p.Val119=) c.380A>G (p.Ter127=) c.*1221A>G (n.*1221A>G) c.299A>G c.1A>G c.246A>G (p.Val82=) c.348A>G (p.Val116=) | |
| 9 | g.127661133A>T | CA467221175 | STXBP1 | c.315A>T (p.Val105=) c.357A>T (p.Val119=) c.380A>T (p.Ter127Leu) c.*1221A>T (n.*1221A>T) c.299A>T c.1A>T c.246A>T (p.Val82=) c.348A>T (p.Val116=) | |
| 9 | g.127661136dup | CA2695211187 | STXBP1 | c.318dup (p.Ser107IlefsTer21) c.360dup (p.Ser121IlefsTer21) c.*2dup (n.*2dup) c.*1224dup (n.*1224dup) c.302dup c.4dup c.249dup (p.Ser84IlefsTer?) c.351dup (p.Ser118IlefsTer21) | |
| 9 | g.127661136del | CA658797268 | STXBP1 | c.318del (p.Lys106AsnfsTer11) c.360del (p.Lys120AsnfsTer11) c.*2del (n.*2del) c.*1224del (n.*1224del) c.302del c.4del c.249del (p.Lys83AsnfsTer11) c.351del (p.Lys117AsnfsTer11) | ClinVar dbSNP |
| 9 | g.127661134A>C | CA374932271 | STXBP1 | c.316A>C (p.Lys106Gln) c.358A>C (p.Lys120Gln) c.381A>C (p.Ter127Tyr) c.*1222A>C (n.*1222A>C) c.300A>C c.2A>C c.247A>C (p.Lys83Gln) c.349A>C (p.Lys117Gln) | |
| 9 | g.127661134A>G | CA374932273 | STXBP1 | c.316A>G (p.Lys106Glu) c.358A>G (p.Lys120Glu) c.381A>G (p.Ter127=) c.*1222A>G (n.*1222A>G) c.300A>G c.2A>G c.247A>G (p.Lys83Glu) c.349A>G (p.Lys117Glu) | |
| 9 | g.127661134A>T | CA374932275 | STXBP1 | c.316A>T (p.Lys106Ter) c.358A>T (p.Lys120Ter) c.381A>T (p.Ter127Tyr) c.*1222A>T (n.*1222A>T) c.300A>T c.2A>T c.247A>T (p.Lys83Ter) c.349A>T (p.Lys117Ter) | |
| 9 | g.127661135A>C | CA374932277 | STXBP1 | c.317A>C (p.Lys106Thr) c.359A>C (p.Lys120Thr) c.*1A>C (n.*1A>C) c.*1223A>C (n.*1223A>C) c.301A>C c.3A>C c.248A>C (p.Lys83Thr) c.350A>C (p.Lys117Thr) | |
| 9 | g.127661135A>G | CA374932279 | STXBP1 | c.317A>G (p.Lys106Arg) c.359A>G (p.Lys120Arg) c.*1A>G (n.*1A>G) c.*1223A>G (n.*1223A>G) c.301A>G c.3A>G c.248A>G (p.Lys83Arg) c.350A>G (p.Lys117Arg) | |
| 9 | g.127661135A>T | CA374932281 | STXBP1 | c.317A>T (p.Lys106Ile) c.359A>T (p.Lys120Ile) c.*1A>T (n.*1A>T) c.*1223A>T (n.*1223A>T) c.301A>T c.3A>T c.248A>T (p.Lys83Ile) c.350A>T (p.Lys117Ile) | |
| 9 | g.127661136A= | CA1879906689 | STXBP1 | c.318A= (p.Lys106=) c.360A= (p.Lys120=) c.*2A= (n.*2A=) c.*1224A= (n.*1224A=) c.302A= c.4A= c.249A= (p.Lys83=) c.351A= (p.Lys117=) | |
| 9 | g.127661136A>C | CA374932283 | STXBP1 | c.318A>C (p.Lys106Asn) c.360A>C (p.Lys120Asn) c.*2A>C (n.*2A>C) c.*1224A>C (n.*1224A>C) c.302A>C c.4A>C c.249A>C (p.Lys83Asn) c.351A>C (p.Lys117Asn) | |
| 9 | g.127661136A>G | CA5248303 | STXBP1 | c.318A>G (p.Lys106=) c.360A>G (p.Lys120=) c.*2A>G (n.*2A>G) c.*1224A>G (n.*1224A>G) c.302A>G c.4A>G c.249A>G (p.Lys83=) c.351A>G (p.Lys117=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127661136A>T | CA374932286 | STXBP1 | c.318A>T (p.Lys106Asn) c.360A>T (p.Lys120Asn) c.*2A>T (n.*2A>T) c.*1224A>T (n.*1224A>T) c.302A>T c.4A>T c.249A>T (p.Lys83Asn) c.351A>T (p.Lys117Asn) | |
| 9 | g.127661137T>A | CA374932289 | STXBP1 | c.319T>A (p.Ser107Thr) c.361T>A (p.Ser121Thr) c.*3T>A (n.*3T>A) c.*1225T>A (n.*1225T>A) c.303T>A c.5T>A c.250T>A (p.Ser84Thr) c.352T>A (p.Ser118Thr) | |
| 9 | g.127661137T>C | CA374932290 | STXBP1 | c.319T>C (p.Ser107Pro) c.361T>C (p.Ser121Pro) c.*3T>C (n.*3T>C) c.*1225T>C (n.*1225T>C) c.303T>C c.5T>C c.250T>C (p.Ser84Pro) c.352T>C (p.Ser118Pro) | ClinVar |
| 9 | g.127661137T>G | CA374932292 | STXBP1 | c.319T>G (p.Ser107Ala) c.361T>G (p.Ser121Ala) c.*3T>G (n.*3T>G) c.*1225T>G (n.*1225T>G) c.303T>G c.5T>G c.250T>G (p.Ser84Ala) c.352T>G (p.Ser118Ala) | |
| 9 | g.127661138C>A | CA374932304 | STXBP1 | c.320C>A (p.Ser107Tyr) c.362C>A (p.Ser121Tyr) c.*4C>A (n.*4C>A) c.*1226C>A (n.*1226C>A) c.304C>A c.6C>A c.251C>A (p.Ser84Tyr) c.353C>A (p.Ser118Tyr) | |
| 9 | g.127661138C>G | CA374932295 | STXBP1 | c.320C>G (p.Ser107Cys) c.362C>G (p.Ser121Cys) c.*4C>G (n.*4C>G) c.*1226C>G (n.*1226C>G) c.304C>G c.6C>G c.251C>G (p.Ser84Cys) c.353C>G (p.Ser118Cys) | |
| 9 | g.127661138C>T | CA374932293 | STXBP1 | c.320C>T (p.Ser107Phe) c.362C>T (p.Ser121Phe) c.*4C>T (n.*4C>T) c.*1226C>T (n.*1226C>T) c.304C>T c.6C>T c.251C>T (p.Ser84Phe) c.353C>T (p.Ser118Phe) | |
| 9 | g.127661139C>A | CA467221211 | STXBP1 | c.321C>A (p.Ser107=) c.363C>A (p.Ser121=) c.*5C>A (n.*5C>A) c.*1227C>A (n.*1227C>A) c.305C>A c.7C>A c.252C>A (p.Ser84=) c.354C>A (p.Ser118=) | |
| 9 | g.127661139C>G | CA467221213 | STXBP1 | c.321C>G (p.Ser107=) c.363C>G (p.Ser121=) c.*5C>G (n.*5C>G) c.*1227C>G (n.*1227C>G) c.305C>G c.7C>G c.252C>G (p.Ser84=) c.354C>G (p.Ser118=) | |
| 9 | g.127661139C>T | CA467221214 | STXBP1 | c.321C>T (p.Ser107=) c.363C>T (p.Ser121=) c.*5C>T (n.*5C>T) c.*1227C>T (n.*1227C>T) c.305C>T c.7C>T c.252C>T (p.Ser84=) c.354C>T (p.Ser118=) | gnomAD v4 |
| 9 | g.127661140C>A | CA467221216 | STXBP1 | c.322C>A (p.Arg108=) c.364C>A (p.Arg122=) c.*6C>A (n.*6C>A) c.*1228C>A (n.*1228C>A) c.306C>A c.8C>A c.253C>A (p.Arg85=) c.355C>A (p.Arg119=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127661140C= | CA1879906697 | STXBP1 | c.322C= (p.Arg108=) c.364C= (p.Arg122=) c.*6C= (n.*6C=) c.*1228C= (n.*1228C=) c.306C= c.8C= c.253C= (p.Arg85=) c.355C= (p.Arg119=) | |
| 9 | g.127661140C>G | CA374932306 | STXBP1 | c.322C>G (p.Arg108Gly) c.364C>G (p.Arg122Gly) c.*6C>G (n.*6C>G) c.*1228C>G (n.*1228C>G) c.306C>G c.8C>G c.253C>G (p.Arg85Gly) c.355C>G (p.Arg119Gly) | ClinVar dbSNP |
| 9 | g.127661140C>T | CA203284 | STXBP1 | c.322C>T (p.Arg108Ter) c.364C>T (p.Arg122Ter) c.*6C>T (n.*6C>T) c.*1228C>T (n.*1228C>T) c.306C>T c.8C>T c.253C>T (p.Arg85Ter) c.355C>T (p.Arg119Ter) | ClinVar dbSNP |
| 9 | g.127661141G>A | CA5248304 | STXBP1 | c.323G>A (p.Arg108Gln) c.365G>A (p.Arg122Gln) c.*7G>A (n.*7G>A) c.*1229G>A (n.*1229G>A) c.307G>A c.9G>A c.254G>A (p.Arg85Gln) c.356G>A (p.Arg119Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127661141G>C | CA374932310 | STXBP1 | c.323G>C (p.Arg108Pro) c.365G>C (p.Arg122Pro) c.*7G>C (n.*7G>C) c.*1229G>C (n.*1229G>C) c.307G>C c.9G>C c.254G>C (p.Arg85Pro) c.356G>C (p.Arg119Pro) | |
| 9 | g.127661141G= | CA1879906704 | STXBP1 | c.323G= (p.Arg108=) c.365G= (p.Arg122=) c.*7G= (n.*7G=) c.*1229G= (n.*1229G=) c.307G= c.9G= c.254G= (p.Arg85=) c.356G= (p.Arg119=) | |
| 9 | g.127661141G>T | CA374932312 | STXBP1 | c.323G>T (p.Arg108Leu) c.365G>T (p.Arg122Leu) c.*7G>T (n.*7G>T) c.*1229G>T (n.*1229G>T) c.307G>T c.9G>T c.254G>T (p.Arg85Leu) c.356G>T (p.Arg119Leu) | |
| 9 | g.127661142A>C | CA467221227 | STXBP1 | c.324A>C (p.Arg108=) c.366A>C (p.Arg122=) c.*8A>C (n.*8A>C) c.*1230A>C (n.*1230A>C) c.308A>C c.10A>C c.255A>C (p.Arg85=) c.357A>C (p.Arg119=) | |
| 9 | g.127661142A>G | CA467221230 | STXBP1 | c.324A>G (p.Arg108=) c.366A>G (p.Arg122=) c.*8A>G (n.*8A>G) c.*1230A>G (n.*1230A>G) c.308A>G c.10A>G c.255A>G (p.Arg85=) c.357A>G (p.Arg119=) | |
| 9 | g.127661142A>T | CA467221243 | STXBP1 | c.324A>T (p.Arg108=) c.366A>T (p.Arg122=) c.*8A>T (n.*8A>T) c.*1230A>T (n.*1230A>T) c.308A>T c.10A>T c.255A>T (p.Arg85=) c.357A>T (p.Arg119=) | |
