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 |
|---|---|---|---|---|---|
| 13 | g.47988538_47988541del | CA2089813762 | SUCLA2 | c.8+3_8+6del c.360+3_360+6del c.534+3_534+6del c.*327+3_*327+6del c.90+12642_90+12645del (n.90+12642_90+12645del) c.324+3_324+6del c.537_540del (p.Ser180IlefsTer9) c.628+3_628+6del c.297+3_297+6del c.132+3_132+6del n.578+3_578+6del | dbSNP gnomAD v4 |
| 13 | g.47988540C>A | CA388150181 | SUCLA2 | c.8+1G>T c.360+1G>T (n.360+1G>T) c.534+1G>T (n.534+1G>T) c.*327+1G>T (n.*327+1G>T) c.90+12640G>T (n.90+12640G>T) c.324+1G>T (n.324+1G>T) c.535G>T (p.Val179Leu) c.628+1G>T (n.628+1G>T) c.297+1G>T (n.297+1G>T) c.132+1G>T (n.132+1G>T) n.578+1G>T | |
| 13 | g.47988540C= | CA2089813764 | SUCLA2 | c.8+1G= c.360+1G= (n.360+1G=) c.534+1G= (n.534+1G=) c.*327+1G= (n.*327+1G=) c.90+12640G= (n.90+12640G=) c.324+1G= (n.324+1G=) c.535G= (p.Val179=) c.628+1G= (n.628+1G=) c.297+1G= (n.297+1G=) c.132+1G= (n.132+1G=) n.578+1G= | |
| 13 | g.47988540C>G | CA388150179 | SUCLA2 | c.8+1G>C c.360+1G>C (n.360+1G>C) c.534+1G>C (n.534+1G>C) c.*327+1G>C (n.*327+1G>C) c.90+12640G>C (n.90+12640G>C) c.324+1G>C (n.324+1G>C) c.535G>C (p.Val179Leu) c.628+1G>C (n.628+1G>C) c.297+1G>C (n.297+1G>C) c.132+1G>C (n.132+1G>C) n.578+1G>C | |
| 13 | g.47988540C>T | CA342003 | SUCLA2 | c.8+1G>A c.360+1G>A (n.360+1G>A) c.534+1G>A (n.534+1G>A) c.*327+1G>A (n.*327+1G>A) c.90+12640G>A (n.90+12640G>A) c.324+1G>A (n.324+1G>A) c.535G>A (p.Val179Met) c.628+1G>A (n.628+1G>A) c.297+1G>A (n.297+1G>A) c.132+1G>A (n.132+1G>A) n.578+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.47988541T>A | CA388150183 | SUCLA2 | c.8A>T c.360A>T (p.Gln120His) c.534A>T (p.Gln178His) c.*327A>T (n.*327A>T) c.90+12639A>T (n.90+12639A>T) c.324A>T (p.Gln108His) c.628A>T (n.628A>T) c.297A>T (p.Gln99His) c.132A>T (p.Gln44His) n.578A>T | ClinVar dbSNP |
| 13 | g.47988541T>C | CA483555497 | SUCLA2 | c.8A>G c.360A>G (p.Gln120=) c.534A>G (p.Gln178=) c.*327A>G (n.*327A>G) c.90+12639A>G (n.90+12639A>G) c.324A>G (p.Gln108=) c.628A>G (n.628A>G) c.297A>G (p.Gln99=) c.132A>G (p.Gln44=) n.578A>G | |
| 13 | g.47988541T>G | CA388150185 | SUCLA2 | c.8A>C c.360A>C (p.Gln120His) c.534A>C (p.Gln178His) c.*327A>C (n.*327A>C) c.90+12639A>C (n.90+12639A>C) c.324A>C (p.Gln108His) c.628A>C (n.628A>C) c.297A>C (p.Gln99His) c.132A>C (p.Gln44His) n.578A>C | |
| 13 | g.47988542T>A | CA388150188 | SUCLA2 | c.7A>T c.359A>T (p.Gln120Leu) c.533A>T (p.Gln178Leu) c.*326A>T (n.*326A>T) c.90+12638A>T (n.90+12638A>T) c.323A>T (p.Gln108Leu) c.627A>T (n.627A>T) c.296A>T (p.Gln99Leu) c.131A>T (p.Gln44Leu) n.577A>T | |
