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.127658453_127660122del | CA916083067 | STXBP1 | c.204+2_283+14del c.246+2_325+14del c.269+2_348+14del c.*1110+2_*1189+14del c.188+2_267+14del c.135+2_214+14del | ClinVar |
| 9 | g.127660030_127660059del | CA2573144041 | STXBP1 | c.205_234del c.247_276del c.270_299del c.*1111_*1140del c.189_218del c.136_165del | ClinVar dbSNP |
| 9 | g.127660046_127660048del | CA2739291260 | STXBP1 | c.221_223del (p.Ile74del) c.263_265del (p.Ile88del) c.286_288del (p.Ser96del) c.*1127_*1129del (n.*1127_*1129del) c.205_207del c.152_154del (p.Ile51del) | |
| 9 | g.127660047_127660048delinsCA | CA1879905870 | STXBP1 | c.222_223delinsCA (p.Ile74=) c.264_265delinsCA (p.Ile88=) c.287_288delinsCA (p.Ser96=) c.*1128_*1129delinsCA (n.*1128_*1129delinsCA) c.206_207delinsCA c.153_154delinsCA (p.Ile51=) | |
| 9 | g.127660048del | CA16612695 | STXBP1 | c.223del (p.Ser75ValfsTer?) c.265del (p.Ser89ValfsTer?) c.288del (p.Val97Ter) c.*1129del (n.*1129del) c.207del c.154del (p.Ser52ValfsTer?) c.265del (p.Ser89ValfsTer28) | ClinVar dbSNP |
| 9 | g.127660048A>C | CA374931705 | STXBP1 | c.223A>C (p.Ser75Arg) c.265A>C (p.Ser89Arg) c.288A>C (p.Ser96=) c.*1129A>C (n.*1129A>C) c.207A>C c.154A>C (p.Ser52Arg) | |
| 9 | g.127660048A>G | CA374931706 | STXBP1 | c.223A>G (p.Ser75Gly) c.265A>G (p.Ser89Gly) c.288A>G (p.Ser96=) c.*1129A>G (n.*1129A>G) c.207A>G c.154A>G (p.Ser52Gly) | |
| 9 | g.127660048A>T | CA374931707 | STXBP1 | c.223A>T (p.Ser75Cys) c.265A>T (p.Ser89Cys) c.288A>T (p.Ser96=) c.*1129A>T (n.*1129A>T) c.207A>T c.154A>T (p.Ser52Cys) | |
| 9 | g.127660049G>A | CA374931708 | STXBP1 | c.224G>A (p.Ser75Asn) c.266G>A (p.Ser89Asn) c.289G>A (p.Val97Met) c.*1130G>A (n.*1130G>A) c.208G>A c.155G>A (p.Ser52Asn) | |
| 9 | g.127660049G>C | CA374931709 | STXBP1 | c.224G>C (p.Ser75Thr) c.266G>C (p.Ser89Thr) c.289G>C (p.Val97Leu) c.*1130G>C (n.*1130G>C) c.208G>C c.155G>C (p.Ser52Thr) | |
| 9 | g.127660049G>T | CA374931710 | STXBP1 | c.224G>T (p.Ser75Ile) c.266G>T (p.Ser89Ile) c.289G>T (p.Val97Leu) c.*1130G>T (n.*1130G>T) c.208G>T c.155G>T (p.Ser52Ile) | |
| 9 | g.127660050T>A | CA374931711 | STXBP1 | c.225T>A (p.Ser75Arg) c.267T>A (p.Ser89Arg) c.290T>A (p.Val97Glu) c.*1131T>A (n.*1131T>A) c.209T>A c.156T>A (p.Ser52Arg) | |
| 9 | g.127660050T>C | CA467218450 | STXBP1 | c.225T>C (p.Ser75=) c.267T>C (p.Ser89=) c.290T>C (p.Val97Ala) c.*1131T>C (n.*1131T>C) c.209T>C c.156T>C (p.Ser52=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127660050T>G | CA374931712 | STXBP1 | c.225T>G (p.Ser75Arg) c.267T>G (p.Ser89Arg) c.290T>G (p.Val97Gly) c.*1131T>G (n.*1131T>G) c.209T>G c.156T>G (p.Ser52Arg) | |
| 9 | g.127660050T= | CA1879905881 | STXBP1 | c.225T= (p.Ser75=) c.267T= (p.Ser89=) c.290T= (p.Val97=) c.*1131T= (n.*1131T=) c.209T= c.156T= (p.Ser52=) | |
| 9 | g.127660051G>A | CA374931713 | STXBP1 | c.226G>A (p.Asp76Asn) c.268G>A (p.Asp90Asn) c.291G>A (p.Val97=) c.*1132G>A (n.*1132G>A) c.210G>A c.157G>A (p.Asp53Asn) | |