| 9 | g.127661143G>A | CA374932314 | STXBP1 | c.325G>A (p.Ala109Thr) c.367G>A (p.Ala123Thr) c.*9G>A (n.*9G>A) c.*1231G>A (n.*1231G>A) c.309G>A c.11G>A c.256G>A (p.Ala86Thr) c.358G>A (p.Ala120Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127661143G>C | CA374932316 | STXBP1 | c.325G>C (p.Ala109Pro) c.367G>C (p.Ala123Pro) c.*9G>C (n.*9G>C) c.*1231G>C (n.*1231G>C) c.309G>C c.11G>C c.256G>C (p.Ala86Pro) c.358G>C (p.Ala120Pro) | |
| 9 | g.127661143G= | CA1879906708 | STXBP1 | c.325G= (p.Ala109=) c.367G= (p.Ala123=) c.*9G= (n.*9G=) c.*1231G= (n.*1231G=) c.309G= c.11G= c.256G= (p.Ala86=) c.358G= (p.Ala120=) | |
| 9 | g.127661143G>T | CA374932318 | STXBP1 | c.325G>T (p.Ala109Ser) c.367G>T (p.Ala123Ser) c.*9G>T (n.*9G>T) c.*1231G>T (n.*1231G>T) c.309G>T c.11G>T c.256G>T (p.Ala86Ser) c.358G>T (p.Ala120Ser) | |
| 9 | g.127661144C>A | CA374932320 | STXBP1 | c.326C>A (p.Ala109Glu) c.368C>A (p.Ala123Glu) c.*10C>A (n.*10C>A) c.*1232C>A (n.*1232C>A) c.310C>A c.12C>A c.257C>A (p.Ala86Glu) c.359C>A (p.Ala120Glu) | ClinVar |
| 9 | g.127661144C>G | CA374932322 | STXBP1 | c.326C>G (p.Ala109Gly) c.368C>G (p.Ala123Gly) c.*10C>G (n.*10C>G) c.*1232C>G (n.*1232C>G) c.310C>G c.12C>G c.257C>G (p.Ala86Gly) c.359C>G (p.Ala120Gly) | |
| 9 | g.127661144C>T | CA374932323 | STXBP1 | c.326C>T (p.Ala109Val) c.368C>T (p.Ala123Val) c.*10C>T (n.*10C>T) c.*1232C>T (n.*1232C>T) c.310C>T c.12C>T c.257C>T (p.Ala86Val) c.359C>T (p.Ala120Val) | |
| 9 | g.127661145A= | CA1879906715 | STXBP1 | c.327A= (p.Ala109=) c.369A= (p.Ala123=) c.*11A= (n.*11A=) c.*1233A= (n.*1233A=) c.311A= c.13A= c.258A= (p.Ala86=) c.360A= (p.Ala120=) | |
| 9 | g.127661145A>C | CA5248305 | STXBP1 | c.327A>C (p.Ala109=) c.369A>C (p.Ala123=) c.*11A>C (n.*11A>C) c.*1233A>C (n.*1233A>C) c.311A>C c.13A>C c.258A>C (p.Ala86=) c.360A>C (p.Ala120=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127661145A>G | CA467221257 | STXBP1 | c.327A>G (p.Ala109=) c.369A>G (p.Ala123=) c.*11A>G (n.*11A>G) c.*1233A>G (n.*1233A>G) c.311A>G c.13A>G c.258A>G (p.Ala86=) c.360A>G (p.Ala120=) | |
| 9 | g.127661145A>T | CA467221261 | STXBP1 | c.327A>T (p.Ala109=) c.369A>T (p.Ala123=) c.*11A>T (n.*11A>T) c.*1233A>T (n.*1233A>T) c.311A>T c.13A>T c.258A>T (p.Ala86=) c.360A>T (p.Ala120=) | |
| 9 | g.127661146G>A | CA374932326 | STXBP1 | c.328G>A (p.Ala110Thr) c.370G>A (p.Ala124Thr) c.*12G>A (n.*12G>A) c.*1234G>A (n.*1234G>A) c.312G>A c.14G>A c.259G>A (p.Ala87Thr) c.361G>A (p.Ala121Thr) | |
| 9 | g.127661146G>C | CA374932327 | STXBP1 | c.328G>C (p.Ala110Pro) c.370G>C (p.Ala124Pro) c.*12G>C (n.*12G>C) c.*1234G>C (n.*1234G>C) c.312G>C c.14G>C c.259G>C (p.Ala87Pro) c.361G>C (p.Ala121Pro) | |
| 9 | g.127661146G>T | CA374932328 | STXBP1 | c.328G>T (p.Ala110Ser) c.370G>T (p.Ala124Ser) c.*12G>T (n.*12G>T) c.*1234G>T (n.*1234G>T) c.312G>T c.14G>T c.259G>T (p.Ala87Ser) c.361G>T (p.Ala121Ser) | |
| 9 | g.127661147C>A | CA374932334 | STXBP1 | c.329C>A (p.Ala110Asp) c.371C>A (p.Ala124Asp) c.*13C>A (n.*13C>A) c.*1235C>A (n.*1235C>A) c.313C>A c.15C>A c.260C>A (p.Ala87Asp) c.362C>A (p.Ala121Asp) | |
| 9 | g.127661147C>G | CA374932331 | STXBP1 | c.329C>G (p.Ala110Gly) c.371C>G (p.Ala124Gly) c.*13C>G (n.*13C>G) c.*1235C>G (n.*1235C>G) c.313C>G c.15C>G c.260C>G (p.Ala87Gly) c.362C>G (p.Ala121Gly) | |
| 9 | g.127661147C>T | CA374932333 | STXBP1 | c.329C>T (p.Ala110Val) c.371C>T (p.Ala124Val) c.*13C>T (n.*13C>T) c.*1235C>T (n.*1235C>T) c.313C>T c.15C>T c.260C>T (p.Ala87Val) c.362C>T (p.Ala121Val) | |
| 9 | g.127661148C>A | CA467221274 | STXBP1 | c.330C>A (p.Ala110=) c.372C>A (p.Ala124=) c.*14C>A (n.*14C>A) c.*1236C>A (n.*1236C>A) c.314C>A c.16C>A c.261C>A (p.Ala87=) c.363C>A (p.Ala121=) | |
| 9 | g.127661148C>G | CA467221275 | STXBP1 | c.330C>G (p.Ala110=) c.372C>G (p.Ala124=) c.*14C>G (n.*14C>G) c.*1236C>G (n.*1236C>G) c.314C>G c.16C>G c.261C>G (p.Ala87=) c.363C>G (p.Ala121=) | |
| 9 | g.127661148C>T | CA467221278 | STXBP1 | c.330C>T (p.Ala110=) c.372C>T (p.Ala124=) c.*14C>T (n.*14C>T) c.*1236C>T (n.*1236C>T) c.314C>T c.16C>T c.261C>T (p.Ala87=) c.363C>T (p.Ala121=) | |
| 9 | g.127661148_127661150delinsCAA | CA1879906716 | STXBP1 | c.330_332delinsCAA (p.Ala110=) c.372_374delinsCAA (p.Ala124=) c.*14_*16delinsCAA (n.*14_*16delinsCAA) c.*1236_*1238delinsCAA (n.*1236_*1238delinsCAA) c.314_316delinsCAA c.16_18delinsCAA c.261_263delinsCAA (p.Ala87=) c.363_365delinsCAA (p.Ala121=) | |
| 9 | g.127661149A>C | CA374932337 | STXBP1 | c.331A>C (p.Lys111Gln) c.373A>C (p.Lys125Gln) c.*15A>C (n.*15A>C) c.*1237A>C (n.*1237A>C) c.315A>C c.17A>C c.262A>C (p.Lys88Gln) c.364A>C (p.Lys122Gln) | |
| 9 | g.127661149A>G | CA374932339 | STXBP1 | c.331A>G (p.Lys111Glu) c.373A>G (p.Lys125Glu) c.*15A>G (n.*15A>G) c.*1237A>G (n.*1237A>G) c.315A>G c.17A>G c.262A>G (p.Lys88Glu) c.364A>G (p.Lys122Glu) | |
| 9 | g.127661149A>T | CA374932340 | STXBP1 | c.331A>T (p.Lys111Ter) c.373A>T (p.Lys125Ter) c.*15A>T (n.*15A>T) c.*1237A>T (n.*1237A>T) c.315A>T c.17A>T c.262A>T (p.Lys88Ter) c.364A>T (p.Lys122Ter) | |
| 9 | g.127661150_127661151del | CA1139661179 | STXBP1 | c.332_333del (p.Lys111SerfsTer16) c.374_375del (p.Lys125SerfsTer16) c.*16_*17del (n.*16_*17del) c.*1238_*1239del (n.*1238_*1239del) c.316_317del c.18_19del c.263_264del (p.Lys88SerfsTer?) c.365_366del (p.Lys122SerfsTer16) | ClinVar dbSNP |
| 9 | g.127661150A>C | CA374932341 | STXBP1 | c.332A>C (p.Lys111Thr) c.374A>C (p.Lys125Thr) c.*16A>C (n.*16A>C) c.*1238A>C (n.*1238A>C) c.316A>C c.18A>C c.263A>C (p.Lys88Thr) c.365A>C (p.Lys122Thr) | |
| 9 | g.127661150A>G | CA374932343 | STXBP1 | c.332A>G (p.Lys111Arg) c.374A>G (p.Lys125Arg) c.*16A>G (n.*16A>G) c.*1238A>G (n.*1238A>G) c.316A>G c.18A>G c.263A>G (p.Lys88Arg) c.365A>G (p.Lys122Arg) | |
| 9 | g.127661150A>T | CA374932345 | STXBP1 | c.332A>T (p.Lys111Ile) c.374A>T (p.Lys125Ile) c.*16A>T (n.*16A>T) c.*1238A>T (n.*1238A>T) c.316A>T c.18A>T c.263A>T (p.Lys88Ile) c.365A>T (p.Lys122Ile) | |
| 9 | g.127661151A>C | CA374932347 | STXBP1 | c.333A>C (p.Lys111Asn) c.375A>C (p.Lys125Asn) c.*17A>C (n.*17A>C) c.*1239A>C (n.*1239A>C) c.317A>C c.19A>C c.264A>C (p.Lys88Asn) c.366A>C (p.Lys122Asn) | |
| 9 | g.127661151A>G | CA467221294 | STXBP1 | c.333A>G (p.Lys111=) c.375A>G (p.Lys125=) c.*17A>G (n.*17A>G) c.*1239A>G (n.*1239A>G) c.317A>G c.19A>G c.264A>G (p.Lys88=) c.366A>G (p.Lys122=) | |
| 9 | g.127661151A>T | CA374932349 | STXBP1 | c.333A>T (p.Lys111Asn) c.375A>T (p.Lys125Asn) c.*17A>T (n.*17A>T) c.*1239A>T (n.*1239A>T) c.317A>T c.19A>T c.264A>T (p.Lys88Asn) c.366A>T (p.Lys122Asn) | |
| 9 | g.127661152G>A | CA374932350 | STXBP1 | c.334G>A (p.Val112Ile) c.376G>A (p.Val126Ile) c.*18G>A (n.*18G>A) c.*1240G>A (n.*1240G>A) c.318G>A c.20G>A c.265G>A (p.Val89Ile) c.367G>A (p.Val123Ile) | |