| 13 | g.47988542T>C | CA388150189 | SUCLA2 | c.7A>G c.359A>G (p.Gln120Arg) c.533A>G (p.Gln178Arg) c.*326A>G (n.*326A>G) c.90+12638A>G (n.90+12638A>G) c.323A>G (p.Gln108Arg) c.627A>G (n.627A>G) c.296A>G (p.Gln99Arg) c.131A>G (p.Gln44Arg) n.577A>G | |
| 13 | g.47988542T>G | CA388150192 | SUCLA2 | c.7A>C c.359A>C (p.Gln120Pro) c.533A>C (p.Gln178Pro) c.*326A>C (n.*326A>C) c.90+12638A>C (n.90+12638A>C) c.323A>C (p.Gln108Pro) c.627A>C (n.627A>C) c.296A>C (p.Gln99Pro) c.131A>C (p.Gln44Pro) n.577A>C | |
| 13 | g.47988543G>A | CA388150194 | SUCLA2 | c.6C>T c.358C>T (p.Gln120Ter) c.532C>T (p.Gln178Ter) c.*325C>T (n.*325C>T) c.90+12637C>T (n.90+12637C>T) c.322C>T (p.Gln108Ter) c.626C>T (n.626C>T) c.295C>T (p.Gln99Ter) c.130C>T (p.Gln44Ter) n.576C>T | COSMIC |
| 13 | g.47988543G>C | CA388150197 | SUCLA2 | c.6C>G c.358C>G (p.Gln120Glu) c.532C>G (p.Gln178Glu) c.*325C>G (n.*325C>G) c.90+12637C>G (n.90+12637C>G) c.322C>G (p.Gln108Glu) c.626C>G (n.626C>G) c.295C>G (p.Gln99Glu) c.130C>G (p.Gln44Glu) n.576C>G | |
| 13 | g.47988543G>T | CA388150198 | SUCLA2 | c.6C>A c.358C>A (p.Gln120Lys) c.532C>A (p.Gln178Lys) c.*325C>A (n.*325C>A) c.90+12637C>A (n.90+12637C>A) c.322C>A (p.Gln108Lys) c.626C>A (n.626C>A) c.295C>A (p.Gln99Lys) c.130C>A (p.Gln44Lys) n.576C>A | |
| 13 | g.47988544A>C | CA388150201 | SUCLA2 | c.5T>G c.357T>G (p.Phe119Leu) c.531T>G (p.Phe177Leu) c.*324T>G (n.*324T>G) c.90+12636T>G (n.90+12636T>G) c.321T>G (p.Phe107Leu) c.625T>G (n.625T>G) c.294T>G (p.Phe98Leu) c.129T>G (p.Phe43Leu) n.575T>G | |
| 13 | g.47988544A>G | CA483555498 | SUCLA2 | c.5T>C c.357T>C (p.Phe119=) c.531T>C (p.Phe177=) c.*324T>C (n.*324T>C) c.90+12636T>C (n.90+12636T>C) c.321T>C (p.Phe107=) c.625T>C (n.625T>C) c.294T>C (p.Phe98=) c.129T>C (p.Phe43=) n.575T>C | |
| 13 | g.47988544A>T | CA388150203 | SUCLA2 | c.5T>A c.357T>A (p.Phe119Leu) c.531T>A (p.Phe177Leu) c.*324T>A (n.*324T>A) c.90+12636T>A (n.90+12636T>A) c.321T>A (p.Phe107Leu) c.625T>A (n.625T>A) c.294T>A (p.Phe98Leu) c.129T>A (p.Phe43Leu) n.575T>A | |
| 13 | g.47988545A>C | CA388150205 | SUCLA2 | c.4T>G c.356T>G (p.Phe119Cys) c.530T>G (p.Phe177Cys) c.*323T>G (n.*323T>G) c.90+12635T>G (n.90+12635T>G) c.320T>G (p.Phe107Cys) c.624T>G (n.624T>G) c.293T>G (p.Phe98Cys) c.128T>G (p.Phe43Cys) n.574T>G | |
| 13 | g.47988545A>G | CA388150207 | SUCLA2 | c.4T>C c.356T>C (p.Phe119Ser) c.530T>C (p.Phe177Ser) c.*323T>C (n.*323T>C) c.90+12635T>C (n.90+12635T>C) c.320T>C (p.Phe107Ser) c.624T>C (n.624T>C) c.293T>C (p.Phe98Ser) c.128T>C (p.Phe43Ser) n.574T>C | |
