Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101424850_101424891del | CA2499219512 | ALDOB | c.954_995del (p.Ala319_Ala332del) c.917_*7del (n.[c.917_*7del;Leu306ProfsTer?]) | ClinVar dbSNP |
9 | g.101424885T>A | CA374264260 | ALDOB | c.957A>T (p.Ala319=) c.920A>T (p.Gln307Leu) | |
9 | g.101424885T>C | CA374264261 | ALDOB | c.957A>G (p.Ala319=) c.920A>G (p.Gln307Arg) | |
9 | g.101424885T>G | CA374264262 | ALDOB | c.957A>C (p.Ala319=) c.920A>C (p.Gln307Pro) | |
9 | g.101424886G>A | CA5161425 | ALDOB | c.956C>T (p.Ala319Val) c.919C>T (p.Gln307Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424886G>C | CA374264263 | ALDOB | c.956C>G (p.Ala319Gly) c.919C>G (p.Gln307Glu) | |
9 | g.101424886G= | CA1868278460 | ALDOB | c.956C= (p.Ala319=) c.919C= (p.Gln307=) | |
9 | g.101424886G>T | CA374264264 | ALDOB | c.956C>A (p.Ala319Glu) c.919C>A (p.Gln307Lys) | |
9 | g.101424887C>A | CA374264265 | ALDOB | c.955G>T (p.Ala319Ser) c.918G>T (p.Leu306=) | COSMIC |
9 | g.101424887C= | CA1868278462 | ALDOB | c.955G= (p.Ala319=) c.918G= (p.Leu306=) | |
9 | g.101424887C>G | CA374264266 | ALDOB | c.955G>C (p.Ala319Pro) c.918G>C (p.Leu306=) | |
9 | g.101424887C>T | CA374264267 | ALDOB | c.955G>A (p.Ala319Thr) c.918G>A (p.Leu306=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101424888A= | CA1868278467 | ALDOB | c.954T= (p.Ala318=) c.917T= (p.Leu306=) | |
9 | g.101424888A>C | CA374264268 | ALDOB | c.954T>G (p.Ala318=) c.917T>G (p.Leu306Arg) | |
9 | g.101424888A>G | CA5161426 | ALDOB | c.954T>C (p.Ala318=) c.917T>C (p.Leu306Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424888A>T | CA374264269 | ALDOB | c.954T>A (p.Ala318=) c.917T>A (p.Leu306Gln) | |
9 | g.101424889G>A | CA374264270 | ALDOB | c.953C>T (p.Ala318Val) c.916C>T (p.Leu306=) | gnomAD v4 |
9 | g.101424889G>C | CA374264271 | ALDOB | c.953C>G (p.Ala318Gly) c.916C>G (p.Leu306Val) | |
9 | g.101424889G>T | CA374264272 | ALDOB | c.953C>A (p.Ala318Asp) c.916C>A (p.Leu306Met) | gnomAD v4 |
9 | g.101424890C>A | CA374264273 | ALDOB | c.952G>T (p.Ala318Ser) c.915G>T (p.Arg305Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424890C= | CA1868278474 | ALDOB | c.952G= (p.Ala318=) c.915G= (p.Arg305=) | |
9 | g.101424890C>G | CA374264274 | ALDOB | c.952G>C (p.Ala318Pro) c.915G>C (p.Arg305Ser) | |
9 | g.101424890C>T | CA374264275 | ALDOB | c.952G>A (p.Ala318Thr) c.915G>A (p.Arg305=) | |
9 | g.101424891C>A | CA374264277 | ALDOB | c.951G>T (p.Lys317Asn) c.914G>T (p.Arg305Met) | |
9 | g.101424891C= | CA1868278480 | ALDOB | c.951G= (p.Lys317=) c.914G= (p.Arg305=) | |