| 9 | g.127661152G>C | CA374932352 | STXBP1 | c.334G>C (p.Val112Leu) c.376G>C (p.Val126Leu) c.*18G>C (n.*18G>C) c.*1240G>C (n.*1240G>C) c.318G>C c.20G>C c.265G>C (p.Val89Leu) c.367G>C (p.Val123Leu) | |
| 9 | g.127661152G= | CA1879906720 | STXBP1 | c.334G= (p.Val112=) c.376G= (p.Val126=) c.*18G= (n.*18G=) c.*1240G= (n.*1240G=) c.318G= c.20G= c.265G= (p.Val89=) c.367G= (p.Val123=) | |
| 9 | g.127661152G>T | CA374932354 | STXBP1 | c.334G>T (p.Val112Phe) c.376G>T (p.Val126Phe) c.*18G>T (n.*18G>T) c.*1240G>T (n.*1240G>T) c.318G>T c.20G>T c.265G>T (p.Val89Phe) c.367G>T (p.Val123Phe) | |
| 9 | g.127661152_127661153insC | CA860173578 | STXBP1 | c.334_335insC (p.Val112AlafsTer16) c.376_377insC (p.Val126AlafsTer16) c.*18_*19insC (n.*18_*19insC) c.*1240_*1241insC (n.*1240_*1241insC) c.318_319insC c.20_21insC c.265_266insC (p.Val89AlafsTer?) c.367_368insC (p.Val123AlafsTer16) | dbSNP |
| 9 | g.127661153T>A | CA374932360 | STXBP1 | c.335T>A (p.Val112Asp) c.377T>A (p.Val126Asp) c.*19T>A (n.*19T>A) c.*1241T>A (n.*1241T>A) c.319T>A c.21T>A c.266T>A (p.Val89Asp) c.368T>A (p.Val123Asp) | |
| 9 | g.127661153T>C | CA374932358 | STXBP1 | c.335T>C (p.Val112Ala) c.377T>C (p.Val126Ala) c.*19T>C (n.*19T>C) c.*1241T>C (n.*1241T>C) c.319T>C c.21T>C c.266T>C (p.Val89Ala) c.368T>C (p.Val123Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127661153T>G | CA374932356 | STXBP1 | c.335T>G (p.Val112Gly) c.377T>G (p.Val126Gly) c.*19T>G (n.*19T>G) c.*1241T>G (n.*1241T>G) c.319T>G c.21T>G c.266T>G (p.Val89Gly) c.368T>G (p.Val123Gly) | ClinVar |
| 9 | g.127661153T= | CA1879906723 | STXBP1 | c.335T= (p.Val112=) c.377T= (p.Val126=) c.*19T= (n.*19T=) c.*1241T= (n.*1241T=) c.319T= c.21T= c.266T= (p.Val89=) c.368T= (p.Val123=) | |
| 9 | g.127661154C>A | CA467221314 | STXBP1 | c.336C>A (p.Val112=) c.378C>A (p.Val126=) c.*20C>A (n.*20C>A) c.*1242C>A (n.*1242C>A) c.320C>A c.22C>A c.267C>A (p.Val89=) c.369C>A (p.Val123=) | |
| 9 | g.127661154C>G | CA467221315 | STXBP1 | c.336C>G (p.Val112=) c.378C>G (p.Val126=) c.*20C>G (n.*20C>G) c.*1242C>G (n.*1242C>G) c.320C>G c.22C>G c.267C>G (p.Val89=) c.369C>G (p.Val123=) | |
| 9 | g.127661154C>T | CA467221318 | STXBP1 | c.336C>T (p.Val112=) c.378C>T (p.Val126=) c.*20C>T (n.*20C>T) c.*1242C>T (n.*1242C>T) c.320C>T c.22C>T c.267C>T (p.Val89=) c.369C>T (p.Val123=) | |
| 9 | g.127661155A= | CA1879906725 | STXBP1 | c.337A= (p.Ile113=) c.379A= (p.Ile127=) c.*21A= (n.*21A=) c.*1243A= (n.*1243A=) c.321A= c.23A= c.268A= (p.Ile90=) c.370A= (p.Ile124=) | |
| 9 | g.127661155A>C | CA374932362 | STXBP1 | c.337A>C (p.Ile113Leu) c.379A>C (p.Ile127Leu) c.*21A>C (n.*21A>C) c.*1243A>C (n.*1243A>C) c.321A>C c.23A>C c.268A>C (p.Ile90Leu) c.370A>C (p.Ile124Leu) | |
| 9 | g.127661155A>G | CA374932364 | STXBP1 | c.337A>G (p.Ile113Val) c.379A>G (p.Ile127Val) c.*21A>G (n.*21A>G) c.*1243A>G (n.*1243A>G) c.321A>G c.23A>G c.268A>G (p.Ile90Val) c.370A>G (p.Ile124Val) | ClinVar dbSNP |
| 9 | g.127661155A>T | CA374932366 | STXBP1 | c.337A>T (p.Ile113Phe) c.379A>T (p.Ile127Phe) c.*21A>T (n.*21A>T) c.*1243A>T (n.*1243A>T) c.321A>T c.23A>T c.268A>T (p.Ile90Phe) c.370A>T (p.Ile124Phe) | |
| 9 | g.127661156T>A | CA374932368 | STXBP1 | c.338T>A (p.Ile113Asn) c.380T>A (p.Ile127Asn) c.*22T>A (n.*22T>A) c.*1244T>A (n.*1244T>A) c.322T>A c.24T>A c.269T>A (p.Ile90Asn) c.371T>A (p.Ile124Asn) | |
| 9 | g.127661156T>C | CA374932370 | STXBP1 | c.338T>C (p.Ile113Thr) c.380T>C (p.Ile127Thr) c.*22T>C (n.*22T>C) c.*1244T>C (n.*1244T>C) c.322T>C c.24T>C c.269T>C (p.Ile90Thr) c.371T>C (p.Ile124Thr) | |
| 9 | g.127661156T>G | CA374932372 | STXBP1 | c.338T>G (p.Ile113Ser) c.380T>G (p.Ile127Ser) c.*22T>G (n.*22T>G) c.*1244T>G (n.*1244T>G) c.322T>G c.24T>G c.269T>G (p.Ile90Ser) c.371T>G (p.Ile124Ser) | |
| 9 | g.127661157C>A | CA5248306 | STXBP1 | c.339C>A (p.Ile113=) c.381C>A (p.Ile127=) c.*23C>A (n.*23C>A) c.*1245C>A (n.*1245C>A) c.323C>A c.25C>A c.270C>A (p.Ile90=) c.372C>A (p.Ile124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127661157C= | CA1879906726 | STXBP1 | c.339C= (p.Ile113=) c.381C= (p.Ile127=) c.*23C= (n.*23C=) c.*1245C= (n.*1245C=) c.323C= c.25C= c.270C= (p.Ile90=) c.372C= (p.Ile124=) | |
| 9 | g.127661157C>G | CA374932375 | STXBP1 | c.339C>G (p.Ile113Met) c.381C>G (p.Ile127Met) c.*23C>G (n.*23C>G) c.*1245C>G (n.*1245C>G) c.323C>G c.25C>G c.270C>G (p.Ile90Met) c.372C>G (p.Ile124Met) | |
| 9 | g.127661157C>T | CA467221338 | STXBP1 | c.339C>T (p.Ile113=) c.381C>T (p.Ile127=) c.*23C>T (n.*23C>T) c.*1245C>T (n.*1245C>T) c.323C>T c.25C>T c.270C>T (p.Ile90=) c.372C>T (p.Ile124=) | |
| 9 | g.127661158A>C | CA374932376 | STXBP1 | c.340A>C (p.Lys114Gln) c.382A>C (p.Lys128Gln) c.*24A>C (n.*24A>C) c.*1246A>C (n.*1246A>C) c.324A>C c.26A>C c.271A>C (p.Lys91Gln) c.373A>C (p.Lys125Gln) | |
| 9 | g.127661158A>G | CA374932378 | STXBP1 | c.340A>G (p.Lys114Glu) c.382A>G (p.Lys128Glu) c.*24A>G (n.*24A>G) c.*1246A>G (n.*1246A>G) c.324A>G c.26A>G c.271A>G (p.Lys91Glu) c.373A>G (p.Lys125Glu) | |
| 9 | g.127661158A>T | CA374932380 | STXBP1 | c.340A>T (p.Lys114Ter) c.382A>T (p.Lys128Ter) c.*24A>T (n.*24A>T) c.*1246A>T (n.*1246A>T) c.324A>T c.26A>T c.271A>T (p.Lys91Ter) c.373A>T (p.Lys125Ter) | |
| 9 | g.127661159A= | CA1879906728 | STXBP1 | c.341A= (p.Lys114=) c.383A= (p.Lys128=) c.*25A= (n.*25A=) c.*1247A= (n.*1247A=) c.325A= c.27A= c.272A= (p.Lys91=) c.374A= (p.Lys125=) | |
| 9 | g.127661159A>C | CA374932382 | STXBP1 | c.341A>C (p.Lys114Thr) c.383A>C (p.Lys128Thr) c.*25A>C (n.*25A>C) c.*1247A>C (n.*1247A>C) c.325A>C c.27A>C c.272A>C (p.Lys91Thr) c.374A>C (p.Lys125Thr) | |
| 9 | g.127661159A>G | CA374932384 | STXBP1 | c.341A>G (p.Lys114Arg) c.383A>G (p.Lys128Arg) c.*25A>G (n.*25A>G) c.*1247A>G (n.*1247A>G) c.325A>G c.27A>G c.272A>G (p.Lys91Arg) c.374A>G (p.Lys125Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127661159A>T | CA374932386 | STXBP1 | c.341A>T (p.Lys114Ile) c.383A>T (p.Lys128Ile) c.*25A>T (n.*25A>T) c.*1247A>T (n.*1247A>T) c.325A>T c.27A>T c.272A>T (p.Lys91Ile) c.374A>T (p.Lys125Ile) | |
| 9 | g.127661160A>C | CA374932387 | STXBP1 | c.342A>C (p.Lys114Asn) c.384A>C (p.Lys128Asn) c.*26A>C (n.*26A>C) c.*1248A>C (n.*1248A>C) c.326A>C c.28A>C c.273A>C (p.Lys91Asn) c.375A>C (p.Lys125Asn) | |
| 9 | g.127661160A>G | CA467221350 | STXBP1 | c.342A>G (p.Lys114=) c.384A>G (p.Lys128=) c.*26A>G (n.*26A>G) c.*1248A>G (n.*1248A>G) c.326A>G c.28A>G c.273A>G (p.Lys91=) c.375A>G (p.Lys125=) | |
| 9 | g.127661160A>T | CA374932389 | STXBP1 | c.342A>T (p.Lys114Asn) c.384A>T (p.Lys128Asn) c.*26A>T (n.*26A>T) c.*1248A>T (n.*1248A>T) c.326A>T c.28A>T c.273A>T (p.Lys91Asn) c.375A>T (p.Lys125Asn) | |
