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 |
|---|---|---|---|---|---|
| 9 | g.101424850_101424891del | CA2499219512 | ALDOB | c.954_995del (p.Ala319_Ala332del) c.917_*7del (n.[c.917_*7del;Leu306ProfsTer?]) | ClinVar dbSNP |
| 9 | g.101424872T>A | CA374264225 | ALDOB | c.970A>T (p.Thr324Ser) c.933A>T (p.Gln311His) | |
| 9 | g.101424872T>C | CA374264227 | ALDOB | c.970A>G (p.Thr324Ala) c.933A>G (p.Gln311=) | |
| 9 | g.101424872T>G | CA374264226 | ALDOB | c.970A>C (p.Thr324Pro) c.933A>C (p.Gln311His) | |
| 9 | g.101424873T>A | CA374264228 | ALDOB | c.969A>T (p.Ala323=) c.932A>T (p.Gln311Leu) | |
| 9 | g.101424873T>C | CA374264229 | ALDOB | c.969A>G (p.Ala323=) c.932A>G (p.Gln311Arg) | |
| 9 | g.101424873T>G | CA374264230 | ALDOB | c.969A>C (p.Ala323=) c.932A>C (p.Gln311Pro) | dbSNP |
| 9 | g.101424873T= | CA1868278430 | ALDOB | c.969A= (p.Ala323=) c.932A= (p.Gln311=) | |
| 9 | g.101424874G>A | CA5161422 | ALDOB | c.968C>T (p.Ala323Val) c.931C>T (p.Gln311Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101424874G>C | CA374264231 | ALDOB | c.968C>G (p.Ala323Gly) c.931C>G (p.Gln311Glu) | |
| 9 | g.101424874G= | CA1868278433 | ALDOB | c.968C= (p.Ala323=) c.931C= (p.Gln311=) | |
| 9 | g.101424874G>T | CA374264232 | ALDOB | c.968C>A (p.Ala323Glu) c.931C>A (p.Gln311Lys) | gnomAD v4 |
| 9 | g.101424875C>A | CA374264233 | ALDOB | c.967G>T (p.Ala323Ser) c.930G>T (p.Arg310Ser) | |
| 9 | g.101424875C= | CA1868278435 | ALDOB | c.967G= (p.Ala323=) c.930G= (p.Arg310=) | |
| 9 | g.101424875C>G | CA374264234 | ALDOB | c.967G>C (p.Ala323Pro) c.930G>C (p.Arg310Ser) | |
| 9 | g.101424875C>T | CA374264235 | ALDOB | c.967G>A (p.Ala323Thr) c.930G>A (p.Arg310=) | dbSNP gnomAD v4 |
| 9 | g.101424876C>A | CA374264236 | ALDOB | c.966G>T (p.Glu322Asp) c.929G>T (p.Arg310Met) | |
| 9 | g.101424876C= | CA1868278439 | ALDOB | c.966G= (p.Glu322=) c.929G= (p.Arg310=) | |
| 9 | g.101424876C>G | CA374264237 | ALDOB | c.966G>C (p.Glu322Asp) c.929G>C (p.Arg310Thr) | |
| 9 | g.101424876C>T | CA5161423 | ALDOB | c.966G>A (p.Glu322=) c.929G>A (p.Arg310Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.101424882_101424883insACGGACGAGGCTGGGGTGGCCTTCGTCTGTCACGAGGAGGCGACGGATTCGCTCGGGGC | CA2785321923 | ALDOB | c.959_960insGCCCCGAGCGAATCCGTCGCCTCCTCGTGACAGACGAAGGCCACCCCAGCCTCGTCCGT (p.Asn320LysfsTer30) c.922_923insGCCCCGAGCGAATCCGTCGCCTCCTCGTGACAGACGAAGGCCACCCCAGCCTCGTCCGT (p.Thr308SerfsTer35) | |
| 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) | |
| 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) | |
| 9 | g.101424898C>G | CA374264296 | ALDOB | c.944G>C (p.Gly315Ala) c.907G>C (p.Val303Leu) | COSMIC |
| 9 | g.101424898C>T | CA374264297 | ALDOB | c.944G>A (p.Gly315Asp) c.907G>A (p.Val303Met) | gnomAD v4 |
| 9 | g.101424901dup | CA913142078 | ALDOB | c.944dup (p.Gly316TrpfsTer20) c.944dup (p.Gly316TrpfsTer?) c.907dup | |
| 9 | g.101424901del | CA2739291242 | ALDOB | c.944del (p.Gly315ValfsTer15) c.907del | |
| 9 | g.101424899C>A | CA5161428 | ALDOB | c.943G>T (p.Gly315Cys) c.906G>T (p.Trp302Cys) | dbSNP ExAC gnomAD v2 |
| 9 | g.101424899C= | CA1868278493 | ALDOB | c.943G= (p.Gly315=) c.906G= (p.Trp302=) | |
| 9 | g.101424899C>G | CA374264298 | ALDOB | c.943G>C (p.Gly315Arg) c.906G>C (p.Trp302Cys) | |
| 9 | g.101424899C>T | CA374264299 | ALDOB | c.943G>A (p.Gly315Ser) c.906G>A (p.Trp302Ter) | |
