UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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= | |
| 13 | g.47988555C>G | CA6977994 | SUCLA2 | c.346G>C (p.Glu116Gln) c.520G>C (p.Glu174Gln) c.*313G>C (n.*313G>C) c.90+12625G>C (n.90+12625G>C) c.310G>C (p.Glu104Gln) c.614G>C (n.614G>C) c.283G>C (p.Glu95Gln) c.118G>C (p.Glu40Gln) n.564G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47988555C>T | CA388150259 | SUCLA2 | c.346G>A (p.Glu116Lys) c.520G>A (p.Glu174Lys) c.*313G>A (n.*313G>A) c.90+12625G>A (n.90+12625G>A) c.310G>A (p.Glu104Lys) c.614G>A (n.614G>A) c.283G>A (p.Glu95Lys) c.118G>A (p.Glu40Lys) n.564G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47988556C>A | CA388150260 | SUCLA2 | c.345G>T (p.Met115Ile) c.519G>T (p.Met173Ile) c.*312G>T (n.*312G>T) c.90+12624G>T (n.90+12624G>T) c.309G>T (p.Met103Ile) c.613G>T (n.613G>T) c.282G>T (p.Met94Ile) c.117G>T (p.Met39Ile) n.563G>T | |
| 13 | g.47988556C>G | CA388150263 | SUCLA2 | c.345G>C (p.Met115Ile) c.519G>C (p.Met173Ile) c.*312G>C (n.*312G>C) c.90+12624G>C (n.90+12624G>C) c.309G>C (p.Met103Ile) c.613G>C (n.613G>C) c.282G>C (p.Met94Ile) c.117G>C (p.Met39Ile) n.563G>C | |
| 13 | g.47988556C>T | CA388150264 | SUCLA2 | c.345G>A (p.Met115Ile) c.519G>A (p.Met173Ile) c.*312G>A (n.*312G>A) c.90+12624G>A (n.90+12624G>A) c.309G>A (p.Met103Ile) c.613G>A (n.613G>A) c.282G>A (p.Met94Ile) c.117G>A (p.Met39Ile) n.563G>A | |
| 13 | g.47988557A>C | CA388150267 | SUCLA2 | c.344T>G (p.Met115Arg) c.518T>G (p.Met173Arg) c.*311T>G (n.*311T>G) c.90+12623T>G (n.90+12623T>G) c.308T>G (p.Met103Arg) c.612T>G (n.612T>G) c.281T>G (p.Met94Arg) c.116T>G (p.Met39Arg) n.562T>G | |
| 13 | g.47988557A>G | CA388150268 | SUCLA2 | c.344T>C (p.Met115Thr) c.518T>C (p.Met173Thr) c.*311T>C (n.*311T>C) c.90+12623T>C (n.90+12623T>C) c.308T>C (p.Met103Thr) c.612T>C (n.612T>C) c.281T>C (p.Met94Thr) c.116T>C (p.Met39Thr) n.562T>C | |
| 13 | g.47988557A>T | CA388150269 | SUCLA2 | c.344T>A (p.Met115Lys) c.518T>A (p.Met173Lys) c.*311T>A (n.*311T>A) c.90+12623T>A (n.90+12623T>A) c.308T>A (p.Met103Lys) c.612T>A (n.612T>A) c.281T>A (p.Met94Lys) c.116T>A (p.Met39Lys) n.562T>A | |
| 13 | g.47988558T>A | CA388150273 | SUCLA2 | c.343A>T (p.Met115Leu) c.517A>T (p.Met173Leu) c.*310A>T (n.*310A>T) c.90+12622A>T (n.90+12622A>T) c.307A>T (p.Met103Leu) c.611A>T (n.611A>T) c.280A>T (p.Met94Leu) c.115A>T (p.Met39Leu) n.561A>T | |
| 13 | g.47988558T>C | CA10643550 | SUCLA2 | c.343A>G (p.Met115Val) c.517A>G (p.Met173Val) c.*310A>G (n.*310A>G) c.90+12622A>G (n.90+12622A>G) c.307A>G (p.Met103Val) c.611A>G (n.611A>G) c.280A>G (p.Met94Val) c.115A>G (p.Met39Val) n.561A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47988558T>G | CA388150271 | SUCLA2 | c.343A>C (p.Met115Leu) c.517A>C (p.Met173Leu) c.*310A>C (n.*310A>C) c.90+12622A>C (n.90+12622A>C) c.307A>C (p.Met103Leu) c.611A>C (n.611A>C) c.280A>C (p.Met94Leu) c.115A>C (p.Met39Leu) n.561A>C | |
| 13 | g.47988558T= | CA2089813767 | SUCLA2 | c.343A= (p.Met115=) c.517A= (p.Met173=) c.*310A= (n.*310A=) c.90+12622A= (n.90+12622A=) c.307A= (p.Met103=) c.611A= (n.611A=) c.280A= (p.Met94=) c.115A= (p.Met39=) n.561A= | |
| 13 | g.47988559T>A | CA483555504 | SUCLA2 | c.342A>T (p.Thr114=) c.516A>T (p.Thr172=) c.*309A>T (n.*309A>T) c.90+12621A>T (n.90+12621A>T) c.306A>T (p.Thr102=) c.610A>T (n.610A>T) c.279A>T (p.Thr93=) c.114A>T (p.Thr38=) n.560A>T | |
| 13 | g.47988559T>C | CA483555505 | SUCLA2 | c.342A>G (p.Thr114=) c.516A>G (p.Thr172=) c.*309A>G (n.*309A>G) c.90+12621A>G (n.90+12621A>G) c.306A>G (p.Thr102=) c.610A>G (n.610A>G) c.279A>G (p.Thr93=) c.114A>G (p.Thr38=) n.560A>G | |
| 13 | g.47988559T>G | CA483555506 | SUCLA2 | c.342A>C (p.Thr114=) c.516A>C (p.Thr172=) c.*309A>C (n.*309A>C) c.90+12621A>C (n.90+12621A>C) c.306A>C (p.Thr102=) c.610A>C (n.610A>C) c.279A>C (p.Thr93=) c.114A>C (p.Thr38=) n.560A>C | |
| 13 | g.47988560G>A | CA388150276 | SUCLA2 | c.341C>T (p.Thr114Ile) c.515C>T (p.Thr172Ile) c.*308C>T (n.*308C>T) c.90+12620C>T (n.90+12620C>T) c.305C>T (p.Thr102Ile) c.609C>T (n.609C>T) c.278C>T (p.Thr93Ile) c.113C>T (p.Thr38Ile) n.559C>T | |
| 13 | g.47988560G>C | CA388150278 | SUCLA2 | c.341C>G (p.Thr114Arg) c.515C>G (p.Thr172Arg) c.*308C>G (n.*308C>G) c.90+12620C>G (n.90+12620C>G) c.305C>G (p.Thr102Arg) c.609C>G (n.609C>G) c.278C>G (p.Thr93Arg) c.113C>G (p.Thr38Arg) n.559C>G | |
| 13 | g.47988560G>T | CA388150281 | SUCLA2 | c.341C>A (p.Thr114Lys) c.515C>A (p.Thr172Lys) c.*308C>A (n.*308C>A) c.90+12620C>A (n.90+12620C>A) c.305C>A (p.Thr102Lys) c.609C>A (n.609C>A) c.278C>A (p.Thr93Lys) c.113C>A (p.Thr38Lys) n.559C>A | |
| 13 | g.47988561T>A | CA388150283 | SUCLA2 | c.340A>T (p.Thr114Ser) c.514A>T (p.Thr172Ser) c.*307A>T (n.*307A>T) c.90+12619A>T (n.90+12619A>T) c.304A>T (p.Thr102Ser) c.608A>T (n.608A>T) c.277A>T (p.Thr93Ser) c.112A>T (p.Thr38Ser) n.558A>T | |
| 13 | g.47988561T>C | CA388150285 | SUCLA2 | c.340A>G (p.Thr114Ala) c.514A>G (p.Thr172Ala) c.*307A>G (n.*307A>G) c.90+12619A>G (n.90+12619A>G) c.304A>G (p.Thr102Ala) c.608A>G (n.608A>G) c.277A>G (p.Thr93Ala) c.112A>G (p.Thr38Ala) n.558A>G | |
| 13 | g.47988561T>G | CA388150288 | SUCLA2 | c.340A>C (p.Thr114Pro) c.514A>C (p.Thr172Pro) c.*307A>C (n.*307A>C) c.90+12619A>C (n.90+12619A>C) c.304A>C (p.Thr102Pro) c.608A>C (n.608A>C) c.277A>C (p.Thr93Pro) c.112A>C (p.Thr38Pro) n.558A>C | |
| 13 | g.47988562T>A | CA483555507 | SUCLA2 | c.339A>T (p.Ile113=) c.513A>T (p.Ile171=) c.*306A>T (n.*306A>T) c.90+12618A>T (n.90+12618A>T) c.303A>T (p.Ile101=) c.607A>T (n.607A>T) c.276A>T (p.Ile92=) c.111A>T (p.Ile37=) n.557A>T | |
| 13 | g.47988562T>C | CA388150290 | SUCLA2 | c.339A>G (p.Ile113Met) c.513A>G (p.Ile171Met) c.*306A>G (n.*306A>G) c.90+12618A>G (n.90+12618A>G) c.303A>G (p.Ile101Met) c.607A>G (n.607A>G) c.276A>G (p.Ile92Met) c.111A>G (p.Ile37Met) n.557A>G | gnomAD v4 |
| 13 | g.47988562T>G | CA483555508 | SUCLA2 | c.339A>C (p.Ile113=) c.513A>C (p.Ile171=) c.*306A>C (n.*306A>C) c.90+12618A>C (n.90+12618A>C) c.303A>C (p.Ile101=) c.607A>C (n.607A>C) c.276A>C (p.Ile92=) c.111A>C (p.Ile37=) n.557A>C | |
| 13 | g.47988563A>C | CA388150292 | SUCLA2 | c.338T>G (p.Ile113Arg) c.512T>G (p.Ile171Arg) c.*305T>G (n.*305T>G) c.90+12617T>G (n.90+12617T>G) c.302T>G (p.Ile101Arg) c.606T>G (n.606T>G) c.275T>G (p.Ile92Arg) c.110T>G (p.Ile37Arg) n.556T>G | |
| 13 | g.47988563A>G | CA388150294 | SUCLA2 | c.338T>C (p.Ile113Thr) c.512T>C (p.Ile171Thr) c.*305T>C (n.*305T>C) c.90+12617T>C (n.90+12617T>C) c.302T>C (p.Ile101Thr) c.606T>C (n.606T>C) c.275T>C (p.Ile92Thr) c.110T>C (p.Ile37Thr) n.556T>C | |
| 13 | g.47988563A>T | CA388150296 | SUCLA2 | c.338T>A (p.Ile113Lys) c.512T>A (p.Ile171Lys) c.*305T>A (n.*305T>A) c.90+12617T>A (n.90+12617T>A) c.302T>A (p.Ile101Lys) c.606T>A (n.606T>A) c.275T>A (p.Ile92Lys) c.110T>A (p.Ile37Lys) n.556T>A | |
| 13 | g.47988564T>A | CA388150298 | SUCLA2 | c.337A>T (p.Ile113Leu) c.511A>T (p.Ile171Leu) c.*304A>T (n.*304A>T) c.90+12616A>T (n.90+12616A>T) c.301A>T (p.Ile101Leu) c.605A>T (n.605A>T) c.274A>T (p.Ile92Leu) c.109A>T (p.Ile37Leu) n.555A>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47988564T>C | CA388150300 | SUCLA2 | c.337A>G (p.Ile113Val) c.511A>G (p.Ile171Val) c.*304A>G (n.*304A>G) c.90+12616A>G (n.90+12616A>G) c.301A>G (p.Ile101Val) c.605A>G (n.605A>G) c.274A>G (p.Ile92Val) c.109A>G (p.Ile37Val) n.555A>G | |
| 13 | g.47988564T>G | CA388150301 | SUCLA2 | c.337A>C (p.Ile113Leu) c.511A>C (p.Ile171Leu) c.*304A>C (n.*304A>C) c.90+12616A>C (n.90+12616A>C) c.301A>C (p.Ile101Leu) c.605A>C (n.605A>C) c.274A>C (p.Ile92Leu) c.109A>C (p.Ile37Leu) n.555A>C | |
| 13 | g.47988564T= | CA2089813768 | SUCLA2 | c.337A= (p.Ile113=) c.511A= (p.Ile171=) c.*304A= (n.*304A=) c.90+12616A= (n.90+12616A=) c.301A= (p.Ile101=) c.605A= (n.605A=) c.274A= (p.Ile92=) c.109A= (p.Ile37=) n.555A= | |
| 13 | g.47988565T>A | CA483555509 | SUCLA2 | c.336A>T (p.Ala112=) c.510A>T (p.Ala170=) c.*303A>T (n.*303A>T) c.90+12615A>T (n.90+12615A>T) c.300A>T (p.Ala100=) c.604A>T (n.604A>T) c.273A>T (p.Ala91=) c.108A>T (p.Ala36=) n.554A>T | |
| 13 | g.47988565T>C | CA293801 | SUCLA2 | c.336A>G (p.Ala112=) c.510A>G (p.Ala170=) c.*303A>G (n.*303A>G) c.90+12615A>G (n.90+12615A>G) c.300A>G (p.Ala100=) c.604A>G (n.604A>G) c.273A>G (p.Ala91=) c.108A>G (p.Ala36=) n.554A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47988565T>G | CA483555510 | SUCLA2 | c.336A>C (p.Ala112=) c.510A>C (p.Ala170=) c.*303A>C (n.*303A>C) c.90+12615A>C (n.90+12615A>C) c.300A>C (p.Ala100=) c.604A>C (n.604A>C) c.273A>C (p.Ala91=) c.108A>C (p.Ala36=) n.554A>C | |
| 13 | g.47988565T= | CA2089813769 | SUCLA2 | c.336A= (p.Ala112=) c.510A= (p.Ala170=) c.*303A= (n.*303A=) c.90+12615A= (n.90+12615A=) c.300A= (p.Ala100=) c.604A= (n.604A=) c.273A= (p.Ala91=) c.108A= (p.Ala36=) n.554A= | |
| 13 | g.47988566G>A | CA249276914 | SUCLA2 | c.335C>T (p.Ala112Val) c.509C>T (p.Ala170Val) c.*302C>T (n.*302C>T) c.90+12614C>T (n.90+12614C>T) c.299C>T (p.Ala100Val) c.603C>T (n.603C>T) c.272C>T (p.Ala91Val) c.107C>T (p.Ala36Val) n.553C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47988566G>C | CA388150304 | SUCLA2 | c.335C>G (p.Ala112Gly) c.509C>G (p.Ala170Gly) c.*302C>G (n.*302C>G) c.90+12614C>G (n.90+12614C>G) c.299C>G (p.Ala100Gly) c.603C>G (n.603C>G) c.272C>G (p.Ala91Gly) c.107C>G (p.Ala36Gly) n.553C>G | |
