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 |
|---|---|---|---|---|---|
| 7 | g.24719099T>A | CA367048240 | GSDME | c.524A>T (p.Gln175Leu) c.32A>T (p.Gln11Leu) n.293A>T n.219A>T c.293A>T (p.Gln98Leu) n.543A>T | |
| 7 | g.24719099T>C | CA367048238 | GSDME | c.524A>G (p.Gln175Arg) c.32A>G (p.Gln11Arg) n.293A>G n.219A>G c.293A>G (p.Gln98Arg) n.543A>G | |
| 7 | g.24719099T>G | CA367048239 | GSDME | c.524A>C (p.Gln175Pro) c.32A>C (p.Gln11Pro) n.293A>C n.219A>C c.293A>C (p.Gln98Pro) n.543A>C | |
| 7 | g.24719100G>A | CA367048241 | GSDME | c.523C>T (p.Gln175Ter) c.31C>T (p.Gln11Ter) n.292C>T n.218C>T c.292C>T (p.Gln98Ter) n.542C>T | |
| 7 | g.24719100G>C | CA367048242 | GSDME | c.523C>G (p.Gln175Glu) c.31C>G (p.Gln11Glu) n.292C>G n.218C>G c.292C>G (p.Gln98Glu) n.542C>G | |
| 7 | g.24719100G>T | CA367048243 | GSDME | c.523C>A (p.Gln175Lys) c.31C>A (p.Gln11Lys) n.292C>A n.218C>A c.292C>A (p.Gln98Lys) n.542C>A | |
| 7 | g.24719101C>A | CA367048244 | GSDME | c.522G>T (p.Met174Ile) c.30G>T (p.Met10Ile) n.291G>T n.217G>T c.291G>T (p.Met97Ile) n.541G>T | |
| 7 | g.24719101C>G | CA367048245 | GSDME | c.522G>C (p.Met174Ile) c.30G>C (p.Met10Ile) n.291G>C n.217G>C c.291G>C (p.Met97Ile) n.541G>C | gnomAD v4 |
| 7 | g.24719101C>T | CA367048246 | GSDME | c.522G>A (p.Met174Ile) c.30G>A (p.Met10Ile) n.291G>A n.217G>A c.291G>A (p.Met97Ile) n.541G>A | |
| 7 | g.24719102A= | CA1695071627 | GSDME | c.521T= (p.Met174=) c.29T= (p.Met10=) n.290T= n.216T= c.290T= (p.Met97=) n.540T= | |
| 7 | g.24719102A>C | CA367048247 | GSDME | c.521T>G (p.Met174Arg) c.29T>G (p.Met10Arg) n.290T>G n.216T>G c.290T>G (p.Met97Arg) n.540T>G | |
| 7 | g.24719102A>G | CA4191714 | GSDME | c.521T>C (p.Met174Thr) c.29T>C (p.Met10Thr) n.290T>C n.216T>C c.290T>C (p.Met97Thr) n.540T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.24719102A>T | CA367048248 | GSDME | c.521T>A (p.Met174Lys) c.29T>A (p.Met10Lys) n.290T>A n.216T>A c.290T>A (p.Met97Lys) n.540T>A | |
| 7 | g.24719103T>A | CA367048249 | GSDME | c.520A>T (p.Met174Leu) c.28A>T (p.Met10Leu) n.289A>T n.215A>T c.289A>T (p.Met97Leu) n.539A>T | |
| 7 | g.24719103T>C | CA4191715 | GSDME | c.520A>G (p.Met174Val) c.28A>G (p.Met10Val) n.289A>G n.215A>G c.289A>G (p.Met97Val) n.539A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.24719103T>G | CA367048250 | GSDME | c.520A>C (p.Met174Leu) c.28A>C (p.Met10Leu) n.289A>C n.215A>C c.289A>C (p.Met97Leu) n.539A>C | |