| 9 | g.127661160_127661161insCAC | CA2785991872 | STXBP1 | c.342_343insCAC (p.Lys114_Thr115insHis) c.384_385insCAC (p.Lys128_Thr129insHis) c.*26_*27insCAC (n.*26_*27insCAC) c.*1248_*1249insCAC (n.*1248_*1249insCAC) c.326_327insCAC c.28_29insCAC c.273_274insCAC (p.Lys91_Thr92insHis) c.375_376insCAC (p.Lys125_Thr126insHis) | |
| 9 | g.127661161A= | CA1879906731 | STXBP1 | c.343A= (p.Thr115=) c.385A= (p.Thr129=) c.*27A= (n.*27A=) c.*1249A= (n.*1249A=) c.327A= c.29A= c.274A= (p.Thr92=) c.376A= (p.Thr126=) | |
| 9 | g.127661161A>C | CA16612587 | STXBP1 | c.343A>C (p.Thr115Pro) c.385A>C (p.Thr129Pro) c.*27A>C (n.*27A>C) c.*1249A>C (n.*1249A>C) c.327A>C c.29A>C c.274A>C (p.Thr92Pro) c.376A>C (p.Thr126Pro) | ClinVar dbSNP |
| 9 | g.127661161A>G | CA374932392 | STXBP1 | c.343A>G (p.Thr115Ala) c.385A>G (p.Thr129Ala) c.*27A>G (n.*27A>G) c.*1249A>G (n.*1249A>G) c.327A>G c.29A>G c.274A>G (p.Thr92Ala) c.376A>G (p.Thr126Ala) | |
| 9 | g.127661161A>T | CA374932394 | STXBP1 | c.343A>T (p.Thr115Ser) c.385A>T (p.Thr129Ser) c.*27A>T (n.*27A>T) c.*1249A>T (n.*1249A>T) c.327A>T c.29A>T c.274A>T (p.Thr92Ser) c.376A>T (p.Thr126Ser) | |
| 9 | g.127661161_127661163delinsACT | CA1879906730 | STXBP1 | c.343_345delinsACT (p.Thr115=) c.385_387delinsACT (p.Thr129=) c.*27_*29delinsACT (n.*27_*29delinsACT) c.*1249_*1251delinsACT (n.*1249_*1251delinsACT) c.327_329delinsACT c.29_31delinsACT c.274_276delinsACT (p.Thr92=) c.376_378delinsACT (p.Thr126=) | |
| 9 | g.127661162C>A | CA374932397 | STXBP1 | c.344C>A (p.Thr115Asn) c.386C>A (p.Thr129Asn) c.*28C>A (n.*28C>A) c.*1250C>A (n.*1250C>A) c.328C>A c.30C>A c.275C>A (p.Thr92Asn) c.377C>A (p.Thr126Asn) | |
| 9 | g.127661162C= | CA1879906737 | STXBP1 | c.344C= (p.Thr115=) c.386C= (p.Thr129=) c.*28C= (n.*28C=) c.*1250C= (n.*1250C=) c.328C= c.30C= c.275C= (p.Thr92=) c.377C= (p.Thr126=) | |
| 9 | g.127661162C>G | CA374932399 | STXBP1 | c.344C>G (p.Thr115Ser) c.386C>G (p.Thr129Ser) c.*28C>G (n.*28C>G) c.*1250C>G (n.*1250C>G) c.328C>G c.30C>G c.275C>G (p.Thr92Ser) c.377C>G (p.Thr126Ser) | |
| 9 | g.127661162C>T | CA374932401 | STXBP1 | c.344C>T (p.Thr115Ile) c.386C>T (p.Thr129Ile) c.*28C>T (n.*28C>T) c.*1250C>T (n.*1250C>T) c.328C>T c.30C>T c.275C>T (p.Thr92Ile) c.377C>T (p.Thr126Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127661164_127661165del | CA318921 | STXBP1 | c.346_347del (p.Leu116AspfsTer11) c.388_389del (p.Leu130AspfsTer11) c.*30_*31del (n.*30_*31del) c.*1252_*1253del (n.*1252_*1253del) c.330_331del c.32_33del c.277_278del (p.Leu93AspfsTer?) c.379_380del (p.Leu127AspfsTer11) | ClinVar dbSNP |
| 9 | g.127661162_127661169delinsATCTGA | CA2573102962 | STXBP1 | c.344_351delinsATCTGA (p.Thr115AsnfsTer12) c.386_393delinsATCTGA (p.Thr129AsnfsTer12) c.*28_*35delinsATCTGA (n.*28_*35delinsATCTGA) c.*1250_*1257delinsATCTGA (n.*1250_*1257delinsATCTGA) c.328_335delinsATCTGA c.30_37delinsATCTGA c.275_282delinsATCTGA (p.Thr92AsnfsTer?) c.377_384delinsATCTGA (p.Thr126AsnfsTer12) | ClinVar |
| 9 | g.127661163T>A | CA467221367 | STXBP1 | c.345T>A (p.Thr115=) c.387T>A (p.Thr129=) c.*29T>A (n.*29T>A) c.*1251T>A (n.*1251T>A) c.329T>A c.31T>A c.276T>A (p.Thr92=) c.378T>A (p.Thr126=) | |
| 9 | g.127661163T>C | CA467221370 | STXBP1 | c.345T>C (p.Thr115=) c.387T>C (p.Thr129=) c.*29T>C (n.*29T>C) c.*1251T>C (n.*1251T>C) c.329T>C c.31T>C c.276T>C (p.Thr92=) c.378T>C (p.Thr126=) | |
| 9 | g.127661163T>G | CA467221368 | STXBP1 | c.345T>G (p.Thr115=) c.387T>G (p.Thr129=) c.*29T>G (n.*29T>G) c.*1251T>G (n.*1251T>G) c.329T>G c.31T>G c.276T>G (p.Thr92=) c.378T>G (p.Thr126=) | |
| 9 | g.127661164C>A | CA374932404 | STXBP1 | c.346C>A (p.Leu116Met) c.388C>A (p.Leu130Met) c.*30C>A (n.*30C>A) c.*1252C>A (n.*1252C>A) c.330C>A c.32C>A c.277C>A (p.Leu93Met) c.379C>A (p.Leu127Met) | |
| 9 | g.127661164C>G | CA374932407 | STXBP1 | c.346C>G (p.Leu116Val) c.388C>G (p.Leu130Val) c.*30C>G (n.*30C>G) c.*1252C>G (n.*1252C>G) c.330C>G c.32C>G c.277C>G (p.Leu93Val) c.379C>G (p.Leu127Val) | |
| 9 | g.127661164C>T | CA467221380 | STXBP1 | c.346C>T (p.Leu116=) c.388C>T (p.Leu130=) c.*30C>T (n.*30C>T) c.*1252C>T (n.*1252C>T) c.330C>T c.32C>T c.277C>T (p.Leu93=) c.379C>T (p.Leu127=) | |
| 9 | g.127661165T>A | CA374932409 | STXBP1 | c.347T>A (p.Leu116Gln) c.389T>A (p.Leu130Gln) c.*31T>A (n.*31T>A) c.*1253T>A (n.*1253T>A) c.331T>A c.33T>A c.278T>A (p.Leu93Gln) c.380T>A (p.Leu127Gln) | |
| 9 | g.127661165T>C | CA374932411 | STXBP1 | c.347T>C (p.Leu116Pro) c.389T>C (p.Leu130Pro) c.*31T>C (n.*31T>C) c.*1253T>C (n.*1253T>C) c.331T>C c.33T>C c.278T>C (p.Leu93Pro) c.380T>C (p.Leu127Pro) | |
| 9 | g.127661165T>G | CA374932412 | STXBP1 | c.347T>G (p.Leu116Arg) c.389T>G (p.Leu130Arg) c.*31T>G (n.*31T>G) c.*1253T>G (n.*1253T>G) c.331T>G c.33T>G c.278T>G (p.Leu93Arg) c.380T>G (p.Leu127Arg) | |
| 9 | g.127661166G>A | CA467221389 | STXBP1 | c.348G>A (p.Leu116=) c.390G>A (p.Leu130=) c.*32G>A (n.*32G>A) c.*1254G>A (n.*1254G>A) c.332G>A c.34G>A c.279G>A (p.Leu93=) c.381G>A (p.Leu127=) | |
| 9 | g.127661166G>C | CA467221392 | STXBP1 | c.348G>C (p.Leu116=) c.390G>C (p.Leu130=) c.*32G>C (n.*32G>C) c.*1254G>C (n.*1254G>C) c.332G>C c.34G>C c.279G>C (p.Leu93=) c.381G>C (p.Leu127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127661166G= | CA1879906740 | STXBP1 | c.348G= (p.Leu116=) c.390G= (p.Leu130=) c.*32G= (n.*32G=) c.*1254G= (n.*1254G=) c.332G= c.34G= c.279G= (p.Leu93=) c.381G= (p.Leu127=) | |
| 9 | g.127661166G>T | CA467221399 | STXBP1 | c.348G>T (p.Leu116=) c.390G>T (p.Leu130=) c.*32G>T (n.*32G>T) c.*1254G>T (n.*1254G>T) c.332G>T c.34G>T c.279G>T (p.Leu93=) c.381G>T (p.Leu127=) | COSMIC COSMIC |
| 9 | g.127661167A>C | CA374932413 | STXBP1 | c.349A>C (p.Thr117Pro) c.391A>C (p.Thr131Pro) c.*33A>C (n.*33A>C) c.*1255A>C (n.*1255A>C) c.333A>C c.35A>C c.280A>C (p.Thr94Pro) c.382A>C (p.Thr128Pro) | |
| 9 | g.127661167A>G | CA374932417 | STXBP1 | c.349A>G (p.Thr117Ala) c.391A>G (p.Thr131Ala) c.*33A>G (n.*33A>G) c.*1255A>G (n.*1255A>G) c.333A>G c.35A>G c.280A>G (p.Thr94Ala) c.382A>G (p.Thr128Ala) | |
| 9 | g.127661167A>T | CA374932414 | STXBP1 | c.349A>T (p.Thr117Ser) c.391A>T (p.Thr131Ser) c.*33A>T (n.*33A>T) c.*1255A>T (n.*1255A>T) c.333A>T c.35A>T c.280A>T (p.Thr94Ser) c.382A>T (p.Thr128Ser) | |
| 9 | g.127661168C>A | CA374932419 | STXBP1 | c.350C>A (p.Thr117Lys) c.392C>A (p.Thr131Lys) c.*34C>A (n.*34C>A) c.*1256C>A (n.*1256C>A) c.334C>A c.36C>A c.281C>A (p.Thr94Lys) c.383C>A (p.Thr128Lys) | |
| 9 | g.127661168C>G | CA374932423 | STXBP1 | c.350C>G (p.Thr117Arg) c.392C>G (p.Thr131Arg) c.*34C>G (n.*34C>G) c.*1256C>G (n.*1256C>G) c.334C>G c.36C>G c.281C>G (p.Thr94Arg) c.383C>G (p.Thr128Arg) | |
| 9 | g.127661168C>T | CA374932421 | STXBP1 | c.350C>T (p.Thr117Met) c.392C>T (p.Thr131Met) c.*34C>T (n.*34C>T) c.*1256C>T (n.*1256C>T) c.334C>T c.36C>T c.281C>T (p.Thr94Met) c.383C>T (p.Thr128Met) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127661168_127661169del | CA2573102963 | STXBP1 | c.350_351del (p.Thr117ArgfsTer10) c.392_393del (p.Thr131ArgfsTer10) c.*34_*35del (n.*34_*35del) c.*1256_*1257del (n.*1256_*1257del) c.334_335del c.36_37del c.281_282del (p.Thr94ArgfsTer?) c.383_384del (p.Thr128ArgfsTer10) | |
