Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.24527973C= | CA1616534915 | ALDH5A1 | c.1174-24C= (n.1174-24C=) n.289-24C= c.793-24C= (n.793-24C=) c.1137-24C= c.1213-24C= (n.1213-24C=) c.1090-24C= (n.1090-24C=) c.1030-24C= (n.1030-24C=) | |
6 | g.24527973C>G | CA2677529425 | ALDH5A1 | c.1174-24C>G (n.1174-24C>G) n.289-24C>G c.793-24C>G (n.793-24C>G) c.1137-24C>G c.1213-24C>G (n.1213-24C>G) c.1090-24C>G (n.1090-24C>G) c.1030-24C>G (n.1030-24C>G) | gnomAD v4 |
6 | g.24527973C>T | CA823302090 | ALDH5A1 | c.1174-24C>T (n.1174-24C>T) n.289-24C>T c.793-24C>T (n.793-24C>T) c.1137-24C>T c.1213-24C>T (n.1213-24C>T) c.1090-24C>T (n.1090-24C>T) c.1030-24C>T (n.1030-24C>T) | dbSNP |
6 | g.24527973_24527974delinsCT | CA1616534914 | ALDH5A1 | c.1174-24_1174-23delinsCT (n.1174-24_1174-23delinsCT) n.289-24_289-23delinsCT c.793-24_793-23delinsCT (n.793-24_793-23delinsCT) c.1137-24_1137-23delinsCT c.1213-24_1213-23delinsCT (n.1213-24_1213-23delinsCT) c.1090-24_1090-23delinsCT (n.1090-24_1090-23delinsCT) c.1030-24_1030-23delinsCT (n.1030-24_1030-23delinsCT) | |
6 | g.24527974T>A | CA566286750 | ALDH5A1 | c.1174-23T>A (n.1174-23T>A) n.289-23T>A c.793-23T>A (n.793-23T>A) c.1137-23T>A c.1213-23T>A (n.1213-23T>A) c.1090-23T>A (n.1090-23T>A) c.1030-23T>A (n.1030-23T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24527974T>C | CA2677529426 | ALDH5A1 | c.1174-23T>C (n.1174-23T>C) n.289-23T>C c.793-23T>C (n.793-23T>C) c.1137-23T>C c.1213-23T>C (n.1213-23T>C) c.1090-23T>C (n.1090-23T>C) c.1030-23T>C (n.1030-23T>C) | gnomAD v4 |
6 | g.24527974T= | CA1616534917 | ALDH5A1 | c.1174-23T= (n.1174-23T=) n.289-23T= c.793-23T= (n.793-23T=) c.1137-23T= c.1213-23T= (n.1213-23T=) c.1090-23T= (n.1090-23T=) c.1030-23T= (n.1030-23T=) | |
6 | g.24527980dup | CA1616534916 | ALDH5A1 | c.1174-17dup (n.1174-17dup) n.289-17dup c.793-17dup (n.793-17dup) c.1137-17dup c.1213-17dup (n.1213-17dup) c.1090-17dup (n.1090-17dup) c.1030-17dup (n.1030-17dup) | dbSNP gnomAD v4 |
6 | g.24527980del | CA566286749 | ALDH5A1 | c.1174-17del (n.1174-17del) n.289-17del c.793-17del (n.793-17del) c.1137-17del c.1213-17del (n.1213-17del) c.1090-17del (n.1090-17del) c.1030-17del (n.1030-17del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24527975T>C | CA2578543075 | ALDH5A1 | c.1174-22T>C (n.1174-22T>C) n.289-22T>C c.793-22T>C (n.793-22T>C) c.1137-22T>C c.1213-22T>C (n.1213-22T>C) c.1090-22T>C (n.1090-22T>C) c.1030-22T>C (n.1030-22T>C) | |
6 | g.24527975T>G | CA823302107 | ALDH5A1 | c.1174-22T>G (n.1174-22T>G) n.289-22T>G c.793-22T>G (n.793-22T>G) c.1137-22T>G c.1213-22T>G (n.1213-22T>G) c.1090-22T>G (n.1090-22T>G) c.1030-22T>G (n.1030-22T>G) | dbSNP |
6 | g.24527975T= | CA1616534918 | ALDH5A1 | c.1174-22T= (n.1174-22T=) n.289-22T= c.793-22T= (n.793-22T=) c.1137-22T= c.1213-22T= (n.1213-22T=) c.1090-22T= (n.1090-22T=) c.1030-22T= (n.1030-22T=) | |