| 9 | g.101424900C>A | CA374264300 | ALDOB | c.942G>T (p.Trp314Cys) c.905G>T (p.Trp302Leu) | |
| 9 | g.101424900C>G | CA374264301 | ALDOB | c.942G>C (p.Trp314Cys) c.905G>C (p.Trp302Ser) | |
| 9 | g.101424900C>T | CA374264302 | ALDOB | c.942G>A (p.Trp314Ter) c.905G>A (p.Trp302Ter) | |
| 9 | g.101424901C>A | CA374264303 | ALDOB | c.941G>T (p.Trp314Leu) c.905-1G>T (n.905-1G>T) | |
| 9 | g.101424901C= | CA1868278500 | ALDOB | c.941G= (p.Trp314=) c.905-1G= (n.905-1G=) | |
| 9 | g.101424901C>G | CA374264304 | ALDOB | c.941G>C (p.Trp314Ser) c.905-1G>C (n.905-1G>C) | |
| 9 | g.101424901C>T | CA374264305 | ALDOB | c.941G>A (p.Trp314Ter) c.905-1G>A (n.905-1G>A) | ClinVar dbSNP |
| 9 | g.101424902A= | CA1868278507 | ALDOB | c.940T= (p.Trp314=) c.905-2T= (n.905-2T=) | |
| 9 | g.101424902A>C | CA374264308 | ALDOB | c.940T>G (p.Trp314Gly) c.905-2T>G (n.905-2T>G) | |
| 9 | g.101424902A>G | CA374264306 | ALDOB | c.940T>C (p.Trp314Arg) c.905-2T>C (n.905-2T>C) | dbSNP |
| 9 | g.101424902A>T | CA374264307 | ALDOB | c.940T>A (p.Trp314Arg) c.905-2T>A (n.905-2T>A) | |
| 9 | g.101424902dup | CA658821560 | ALDOB | c.940dup (p.Trp314LeufsTer22) c.940dup (p.Trp314LeufsTer?) c.905-2dup (n.905-2dup) | ClinVar dbSNP |
| 9 | g.101424903G>A | CA466461874 | ALDOB | c.939C>T (p.Ala313=) c.905-3C>T (n.905-3C>T) | gnomAD v3 gnomAD v4 |
| 9 | g.101424903G>C | CA466461875 | ALDOB | c.939C>G (p.Ala313=) c.905-3C>G (n.905-3C>G) | gnomAD v4 |
| 9 | g.101424903G>T | CA466461876 | ALDOB | c.939C>A (p.Ala313=) c.905-3C>A (n.905-3C>A) | |
| 9 | g.101424904G>A | CA374264309 | ALDOB | c.938C>T (p.Ala313Val) c.905-4C>T (n.905-4C>T) | |
| 9 | g.101424904G>C | CA374264310 | ALDOB | c.938C>G (p.Ala313Gly) c.905-4C>G (n.905-4C>G) | dbSNP gnomAD v2 |
| 9 | g.101424904G= | CA1868278513 | ALDOB | c.938C= (p.Ala313=) c.905-4C= (n.905-4C=) | |
| 9 | g.101424904G>T | CA374264311 | ALDOB | c.938C>A (p.Ala313Asp) c.905-4C>A (n.905-4C>A) | |
| 9 | g.101424905C>A | CA374264312 | ALDOB | c.937G>T (p.Ala313Ser) c.905-5G>T (n.905-5G>T) | gnomAD v4 |
| 9 | g.101424905C>G | CA374264313 | ALDOB | c.937G>C (p.Ala313Pro) c.905-5G>C (n.905-5G>C) | |
| 9 | g.101424905C>T | CA374264314 | ALDOB | c.937G>A (p.Ala313Thr) c.905-5G>A (n.905-5G>A) | |
| 9 | g.101424906A>C | CA466461877 | ALDOB | c.936T>G (p.Ala312=) c.905-6T>G (n.905-6T>G) | |
| 9 | g.101424906A>G | CA466461878 | ALDOB | c.936T>C (p.Ala312=) c.905-6T>C (n.905-6T>C) | |
| 9 | g.101424906A>T | CA466461879 | ALDOB | c.936T>A (p.Ala312=) c.905-6T>A (n.905-6T>A) | |
| 9 | g.101424907G>A | CA374264315 | ALDOB | c.935C>T (p.Ala312Val) c.905-7C>T (n.905-7C>T) | |
| 9 | g.101424907G>C | CA374264316 | ALDOB | c.935C>G (p.Ala312Gly) c.905-7C>G (n.905-7C>G) | |
| 9 | g.101424907G>T | CA374264317 | ALDOB | c.935C>A (p.Ala312Asp) c.905-7C>A (n.905-7C>A) | |
| 9 | g.101424908C>A | CA374264318 | ALDOB | c.934G>T (p.Ala312Ser) c.905-8G>T (n.905-8G>T) | |
| 9 | g.101424908C>G | CA374264319 | ALDOB | c.934G>C (p.Ala312Pro) c.905-8G>C (n.905-8G>C) | |
| 9 | g.101424908C>T | CA374264320 | ALDOB | c.934G>A (p.Ala312Thr) c.905-8G>A (n.905-8G>A) | ClinVar |
| 9 | g.101424909C>A | CA466461880 | ALDOB | c.933G>T (p.Leu311=) c.905-9G>T (n.905-9G>T) | ClinVar gnomAD v4 |
| 9 | g.101424909C= | CA1868278518 | ALDOB | c.933G= (p.Leu311=) c.905-9G= (n.905-9G=) | |