| 13 | g.47988545A>T | CA388150209 | SUCLA2 | c.4T>A c.356T>A (p.Phe119Tyr) c.530T>A (p.Phe177Tyr) c.*323T>A (n.*323T>A) c.90+12635T>A (n.90+12635T>A) c.320T>A (p.Phe107Tyr) c.624T>A (n.624T>A) c.293T>A (p.Phe98Tyr) c.128T>A (p.Phe43Tyr) n.574T>A | |
| 13 | g.47988546A>C | CA388150215 | SUCLA2 | c.3T>G c.355T>G (p.Phe119Val) c.529T>G (p.Phe177Val) c.*322T>G (n.*322T>G) c.90+12634T>G (n.90+12634T>G) c.319T>G (p.Phe107Val) c.623T>G (n.623T>G) c.292T>G (p.Phe98Val) c.127T>G (p.Phe43Val) n.573T>G | |
| 13 | g.47988546A>G | CA388150212 | SUCLA2 | c.3T>C c.355T>C (p.Phe119Leu) c.529T>C (p.Phe177Leu) c.*322T>C (n.*322T>C) c.90+12634T>C (n.90+12634T>C) c.319T>C (p.Phe107Leu) c.623T>C (n.623T>C) c.292T>C (p.Phe98Leu) c.127T>C (p.Phe43Leu) n.573T>C | |
| 13 | g.47988546A>T | CA388150214 | SUCLA2 | c.3T>A c.355T>A (p.Phe119Ile) c.529T>A (p.Phe177Ile) c.*322T>A (n.*322T>A) c.90+12634T>A (n.90+12634T>A) c.319T>A (p.Phe107Ile) c.623T>A (n.623T>A) c.292T>A (p.Phe98Ile) c.127T>A (p.Phe43Ile) n.573T>A | |
| 13 | g.47988547T>A | CA483555499 | SUCLA2 | c.2A>T c.354A>T (p.Ser118=) c.528A>T (p.Ser176=) c.*321A>T (n.*321A>T) c.90+12633A>T (n.90+12633A>T) c.318A>T (p.Ser106=) c.622A>T (n.622A>T) c.291A>T (p.Ser97=) c.126A>T (p.Ser42=) n.572A>T | |
| 13 | g.47988547T>C | CA6977993 | SUCLA2 | c.2A>G c.354A>G (p.Ser118=) c.528A>G (p.Ser176=) c.*321A>G (n.*321A>G) c.90+12633A>G (n.90+12633A>G) c.318A>G (p.Ser106=) c.622A>G (n.622A>G) c.291A>G (p.Ser97=) c.126A>G (p.Ser42=) n.572A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.47988547T>G | CA483555500 | SUCLA2 | c.2A>C c.354A>C (p.Ser118=) c.528A>C (p.Ser176=) c.*321A>C (n.*321A>C) c.90+12633A>C (n.90+12633A>C) c.318A>C (p.Ser106=) c.622A>C (n.622A>C) c.291A>C (p.Ser97=) c.126A>C (p.Ser42=) n.572A>C | |
| 13 | g.47988547T= | CA2089813765 | SUCLA2 | c.2A= c.354A= (p.Ser118=) c.528A= (p.Ser176=) c.*321A= (n.*321A=) c.90+12633A= (n.90+12633A=) c.318A= (p.Ser106=) c.622A= (n.622A=) c.291A= (p.Ser97=) c.126A= (p.Ser42=) n.572A= | |
| 13 | g.47988548G>A | CA388150220 | SUCLA2 | c.1C>T c.353C>T (p.Ser118Leu) c.527C>T (p.Ser176Leu) c.*320C>T (n.*320C>T) c.90+12632C>T (n.90+12632C>T) c.317C>T (p.Ser106Leu) c.621C>T (n.621C>T) c.290C>T (p.Ser97Leu) c.125C>T (p.Ser42Leu) n.571C>T | |
| 13 | g.47988548G>C | CA388150222 | SUCLA2 | c.1C>G c.353C>G (p.Ser118Ter) c.527C>G (p.Ser176Ter) c.*320C>G (n.*320C>G) c.90+12632C>G (n.90+12632C>G) c.317C>G (p.Ser106Ter) c.621C>G (n.621C>G) c.290C>G (p.Ser97Ter) c.125C>G (p.Ser42Ter) n.571C>G | |
