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.101424841A>C | CA374264150 | ALDOB | c.999+2T>G (n.999+2T>G) c.1001T>G (p.Val334Gly) c.*11+2T>G (n.*11+2T>G) | |
| 9 | g.101424841A>G | CA374264148 | ALDOB | c.999+2T>C (n.999+2T>C) c.1001T>C (p.Val334Ala) c.*11+2T>C (n.*11+2T>C) | ClinVar |
| 9 | g.101424841A>T | CA374264149 | ALDOB | c.999+2T>A (n.999+2T>A) c.1001T>A (p.Val334Glu) c.*11+2T>A (n.*11+2T>A) | |
| 9 | g.101424842C>A | CA374264151 | ALDOB | c.999+1G>T (n.999+1G>T) c.1000G>T (p.Val334Leu) c.*11+1G>T (n.*11+1G>T) | |
| 9 | g.101424842C>G | CA374264152 | ALDOB | c.999+1G>C (n.999+1G>C) c.1000G>C (p.Val334Leu) c.*11+1G>C (n.*11+1G>C) | |
| 9 | g.101424842C>T | CA374264153 | ALDOB | c.999+1G>A (n.999+1G>A) c.1000G>A (p.Val334Ile) c.*11+1G>A (n.*11+1G>A) | COSMIC |
| 9 | g.101424843C>A | CA374264154 | ALDOB | c.999G>T (p.Met333Ile) c.*11G>T (n.*11G>T) | |
| 9 | g.101424843C= | CA1868278384 | ALDOB | c.999G= (p.Met333=) c.*11G= (n.*11G=) | |
| 9 | g.101424843C>G | CA374264155 | ALDOB | c.999G>C (p.Met333Ile) c.*11G>C (n.*11G>C) | |
| 9 | g.101424843C>T | CA374264156 | ALDOB | c.999G>A (p.Met333Ile) c.*11G>A (n.*11G>A) | dbSNP gnomAD v2 |
| 9 | g.101424844A= | CA1868278387 | ALDOB | c.998T= (p.Met333=) c.*10T= (n.*10T=) | |
| 9 | g.101424844A>C | CA374264157 | ALDOB | c.998T>G (p.Met333Arg) c.*10T>G (n.*10T>G) | |
| 9 | g.101424844A>G | CA196956570 | ALDOB | c.998T>C (p.Met333Thr) c.*10T>C (n.*10T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101424844A>T | CA374264158 | ALDOB | c.998T>A (p.Met333Lys) c.*10T>A (n.*10T>A) | |
| 9 | g.101424845T>A | CA374264159 | ALDOB | c.997A>T (p.Met333Leu) c.*9A>T (n.*9A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424845T>C | CA374264160 | ALDOB | c.997A>G (p.Met333Val) c.*9A>G (n.*9A>G) | dbSNP |
| 9 | g.101424845T>G | CA374264161 | ALDOB | c.997A>C (p.Met333Leu) c.*9A>C (n.*9A>C) | gnomAD v4 |
| 9 | g.101424845T= | CA1868278390 | ALDOB | c.997A= (p.Met333=) c.*9A= (n.*9A=) | |
| 9 | g.101424846G>A | CA466461861 | ALDOB | c.996C>T (p.Ala332=) c.*8C>T (n.*8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424846G>C | CA466461862 | ALDOB | c.996C>G (p.Ala332=) c.*8C>G (n.*8C>G) | |
| 9 | g.101424846G= | CA1868278392 | ALDOB | c.996C= (p.Ala332=) c.*8C= (n.*8C=) | |
| 9 | g.101424846G>T | CA466461863 | ALDOB | c.996C>A (p.Ala332=) c.*8C>A (n.*8C>A) | |
| 9 | g.101424847G>A | CA374264162 | ALDOB | c.995C>T (p.Ala332Val) c.*7C>T (n.*7C>T) | |
| 9 | g.101424847G>C | CA374264164 | ALDOB | c.995C>G (p.Ala332Gly) c.*7C>G (n.*7C>G) | |
| 9 | g.101424847G>T | CA374264163 | ALDOB | c.995C>A (p.Ala332Asp) c.*7C>A (n.*7C>A) | |