| 9 | g.101424909C>G | CA466461881 | ALDOB | c.933G>C (p.Leu311=) c.905-9G>C (n.905-9G>C) | gnomAD v4 |
| 9 | g.101424909C>T | CA5161429 | ALDOB | c.933G>A (p.Leu311=) c.905-9G>A (n.905-9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424910A>C | CA374264323 | ALDOB | c.932T>G (p.Leu311Arg) c.905-10T>G (n.905-10T>G) | |
| 9 | g.101424910A>G | CA374264322 | ALDOB | c.932T>C (p.Leu311Pro) c.905-10T>C (n.905-10T>C) | ClinVar dbSNP |
| 9 | g.101424910A>T | CA374264321 | ALDOB | c.932T>A (p.Leu311Gln) c.905-10T>A (n.905-10T>A) | |
| 9 | g.101424911G>A | CA466461882 | ALDOB | c.931C>T (p.Leu311=) c.905-11C>T (n.905-11C>T) | ClinVar dbSNP |
| 9 | g.101424911G>C | CA374264324 | ALDOB | c.931C>G (p.Leu311Val) c.905-11C>G (n.905-11C>G) | |
| 9 | g.101424911G= | CA1868278521 | ALDOB | c.931C= (p.Leu311=) c.905-11C= (n.905-11C=) | |
| 9 | g.101424911G>T | CA374264325 | ALDOB | c.931C>A (p.Leu311Met) c.905-11C>A (n.905-11C>A) | |
| 9 | g.101424912T>A | CA466461885 | ALDOB | c.930A>T (p.Ala310=) c.905-12A>T (n.905-12A>T) | |
| 9 | g.101424912T>C | CA466461884 | ALDOB | c.930A>G (p.Ala310=) c.905-12A>G (n.905-12A>G) | |
| 9 | g.101424912T>G | CA466461883 | ALDOB | c.930A>C (p.Ala310=) c.905-12A>C (n.905-12A>C) | gnomAD v4 |
| 9 | g.101424913G>A | CA374264326 | ALDOB | c.929C>T (p.Ala310Val) c.905-13C>T (n.905-13C>T) | gnomAD v4 |
| 9 | g.101424913G>C | CA374264327 | ALDOB | c.929C>G (p.Ala310Gly) c.905-13C>G (n.905-13C>G) | |
| 9 | g.101424913G>T | CA374264328 | ALDOB | c.929C>A (p.Ala310Glu) c.905-13C>A (n.905-13C>A) | |
| 9 | g.101424914C>A | CA374264329 | ALDOB | c.928G>T (p.Ala310Ser) c.905-14G>T (n.905-14G>T) | |
| 9 | g.101424914C= | CA1868278523 | ALDOB | c.928G= (p.Ala310=) c.905-14G= (n.905-14G=) | |
| 9 | g.101424914C>G | CA374264330 | ALDOB | c.928G>C (p.Ala310Pro) c.905-14G>C (n.905-14G>C) | |
| 9 | g.101424914C>T | CA374264331 | ALDOB | c.928G>A (p.Ala310Thr) c.905-14G>A (n.905-14G>A) | dbSNP |
| 9 | g.101424915A= | CA1868278527 | ALDOB | c.927T= (p.Ser309=) c.905-15T= (n.905-15T=) | |
| 9 | g.101424915A>C | CA374264332 | ALDOB | c.927T>G (p.Ser309Arg) c.905-15T>G (n.905-15T>G) | dbSNP gnomAD v4 |
| 9 | g.101424915A>G | CA466461886 | ALDOB | c.927T>C (p.Ser309=) c.905-15T>C (n.905-15T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101424915A>T | CA374264333 | ALDOB | c.927T>A (p.Ser309Arg) c.905-15T>A (n.905-15T>A) | |
| 9 | g.101424916C>A | CA374264334 | ALDOB | c.926G>T (p.Ser309Ile) c.905-16G>T (n.905-16G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101424916C= | CA1868278532 | ALDOB | c.926G= (p.Ser309=) c.905-16G= (n.905-16G=) | |
| 9 | g.101424916C>G | CA374264335 | ALDOB | c.926G>C (p.Ser309Thr) c.905-16G>C (n.905-16G>C) | |
| 9 | g.101424916C>T | CA196956594 | ALDOB | c.926G>A (p.Ser309Asn) c.905-16G>A (n.905-16G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101424917T>A | CA374264337 | ALDOB | c.925A>T (p.Ser309Cys) c.905-17A>T (n.905-17A>T) | |
| 9 | g.101424917T>C | CA374264338 | ALDOB | c.925A>G (p.Ser309Gly) c.905-17A>G (n.905-17A>G) | |
| 9 | g.101424917T>G | CA374264336 | ALDOB | c.925A>C (p.Ser309Arg) c.905-17A>C (n.905-17A>C) | |
| 9 | g.101424918G>A | CA466461887 | ALDOB | c.924C>T (p.Ala308=) c.905-18C>T (n.905-18C>T) | |
| 9 | g.101424918G>C | CA466461888 | ALDOB | c.924C>G (p.Ala308=) c.905-18C>G (n.905-18C>G) | |