| 9 | g.127660051G>C | CA374931714 | STXBP1 | c.226G>C (p.Asp76His) c.268G>C (p.Asp90His) c.291G>C (p.Val97=) c.*1132G>C (n.*1132G>C) c.210G>C c.157G>C (p.Asp53His) | ClinVar dbSNP |
| 9 | g.127660051G= | CA1879905888 | STXBP1 | c.226G= (p.Asp76=) c.268G= (p.Asp90=) c.291G= (p.Val97=) c.*1132G= (n.*1132G=) c.210G= c.157G= (p.Asp53=) | |
| 9 | g.127660051G>T | CA374931715 | STXBP1 | c.226G>T (p.Asp76Tyr) c.268G>T (p.Asp90Tyr) c.291G>T (p.Val97=) c.*1132G>T (n.*1132G>T) c.210G>T c.157G>T (p.Asp53Tyr) | |
| 9 | g.127660052A>C | CA374931716 | STXBP1 | c.227A>C (p.Asp76Ala) c.269A>C (p.Asp90Ala) c.292A>C (p.Thr98Pro) c.*1133A>C (n.*1133A>C) c.211A>C c.158A>C (p.Asp53Ala) | |
| 9 | g.127660052A>G | CA374931718 | STXBP1 | c.227A>G (p.Asp76Gly) c.269A>G (p.Asp90Gly) c.292A>G (p.Thr98Ala) c.*1133A>G (n.*1133A>G) c.211A>G c.158A>G (p.Asp53Gly) | |
| 9 | g.127660052A>T | CA374931717 | STXBP1 | c.227A>T (p.Asp76Val) c.269A>T (p.Asp90Val) c.292A>T (p.Thr98Ser) c.*1133A>T (n.*1133A>T) c.211A>T c.158A>T (p.Asp53Val) | |
| 9 | g.127660053C>A | CA374931719 | STXBP1 | c.228C>A (p.Asp76Glu) c.270C>A (p.Asp90Glu) c.293C>A (p.Thr98Asn) c.*1134C>A (n.*1134C>A) c.212C>A c.159C>A (p.Asp53Glu) | |
| 9 | g.127660053C>G | CA374931720 | STXBP1 | c.228C>G (p.Asp76Glu) c.270C>G (p.Asp90Glu) c.293C>G (p.Thr98Ser) c.*1134C>G (n.*1134C>G) c.212C>G c.159C>G (p.Asp53Glu) | |
| 9 | g.127660053C>T | CA467218455 | STXBP1 | c.228C>T (p.Asp76=) c.270C>T (p.Asp90=) c.293C>T (p.Thr98Ile) c.*1134C>T (n.*1134C>T) c.212C>T c.159C>T (p.Asp53=) | gnomAD v4 |
| 9 | g.127660054T>A | CA374931721 | STXBP1 | c.229T>A (p.Phe77Ile) c.271T>A (p.Phe91Ile) c.294T>A (p.Thr98=) c.*1135T>A (n.*1135T>A) c.213T>A c.160T>A (p.Phe54Ile) | |
| 9 | g.127660054T>C | CA374931722 | STXBP1 | c.229T>C (p.Phe77Leu) c.271T>C (p.Phe91Leu) c.294T>C (p.Thr98=) c.*1135T>C (n.*1135T>C) c.213T>C c.160T>C (p.Phe54Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127660054T>G | CA374931723 | STXBP1 | c.229T>G (p.Phe77Val) c.271T>G (p.Phe91Val) c.294T>G (p.Thr98=) c.*1135T>G (n.*1135T>G) c.213T>G c.160T>G (p.Phe54Val) | |
| 9 | g.127660054T= | CA1879905893 | STXBP1 | c.229T= (p.Phe77=) c.271T= (p.Phe91=) c.294T= (p.Thr98=) c.*1135T= (n.*1135T=) c.213T= c.160T= (p.Phe54=) | |
| 9 | g.127660056del | CA2695211179 | STXBP1 | c.231del (p.Phe77LeufsTer29) c.273del (p.Phe91LeufsTer29) c.296del (p.Leu99Ter) c.*1137del (n.*1137del) c.215del c.162del (p.Phe54LeufsTer29) c.231del (p.Phe77LeufsTer?) c.273del (p.Phe91LeufsTer26) | |
| 9 | g.127660055T>A | CA374931724 | STXBP1 | c.230T>A (p.Phe77Tyr) c.272T>A (p.Phe91Tyr) c.295T>A (p.Leu99Ile) c.*1136T>A (n.*1136T>A) c.214T>A c.161T>A (p.Phe54Tyr) | |
| 9 | g.127660055T>C | CA374931725 | STXBP1 | c.230T>C (p.Phe77Ser) c.272T>C (p.Phe91Ser) c.295T>C (p.Leu99=) c.*1136T>C (n.*1136T>C) c.214T>C c.161T>C (p.Phe54Ser) | |
| 9 | g.127660055T>G | CA374931726 | STXBP1 | c.230T>G (p.Phe77Cys) c.272T>G (p.Phe91Cys) c.295T>G (p.Leu99Val) c.*1136T>G (n.*1136T>G) c.214T>G c.161T>G (p.Phe54Cys) | |