6 | g.24527977T>C | CA2677529427 | ALDH5A1 | c.1174-20T>C (n.1174-20T>C) n.289-20T>C c.793-20T>C (n.793-20T>C) c.1137-20T>C c.1213-20T>C (n.1213-20T>C) c.1090-20T>C (n.1090-20T>C) c.1030-20T>C (n.1030-20T>C) | gnomAD v4 |
6 | g.24527980T>C | CA566286751 | ALDH5A1 | c.1174-17T>C (n.1174-17T>C) n.289-17T>C c.793-17T>C (n.793-17T>C) c.1137-17T>C c.1213-17T>C (n.1213-17T>C) c.1090-17T>C (n.1090-17T>C) c.1030-17T>C (n.1030-17T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24527980T= | CA1616534919 | ALDH5A1 | c.1174-17T= (n.1174-17T=) n.289-17T= c.793-17T= (n.793-17T=) c.1137-17T= c.1213-17T= (n.1213-17T=) c.1090-17T= (n.1090-17T=) c.1030-17T= (n.1030-17T=) | |
6 | g.24527981del | CA2677529428 | ALDH5A1 | c.1174-16del (n.1174-16del) n.289-16del c.793-16del (n.793-16del) c.1137-16del c.1213-16del (n.1213-16del) c.1090-16del (n.1090-16del) c.1030-16del (n.1030-16del) | gnomAD v4 |
6 | g.24527981C= | CA1616534920 | ALDH5A1 | c.1174-16C= (n.1174-16C=) n.289-16C= c.793-16C= (n.793-16C=) c.1137-16C= c.1213-16C= (n.1213-16C=) c.1090-16C= (n.1090-16C=) c.1030-16C= (n.1030-16C=) | |
6 | g.24527981C>T | CA566286752 | ALDH5A1 | c.1174-16C>T (n.1174-16C>T) n.289-16C>T c.793-16C>T (n.793-16C>T) c.1137-16C>T c.1213-16C>T (n.1213-16C>T) c.1090-16C>T (n.1090-16C>T) c.1030-16C>T (n.1030-16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.24527982T>C | CA823302119 | ALDH5A1 | c.1174-15T>C (n.1174-15T>C) n.289-15T>C c.793-15T>C (n.793-15T>C) c.1137-15T>C c.1213-15T>C (n.1213-15T>C) c.1090-15T>C (n.1090-15T>C) c.1030-15T>C (n.1030-15T>C) | dbSNP |
6 | g.24527982T= | CA1616534921 | ALDH5A1 | c.1174-15T= (n.1174-15T=) n.289-15T= c.793-15T= (n.793-15T=) c.1137-15T= c.1213-15T= (n.1213-15T=) c.1090-15T= (n.1090-15T=) c.1030-15T= (n.1030-15T=) | |
6 | g.24527983T>G | CA2556847637 | ALDH5A1 | c.1174-14T>G (n.1174-14T>G) n.289-14T>G c.793-14T>G (n.793-14T>G) c.1137-14T>G c.1213-14T>G (n.1213-14T>G) c.1090-14T>G (n.1090-14T>G) c.1030-14T>G (n.1030-14T>G) | |
6 | g.24527985_24527987del | CA2677529429 | ALDH5A1 | c.1174-12_1174-10del (n.1174-12_1174-10del) n.289-12_289-10del c.793-12_793-10del (n.793-12_793-10del) c.1137-12_1137-10del c.1213-12_1213-10del (n.1213-12_1213-10del) c.1090-12_1090-10del (n.1090-12_1090-10del) c.1030-12_1030-10del (n.1030-12_1030-10del) | gnomAD v4 |
6 | g.24527984C= | CA1616534922 | ALDH5A1 | c.1174-13C= (n.1174-13C=) n.289-13C= c.793-13C= (n.793-13C=) c.1137-13C= c.1213-13C= (n.1213-13C=) c.1090-13C= (n.1090-13C=) c.1030-13C= (n.1030-13C=) | |
6 | g.24527984C>T | CA566286753 | ALDH5A1 | c.1174-13C>T (n.1174-13C>T) n.289-13C>T c.793-13C>T (n.793-13C>T) c.1137-13C>T c.1213-13C>T (n.1213-13C>T) c.1090-13C>T (n.1090-13C>T) c.1030-13C>T (n.1030-13C>T) | dbSNP gnomAD v2 |