| 9 | g.101424918G>T | CA466461889 | ALDOB | c.924C>A (p.Ala308=) c.905-18C>A (n.905-18C>A) | |
| 9 | g.101424919del | CA2691006763 | ALDOB | c.924del (p.Ser309ValfsTer21) c.905-18del (n.905-18del) | gnomAD v4 |
| 9 | g.101424919G>A | CA374264339 | ALDOB | c.923C>T (p.Ala308Val) c.905-19C>T (n.905-19C>T) | ClinVar |
| 9 | g.101424919G>C | CA5161430 | ALDOB | c.923C>G (p.Ala308Gly) c.905-19C>G (n.905-19C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101424919G= | CA1868278540 | ALDOB | c.923C= (p.Ala308=) c.905-19C= (n.905-19C=) | |
| 9 | g.101424919G>T | CA374264340 | ALDOB | c.923C>A (p.Ala308Asp) c.905-19C>A (n.905-19C>A) | dbSNP |
| 9 | g.101424920C>A | CA374264341 | ALDOB | c.922G>T (p.Ala308Ser) c.904+18G>T (n.904+18G>T) | gnomAD v4 |
| 9 | g.101424920C>G | CA374264342 | ALDOB | c.922G>C (p.Ala308Pro) c.904+18G>C (n.904+18G>C) | |
| 9 | g.101424920C>T | CA374264343 | ALDOB | c.922G>A (p.Ala308Thr) c.904+18G>A (n.904+18G>A) | |
| 9 | g.101424921C>A | CA374264344 | ALDOB | c.921G>T (p.Gln307His) c.904+17G>T (n.904+17G>T) | |
| 9 | g.101424921C= | CA1868278544 | ALDOB | c.921G= (p.Gln307=) c.904+17G= (n.904+17G=) | |
| 9 | g.101424921C>G | CA374264345 | ALDOB | c.921G>C (p.Gln307His) c.904+17G>C (n.904+17G>C) | |
| 9 | g.101424921C>T | CA466461890 | ALDOB | c.921G>A (p.Gln307=) c.904+17G>A (n.904+17G>A) | ClinVar dbSNP COSMIC |
| 9 | g.101424922T>A | CA374264346 | ALDOB | c.920A>T (p.Gln307Leu) c.904+16A>T (n.904+16A>T) | |
| 9 | g.101424922T>C | CA374264347 | ALDOB | c.920A>G (p.Gln307Arg) c.904+16A>G (n.904+16A>G) | gnomAD v4 |
| 9 | g.101424922T>G | CA374264348 | ALDOB | c.920A>C (p.Gln307Pro) c.904+16A>C (n.904+16A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101424922T= | CA1868278550 | ALDOB | c.920A= (p.Gln307=) c.904+16A= (n.904+16A=) | |
| 9 | g.101424923G>A | CA374264349 | ALDOB | c.919C>T (p.Gln307Ter) c.904+15C>T (n.904+15C>T) | gnomAD v4 |
| 9 | g.101424923G>C | CA374264350 | ALDOB | c.919C>G (p.Gln307Glu) c.904+15C>G (n.904+15C>G) | |
| 9 | g.101424923G= | CA1868278553 | ALDOB | c.919C= (p.Gln307=) c.904+15C= (n.904+15C=) | |
| 9 | g.101424923G>T | CA5161431 | ALDOB | c.919C>A (p.Gln307Lys) c.904+15C>A (n.904+15C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424924C>A | CA466461891 | ALDOB | c.918G>T (p.Leu306=) c.904+14G>T (n.904+14G>T) | |
| 9 | g.101424924C= | CA1868278557 | ALDOB | c.918G= (p.Leu306=) c.904+14G= (n.904+14G=) | |
| 9 | g.101424924C>G | CA466461892 | ALDOB | c.918G>C (p.Leu306=) c.904+14G>C (n.904+14G>C) | dbSNP |
| 9 | g.101424924C>T | CA466461893 | ALDOB | c.918G>A (p.Leu306=) c.904+14G>A (n.904+14G>A) | |
| 9 | g.101424925A>C | CA374264353 | ALDOB | c.917T>G (p.Leu306Arg) c.904+13T>G (n.904+13T>G) | |
| 9 | g.101424925A>G | CA374264351 | ALDOB | c.917T>C (p.Leu306Pro) c.904+13T>C (n.904+13T>C) | |
| 9 | g.101424925A>T | CA374264352 | ALDOB | c.917T>A (p.Leu306Gln) c.904+13T>A (n.904+13T>A) | |
| 9 | g.101424926G>A | CA466461894 | ALDOB | c.916C>T (p.Leu306=) c.904+12C>T (n.904+12C>T) | COSMIC |
| 9 | g.101424926G>C | CA374264354 | ALDOB | c.916C>G (p.Leu306Val) c.904+12C>G (n.904+12C>G) | |
| 9 | g.101424926G>T | CA374264355 | ALDOB | c.916C>A (p.Leu306Met) c.904+12C>A (n.904+12C>A) | |