| 13 | g.47988566G= | CA2089813770 | SUCLA2 | c.335C= (p.Ala112=) c.509C= (p.Ala170=) c.*302C= (n.*302C=) c.90+12614C= (n.90+12614C=) c.299C= (p.Ala100=) c.603C= (n.603C=) c.272C= (p.Ala91=) c.107C= (p.Ala36=) n.553C= | |
| 13 | g.47988566G>T | CA388150310 | SUCLA2 | c.335C>A (p.Ala112Glu) c.509C>A (p.Ala170Glu) c.*302C>A (n.*302C>A) c.90+12614C>A (n.90+12614C>A) c.299C>A (p.Ala100Glu) c.603C>A (n.603C>A) c.272C>A (p.Ala91Glu) c.107C>A (p.Ala36Glu) n.553C>A | |
| 13 | g.47988567C>A | CA388150315 | SUCLA2 | c.334G>T (p.Ala112Ser) c.508G>T (p.Ala170Ser) c.*301G>T (n.*301G>T) c.90+12613G>T (n.90+12613G>T) c.298G>T (p.Ala100Ser) c.602G>T (n.602G>T) c.271G>T (p.Ala91Ser) c.106G>T (p.Ala36Ser) n.552G>T | |
| 13 | g.47988567C>G | CA388150317 | SUCLA2 | c.334G>C (p.Ala112Pro) c.508G>C (p.Ala170Pro) c.*301G>C (n.*301G>C) c.90+12613G>C (n.90+12613G>C) c.298G>C (p.Ala100Pro) c.602G>C (n.602G>C) c.271G>C (p.Ala91Pro) c.106G>C (p.Ala36Pro) n.552G>C | |
| 13 | g.47988567C>T | CA388150318 | SUCLA2 | c.334G>A (p.Ala112Thr) c.508G>A (p.Ala170Thr) c.*301G>A (n.*301G>A) c.90+12613G>A (n.90+12613G>A) c.298G>A (p.Ala100Thr) c.602G>A (n.602G>A) c.271G>A (p.Ala91Thr) c.106G>A (p.Ala36Thr) n.552G>A | |
| 13 | g.47988568A>C | CA388150320 | SUCLA2 | c.333T>G (p.Phe111Leu) c.507T>G (p.Phe169Leu) c.*300T>G (n.*300T>G) c.90+12612T>G (n.90+12612T>G) c.297T>G (p.Phe99Leu) c.601T>G (n.601T>G) c.270T>G (p.Phe90Leu) c.105T>G (p.Phe35Leu) n.551T>G | |
| 13 | g.47988568A>G | CA483555511 | SUCLA2 | c.333T>C (p.Phe111=) c.507T>C (p.Phe169=) c.*300T>C (n.*300T>C) c.90+12612T>C (n.90+12612T>C) c.297T>C (p.Phe99=) c.601T>C (n.601T>C) c.270T>C (p.Phe90=) c.105T>C (p.Phe35=) n.551T>C | |
| 13 | g.47988568A>T | CA388150322 | SUCLA2 | c.333T>A (p.Phe111Leu) c.507T>A (p.Phe169Leu) c.*300T>A (n.*300T>A) c.90+12612T>A (n.90+12612T>A) c.297T>A (p.Phe99Leu) c.601T>A (n.601T>A) c.270T>A (p.Phe90Leu) c.105T>A (p.Phe35Leu) n.551T>A | |
| 13 | g.47988569A>C | CA388150324 | SUCLA2 | c.332T>G (p.Phe111Cys) c.506T>G (p.Phe169Cys) c.*299T>G (n.*299T>G) c.90+12611T>G (n.90+12611T>G) c.296T>G (p.Phe99Cys) c.600T>G (n.600T>G) c.269T>G (p.Phe90Cys) c.104T>G (p.Phe35Cys) n.550T>G | |
| 13 | g.47988569A>G | CA388150326 | SUCLA2 | c.332T>C (p.Phe111Ser) c.506T>C (p.Phe169Ser) c.*299T>C (n.*299T>C) c.90+12611T>C (n.90+12611T>C) c.296T>C (p.Phe99Ser) c.600T>C (n.600T>C) c.269T>C (p.Phe90Ser) c.104T>C (p.Phe35Ser) n.550T>C | |
| 13 | g.47988569A>T | CA388150328 | SUCLA2 | c.332T>A (p.Phe111Tyr) c.506T>A (p.Phe169Tyr) c.*299T>A (n.*299T>A) c.90+12611T>A (n.90+12611T>A) c.296T>A (p.Phe99Tyr) c.600T>A (n.600T>A) c.269T>A (p.Phe90Tyr) c.104T>A (p.Phe35Tyr) n.550T>A | |
| 13 | g.47988570A>C | CA388150330 | SUCLA2 | c.331T>G (p.Phe111Val) c.505T>G (p.Phe169Val) c.*298T>G (n.*298T>G) c.90+12610T>G (n.90+12610T>G) c.295T>G (p.Phe99Val) c.599T>G (n.599T>G) c.268T>G (p.Phe90Val) c.103T>G (p.Phe35Val) n.549T>G | |
| 13 | g.47988570A>G | CA388150331 | SUCLA2 | c.331T>C (p.Phe111Leu) c.505T>C (p.Phe169Leu) c.*298T>C (n.*298T>C) c.90+12610T>C (n.90+12610T>C) c.295T>C (p.Phe99Leu) c.599T>C (n.599T>C) c.268T>C (p.Phe90Leu) c.103T>C (p.Phe35Leu) n.549T>C | |
| 13 | g.47988570A>T | CA388150333 | SUCLA2 | c.331T>A (p.Phe111Ile) c.505T>A (p.Phe169Ile) c.*298T>A (n.*298T>A) c.90+12610T>A (n.90+12610T>A) c.295T>A (p.Phe99Ile) c.599T>A (n.599T>A) c.268T>A (p.Phe90Ile) c.103T>A (p.Phe35Ile) n.549T>A | gnomAD v4 |
| 13 | g.47988571G>A | CA483555512 | SUCLA2 | c.330C>T (p.Tyr110=) c.504C>T (p.Tyr168=) c.*297C>T (n.*297C>T) c.90+12609C>T (n.90+12609C>T) c.294C>T (p.Tyr98=) c.598C>T (n.598C>T) c.267C>T (p.Tyr89=) c.102C>T (p.Tyr34=) n.548C>T | |
| 13 | g.47988571G>C | CA388150337 | SUCLA2 | c.330C>G (p.Tyr110Ter) c.504C>G (p.Tyr168Ter) c.*297C>G (n.*297C>G) c.90+12609C>G (n.90+12609C>G) c.294C>G (p.Tyr98Ter) c.598C>G (n.598C>G) c.267C>G (p.Tyr89Ter) c.102C>G (p.Tyr34Ter) n.548C>G | |
| 13 | g.47988571G>T | CA388150335 | SUCLA2 | c.330C>A (p.Tyr110Ter) c.504C>A (p.Tyr168Ter) c.*297C>A (n.*297C>A) c.90+12609C>A (n.90+12609C>A) c.294C>A (p.Tyr98Ter) c.598C>A (n.598C>A) c.267C>A (p.Tyr89Ter) c.102C>A (p.Tyr34Ter) n.548C>A | |
| 13 | g.47988572T>A | CA388150339 | SUCLA2 | c.329A>T (p.Tyr110Phe) c.503A>T (p.Tyr168Phe) c.*296A>T (n.*296A>T) c.90+12608A>T (n.90+12608A>T) c.293A>T (p.Tyr98Phe) c.597A>T (n.597A>T) c.266A>T (p.Tyr89Phe) c.101A>T (p.Tyr34Phe) n.547A>T | |
| 13 | g.47988572T>C | CA388150341 | SUCLA2 | c.329A>G (p.Tyr110Cys) c.503A>G (p.Tyr168Cys) c.*296A>G (n.*296A>G) c.90+12608A>G (n.90+12608A>G) c.293A>G (p.Tyr98Cys) c.597A>G (n.597A>G) c.266A>G (p.Tyr89Cys) c.101A>G (p.Tyr34Cys) n.547A>G | |
| 13 | g.47988572T>G | CA388150343 | SUCLA2 | c.329A>C (p.Tyr110Ser) c.503A>C (p.Tyr168Ser) c.*296A>C (n.*296A>C) c.90+12608A>C (n.90+12608A>C) c.293A>C (p.Tyr98Ser) c.597A>C (n.597A>C) c.266A>C (p.Tyr89Ser) c.101A>C (p.Tyr34Ser) n.547A>C | |
| 13 | g.47988573A>C | CA388150345 | SUCLA2 | c.328T>G (p.Tyr110Asp) c.502T>G (p.Tyr168Asp) c.*295T>G (n.*295T>G) c.90+12607T>G (n.90+12607T>G) c.292T>G (p.Tyr98Asp) c.596T>G (n.596T>G) c.265T>G (p.Tyr89Asp) c.100T>G (p.Tyr34Asp) n.546T>G | |
| 13 | g.47988573A>G | CA388150347 | SUCLA2 | c.328T>C (p.Tyr110His) c.502T>C (p.Tyr168His) c.*295T>C (n.*295T>C) c.90+12607T>C (n.90+12607T>C) c.292T>C (p.Tyr98His) c.596T>C (n.596T>C) c.265T>C (p.Tyr89His) c.100T>C (p.Tyr34His) n.546T>C | |
| 13 | g.47988573A>T | CA388150348 | SUCLA2 | c.328T>A (p.Tyr110Asn) c.502T>A (p.Tyr168Asn) c.*295T>A (n.*295T>A) c.90+12607T>A (n.90+12607T>A) c.292T>A (p.Tyr98Asn) c.596T>A (n.596T>A) c.265T>A (p.Tyr89Asn) c.100T>A (p.Tyr34Asn) n.546T>A | |
| 13 | g.47988574G>A | CA483555513 | SUCLA2 | c.327C>T (p.Tyr109=) c.501C>T (p.Tyr167=) c.*294C>T (n.*294C>T) c.90+12606C>T (n.90+12606C>T) c.291C>T (p.Tyr97=) c.595C>T (n.595C>T) c.264C>T (p.Tyr88=) c.99C>T (p.Tyr33=) n.545C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.47988574G>C | CA388150350 | SUCLA2 | c.327C>G (p.Tyr109Ter) c.501C>G (p.Tyr167Ter) c.*294C>G (n.*294C>G) c.90+12606C>G (n.90+12606C>G) c.291C>G (p.Tyr97Ter) c.595C>G (n.595C>G) c.264C>G (p.Tyr88Ter) c.99C>G (p.Tyr33Ter) n.545C>G | |
| 13 | g.47988574G= | CA2089813771 | SUCLA2 | c.327C= (p.Tyr109=) c.501C= (p.Tyr167=) c.*294C= (n.*294C=) c.90+12606C= (n.90+12606C=) c.291C= (p.Tyr97=) c.595C= (n.595C=) c.264C= (p.Tyr88=) c.99C= (p.Tyr33=) n.545C= | |
| 13 | g.47988574G>T | CA388150352 | SUCLA2 | c.327C>A (p.Tyr109Ter) c.501C>A (p.Tyr167Ter) c.*294C>A (n.*294C>A) c.90+12606C>A (n.90+12606C>A) c.291C>A (p.Tyr97Ter) c.595C>A (n.595C>A) c.264C>A (p.Tyr88Ter) c.99C>A (p.Tyr33Ter) n.545C>A | |
| 13 | g.47988575T>A | CA388150355 | SUCLA2 | c.326A>T (p.Tyr109Phe) c.500A>T (p.Tyr167Phe) c.*293A>T (n.*293A>T) c.90+12605A>T (n.90+12605A>T) c.290A>T (p.Tyr97Phe) c.594A>T (n.594A>T) c.263A>T (p.Tyr88Phe) c.98A>T (p.Tyr33Phe) n.544A>T | |
| 13 | g.47988575T>C | CA388150357 | SUCLA2 | c.326A>G (p.Tyr109Cys) c.500A>G (p.Tyr167Cys) c.*293A>G (n.*293A>G) c.90+12605A>G (n.90+12605A>G) c.290A>G (p.Tyr97Cys) c.594A>G (n.594A>G) c.263A>G (p.Tyr88Cys) c.98A>G (p.Tyr33Cys) n.544A>G | |
| 13 | g.47988575T>G | CA388150359 | SUCLA2 | c.326A>C (p.Tyr109Ser) c.500A>C (p.Tyr167Ser) c.*293A>C (n.*293A>C) c.90+12605A>C (n.90+12605A>C) c.290A>C (p.Tyr97Ser) c.594A>C (n.594A>C) c.263A>C (p.Tyr88Ser) c.98A>C (p.Tyr33Ser) n.544A>C | |
| 13 | g.47988576A>C | CA388150362 | SUCLA2 | c.325T>G (p.Tyr109Asp) c.499T>G (p.Tyr167Asp) c.*292T>G (n.*292T>G) c.90+12604T>G (n.90+12604T>G) c.289T>G (p.Tyr97Asp) c.593T>G (n.593T>G) c.262T>G (p.Tyr88Asp) c.97T>G (p.Tyr33Asp) n.543T>G | |
| 13 | g.47988576A>G | CA388150364 | SUCLA2 | c.325T>C (p.Tyr109His) c.499T>C (p.Tyr167His) c.*292T>C (n.*292T>C) c.90+12604T>C (n.90+12604T>C) c.289T>C (p.Tyr97His) c.593T>C (n.593T>C) c.262T>C (p.Tyr88His) c.97T>C (p.Tyr33His) n.543T>C | gnomAD v4 |
| 13 | g.47988576A>T | CA388150366 | SUCLA2 | c.325T>A (p.Tyr109Asn) c.499T>A (p.Tyr167Asn) c.*292T>A (n.*292T>A) c.90+12604T>A (n.90+12604T>A) c.289T>A (p.Tyr97Asn) c.593T>A (n.593T>A) c.262T>A (p.Tyr88Asn) c.97T>A (p.Tyr33Asn) n.543T>A | |
| 13 | g.47988577T>A | CA388150370 | SUCLA2 | c.324A>T (p.Glu108Asp) c.498A>T (p.Glu166Asp) c.*291A>T (n.*291A>T) c.90+12603A>T (n.90+12603A>T) c.288A>T (p.Glu96Asp) c.592A>T (n.592A>T) c.261A>T (p.Glu87Asp) c.96A>T (p.Glu32Asp) n.542A>T | |
| 13 | g.47988577T>C | CA483555514 | SUCLA2 | c.324A>G (p.Glu108=) c.498A>G (p.Glu166=) c.*291A>G (n.*291A>G) c.90+12603A>G (n.90+12603A>G) c.288A>G (p.Glu96=) c.592A>G (n.592A>G) c.261A>G (p.Glu87=) c.96A>G (p.Glu32=) n.542A>G | gnomAD v4 |
| 13 | g.47988577T>G | CA388150368 | SUCLA2 | c.324A>C (p.Glu108Asp) c.498A>C (p.Glu166Asp) c.*291A>C (n.*291A>C) c.90+12603A>C (n.90+12603A>C) c.288A>C (p.Glu96Asp) c.592A>C (n.592A>C) c.261A>C (p.Glu87Asp) c.96A>C (p.Glu32Asp) n.542A>C | |
| 13 | g.47988578T>A | CA388150372 | SUCLA2 | c.323A>T (p.Glu108Val) c.497A>T (p.Glu166Val) c.*290A>T (n.*290A>T) c.90+12602A>T (n.90+12602A>T) c.287A>T (p.Glu96Val) c.591A>T (n.591A>T) c.260A>T (p.Glu87Val) c.95A>T (p.Glu32Val) n.541A>T | |