| 9 | g.127661169G>A | CA5248307 | STXBP1 | c.351G>A (p.Thr117=) c.393G>A (p.Thr131=) c.*35G>A (n.*35G>A) c.*1257G>A (n.*1257G>A) c.335G>A c.37G>A c.282G>A (p.Thr94=) c.384G>A (p.Thr128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127661169G>C | CA467221432 | STXBP1 | c.351G>C (p.Thr117=) c.393G>C (p.Thr131=) c.*35G>C (n.*35G>C) c.*1257G>C (n.*1257G>C) c.335G>C c.37G>C c.282G>C (p.Thr94=) c.384G>C (p.Thr128=) | |
| 9 | g.127661169G= | CA1879906742 | STXBP1 | c.351G= (p.Thr117=) c.393G= (p.Thr131=) c.*35G= (n.*35G=) c.*1257G= (n.*1257G=) c.335G= c.37G= c.282G= (p.Thr94=) c.384G= (p.Thr128=) | |
| 9 | g.127661169G>T | CA467221423 | STXBP1 | c.351G>T (p.Thr117=) c.393G>T (p.Thr131=) c.*35G>T (n.*35G>T) c.*1257G>T (n.*1257G>T) c.335G>T c.37G>T c.282G>T (p.Thr94=) c.384G>T (p.Thr128=) | |
| 9 | g.127661170G>A | CA374932428 | STXBP1 | c.352G>A (p.Glu118Lys) c.394G>A (p.Glu132Lys) c.*36G>A (n.*36G>A) c.*1258G>A (n.*1258G>A) c.336G>A c.38G>A c.283G>A (p.Glu95Lys) c.385G>A (p.Glu129Lys) | |
| 9 | g.127661170G>C | CA374932426 | STXBP1 | c.352G>C (p.Glu118Gln) c.394G>C (p.Glu132Gln) c.*36G>C (n.*36G>C) c.*1258G>C (n.*1258G>C) c.336G>C c.38G>C c.283G>C (p.Glu95Gln) c.385G>C (p.Glu129Gln) | |
| 9 | g.127661170G>T | CA374932430 | STXBP1 | c.352G>T (p.Glu118Ter) c.394G>T (p.Glu132Ter) c.*36G>T (n.*36G>T) c.*1258G>T (n.*1258G>T) c.336G>T c.38G>T c.283G>T (p.Glu95Ter) c.385G>T (p.Glu129Ter) | |
| 9 | g.127661171_127661182del | CA2573053093 | STXBP1 | c.353_364del (p.Glu118_Ile121del) c.395_406del (p.Glu132_Ile135del) c.*37_*48del (n.*37_*48del) c.*1259_*1270del (n.*1259_*1270del) c.337_348del c.39_50del c.284_295del (p.Glu95_Ile98del) c.386_397del (p.Glu129_Ile132del) | ClinVar dbSNP |
| 9 | g.127661171A>C | CA374932432 | STXBP1 | c.353A>C (p.Glu118Ala) c.395A>C (p.Glu132Ala) c.*37A>C (n.*37A>C) c.*1259A>C (n.*1259A>C) c.337A>C c.39A>C c.284A>C (p.Glu95Ala) c.386A>C (p.Glu129Ala) | |
| 9 | g.127661171A>G | CA374932434 | STXBP1 | c.353A>G (p.Glu118Gly) c.395A>G (p.Glu132Gly) c.*37A>G (n.*37A>G) c.*1259A>G (n.*1259A>G) c.337A>G c.39A>G c.284A>G (p.Glu95Gly) c.386A>G (p.Glu129Gly) | |
| 9 | g.127661171A>T | CA374932436 | STXBP1 | c.353A>T (p.Glu118Val) c.395A>T (p.Glu132Val) c.*37A>T (n.*37A>T) c.*1259A>T (n.*1259A>T) c.337A>T c.39A>T c.284A>T (p.Glu95Val) c.386A>T (p.Glu129Val) | |
| 9 | g.127661172A>C | CA374932438 | STXBP1 | c.354A>C (p.Glu118Asp) c.396A>C (p.Glu132Asp) c.*38A>C (n.*38A>C) c.*1260A>C (n.*1260A>C) c.338A>C c.40A>C c.285A>C (p.Glu95Asp) c.387A>C (p.Glu129Asp) | |
| 9 | g.127661172A>G | CA467221453 | STXBP1 | c.354A>G (p.Glu118=) c.396A>G (p.Glu132=) c.*38A>G (n.*38A>G) c.*1260A>G (n.*1260A>G) c.338A>G c.40A>G c.285A>G (p.Glu95=) c.387A>G (p.Glu129=) | |
| 9 | g.127661172A>T | CA374932440 | STXBP1 | c.354A>T (p.Glu118Asp) c.396A>T (p.Glu132Asp) c.*38A>T (n.*38A>T) c.*1260A>T (n.*1260A>T) c.338A>T c.40A>T c.285A>T (p.Glu95Asp) c.387A>T (p.Glu129Asp) | |
| 9 | g.127661173A>C | CA374932442 | STXBP1 | c.355A>C (p.Ile119Leu) c.397A>C (p.Ile133Leu) c.*39A>C (n.*39A>C) c.*1261A>C (n.*1261A>C) c.339A>C c.41A>C c.286A>C (p.Ile96Leu) c.388A>C (p.Ile130Leu) | |
| 9 | g.127661173A>G | CA374932443 | STXBP1 | c.355A>G (p.Ile119Val) c.397A>G (p.Ile133Val) c.*39A>G (n.*39A>G) c.*1261A>G (n.*1261A>G) c.339A>G c.41A>G c.286A>G (p.Ile96Val) c.388A>G (p.Ile130Val) | |
| 9 | g.127661173A>T | CA374932444 | STXBP1 | c.355A>T (p.Ile119Phe) c.397A>T (p.Ile133Phe) c.*39A>T (n.*39A>T) c.*1261A>T (n.*1261A>T) c.339A>T c.41A>T c.286A>T (p.Ile96Phe) c.388A>T (p.Ile130Phe) | |
| 9 | g.127661174T>A | CA374932447 | STXBP1 | c.356T>A (p.Ile119Asn) c.398T>A (p.Ile133Asn) c.*40T>A (n.*40T>A) c.*1262T>A (n.*1262T>A) c.340T>A c.42T>A c.287T>A (p.Ile96Asn) c.389T>A (p.Ile130Asn) | |
| 9 | g.127661174T>C | CA374932449 | STXBP1 | c.356T>C (p.Ile119Thr) c.398T>C (p.Ile133Thr) c.*40T>C (n.*40T>C) c.*1262T>C (n.*1262T>C) c.340T>C c.42T>C c.287T>C (p.Ile96Thr) c.389T>C (p.Ile130Thr) | |
| 9 | g.127661174T>G | CA374932452 | STXBP1 | c.356T>G (p.Ile119Ser) c.398T>G (p.Ile133Ser) c.*40T>G (n.*40T>G) c.*1262T>G (n.*1262T>G) c.340T>G c.42T>G c.287T>G (p.Ile96Ser) c.389T>G (p.Ile130Ser) | |
| 9 | g.127661175C>A | CA467221469 | STXBP1 | c.357C>A (p.Ile119=) c.399C>A (p.Ile133=) c.*41C>A (n.*41C>A) c.*1263C>A (n.*1263C>A) c.341C>A c.43C>A c.288C>A (p.Ile96=) c.390C>A (p.Ile130=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127661175C= | CA1879906748 | STXBP1 | c.357C= (p.Ile119=) c.399C= (p.Ile133=) c.*41C= (n.*41C=) c.*1263C= (n.*1263C=) c.341C= c.43C= c.288C= (p.Ile96=) c.390C= (p.Ile130=) | |
| 9 | g.127661175C>G | CA374932453 | STXBP1 | c.357C>G (p.Ile119Met) c.399C>G (p.Ile133Met) c.*41C>G (n.*41C>G) c.*1263C>G (n.*1263C>G) c.341C>G c.43C>G c.288C>G (p.Ile96Met) c.390C>G (p.Ile130Met) | |
| 9 | g.127661175C>T | CA467221473 | STXBP1 | c.357C>T (p.Ile119=) c.399C>T (p.Ile133=) c.*41C>T (n.*41C>T) c.*1263C>T (n.*1263C>T) c.341C>T c.43C>T c.288C>T (p.Ile96=) c.390C>T (p.Ile130=) | |
| 9 | g.127661175_127661177delinsCAA | CA1879906746 | STXBP1 | c.357_359delinsCAA (p.Ile119=) c.399_401delinsCAA (p.Ile133=) c.*41_*43delinsCAA (n.*41_*43delinsCAA) c.*1263_*1265delinsCAA (n.*1263_*1265delinsCAA) c.341_343delinsCAA c.43_45delinsCAA c.288_290delinsCAA (p.Ile96=) c.390_392delinsCAA (p.Ile130=) | |
| 9 | g.127661176A= | CA1879906749 | STXBP1 | c.358A= (p.Asn120=) c.400A= (p.Asn134=) c.*42A= (n.*42A=) c.*1264A= (n.*1264A=) c.342A= c.44A= c.289A= (p.Asn97=) c.391A= (p.Asn131=) | |
| 9 | g.127661176A>C | CA374932455 | STXBP1 | c.358A>C (p.Asn120His) c.400A>C (p.Asn134His) c.*42A>C (n.*42A>C) c.*1264A>C (n.*1264A>C) c.342A>C c.44A>C c.289A>C (p.Asn97His) c.391A>C (p.Asn131His) | |
| 9 | g.127661176A>G | CA374932459 | STXBP1 | c.358A>G (p.Asn120Asp) c.400A>G (p.Asn134Asp) c.*42A>G (n.*42A>G) c.*1264A>G (n.*1264A>G) c.342A>G c.44A>G c.289A>G (p.Asn97Asp) c.391A>G (p.Asn131Asp) | dbSNP |
| 9 | g.127661176A>T | CA374932457 | STXBP1 | c.358A>T (p.Asn120Tyr) c.400A>T (p.Asn134Tyr) c.*42A>T (n.*42A>T) c.*1264A>T (n.*1264A>T) c.342A>T c.44A>T c.289A>T (p.Asn97Tyr) c.391A>T (p.Asn131Tyr) | |
| 9 | g.127661176_127661177del | CA10606397 | STXBP1 | c.358_359del (p.Asn120TyrfsTer7) c.400_401del (p.Asn134TyrfsTer7) c.*42_*43del (n.*42_*43del) c.*1264_*1265del (n.*1264_*1265del) c.342_343del c.44_45del c.289_290del (p.Asn97TyrfsTer?) c.391_392del (p.Asn131TyrfsTer7) | ClinVar dbSNP |
| 9 | g.127661176_127661177insGGATTTTTTTTTTTTTTTGG | CA1879906751 | STXBP1 | c.358_359insGGATTTTTTTTTTTTTTTGG (p.Asn120ArgfsTer?) c.400_401insGGATTTTTTTTTTTTTTTGG (p.Asn134ArgfsTer?) c.*42_*43insGGATTTTTTTTTTTTTTTGG (n.*42_*43insGGATTTTTTTTTTTTTTTGG) c.*1264_*1265insGGATTTTTTTTTTTTTTTGG (n.*1264_*1265insGGATTTTTTTTTTTTTTTGG) c.342_343insGGATTTTTTTTTTTTTTTGG c.44_45insGGATTTTTTTTTTTTTTTGG c.289_290insGGATTTTTTTTTTTTTTTGG (p.Asn97ArgfsTer?) c.391_392insGGATTTTTTTTTTTTTTTGG (p.Asn131ArgfsTer?) | dbSNP |
| 9 | g.127661177A>C | CA374932461 | STXBP1 | c.359A>C (p.Asn120Thr) c.401A>C (p.Asn134Thr) c.*43A>C (n.*43A>C) c.*1265A>C (n.*1265A>C) c.343A>C c.45A>C c.290A>C (p.Asn97Thr) c.392A>C (p.Asn131Thr) | |
| 9 | g.127661177A>G | CA374932462 | STXBP1 | c.359A>G (p.Asn120Ser) c.401A>G (p.Asn134Ser) c.*43A>G (n.*43A>G) c.*1265A>G (n.*1265A>G) c.343A>G c.45A>G c.290A>G (p.Asn97Ser) c.392A>G (p.Asn131Ser) | |
| 9 | g.127661177A>T | CA374932464 | STXBP1 | c.359A>T (p.Asn120Ile) c.401A>T (p.Asn134Ile) c.*43A>T (n.*43A>T) c.*1265A>T (n.*1265A>T) c.343A>T c.45A>T c.290A>T (p.Asn97Ile) c.392A>T (p.Asn131Ile) | |
| 9 | g.127661178T>A | CA374932466 | STXBP1 | c.360T>A (p.Asn120Lys) c.402T>A (p.Asn134Lys) c.*44T>A (n.*44T>A) c.*1266T>A (n.*1266T>A) c.344T>A c.46T>A c.291T>A (p.Asn97Lys) c.393T>A (p.Asn131Lys) | |
| 9 | g.127661178T>C | CA467221492 | STXBP1 | c.360T>C (p.Asn120=) c.402T>C (p.Asn134=) c.*44T>C (n.*44T>C) c.*1266T>C (n.*1266T>C) c.344T>C c.46T>C c.291T>C (p.Asn97=) c.393T>C (p.Asn131=) | |
| 9 | g.127661178T>G | CA374932467 | STXBP1 | c.360T>G (p.Asn120Lys) c.402T>G (p.Asn134Lys) c.*44T>G (n.*44T>G) c.*1266T>G (n.*1266T>G) c.344T>G c.46T>G c.291T>G (p.Asn97Lys) c.393T>G (p.Asn131Lys) | |
| 9 | g.127661179A= | CA1879906752 | STXBP1 | c.361A= (p.Ile121=) c.403A= (p.Ile135=) c.*45A= (n.*45A=) c.*1267A= (n.*1267A=) c.345A= c.47A= c.292A= (p.Ile98=) c.394A= (p.Ile132=) | |
| 9 | g.127661179A>C | CA374932468 | STXBP1 | c.361A>C (p.Ile121Leu) c.403A>C (p.Ile135Leu) c.*45A>C (n.*45A>C) c.*1267A>C (n.*1267A>C) c.345A>C c.47A>C c.292A>C (p.Ile98Leu) c.394A>C (p.Ile132Leu) | |
| 9 | g.127661179A>G | CA374932469 | STXBP1 | c.361A>G (p.Ile121Val) c.403A>G (p.Ile135Val) c.*45A>G (n.*45A>G) c.*1267A>G (n.*1267A>G) c.345A>G c.47A>G c.292A>G (p.Ile98Val) c.394A>G (p.Ile132Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127661179A>T | CA374932470 | STXBP1 | c.361A>T (p.Ile121Phe) c.403A>T (p.Ile135Phe) c.*45A>T (n.*45A>T) c.*1267A>T (n.*1267A>T) c.345A>T c.47A>T c.292A>T (p.Ile98Phe) c.394A>T (p.Ile132Phe) | |
| 9 | g.127661180T>A | CA374932472 | STXBP1 | c.362T>A (p.Ile121Asn) c.404T>A (p.Ile135Asn) c.*46T>A (n.*46T>A) c.*1268T>A (n.*1268T>A) c.346T>A c.48T>A c.293T>A (p.Ile98Asn) c.395T>A (p.Ile132Asn) | |
| 9 | g.127661180T>C | CA374932473 | STXBP1 | c.362T>C (p.Ile121Thr) c.404T>C (p.Ile135Thr) c.*46T>C (n.*46T>C) c.*1268T>C (n.*1268T>C) c.346T>C c.48T>C c.293T>C (p.Ile98Thr) c.395T>C (p.Ile132Thr) | |
| 9 | g.127661180T>G | CA374932471 | STXBP1 | c.362T>G (p.Ile121Ser) c.404T>G (p.Ile135Ser) c.*46T>G (n.*46T>G) c.*1268T>G (n.*1268T>G) c.346T>G c.48T>G c.293T>G (p.Ile98Ser) c.395T>G (p.Ile132Ser) | |
| 9 | g.127661181T>A | CA467221522 | STXBP1 | c.363T>A (p.Ile121=) c.405T>A (p.Ile135=) c.*47T>A (n.*47T>A) c.*1269T>A (n.*1269T>A) c.347T>A c.49T>A c.294T>A (p.Ile98=) c.396T>A (p.Ile132=) | |
| 9 | g.127661181T>C | CA5248308 | STXBP1 | c.363T>C (p.Ile121=) c.405T>C (p.Ile135=) c.*47T>C (n.*47T>C) c.*1269T>C (n.*1269T>C) c.347T>C c.49T>C c.294T>C (p.Ile98=) c.396T>C (p.Ile132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127661181T>G | CA374932474 | STXBP1 | c.363T>G (p.Ile121Met) c.405T>G (p.Ile135Met) c.*47T>G (n.*47T>G) c.*1269T>G (n.*1269T>G) c.347T>G c.49T>G c.294T>G (p.Ile98Met) c.396T>G (p.Ile132Met) | |
| 9 | g.127661181T= | CA1879906753 | STXBP1 | c.363T= (p.Ile121=) c.405T= (p.Ile135=) c.*47T= (n.*47T=) c.*1269T= (n.*1269T=) c.347T= c.49T= c.294T= (p.Ile98=) c.396T= (p.Ile132=) | |
| 9 | g.127661182G>A | CA374932475 | STXBP1 | c.364G>A (p.Ala122Thr) c.406G>A (p.Ala136Thr) c.*48G>A (n.*48G>A) c.*1270G>A (n.*1270G>A) c.348G>A c.50G>A c.295G>A (p.Ala99Thr) c.397G>A (p.Ala133Thr) | COSMIC COSMIC |
| 9 | g.127661182G>C | CA374932476 | STXBP1 | c.364G>C (p.Ala122Pro) c.406G>C (p.Ala136Pro) c.*48G>C (n.*48G>C) c.*1270G>C (n.*1270G>C) c.348G>C c.50G>C c.295G>C (p.Ala99Pro) c.397G>C (p.Ala133Pro) | |
| 9 | g.127661182G>T | CA374932477 | STXBP1 | c.364G>T (p.Ala122Ser) c.406G>T (p.Ala136Ser) c.*48G>T (n.*48G>T) c.*1270G>T (n.*1270G>T) c.348G>T c.50G>T c.295G>T (p.Ala99Ser) c.397G>T (p.Ala133Ser) | |
| 9 | g.127661183C>A | CA374932479 | STXBP1 | c.365C>A (p.Ala122Glu) c.407C>A (p.Ala136Glu) c.*49C>A (n.*49C>A) c.*1271C>A (n.*1271C>A) c.349C>A c.51C>A c.296C>A (p.Ala99Glu) c.398C>A (p.Ala133Glu) | |
| 9 | g.127661183C>G | CA374932481 | STXBP1 | c.365C>G (p.Ala122Gly) c.407C>G (p.Ala136Gly) c.*49C>G (n.*49C>G) c.*1271C>G (n.*1271C>G) c.349C>G c.51C>G c.296C>G (p.Ala99Gly) c.398C>G (p.Ala133Gly) | |
| 9 | g.127661183C>T | CA374932483 | STXBP1 | c.365C>T (p.Ala122Val) c.407C>T (p.Ala136Val) c.*49C>T (n.*49C>T) c.*1271C>T (n.*1271C>T) c.349C>T c.51C>T c.296C>T (p.Ala99Val) c.398C>T (p.Ala133Val) | |
| 9 | g.127661184A>C | CA467221540 | STXBP1 | c.366A>C (p.Ala122=) c.408A>C (p.Ala136=) c.*50A>C (n.*50A>C) c.*1272A>C (n.*1272A>C) c.350A>C c.52A>C c.297A>C (p.Ala99=) c.399A>C (p.Ala133=) | |
| 9 | g.127661184A>G | CA467221537 | STXBP1 | c.366A>G (p.Ala122=) c.408A>G (p.Ala136=) c.*50A>G (n.*50A>G) c.*1272A>G (n.*1272A>G) c.350A>G c.52A>G c.297A>G (p.Ala99=) c.399A>G (p.Ala133=) | ClinVar dbSNP |
| 9 | g.127661184A>T | CA467221544 | STXBP1 | c.366A>T (p.Ala122=) c.408A>T (p.Ala136=) c.*50A>T (n.*50A>T) c.*1272A>T (n.*1272A>T) c.350A>T c.52A>T c.297A>T (p.Ala99=) c.399A>T (p.Ala133=) | |
| 9 | g.127661185T>A | CA374932485 | STXBP1 | c.367T>A (p.Phe123Ile) c.409T>A (p.Phe137Ile) c.*51T>A (n.*51T>A) c.*1273T>A (n.*1273T>A) c.351T>A c.53T>A c.298T>A (p.Phe100Ile) c.400T>A (p.Phe134Ile) | |
| 9 | g.127661185T>C | CA374932487 | STXBP1 | c.367T>C (p.Phe123Leu) c.409T>C (p.Phe137Leu) c.*51T>C (n.*51T>C) c.*1273T>C (n.*1273T>C) c.351T>C c.53T>C c.298T>C (p.Phe100Leu) c.400T>C (p.Phe134Leu) | |
| 9 | g.127661185T>G | CA374932491 | STXBP1 | c.367T>G (p.Phe123Val) c.409T>G (p.Phe137Val) c.*51T>G (n.*51T>G) c.*1273T>G (n.*1273T>G) c.351T>G c.53T>G c.298T>G (p.Phe100Val) c.400T>G (p.Phe134Val) | |
| 9 | g.127661186T>A | CA374932496 | STXBP1 | c.368T>A (p.Phe123Tyr) c.410T>A (p.Phe137Tyr) c.*52T>A (n.*52T>A) c.*1274T>A (n.*1274T>A) c.352T>A c.54T>A c.299T>A (p.Phe100Tyr) c.401T>A (p.Phe134Tyr) | |
| 9 | g.127661186T>C | CA374932498 | STXBP1 | c.368T>C (p.Phe123Ser) c.410T>C (p.Phe137Ser) c.*52T>C (n.*52T>C) c.*1274T>C (n.*1274T>C) c.352T>C c.54T>C c.299T>C (p.Phe100Ser) c.401T>C (p.Phe134Ser) | |
| 9 | g.127661186T>G | CA374932494 | STXBP1 | c.368T>G (p.Phe123Cys) c.410T>G (p.Phe137Cys) c.*52T>G (n.*52T>G) c.*1274T>G (n.*1274T>G) c.352T>G c.54T>G c.299T>G (p.Phe100Cys) c.401T>G (p.Phe134Cys) | |