| 9 | g.101424927G>A | CA466461895 | ALDOB | c.915C>T (p.Ala305=) c.904+11C>T (n.904+11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424927G>C | CA466461896 | ALDOB | c.915C>G (p.Ala305=) c.904+11C>G (n.904+11C>G) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101424927G= | CA1868278560 | ALDOB | c.915C= (p.Ala305=) c.904+11C= (n.904+11C=) | |
| 9 | g.101424927G>T | CA466461897 | ALDOB | c.915C>A (p.Ala305=) c.904+11C>A (n.904+11C>A) | |
| 9 | g.101424928G>A | CA374264356 | ALDOB | c.914C>T (p.Ala305Val) c.904+10C>T (n.904+10C>T) | ClinVar dbSNP |
| 9 | g.101424928G>C | CA374264357 | ALDOB | c.914C>G (p.Ala305Gly) c.904+10C>G (n.904+10C>G) | dbSNP gnomAD v2 |
| 9 | g.101424928G= | CA1868278565 | ALDOB | c.914C= (p.Ala305=) c.904+10C= (n.904+10C=) | |
| 9 | g.101424928G>T | CA374264358 | ALDOB | c.914C>A (p.Ala305Asp) c.904+10C>A (n.904+10C>A) | |
| 9 | g.101424929C>A | CA374264359 | ALDOB | c.913G>T (p.Ala305Ser) c.904+9G>T (n.904+9G>T) | |
| 9 | g.101424929C= | CA1868278569 | ALDOB | c.913G= (p.Ala305=) c.904+9G= (n.904+9G=) | |
| 9 | g.101424929C>G | CA374264360 | ALDOB | c.913G>C (p.Ala305Pro) c.904+9G>C (n.904+9G>C) | |
| 9 | g.101424929C>T | CA196956599 | ALDOB | c.913G>A (p.Ala305Thr) c.904+9G>A (n.904+9G>A) | dbSNP gnomAD v4 |
| 9 | g.101424930C>A | CA466461898 | ALDOB | c.912G>T (p.Arg304=) c.904+8G>T (n.904+8G>T) | |
| 9 | g.101424930C= | CA1868278574 | ALDOB | c.912G= (p.Arg304=) c.904+8G= (n.904+8G=) | |
| 9 | g.101424930C>G | CA466461899 | ALDOB | c.912G>C (p.Arg304=) c.904+8G>C (n.904+8G>C) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101424930C>T | CA466461900 | ALDOB | c.912G>A (p.Arg304=) c.904+8G>A (n.904+8G>A) | ClinVar dbSNP |
| 9 | g.101424931C>A | CA374264361 | ALDOB | c.911G>T (p.Arg304Leu) c.904+7G>T (n.904+7G>T) | |
| 9 | g.101424931C= | CA1868278579 | ALDOB | c.911G= (p.Arg304=) c.904+7G= (n.904+7G=) | |
| 9 | g.101424931C>G | CA5161433 | ALDOB | c.911G>C (p.Arg304Pro) c.904+7G>C (n.904+7G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424931C>T | CA5161432 | ALDOB | c.911G>A (p.Arg304Gln) c.904+7G>A (n.904+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424932G>A | CA5161434 | ALDOB | c.910C>T (p.Arg304Trp) c.904+6C>T (n.904+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101424932G>C | CA374264362 | ALDOB | c.910C>G (p.Arg304Gly) c.904+6C>G (n.904+6C>G) | gnomAD v4 |
| 9 | g.101424932G= | CA1868278582 | ALDOB | c.910C= (p.Arg304=) c.904+6C= (n.904+6C=) | |
| 9 | g.101424932G>T | CA466461901 | ALDOB | c.910C>A (p.Arg304=) c.904+6C>A (n.904+6C>A) | dbSNP |
| 9 | g.101424933T>A | CA466461902 | ALDOB | c.909A>T (p.Gly303=) c.904+5A>T (n.904+5A>T) | |
| 9 | g.101424933T>C | CA466461904 | ALDOB | c.909A>G (p.Gly303=) c.904+5A>G (n.904+5A>G) | |
| 9 | g.101424933T>G | CA466461903 | ALDOB | c.909A>C (p.Gly303=) c.904+5A>C (n.904+5A>C) | |
| 9 | g.101424934C>A | CA374264363 | ALDOB | c.908G>T (p.Gly303Val) c.904+4G>T (n.904+4G>T) | |
| 9 | g.101424934C>G | CA374264364 | ALDOB | c.908G>C (p.Gly303Ala) c.904+4G>C (n.904+4G>C) | |
| 9 | g.101424934C>T | CA374264365 | ALDOB | c.908G>A (p.Gly303Glu) c.904+4G>A (n.904+4G>A) | |
| 9 | g.101424935C>A | CA374264366 | ALDOB | c.907G>T (p.Gly303Ter) c.904+3G>T (n.904+3G>T) | |
| 9 | g.101424935C>G | CA374264367 | ALDOB | c.907G>C (p.Gly303Arg) c.904+3G>C (n.904+3G>C) | |
| 9 | g.101424935C>T | CA374264368 | ALDOB | c.907G>A (p.Gly303Arg) c.904+3G>A (n.904+3G>A) | |