| 7 | g.24719103T= | CA1695071636 | GSDME | c.520A= (p.Met174=) c.28A= (p.Met10=) n.289A= n.215A= c.289A= (p.Met97=) n.539A= | |
| 7 | g.24719104G>A | CA454021417 | GSDME | c.519C>T (p.His173=) c.27C>T (p.His9=) n.288C>T n.214C>T c.288C>T (p.His96=) n.538C>T | |
| 7 | g.24719104G>C | CA367048251 | GSDME | c.519C>G (p.His173Gln) c.27C>G (p.His9Gln) n.288C>G n.214C>G c.288C>G (p.His96Gln) n.538C>G | |
| 7 | g.24719104G>T | CA367048252 | GSDME | c.519C>A (p.His173Gln) c.27C>A (p.His9Gln) n.288C>A n.214C>A c.288C>A (p.His96Gln) n.538C>A | |
| 7 | g.24719105T>A | CA367048253 | GSDME | c.518A>T (p.His173Leu) c.26A>T (p.His9Leu) n.287A>T n.213A>T c.287A>T (p.His96Leu) n.537A>T | |
| 7 | g.24719105T>C | CA367048254 | GSDME | c.518A>G (p.His173Arg) c.26A>G (p.His9Arg) n.287A>G n.213A>G c.287A>G (p.His96Arg) n.537A>G | |
| 7 | g.24719105T>G | CA367048255 | GSDME | c.518A>C (p.His173Pro) c.26A>C (p.His9Pro) n.287A>C n.213A>C c.287A>C (p.His96Pro) n.537A>C | |
| 7 | g.24719106G>A | CA4191716 | GSDME | c.517C>T (p.His173Tyr) c.25C>T (p.His9Tyr) n.286C>T n.212C>T c.286C>T (p.His96Tyr) n.536C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.24719106G>C | CA367048256 | GSDME | c.517C>G (p.His173Asp) c.25C>G (p.His9Asp) n.286C>G n.212C>G c.286C>G (p.His96Asp) n.536C>G | |
| 7 | g.24719106G= | CA1695071638 | GSDME | c.517C= (p.His173=) c.25C= (p.His9=) n.286C= n.212C= c.286C= (p.His96=) n.536C= | |
| 7 | g.24719106G>T | CA367048257 | GSDME | c.517C>A (p.His173Asn) c.25C>A (p.His9Asn) n.286C>A n.212C>A c.286C>A (p.His96Asn) n.536C>A | |
| 7 | g.24719107C>A | CA367048258 | GSDME | c.516G>T (p.Glu172Asp) c.24G>T (p.Glu8Asp) n.285G>T n.211G>T c.285G>T (p.Glu95Asp) n.535G>T | |
| 7 | g.24719107C= | CA1695071642 | GSDME | c.516G= (p.Glu172=) c.24G= (p.Glu8=) n.285G= n.211G= c.285G= (p.Glu95=) n.535G= | |
| 7 | g.24719107C>G | CA367048259 | GSDME | c.516G>C (p.Glu172Asp) c.24G>C (p.Glu8Asp) n.285G>C n.211G>C c.285G>C (p.Glu95Asp) n.535G>C | |
| 7 | g.24719107C>T | CA454021418 | GSDME | c.516G>A (p.Glu172=) c.24G>A (p.Glu8=) n.285G>A n.211G>A c.285G>A (p.Glu95=) n.535G>A | COSMIC |
| 7 | g.24719108T>A | CA367048260 | GSDME | c.515A>T (p.Glu172Val) c.23A>T (p.Glu8Val) n.284A>T n.210A>T c.284A>T (p.Glu95Val) n.534A>T | |
| 7 | g.24719108T>C | CA367048261 | GSDME | c.515A>G (p.Glu172Gly) c.23A>G (p.Glu8Gly) n.284A>G n.210A>G c.284A>G (p.Glu95Gly) n.534A>G | gnomAD v4 |
| 7 | g.24719108T>G | CA367048262 | GSDME | c.515A>C (p.Glu172Ala) c.23A>C (p.Glu8Ala) n.284A>C n.210A>C c.284A>C (p.Glu95Ala) n.534A>C | |
