| 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.101424877T>A | CA374264238 | ALDOB | c.965A>T (p.Glu322Val) c.928A>T (p.Arg310Trp) | |
| 9 | g.101424877T>C | CA374264240 | ALDOB | c.965A>G (p.Glu322Gly) c.928A>G (p.Arg310Gly) | |
| 9 | g.101424877T>G | CA374264239 | ALDOB | c.965A>C (p.Glu322Ala) c.928A>C (p.Arg310=) | |
| 9 | g.101424878C>A | CA374264241 | ALDOB | c.964G>T (p.Glu322Ter) c.927G>T (p.Arg309Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101424878C= | CA1868278449 | ALDOB | c.964G= (p.Glu322=) c.927G= (p.Arg309=) | |
| 9 | g.101424878C>G | CA374264242 | ALDOB | c.964G>C (p.Glu322Gln) c.927G>C (p.Arg309Ser) | |
| 9 | g.101424878C>T | CA374264243 | ALDOB | c.964G>A (p.Glu322Lys) c.927G>A (p.Arg309=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101424879C>A | CA374264244 | ALDOB | c.963G>T (p.Lys321Asn) c.926G>T (p.Arg309Met) | gnomAD v4 |
| 9 | g.101424879C>G | CA374264245 | ALDOB | c.963G>C (p.Lys321Asn) c.926G>C (p.Arg309Thr) | gnomAD v4 |
| 9 | g.101424879C>T | CA374264246 | ALDOB | c.963G>A (p.Lys321=) c.926G>A (p.Arg309Lys) | gnomAD v4 |
| 9 | g.101424880T>A | CA374264247 | ALDOB | c.962A>T (p.Lys321Met) c.925A>T (p.Arg309Trp) | |
| 9 | g.101424880T>C | CA374264248 | ALDOB | c.962A>G (p.Lys321Arg) c.925A>G (p.Arg309Gly) | |
| 9 | g.101424880T>G | CA374264249 | ALDOB | c.962A>C (p.Lys321Thr) c.925A>C (p.Arg309=) | |
| 9 | g.101424881T>A | CA374264251 | ALDOB | c.961A>T (p.Lys321Ter) c.924A>T (p.Thr308=) | |
| 9 | g.101424881T>C | CA374264252 | ALDOB | c.961A>G (p.Lys321Glu) c.924A>G (p.Thr308=) | gnomAD v4 |
| 9 | g.101424881T>G | CA374264250 | ALDOB | c.961A>C (p.Lys321Gln) c.924A>C (p.Thr308=) | |
| 9 | g.101424882G>A | CA196956585 | ALDOB | c.960C>T (p.Asn320=) c.923C>T (p.Thr308Ile) | dbSNP |
| 9 | g.101424882G>C | CA374264253 | ALDOB | c.960C>G (p.Asn320Lys) c.923C>G (p.Thr308Arg) | |
| 9 | g.101424882G= | CA1868278452 | ALDOB | c.960C= (p.Asn320=) c.923C= (p.Thr308=) | |
| 9 | g.101424882G>T | CA5161424 | ALDOB | c.960C>A (p.Asn320Lys) c.923C>A (p.Thr308Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101424883T>A | CA374264254 | ALDOB | c.959A>T (p.Asn320Ile) c.922A>T (p.Thr308Ser) | |
| 9 | g.101424883T>C | CA374264255 | ALDOB | c.959A>G (p.Asn320Ser) c.922A>G (p.Thr308Ala) | |
| 9 | g.101424883T>G | CA374264256 | ALDOB | c.959A>C (p.Asn320Thr) c.922A>C (p.Thr308Pro) | |
| 9 | g.101424884T>A | CA374264257 | ALDOB | c.958A>T (p.Asn320Tyr) c.921A>T (p.Gln307His) | |
| 9 | g.101424884T>C | CA374264258 | ALDOB | c.958A>G (p.Asn320Asp) c.921A>G (p.Gln307=) | |
| 9 | g.101424884T>G | CA374264259 | ALDOB | c.958A>C (p.Asn320His) c.921A>C (p.Gln307His) | |
| 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) |