| 9 | g.101424936A= | CA1868278588 | ALDOB | c.906T= (p.Tyr302=) c.904+2T= (n.904+2T=) | |
| 9 | g.101424936A>C | CA374264369 | ALDOB | c.906T>G (p.Tyr302Ter) c.904+2T>G (n.904+2T>G) | |
| 9 | g.101424936A>G | CA5161435 | ALDOB | c.906T>C (p.Tyr302=) c.904+2T>C (n.904+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424936A>T | CA374264370 | ALDOB | c.906T>A (p.Tyr302Ter) c.904+2T>A (n.904+2T>A) | |
| 9 | g.101424937T>A | CA374264371 | ALDOB | c.905A>T (p.Tyr302Phe) c.904+1A>T (n.904+1A>T) | |
| 9 | g.101424937T>C | CA374264372 | ALDOB | c.905A>G (p.Tyr302Cys) c.904+1A>G (n.904+1A>G) | |
| 9 | g.101424937T>G | CA374264373 | ALDOB | c.905A>C (p.Tyr302Ser) c.904+1A>C (n.904+1A>C) | |
| 9 | g.101424938A>C | CA374264375 | ALDOB | c.904T>G (p.Tyr302Asp) c.904T>G (p.Trp302Gly) | |
| 9 | g.101424938A>G | CA374264376 | ALDOB | c.904T>C (p.Tyr302His) c.904T>C (p.Trp302Arg) | |
| 9 | g.101424938A>T | CA374264374 | ALDOB | c.904T>A (p.Tyr302Asn) c.904T>A (p.Trp302Arg) | |
| 9 | g.101424939A= | CA1868278593 | ALDOB | c.903T= (p.Ser301=) | |
| 9 | g.101424939A>C | CA466461905 | ALDOB | c.903T>G (p.Ser301=) | |
| 9 | g.101424939A>G | CA466461906 | ALDOB | c.903T>C (p.Ser301=) | |
| 9 | g.101424939A>T | CA466461907 | ALDOB | c.903T>A (p.Ser301=) | dbSNP |
| 9 | g.101424940G>A | CA374264377 | ALDOB | c.902C>T (p.Ser301Phe) | COSMIC |
| 9 | g.101424940G>C | CA374264378 | ALDOB | c.902C>G (p.Ser301Cys) | |
| 9 | g.101424940G>T | CA374264379 | ALDOB | c.902C>A (p.Ser301Tyr) | gnomAD v4 |
| 9 | g.101424941A>C | CA374264380 | ALDOB | c.901T>G (p.Ser301Ala) | |
| 9 | g.101424941A>G | CA374264381 | ALDOB | c.901T>C (p.Ser301Pro) | gnomAD v4 COSMIC |
| 9 | g.101424941A>T | CA374264382 | ALDOB | c.901T>A (p.Ser301Thr) | |
| 9 | g.101424942G>A | CA466461908 | ALDOB | c.900C>T (p.Phe300=) | dbSNP |
| 9 | g.101424942G>C | CA374264383 | ALDOB | c.900C>G (p.Phe300Leu) | |
| 9 | g.101424942G= | CA1868278596 | ALDOB | c.900C= (p.Phe300=) | |
| 9 | g.101424942G>T | CA374264384 | ALDOB | c.900C>A (p.Phe300Leu) | COSMIC |
| 9 | g.101424943A>C | CA374264385 | ALDOB | c.899T>G (p.Phe300Cys) | |
| 9 | g.101424943A>G | CA374264386 | ALDOB | c.899T>C (p.Phe300Ser) | |
| 9 | g.101424943A>T | CA374264387 | ALDOB | c.899T>A (p.Phe300Tyr) | |
| 9 | g.101424944A>C | CA374264388 | ALDOB | c.898T>G (p.Phe300Val) | |
| 9 | g.101424944A>G | CA374264389 | ALDOB | c.898T>C (p.Phe300Leu) | |
| 9 | g.101424944A>T | CA374264390 | ALDOB | c.898T>A (p.Phe300Ile) | |
| 9 | g.101424945A= | CA1868278600 | ALDOB | c.897T= (p.Ser299=) | |
| 9 | g.101424945A>C | CA374264391 | ALDOB | c.897T>G (p.Ser299Arg) | |
| 9 | g.101424945A>G | CA466461909 | ALDOB | c.897T>C (p.Ser299=) | dbSNP gnomAD v4 |
| 9 | g.101424945A>T | CA374264392 | ALDOB | c.897T>A (p.Ser299Arg) | |
| 9 | g.101424946C>A | CA374264393 | ALDOB | c.896G>T (p.Ser299Ile) | |
| 9 | g.101424946C>G | CA374264395 | ALDOB | c.896G>C (p.Ser299Thr) | gnomAD v4 |
| 9 | g.101424946C>T | CA374264394 | ALDOB | c.896G>A (p.Ser299Asn) | |
| 9 | g.101424947T>A | CA374264396 | ALDOB | c.895A>T (p.Ser299Cys) | |
| 9 | g.101424947T>C | CA374264398 | ALDOB | c.895A>G (p.Ser299Gly) | |
| 9 | g.101424947T>G | CA374264397 | ALDOB | c.895A>C (p.Ser299Arg) | |
| 9 | g.101424948T>A | CA466461910 | ALDOB | c.894A>T (p.Leu298=) | |
| 9 | g.101424948T>C | CA466461911 | ALDOB | c.894A>G (p.Leu298=) | |
| 9 | g.101424948T>G | CA466461912 | ALDOB | c.894A>C (p.Leu298=) | |
| 9 | g.101424948_101424949del | CA2579403624 | ALDOB | c.893_894del (p.Leu298GlnfsTer?) | gnomAD v4 |
| 9 | g.101424949A>C | CA374264399 | ALDOB | c.893T>G (p.Leu298Arg) | |
| 9 | g.101424949A>G | CA374264401 | ALDOB | c.893T>C (p.Leu298Pro) | COSMIC |
| 9 | g.101424949A>T | CA374264400 | ALDOB | c.893T>A (p.Leu298Gln) | |
| 9 | g.101424950G>A | CA466461913 | ALDOB | c.892C>T (p.Leu298=) | |
| 9 | g.101424950G>C | CA374264402 | ALDOB | c.892C>G (p.Leu298Val) | |
| 9 | g.101424950G>T | CA374264403 | ALDOB | c.892C>A (p.Leu298Ile) | |
| 9 | g.101424951T>A | CA374264404 | ALDOB | c.891A>T (p.Lys297Asn) | |
| 9 | g.101424951T>C | CA466461914 | ALDOB | c.891A>G (p.Lys297=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424951T>G | CA374264405 | ALDOB | c.891A>C (p.Lys297Asn) | |
| 9 | g.101424951T= | CA1868278603 | ALDOB | c.891A= (p.Lys297=) | |
| 9 | g.101424952T>A | CA374264406 | ALDOB | c.890A>T (p.Lys297Ile) | |
| 9 | g.101424952T>C | CA374264407 | ALDOB | c.890A>G (p.Lys297Arg) | |
| 9 | g.101424952T>G | CA374264408 | ALDOB | c.890A>C (p.Lys297Thr) | |
| 9 | g.101424953T>A | CA374264409 | ALDOB | c.889A>T (p.Lys297Ter) | |
| 9 | g.101424953T>C | CA374264410 | ALDOB | c.889A>G (p.Lys297Glu) | |
| 9 | g.101424953T>G | CA374264411 | ALDOB | c.889A>C (p.Lys297Gln) | COSMIC |
| 9 | g.101424954C>A | CA374264412 | ALDOB | c.888G>T (p.Trp296Cys) | |
| 9 | g.101424954C= | CA1868278606 | ALDOB | c.888G= (p.Trp296=) | |
| 9 | g.101424954C>G | CA374264413 | ALDOB | c.888G>C (p.Trp296Cys) | |
| 9 | g.101424954C>T | CA16041283 | ALDOB | c.888G>A (p.Trp296Ter) | ClinVar dbSNP COSMIC |
| 9 | g.101424955C>A | CA374264416 | ALDOB | c.887G>T (p.Trp296Leu) | |
| 9 | g.101424955C= | CA1868278614 | ALDOB | c.887G= (p.Trp296=) | |
| 9 | g.101424955C>G | CA374264414 | ALDOB | c.887G>C (p.Trp296Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101424955C>T | CA374264415 | ALDOB | c.887G>A (p.Trp296Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101424956del | CA2785321924 | ALDOB | c.886del (p.Trp296GlyfsTer3) | |
| 9 | g.101424956A>C | CA374264417 | ALDOB | c.886T>G (p.Trp296Gly) | |
| 9 | g.101424956A>G | CA374264418 | ALDOB | c.886T>C (p.Trp296Arg) | gnomAD v4 |
| 9 | g.101424956A>T | CA374264419 | ALDOB | c.886T>A (p.Trp296Arg) | |
| 9 | g.101424957G>A | CA466461915 | ALDOB | c.885C>T (p.Pro295=) | |
| 9 | g.101424957G>C | CA466461916 | ALDOB | c.885C>G (p.Pro295=) | |
| 9 | g.101424957G>T | CA466461917 | ALDOB | c.885C>A (p.Pro295=) | |
| 9 | g.101424958G>A | CA374264420 | ALDOB | c.884C>T (p.Pro295Leu) | gnomAD v4 |
| 9 | g.101424958G>C | CA374264421 | ALDOB | c.884C>G (p.Pro295Arg) | |
| 9 | g.101424958G>T | CA374264422 | ALDOB | c.884C>A (p.Pro295His) | |
| 9 | g.101424959G>A | CA374264423 | ALDOB | c.883C>T (p.Pro295Ser) | |
| 9 | g.101424959G>C | CA374264424 | ALDOB | c.883C>G (p.Pro295Ala) | |
| 9 | g.101424959G= | CA1868278620 | ALDOB | c.883C= (p.Pro295=) | |
| 9 | g.101424959G>T | CA374264425 | ALDOB | c.883C>A (p.Pro295Thr) | dbSNP |
| 9 | g.101424960C>A | CA374264426 | ALDOB | c.882G>T (p.Lys294Asn) | |
| 9 | g.101424960C>G | CA374264427 | ALDOB | c.882G>C (p.Lys294Asn) | |