| 13 | g.47988548G>T | CA388150224 | SUCLA2 | c.1C>A c.353C>A (p.Ser118Ter) c.527C>A (p.Ser176Ter) c.*320C>A (n.*320C>A) c.90+12632C>A (n.90+12632C>A) c.317C>A (p.Ser106Ter) c.621C>A (n.621C>A) c.290C>A (p.Ser97Ter) c.125C>A (p.Ser42Ter) n.571C>A | gnomAD v3 gnomAD v4 |
| 13 | g.47988549A>C | CA388150226 | SUCLA2 | c.352T>G (p.Ser118Ala) c.526T>G (p.Ser176Ala) c.*319T>G (n.*319T>G) c.90+12631T>G (n.90+12631T>G) c.316T>G (p.Ser106Ala) c.620T>G (n.620T>G) c.289T>G (p.Ser97Ala) c.124T>G (p.Ser42Ala) n.570T>G | |
| 13 | g.47988549A>G | CA388150228 | SUCLA2 | c.352T>C (p.Ser118Pro) c.526T>C (p.Ser176Pro) c.*319T>C (n.*319T>C) c.90+12631T>C (n.90+12631T>C) c.316T>C (p.Ser106Pro) c.620T>C (n.620T>C) c.289T>C (p.Ser97Pro) c.124T>C (p.Ser42Pro) n.570T>C | gnomAD v4 |
| 13 | g.47988549A>T | CA388150229 | SUCLA2 | c.352T>A (p.Ser118Thr) c.526T>A (p.Ser176Thr) c.*319T>A (n.*319T>A) c.90+12631T>A (n.90+12631T>A) c.316T>A (p.Ser106Thr) c.620T>A (n.620T>A) c.289T>A (p.Ser97Thr) c.124T>A (p.Ser42Thr) n.570T>A | |
| 13 | g.47988550C>A | CA388150230 | SUCLA2 | c.351G>T (p.Arg117Ser) c.525G>T (p.Arg175Ser) c.*318G>T (n.*318G>T) c.90+12630G>T (n.90+12630G>T) c.315G>T (p.Arg105Ser) c.619G>T (n.619G>T) c.288G>T (p.Arg96Ser) c.123G>T (p.Arg41Ser) n.569G>T | |
| 13 | g.47988550C>G | CA388150233 | SUCLA2 | c.351G>C (p.Arg117Ser) c.525G>C (p.Arg175Ser) c.*318G>C (n.*318G>C) c.90+12630G>C (n.90+12630G>C) c.315G>C (p.Arg105Ser) c.619G>C (n.619G>C) c.288G>C (p.Arg96Ser) c.123G>C (p.Arg41Ser) n.569G>C | |
| 13 | g.47988550C>T | CA483555501 | SUCLA2 | c.351G>A (p.Arg117=) c.525G>A (p.Arg175=) c.*318G>A (n.*318G>A) c.90+12630G>A (n.90+12630G>A) c.315G>A (p.Arg105=) c.619G>A (n.619G>A) c.288G>A (p.Arg96=) c.123G>A (p.Arg41=) n.569G>A | |
| 13 | g.47988551C>A | CA388150236 | SUCLA2 | c.350G>T (p.Arg117Met) c.524G>T (p.Arg175Met) c.*317G>T (n.*317G>T) c.90+12629G>T (n.90+12629G>T) c.314G>T (p.Arg105Met) c.618G>T (n.618G>T) c.287G>T (p.Arg96Met) c.122G>T (p.Arg41Met) n.568G>T | |
| 13 | g.47988551C>G | CA388150238 | SUCLA2 | c.350G>C (p.Arg117Thr) c.524G>C (p.Arg175Thr) c.*317G>C (n.*317G>C) c.90+12629G>C (n.90+12629G>C) c.314G>C (p.Arg105Thr) c.618G>C (n.618G>C) c.287G>C (p.Arg96Thr) c.122G>C (p.Arg41Thr) n.568G>C | |
| 13 | g.47988551C>T | CA388150240 | SUCLA2 | c.350G>A (p.Arg117Lys) c.524G>A (p.Arg175Lys) c.*317G>A (n.*317G>A) c.90+12629G>A (n.90+12629G>A) c.314G>A (p.Arg105Lys) c.618G>A (n.618G>A) c.287G>A (p.Arg96Lys) c.122G>A (p.Arg41Lys) n.568G>A | |