| 7 | g.24719110_24719131dup | CA4191717 | GSDME | c.494_515dup (p.Glu172AspfsTer8) c.2_23dup (p.Glu8AspfsTer8) n.263_284dup n.189_210dup c.263_284dup (p.Glu95AspfsTer8) n.513_534dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.24719109C>A | CA367048265 | GSDME | c.514G>T (p.Glu172Ter) c.22G>T (p.Glu8Ter) n.283G>T n.209G>T c.283G>T (p.Glu95Ter) n.533G>T | |
| 7 | g.24719109C= | CA1695071652 | GSDME | c.514G= (p.Glu172=) c.22G= (p.Glu8=) n.283G= n.209G= c.283G= (p.Glu95=) n.533G= | |
| 7 | g.24719109C>G | CA367048264 | GSDME | c.514G>C (p.Glu172Gln) c.22G>C (p.Glu8Gln) n.283G>C n.209G>C c.283G>C (p.Glu95Gln) n.533G>C | |
| 7 | g.24719109C>T | CA367048263 | GSDME | c.514G>A (p.Glu172Lys) c.22G>A (p.Glu8Lys) n.283G>A n.209G>A c.283G>A (p.Glu95Lys) n.533G>A | dbSNP gnomAD v4 |
| 7 | g.24719110A>C | CA454021420 | GSDME | c.513T>G (p.Ser171=) c.21T>G (p.Ser7=) n.282T>G n.208T>G c.282T>G (p.Ser94=) n.532T>G | |
| 7 | g.24719110A>G | CA454021421 | GSDME | c.513T>C (p.Ser171=) c.21T>C (p.Ser7=) n.282T>C n.208T>C c.282T>C (p.Ser94=) n.532T>C | |
| 7 | g.24719110A>T | CA454021422 | GSDME | c.513T>A (p.Ser171=) c.21T>A (p.Ser7=) n.282T>A n.208T>A c.282T>A (p.Ser94=) n.532T>A | |
| 7 | g.24719110_24719111delinsAG | CA1695071657 | GSDME | c.512_513delinsCT (p.Ser171=) c.20_21delinsCT (p.Ser7=) n.281_282delinsCT n.207_208delinsCT c.281_282delinsCT (p.Ser94=) n.531_532delinsCT | |
| 7 | g.24719111del | CA1099434500 | GSDME | c.512del (p.Ser171LeufsTer?) c.20del (p.Ser7LeufsTer?) n.281del n.207del c.281del (p.Ser94LeufsTer?) n.531del | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.24719111G>A | CA367048266 | GSDME | c.512C>T (p.Ser171Phe) c.20C>T (p.Ser7Phe) n.281C>T n.207C>T c.281C>T (p.Ser94Phe) n.531C>T | |
| 7 | g.24719111G>C | CA367048267 | GSDME | c.512C>G (p.Ser171Cys) c.20C>G (p.Ser7Cys) n.281C>G n.207C>G c.281C>G (p.Ser94Cys) n.531C>G | gnomAD v4 |
| 7 | g.24719111G>T | CA367048268 | GSDME | c.512C>A (p.Ser171Tyr) c.20C>A (p.Ser7Tyr) n.281C>A n.207C>A c.281C>A (p.Ser94Tyr) n.531C>A | |
| 7 | g.24719112A>C | CA367048269 | GSDME | c.511T>G (p.Ser171Ala) c.19T>G (p.Ser7Ala) n.280T>G n.206T>G c.280T>G (p.Ser94Ala) n.530T>G | |
| 7 | g.24719112A>G | CA367048270 | GSDME | c.511T>C (p.Ser171Pro) c.19T>C (p.Ser7Pro) n.280T>C n.206T>C c.280T>C (p.Ser94Pro) n.530T>C | |
| 7 | g.24719112A>T | CA367048271 | GSDME | c.511T>A (p.Ser171Thr) c.19T>A (p.Ser7Thr) n.280T>A n.206T>A c.280T>A (p.Ser94Thr) n.530T>A |