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 |
|---|---|---|---|---|---|
| 17 | g.75835417_75835429delinsTCTGCACAGCGCG | CA2275706451 | UNC13D | c.763_775delinsCGCGCTGTGCAGA (p.Arg255=) c.1828_1840delinsCGCGCTGTGCAGA (p.Arg610=) n.2098_2110delinsCGCGCTGTGCAGA c.1825_1837delinsCGCGCTGTGCAGA (p.Arg609=) c.1219_1231delinsCGCGCTGTGCAGA (p.Arg407=) | |
| 17 | g.75835424_75835435del | CA252025 | UNC13D | c.763_774del (p.Arg255_Gln258del) c.1828_1839del (p.Arg610_Gln613del) n.2098_2109del c.1825_1836del (p.Arg609_Gln612del) c.1219_1230del (p.Arg407_Gln410del) | ClinVar dbSNP gnomAD v4 |
| 17 | g.75835424del | CA2639895681 | UNC13D | c.768del (p.Val257CysfsTer23) c.1833del (p.Val612CysfsTer12) c.561del (p.Val188CysfsTer?) n.2103del c.1830del (p.Val611CysfsTer12) c.1224del (p.Val409CysfsTer12) | gnomAD v4 |
| 17 | g.75835424A= | CA2275706461 | UNC13D | c.768T= (p.Ala256=) c.1833T= (p.Ala611=) c.561T= (p.Ala187=) n.2103T= c.1830T= (p.Ala610=) c.1224T= (p.Ala408=) | |
| 17 | g.75835424A>C | CA502049643 | UNC13D | c.768T>G (p.Ala256=) c.1833T>G (p.Ala611=) c.561T>G (p.Ala187=) n.2103T>G c.1830T>G (p.Ala610=) c.1224T>G (p.Ala408=) | |
| 17 | g.75835424A>G | CA502049644 | UNC13D | c.768T>C (p.Ala256=) c.1833T>C (p.Ala611=) c.561T>C (p.Ala187=) n.2103T>C c.1830T>C (p.Ala610=) c.1224T>C (p.Ala408=) | |
| 17 | g.75835424A>T | CA8772787 | UNC13D | c.768T>A (p.Ala256=) c.1833T>A (p.Ala611=) c.561T>A (p.Ala187=) n.2103T>A c.1830T>A (p.Ala610=) c.1224T>A (p.Ala408=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.75835425G>A | CA401092162 | UNC13D | c.767C>T (p.Ala256Val) c.1832C>T (p.Ala611Val) c.560C>T (p.Ala187Val) n.2102C>T c.1829C>T (p.Ala610Val) c.1223C>T (p.Ala408Val) | gnomAD v4 |
| 17 | g.75835425G>C | CA401092165 | UNC13D | c.767C>G (p.Ala256Gly) c.1832C>G (p.Ala611Gly) c.560C>G (p.Ala187Gly) n.2102C>G c.1829C>G (p.Ala610Gly) c.1223C>G (p.Ala408Gly) | |
| 17 | g.75835425G>T | CA401092168 | UNC13D | c.767C>A (p.Ala256Asp) c.1832C>A (p.Ala611Asp) c.560C>A (p.Ala187Asp) n.2102C>A c.1829C>A (p.Ala610Asp) c.1223C>A (p.Ala408Asp) | gnomAD v4 |
| 17 | g.75835426C>A | CA401092170 | UNC13D | c.766G>T (p.Ala256Ser) c.1831G>T (p.Ala611Ser) c.559G>T (p.Ala187Ser) n.2101G>T c.1828G>T (p.Ala610Ser) c.1222G>T (p.Ala408Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.75835426C= | CA2275706462 | UNC13D | c.766G= (p.Ala256=) c.1831G= (p.Ala611=) c.559G= (p.Ala187=) n.2101G= c.1828G= (p.Ala610=) c.1222G= (p.Ala408=) | |