| 9 | g.101424849_101424852del | CA2691006759 | ALDOB | c.992_995del (p.Arg331ProfsTer?) c.992_995del (p.Arg331ProfsTer3) c.*4_*7del (n.*4_*7del) | gnomAD v4 |
| 9 | g.101424850_101424891del | CA2499219512 | ALDOB | c.954_995del (p.Ala319_Ala332del) c.917_*7del (n.[c.917_*7del;Leu306ProfsTer?]) | ClinVar dbSNP |
| 9 | g.101424848C>A | CA374264165 | ALDOB | c.994G>T (p.Ala332Ser) c.*6G>T (n.*6G>T) | gnomAD v4 |
| 9 | g.101424848C>G | CA374264167 | ALDOB | c.994G>C (p.Ala332Pro) c.*6G>C (n.*6G>C) | |
| 9 | g.101424848C>T | CA374264166 | ALDOB | c.994G>A (p.Ala332Thr) c.*6G>A (n.*6G>A) | |
| 9 | g.101424850dup | CA645547392 | ALDOB | c.994dup (p.Ala332GlyfsTer4) c.994dup (p.Ala332GlyfsTer20) c.*6dup (n.*6dup) | COSMIC |
| 9 | g.101424849C>A | CA466461866 | ALDOB | c.993G>T (p.Arg331=) c.*5G>T (n.*5G>T) | |
| 9 | g.101424849C>G | CA466461869 | ALDOB | c.993G>C (p.Arg331=) c.*5G>C (n.*5G>C) | |
| 9 | g.101424849C>T | CA466461867 | ALDOB | c.993G>A (p.Arg331=) c.*5G>A (n.*5G>A) | |
| 9 | g.101424850C>A | CA5161417 | ALDOB | c.992G>T (p.Arg331Leu) c.*4G>T (n.*4G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424850C= | CA1868278396 | ALDOB | c.992G= (p.Arg331=) c.*4G= (n.*4G=) | |
| 9 | g.101424850C>G | CA374264168 | ALDOB | c.992G>C (p.Arg331Pro) c.*4G>C (n.*4G>C) | |
| 9 | g.101424850C>T | CA5161416 | ALDOB | c.992G>A (p.Arg331Gln) c.*4G>A (n.*4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101424851G>A | CA5161418 | ALDOB | c.991C>T (p.Arg331Trp) c.*3C>T (n.*3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.101424851G>C | CA374264169 | ALDOB | c.991C>G (p.Arg331Gly) c.*3C>G (n.*3C>G) | |
| 9 | g.101424851G= | CA1868278401 | ALDOB | c.991C= (p.Arg331=) c.*3C= (n.*3C=) | |
| 9 | g.101424851G>T | CA466461870 | ALDOB | c.991C>A (p.Arg331=) c.*3C>A (n.*3C>A) | |
| 9 | g.101424852C>A | CA374264170 | ALDOB | c.990G>T (p.Lys330Asn) c.*2G>T (n.*2G>T) | dbSNP |
| 9 | g.101424852C= | CA1868278404 | ALDOB | c.990G= (p.Lys330=) c.*2G= (n.*2G=) | |
| 9 | g.101424852C>G | CA374264171 | ALDOB | c.990G>C (p.Lys330Asn) c.*2G>C (n.*2G>C) | |
| 9 | g.101424852C>T | CA466461872 | ALDOB | c.990G>A (p.Lys330=) c.*2G>A (n.*2G>A) | |
| 9 | g.101424853T>A | CA374264174 | ALDOB | c.989A>T (p.Lys330Met) c.*1A>T (n.*1A>T) | |
| 9 | g.101424853T>C | CA374264172 | ALDOB | c.989A>G (p.Lys330Arg) c.*1A>G (n.*1A>G) | |
| 9 | g.101424853T>G | CA374264173 | ALDOB | c.989A>C (p.Lys330Thr) c.*1A>C (n.*1A>C) | |
| 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) | |
| 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 |
| 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 |