| 13 | g.47988578T>C | CA388150374 | SUCLA2 | c.323A>G (p.Glu108Gly) c.497A>G (p.Glu166Gly) c.*290A>G (n.*290A>G) c.90+12602A>G (n.90+12602A>G) c.287A>G (p.Glu96Gly) c.591A>G (n.591A>G) c.260A>G (p.Glu87Gly) c.95A>G (p.Glu32Gly) n.541A>G | |
| 13 | g.47988578T>G | CA388150376 | SUCLA2 | c.323A>C (p.Glu108Ala) c.497A>C (p.Glu166Ala) c.*290A>C (n.*290A>C) c.90+12602A>C (n.90+12602A>C) c.287A>C (p.Glu96Ala) c.591A>C (n.591A>C) c.260A>C (p.Glu87Ala) c.95A>C (p.Glu32Ala) n.541A>C | |
| 13 | g.47988579C>A | CA388150377 | SUCLA2 | c.322G>T (p.Glu108Ter) c.496G>T (p.Glu166Ter) c.*289G>T (n.*289G>T) c.90+12601G>T (n.90+12601G>T) c.286G>T (p.Glu96Ter) c.590G>T (n.590G>T) c.259G>T (p.Glu87Ter) c.94G>T (p.Glu32Ter) n.540G>T | COSMIC |
| 13 | g.47988579C>G | CA388150379 | SUCLA2 | c.322G>C (p.Glu108Gln) c.496G>C (p.Glu166Gln) c.*289G>C (n.*289G>C) c.90+12601G>C (n.90+12601G>C) c.286G>C (p.Glu96Gln) c.590G>C (n.590G>C) c.259G>C (p.Glu87Gln) c.94G>C (p.Glu32Gln) n.540G>C | |
| 13 | g.47988579C>T | CA388150381 | SUCLA2 | c.322G>A (p.Glu108Lys) c.496G>A (p.Glu166Lys) c.*289G>A (n.*289G>A) c.90+12601G>A (n.90+12601G>A) c.286G>A (p.Glu96Lys) c.590G>A (n.590G>A) c.259G>A (p.Glu87Lys) c.94G>A (p.Glu32Lys) n.540G>A | |
| 13 | g.47988580T>A | CA388150384 | SUCLA2 | c.321A>T (p.Arg107Ser) c.495A>T (p.Arg165Ser) c.*288A>T (n.*288A>T) c.90+12600A>T (n.90+12600A>T) c.285A>T (p.Arg95Ser) c.589A>T (n.589A>T) c.258A>T (p.Arg86Ser) c.93A>T (p.Arg31Ser) n.539A>T | |
| 13 | g.47988580T>C | CA483555515 | SUCLA2 | c.321A>G (p.Arg107=) c.495A>G (p.Arg165=) c.*288A>G (n.*288A>G) c.90+12600A>G (n.90+12600A>G) c.285A>G (p.Arg95=) c.589A>G (n.589A>G) c.258A>G (p.Arg86=) c.93A>G (p.Arg31=) n.539A>G | |
| 13 | g.47988580T>G | CA388150385 | SUCLA2 | c.321A>C (p.Arg107Ser) c.495A>C (p.Arg165Ser) c.*288A>C (n.*288A>C) c.90+12600A>C (n.90+12600A>C) c.285A>C (p.Arg95Ser) c.589A>C (n.589A>C) c.258A>C (p.Arg86Ser) c.93A>C (p.Arg31Ser) n.539A>C | |
| 13 | g.47988581C>A | CA388150387 | SUCLA2 | c.320G>T (p.Arg107Ile) c.494G>T (p.Arg165Ile) c.*287G>T (n.*287G>T) c.90+12599G>T (n.90+12599G>T) c.284G>T (p.Arg95Ile) c.588G>T (n.588G>T) c.257G>T (p.Arg86Ile) c.92G>T (p.Arg31Ile) n.538G>T | |
| 13 | g.47988581C>G | CA388150391 | SUCLA2 | c.320G>C (p.Arg107Thr) c.494G>C (p.Arg165Thr) c.*287G>C (n.*287G>C) c.90+12599G>C (n.90+12599G>C) c.284G>C (p.Arg95Thr) c.588G>C (n.588G>C) c.257G>C (p.Arg86Thr) c.92G>C (p.Arg31Thr) n.538G>C | |
| 13 | g.47988581C>T | CA388150389 | SUCLA2 | c.320G>A (p.Arg107Lys) c.494G>A (p.Arg165Lys) c.*287G>A (n.*287G>A) c.90+12599G>A (n.90+12599G>A) c.284G>A (p.Arg95Lys) c.588G>A (n.588G>A) c.257G>A (p.Arg86Lys) c.92G>A (p.Arg31Lys) n.538G>A | ClinVar |
| 13 | g.47988582T>A | CA388150393 | SUCLA2 | c.319A>T (p.Arg107Ter) c.493A>T (p.Arg165Ter) c.*286A>T (n.*286A>T) c.90+12598A>T (n.90+12598A>T) c.283A>T (p.Arg95Ter) c.587A>T (n.587A>T) c.256A>T (p.Arg86Ter) c.91A>T (p.Arg31Ter) n.537A>T | |
| 13 | g.47988582T>C | CA388150395 | SUCLA2 | c.319A>G (p.Arg107Gly) c.493A>G (p.Arg165Gly) c.*286A>G (n.*286A>G) c.90+12598A>G (n.90+12598A>G) c.283A>G (p.Arg95Gly) c.587A>G (n.587A>G) c.256A>G (p.Arg86Gly) c.91A>G (p.Arg31Gly) n.537A>G | |
| 13 | g.47988582T>G | CA483555516 | SUCLA2 | c.319A>C (p.Arg107=) c.493A>C (p.Arg165=) c.*286A>C (n.*286A>C) c.90+12598A>C (n.90+12598A>C) c.283A>C (p.Arg95=) c.587A>C (n.587A>C) c.256A>C (p.Arg86=) c.91A>C (p.Arg31=) n.537A>C | |
| 13 | g.47988583C>A | CA388150397 | SUCLA2 | c.318G>T (p.Arg106Ser) c.492G>T (p.Arg164Ser) c.*285G>T (n.*285G>T) c.90+12597G>T (n.90+12597G>T) c.282G>T (p.Arg94Ser) c.586G>T (n.586G>T) c.255G>T (p.Arg85Ser) c.90G>T (p.Arg30Ser) n.536G>T | gnomAD v4 |
| 13 | g.47988583C>G | CA388150398 | SUCLA2 | c.318G>C (p.Arg106Ser) c.492G>C (p.Arg164Ser) c.*285G>C (n.*285G>C) c.90+12597G>C (n.90+12597G>C) c.282G>C (p.Arg94Ser) c.586G>C (n.586G>C) c.255G>C (p.Arg85Ser) c.90G>C (p.Arg30Ser) n.536G>C | |
| 13 | g.47988583C>T | CA483555517 | SUCLA2 | c.318G>A (p.Arg106=) c.492G>A (p.Arg164=) c.*285G>A (n.*285G>A) c.90+12597G>A (n.90+12597G>A) c.282G>A (p.Arg94=) c.586G>A (n.586G>A) c.255G>A (p.Arg85=) c.90G>A (p.Arg30=) n.536G>A | gnomAD v4 |
| 13 | g.47988584C>A | CA388150402 | SUCLA2 | c.317G>T (p.Arg106Met) c.491G>T (p.Arg164Met) c.*284G>T (n.*284G>T) c.90+12596G>T (n.90+12596G>T) c.281G>T (p.Arg94Met) c.585G>T (n.585G>T) c.254G>T (p.Arg85Met) c.89G>T (p.Arg30Met) n.535G>T | |
| 13 | g.47988584C>G | CA388150400 | SUCLA2 | c.317G>C (p.Arg106Thr) c.491G>C (p.Arg164Thr) c.*284G>C (n.*284G>C) c.90+12596G>C (n.90+12596G>C) c.281G>C (p.Arg94Thr) c.585G>C (n.585G>C) c.254G>C (p.Arg85Thr) c.89G>C (p.Arg30Thr) n.535G>C | |
| 13 | g.47988584C>T | CA388150401 | SUCLA2 | c.317G>A (p.Arg106Lys) c.491G>A (p.Arg164Lys) c.*284G>A (n.*284G>A) c.90+12596G>A (n.90+12596G>A) c.281G>A (p.Arg94Lys) c.585G>A (n.585G>A) c.254G>A (p.Arg85Lys) c.89G>A (p.Arg30Lys) n.535G>A | |
| 13 | g.47988585T>A | CA388150403 | SUCLA2 | c.316A>T (p.Arg106Trp) c.490A>T (p.Arg164Trp) c.*283A>T (n.*283A>T) c.90+12595A>T (n.90+12595A>T) c.280A>T (p.Arg94Trp) c.584A>T (n.584A>T) c.253A>T (p.Arg85Trp) c.88A>T (p.Arg30Trp) n.534A>T | |
| 13 | g.47988585T>C | CA249276917 | SUCLA2 | c.316A>G (p.Arg106Gly) c.490A>G (p.Arg164Gly) c.*283A>G (n.*283A>G) c.90+12595A>G (n.90+12595A>G) c.280A>G (p.Arg94Gly) c.584A>G (n.584A>G) c.253A>G (p.Arg85Gly) c.88A>G (p.Arg30Gly) n.534A>G | ClinVar dbSNP |
| 13 | g.47988585T>G | CA16606464 | SUCLA2 | c.316A>C (p.Arg106=) c.490A>C (p.Arg164=) c.*283A>C (n.*283A>C) c.90+12595A>C (n.90+12595A>C) c.280A>C (p.Arg94=) c.584A>C (n.584A>C) c.253A>C (p.Arg85=) c.88A>C (p.Arg30=) n.534A>C | ClinVar dbSNP |
| 13 | g.47988585T= | CA2089813772 | SUCLA2 | c.316A= (p.Arg106=) c.490A= (p.Arg164=) c.*283A= (n.*283A=) c.90+12595A= (n.90+12595A=) c.280A= (p.Arg94=) c.584A= (n.584A=) c.253A= (p.Arg85=) c.88A= (p.Arg30=) n.534A= | |
| 13 | g.47988586G>A | CA483555518 | SUCLA2 | c.315C>T (p.Pro105=) c.489C>T (p.Pro163=) c.*282C>T (n.*282C>T) c.90+12594C>T (n.90+12594C>T) c.279C>T (p.Pro93=) c.583C>T (n.583C>T) c.252C>T (p.Pro84=) c.87C>T (p.Pro29=) n.533C>T | COSMIC |
| 13 | g.47988586G>C | CA483555519 | SUCLA2 | c.315C>G (p.Pro105=) c.489C>G (p.Pro163=) c.*282C>G (n.*282C>G) c.90+12594C>G (n.90+12594C>G) c.279C>G (p.Pro93=) c.583C>G (n.583C>G) c.252C>G (p.Pro84=) c.87C>G (p.Pro29=) n.533C>G | |
| 13 | g.47988586G>T | CA483555520 | SUCLA2 | c.315C>A (p.Pro105=) c.489C>A (p.Pro163=) c.*282C>A (n.*282C>A) c.90+12594C>A (n.90+12594C>A) c.279C>A (p.Pro93=) c.583C>A (n.583C>A) c.252C>A (p.Pro84=) c.87C>A (p.Pro29=) n.533C>A | |
| 13 | g.47988588del | CA2575412476 | SUCLA2 | c.315del (p.Arg106GlyfsTer8) c.489del (p.Arg164GlyfsTer8) c.*282del (n.*282del) c.90+12594del (n.90+12594del) c.279del (p.Arg94GlyfsTer8) c.583del (n.583del) c.252del (p.Arg85GlyfsTer8) c.87del (p.Arg30GlyfsTer8) n.533del | |
| 13 | g.47988587G>A | CA388150405 | SUCLA2 | c.314C>T (p.Pro105Leu) c.488C>T (p.Pro163Leu) c.*281C>T (n.*281C>T) c.90+12593C>T (n.90+12593C>T) c.278C>T (p.Pro93Leu) c.582C>T (n.582C>T) c.251C>T (p.Pro84Leu) c.86C>T (p.Pro29Leu) n.532C>T | |
| 13 | g.47988587G>C | CA388150407 | SUCLA2 | c.314C>G (p.Pro105Arg) c.488C>G (p.Pro163Arg) c.*281C>G (n.*281C>G) c.90+12593C>G (n.90+12593C>G) c.278C>G (p.Pro93Arg) c.582C>G (n.582C>G) c.251C>G (p.Pro84Arg) c.86C>G (p.Pro29Arg) n.532C>G | gnomAD v4 |
| 13 | g.47988587G>T | CA388150409 | SUCLA2 | c.314C>A (p.Pro105His) c.488C>A (p.Pro163His) c.*281C>A (n.*281C>A) c.90+12593C>A (n.90+12593C>A) c.278C>A (p.Pro93His) c.582C>A (n.582C>A) c.251C>A (p.Pro84His) c.86C>A (p.Pro29His) n.532C>A | |
| 13 | g.47988588G>A | CA388150412 | SUCLA2 | c.313C>T (p.Pro105Ser) c.487C>T (p.Pro163Ser) c.*280C>T (n.*280C>T) c.90+12592C>T (n.90+12592C>T) c.277C>T (p.Pro93Ser) c.581C>T (n.581C>T) c.250C>T (p.Pro84Ser) c.85C>T (p.Pro29Ser) n.531C>T | gnomAD v4 |
| 13 | g.47988588G>C | CA388150414 | SUCLA2 | c.313C>G (p.Pro105Ala) c.487C>G (p.Pro163Ala) c.*280C>G (n.*280C>G) c.90+12592C>G (n.90+12592C>G) c.277C>G (p.Pro93Ala) c.581C>G (n.581C>G) c.250C>G (p.Pro84Ala) c.85C>G (p.Pro29Ala) n.531C>G | |
| 13 | g.47988588G>T | CA388150416 | SUCLA2 | c.313C>A (p.Pro105Thr) c.487C>A (p.Pro163Thr) c.*280C>A (n.*280C>A) c.90+12592C>A (n.90+12592C>A) c.277C>A (p.Pro93Thr) c.581C>A (n.581C>A) c.250C>A (p.Pro84Thr) c.85C>A (p.Pro29Thr) n.531C>A | |
| 13 | g.47988589A>C | CA388150418 | SUCLA2 | c.312T>G (p.Tyr104Ter) c.486T>G (p.Tyr162Ter) c.*279T>G (n.*279T>G) c.90+12591T>G (n.90+12591T>G) c.276T>G (p.Tyr92Ter) c.580T>G (n.580T>G) c.249T>G (p.Tyr83Ter) c.84T>G (p.Tyr28Ter) n.530T>G | gnomAD v4 |
| 13 | g.47988589A>G | CA483555521 | SUCLA2 | c.312T>C (p.Tyr104=) c.486T>C (p.Tyr162=) c.*279T>C (n.*279T>C) c.90+12591T>C (n.90+12591T>C) c.276T>C (p.Tyr92=) c.580T>C (n.580T>C) c.249T>C (p.Tyr83=) c.84T>C (p.Tyr28=) n.530T>C | |
| 13 | g.47988589A>T | CA388150420 | SUCLA2 | c.312T>A (p.Tyr104Ter) c.486T>A (p.Tyr162Ter) c.*279T>A (n.*279T>A) c.90+12591T>A (n.90+12591T>A) c.276T>A (p.Tyr92Ter) c.580T>A (n.580T>A) c.249T>A (p.Tyr83Ter) c.84T>A (p.Tyr28Ter) n.530T>A | |
| 13 | g.47988590T>A | CA388150458 | SUCLA2 | c.311A>T (p.Tyr104Phe) c.485A>T (p.Tyr162Phe) c.*278A>T (n.*278A>T) c.90+12590A>T (n.90+12590A>T) c.275A>T (p.Tyr92Phe) c.579A>T (n.579A>T) c.248A>T (p.Tyr83Phe) c.83A>T (p.Tyr28Phe) n.529A>T | |