6 | g.24527985C= | CA1616534923 | ALDH5A1 | c.1174-12C= (n.1174-12C=) n.289-12C= c.793-12C= (n.793-12C=) c.1137-12C= c.1213-12C= (n.1213-12C=) c.1090-12C= (n.1090-12C=) c.1030-12C= (n.1030-12C=) | |
6 | g.24527985C>T | CA3656872 | ALDH5A1 | c.1174-12C>T (n.1174-12C>T) n.289-12C>T c.793-12C>T (n.793-12C>T) c.1137-12C>T c.1213-12C>T (n.1213-12C>T) c.1090-12C>T (n.1090-12C>T) c.1030-12C>T (n.1030-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24527987C= | CA1616534924 | ALDH5A1 | c.1174-10C= (n.1174-10C=) n.289-10C= c.793-10C= (n.793-10C=) c.1137-10C= c.1213-10C= (n.1213-10C=) c.1090-10C= (n.1090-10C=) c.1030-10C= (n.1030-10C=) | |
6 | g.24527987C>T | CA3656873 | ALDH5A1 | c.1174-10C>T (n.1174-10C>T) n.289-10C>T c.793-10C>T (n.793-10C>T) c.1137-10C>T c.1213-10C>T (n.1213-10C>T) c.1090-10C>T (n.1090-10C>T) c.1030-10C>T (n.1030-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24527988A= | CA1616534925 | ALDH5A1 | c.1174-9A= (n.1174-9A=) n.289-9A= c.793-9A= (n.793-9A=) c.1137-9A= c.1213-9A= (n.1213-9A=) c.1090-9A= (n.1090-9A=) c.1030-9A= (n.1030-9A=) | |
6 | g.24527988A>C | CA3656874 | ALDH5A1 | c.1174-9A>C (n.1174-9A>C) n.289-9A>C c.793-9A>C (n.793-9A>C) c.1137-9A>C c.1213-9A>C (n.1213-9A>C) c.1090-9A>C (n.1090-9A>C) c.1030-9A>C (n.1030-9A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24527988A>G | CA2677529430 | ALDH5A1 | c.1174-9A>G (n.1174-9A>G) n.289-9A>G c.793-9A>G (n.793-9A>G) c.1137-9A>G c.1213-9A>G (n.1213-9A>G) c.1090-9A>G (n.1090-9A>G) c.1030-9A>G (n.1030-9A>G) | gnomAD v4 |
6 | g.24527988A>T | CA566286754 | ALDH5A1 | c.1174-9A>T (n.1174-9A>T) n.289-9A>T c.793-9A>T (n.793-9A>T) c.1137-9A>T c.1213-9A>T (n.1213-9A>T) c.1090-9A>T (n.1090-9A>T) c.1030-9A>T (n.1030-9A>T) | dbSNP gnomAD v2 |
6 | g.24527990del | CA2677529431 | ALDH5A1 | c.1174-7del (n.1174-7del) n.289-7del c.793-7del (n.793-7del) c.1137-7del c.1213-7del (n.1213-7del) c.1090-7del (n.1090-7del) c.1030-7del (n.1030-7del) | gnomAD v4 |
6 | g.24527990T>C | CA136139224 | ALDH5A1 | c.1174-7T>C (n.1174-7T>C) n.289-7T>C c.793-7T>C (n.793-7T>C) c.1137-7T>C c.1213-7T>C (n.1213-7T>C) c.1090-7T>C (n.1090-7T>C) c.1030-7T>C (n.1030-7T>C) | ClinVar dbSNP gnomAD v4 |
6 | g.24527990T= | CA1616534926 | ALDH5A1 | c.1174-7T= (n.1174-7T=) n.289-7T= c.793-7T= (n.793-7T=) c.1137-7T= c.1213-7T= (n.1213-7T=) c.1090-7T= (n.1090-7T=) c.1030-7T= (n.1030-7T=) | |
6 | g.24527994C>A | CA2677529432 | ALDH5A1 | c.1174-3C>A (n.1174-3C>A) n.289-3C>A c.793-3C>A (n.793-3C>A) c.1137-3C>A c.1213-3C>A (n.1213-3C>A) c.1090-3C>A (n.1090-3C>A) c.1030-3C>A (n.1030-3C>A) | gnomAD v4 |
6 | g.24527995A>C | CA362977881 | ALDH5A1 | c.1174-2A>C (n.1174-2A>C) n.289-2A>C c.793-2A>C (n.793-2A>C) c.1137-2A>C c.1213-2A>C (n.1213-2A>C) c.1090-2A>C (n.1090-2A>C) c.1030-2A>C (n.1030-2A>C) | |
6 | g.24527995A>G | CA362977882 | ALDH5A1 | c.1174-2A>G (n.1174-2A>G) n.289-2A>G c.793-2A>G (n.793-2A>G) c.1137-2A>G c.1213-2A>G (n.1213-2A>G) c.1090-2A>G (n.1090-2A>G) c.1030-2A>G (n.1030-2A>G) | |
6 | g.24527995A>T | CA362977885 | ALDH5A1 | c.1174-2A>T (n.1174-2A>T) n.289-2A>T c.793-2A>T (n.793-2A>T) c.1137-2A>T c.1213-2A>T (n.1213-2A>T) c.1090-2A>T (n.1090-2A>T) c.1030-2A>T (n.1030-2A>T) | |
6 | g.24527996G>A | CA362977888 | ALDH5A1 | c.1174-1G>A (n.1174-1G>A) n.289-1G>A c.793-1G>A (n.793-1G>A) c.1137-1G>A c.1213-1G>A (n.1213-1G>A) c.1090-1G>A (n.1090-1G>A) c.1030-1G>A (n.1030-1G>A) | |
6 | g.24527996G>C | CA362977887 | ALDH5A1 | c.1174-1G>C (n.1174-1G>C) n.289-1G>C c.793-1G>C (n.793-1G>C) c.1137-1G>C c.1213-1G>C (n.1213-1G>C) c.1090-1G>C (n.1090-1G>C) c.1030-1G>C (n.1030-1G>C) | |
6 | g.24527996G>T | CA362977886 | ALDH5A1 | c.1174-1G>T (n.1174-1G>T) n.289-1G>T c.793-1G>T (n.793-1G>T) c.1137-1G>T c.1213-1G>T (n.1213-1G>T) c.1090-1G>T (n.1090-1G>T) c.1030-1G>T (n.1030-1G>T) | |
6 | g.24527997G>A | CA3656875 | ALDH5A1 | c.1174G>A (p.Val392Met) n.289G>A c.793G>A (p.Val265Met) c.1137G>A c.1213G>A (p.Val405Met) c.1090G>A (p.Val364Met) c.1030G>A (p.Val344Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24527997G>C | CA362977890 | ALDH5A1 | c.1174G>C (p.Val392Leu) n.289G>C c.793G>C (p.Val265Leu) c.1137G>C c.1213G>C (p.Val405Leu) c.1090G>C (p.Val364Leu) c.1030G>C (p.Val344Leu) | |
6 | g.24527997G= | CA1616534927 | ALDH5A1 | c.1174G= (p.Val392=) n.289G= c.793G= (p.Val265=) c.1137G= c.1213G= (p.Val405=) c.1090G= (p.Val364=) c.1030G= (p.Val344=) | |
6 | g.24527997G>T | CA362977891 | ALDH5A1 | c.1174G>T (p.Val392Leu) n.289G>T c.793G>T (p.Val265Leu) c.1137G>T c.1213G>T (p.Val405Leu) c.1090G>T (p.Val364Leu) c.1030G>T (p.Val344Leu) | gnomAD v4 |
6 | g.24527998T>A | CA362977892 | ALDH5A1 | c.1175T>A (p.Val392Glu) n.290T>A c.794T>A (p.Val265Glu) c.1138T>A c.1214T>A (p.Val405Glu) c.1091T>A (p.Val364Glu) c.1031T>A (p.Val344Glu) | |
6 | g.24527998T>C | CA362977893 | ALDH5A1 | c.1175T>C (p.Val392Ala) n.290T>C c.794T>C (p.Val265Ala) c.1138T>C c.1214T>C (p.Val405Ala) c.1091T>C (p.Val364Ala) c.1031T>C (p.Val344Ala) | |
6 | g.24527998T>G | CA362977894 | ALDH5A1 | c.1175T>G (p.Val392Gly) n.290T>G c.794T>G (p.Val265Gly) c.1138T>G c.1214T>G (p.Val405Gly) c.1091T>G (p.Val364Gly) c.1031T>G (p.Val344Gly) | |
6 | g.24527999G>A | CA448787385 | ALDH5A1 | c.1176G>A (p.Val392=) n.291G>A c.795G>A (p.Val265=) c.1139G>A c.1215G>A (p.Val405=) c.1092G>A (p.Val364=) c.1032G>A (p.Val344=) | ClinVar |
6 | g.24527999G>C | CA448787387 | ALDH5A1 | c.1176G>C (p.Val392=) n.291G>C c.795G>C (p.Val265=) c.1139G>C c.1215G>C (p.Val405=) c.1092G>C (p.Val364=) c.1032G>C (p.Val344=) | |