| 17 | g.75835426C>G | CA401092173 | UNC13D | c.766G>C (p.Ala256Pro) c.1831G>C (p.Ala611Pro) c.559G>C (p.Ala187Pro) n.2101G>C c.1828G>C (p.Ala610Pro) c.1222G>C (p.Ala408Pro) | |
| 17 | g.75835426C>T | CA8772788 | UNC13D | c.766G>A (p.Ala256Thr) c.1831G>A (p.Ala611Thr) c.559G>A (p.Ala187Thr) n.2101G>A c.1828G>A (p.Ala610Thr) c.1222G>A (p.Ala408Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75835427G>A | CA8772789 | UNC13D | c.765C>T (p.Arg255=) c.1830C>T (p.Arg610=) c.558C>T (p.Arg186=) n.2100C>T c.1827C>T (p.Arg609=) c.1221C>T (p.Arg407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75835427G>C | CA502049648 | UNC13D | c.765C>G (p.Arg255=) c.1830C>G (p.Arg610=) c.558C>G (p.Arg186=) n.2100C>G c.1827C>G (p.Arg609=) c.1221C>G (p.Arg407=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.75835427G= | CA2275706463 | UNC13D | c.765C= (p.Arg255=) c.1830C= (p.Arg610=) c.558C= (p.Arg186=) n.2100C= c.1827C= (p.Arg609=) c.1221C= (p.Arg407=) | |
| 17 | g.75835427G>T | CA502049649 | UNC13D | c.765C>A (p.Arg255=) c.1830C>A (p.Arg610=) c.558C>A (p.Arg186=) n.2100C>A c.1827C>A (p.Arg609=) c.1221C>A (p.Arg407=) | ClinVar gnomAD v4 |
| 17 | g.75835428_75835445del | CA2580095168 | UNC13D | c.748_765del (p.Leu250_Arg255del) c.1813_1830del (p.Leu605_Arg610del) c.541_558del (p.Leu181_Arg186del) n.2083_2100del c.1810_1827del (p.Leu604_Arg609del) c.1204_1221del (p.Leu402_Arg407del) | ClinVar dbSNP |
| 17 | g.75835428C>A | CA401092188 | UNC13D | c.764G>T (p.Arg255Leu) c.1829G>T (p.Arg610Leu) c.557G>T (p.Arg186Leu) n.2099G>T c.1826G>T (p.Arg609Leu) c.1220G>T (p.Arg407Leu) | dbSNP |
| 17 | g.75835428C= | CA2275706466 | UNC13D | c.764G= (p.Arg255=) c.1829G= (p.Arg610=) c.557G= (p.Arg186=) n.2099G= c.1826G= (p.Arg609=) c.1220G= (p.Arg407=) | |
| 17 | g.75835428C>G | CA401092191 | UNC13D | c.764G>C (p.Arg255Pro) c.1829G>C (p.Arg610Pro) c.557G>C (p.Arg186Pro) n.2099G>C c.1826G>C (p.Arg609Pro) c.1220G>C (p.Arg407Pro) | |
| 17 | g.75835428C>T | CA8772790 | UNC13D | c.764G>A (p.Arg255His) c.1829G>A (p.Arg610His) c.557G>A (p.Arg186His) n.2099G>A c.1826G>A (p.Arg609His) c.1220G>A (p.Arg407His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75835428_75835429insT | CA2695226980 | UNC13D | c.763_764insA (p.Arg255GlnfsTer7) c.1828_1829insA (p.Arg610GlnfsTer7) c.556_557insA (p.Arg186GlnfsTer?) n.2098_2099insA c.1825_1826insA (p.Arg609GlnfsTer7) c.1219_1220insA (p.Arg407GlnfsTer7) | |
