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.101424854T>A | CA374264175 | ALDOB | c.988A>T (p.Lys330Ter) c.951A>T (p.Ter317Cys) | |
9 | g.101424854T>C | CA374264176 | ALDOB | c.988A>G (p.Lys330Glu) c.951A>G (p.Ter317Trp) | |
9 | g.101424854T>G | CA374264177 | ALDOB | c.988A>C (p.Lys330Gln) c.951A>C (p.Ter317Cys) | |
9 | g.101424855C>A | CA374264178 | ALDOB | c.987G>T (p.Met329Ile) c.950G>T (p.Ter317Leu) | gnomAD v4 |
9 | g.101424855C>G | CA374264179 | ALDOB | c.987G>C (p.Met329Ile) c.950G>C (p.Ter317Ser) | |
9 | g.101424855C>T | CA374264180 | ALDOB | c.987G>A (p.Met329Ile) c.950G>A (p.Ter317=) | |
9 | g.101424856A= | CA1868278408 | ALDOB | c.986T= (p.Met329=) c.949T= (p.Ter317=) | |
9 | g.101424856A>C | CA374264181 | ALDOB | c.986T>G (p.Met329Arg) c.949T>G (p.Ter317Gly) | |
9 | g.101424856A>G | CA374264183 | ALDOB | c.986T>C (p.Met329Thr) c.949T>C (p.Ter317Arg) | dbSNP gnomAD v4 |
9 | g.101424856A>T | CA374264182 | ALDOB | c.986T>A (p.Met329Lys) c.949T>A (p.Ter317Arg) | |
9 | g.101424857T>A | CA5161420 | ALDOB | c.985A>T (p.Met329Leu) c.948A>T (p.Leu316Phe) | dbSNP ExAC |
9 | g.101424857T>C | CA5161419 | ALDOB | c.985A>G (p.Met329Val) c.948A>G (p.Leu316=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101424857T>G | CA374264184 | ALDOB | c.985A>C (p.Met329Leu) c.948A>C (p.Leu316Phe) | |
9 | g.101424857T= | CA1868278410 | ALDOB | c.985A= (p.Met329=) c.948A= (p.Leu316=) | |
9 | g.101424858A= | CA1868278413 | ALDOB | c.984T= (p.Phe328=) c.947T= (p.Leu316=) | |
9 | g.101424858A>C | CA374264185 | ALDOB | c.984T>G (p.Phe328Leu) c.947T>G (p.Leu316Ter) | |
9 | g.101424858A>G | CA374264186 | ALDOB | c.984T>C (p.Phe328=) c.947T>C (p.Leu316Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101424858A>T | CA374264187 | ALDOB | c.984T>A (p.Phe328Leu) c.947T>A (p.Leu316Ter) | |
9 | g.101424859A>C | CA374264188 | ALDOB | c.983T>G (p.Phe328Cys) c.946T>G (p.Leu316Val) | |
9 | g.101424859A>G | CA374264189 | ALDOB | c.983T>C (p.Phe328Ser) c.946T>C (p.Leu316=) | |
9 | g.101424859A>T | CA374264190 | ALDOB | c.983T>A (p.Phe328Tyr) c.946T>A (p.Leu316Ile) | |
9 | g.101424860A>C | CA374264191 | ALDOB | c.982T>G (p.Phe328Val) c.945T>G (p.Leu315=) | |
9 | g.101424860A>G | CA374264192 | ALDOB | c.982T>C (p.Phe328Leu) c.945T>C (p.Leu315=) | |
9 | g.101424860A>T | CA374264193 | ALDOB | c.982T>A (p.Phe328Ile) c.945T>A (p.Leu315=) | |
9 | g.101424861A>C | CA374264194 | ALDOB | c.981T>G (p.Ala327=) c.944T>G (p.Leu315Arg) | |
9 | g.101424861A>G | CA374264196 | ALDOB | c.981T>C (p.Ala327=) c.944T>C (p.Leu315Pro) | |
9 | g.101424861A>T | CA374264195 | ALDOB | c.981T>A (p.Ala327=) c.944T>A (p.Leu315His) | |
9 | g.101424862G>A | CA5161421 | ALDOB | c.980C>T (p.Ala327Val) c.943C>T (p.Leu315Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101424862G>C | CA374264197 | ALDOB | c.980C>G (p.Ala327Gly) c.943C>G (p.Leu315Val) | |
9 | g.101424862G= | CA1868278416 | ALDOB | c.980C= (p.Ala327=) c.943C= (p.Leu315=) | |
9 | g.101424862G>T | CA374264198 | ALDOB | c.980C>A (p.Ala327Asp) c.943C>A (p.Leu315Ile) | |
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) |