| 13 | g.47988590T>C | CA388150459 | SUCLA2 | c.311A>G (p.Tyr104Cys) c.485A>G (p.Tyr162Cys) c.*278A>G (n.*278A>G) c.90+12590A>G (n.90+12590A>G) c.275A>G (p.Tyr92Cys) c.579A>G (n.579A>G) c.248A>G (p.Tyr83Cys) c.83A>G (p.Tyr28Cys) n.529A>G | gnomAD v4 |
| 13 | g.47988590T>G | CA388150461 | SUCLA2 | c.311A>C (p.Tyr104Ser) c.485A>C (p.Tyr162Ser) c.*278A>C (n.*278A>C) c.90+12590A>C (n.90+12590A>C) c.275A>C (p.Tyr92Ser) c.579A>C (n.579A>C) c.248A>C (p.Tyr83Ser) c.83A>C (p.Tyr28Ser) n.529A>C | |
| 13 | g.47988591A= | CA2089813773 | SUCLA2 | c.310T= (p.Tyr104=) c.484T= (p.Tyr162=) c.*277T= (n.*277T=) c.90+12589T= (n.90+12589T=) c.274T= (p.Tyr92=) c.578T= (n.578T=) c.247T= (p.Tyr83=) c.82T= (p.Tyr28=) n.528T= | |
| 13 | g.47988591A>C | CA388150466 | SUCLA2 | c.310T>G (p.Tyr104Asp) c.484T>G (p.Tyr162Asp) c.*277T>G (n.*277T>G) c.90+12589T>G (n.90+12589T>G) c.274T>G (p.Tyr92Asp) c.578T>G (n.578T>G) c.247T>G (p.Tyr83Asp) c.82T>G (p.Tyr28Asp) n.528T>G | |
| 13 | g.47988591A>G | CA388150463 | SUCLA2 | c.310T>C (p.Tyr104His) c.484T>C (p.Tyr162His) c.*277T>C (n.*277T>C) c.90+12589T>C (n.90+12589T>C) c.274T>C (p.Tyr92His) c.578T>C (n.578T>C) c.247T>C (p.Tyr83His) c.82T>C (p.Tyr28His) n.528T>C | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47988591A>T | CA388150465 | SUCLA2 | c.310T>A (p.Tyr104Asn) c.484T>A (p.Tyr162Asn) c.*277T>A (n.*277T>A) c.90+12589T>A (n.90+12589T>A) c.274T>A (p.Tyr92Asn) c.578T>A (n.578T>A) c.247T>A (p.Tyr83Asn) c.82T>A (p.Tyr28Asn) n.528T>A | |
| 13 | g.47988591_47988592insAATTTATGACATTCAATTTCAAAAGTCCATTATTG | CA2566179477 | SUCLA2 | c.309_310insCAATAATGGACTTTTGAAATTGAATGTCATAAATT (p.Tyr104GlnfsTer2) c.483_484insCAATAATGGACTTTTGAAATTGAATGTCATAAATT (p.Tyr162GlnfsTer2) c.*276_*277insCAATAATGGACTTTTGAAATTGAATGTCATAAATT (n.*276_*277insCAATAATGGACTTTTGAAATTGAATGTCATAAATT) c.90+12588_90+12589insCAATAATGGACTTTTGAAATTGAATGTCATAAATT (n.90+12588_90+12589insCAATAATGGACTTTTGAAATTGAATGTCATAAATT) c.273_274insCAATAATGGACTTTTGAAATTGAATGTCATAAATT (p.Tyr92GlnfsTer2) c.577_578insCAATAATGGACTTTTGAAATTGAATGTCATAAATT (n.577_578insCAATAATGGACTTTTGAAATTGAATGTCATAAATT) c.246_247insCAATAATGGACTTTTGAAATTGAATGTCATAAATT (p.Tyr83GlnfsTer2) c.81_82insCAATAATGGACTTTTGAAATTGAATGTCATAAATT (p.Tyr28GlnfsTer2) n.527_528insCAATAATGGACTTTTGAAATTGAATGTCATAAATT | |
| 13 | g.47988592T>A | CA388150468 | SUCLA2 | c.309A>T (p.Lys103Asn) c.483A>T (p.Lys161Asn) c.*276A>T (n.*276A>T) c.90+12588A>T (n.90+12588A>T) c.273A>T (p.Lys91Asn) c.577A>T (n.577A>T) c.246A>T (p.Lys82Asn) c.81A>T (p.Lys27Asn) n.527A>T | |
| 13 | g.47988592T>C | CA483555522 | SUCLA2 | c.309A>G (p.Lys103=) c.483A>G (p.Lys161=) c.*276A>G (n.*276A>G) c.90+12588A>G (n.90+12588A>G) c.273A>G (p.Lys91=) c.577A>G (n.577A>G) c.246A>G (p.Lys82=) c.81A>G (p.Lys27=) n.527A>G | |
| 13 | g.47988592T>G | CA388150469 | SUCLA2 | c.309A>C (p.Lys103Asn) c.483A>C (p.Lys161Asn) c.*276A>C (n.*276A>C) c.90+12588A>C (n.90+12588A>C) c.273A>C (p.Lys91Asn) c.577A>C (n.577A>C) c.246A>C (p.Lys82Asn) c.81A>C (p.Lys27Asn) n.527A>C | |
| 13 | g.47988593T>A | CA388150473 | SUCLA2 | c.308A>T (p.Lys103Ile) c.482A>T (p.Lys161Ile) c.*275A>T (n.*275A>T) c.90+12587A>T (n.90+12587A>T) c.272A>T (p.Lys91Ile) c.576A>T (n.576A>T) c.245A>T (p.Lys82Ile) c.80A>T (p.Lys27Ile) n.526A>T | |
| 13 | g.47988593T>C | CA388150474 | SUCLA2 | c.308A>G (p.Lys103Arg) c.482A>G (p.Lys161Arg) c.*275A>G (n.*275A>G) c.90+12587A>G (n.90+12587A>G) c.272A>G (p.Lys91Arg) c.576A>G (n.576A>G) c.245A>G (p.Lys82Arg) c.80A>G (p.Lys27Arg) n.526A>G | |
| 13 | g.47988593T>G | CA388150476 | SUCLA2 | c.308A>C (p.Lys103Thr) c.482A>C (p.Lys161Thr) c.*275A>C (n.*275A>C) c.90+12587A>C (n.90+12587A>C) c.272A>C (p.Lys91Thr) c.576A>C (n.576A>C) c.245A>C (p.Lys82Thr) c.80A>C (p.Lys27Thr) n.526A>C | |
| 13 | g.47988594T>A | CA388150478 | SUCLA2 | c.307A>T (p.Lys103Ter) c.481A>T (p.Lys161Ter) c.*274A>T (n.*274A>T) c.90+12586A>T (n.90+12586A>T) c.271A>T (p.Lys91Ter) c.575A>T (n.575A>T) c.244A>T (p.Lys82Ter) c.79A>T (p.Lys27Ter) n.525A>T | |
| 13 | g.47988594T>C | CA388150480 | SUCLA2 | c.307A>G (p.Lys103Glu) c.481A>G (p.Lys161Glu) c.*274A>G (n.*274A>G) c.90+12586A>G (n.90+12586A>G) c.271A>G (p.Lys91Glu) c.575A>G (n.575A>G) c.244A>G (p.Lys82Glu) c.79A>G (p.Lys27Glu) n.525A>G | |
| 13 | g.47988594T>G | CA388150482 | SUCLA2 | c.307A>C (p.Lys103Gln) c.481A>C (p.Lys161Gln) c.*274A>C (n.*274A>C) c.90+12586A>C (n.90+12586A>C) c.271A>C (p.Lys91Gln) c.575A>C (n.575A>C) c.244A>C (p.Lys82Gln) c.79A>C (p.Lys27Gln) n.525A>C | |
| 13 | g.47988595T>A | CA483555523 | SUCLA2 | c.306A>T (p.Arg102=) c.480A>T (p.Arg160=) c.*273A>T (n.*273A>T) c.90+12585A>T (n.90+12585A>T) c.270A>T (p.Arg90=) c.574A>T (n.574A>T) c.243A>T (p.Arg81=) c.78A>T (p.Arg26=) n.524A>T | |
| 13 | g.47988595T>C | CA483555524 | SUCLA2 | c.306A>G (p.Arg102=) c.480A>G (p.Arg160=) c.*273A>G (n.*273A>G) c.90+12585A>G (n.90+12585A>G) c.270A>G (p.Arg90=) c.574A>G (n.574A>G) c.243A>G (p.Arg81=) c.78A>G (p.Arg26=) n.524A>G | gnomAD v4 |
| 13 | g.47988595T>G | CA483555525 | SUCLA2 | c.306A>C (p.Arg102=) c.480A>C (p.Arg160=) c.*273A>C (n.*273A>C) c.90+12585A>C (n.90+12585A>C) c.270A>C (p.Arg90=) c.574A>C (n.574A>C) c.243A>C (p.Arg81=) c.78A>C (p.Arg26=) n.524A>C | |
| 13 | g.47988596C>A | CA6977995 | SUCLA2 | c.305G>T (p.Arg102Leu) c.479G>T (p.Arg160Leu) c.*272G>T (n.*272G>T) c.90+12584G>T (n.90+12584G>T) c.269G>T (p.Arg90Leu) c.573G>T (n.573G>T) c.242G>T (p.Arg81Leu) c.77G>T (p.Arg26Leu) n.523G>T | dbSNP ExAC gnomAD v2 |
| 13 | g.47988596C= | CA2089813774 | SUCLA2 | c.305G= (p.Arg102=) c.479G= (p.Arg160=) c.*272G= (n.*272G=) c.90+12584G= (n.90+12584G=) c.269G= (p.Arg90=) c.573G= (n.573G=) c.242G= (p.Arg81=) c.77G= (p.Arg26=) n.523G= | |
| 13 | g.47988596C>G | CA388150487 | SUCLA2 | c.305G>C (p.Arg102Pro) c.479G>C (p.Arg160Pro) c.*272G>C (n.*272G>C) c.90+12584G>C (n.90+12584G>C) c.269G>C (p.Arg90Pro) c.573G>C (n.573G>C) c.242G>C (p.Arg81Pro) c.77G>C (p.Arg26Pro) n.523G>C | |
| 13 | g.47988596C>T | CA313018 | SUCLA2 | c.305G>A (p.Arg102Gln) c.479G>A (p.Arg160Gln) c.*272G>A (n.*272G>A) c.90+12584G>A (n.90+12584G>A) c.269G>A (p.Arg90Gln) c.573G>A (n.573G>A) c.242G>A (p.Arg81Gln) c.77G>A (p.Arg26Gln) n.523G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.47988597G>A | CA388150489 | SUCLA2 | c.304C>T (p.Arg102Ter) c.478C>T (p.Arg160Ter) c.*271C>T (n.*271C>T) c.90+12583C>T (n.90+12583C>T) c.268C>T (p.Arg90Ter) c.572C>T (n.572C>T) c.241C>T (p.Arg81Ter) c.76C>T (p.Arg26Ter) n.522C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.47988597G>C | CA388150492 | SUCLA2 | c.304C>G (p.Arg102Gly) c.478C>G (p.Arg160Gly) c.*271C>G (n.*271C>G) c.90+12583C>G (n.90+12583C>G) c.268C>G (p.Arg90Gly) c.572C>G (n.572C>G) c.241C>G (p.Arg81Gly) c.76C>G (p.Arg26Gly) n.522C>G | |
| 13 | g.47988597G= | CA2089813775 | SUCLA2 | c.304C= (p.Arg102=) c.478C= (p.Arg160=) c.*271C= (n.*271C=) c.90+12583C= (n.90+12583C=) c.268C= (p.Arg90=) c.572C= (n.572C=) c.241C= (p.Arg81=) c.76C= (p.Arg26=) n.522C= | |
| 13 | g.47988597G>T | CA483555526 | SUCLA2 | c.304C>A (p.Arg102=) c.478C>A (p.Arg160=) c.*271C>A (n.*271C>A) c.90+12583C>A (n.90+12583C>A) c.268C>A (p.Arg90=) c.572C>A (n.572C>A) c.241C>A (p.Arg81=) c.76C>A (p.Arg26=) n.522C>A | |
| 13 | g.47988598C>A | CA388150496 | SUCLA2 | c.303G>T (p.Glu101Asp) c.477G>T (p.Glu159Asp) c.*270G>T (n.*270G>T) c.90+12582G>T (n.90+12582G>T) c.267G>T (p.Glu89Asp) c.571G>T (n.571G>T) c.240G>T (p.Glu80Asp) c.75G>T (p.Glu25Asp) n.521G>T | |
| 13 | g.47988598C= | CA2089813776 | SUCLA2 | c.303G= (p.Glu101=) c.477G= (p.Glu159=) c.*270G= (n.*270G=) c.90+12582G= (n.90+12582G=) c.267G= (p.Glu89=) c.571G= (n.571G=) c.240G= (p.Glu80=) c.75G= (p.Glu25=) n.521G= | |
| 13 | g.47988598C>G | CA388150498 | SUCLA2 | c.303G>C (p.Glu101Asp) c.477G>C (p.Glu159Asp) c.*270G>C (n.*270G>C) c.90+12582G>C (n.90+12582G>C) c.267G>C (p.Glu89Asp) c.571G>C (n.571G>C) c.240G>C (p.Glu80Asp) c.75G>C (p.Glu25Asp) n.521G>C | |
| 13 | g.47988598C>T | CA249276926 | SUCLA2 | c.303G>A (p.Glu101=) c.477G>A (p.Glu159=) c.*270G>A (n.*270G>A) c.90+12582G>A (n.90+12582G>A) c.267G>A (p.Glu89=) c.571G>A (n.571G>A) c.240G>A (p.Glu80=) c.75G>A (p.Glu25=) n.521G>A | dbSNP |
| 13 | g.47988599T>A | CA388150500 | SUCLA2 | c.302A>T (p.Glu101Val) c.476A>T (p.Glu159Val) c.*269A>T (n.*269A>T) c.90+12581A>T (n.90+12581A>T) c.266A>T (p.Glu89Val) c.570A>T (n.570A>T) c.239A>T (p.Glu80Val) c.74A>T (p.Glu25Val) n.520A>T | |
| 13 | g.47988599T>C | CA388150504 | SUCLA2 | c.302A>G (p.Glu101Gly) c.476A>G (p.Glu159Gly) c.*269A>G (n.*269A>G) c.90+12581A>G (n.90+12581A>G) c.266A>G (p.Glu89Gly) c.570A>G (n.570A>G) c.239A>G (p.Glu80Gly) c.74A>G (p.Glu25Gly) n.520A>G | gnomAD v4 |
| 13 | g.47988599T>G | CA388150502 | SUCLA2 | c.302A>C (p.Glu101Ala) c.476A>C (p.Glu159Ala) c.*269A>C (n.*269A>C) c.90+12581A>C (n.90+12581A>C) c.266A>C (p.Glu89Ala) c.570A>C (n.570A>C) c.239A>C (p.Glu80Ala) c.74A>C (p.Glu25Ala) n.520A>C | |
| 13 | g.47988600C>A | CA388150506 | SUCLA2 | c.301G>T (p.Glu101Ter) c.475G>T (p.Glu159Ter) c.*268G>T (n.*268G>T) c.90+12580G>T (n.90+12580G>T) c.265G>T (p.Glu89Ter) c.569G>T (n.569G>T) c.238G>T (p.Glu80Ter) c.73G>T (p.Glu25Ter) n.519G>T | |