| 17 | g.75835429del | CA2639895714 | UNC13D | c.763del (p.Arg255AlafsTer25) c.1828del (p.Arg610AlafsTer14) c.556del (p.Arg186AlafsTer?) n.2098del c.1825del (p.Arg609AlafsTer14) c.1219del (p.Arg407AlafsTer14) | gnomAD v4 |
| 17 | g.75835429G>A | CA8772791 | UNC13D | c.763C>T (p.Arg255Cys) c.1828C>T (p.Arg610Cys) c.556C>T (p.Arg186Cys) n.2098C>T c.1825C>T (p.Arg609Cys) c.1219C>T (p.Arg407Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.75835429G>C | CA401092198 | UNC13D | c.763C>G (p.Arg255Gly) c.1828C>G (p.Arg610Gly) c.556C>G (p.Arg186Gly) n.2098C>G c.1825C>G (p.Arg609Gly) c.1219C>G (p.Arg407Gly) | |
| 17 | g.75835429G= | CA2275706469 | UNC13D | c.763C= (p.Arg255=) c.1828C= (p.Arg610=) c.556C= (p.Arg186=) n.2098C= c.1825C= (p.Arg609=) c.1219C= (p.Arg407=) | |
| 17 | g.75835429G>T | CA401092205 | UNC13D | c.763C>A (p.Arg255Ser) c.1828C>A (p.Arg610Ser) c.556C>A (p.Arg186Ser) n.2098C>A c.1825C>A (p.Arg609Ser) c.1219C>A (p.Arg407Ser) | gnomAD v4 |
| 17 | g.75835431_75835433dup | CA919896597 | UNC13D | c.761_763dup (p.Gln254_Arg255insGln) c.1826_1828dup (p.Gln609_Arg610insGln) c.554_556dup (p.Gln185_Arg186insGln) n.2096_2098dup c.1823_1825dup (p.Gln608_Arg609insGln) c.1217_1219dup (p.Gln406_Arg407insGln) | dbSNP |
| 17 | g.75835430C>A | CA401092213 | UNC13D | c.762G>T (p.Gln254His) c.1827G>T (p.Gln609His) c.555G>T (p.Gln185His) n.2097G>T c.1824G>T (p.Gln608His) c.1218G>T (p.Gln406His) | gnomAD v4 |
| 17 | g.75835430C>G | CA401092214 | UNC13D | c.762G>C (p.Gln254His) c.1827G>C (p.Gln609His) c.555G>C (p.Gln185His) n.2097G>C c.1824G>C (p.Gln608His) c.1218G>C (p.Gln406His) | |
| 17 | g.75835430C>T | CA502049654 | UNC13D | c.762G>A (p.Gln254=) c.1827G>A (p.Gln609=) c.555G>A (p.Gln185=) n.2097G>A c.1824G>A (p.Gln608=) c.1218G>A (p.Gln406=) | |
| 17 | g.75835431T>A | CA401092218 | UNC13D | c.761A>T (p.Gln254Leu) c.1826A>T (p.Gln609Leu) c.554A>T (p.Gln185Leu) n.2096A>T c.1823A>T (p.Gln608Leu) c.1217A>T (p.Gln406Leu) | |
| 17 | g.75835431T>C | CA401092221 | UNC13D | c.761A>G (p.Gln254Arg) c.1826A>G (p.Gln609Arg) c.554A>G (p.Gln185Arg) n.2096A>G c.1823A>G (p.Gln608Arg) c.1217A>G (p.Gln406Arg) | gnomAD v4 |
| 17 | g.75835431T>G | CA401092224 | UNC13D | c.761A>C (p.Gln254Pro) c.1826A>C (p.Gln609Pro) c.554A>C (p.Gln185Pro) n.2096A>C c.1823A>C (p.Gln608Pro) c.1217A>C (p.Gln406Pro) | |