6 | g.24527999G>T | CA448787388 | ALDH5A1 | c.1176G>T (p.Val392=) n.291G>T c.795G>T (p.Val265=) c.1139G>T c.1215G>T (p.Val405=) c.1092G>T (p.Val364=) c.1032G>T (p.Val344=) | |
6 | g.24528000G>A | CA362977897 | ALDH5A1 | c.1177G>A (p.Glu393Lys) n.292G>A c.796G>A (p.Glu266Lys) c.1140G>A c.1216G>A (p.Glu406Lys) c.1093G>A (p.Glu365Lys) c.1033G>A (p.Glu345Lys) | |
6 | g.24528000G>C | CA362977895 | ALDH5A1 | c.1177G>C (p.Glu393Gln) n.292G>C c.796G>C (p.Glu266Gln) c.1140G>C c.1216G>C (p.Glu406Gln) c.1093G>C (p.Glu365Gln) c.1033G>C (p.Glu345Gln) | gnomAD v4 |
6 | g.24528000G>T | CA362977896 | ALDH5A1 | c.1177G>T (p.Glu393Ter) n.292G>T c.796G>T (p.Glu266Ter) c.1140G>T c.1216G>T (p.Glu406Ter) c.1093G>T (p.Glu365Ter) c.1033G>T (p.Glu345Ter) | |
6 | g.24528001A= | CA1616534928 | ALDH5A1 | c.1178A= (p.Glu393=) n.293A= c.797A= (p.Glu266=) c.1141A= c.1217A= (p.Glu406=) c.1094A= (p.Glu365=) c.1034A= (p.Glu345=) | |
6 | g.24528001A>C | CA362977898 | ALDH5A1 | c.1178A>C (p.Glu393Ala) n.293A>C c.797A>C (p.Glu266Ala) c.1141A>C c.1217A>C (p.Glu406Ala) c.1094A>C (p.Glu365Ala) c.1034A>C (p.Glu345Ala) | |
6 | g.24528001A>G | CA362977899 | ALDH5A1 | c.1178A>G (p.Glu393Gly) n.293A>G c.797A>G (p.Glu266Gly) c.1141A>G c.1217A>G (p.Glu406Gly) c.1094A>G (p.Glu365Gly) c.1034A>G (p.Glu345Gly) | |
6 | g.24528001A>T | CA362977900 | ALDH5A1 | c.1178A>T (p.Glu393Val) n.293A>T c.797A>T (p.Glu266Val) c.1141A>T c.1217A>T (p.Glu406Val) c.1094A>T (p.Glu365Val) c.1034A>T (p.Glu345Val) | |
6 | g.24528002G>A | CA448787390 | ALDH5A1 | c.1179G>A (p.Glu393=) n.294G>A c.798G>A (p.Glu266=) c.1142G>A c.1218G>A (p.Glu406=) c.1095G>A (p.Glu365=) c.1035G>A (p.Glu345=) | |
6 | g.24528002G>C | CA362977901 | ALDH5A1 | c.1179G>C (p.Glu393Asp) n.294G>C c.798G>C (p.Glu266Asp) c.1142G>C c.1218G>C (p.Glu406Asp) c.1095G>C (p.Glu365Asp) c.1035G>C (p.Glu345Asp) | |
6 | g.24528002G>T | CA362977902 | ALDH5A1 | c.1179G>T (p.Glu393Asp) n.294G>T c.798G>T (p.Glu266Asp) c.1142G>T c.1218G>T (p.Glu406Asp) c.1095G>T (p.Glu365Asp) c.1035G>T (p.Glu345Asp) | |
6 | g.24528002dup | CA1616534929 | ALDH5A1 | c.1179dup (p.Lys394GlufsTer5) n.294dup c.798dup (p.Lys267GlufsTer5) c.1142dup c.1218dup (p.Lys407GlufsTer5) c.1095dup (p.Lys366GlufsTer5) c.1035dup (p.Lys346GlufsTer5) | dbSNP |
6 | g.24528003A>C | CA362977903 | ALDH5A1 | c.1180A>C (p.Lys394Gln) n.295A>C c.799A>C (p.Lys267Gln) c.1143A>C c.1219A>C (p.Lys407Gln) c.1096A>C (p.Lys366Gln) c.1036A>C (p.Lys346Gln) | |
6 | g.24528003A>G | CA362977905 | ALDH5A1 | c.1180A>G (p.Lys394Glu) n.295A>G c.799A>G (p.Lys267Glu) c.1143A>G c.1219A>G (p.Lys407Glu) c.1096A>G (p.Lys366Glu) c.1036A>G (p.Lys346Glu) | |
6 | g.24528003A>T | CA362977904 | ALDH5A1 | c.1180A>T (p.Lys394Ter) n.295A>T c.799A>T (p.Lys267Ter) c.1143A>T c.1219A>T (p.Lys407Ter) c.1096A>T (p.Lys366Ter) c.1036A>T (p.Lys346Ter) | |