| 9 | g.127660056T>A | CA200262840 | STXBP1 | c.231T>A (p.Phe77Leu) c.273T>A (p.Phe91Leu) c.296T>A (p.Leu99Ter) c.*1137T>A (n.*1137T>A) c.215T>A c.162T>A (p.Phe54Leu) | dbSNP gnomAD v4 |
| 9 | g.127660056T>C | CA467218462 | STXBP1 | c.231T>C (p.Phe77=) c.273T>C (p.Phe91=) c.296T>C (p.Leu99Ser) c.*1137T>C (n.*1137T>C) c.215T>C c.162T>C (p.Phe54=) | |
| 9 | g.127660056T>G | CA374931727 | STXBP1 | c.231T>G (p.Phe77Leu) c.273T>G (p.Phe91Leu) c.296T>G (p.Leu99Ter) c.*1137T>G (n.*1137T>G) c.215T>G c.162T>G (p.Phe54Leu) | |
| 9 | g.127660056T= | CA1879905895 | STXBP1 | c.231T= (p.Phe77=) c.273T= (p.Phe91=) c.296T= (p.Leu99=) c.*1137T= (n.*1137T=) c.215T= c.162T= (p.Phe54=) | |
| 9 | g.127660057A>C | CA374931729 | STXBP1 | c.232A>C (p.Lys78Gln) c.274A>C (p.Lys92Gln) c.297A>C (p.Leu99Phe) c.*1138A>C (n.*1138A>C) c.216A>C c.163A>C (p.Lys55Gln) | |
| 9 | g.127660057A>G | CA374931730 | STXBP1 | c.232A>G (p.Lys78Glu) c.274A>G (p.Lys92Glu) c.297A>G (p.Leu99=) c.*1138A>G (n.*1138A>G) c.216A>G c.163A>G (p.Lys55Glu) | |
| 9 | g.127660057A>T | CA374931728 | STXBP1 | c.232A>T (p.Lys78Ter) c.274A>T (p.Lys92Ter) c.297A>T (p.Leu99Phe) c.*1138A>T (n.*1138A>T) c.216A>T c.163A>T (p.Lys55Ter) | |
| 9 | g.127660058A>C | CA374931731 | STXBP1 | c.233A>C (p.Lys78Thr) c.275A>C (p.Lys92Thr) c.298A>C (p.Arg100=) c.*1139A>C (n.*1139A>C) c.217A>C c.164A>C (p.Lys55Thr) | |
| 9 | g.127660058A>G | CA374931732 | STXBP1 | c.233A>G (p.Lys78Arg) c.275A>G (p.Lys92Arg) c.298A>G (p.Arg100Gly) c.*1139A>G (n.*1139A>G) c.217A>G c.164A>G (p.Lys55Arg) | |
| 9 | g.127660058A>T | CA374931733 | STXBP1 | c.233A>T (p.Lys78Met) c.275A>T (p.Lys92Met) c.298A>T (p.Arg100Trp) c.*1139A>T (n.*1139A>T) c.217A>T c.164A>T (p.Lys55Met) | |
| 9 | g.127660059G>A | CA467218470 | STXBP1 | c.234G>A (p.Lys78=) c.276G>A (p.Lys92=) c.299G>A (p.Arg100Lys) c.*1140G>A (n.*1140G>A) c.218G>A c.165G>A (p.Lys55=) | COSMIC COSMIC |
| 9 | g.127660059G>C | CA374931734 | STXBP1 | c.234G>C (p.Lys78Asn) c.276G>C (p.Lys92Asn) c.299G>C (p.Arg100Thr) c.*1140G>C (n.*1140G>C) c.218G>C c.165G>C (p.Lys55Asn) | |
| 9 | g.127660059G>T | CA374931735 | STXBP1 | c.234G>T (p.Lys78Asn) c.276G>T (p.Lys92Asn) c.299G>T (p.Arg100Met) c.*1140G>T (n.*1140G>T) c.218G>T c.165G>T (p.Lys55Asn) | |
| 9 | g.127660060G>A | CA374931738 | STXBP1 | c.235G>A (p.Asp79Asn) c.277G>A (p.Asp93Asn) c.300G>A (p.Arg100=) c.*1141G>A (n.*1141G>A) c.219G>A c.166G>A (p.Asp56Asn) | |
| 9 | g.127660060G>C | CA374931737 | STXBP1 | c.235G>C (p.Asp79His) c.277G>C (p.Asp93His) c.300G>C (p.Arg100Ser) c.*1141G>C (n.*1141G>C) c.219G>C c.166G>C (p.Asp56His) | |
| 9 | g.127660060G>T | CA374931736 | STXBP1 | c.235G>T (p.Asp79Tyr) c.277G>T (p.Asp93Tyr) c.300G>T (p.Arg100Ser) c.*1141G>T (n.*1141G>T) c.219G>T c.166G>T (p.Asp56Tyr) | |
| 9 | g.127660061A= | CA1879905901 | STXBP1 | c.236A= (p.Asp79=) c.278A= (p.Asp93=) c.301A= (p.Thr101=) c.*1142A= (n.*1142A=) c.220A= c.167A= (p.Asp56=) |