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.101424863C>A | CA374264199 | ALDOB | c.979G>T (p.Ala327Ser) c.942G>T (p.Arg314Ser) | |
9 | g.101424863C>G | CA374264200 | ALDOB | c.979G>C (p.Ala327Pro) c.942G>C (p.Arg314Ser) | |
9 | g.101424863C>T | CA374264201 | ALDOB | c.979G>A (p.Ala327Thr) c.942G>A (p.Arg314=) | |
9 | g.101424864C>A | CA374264202 | ALDOB | c.978G>T (p.Glu326Asp) c.941G>T (p.Arg314Met) | |
9 | g.101424864C= | CA1868278419 | ALDOB | c.978G= (p.Glu326=) c.941G= (p.Arg314=) | |
9 | g.101424864C>G | CA374264203 | ALDOB | c.978G>C (p.Glu326Asp) c.941G>C (p.Arg314Thr) | |
9 | g.101424864C>T | CA374264204 | ALDOB | c.978G>A (p.Glu326=) c.941G>A (p.Arg314Lys) | dbSNP gnomAD v4 |
9 | g.101424865T>A | CA374264205 | ALDOB | c.977A>T (p.Glu326Val) c.940A>T (p.Arg314Trp) | |
9 | g.101424865T>C | CA374264206 | ALDOB | c.977A>G (p.Glu326Gly) c.940A>G (p.Arg314Gly) | |
9 | g.101424865T>G | CA374264207 | ALDOB | c.977A>C (p.Glu326Ala) c.940A>C (p.Arg314=) | |
9 | g.101424866C>A | CA374264210 | ALDOB | c.976G>T (p.Glu326Ter) c.939G>T (p.Arg313Ser) | |
9 | g.101424866C= | CA1868278421 | ALDOB | c.976G= (p.Glu326=) c.939G= (p.Arg313=) | |
9 | g.101424866C>G | CA374264209 | ALDOB | c.976G>C (p.Glu326Gln) c.939G>C (p.Arg313Ser) | |
9 | g.101424866C>T | CA374264208 | ALDOB | c.976G>A (p.Glu326Lys) c.939G>A (p.Arg313=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101424867C>A | CA374264211 | ALDOB | c.975G>T (p.Gln325His) c.938G>T (p.Arg313Met) | |
9 | g.101424867C>G | CA374264212 | ALDOB | c.975G>C (p.Gln325His) c.938G>C (p.Arg313Thr) | dbSNP |
9 | g.101424867C>T | CA374264213 | ALDOB | c.975G>A (p.Gln325=) c.938G>A (p.Arg313Lys) | |
9 | g.101424868T>A | CA374264214 | ALDOB | c.974A>T (p.Gln325Leu) c.937A>T (p.Arg313Trp) | |
9 | g.101424868T>C | CA374264215 | ALDOB | c.974A>G (p.Gln325Arg) c.937A>G (p.Arg313Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424868T>G | CA374264216 | ALDOB | c.974A>C (p.Gln325Pro) c.937A>C (p.Arg313=) | |
9 | g.101424868T= | CA1868278423 | ALDOB | c.974A= (p.Gln325=) c.937A= (p.Arg313=) | |
9 | g.101424869G>A | CA374264217 | ALDOB | c.973C>T (p.Gln325Ter) c.936C>T (p.Pro312=) | COSMIC |
9 | g.101424869G>C | CA374264218 | ALDOB | c.973C>G (p.Gln325Glu) c.936C>G (p.Pro312=) | gnomAD v4 |
9 | g.101424869G= | CA1868278426 | ALDOB | c.973C= (p.Gln325=) c.936C= (p.Pro312=) | |
9 | g.101424869G>T | CA374264219 | ALDOB | c.973C>A (p.Gln325Lys) c.936C>A (p.Pro312=) | dbSNP |
9 | g.101424870G>A | CA196956580 | ALDOB | c.972C>T (p.Thr324=) c.935C>T (p.Pro312Leu) | ClinVar dbSNP gnomAD v4 |
9 | g.101424870G>C | CA374264220 | ALDOB | c.972C>G (p.Thr324=) c.935C>G (p.Pro312Arg) | ClinVar |
9 | g.101424870G= | CA1868278428 | ALDOB | c.972C= (p.Thr324=) c.935C= (p.Pro312=) | |
9 | g.101424870G>T | CA374264221 | ALDOB | c.972C>A (p.Thr324=) c.935C>A (p.Pro312His) | |
9 | g.101424871G>A | CA374264222 | ALDOB | c.971C>T (p.Thr324Ile) c.934C>T (p.Pro312Ser) | ClinVar dbSNP gnomAD v4 |
9 | g.101424871G>C | CA374264224 | ALDOB | c.971C>G (p.Thr324Ser) c.934C>G (p.Pro312Ala) | gnomAD v4 |
9 | g.101424871G>T | CA374264223 | ALDOB | c.971C>A (p.Thr324Asn) c.934C>A (p.Pro312Thr) | gnomAD v4 |
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=) |