9 | g.101424891C>G | CA374264276 | ALDOB | c.951G>C (p.Lys317Asn) c.914G>C (p.Arg305Thr) | |
9 | g.101424891C>T | CA196956588 | ALDOB | c.951G>A (p.Lys317=) c.914G>A (p.Arg305Lys) | dbSNP gnomAD v4 |
9 | g.101424892T>A | CA374264278 | ALDOB | c.950A>T (p.Lys317Met) c.913A>T (p.Arg305Trp) | |
9 | g.101424892T>C | CA374264279 | ALDOB | c.950A>G (p.Lys317Arg) c.913A>G (p.Arg305Gly) | |
9 | g.101424892T>G | CA374264280 | ALDOB | c.950A>C (p.Lys317Thr) c.913A>C (p.Arg305=) | gnomAD v4 |
9 | g.101424893T>A | CA374264281 | ALDOB | c.949A>T (p.Lys317Ter) c.912A>T (p.Ala304=) | |
9 | g.101424893T>C | CA374264282 | ALDOB | c.949A>G (p.Lys317Glu) c.912A>G (p.Ala304=) | gnomAD v4 |
9 | g.101424893T>G | CA374264283 | ALDOB | c.949A>C (p.Lys317Gln) c.912A>C (p.Ala304=) | |
9 | g.101424916_101424917insGGGCCCTGTGCCACCCCAGGCAGCCAGTGCAC | CA2499219513 | ALDOB | c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317ThrfsTer24) c.912_913insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA | ClinVar gnomAD v4 |
9 | g.101424894G>A | CA374264286 | ALDOB | c.948C>T (p.Gly316=) c.911C>T (p.Ala304Val) | COSMIC |
9 | g.101424894G>C | CA374264285 | ALDOB | c.948C>G (p.Gly316=) c.911C>G (p.Ala304Gly) | |
9 | g.101424894G>T | CA374264284 | ALDOB | c.948C>A (p.Gly316=) c.911C>A (p.Ala304Glu) | ClinVar dbSNP |
9 | g.101424895C>A | CA374264287 | ALDOB | c.947G>T (p.Gly316Val) c.910G>T (p.Ala304Ser) | ClinVar gnomAD v4 |
9 | g.101424895C= | CA1868278483 | ALDOB | c.947G= (p.Gly316=) c.910G= (p.Ala304=) | |
9 | g.101424895C>G | CA374264288 | ALDOB | c.947G>C (p.Gly316Ala) c.910G>C (p.Ala304Pro) | |
9 | g.101424895C>T | CA374264289 | ALDOB | c.947G>A (p.Gly316Asp) c.910G>A (p.Ala304Thr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101424896del | CA2691006761 | ALDOB | c.947del (p.Gly316AlafsTer14) c.910del (p.Ala304GlnfsTer19) | gnomAD v4 |
9 | g.101424896C>A | CA374264290 | ALDOB | c.946G>T (p.Gly316Cys) c.909G>T (p.Val303=) | |
9 | g.101424896C>G | CA374264291 | ALDOB | c.946G>C (p.Gly316Arg) c.909G>C (p.Val303=) | |
9 | g.101424896C>T | CA374264292 | ALDOB | c.946G>A (p.Gly316Ser) c.909G>A (p.Val303=) | |
9 | g.101424897A= | CA1868278486 | ALDOB | c.945T= (p.Gly315=) c.908T= (p.Val303=) | |
9 | g.101424897A>C | CA374264293 | ALDOB | c.945T>G (p.Gly315=) c.908T>G (p.Val303Gly) | dbSNP gnomAD v2 |
9 | g.101424897A>G | CA5161427 | ALDOB | c.945T>C (p.Gly315=) c.908T>C (p.Val303Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101424897A>T | CA374264294 | ALDOB | c.945T>A (p.Gly315=) c.908T>A (p.Val303Glu) | |
9 | g.101424898C>A | CA374264295 | ALDOB | c.944G>T (p.Gly315Val) c.907G>T (p.Val303Leu) |