| 13 | g.47988600C>G | CA388150507 | SUCLA2 | c.301G>C (p.Glu101Gln) c.475G>C (p.Glu159Gln) c.*268G>C (n.*268G>C) c.90+12580G>C (n.90+12580G>C) c.265G>C (p.Glu89Gln) c.569G>C (n.569G>C) c.238G>C (p.Glu80Gln) c.73G>C (p.Glu25Gln) n.519G>C | |
| 13 | g.47988600C>T | CA388150509 | SUCLA2 | c.301G>A (p.Glu101Lys) c.475G>A (p.Glu159Lys) c.*268G>A (n.*268G>A) c.90+12580G>A (n.90+12580G>A) c.265G>A (p.Glu89Lys) c.569G>A (n.569G>A) c.238G>A (p.Glu80Lys) c.73G>A (p.Glu25Lys) n.519G>A | |
| 13 | g.47988601A>C | CA388150512 | SUCLA2 | c.300T>G (p.Cys100Trp) c.474T>G (p.Cys158Trp) c.*267T>G (n.*267T>G) c.90+12579T>G (n.90+12579T>G) c.264T>G (p.Cys88Trp) c.568T>G (n.568T>G) c.237T>G (p.Cys79Trp) c.72T>G (p.Cys24Trp) n.518T>G | |
| 13 | g.47988601A>G | CA483555527 | SUCLA2 | c.300T>C (p.Cys100=) c.474T>C (p.Cys158=) c.*267T>C (n.*267T>C) c.90+12579T>C (n.90+12579T>C) c.264T>C (p.Cys88=) c.568T>C (n.568T>C) c.237T>C (p.Cys79=) c.72T>C (p.Cys24=) n.518T>C | gnomAD v4 |
| 13 | g.47988601A>T | CA388150514 | SUCLA2 | c.300T>A (p.Cys100Ter) c.474T>A (p.Cys158Ter) c.*267T>A (n.*267T>A) c.90+12579T>A (n.90+12579T>A) c.264T>A (p.Cys88Ter) c.568T>A (n.568T>A) c.237T>A (p.Cys79Ter) c.72T>A (p.Cys24Ter) n.518T>A | |
| 13 | g.47988602C>A | CA388150516 | SUCLA2 | c.299G>T (p.Cys100Phe) c.473G>T (p.Cys158Phe) c.*266G>T (n.*266G>T) c.90+12578G>T (n.90+12578G>T) c.263G>T (p.Cys88Phe) c.567G>T (n.567G>T) c.236G>T (p.Cys79Phe) c.71G>T (p.Cys24Phe) n.517G>T | |
| 13 | g.47988602C= | CA2089813777 | SUCLA2 | c.299G= (p.Cys100=) c.473G= (p.Cys158=) c.*266G= (n.*266G=) c.90+12578G= (n.90+12578G=) c.263G= (p.Cys88=) c.567G= (n.567G=) c.236G= (p.Cys79=) c.71G= (p.Cys24=) n.517G= | |
| 13 | g.47988602C>G | CA388150518 | SUCLA2 | c.299G>C (p.Cys100Ser) c.473G>C (p.Cys158Ser) c.*266G>C (n.*266G>C) c.90+12578G>C (n.90+12578G>C) c.263G>C (p.Cys88Ser) c.567G>C (n.567G>C) c.236G>C (p.Cys79Ser) c.71G>C (p.Cys24Ser) n.517G>C | |
| 13 | g.47988602C>T | CA249276929 | SUCLA2 | c.299G>A (p.Cys100Tyr) c.473G>A (p.Cys158Tyr) c.*266G>A (n.*266G>A) c.90+12578G>A (n.90+12578G>A) c.263G>A (p.Cys88Tyr) c.567G>A (n.567G>A) c.236G>A (p.Cys79Tyr) c.71G>A (p.Cys24Tyr) n.517G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.47988603A>C | CA388150521 | SUCLA2 | c.298T>G (p.Cys100Gly) c.472T>G (p.Cys158Gly) c.*265T>G (n.*265T>G) c.90+12577T>G (n.90+12577T>G) c.262T>G (p.Cys88Gly) c.566T>G (n.566T>G) c.235T>G (p.Cys79Gly) c.70T>G (p.Cys24Gly) n.516T>G | gnomAD v4 |
| 13 | g.47988603A>G | CA388150523 | SUCLA2 | c.298T>C (p.Cys100Arg) c.472T>C (p.Cys158Arg) c.*265T>C (n.*265T>C) c.90+12577T>C (n.90+12577T>C) c.262T>C (p.Cys88Arg) c.566T>C (n.566T>C) c.235T>C (p.Cys79Arg) c.70T>C (p.Cys24Arg) n.516T>C | COSMIC |
| 13 | g.47988603A>T | CA388150525 | SUCLA2 | c.298T>A (p.Cys100Ser) c.472T>A (p.Cys158Ser) c.*265T>A (n.*265T>A) c.90+12577T>A (n.90+12577T>A) c.262T>A (p.Cys88Ser) c.566T>A (n.566T>A) c.235T>A (p.Cys79Ser) c.70T>A (p.Cys24Ser) n.516T>A | |
| 13 | g.47988604G>A | CA483555528 | SUCLA2 | c.297C>T (p.Val99=) c.471C>T (p.Val157=) c.*264C>T (n.*264C>T) c.90+12576C>T (n.90+12576C>T) c.261C>T (p.Val87=) c.565C>T (n.565C>T) c.234C>T (p.Val78=) c.69C>T (p.Val23=) n.515C>T | |
| 13 | g.47988604G>C | CA483555530 | SUCLA2 | c.297C>G (p.Val99=) c.471C>G (p.Val157=) c.*264C>G (n.*264C>G) c.90+12576C>G (n.90+12576C>G) c.261C>G (p.Val87=) c.565C>G (n.565C>G) c.234C>G (p.Val78=) c.69C>G (p.Val23=) n.515C>G | |
| 13 | g.47988604G>T | CA483555529 | SUCLA2 | c.297C>A (p.Val99=) c.471C>A (p.Val157=) c.*264C>A (n.*264C>A) c.90+12576C>A (n.90+12576C>A) c.261C>A (p.Val87=) c.565C>A (n.565C>A) c.234C>A (p.Val78=) c.69C>A (p.Val23=) n.515C>A | |
| 13 | g.47988605A>C | CA388150527 | SUCLA2 | c.296T>G (p.Val99Gly) c.470T>G (p.Val157Gly) c.*263T>G (n.*263T>G) c.90+12575T>G (n.90+12575T>G) c.260T>G (p.Val87Gly) c.564T>G (n.564T>G) c.233T>G (p.Val78Gly) c.68T>G (p.Val23Gly) n.514T>G | |
| 13 | g.47988605A>G | CA388150530 | SUCLA2 | c.296T>C (p.Val99Ala) c.470T>C (p.Val157Ala) c.*263T>C (n.*263T>C) c.90+12575T>C (n.90+12575T>C) c.260T>C (p.Val87Ala) c.564T>C (n.564T>C) c.233T>C (p.Val78Ala) c.68T>C (p.Val23Ala) n.514T>C | |
| 13 | g.47988605A>T | CA388150528 | SUCLA2 | c.296T>A (p.Val99Asp) c.470T>A (p.Val157Asp) c.*263T>A (n.*263T>A) c.90+12575T>A (n.90+12575T>A) c.260T>A (p.Val87Asp) c.564T>A (n.564T>A) c.233T>A (p.Val78Asp) c.68T>A (p.Val23Asp) n.514T>A | |
| 13 | g.47988606C>A | CA388150532 | SUCLA2 | c.295G>T (p.Val99Phe) c.469G>T (p.Val157Phe) c.*262G>T (n.*262G>T) c.90+12574G>T (n.90+12574G>T) c.259G>T (p.Val87Phe) c.563G>T (n.563G>T) c.232G>T (p.Val78Phe) c.67G>T (p.Val23Phe) n.513G>T | gnomAD v4 |
| 13 | g.47988606C>G | CA388150536 | SUCLA2 | c.295G>C (p.Val99Leu) c.469G>C (p.Val157Leu) c.*262G>C (n.*262G>C) c.90+12574G>C (n.90+12574G>C) c.259G>C (p.Val87Leu) c.563G>C (n.563G>C) c.232G>C (p.Val78Leu) c.67G>C (p.Val23Leu) n.513G>C | |
| 13 | g.47988606C>T | CA388150534 | SUCLA2 | c.295G>A (p.Val99Ile) c.469G>A (p.Val157Ile) c.*262G>A (n.*262G>A) c.90+12574G>A (n.90+12574G>A) c.259G>A (p.Val87Ile) c.563G>A (n.563G>A) c.232G>A (p.Val78Ile) c.67G>A (p.Val23Ile) n.513G>A | |
| 13 | g.47988607C>A | CA388150538 | SUCLA2 | c.294G>T (p.Leu98Phe) c.468G>T (p.Leu156Phe) c.*261G>T (n.*261G>T) c.90+12573G>T (n.90+12573G>T) c.258G>T (p.Leu86Phe) c.562G>T (n.562G>T) c.231G>T (p.Leu77Phe) c.66G>T (p.Leu22Phe) n.512G>T | |
| 13 | g.47988607C= | CA2089813778 | SUCLA2 | c.294G= (p.Leu98=) c.468G= (p.Leu156=) c.*261G= (n.*261G=) c.90+12573G= (n.90+12573G=) c.258G= (p.Leu86=) c.562G= (n.562G=) c.231G= (p.Leu77=) c.66G= (p.Leu22=) n.512G= | |
| 13 | g.47988607C>G | CA388150540 | SUCLA2 | c.294G>C (p.Leu98Phe) c.468G>C (p.Leu156Phe) c.*261G>C (n.*261G>C) c.90+12573G>C (n.90+12573G>C) c.258G>C (p.Leu86Phe) c.562G>C (n.562G>C) c.231G>C (p.Leu77Phe) c.66G>C (p.Leu22Phe) n.512G>C | |
| 13 | g.47988607C>T | CA483555531 | SUCLA2 | c.294G>A (p.Leu98=) c.468G>A (p.Leu156=) c.*261G>A (n.*261G>A) c.90+12573G>A (n.90+12573G>A) c.258G>A (p.Leu86=) c.562G>A (n.562G>A) c.231G>A (p.Leu77=) c.66G>A (p.Leu22=) n.512G>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.47988608A= | CA2089813779 | SUCLA2 | c.293T= (p.Leu98=) c.467T= (p.Leu156=) c.*260T= (n.*260T=) c.90+12572T= (n.90+12572T=) c.257T= (p.Leu86=) c.561T= (n.561T=) c.230T= (p.Leu77=) c.65T= (p.Leu22=) n.511T= | |
| 13 | g.47988608A>C | CA249276933 | SUCLA2 | c.293T>G (p.Leu98Trp) c.467T>G (p.Leu156Trp) c.*260T>G (n.*260T>G) c.90+12572T>G (n.90+12572T>G) c.257T>G (p.Leu86Trp) c.561T>G (n.561T>G) c.230T>G (p.Leu77Trp) c.65T>G (p.Leu22Trp) n.511T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.47988608A>G | CA388150543 | SUCLA2 | c.293T>C (p.Leu98Ser) c.467T>C (p.Leu156Ser) c.*260T>C (n.*260T>C) c.90+12572T>C (n.90+12572T>C) c.257T>C (p.Leu86Ser) c.561T>C (n.561T>C) c.230T>C (p.Leu77Ser) c.65T>C (p.Leu22Ser) n.511T>C | |
| 13 | g.47988608A>T | CA388150545 | SUCLA2 | c.293T>A (p.Leu98Ter) c.467T>A (p.Leu156Ter) c.*260T>A (n.*260T>A) c.90+12572T>A (n.90+12572T>A) c.257T>A (p.Leu86Ter) c.561T>A (n.561T>A) c.230T>A (p.Leu77Ter) c.65T>A (p.Leu22Ter) n.511T>A | |
| 13 | g.47988609A>C | CA388150547 | SUCLA2 | c.292T>G (p.Leu98Val) c.466T>G (p.Leu156Val) c.*259T>G (n.*259T>G) c.90+12571T>G (n.90+12571T>G) c.256T>G (p.Leu86Val) c.560T>G (n.560T>G) c.229T>G (p.Leu77Val) c.64T>G (p.Leu22Val) n.510T>G | |
| 13 | g.47988609A>G | CA483555532 | SUCLA2 | c.292T>C (p.Leu98=) c.466T>C (p.Leu156=) c.*259T>C (n.*259T>C) c.90+12571T>C (n.90+12571T>C) c.256T>C (p.Leu86=) c.560T>C (n.560T>C) c.229T>C (p.Leu77=) c.64T>C (p.Leu22=) n.510T>C | ClinVar |
| 13 | g.47988609A>T | CA388150550 | SUCLA2 | c.292T>A (p.Leu98Met) c.466T>A (p.Leu156Met) c.*259T>A (n.*259T>A) c.90+12571T>A (n.90+12571T>A) c.256T>A (p.Leu86Met) c.560T>A (n.560T>A) c.229T>A (p.Leu77Met) c.64T>A (p.Leu22Met) n.510T>A | |
| 13 | g.47988610T>A | CA483555533 | SUCLA2 | c.291A>T (p.Val97=) c.465A>T (p.Val155=) c.*258A>T (n.*258A>T) c.90+12570A>T (n.90+12570A>T) c.255A>T (p.Val85=) c.559A>T (n.559A>T) c.228A>T (p.Val76=) c.63A>T (p.Val21=) n.509A>T | |
| 13 | g.47988610T>C | CA483555534 | SUCLA2 | c.291A>G (p.Val97=) c.465A>G (p.Val155=) c.*258A>G (n.*258A>G) c.90+12570A>G (n.90+12570A>G) c.255A>G (p.Val85=) c.559A>G (n.559A>G) c.228A>G (p.Val76=) c.63A>G (p.Val21=) n.509A>G | dbSNP gnomAD v4 |
| 13 | g.47988610T>G | CA483555535 | SUCLA2 | c.291A>C (p.Val97=) c.465A>C (p.Val155=) c.*258A>C (n.*258A>C) c.90+12570A>C (n.90+12570A>C) c.255A>C (p.Val85=) c.559A>C (n.559A>C) c.228A>C (p.Val76=) c.63A>C (p.Val21=) n.509A>C | |
| 13 | g.47988610T= | CA2089813780 | SUCLA2 | c.291A= (p.Val97=) c.465A= (p.Val155=) c.*258A= (n.*258A=) c.90+12570A= (n.90+12570A=) c.255A= (p.Val85=) c.559A= (n.559A=) c.228A= (p.Val76=) c.63A= (p.Val21=) n.509A= | |
| 13 | g.47988611A>C | CA388150552 | SUCLA2 | c.290T>G (p.Val97Gly) c.464T>G (p.Val155Gly) c.*257T>G (n.*257T>G) c.90+12569T>G (n.90+12569T>G) c.254T>G (p.Val85Gly) c.558T>G (n.558T>G) c.227T>G (p.Val76Gly) c.62T>G (p.Val21Gly) n.508T>G | |
| 13 | g.47988611A>G | CA388150554 | SUCLA2 | c.290T>C (p.Val97Ala) c.464T>C (p.Val155Ala) c.*257T>C (n.*257T>C) c.90+12569T>C (n.90+12569T>C) c.254T>C (p.Val85Ala) c.558T>C (n.558T>C) c.227T>C (p.Val76Ala) c.62T>C (p.Val21Ala) n.508T>C | |