6 | g.24528004A>C | CA362977906 | ALDH5A1 | c.1181A>C (p.Lys394Thr) n.296A>C c.800A>C (p.Lys267Thr) c.1144A>C c.1220A>C (p.Lys407Thr) c.1097A>C (p.Lys366Thr) c.1037A>C (p.Lys346Thr) | |
6 | g.24528004A>G | CA362977907 | ALDH5A1 | c.1181A>G (p.Lys394Arg) n.296A>G c.800A>G (p.Lys267Arg) c.1144A>G c.1220A>G (p.Lys407Arg) c.1097A>G (p.Lys366Arg) c.1037A>G (p.Lys346Arg) | |
6 | g.24528004A>T | CA362977910 | ALDH5A1 | c.1181A>T (p.Lys394Ile) n.296A>T c.800A>T (p.Lys267Ile) c.1144A>T c.1220A>T (p.Lys407Ile) c.1097A>T (p.Lys366Ile) c.1037A>T (p.Lys346Ile) | |
6 | g.24528005A>C | CA362977916 | ALDH5A1 | c.1182A>C (p.Lys394Asn) n.297A>C c.801A>C (p.Lys267Asn) c.1145A>C c.1221A>C (p.Lys407Asn) c.1098A>C (p.Lys366Asn) c.1038A>C (p.Lys346Asn) | |
6 | g.24528005A>G | CA448787397 | ALDH5A1 | c.1182A>G (p.Lys394=) n.297A>G c.801A>G (p.Lys267=) c.1145A>G c.1221A>G (p.Lys407=) c.1098A>G (p.Lys366=) c.1038A>G (p.Lys346=) | |
6 | g.24528005A>T | CA362977918 | ALDH5A1 | c.1182A>T (p.Lys394Asn) n.297A>T c.801A>T (p.Lys267Asn) c.1145A>T c.1221A>T (p.Lys407Asn) c.1098A>T (p.Lys366Asn) c.1038A>T (p.Lys346Asn) | |
6 | g.24528006C>A | CA362977922 | ALDH5A1 | c.1183C>A (p.Gln395Lys) n.298C>A c.802C>A (p.Gln268Lys) c.1146C>A c.1222C>A (p.Gln408Lys) c.1099C>A (p.Gln367Lys) c.1039C>A (p.Gln347Lys) | |
6 | g.24528006C>G | CA362977929 | ALDH5A1 | c.1183C>G (p.Gln395Glu) n.298C>G c.802C>G (p.Gln268Glu) c.1146C>G c.1222C>G (p.Gln408Glu) c.1099C>G (p.Gln367Glu) c.1039C>G (p.Gln347Glu) | |
6 | g.24528006C>T | CA362977930 | ALDH5A1 | c.1183C>T (p.Gln395Ter) n.298C>T c.802C>T (p.Gln268Ter) c.1146C>T c.1222C>T (p.Gln408Ter) c.1099C>T (p.Gln367Ter) c.1039C>T (p.Gln347Ter) | |
6 | g.24528007A= | CA1616534930 | ALDH5A1 | c.1184A= (p.Gln395=) n.299A= c.803A= (p.Gln268=) c.1147A= c.1223A= (p.Gln408=) c.1100A= (p.Gln367=) c.1040A= (p.Gln347=) | |
6 | g.24528007A>C | CA362977932 | ALDH5A1 | c.1184A>C (p.Gln395Pro) n.299A>C c.803A>C (p.Gln268Pro) c.1147A>C c.1223A>C (p.Gln408Pro) c.1100A>C (p.Gln367Pro) c.1040A>C (p.Gln347Pro) | gnomAD v4 |
6 | g.24528007A>G | CA3656876 | ALDH5A1 | c.1184A>G (p.Gln395Arg) n.299A>G c.803A>G (p.Gln268Arg) c.1147A>G c.1223A>G (p.Gln408Arg) c.1100A>G (p.Gln367Arg) c.1040A>G (p.Gln347Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528007A>T | CA362977946 | ALDH5A1 | c.1184A>T (p.Gln395Leu) n.299A>T c.803A>T (p.Gln268Leu) c.1147A>T c.1223A>T (p.Gln408Leu) c.1100A>T (p.Gln367Leu) c.1040A>T (p.Gln347Leu) | |
6 | g.24528008G>A | CA448787403 | ALDH5A1 | c.1185G>A (p.Gln395=) n.300G>A c.804G>A (p.Gln268=) c.1148G>A c.1224G>A (p.Gln408=) c.1101G>A (p.Gln367=) c.1041G>A (p.Gln347=) | |
6 | g.24528008G>C | CA362977950 | ALDH5A1 | c.1185G>C (p.Gln395His) n.300G>C c.804G>C (p.Gln268His) c.1148G>C c.1224G>C (p.Gln408His) c.1101G>C (p.Gln367His) c.1041G>C (p.Gln347His) | gnomAD v4 |
6 | g.24528008G= | CA1616534931 | ALDH5A1 | c.1185G= (p.Gln395=) n.300G= c.804G= (p.Gln268=) c.1148G= c.1224G= (p.Gln408=) c.1101G= (p.Gln367=) c.1041G= (p.Gln347=) | |
6 | g.24528008G>T | CA362977948 | ALDH5A1 | c.1185G>T (p.Gln395His) n.300G>T c.804G>T (p.Gln268His) c.1148G>T c.1224G>T (p.Gln408His) c.1101G>T (p.Gln367His) c.1041G>T (p.Gln347His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24528009G>A | CA3656877 | ALDH5A1 | c.1186G>A (p.Val396Met) n.301G>A c.805G>A (p.Val269Met) c.1149G>A c.1225G>A (p.Val409Met) c.1102G>A (p.Val368Met) c.1042G>A (p.Val348Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528009G>C | CA362977953 | ALDH5A1 | c.1186G>C (p.Val396Leu) n.301G>C c.805G>C (p.Val269Leu) c.1149G>C c.1225G>C (p.Val409Leu) c.1102G>C (p.Val368Leu) c.1042G>C (p.Val348Leu) | |
6 | g.24528009G= | CA1616534932 | ALDH5A1 | c.1186G= (p.Val396=) n.301G= c.805G= (p.Val269=) c.1149G= c.1225G= (p.Val409=) c.1102G= (p.Val368=) c.1042G= (p.Val348=) | |
6 | g.24528009G>T | CA362977952 | ALDH5A1 | c.1186G>T (p.Val396Leu) n.301G>T c.805G>T (p.Val269Leu) c.1149G>T c.1225G>T (p.Val409Leu) c.1102G>T (p.Val368Leu) c.1042G>T (p.Val348Leu) | |
6 | g.24528010T>A | CA362977958 | ALDH5A1 | c.1187T>A (p.Val396Glu) n.302T>A c.806T>A (p.Val269Glu) c.1150T>A c.1226T>A (p.Val409Glu) c.1103T>A (p.Val368Glu) c.1043T>A (p.Val348Glu) | |
6 | g.24528010T>C | CA362977964 | ALDH5A1 | c.1187T>C (p.Val396Ala) n.302T>C c.806T>C (p.Val269Ala) c.1150T>C c.1226T>C (p.Val409Ala) c.1103T>C (p.Val368Ala) c.1043T>C (p.Val348Ala) | |
6 | g.24528010T>G | CA362977966 | ALDH5A1 | c.1187T>G (p.Val396Gly) n.302T>G c.806T>G (p.Val269Gly) c.1150T>G c.1226T>G (p.Val409Gly) c.1103T>G (p.Val368Gly) c.1043T>G (p.Val348Gly) | |
6 | g.24528011G>A | CA3656878 | ALDH5A1 | c.1188G>A (p.Val396=) n.303G>A c.807G>A (p.Val269=) c.1151G>A c.1227G>A (p.Val409=) c.1104G>A (p.Val368=) c.1044G>A (p.Val348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528011G>C | CA448787408 | ALDH5A1 | c.1188G>C (p.Val396=) n.303G>C c.807G>C (p.Val269=) c.1151G>C c.1227G>C (p.Val409=) c.1104G>C (p.Val368=) c.1044G>C (p.Val348=) | |
6 | g.24528011G= | CA1616534933 | ALDH5A1 | c.1188G= (p.Val396=) n.303G= c.807G= (p.Val269=) c.1151G= c.1227G= (p.Val409=) c.1104G= (p.Val368=) c.1044G= (p.Val348=) | |
6 | g.24528011G>T | CA448787410 | ALDH5A1 | c.1188G>T (p.Val396=) n.303G>T c.807G>T (p.Val269=) c.1151G>T c.1227G>T (p.Val409=) c.1104G>T (p.Val368=) c.1044G>T (p.Val348=) | |
6 | g.24528012A>C | CA362977969 | ALDH5A1 | c.1189A>C (p.Asn397His) n.304A>C c.808A>C (p.Asn270His) c.1152A>C c.1228A>C (p.Asn410His) c.1105A>C (p.Asn369His) c.1045A>C (p.Asn349His) | |