| 13 | g.47988552T>A | CA388150244 | SUCLA2 | c.349A>T (p.Arg117Trp) c.523A>T (p.Arg175Trp) c.*316A>T (n.*316A>T) c.90+12628A>T (n.90+12628A>T) c.313A>T (p.Arg105Trp) c.617A>T (n.617A>T) c.286A>T (p.Arg96Trp) c.121A>T (p.Arg41Trp) n.567A>T | |
| 13 | g.47988552T>C | CA388150243 | SUCLA2 | c.349A>G (p.Arg117Gly) c.523A>G (p.Arg175Gly) c.*316A>G (n.*316A>G) c.90+12628A>G (n.90+12628A>G) c.313A>G (p.Arg105Gly) c.617A>G (n.617A>G) c.286A>G (p.Arg96Gly) c.121A>G (p.Arg41Gly) n.567A>G | |
| 13 | g.47988552T>G | CA483555502 | SUCLA2 | c.349A>C (p.Arg117=) c.523A>C (p.Arg175=) c.*316A>C (n.*316A>C) c.90+12628A>C (n.90+12628A>C) c.313A>C (p.Arg105=) c.617A>C (n.617A>C) c.286A>C (p.Arg96=) c.121A>C (p.Arg41=) n.567A>C | |
| 13 | g.47988553T>A | CA388150247 | SUCLA2 | c.348A>T (p.Glu116Asp) c.522A>T (p.Glu174Asp) c.*315A>T (n.*315A>T) c.90+12627A>T (n.90+12627A>T) c.312A>T (p.Glu104Asp) c.616A>T (n.616A>T) c.285A>T (p.Glu95Asp) c.120A>T (p.Glu40Asp) n.566A>T | |
| 13 | g.47988553T>C | CA483555503 | SUCLA2 | c.348A>G (p.Glu116=) c.522A>G (p.Glu174=) c.*315A>G (n.*315A>G) c.90+12627A>G (n.90+12627A>G) c.312A>G (p.Glu104=) c.616A>G (n.616A>G) c.285A>G (p.Glu95=) c.120A>G (p.Glu40=) n.566A>G | |
| 13 | g.47988553T>G | CA388150249 | SUCLA2 | c.348A>C (p.Glu116Asp) c.522A>C (p.Glu174Asp) c.*315A>C (n.*315A>C) c.90+12627A>C (n.90+12627A>C) c.312A>C (p.Glu104Asp) c.616A>C (n.616A>C) c.285A>C (p.Glu95Asp) c.120A>C (p.Glu40Asp) n.566A>C | |
| 13 | g.47988554T>A | CA388150252 | SUCLA2 | c.347A>T (p.Glu116Val) c.521A>T (p.Glu174Val) c.*314A>T (n.*314A>T) c.90+12626A>T (n.90+12626A>T) c.311A>T (p.Glu104Val) c.615A>T (n.615A>T) c.284A>T (p.Glu95Val) c.119A>T (p.Glu40Val) n.565A>T | |
| 13 | g.47988554T>C | CA388150254 | SUCLA2 | c.347A>G (p.Glu116Gly) c.521A>G (p.Glu174Gly) c.*314A>G (n.*314A>G) c.90+12626A>G (n.90+12626A>G) c.311A>G (p.Glu104Gly) c.615A>G (n.615A>G) c.284A>G (p.Glu95Gly) c.119A>G (p.Glu40Gly) n.565A>G | |
| 13 | g.47988554T>G | CA388150255 | SUCLA2 | c.347A>C (p.Glu116Ala) c.521A>C (p.Glu174Ala) c.*314A>C (n.*314A>C) c.90+12626A>C (n.90+12626A>C) c.311A>C (p.Glu104Ala) c.615A>C (n.615A>C) c.284A>C (p.Glu95Ala) c.119A>C (p.Glu40Ala) n.565A>C | |
| 13 | g.47988555C>A | CA388150257 | SUCLA2 | c.346G>T (p.Glu116Ter) c.520G>T (p.Glu174Ter) c.*313G>T (n.*313G>T) c.90+12625G>T (n.90+12625G>T) c.310G>T (p.Glu104Ter) c.614G>T (n.614G>T) c.283G>T (p.Glu95Ter) c.118G>T (p.Glu40Ter) n.564G>T | |
| 13 | g.47988555C= | CA2089813766 | SUCLA2 | c.346G= (p.Glu116=) c.520G= (p.Glu174=) c.*313G= (n.*313G=) c.90+12625G= (n.90+12625G=) c.310G= (p.Glu104=) c.614G= (n.614G=) c.283G= (p.Glu95=) c.118G= (p.Glu40=) n.564G= |