| 13 | g.47988611A>T | CA388150556 | SUCLA2 | c.290T>A (p.Val97Glu) c.464T>A (p.Val155Glu) c.*257T>A (n.*257T>A) c.90+12569T>A (n.90+12569T>A) c.254T>A (p.Val85Glu) c.558T>A (n.558T>A) c.227T>A (p.Val76Glu) c.62T>A (p.Val21Glu) n.508T>A | |
| 13 | g.47988611_47988612delinsAC | CA2089813781 | SUCLA2 | c.289_290delinsGT (p.Val97=) c.463_464delinsGT (p.Val155=) c.*256_*257delinsGT (n.*256_*257delinsGT) c.90+12568_90+12569delinsGT (n.90+12568_90+12569delinsGT) c.253_254delinsGT (p.Val85=) c.557_558delinsGT (n.557_558delinsGT) c.226_227delinsGT (p.Val76=) c.61_62delinsGT (p.Val21=) n.507_508delinsGT | |
| 13 | g.47988612del | CA6977996 | SUCLA2 | c.289del (p.Val97TyrfsTer17) c.463del (p.Val155TyrfsTer17) c.*256del (n.*256del) c.90+12568del (n.90+12568del) c.253del (p.Val85TyrfsTer17) c.557del (n.557del) c.226del (p.Val76TyrfsTer17) c.61del (p.Val21TyrfsTer17) n.507del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.47988612C>A | CA388150563 | SUCLA2 | c.289G>T (p.Val97Leu) c.463G>T (p.Val155Leu) c.*256G>T (n.*256G>T) c.90+12568G>T (n.90+12568G>T) c.253G>T (p.Val85Leu) c.557G>T (n.557G>T) c.226G>T (p.Val76Leu) c.61G>T (p.Val21Leu) n.507G>T | |
| 13 | g.47988612C= | CA2089813782 | SUCLA2 | c.289G= (p.Val97=) c.463G= (p.Val155=) c.*256G= (n.*256G=) c.90+12568G= (n.90+12568G=) c.253G= (p.Val85=) c.557G= (n.557G=) c.226G= (p.Val76=) c.61G= (p.Val21=) n.507G= | |
| 13 | g.47988612C>G | CA388150561 | SUCLA2 | c.289G>C (p.Val97Leu) c.463G>C (p.Val155Leu) c.*256G>C (n.*256G>C) c.90+12568G>C (n.90+12568G>C) c.253G>C (p.Val85Leu) c.557G>C (n.557G>C) c.226G>C (p.Val76Leu) c.61G>C (p.Val21Leu) n.507G>C | |
| 13 | g.47988612C>T | CA6977997 | SUCLA2 | c.289G>A (p.Val97Ile) c.463G>A (p.Val155Ile) c.*256G>A (n.*256G>A) c.90+12568G>A (n.90+12568G>A) c.253G>A (p.Val85Ile) c.557G>A (n.557G>A) c.226G>A (p.Val76Ile) c.61G>A (p.Val21Ile) n.507G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47988613T>A | CA388150565 | SUCLA2 | c.288A>T (p.Gln96His) c.462A>T (p.Gln154His) c.*255A>T (n.*255A>T) c.90+12567A>T (n.90+12567A>T) c.252A>T (p.Gln84His) c.556A>T (n.556A>T) c.225A>T (p.Gln75His) c.60A>T (p.Gln20His) n.506A>T | |
| 13 | g.47988613T>C | CA249276934 | SUCLA2 | c.288A>G (p.Gln96=) c.462A>G (p.Gln154=) c.*255A>G (n.*255A>G) c.90+12567A>G (n.90+12567A>G) c.252A>G (p.Gln84=) c.556A>G (n.556A>G) c.225A>G (p.Gln75=) c.60A>G (p.Gln20=) n.506A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47988613T>G | CA388150567 | SUCLA2 | c.288A>C (p.Gln96His) c.462A>C (p.Gln154His) c.*255A>C (n.*255A>C) c.90+12567A>C (n.90+12567A>C) c.252A>C (p.Gln84His) c.556A>C (n.556A>C) c.225A>C (p.Gln75His) c.60A>C (p.Gln20His) n.506A>C | |
| 13 | g.47988613T= | CA2089813783 | SUCLA2 | c.288A= (p.Gln96=) c.462A= (p.Gln154=) c.*255A= (n.*255A=) c.90+12567A= (n.90+12567A=) c.252A= (p.Gln84=) c.556A= (n.556A=) c.225A= (p.Gln75=) c.60A= (p.Gln20=) n.506A= | |
| 13 | g.47988614del | CA388150568 | SUCLA2 | c.288del (p.Val97TyrfsTer17) c.462del (p.Val155TyrfsTer17) c.*255del (n.*255del) c.90+12567del (n.90+12567del) c.252del (p.Val85TyrfsTer17) c.556del (n.556del) c.225del (p.Val76TyrfsTer17) c.60del (p.Val21TyrfsTer17) n.506del | |
| 13 | g.47988614T>A | CA388150571 | SUCLA2 | c.287A>T (p.Gln96Leu) c.461A>T (p.Gln154Leu) c.*254A>T (n.*254A>T) c.90+12566A>T (n.90+12566A>T) c.251A>T (p.Gln84Leu) c.555A>T (n.555A>T) c.224A>T (p.Gln75Leu) c.59A>T (p.Gln20Leu) n.505A>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47988614T>C | CA388150573 | SUCLA2 | c.287A>G (p.Gln96Arg) c.461A>G (p.Gln154Arg) c.*254A>G (n.*254A>G) c.90+12566A>G (n.90+12566A>G) c.251A>G (p.Gln84Arg) c.555A>G (n.555A>G) c.224A>G (p.Gln75Arg) c.59A>G (p.Gln20Arg) n.505A>G | |
| 13 | g.47988614T>G | CA388150574 | SUCLA2 | c.287A>C (p.Gln96Pro) c.461A>C (p.Gln154Pro) c.*254A>C (n.*254A>C) c.90+12566A>C (n.90+12566A>C) c.251A>C (p.Gln84Pro) c.555A>C (n.555A>C) c.224A>C (p.Gln75Pro) c.59A>C (p.Gln20Pro) n.505A>C | |
| 13 | g.47988614T= | CA2089813784 | SUCLA2 | c.287A= (p.Gln96=) c.461A= (p.Gln154=) c.*254A= (n.*254A=) c.90+12566A= (n.90+12566A=) c.251A= (p.Gln84=) c.555A= (n.555A=) c.224A= (p.Gln75=) c.59A= (p.Gln20=) n.505A= | |
| 13 | g.47988615G>A | CA388150577 | SUCLA2 | c.286C>T (p.Gln96Ter) c.460C>T (p.Gln154Ter) c.*253C>T (n.*253C>T) c.90+12565C>T (n.90+12565C>T) c.250C>T (p.Gln84Ter) c.554C>T (n.554C>T) c.223C>T (p.Gln75Ter) c.58C>T (p.Gln20Ter) n.504C>T | |
| 13 | g.47988615G>C | CA388150579 | SUCLA2 | c.286C>G (p.Gln96Glu) c.460C>G (p.Gln154Glu) c.*253C>G (n.*253C>G) c.90+12565C>G (n.90+12565C>G) c.250C>G (p.Gln84Glu) c.554C>G (n.554C>G) c.223C>G (p.Gln75Glu) c.58C>G (p.Gln20Glu) n.504C>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.47988615G= | CA2089813785 | SUCLA2 | c.286C= (p.Gln96=) c.460C= (p.Gln154=) c.*253C= (n.*253C=) c.90+12565C= (n.90+12565C=) c.250C= (p.Gln84=) c.554C= (n.554C=) c.223C= (p.Gln75=) c.58C= (p.Gln20=) n.504C= | |
| 13 | g.47988615G>T | CA388150582 | SUCLA2 | c.286C>A (p.Gln96Lys) c.460C>A (p.Gln154Lys) c.*253C>A (n.*253C>A) c.90+12565C>A (n.90+12565C>A) c.250C>A (p.Gln84Lys) c.554C>A (n.554C>A) c.223C>A (p.Gln75Lys) c.58C>A (p.Gln20Lys) n.504C>A | |
| 13 | g.47988616A= | CA2089813786 | SUCLA2 | c.285T= (p.Asn95=) c.459T= (p.Asn153=) c.*252T= (n.*252T=) c.90+12564T= (n.90+12564T=) c.249T= (p.Asn83=) c.553T= (n.553T=) c.222T= (p.Asn74=) c.57T= (p.Asn19=) n.503T= | |
| 13 | g.47988616A>C | CA388150584 | SUCLA2 | c.285T>G (p.Asn95Lys) c.459T>G (p.Asn153Lys) c.*252T>G (n.*252T>G) c.90+12564T>G (n.90+12564T>G) c.249T>G (p.Asn83Lys) c.553T>G (n.553T>G) c.222T>G (p.Asn74Lys) c.57T>G (p.Asn19Lys) n.503T>G | |
| 13 | g.47988616A>G | CA6977998 | SUCLA2 | c.285T>C (p.Asn95=) c.459T>C (p.Asn153=) c.*252T>C (n.*252T>C) c.90+12564T>C (n.90+12564T>C) c.249T>C (p.Asn83=) c.553T>C (n.553T>C) c.222T>C (p.Asn74=) c.57T>C (p.Asn19=) n.503T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47988616A>T | CA388150586 | SUCLA2 | c.285T>A (p.Asn95Lys) c.459T>A (p.Asn153Lys) c.*252T>A (n.*252T>A) c.90+12564T>A (n.90+12564T>A) c.249T>A (p.Asn83Lys) c.553T>A (n.553T>A) c.222T>A (p.Asn74Lys) c.57T>A (p.Asn19Lys) n.503T>A | gnomAD v4 |
| 13 | g.47988617T>A | CA249276938 | SUCLA2 | c.284A>T (p.Asn95Ile) c.458A>T (p.Asn153Ile) c.*251A>T (n.*251A>T) c.90+12563A>T (n.90+12563A>T) c.248A>T (p.Asn83Ile) c.552A>T (n.552A>T) c.221A>T (p.Asn74Ile) c.56A>T (p.Asn19Ile) n.502A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47988617T>C | CA388150590 | SUCLA2 | c.284A>G (p.Asn95Ser) c.458A>G (p.Asn153Ser) c.*251A>G (n.*251A>G) c.90+12563A>G (n.90+12563A>G) c.248A>G (p.Asn83Ser) c.552A>G (n.552A>G) c.221A>G (p.Asn74Ser) c.56A>G (p.Asn19Ser) n.502A>G | dbSNP gnomAD v4 |
| 13 | g.47988617T>G | CA388150588 | SUCLA2 | c.284A>C (p.Asn95Thr) c.458A>C (p.Asn153Thr) c.*251A>C (n.*251A>C) c.90+12563A>C (n.90+12563A>C) c.248A>C (p.Asn83Thr) c.552A>C (n.552A>C) c.221A>C (p.Asn74Thr) c.56A>C (p.Asn19Thr) n.502A>C | |
| 13 | g.47988617T= | CA2089813787 | SUCLA2 | c.284A= (p.Asn95=) c.458A= (p.Asn153=) c.*251A= (n.*251A=) c.90+12563A= (n.90+12563A=) c.248A= (p.Asn83=) c.552A= (n.552A=) c.221A= (p.Asn74=) c.56A= (p.Asn19=) n.502A= | |
| 13 | g.47988618T>A | CA388150595 | SUCLA2 | c.283A>T (p.Asn95Tyr) c.457A>T (p.Asn153Tyr) c.*250A>T (n.*250A>T) c.90+12562A>T (n.90+12562A>T) c.247A>T (p.Asn83Tyr) c.551A>T (n.551A>T) c.220A>T (p.Asn74Tyr) c.55A>T (p.Asn19Tyr) n.501A>T | |
| 13 | g.47988618T>C | CA388150597 | SUCLA2 | c.283A>G (p.Asn95Asp) c.457A>G (p.Asn153Asp) c.*250A>G (n.*250A>G) c.90+12562A>G (n.90+12562A>G) c.247A>G (p.Asn83Asp) c.551A>G (n.551A>G) c.220A>G (p.Asn74Asp) c.55A>G (p.Asn19Asp) n.501A>G | |
| 13 | g.47988618T>G | CA388150599 | SUCLA2 | c.283A>C (p.Asn95His) c.457A>C (p.Asn153His) c.*250A>C (n.*250A>C) c.90+12562A>C (n.90+12562A>C) c.247A>C (p.Asn83His) c.551A>C (n.551A>C) c.220A>C (p.Asn74His) c.55A>C (p.Asn19His) n.501A>C | |
| 13 | g.47988619G>A | CA483555536 | SUCLA2 | c.282C>T (p.Cys94=) c.456C>T (p.Cys152=) c.*249C>T (n.*249C>T) c.90+12561C>T (n.90+12561C>T) c.246C>T (p.Cys82=) c.550C>T (n.550C>T) c.219C>T (p.Cys73=) c.54C>T (p.Cys18=) n.500C>T | |
| 13 | g.47988619G>C | CA388150602 | SUCLA2 | c.282C>G (p.Cys94Trp) c.456C>G (p.Cys152Trp) c.*249C>G (n.*249C>G) c.90+12561C>G (n.90+12561C>G) c.246C>G (p.Cys82Trp) c.550C>G (n.550C>G) c.219C>G (p.Cys73Trp) c.54C>G (p.Cys18Trp) n.500C>G | |
| 13 | g.47988619G= | CA2089813788 | SUCLA2 | c.282C= (p.Cys94=) c.456C= (p.Cys152=) c.*249C= (n.*249C=) c.90+12561C= (n.90+12561C=) c.246C= (p.Cys82=) c.550C= (n.550C=) c.219C= (p.Cys73=) c.54C= (p.Cys18=) n.500C= | |
| 13 | g.47988619G>T | CA388150603 | SUCLA2 | c.282C>A (p.Cys94Ter) c.456C>A (p.Cys152Ter) c.*249C>A (n.*249C>A) c.90+12561C>A (n.90+12561C>A) c.246C>A (p.Cys82Ter) c.550C>A (n.550C>A) c.219C>A (p.Cys73Ter) c.54C>A (p.Cys18Ter) n.500C>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.47988619_47988621delinsTCT | CA2695218039 | SUCLA2 | c.280_282delinsAGA (p.Cys94Arg) c.454_456delinsAGA (p.Cys152Arg) c.*247_*249delinsAGA (n.*247_*249delinsAGA) c.90+12559_90+12561delinsAGA (n.90+12559_90+12561delinsAGA) c.244_246delinsAGA (p.Cys82Arg) c.548_550delinsAGA (n.548_550delinsAGA) c.217_219delinsAGA (p.Cys73Arg) c.52_54delinsAGA (p.Cys18Arg) n.498_500delinsAGA | |