| 17 | g.75835432G>A | CA401092226 | UNC13D | c.760C>T (p.Gln254Ter) c.1825C>T (p.Gln609Ter) c.553C>T (p.Gln185Ter) n.2095C>T c.1822C>T (p.Gln608Ter) c.1216C>T (p.Gln406Ter) | ClinVar gnomAD v4 |
| 17 | g.75835432G>C | CA401092228 | UNC13D | c.760C>G (p.Gln254Glu) c.1825C>G (p.Gln609Glu) c.553C>G (p.Gln185Glu) n.2095C>G c.1822C>G (p.Gln608Glu) c.1216C>G (p.Gln406Glu) | |
| 17 | g.75835432G>T | CA401092231 | UNC13D | c.760C>A (p.Gln254Lys) c.1825C>A (p.Gln609Lys) c.553C>A (p.Gln185Lys) n.2095C>A c.1822C>A (p.Gln608Lys) c.1216C>A (p.Gln406Lys) | |
| 17 | g.75835433C>A | CA502049658 | UNC13D | c.759G>T (p.Val253=) c.1824G>T (p.Val608=) c.552G>T (p.Val184=) n.2094G>T c.1821G>T (p.Val607=) c.1215G>T (p.Val405=) | |
| 17 | g.75835433C= | CA2275706472 | UNC13D | c.759G= (p.Val253=) c.1824G= (p.Val608=) c.552G= (p.Val184=) n.2094G= c.1821G= (p.Val607=) c.1215G= (p.Val405=) | |
| 17 | g.75835433C>G | CA502049660 | UNC13D | c.759G>C (p.Val253=) c.1824G>C (p.Val608=) c.552G>C (p.Val184=) n.2094G>C c.1821G>C (p.Val607=) c.1215G>C (p.Val405=) | |
| 17 | g.75835433C>T | CA502049662 | UNC13D | c.759G>A (p.Val253=) c.1824G>A (p.Val608=) c.552G>A (p.Val184=) n.2094G>A c.1821G>A (p.Val607=) c.1215G>A (p.Val405=) | |
| 17 | g.75835434A>C | CA401092234 | UNC13D | c.758T>G (p.Val253Gly) c.1823T>G (p.Val608Gly) c.551T>G (p.Val184Gly) n.2093T>G c.1820T>G (p.Val607Gly) c.1214T>G (p.Val405Gly) | |
| 17 | g.75835434A>G | CA401092243 | UNC13D | c.758T>C (p.Val253Ala) c.1823T>C (p.Val608Ala) c.551T>C (p.Val184Ala) n.2093T>C c.1820T>C (p.Val607Ala) c.1214T>C (p.Val405Ala) | |
| 17 | g.75835434A>T | CA401092246 | UNC13D | c.758T>A (p.Val253Glu) c.1823T>A (p.Val608Glu) c.551T>A (p.Val184Glu) n.2093T>A c.1820T>A (p.Val607Glu) c.1214T>A (p.Val405Glu) | |
| 17 | g.75835434dup | CA2275706474 | UNC13D | c.758dup (p.Gln254AlafsTer8) c.1823dup (p.Gln609AlafsTer8) c.551dup (p.Gln185AlafsTer?) n.2093dup c.1820dup (p.Gln608AlafsTer8) c.1214dup (p.Gln406AlafsTer8) | dbSNP |
| 17 | g.75835435C>A | CA401092255 | UNC13D | c.757G>T (p.Val253Leu) c.1822G>T (p.Val608Leu) c.550G>T (p.Val184Leu) n.2092G>T c.1819G>T (p.Val607Leu) c.1213G>T (p.Val405Leu) | gnomAD v4 |
| 17 | g.75835435C= | CA2275706476 | UNC13D | c.757G= (p.Val253=) c.1822G= (p.Val608=) c.550G= (p.Val184=) n.2092G= c.1819G= (p.Val607=) c.1213G= (p.Val405=) | |
| 17 | g.75835435C>G | CA401092252 | UNC13D | c.757G>C (p.Val253Leu) c.1822G>C (p.Val608Leu) c.550G>C (p.Val184Leu) n.2092G>C c.1819G>C (p.Val607Leu) c.1213G>C (p.Val405Leu) |