| 9 | g.127661187T>A | CA374932502 | STXBP1 | c.369T>A (p.Phe123Leu) c.411T>A (p.Phe137Leu) c.*53T>A (n.*53T>A) c.*1275T>A (n.*1275T>A) c.353T>A c.55T>A c.300T>A (p.Phe100Leu) c.402T>A (p.Phe134Leu) | |
| 9 | g.127661187T>C | CA467221559 | STXBP1 | c.369T>C (p.Phe123=) c.411T>C (p.Phe137=) c.*53T>C (n.*53T>C) c.*1275T>C (n.*1275T>C) c.353T>C c.55T>C c.300T>C (p.Phe100=) c.402T>C (p.Phe134=) | gnomAD v4 |
| 9 | g.127661187T>G | CA374932503 | STXBP1 | c.369T>G (p.Phe123Leu) c.411T>G (p.Phe137Leu) c.*53T>G (n.*53T>G) c.*1275T>G (n.*1275T>G) c.353T>G c.55T>G c.300T>G (p.Phe100Leu) c.402T>G (p.Phe134Leu) | |
| 9 | g.127661188C>A | CA374932506 | STXBP1 | c.370C>A (p.Leu124Ile) c.412C>A (p.Leu138Ile) c.*54C>A (n.*54C>A) c.*1276C>A (n.*1276C>A) c.354C>A c.56C>A c.301C>A c.403C>A (p.Leu135Ile) | |
| 9 | g.127661188C>G | CA374932507 | STXBP1 | c.370C>G (p.Leu124Val) c.412C>G (p.Leu138Val) c.*54C>G (n.*54C>G) c.*1276C>G (n.*1276C>G) c.354C>G c.56C>G c.301C>G c.403C>G (p.Leu135Val) | |
| 9 | g.127661188C>T | CA374932509 | STXBP1 | c.370C>T (p.Leu124Phe) c.412C>T (p.Leu138Phe) c.*54C>T (n.*54C>T) c.*1276C>T (n.*1276C>T) c.354C>T c.56C>T c.301C>T c.403C>T (p.Leu135Phe) | |
| 9 | g.127661189T>A | CA374932515 | STXBP1 | c.371T>A (p.Leu124His) c.413T>A (p.Leu138His) c.*55T>A (n.*55T>A) c.*1277T>A (n.*1277T>A) c.355T>A c.57T>A c.302T>A c.404T>A (p.Leu135His) | |
| 9 | g.127661189T>C | CA374932512 | STXBP1 | c.371T>C (p.Leu124Pro) c.413T>C (p.Leu138Pro) c.*55T>C (n.*55T>C) c.*1277T>C (n.*1277T>C) c.355T>C c.57T>C c.302T>C c.404T>C (p.Leu135Pro) | |
| 9 | g.127661189T>G | CA374932513 | STXBP1 | c.371T>G (p.Leu124Arg) c.413T>G (p.Leu138Arg) c.*55T>G (n.*55T>G) c.*1277T>G (n.*1277T>G) c.355T>G c.57T>G c.302T>G c.404T>G (p.Leu135Arg) | |
| 9 | g.127661190C>A | CA467221575 | STXBP1 | c.372C>A (p.Leu124=) c.414C>A (p.Leu138=) c.*56C>A (n.*56C>A) c.*1278C>A (n.*1278C>A) c.356C>A c.58C>A c.405C>A (p.Leu135=) | |
| 9 | g.127661190C>G | CA467221577 | STXBP1 | c.372C>G (p.Leu124=) c.414C>G (p.Leu138=) c.*56C>G (n.*56C>G) c.*1278C>G (n.*1278C>G) c.356C>G c.58C>G c.405C>G (p.Leu135=) | |
| 9 | g.127661190C>T | CA467221580 | STXBP1 | c.372C>T (p.Leu124=) c.414C>T (p.Leu138=) c.*56C>T (n.*56C>T) c.*1278C>T (n.*1278C>T) c.356C>T c.58C>T c.405C>T (p.Leu135=) | gnomAD v4 |
| 9 | g.127661191C>A | CA374932516 | STXBP1 | c.373C>A (p.Pro125Thr) c.415C>A (p.Pro139Thr) c.*57C>A (n.*57C>A) c.*1279C>A (n.*1279C>A) c.357C>A c.59C>A c.406C>A (p.Pro136Thr) | |
| 9 | g.127661191C>G | CA374932518 | STXBP1 | c.373C>G (p.Pro125Ala) c.415C>G (p.Pro139Ala) c.*57C>G (n.*57C>G) c.*1279C>G (n.*1279C>G) c.357C>G c.59C>G c.406C>G (p.Pro136Ala) | |
| 9 | g.127661191C>T | CA374932520 | STXBP1 | c.373C>T (p.Pro125Ser) c.415C>T (p.Pro139Ser) c.*57C>T (n.*57C>T) c.*1279C>T (n.*1279C>T) c.357C>T c.59C>T c.406C>T (p.Pro136Ser) | |
| 9 | g.127661192C>A | CA374932523 | STXBP1 | c.374C>A (p.Pro125Gln) c.416C>A (p.Pro139Gln) c.*58C>A (n.*58C>A) c.*1280C>A (n.*1280C>A) c.358C>A c.60C>A c.407C>A (p.Pro136Gln) | ClinVar dbSNP |
| 9 | g.127661192C= | CA1879906756 | STXBP1 | c.374C= (p.Pro125=) c.416C= (p.Pro139=) c.*58C= (n.*58C=) c.*1280C= (n.*1280C=) c.358C= c.60C= c.407C= (p.Pro136=) | |
| 9 | g.127661192C>G | CA374932525 | STXBP1 | c.374C>G (p.Pro125Arg) c.416C>G (p.Pro139Arg) c.*58C>G (n.*58C>G) c.*1280C>G (n.*1280C>G) c.358C>G c.60C>G c.407C>G (p.Pro136Arg) | |
| 9 | g.127661192C>T | CA318847 | STXBP1 | c.374C>T (p.Pro125Leu) c.416C>T (p.Pro139Leu) c.*58C>T (n.*58C>T) c.*1280C>T (n.*1280C>T) c.358C>T c.60C>T c.407C>T (p.Pro136Leu) | ClinVar dbSNP |
| 9 | g.127661193G>A | CA467221595 | STXBP1 | c.375G>A (p.Pro125=) c.417G>A (p.Pro139=) c.*59G>A (n.*59G>A) c.*1281G>A (n.*1281G>A) c.359G>A c.61G>A c.408G>A (p.Pro136=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127661193G>C | CA467221596 | STXBP1 | c.375G>C (p.Pro125=) c.417G>C (p.Pro139=) c.*59G>C (n.*59G>C) c.*1281G>C (n.*1281G>C) c.359G>C c.61G>C c.408G>C (p.Pro136=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127661193G= | CA1879906761 | STXBP1 | c.375G= (p.Pro125=) c.417G= (p.Pro139=) c.*59G= (n.*59G=) c.*1281G= (n.*1281G=) c.359G= c.61G= c.408G= (p.Pro136=) | |
| 9 | g.127661193G>T | CA200262960 | STXBP1 | c.375G>T (p.Pro125=) c.417G>T (p.Pro139=) c.*59G>T (n.*59G>T) c.*1281G>T (n.*1281G>T) c.359G>T c.61G>T c.408G>T (p.Pro136=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127661194T>A | CA374932530 | STXBP1 | c.376T>A (p.Tyr126Asn) c.418T>A (p.Tyr140Asn) c.*60T>A (n.*60T>A) c.*1282T>A (n.*1282T>A) c.360T>A c.62T>A c.409T>A (p.Tyr137Asn) | |
| 9 | g.127661194T>C | CA374932532 | STXBP1 | c.376T>C (p.Tyr126His) c.418T>C (p.Tyr140His) c.*60T>C (n.*60T>C) c.*1282T>C (n.*1282T>C) c.360T>C c.62T>C c.409T>C (p.Tyr137His) | |
| 9 | g.127661194T>G | CA374932528 | STXBP1 | c.376T>G (p.Tyr126Asp) c.418T>G (p.Tyr140Asp) c.*60T>G (n.*60T>G) c.*1282T>G (n.*1282T>G) c.360T>G c.62T>G c.409T>G (p.Tyr137Asp) | |
| 9 | g.127661195A= | CA1879906768 | STXBP1 | c.377A= (p.Tyr126=) c.419A= (p.Tyr140=) c.*61A= (n.*61A=) c.*1283A= (n.*1283A=) c.361A= c.63A= c.410A= (p.Tyr137=) | |
| 9 | g.127661195A>C | CA374932535 | STXBP1 | c.377A>C (p.Tyr126Ser) c.419A>C (p.Tyr140Ser) c.*61A>C (n.*61A>C) c.*1283A>C (n.*1283A>C) c.361A>C c.63A>C c.410A>C (p.Tyr137Ser) | |
| 9 | g.127661195A>G | CA200262961 | STXBP1 | c.377A>G (p.Tyr126Cys) c.419A>G (p.Tyr140Cys) c.*61A>G (n.*61A>G) c.*1283A>G (n.*1283A>G) c.361A>G c.63A>G c.410A>G (p.Tyr137Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127661195A>T | CA374932537 | STXBP1 | c.377A>T (p.Tyr126Phe) c.419A>T (p.Tyr140Phe) c.*61A>T (n.*61A>T) c.*1283A>T (n.*1283A>T) c.361A>T c.63A>T c.410A>T (p.Tyr137Phe) | |
| 9 | g.127661196T>A | CA16618738 | STXBP1 | c.378T>A (p.Tyr126Ter) c.420T>A (p.Tyr140Ter) c.*62T>A (n.*62T>A) c.*1284T>A (n.*1284T>A) c.362T>A c.64T>A c.411T>A (p.Tyr137Ter) | ClinVar dbSNP |
| 9 | g.127661196T>C | CA467221610 | STXBP1 | c.378T>C (p.Tyr126=) c.420T>C (p.Tyr140=) c.*62T>C (n.*62T>C) c.*1284T>C (n.*1284T>C) c.362T>C c.64T>C c.411T>C (p.Tyr137=) | |
| 9 | g.127661196T>G | CA374932540 | STXBP1 | c.378T>G (p.Tyr126Ter) c.420T>G (p.Tyr140Ter) c.*62T>G (n.*62T>G) c.*1284T>G (n.*1284T>G) c.362T>G c.64T>G c.411T>G (p.Tyr137Ter) | |
| 9 | g.127661196T= | CA1879906775 | STXBP1 | c.378T= (p.Tyr126=) c.420T= (p.Tyr140=) c.*62T= (n.*62T=) c.*1284T= (n.*1284T=) c.362T= c.64T= c.411T= (p.Tyr137=) | |
| 9 | g.127661197G>A | CA374932542 | STXBP1 | c.379G>A (p.Glu127Lys) c.421G>A (p.Glu141Lys) c.*63G>A (n.*63G>A) c.*1285G>A (n.*1285G>A) c.363G>A c.65G>A c.412G>A (p.Glu138Lys) | |
| 9 | g.127661197G>C | CA374932544 | STXBP1 | c.379G>C (p.Glu127Gln) c.421G>C (p.Glu141Gln) c.*63G>C (n.*63G>C) c.*1285G>C (n.*1285G>C) c.363G>C c.65G>C c.412G>C (p.Glu138Gln) | |