| 13 | g.47988620C>A | CA388150605 | SUCLA2 | c.281G>T (p.Cys94Phe) c.455G>T (p.Cys152Phe) c.*248G>T (n.*248G>T) c.90+12560G>T (n.90+12560G>T) c.245G>T (p.Cys82Phe) c.549G>T (n.549G>T) c.218G>T (p.Cys73Phe) c.53G>T (p.Cys18Phe) n.499G>T | |
| 13 | g.47988620C>G | CA388150607 | SUCLA2 | c.281G>C (p.Cys94Ser) c.455G>C (p.Cys152Ser) c.*248G>C (n.*248G>C) c.90+12560G>C (n.90+12560G>C) c.245G>C (p.Cys82Ser) c.549G>C (n.549G>C) c.218G>C (p.Cys73Ser) c.53G>C (p.Cys18Ser) n.499G>C | |
| 13 | g.47988620C>T | CA388150608 | SUCLA2 | c.281G>A (p.Cys94Tyr) c.455G>A (p.Cys152Tyr) c.*248G>A (n.*248G>A) c.90+12560G>A (n.90+12560G>A) c.245G>A (p.Cys82Tyr) c.549G>A (n.549G>A) c.218G>A (p.Cys73Tyr) c.53G>A (p.Cys18Tyr) n.499G>A | ClinVar |
| 13 | g.47988621A= | CA2089813789 | SUCLA2 | c.280T= (p.Cys94=) c.454T= (p.Cys152=) c.*247T= (n.*247T=) c.90+12559T= (n.90+12559T=) c.244T= (p.Cys82=) c.548T= (n.548T=) c.217T= (p.Cys73=) c.52T= (p.Cys18=) n.498T= | |
| 13 | g.47988621A>C | CA388150610 | SUCLA2 | c.280T>G (p.Cys94Gly) c.454T>G (p.Cys152Gly) c.*247T>G (n.*247T>G) c.90+12559T>G (n.90+12559T>G) c.244T>G (p.Cys82Gly) c.548T>G (n.548T>G) c.217T>G (p.Cys73Gly) c.52T>G (p.Cys18Gly) n.498T>G | gnomAD v4 |
| 13 | g.47988621A>G | CA388150612 | SUCLA2 | c.280T>C (p.Cys94Arg) c.454T>C (p.Cys152Arg) c.*247T>C (n.*247T>C) c.90+12559T>C (n.90+12559T>C) c.244T>C (p.Cys82Arg) c.548T>C (n.548T>C) c.217T>C (p.Cys73Arg) c.52T>C (p.Cys18Arg) n.498T>C | gnomAD v4 |
| 13 | g.47988621A>T | CA388150615 | SUCLA2 | c.280T>A (p.Cys94Ser) c.454T>A (p.Cys152Ser) c.*247T>A (n.*247T>A) c.90+12559T>A (n.90+12559T>A) c.244T>A (p.Cys82Ser) c.548T>A (n.548T>A) c.217T>A (p.Cys73Ser) c.52T>A (p.Cys18Ser) n.498T>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.47988622T>A | CA483555537 | SUCLA2 | c.279A>T (p.Ile93=) c.453A>T (p.Ile151=) c.*246A>T (n.*246A>T) c.90+12558A>T (n.90+12558A>T) c.243A>T (p.Ile81=) c.547A>T (n.547A>T) c.216A>T (p.Ile72=) c.51A>T (p.Ile17=) n.497A>T | |
| 13 | g.47988622T>C | CA388150616 | SUCLA2 | c.279A>G (p.Ile93Met) c.453A>G (p.Ile151Met) c.*246A>G (n.*246A>G) c.90+12558A>G (n.90+12558A>G) c.243A>G (p.Ile81Met) c.547A>G (n.547A>G) c.216A>G (p.Ile72Met) c.51A>G (p.Ile17Met) n.497A>G | |
| 13 | g.47988622T>G | CA483555538 | SUCLA2 | c.279A>C (p.Ile93=) c.453A>C (p.Ile151=) c.*246A>C (n.*246A>C) c.90+12558A>C (n.90+12558A>C) c.243A>C (p.Ile81=) c.547A>C (n.547A>C) c.216A>C (p.Ile72=) c.51A>C (p.Ile17=) n.497A>C | |
| 13 | g.47988623A= | CA2089813790 | SUCLA2 | c.278T= (p.Ile93=) c.452T= (p.Ile151=) c.*245T= (n.*245T=) c.90+12557T= (n.90+12557T=) c.242T= (p.Ile81=) c.546T= (n.546T=) c.215T= (p.Ile72=) c.50T= (p.Ile17=) n.496T= | |
| 13 | g.47988623A>C | CA388150619 | SUCLA2 | c.278T>G (p.Ile93Arg) c.452T>G (p.Ile151Arg) c.*245T>G (n.*245T>G) c.90+12557T>G (n.90+12557T>G) c.242T>G (p.Ile81Arg) c.546T>G (n.546T>G) c.215T>G (p.Ile72Arg) c.50T>G (p.Ile17Arg) n.496T>G | |
| 13 | g.47988623A>G | CA388150621 | SUCLA2 | c.278T>C (p.Ile93Thr) c.452T>C (p.Ile151Thr) c.*245T>C (n.*245T>C) c.90+12557T>C (n.90+12557T>C) c.242T>C (p.Ile81Thr) c.546T>C (n.546T>C) c.215T>C (p.Ile72Thr) c.50T>C (p.Ile17Thr) n.496T>C | dbSNP |
| 13 | g.47988623A>T | CA249276939 | SUCLA2 | c.278T>A (p.Ile93Lys) c.452T>A (p.Ile151Lys) c.*245T>A (n.*245T>A) c.90+12557T>A (n.90+12557T>A) c.242T>A (p.Ile81Lys) c.546T>A (n.546T>A) c.215T>A (p.Ile72Lys) c.50T>A (p.Ile17Lys) n.496T>A | dbSNP |
| 13 | g.47988624T>A | CA388150624 | SUCLA2 | c.277A>T (p.Ile93Leu) c.451A>T (p.Ile151Leu) c.*244A>T (n.*244A>T) c.90+12556A>T (n.90+12556A>T) c.241A>T (p.Ile81Leu) c.545A>T (n.545A>T) c.214A>T (p.Ile72Leu) c.49A>T (p.Ile17Leu) n.495A>T | |
| 13 | g.47988624T>C | CA388150626 | SUCLA2 | c.277A>G (p.Ile93Val) c.451A>G (p.Ile151Val) c.*244A>G (n.*244A>G) c.90+12556A>G (n.90+12556A>G) c.241A>G (p.Ile81Val) c.545A>G (n.545A>G) c.214A>G (p.Ile72Val) c.49A>G (p.Ile17Val) n.495A>G | |
| 13 | g.47988624T>G | CA388150628 | SUCLA2 | c.277A>C (p.Ile93Leu) c.451A>C (p.Ile151Leu) c.*244A>C (n.*244A>C) c.90+12556A>C (n.90+12556A>C) c.241A>C (p.Ile81Leu) c.545A>C (n.545A>C) c.214A>C (p.Ile72Leu) c.49A>C (p.Ile17Leu) n.495A>C | |
| 13 | g.47988625T>A | CA388150630 | SUCLA2 | c.276A>T (p.Arg92Ser) c.450A>T (p.Arg150Ser) c.*243A>T (n.*243A>T) c.90+12555A>T (n.90+12555A>T) c.240A>T (p.Arg80Ser) c.544A>T (n.544A>T) c.213A>T (p.Arg71Ser) c.48A>T (p.Arg16Ser) n.494A>T | |
| 13 | g.47988625T>C | CA483555539 | SUCLA2 | c.276A>G (p.Arg92=) c.450A>G (p.Arg150=) c.*243A>G (n.*243A>G) c.90+12555A>G (n.90+12555A>G) c.240A>G (p.Arg80=) c.544A>G (n.544A>G) c.213A>G (p.Arg71=) c.48A>G (p.Arg16=) n.494A>G | dbSNP |
| 13 | g.47988625T>G | CA388150631 | SUCLA2 | c.276A>C (p.Arg92Ser) c.450A>C (p.Arg150Ser) c.*243A>C (n.*243A>C) c.90+12555A>C (n.90+12555A>C) c.240A>C (p.Arg80Ser) c.544A>C (n.544A>C) c.213A>C (p.Arg71Ser) c.48A>C (p.Arg16Ser) n.494A>C | |
| 13 | g.47988625T= | CA2089813791 | SUCLA2 | c.276A= (p.Arg92=) c.450A= (p.Arg150=) c.*243A= (n.*243A=) c.90+12555A= (n.90+12555A=) c.240A= (p.Arg80=) c.544A= (n.544A=) c.213A= (p.Arg71=) c.48A= (p.Arg16=) n.494A= | |
| 13 | g.47988626C>A | CA388150637 | SUCLA2 | c.275G>T (p.Arg92Ile) c.449G>T (p.Arg150Ile) c.*242G>T (n.*242G>T) c.90+12554G>T (n.90+12554G>T) c.239G>T (p.Arg80Ile) c.543G>T (n.543G>T) c.212G>T (p.Arg71Ile) c.47G>T (p.Arg16Ile) n.493G>T | |
| 13 | g.47988626C= | CA2089813792 | SUCLA2 | c.275G= (p.Arg92=) c.449G= (p.Arg150=) c.*242G= (n.*242G=) c.90+12554G= (n.90+12554G=) c.239G= (p.Arg80=) c.543G= (n.543G=) c.212G= (p.Arg71=) c.47G= (p.Arg16=) n.493G= | |
| 13 | g.47988626C>G | CA249276943 | SUCLA2 | c.275G>C (p.Arg92Thr) c.449G>C (p.Arg150Thr) c.*242G>C (n.*242G>C) c.90+12554G>C (n.90+12554G>C) c.239G>C (p.Arg80Thr) c.543G>C (n.543G>C) c.212G>C (p.Arg71Thr) c.47G>C (p.Arg16Thr) n.493G>C | dbSNP gnomAD v4 |
| 13 | g.47988626C>T | CA388150635 | SUCLA2 | c.275G>A (p.Arg92Lys) c.449G>A (p.Arg150Lys) c.*242G>A (n.*242G>A) c.90+12554G>A (n.90+12554G>A) c.239G>A (p.Arg80Lys) c.543G>A (n.543G>A) c.212G>A (p.Arg71Lys) c.47G>A (p.Arg16Lys) n.493G>A | |
| 13 | g.47988627T>A | CA388150644 | SUCLA2 | c.274A>T (p.Arg92Ter) c.448A>T (p.Arg150Ter) c.*241A>T (n.*241A>T) c.90+12553A>T (n.90+12553A>T) c.238A>T (p.Arg80Ter) c.542A>T (n.542A>T) c.211A>T (p.Arg71Ter) c.46A>T (p.Arg16Ter) n.492A>T | |
| 13 | g.47988627T>C | CA388150646 | SUCLA2 | c.274A>G (p.Arg92Gly) c.448A>G (p.Arg150Gly) c.*241A>G (n.*241A>G) c.90+12553A>G (n.90+12553A>G) c.238A>G (p.Arg80Gly) c.542A>G (n.542A>G) c.211A>G (p.Arg71Gly) c.46A>G (p.Arg16Gly) n.492A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47988627T>G | CA483555540 | SUCLA2 | c.274A>C (p.Arg92=) c.448A>C (p.Arg150=) c.*241A>C (n.*241A>C) c.90+12553A>C (n.90+12553A>C) c.238A>C (p.Arg80=) c.542A>C (n.542A>C) c.211A>C (p.Arg71=) c.46A>C (p.Arg16=) n.492A>C | |
| 13 | g.47988627T= | CA2089813793 | SUCLA2 | c.274A= (p.Arg92=) c.448A= (p.Arg150=) c.*241A= (n.*241A=) c.90+12553A= (n.90+12553A=) c.238A= (p.Arg80=) c.542A= (n.542A=) c.211A= (p.Arg71=) c.46A= (p.Arg16=) n.492A= | |
| 13 | g.47988628G>A | CA483555541 | SUCLA2 | c.273C>T (p.Gly91=) c.447C>T (p.Gly149=) c.*240C>T (n.*240C>T) c.90+12552C>T (n.90+12552C>T) c.237C>T (p.Gly79=) c.541C>T (n.541C>T) c.210C>T (p.Gly70=) c.45C>T (p.Gly15=) n.491C>T | |
| 13 | g.47988628G>C | CA483555542 | SUCLA2 | c.273C>G (p.Gly91=) c.447C>G (p.Gly149=) c.*240C>G (n.*240C>G) c.90+12552C>G (n.90+12552C>G) c.237C>G (p.Gly79=) c.541C>G (n.541C>G) c.210C>G (p.Gly70=) c.45C>G (p.Gly15=) n.491C>G | |
| 13 | g.47988628G>T | CA483555543 | SUCLA2 | c.273C>A (p.Gly91=) c.447C>A (p.Gly149=) c.*240C>A (n.*240C>A) c.90+12552C>A (n.90+12552C>A) c.237C>A (p.Gly79=) c.541C>A (n.541C>A) c.210C>A (p.Gly70=) c.45C>A (p.Gly15=) n.491C>A | |
| 13 | g.47988629C>A | CA388150649 | SUCLA2 | c.272G>T (p.Gly91Val) c.446G>T (p.Gly149Val) c.*239G>T (n.*239G>T) c.90+12551G>T (n.90+12551G>T) c.236G>T (p.Gly79Val) c.540G>T (n.540G>T) c.209G>T (p.Gly70Val) c.44G>T (p.Gly15Val) n.490G>T | |
| 13 | g.47988629C>G | CA388150651 | SUCLA2 | c.272G>C (p.Gly91Ala) c.446G>C (p.Gly149Ala) c.*239G>C (n.*239G>C) c.90+12551G>C (n.90+12551G>C) c.236G>C (p.Gly79Ala) c.540G>C (n.540G>C) c.209G>C (p.Gly70Ala) c.44G>C (p.Gly15Ala) n.490G>C | |
| 13 | g.47988629C>T | CA388150653 | SUCLA2 | c.272G>A (p.Gly91Asp) c.446G>A (p.Gly149Asp) c.*239G>A (n.*239G>A) c.90+12551G>A (n.90+12551G>A) c.236G>A (p.Gly79Asp) c.540G>A (n.540G>A) c.209G>A (p.Gly70Asp) c.44G>A (p.Gly15Asp) n.490G>A | |
| 13 | g.47988631dup | CA2559978378 | SUCLA2 | c.272dup (p.Arg92GlnfsTer10) c.446dup (p.Arg150GlnfsTer10) c.*239dup (n.*239dup) c.90+12551dup (n.90+12551dup) c.236dup (p.Arg80GlnfsTer10) c.540dup (n.540dup) c.209dup (p.Arg71GlnfsTer10) c.44dup (p.Arg16GlnfsTer10) n.490dup | |
| 13 | g.47988630C>A | CA388150656 | SUCLA2 | c.271G>T (p.Gly91Cys) c.445G>T (p.Gly149Cys) c.*238G>T (n.*238G>T) c.90+12550G>T (n.90+12550G>T) c.235G>T (p.Gly79Cys) c.539G>T (n.539G>T) c.208G>T (p.Gly70Cys) c.43G>T (p.Gly15Cys) n.489G>T | |
