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 |
|---|---|---|---|---|---|
| 10 | g.68885528T>A | CA5528217 | STOX1 | c.1732T>A (p.Phe578Ile) c.2068T>A (p.Phe690Ile) c.463+3418T>A (n.463+3418T>A) c.663+1069T>A (n.663+1069T>A) c.1402T>A (p.Phe468Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.68885528T>C | CA376881695 | STOX1 | c.1732T>C (p.Phe578Leu) c.2068T>C (p.Phe690Leu) c.463+3418T>C (n.463+3418T>C) c.663+1069T>C (n.663+1069T>C) c.1402T>C (p.Phe468Leu) | |
| 10 | g.68885528T>G | CA376881696 | STOX1 | c.1732T>G (p.Phe578Val) c.2068T>G (p.Phe690Val) c.463+3418T>G (n.463+3418T>G) c.663+1069T>G (n.663+1069T>G) c.1402T>G (p.Phe468Val) | |
| 10 | g.68885528T= | CA1917550021 | STOX1 | c.1732T= (p.Phe578=) c.2068T= (p.Phe690=) c.463+3418T= (n.463+3418T=) c.663+1069T= (n.663+1069T=) c.1402T= (p.Phe468=) | |
| 10 | g.68885529T>A | CA376881697 | STOX1 | c.1733T>A (p.Phe578Tyr) c.2069T>A (p.Phe690Tyr) c.463+3419T>A (n.463+3419T>A) c.663+1070T>A (n.663+1070T>A) c.1403T>A (p.Phe468Tyr) | |
| 10 | g.68885529T>C | CA376881699 | STOX1 | c.1733T>C (p.Phe578Ser) c.2069T>C (p.Phe690Ser) c.463+3419T>C (n.463+3419T>C) c.663+1070T>C (n.663+1070T>C) c.1403T>C (p.Phe468Ser) | |
| 10 | g.68885529T>G | CA376881698 | STOX1 | c.1733T>G (p.Phe578Cys) c.2069T>G (p.Phe690Cys) c.463+3419T>G (n.463+3419T>G) c.663+1070T>G (n.663+1070T>G) c.1403T>G (p.Phe468Cys) | |
| 10 | g.68885530C>A | CA376881700 | STOX1 | c.1734C>A (p.Phe578Leu) c.2070C>A (p.Phe690Leu) c.463+3420C>A (n.463+3420C>A) c.663+1071C>A (n.663+1071C>A) c.1404C>A (p.Phe468Leu) | |
| 10 | g.68885530C>G | CA376881701 | STOX1 | c.1734C>G (p.Phe578Leu) c.2070C>G (p.Phe690Leu) c.463+3420C>G (n.463+3420C>G) c.663+1071C>G (n.663+1071C>G) c.1404C>G (p.Phe468Leu) | |
| 10 | g.68885530C>T | CA470274060 | STOX1 | c.1734C>T (p.Phe578=) c.2070C>T (p.Phe690=) c.463+3420C>T (n.463+3420C>T) c.663+1071C>T (n.663+1071C>T) c.1404C>T (p.Phe468=) | |
| 10 | g.68885531A>C | CA470274061 | STOX1 | c.1735A>C (p.Arg579=) c.2071A>C (p.Arg691=) c.463+3421A>C (n.463+3421A>C) c.663+1072A>C (n.663+1072A>C) c.1405A>C (p.Arg469=) | |
| 10 | g.68885531A>G | CA376881702 | STOX1 | c.1735A>G (p.Arg579Gly) c.2071A>G (p.Arg691Gly) c.463+3421A>G (n.463+3421A>G) c.663+1072A>G (n.663+1072A>G) c.1405A>G (p.Arg469Gly) | |
| 10 | g.68885531A>T | CA376881703 | STOX1 | c.1735A>T (p.Arg579Ter) c.2071A>T (p.Arg691Ter) c.463+3421A>T (n.463+3421A>T) c.663+1072A>T (n.663+1072A>T) c.1405A>T (p.Arg469Ter) | |
| 10 | g.68885532G>A | CA376881704 | STOX1 | c.1736G>A (p.Arg579Lys) c.2072G>A (p.Arg691Lys) c.463+3422G>A (n.463+3422G>A) c.663+1073G>A (n.663+1073G>A) c.1406G>A (p.Arg469Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885532G>C | CA376881705 | STOX1 | c.1736G>C (p.Arg579Thr) c.2072G>C (p.Arg691Thr) c.463+3422G>C (n.463+3422G>C) c.663+1073G>C (n.663+1073G>C) c.1406G>C (p.Arg469Thr) | |
| 10 | g.68885532G= | CA1917550022 | STOX1 | c.1736G= (p.Arg579=) c.2072G= (p.Arg691=) c.463+3422G= (n.463+3422G=) c.663+1073G= (n.663+1073G=) c.1406G= (p.Arg469=) | |
| 10 | g.68885532G>T | CA376881706 | STOX1 | c.1736G>T (p.Arg579Ile) c.2072G>T (p.Arg691Ile) c.463+3422G>T (n.463+3422G>T) c.663+1073G>T (n.663+1073G>T) c.1406G>T (p.Arg469Ile) | |
| 10 | g.68885533A>C | CA376881707 | STOX1 | c.1737A>C (p.Arg579Ser) c.2073A>C (p.Arg691Ser) c.463+3423A>C (n.463+3423A>C) c.663+1074A>C (n.663+1074A>C) c.1407A>C (p.Arg469Ser) | |
| 10 | g.68885533A>G | CA470274062 | STOX1 | c.1737A>G (p.Arg579=) c.2073A>G (p.Arg691=) c.463+3423A>G (n.463+3423A>G) c.663+1074A>G (n.663+1074A>G) c.1407A>G (p.Arg469=) | |
| 10 | g.68885533A>T | CA376881708 | STOX1 | c.1737A>T (p.Arg579Ser) c.2073A>T (p.Arg691Ser) c.463+3423A>T (n.463+3423A>T) c.663+1074A>T (n.663+1074A>T) c.1407A>T (p.Arg469Ser) | gnomAD v4 |
| 10 | g.68885534G>A | CA5528218 | STOX1 | c.1738G>A (p.Gly580Ser) c.2074G>A (p.Gly692Ser) c.463+3424G>A (n.463+3424G>A) c.663+1075G>A (n.663+1075G>A) c.1408G>A (p.Gly470Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885534G>C | CA376881709 | STOX1 | c.1738G>C (p.Gly580Arg) c.2074G>C (p.Gly692Arg) c.463+3424G>C (n.463+3424G>C) c.663+1075G>C (n.663+1075G>C) c.1408G>C (p.Gly470Arg) | |
| 10 | g.68885534G= | CA1917550023 | STOX1 | c.1738G= (p.Gly580=) c.2074G= (p.Gly692=) c.463+3424G= (n.463+3424G=) c.663+1075G= (n.663+1075G=) c.1408G= (p.Gly470=) | |
| 10 | g.68885534G>T | CA376881710 | STOX1 | c.1738G>T (p.Gly580Cys) c.2074G>T (p.Gly692Cys) c.463+3424G>T (n.463+3424G>T) c.663+1075G>T (n.663+1075G>T) c.1408G>T (p.Gly470Cys) | |
| 10 | g.68885535G>A | CA376881713 | STOX1 | c.1739G>A (p.Gly580Asp) c.2075G>A (p.Gly692Asp) c.463+3425G>A (n.463+3425G>A) c.663+1076G>A (n.663+1076G>A) c.1409G>A (p.Gly470Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885535G>C | CA376881711 | STOX1 | c.1739G>C (p.Gly580Ala) c.2075G>C (p.Gly692Ala) c.463+3425G>C (n.463+3425G>C) c.663+1076G>C (n.663+1076G>C) c.1409G>C (p.Gly470Ala) | |
| 10 | g.68885535G= | CA1917550024 | STOX1 | c.1739G= (p.Gly580=) c.2075G= (p.Gly692=) c.463+3425G= (n.463+3425G=) c.663+1076G= (n.663+1076G=) c.1409G= (p.Gly470=) | |
| 10 | g.68885535G>T | CA376881712 | STOX1 | c.1739G>T (p.Gly580Val) c.2075G>T (p.Gly692Val) c.463+3425G>T (n.463+3425G>T) c.663+1076G>T (n.663+1076G>T) c.1409G>T (p.Gly470Val) | |
| 10 | g.68885536T>A | CA470274063 | STOX1 | c.1740T>A (p.Gly580=) c.2076T>A (p.Gly692=) c.463+3426T>A (n.463+3426T>A) c.663+1077T>A (n.663+1077T>A) c.1410T>A (p.Gly470=) | |
| 10 | g.68885536T>C | CA470274064 | STOX1 | c.1740T>C (p.Gly580=) c.2076T>C (p.Gly692=) c.463+3426T>C (n.463+3426T>C) c.663+1077T>C (n.663+1077T>C) c.1410T>C (p.Gly470=) | |
| 10 | g.68885536T>G | CA470274065 | STOX1 | c.1740T>G (p.Gly580=) c.2076T>G (p.Gly692=) c.463+3426T>G (n.463+3426T>G) c.663+1077T>G (n.663+1077T>G) c.1410T>G (p.Gly470=) | |
| 10 | g.68885537C>A | CA376881714 | STOX1 | c.1741C>A (p.His581Asn) c.2077C>A (p.His693Asn) c.463+3427C>A (n.463+3427C>A) c.663+1078C>A (n.663+1078C>A) c.1411C>A (p.His471Asn) | |
| 10 | g.68885537C>G | CA376881715 | STOX1 | c.1741C>G (p.His581Asp) c.2077C>G (p.His693Asp) c.463+3427C>G (n.463+3427C>G) c.663+1078C>G (n.663+1078C>G) c.1411C>G (p.His471Asp) | |
| 10 | g.68885537C>T | CA376881716 | STOX1 | c.1741C>T (p.His581Tyr) c.2077C>T (p.His693Tyr) c.463+3427C>T (n.463+3427C>T) c.663+1078C>T (n.663+1078C>T) c.1411C>T (p.His471Tyr) | |
| 10 | g.68885538A>C | CA376881717 | STOX1 | c.1742A>C (p.His581Pro) c.2078A>C (p.His693Pro) c.463+3428A>C (n.463+3428A>C) c.663+1079A>C (n.663+1079A>C) c.1412A>C (p.His471Pro) | |
| 10 | g.68885538A>G | CA376881718 | STOX1 | c.1742A>G (p.His581Arg) c.2078A>G (p.His693Arg) c.463+3428A>G (n.463+3428A>G) c.663+1079A>G (n.663+1079A>G) c.1412A>G (p.His471Arg) | |
| 10 | g.68885538A>T | CA376881719 | STOX1 | c.1742A>T (p.His581Leu) c.2078A>T (p.His693Leu) c.463+3428A>T (n.463+3428A>T) c.663+1079A>T (n.663+1079A>T) c.1412A>T (p.His471Leu) | |
| 10 | g.68885538_68885541dup | CA2574568093 | STOX1 | c.1742_1745dup (p.Phe583ProfsTer13) c.2078_2081dup (p.Phe695ProfsTer13) c.463+3428_463+3431dup (n.463+3428_463+3431dup) c.663+1079_663+1082dup (n.663+1079_663+1082dup) c.1412_1415dup (p.Phe473ProfsTer13) | |
| 10 | g.68885539C>A | CA376881720 | STOX1 | c.1743C>A (p.His581Gln) c.2079C>A (p.His693Gln) c.463+3429C>A (n.463+3429C>A) c.663+1080C>A (n.663+1080C>A) c.1413C>A (p.His471Gln) | gnomAD v4 |
| 10 | g.68885539C>G | CA376881721 | STOX1 | c.1743C>G (p.His581Gln) c.2079C>G (p.His693Gln) c.463+3429C>G (n.463+3429C>G) c.663+1080C>G (n.663+1080C>G) c.1413C>G (p.His471Gln) | |
| 10 | g.68885539C>T | CA470274066 | STOX1 | c.1743C>T (p.His581=) c.2079C>T (p.His693=) c.463+3429C>T (n.463+3429C>T) c.663+1080C>T (n.663+1080C>T) c.1413C>T (p.His471=) | gnomAD v4 |
| 10 | g.68885540C>A | CA376881722 | STOX1 | c.1744C>A (p.Leu582Ile) c.2080C>A (p.Leu694Ile) c.463+3430C>A (n.463+3430C>A) c.663+1081C>A (n.663+1081C>A) c.1414C>A (p.Leu472Ile) | |
| 10 | g.68885540C= | CA1917550025 | STOX1 | c.1744C= (p.Leu582=) c.2080C= (p.Leu694=) c.463+3430C= (n.463+3430C=) c.663+1081C= (n.663+1081C=) c.1414C= (p.Leu472=) | |
| 10 | g.68885540C>G | CA5528220 | STOX1 | c.1744C>G (p.Leu582Val) c.2080C>G (p.Leu694Val) c.463+3430C>G (n.463+3430C>G) c.663+1081C>G (n.663+1081C>G) c.1414C>G (p.Leu472Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885540C>T | CA5528219 | STOX1 | c.1744C>T (p.Leu582Phe) c.2080C>T (p.Leu694Phe) c.463+3430C>T (n.463+3430C>T) c.663+1081C>T (n.663+1081C>T) c.1414C>T (p.Leu472Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885541T>A | CA376881725 | STOX1 | c.1745T>A (p.Leu582His) c.2081T>A (p.Leu694His) c.463+3431T>A (n.463+3431T>A) c.663+1082T>A (n.663+1082T>A) c.1415T>A (p.Leu472His) | |
| 10 | g.68885541T>C | CA376881724 | STOX1 | c.1745T>C (p.Leu582Pro) c.2081T>C (p.Leu694Pro) c.463+3431T>C (n.463+3431T>C) c.663+1082T>C (n.663+1082T>C) c.1415T>C (p.Leu472Pro) | |
| 10 | g.68885541T>G | CA376881723 | STOX1 | c.1745T>G (p.Leu582Arg) c.2081T>G (p.Leu694Arg) c.463+3431T>G (n.463+3431T>G) c.663+1082T>G (n.663+1082T>G) c.1415T>G (p.Leu472Arg) | |
| 10 | g.68885542C>A | CA470274068 | STOX1 | c.1746C>A (p.Leu582=) c.2082C>A (p.Leu694=) c.463+3432C>A (n.463+3432C>A) c.663+1083C>A (n.663+1083C>A) c.1416C>A (p.Leu472=) | |
| 10 | g.68885542C= | CA1917550026 | STOX1 | c.1746C= (p.Leu582=) c.2082C= (p.Leu694=) c.463+3432C= (n.463+3432C=) c.663+1083C= (n.663+1083C=) c.1416C= (p.Leu472=) |