| 9 | g.127661197G>T | CA374932546 | STXBP1 | c.379G>T (p.Glu127Ter) c.421G>T (p.Glu141Ter) c.*63G>T (n.*63G>T) c.*1285G>T (n.*1285G>T) c.363G>T c.65G>T c.412G>T (p.Glu138Ter) | |
| 9 | g.127661198A>C | CA374932548 | STXBP1 | c.380A>C (p.Glu127Ala) c.422A>C (p.Glu141Ala) c.*64A>C (n.*64A>C) c.*1286A>C (n.*1286A>C) c.364A>C c.66A>C c.413A>C (p.Glu138Ala) | |
| 9 | g.127661198A>G | CA374932550 | STXBP1 | c.380A>G (p.Glu127Gly) c.422A>G (p.Glu141Gly) c.*64A>G (n.*64A>G) c.*1286A>G (n.*1286A>G) c.364A>G c.66A>G c.413A>G (p.Glu138Gly) | |
| 9 | g.127661198A>T | CA374932552 | STXBP1 | c.380A>T (p.Glu127Val) c.422A>T (p.Glu141Val) c.*64A>T (n.*64A>T) c.*1286A>T (n.*1286A>T) c.364A>T c.66A>T c.413A>T (p.Glu138Val) | |
| 9 | g.127661199A= | CA1879906783 | STXBP1 | c.381A= (p.Glu127=) c.423A= (p.Glu141=) c.*65A= (n.*65A=) c.*1287A= (n.*1287A=) c.365A= c.67A= c.414A= (p.Glu138=) | |
| 9 | g.127661199A>C | CA374932554 | STXBP1 | c.381A>C (p.Glu127Asp) c.423A>C (p.Glu141Asp) c.*65A>C (n.*65A>C) c.*1287A>C (n.*1287A>C) c.365A>C c.67A>C c.414A>C (p.Glu138Asp) | |
| 9 | g.127661199A>G | CA467221629 | STXBP1 | c.381A>G (p.Glu127=) c.423A>G (p.Glu141=) c.*65A>G (n.*65A>G) c.*1287A>G (n.*1287A>G) c.365A>G c.67A>G c.414A>G (p.Glu138=) | |
| 9 | g.127661199A>T | CA374932556 | STXBP1 | c.381A>T (p.Glu127Asp) c.423A>T (p.Glu141Asp) c.*65A>T (n.*65A>T) c.*1287A>T (n.*1287A>T) c.365A>T c.67A>T c.414A>T (p.Glu138Asp) | ClinVar dbSNP |
| 9 | g.127661200T>A | CA374932561 | STXBP1 | c.382T>A (p.Ser128Thr) c.424T>A (p.Ser142Thr) c.*66T>A (n.*66T>A) c.*1288T>A (n.*1288T>A) c.366T>A c.68T>A c.415T>A (p.Ser139Thr) | |
| 9 | g.127661200T>C | CA374932559 | STXBP1 | c.382T>C (p.Ser128Pro) c.424T>C (p.Ser142Pro) c.*66T>C (n.*66T>C) c.*1288T>C (n.*1288T>C) c.366T>C c.68T>C c.415T>C (p.Ser139Pro) | ClinVar |
| 9 | g.127661200T>G | CA374932557 | STXBP1 | c.382T>G (p.Ser128Ala) c.424T>G (p.Ser142Ala) c.*66T>G (n.*66T>G) c.*1288T>G (n.*1288T>G) c.366T>G c.68T>G c.415T>G (p.Ser139Ala) | |
| 9 | g.127661201C>A | CA374932562 | STXBP1 | c.383C>A (p.Ser128Tyr) c.425C>A (p.Ser142Tyr) c.*67C>A (n.*67C>A) c.*1289C>A (n.*1289C>A) c.367C>A c.69C>A c.416C>A (p.Ser139Tyr) | |
| 9 | g.127661201C>G | CA374932564 | STXBP1 | c.383C>G (p.Ser128Cys) c.425C>G (p.Ser142Cys) c.*67C>G (n.*67C>G) c.*1289C>G (n.*1289C>G) c.367C>G c.69C>G c.416C>G (p.Ser139Cys) | |
| 9 | g.127661201C>T | CA374932566 | STXBP1 | c.383C>T (p.Ser128Phe) c.425C>T (p.Ser142Phe) c.*67C>T (n.*67C>T) c.*1289C>T (n.*1289C>T) c.367C>T c.69C>T c.416C>T (p.Ser139Phe) | gnomAD v4 |
| 9 | g.127661202C>A | CA467221649 | STXBP1 | c.384C>A (p.Ser128=) c.426C>A (p.Ser142=) c.*68C>A (n.*68C>A) c.*1290C>A (n.*1290C>A) c.368C>A c.70C>A c.417C>A (p.Ser139=) | |
| 9 | g.127661202C= | CA1879906787 | STXBP1 | c.384C= (p.Ser128=) c.426C= (p.Ser142=) c.*68C= (n.*68C=) c.*1290C= (n.*1290C=) c.368C= c.70C= c.417C= (p.Ser139=) | |
| 9 | g.127661202C>G | CA467221645 | STXBP1 | c.384C>G (p.Ser128=) c.426C>G (p.Ser142=) c.*68C>G (n.*68C>G) c.*1290C>G (n.*1290C>G) c.368C>G c.70C>G c.417C>G (p.Ser139=) | |
| 9 | g.127661202C>T | CA467221647 | STXBP1 | c.384C>T (p.Ser128=) c.426C>T (p.Ser142=) c.*68C>T (n.*68C>T) c.*1290C>T (n.*1290C>T) c.368C>T c.70C>T c.417C>T (p.Ser139=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127661203C>A | CA374932568 | STXBP1 | c.385C>A (p.Gln129Lys) c.427C>A (p.Gln143Lys) c.*69C>A (n.*69C>A) c.*1291C>A (n.*1291C>A) c.369C>A c.71C>A c.418C>A (p.Gln140Lys) | |
| 9 | g.127661203C>G | CA374932570 | STXBP1 | c.385C>G (p.Gln129Glu) c.427C>G (p.Gln143Glu) c.*69C>G (n.*69C>G) c.*1291C>G (n.*1291C>G) c.369C>G c.71C>G c.418C>G (p.Gln140Glu) | |
| 9 | g.127661203C>T | CA374932572 | STXBP1 | c.385C>T (p.Gln129Ter) c.427C>T (p.Gln143Ter) c.*69C>T (n.*69C>T) c.*1291C>T (n.*1291C>T) c.369C>T c.71C>T c.418C>T (p.Gln140Ter) | |
| 9 | g.127661204A>C | CA374932574 | STXBP1 | c.386A>C (p.Gln129Pro) c.428A>C (p.Gln143Pro) c.*70A>C (n.*70A>C) c.*1292A>C (n.*1292A>C) c.370A>C c.72A>C c.419A>C (p.Gln140Pro) | |
| 9 | g.127661204A>G | CA374932576 | STXBP1 | c.386A>G (p.Gln129Arg) c.428A>G (p.Gln143Arg) c.*70A>G (n.*70A>G) c.*1292A>G (n.*1292A>G) c.370A>G c.72A>G c.419A>G (p.Gln140Arg) | |
| 9 | g.127661204A>T | CA374932578 | STXBP1 | c.386A>T (p.Gln129Leu) c.428A>T (p.Gln143Leu) c.*70A>T (n.*70A>T) c.*1292A>T (n.*1292A>T) c.370A>T c.72A>T c.419A>T (p.Gln140Leu) | |
| 9 | g.127661205G>A | CA467221667 | STXBP1 | c.387G>A (p.Gln129=) c.429G>A (p.Gln143=) c.*71G>A (n.*71G>A) c.*1293G>A (n.*1293G>A) c.371G>A c.73G>A c.420G>A (p.Gln140=) | ClinVar dbSNP |
| 9 | g.127661205G>C | CA374932580 | STXBP1 | c.387G>C (p.Gln129His) c.429G>C (p.Gln143His) c.*71G>C (n.*71G>C) c.*1293G>C (n.*1293G>C) c.371G>C c.73G>C c.420G>C (p.Gln140His) | |
| 9 | g.127661205G= | CA1879906792 | STXBP1 | c.387G= (p.Gln129=) c.429G= (p.Gln143=) c.*71G= (n.*71G=) c.*1293G= (n.*1293G=) c.371G= c.73G= c.420G= (p.Gln140=) | |
| 9 | g.127661205G>T | CA374932581 | STXBP1 | c.387G>T (p.Gln129His) c.429G>T (p.Gln143His) c.*71G>T (n.*71G>T) c.*1293G>T (n.*1293G>T) c.371G>T c.73G>T c.420G>T (p.Gln140His) | |
| 9 | g.127661206G>A | CA374932584 | STXBP1 | c.387+1G>A (n.387+1G>A) c.429+1G>A (n.429+1G>A) c.*71+1G>A (n.*71+1G>A) c.*1293+1G>A (n.*1293+1G>A) c.371+1G>A c.73+1G>A c.420+1G>A (n.420+1G>A) | ClinVar gnomAD v4 |
| 9 | g.127661206G>C | CA374932585 | STXBP1 | c.387+1G>C (n.387+1G>C) c.429+1G>C (n.429+1G>C) c.*71+1G>C (n.*71+1G>C) c.*1293+1G>C (n.*1293+1G>C) c.371+1G>C c.73+1G>C c.420+1G>C (n.420+1G>C) | |
| 9 | g.127661206G>T | CA374932588 | STXBP1 | c.387+1G>T (n.387+1G>T) c.429+1G>T (n.429+1G>T) c.*71+1G>T (n.*71+1G>T) c.*1293+1G>T (n.*1293+1G>T) c.371+1G>T c.73+1G>T c.420+1G>T (n.420+1G>T) | |
| 9 | g.127661207T>A | CA374932591 | STXBP1 | c.387+2T>A (n.387+2T>A) c.429+2T>A (n.429+2T>A) c.*71+2T>A (n.*71+2T>A) c.*1293+2T>A (n.*1293+2T>A) c.371+2T>A c.73+2T>A c.420+2T>A (n.420+2T>A) | |
| 9 | g.127661207T>C | CA374932593 | STXBP1 | c.387+2T>C (n.387+2T>C) c.429+2T>C (n.429+2T>C) c.*71+2T>C (n.*71+2T>C) c.*1293+2T>C (n.*1293+2T>C) c.371+2T>C c.73+2T>C c.420+2T>C (n.420+2T>C) | |
| 9 | g.127661207T>G | CA374932590 | STXBP1 | c.387+2T>G (n.387+2T>G) c.429+2T>G (n.429+2T>G) c.*71+2T>G (n.*71+2T>G) c.*1293+2T>G (n.*1293+2T>G) c.371+2T>G c.73+2T>G c.420+2T>G (n.420+2T>G) | ClinVar |
| 9 | g.127661208G>A | CA5248309 | STXBP1 | c.387+3G>A (n.387+3G>A) c.429+3G>A (n.429+3G>A) c.*71+3G>A (n.*71+3G>A) c.*1293+3G>A (n.*1293+3G>A) c.371+3G>A c.73+3G>A c.420+3G>A (n.420+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127661208G= | CA1879906798 | STXBP1 | c.387+3G= (n.387+3G=) c.429+3G= (n.429+3G=) c.*71+3G= (n.*71+3G=) c.*1293+3G= (n.*1293+3G=) c.371+3G= c.73+3G= c.420+3G= (n.420+3G=) |