| 13 | g.47988630C= | CA2089813794 | SUCLA2 | c.271G= (p.Gly91=) c.445G= (p.Gly149=) c.*238G= (n.*238G=) c.90+12550G= (n.90+12550G=) c.235G= (p.Gly79=) c.539G= (n.539G=) c.208G= (p.Gly70=) c.43G= (p.Gly15=) n.489G= | |
| 13 | g.47988630C>G | CA388150660 | SUCLA2 | c.271G>C (p.Gly91Arg) c.445G>C (p.Gly149Arg) c.*238G>C (n.*238G>C) c.90+12550G>C (n.90+12550G>C) c.235G>C (p.Gly79Arg) c.539G>C (n.539G>C) c.208G>C (p.Gly70Arg) c.43G>C (p.Gly15Arg) n.489G>C | |
| 13 | g.47988630C>T | CA388150659 | SUCLA2 | c.271G>A (p.Gly91Ser) c.445G>A (p.Gly149Ser) c.*238G>A (n.*238G>A) c.90+12550G>A (n.90+12550G>A) c.235G>A (p.Gly79Ser) c.539G>A (n.539G>A) c.208G>A (p.Gly70Ser) c.43G>A (p.Gly15Ser) n.489G>A | dbSNP |
| 13 | g.47988631C>A | CA388150661 | SUCLA2 | c.270G>T (p.Lys90Asn) c.444G>T (p.Lys148Asn) c.*237G>T (n.*237G>T) c.90+12549G>T (n.90+12549G>T) c.234G>T (p.Lys78Asn) c.538G>T (n.538G>T) c.207G>T (p.Lys69Asn) c.42G>T (p.Lys14Asn) n.488G>T | |
| 13 | g.47988631C= | CA2089813795 | SUCLA2 | c.270G= (p.Lys90=) c.444G= (p.Lys148=) c.*237G= (n.*237G=) c.90+12549G= (n.90+12549G=) c.234G= (p.Lys78=) c.538G= (n.538G=) c.207G= (p.Lys69=) c.42G= (p.Lys14=) n.488G= | |
| 13 | g.47988631C>G | CA388150663 | SUCLA2 | c.270G>C (p.Lys90Asn) c.444G>C (p.Lys148Asn) c.*237G>C (n.*237G>C) c.90+12549G>C (n.90+12549G>C) c.234G>C (p.Lys78Asn) c.538G>C (n.538G>C) c.207G>C (p.Lys69Asn) c.42G>C (p.Lys14Asn) n.488G>C | |
| 13 | g.47988631C>T | CA6977999 | SUCLA2 | c.270G>A (p.Lys90=) c.444G>A (p.Lys148=) c.*237G>A (n.*237G>A) c.90+12549G>A (n.90+12549G>A) c.234G>A (p.Lys78=) c.538G>A (n.538G>A) c.207G>A (p.Lys69=) c.42G>A (p.Lys14=) n.488G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47988632T>A | CA388150664 | SUCLA2 | c.269A>T (p.Lys90Met) c.443A>T (p.Lys148Met) c.*236A>T (n.*236A>T) c.90+12548A>T (n.90+12548A>T) c.233A>T (p.Lys78Met) c.537A>T (n.537A>T) c.206A>T (p.Lys69Met) c.41A>T (p.Lys14Met) n.487A>T | |
| 13 | g.47988632T>C | CA388150669 | SUCLA2 | c.269A>G (p.Lys90Arg) c.443A>G (p.Lys148Arg) c.*236A>G (n.*236A>G) c.90+12548A>G (n.90+12548A>G) c.233A>G (p.Lys78Arg) c.537A>G (n.537A>G) c.206A>G (p.Lys69Arg) c.41A>G (p.Lys14Arg) n.487A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47988632T>G | CA388150666 | SUCLA2 | c.269A>C (p.Lys90Thr) c.443A>C (p.Lys148Thr) c.*236A>C (n.*236A>C) c.90+12548A>C (n.90+12548A>C) c.233A>C (p.Lys78Thr) c.537A>C (n.537A>C) c.206A>C (p.Lys69Thr) c.41A>C (p.Lys14Thr) n.487A>C | |
| 13 | g.47988632T= | CA2089813796 | SUCLA2 | c.269A= (p.Lys90=) c.443A= (p.Lys148=) c.*236A= (n.*236A=) c.90+12548A= (n.90+12548A=) c.233A= (p.Lys78=) c.537A= (n.537A=) c.206A= (p.Lys69=) c.41A= (p.Lys14=) n.487A= | |
| 13 | g.47988633T>A | CA388150671 | SUCLA2 | c.268A>T (p.Lys90Ter) c.442A>T (p.Lys148Ter) c.*235A>T (n.*235A>T) c.90+12547A>T (n.90+12547A>T) c.232A>T (p.Lys78Ter) c.536A>T (n.536A>T) c.205A>T (p.Lys69Ter) c.40A>T (p.Lys14Ter) n.486A>T | |
| 13 | g.47988633T>C | CA6978000 | SUCLA2 | c.268A>G (p.Lys90Glu) c.442A>G (p.Lys148Glu) c.*235A>G (n.*235A>G) c.90+12547A>G (n.90+12547A>G) c.232A>G (p.Lys78Glu) c.536A>G (n.536A>G) c.205A>G (p.Lys69Glu) c.40A>G (p.Lys14Glu) n.486A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.47988633T>G | CA388150672 | SUCLA2 | c.268A>C (p.Lys90Gln) c.442A>C (p.Lys148Gln) c.*235A>C (n.*235A>C) c.90+12547A>C (n.90+12547A>C) c.232A>C (p.Lys78Gln) c.536A>C (n.536A>C) c.205A>C (p.Lys69Gln) c.40A>C (p.Lys14Gln) n.486A>C | |
| 13 | g.47988633T= | CA2089813797 | SUCLA2 | c.268A= (p.Lys90=) c.442A= (p.Lys148=) c.*235A= (n.*235A=) c.90+12547A= (n.90+12547A=) c.232A= (p.Lys78=) c.536A= (n.536A=) c.205A= (p.Lys69=) c.40A= (p.Lys14=) n.486A= | |
| 13 | g.47988634T>A | CA388150674 | SUCLA2 | c.267A>T (p.Glu89Asp) c.441A>T (p.Glu147Asp) c.*234A>T (n.*234A>T) c.90+12546A>T (n.90+12546A>T) c.231A>T (p.Glu77Asp) c.535A>T (n.535A>T) c.204A>T (p.Glu68Asp) c.39A>T (p.Glu13Asp) n.485A>T | |
| 13 | g.47988634T>C | CA483555544 | SUCLA2 | c.267A>G (p.Glu89=) c.441A>G (p.Glu147=) c.*234A>G (n.*234A>G) c.90+12546A>G (n.90+12546A>G) c.231A>G (p.Glu77=) c.535A>G (n.535A>G) c.204A>G (p.Glu68=) c.39A>G (p.Glu13=) n.485A>G | |
| 13 | g.47988634T>G | CA388150676 | SUCLA2 | c.267A>C (p.Glu89Asp) c.441A>C (p.Glu147Asp) c.*234A>C (n.*234A>C) c.90+12546A>C (n.90+12546A>C) c.231A>C (p.Glu77Asp) c.535A>C (n.535A>C) c.204A>C (p.Glu68Asp) c.39A>C (p.Glu13Asp) n.485A>C | |
| 13 | g.47988635T>A | CA388150681 | SUCLA2 | c.266A>T (p.Glu89Val) c.440A>T (p.Glu147Val) c.*233A>T (n.*233A>T) c.90+12545A>T (n.90+12545A>T) c.230A>T (p.Glu77Val) c.534A>T (n.534A>T) c.203A>T (p.Glu68Val) c.38A>T (p.Glu13Val) n.484A>T | |
| 13 | g.47988635T>C | CA388150679 | SUCLA2 | c.266A>G (p.Glu89Gly) c.440A>G (p.Glu147Gly) c.*233A>G (n.*233A>G) c.90+12545A>G (n.90+12545A>G) c.230A>G (p.Glu77Gly) c.534A>G (n.534A>G) c.203A>G (p.Glu68Gly) c.38A>G (p.Glu13Gly) n.484A>G | |
| 13 | g.47988635T>G | CA388150678 | SUCLA2 | c.266A>C (p.Glu89Ala) c.440A>C (p.Glu147Ala) c.*233A>C (n.*233A>C) c.90+12545A>C (n.90+12545A>C) c.230A>C (p.Glu77Ala) c.534A>C (n.534A>C) c.203A>C (p.Glu68Ala) c.38A>C (p.Glu13Ala) n.484A>C | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47988635T= | CA2089813798 | SUCLA2 | c.266A= (p.Glu89=) c.440A= (p.Glu147=) c.*233A= (n.*233A=) c.90+12545A= (n.90+12545A=) c.230A= (p.Glu77=) c.534A= (n.534A=) c.203A= (p.Glu68=) c.38A= (p.Glu13=) n.484A= | |
| 13 | g.47988636C>A | CA388150683 | SUCLA2 | c.265G>T (p.Glu89Ter) c.439G>T (p.Glu147Ter) c.*232G>T (n.*232G>T) c.90+12544G>T (n.90+12544G>T) c.229G>T (p.Glu77Ter) c.533G>T (n.533G>T) c.202G>T (p.Glu68Ter) c.37G>T (p.Glu13Ter) n.483G>T | |
| 13 | g.47988636C>G | CA388150685 | SUCLA2 | c.265G>C (p.Glu89Gln) c.439G>C (p.Glu147Gln) c.*232G>C (n.*232G>C) c.90+12544G>C (n.90+12544G>C) c.229G>C (p.Glu77Gln) c.533G>C (n.533G>C) c.202G>C (p.Glu68Gln) c.37G>C (p.Glu13Gln) n.483G>C | |
| 13 | g.47988636C>T | CA388150686 | SUCLA2 | c.265G>A (p.Glu89Lys) c.439G>A (p.Glu147Lys) c.*232G>A (n.*232G>A) c.90+12544G>A (n.90+12544G>A) c.229G>A (p.Glu77Lys) c.533G>A (n.533G>A) c.202G>A (p.Glu68Lys) c.37G>A (p.Glu13Lys) n.483G>A | |
| 13 | g.47988637T>A | CA483555545 | SUCLA2 | c.264A>T (p.Gly88=) c.438A>T (p.Gly146=) c.*231A>T (n.*231A>T) c.90+12543A>T (n.90+12543A>T) c.228A>T (p.Gly76=) c.532A>T (n.532A>T) c.201A>T (p.Gly67=) c.36A>T (p.Gly12=) n.482A>T | |
| 13 | g.47988637T>C | CA483555547 | SUCLA2 | c.264A>G (p.Gly88=) c.438A>G (p.Gly146=) c.*231A>G (n.*231A>G) c.90+12543A>G (n.90+12543A>G) c.228A>G (p.Gly76=) c.532A>G (n.532A>G) c.201A>G (p.Gly67=) c.36A>G (p.Gly12=) n.482A>G | |
| 13 | g.47988637T>G | CA483555546 | SUCLA2 | c.264A>C (p.Gly88=) c.438A>C (p.Gly146=) c.*231A>C (n.*231A>C) c.90+12543A>C (n.90+12543A>C) c.228A>C (p.Gly76=) c.532A>C (n.532A>C) c.201A>C (p.Gly67=) c.36A>C (p.Gly12=) n.482A>C | |
| 13 | g.47988638C>A | CA388150688 | SUCLA2 | c.263G>T (p.Gly88Val) c.437G>T (p.Gly146Val) c.*230G>T (n.*230G>T) c.90+12542G>T (n.90+12542G>T) c.227G>T (p.Gly76Val) c.531G>T (n.531G>T) c.200G>T (p.Gly67Val) c.35G>T (p.Gly12Val) n.481G>T | |
| 13 | g.47988638C>G | CA388150689 | SUCLA2 | c.263G>C (p.Gly88Ala) c.437G>C (p.Gly146Ala) c.*230G>C (n.*230G>C) c.90+12542G>C (n.90+12542G>C) c.227G>C (p.Gly76Ala) c.531G>C (n.531G>C) c.200G>C (p.Gly67Ala) c.35G>C (p.Gly12Ala) n.481G>C | ClinVar dbSNP |
| 13 | g.47988638C>T | CA388150691 | SUCLA2 | c.263G>A (p.Gly88Glu) c.437G>A (p.Gly146Glu) c.*230G>A (n.*230G>A) c.90+12542G>A (n.90+12542G>A) c.227G>A (p.Gly76Glu) c.531G>A (n.531G>A) c.200G>A (p.Gly67Glu) c.35G>A (p.Gly12Glu) n.481G>A | ClinVar |
| 13 | g.47988639C>A | CA388150696 | SUCLA2 | c.262G>T (p.Gly88Ter) c.436G>T (p.Gly146Ter) c.*229G>T (n.*229G>T) c.90+12541G>T (n.90+12541G>T) c.226G>T (p.Gly76Ter) c.530G>T (n.530G>T) c.199G>T (p.Gly67Ter) c.34G>T (p.Gly12Ter) n.480G>T | |
| 13 | g.47988639C>G | CA388150693 | SUCLA2 | c.262G>C (p.Gly88Arg) c.436G>C (p.Gly146Arg) c.*229G>C (n.*229G>C) c.90+12541G>C (n.90+12541G>C) c.226G>C (p.Gly76Arg) c.530G>C (n.530G>C) c.199G>C (p.Gly67Arg) c.34G>C (p.Gly12Arg) n.480G>C | |
| 13 | g.47988639C>T | CA388150694 | SUCLA2 | c.262G>A (p.Gly88Arg) c.436G>A (p.Gly146Arg) c.*229G>A (n.*229G>A) c.90+12541G>A (n.90+12541G>A) c.226G>A (p.Gly76Arg) c.530G>A (n.530G>A) c.199G>A (p.Gly67Arg) c.34G>A (p.Gly12Arg) n.480G>A | |
| 13 | g.47988640C>A | CA483555548 | SUCLA2 | c.261G>T (p.Thr87=) c.435G>T (p.Thr145=) c.*228G>T (n.*228G>T) c.90+12540G>T (n.90+12540G>T) c.225G>T (p.Thr75=) c.529G>T (n.529G>T) c.198G>T (p.Thr66=) c.33G>T (p.Thr11=) n.479G>T | |
| 13 | g.47988640C= | CA2089813799 | SUCLA2 | c.261G= (p.Thr87=) c.435G= (p.Thr145=) c.*228G= (n.*228G=) c.90+12540G= (n.90+12540G=) c.225G= (p.Thr75=) c.529G= (n.529G=) c.198G= (p.Thr66=) c.33G= (p.Thr11=) n.479G= | |
| 13 | g.47988640C>G | CA483555549 | SUCLA2 | c.261G>C (p.Thr87=) c.435G>C (p.Thr145=) c.*228G>C (n.*228G>C) c.90+12540G>C (n.90+12540G>C) c.225G>C (p.Thr75=) c.529G>C (n.529G>C) c.198G>C (p.Thr66=) c.33G>C (p.Thr11=) n.479G>C | |
| 13 | g.47988640C>T | CA6978001 | SUCLA2 | c.261G>A (p.Thr87=) c.435G>A (p.Thr145=) c.*228G>A (n.*228G>A) c.90+12540G>A (n.90+12540G>A) c.225G>A (p.Thr75=) c.529G>A (n.529G>A) c.198G>A (p.Thr66=) c.33G>A (p.Thr11=) n.479G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |