WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |