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.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=) | |
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 |