| 9 | g.101424960C>T | CA466461918 | ALDOB | c.882G>A (p.Lys294=) | |
| 9 | g.101424961T>A | CA374264428 | ALDOB | c.881A>T (p.Lys294Met) | gnomAD v4 |
| 9 | g.101424961T>C | CA374264430 | ALDOB | c.881A>G (p.Lys294Arg) | |
| 9 | g.101424961T>G | CA374264429 | ALDOB | c.881A>C (p.Lys294Thr) | |
| 9 | g.101424962T>A | CA374264431 | ALDOB | c.880A>T (p.Lys294Ter) | |
| 9 | g.101424962T>C | CA374264432 | ALDOB | c.880A>G (p.Lys294Glu) | |
| 9 | g.101424962T>G | CA374264433 | ALDOB | c.880A>C (p.Lys294Gln) | |
| 9 | g.101424963T>A | CA196956609 | ALDOB | c.879A>T (p.Pro293=) | dbSNP |
| 9 | g.101424963T>C | CA466461919 | ALDOB | c.879A>G (p.Pro293=) | |
| 9 | g.101424963T>G | CA466461920 | ALDOB | c.879A>C (p.Pro293=) | |
| 9 | g.101424963T= | CA1868278623 | ALDOB | c.879A= (p.Pro293=) | |
| 9 | g.101424964G>A | CA374264434 | ALDOB | c.878C>T (p.Pro293Leu) | |
| 9 | g.101424964G>C | CA374264435 | ALDOB | c.878C>G (p.Pro293Arg) | dbSNP gnomAD v4 |
| 9 | g.101424964G= | CA1868278628 | ALDOB | c.878C= (p.Pro293=) | |
| 9 | g.101424964G>T | CA374264436 | ALDOB | c.878C>A (p.Pro293Gln) | |
| 9 | g.101424965G>A | CA374264437 | ALDOB | c.877C>T (p.Pro293Ser) | |
| 9 | g.101424965G>C | CA374264438 | ALDOB | c.877C>G (p.Pro293Ala) | |
| 9 | g.101424965G>T | CA374264439 | ALDOB | c.877C>A (p.Pro293Thr) | |
| 9 | g.101424966T>A | CA466461921 | ALDOB | c.876A>T (p.Leu292=) | |
| 9 | g.101424966T>C | CA466461923 | ALDOB | c.876A>G (p.Leu292=) | dbSNP |
| 9 | g.101424966T>G | CA466461922 | ALDOB | c.876A>C (p.Leu292=) | |
| 9 | g.101424967A= | CA1868278631 | ALDOB | c.875T= (p.Leu292=) | |
| 9 | g.101424967A>C | CA374264441 | ALDOB | c.875T>G (p.Leu292Arg) | |
| 9 | g.101424967A>G | CA5161436 | ALDOB | c.875T>C (p.Leu292Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424967A>T | CA374264440 | ALDOB | c.875T>A (p.Leu292Gln) | |
| 9 | g.101424968G>A | CA466461924 | ALDOB | c.874C>T (p.Leu292=) | |
| 9 | g.101424968G>C | CA374264442 | ALDOB | c.874C>G (p.Leu292Val) | |
| 9 | g.101424968G>T | CA374264443 | ALDOB | c.874C>A (p.Leu292Ile) | gnomAD v4 |
| 9 | g.101424969A= | CA1868278634 | ALDOB | c.873T= (p.Pro291=) | |
| 9 | g.101424969A>C | CA466461925 | ALDOB | c.873T>G (p.Pro291=) | |
| 9 | g.101424969A>G | CA5161437 | ALDOB | c.873T>C (p.Pro291=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101424969A>T | CA5161438 | ALDOB | c.873T>A (p.Pro291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424970G>A | CA374264444 | ALDOB | c.872C>T (p.Pro291Leu) | |
| 9 | g.101424970G>C | CA374264445 | ALDOB | c.872C>G (p.Pro291Arg) | |
| 9 | g.101424970G>T | CA374264446 | ALDOB | c.872C>A (p.Pro291His) | gnomAD v4 |
| 9 | g.101424971G>A | CA5161439 | ALDOB | c.871C>T (p.Pro291Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424971G>C | CA374264447 | ALDOB | c.871C>G (p.Pro291Ala) | |
| 9 | g.101424971G= | CA1868278638 | ALDOB | c.871C= (p.Pro291=) | |
| 9 | g.101424971G>T | CA374264448 | ALDOB | c.871C>A (p.Pro291Thr) | |
| 9 | g.101424972G>A | CA466461926 | ALDOB | c.870C>T (p.Cys290=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.101424972G>C | CA5161440 | ALDOB | c.870C>G (p.Cys290Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424972G= | CA1868278639 | ALDOB | c.870C= (p.Cys290=) | |
| 9 | g.101424972G>T | CA374264449 | ALDOB | c.870C>A (p.Cys290Ter) |