6 | g.24528012A>G | CA362977972 | ALDH5A1 | c.1189A>G (p.Asn397Asp) n.304A>G c.808A>G (p.Asn270Asp) c.1152A>G c.1228A>G (p.Asn410Asp) c.1105A>G (p.Asn369Asp) c.1045A>G (p.Asn349Asp) | gnomAD v4 |
6 | g.24528012A>T | CA362977974 | ALDH5A1 | c.1189A>T (p.Asn397Tyr) n.304A>T c.808A>T (p.Asn270Tyr) c.1152A>T c.1228A>T (p.Asn410Tyr) c.1105A>T (p.Asn369Tyr) c.1045A>T (p.Asn349Tyr) | |
6 | g.24528013A>C | CA362977978 | ALDH5A1 | c.1190A>C (p.Asn397Thr) n.305A>C c.809A>C (p.Asn270Thr) c.1153A>C c.1229A>C (p.Asn410Thr) c.1106A>C (p.Asn369Thr) c.1046A>C (p.Asn349Thr) | |
6 | g.24528013A>G | CA362977975 | ALDH5A1 | c.1190A>G (p.Asn397Ser) n.305A>G c.809A>G (p.Asn270Ser) c.1153A>G c.1229A>G (p.Asn410Ser) c.1106A>G (p.Asn369Ser) c.1046A>G (p.Asn349Ser) | |
6 | g.24528013A>T | CA362977977 | ALDH5A1 | c.1190A>T (p.Asn397Ile) n.305A>T c.809A>T (p.Asn270Ile) c.1153A>T c.1229A>T (p.Asn410Ile) c.1106A>T (p.Asn369Ile) c.1046A>T (p.Asn349Ile) | |
6 | g.24528014T>A | CA362977981 | ALDH5A1 | c.1191T>A (p.Asn397Lys) n.306T>A c.810T>A (p.Asn270Lys) c.1154T>A c.1230T>A (p.Asn410Lys) c.1107T>A (p.Asn369Lys) c.1047T>A (p.Asn349Lys) | |
6 | g.24528014T>C | CA448787416 | ALDH5A1 | c.1191T>C (p.Asn397=) n.306T>C c.810T>C (p.Asn270=) c.1154T>C c.1230T>C (p.Asn410=) c.1107T>C (p.Asn369=) c.1047T>C (p.Asn349=) | |
6 | g.24528014T>G | CA136139251 | ALDH5A1 | c.1191T>G (p.Asn397Lys) n.306T>G c.810T>G (p.Asn270Lys) c.1154T>G c.1230T>G (p.Asn410Lys) c.1107T>G (p.Asn369Lys) c.1047T>G (p.Asn349Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528014T= | CA1616534934 | ALDH5A1 | c.1191T= (p.Asn397=) n.306T= c.810T= (p.Asn270=) c.1154T= c.1230T= (p.Asn410=) c.1107T= (p.Asn369=) c.1047T= (p.Asn349=) | |
6 | g.24528015G>A | CA362977982 | ALDH5A1 | c.1192G>A (p.Asp398Asn) n.307G>A c.811G>A (p.Asp271Asn) c.1155G>A c.1231G>A (p.Asp411Asn) c.1108G>A (p.Asp370Asn) c.1048G>A (p.Asp350Asn) | |
6 | g.24528015G>C | CA136139254 | ALDH5A1 | c.1192G>C (p.Asp398His) n.307G>C c.811G>C (p.Asp271His) c.1155G>C c.1231G>C (p.Asp411His) c.1108G>C (p.Asp370His) c.1048G>C (p.Asp350His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528015G= | CA1616534935 | ALDH5A1 | c.1192G= (p.Asp398=) n.307G= c.811G= (p.Asp271=) c.1155G= c.1231G= (p.Asp411=) c.1108G= (p.Asp370=) c.1048G= (p.Asp350=) | |
6 | g.24528015G>T | CA362977983 | ALDH5A1 | c.1192G>T (p.Asp398Tyr) n.307G>T c.811G>T (p.Asp271Tyr) c.1155G>T c.1231G>T (p.Asp411Tyr) c.1108G>T (p.Asp370Tyr) c.1048G>T (p.Asp350Tyr) | |
6 | g.24528016A>C | CA362977985 | ALDH5A1 | c.1193A>C (p.Asp398Ala) n.308A>C c.812A>C (p.Asp271Ala) c.1156A>C c.1232A>C (p.Asp411Ala) c.1109A>C (p.Asp370Ala) c.1049A>C (p.Asp350Ala) | |
6 | g.24528016A>G | CA362977988 | ALDH5A1 | c.1193A>G (p.Asp398Gly) n.308A>G c.812A>G (p.Asp271Gly) c.1156A>G c.1232A>G (p.Asp411Gly) c.1109A>G (p.Asp370Gly) c.1049A>G (p.Asp350Gly) | |
6 | g.24528016A>T | CA362977986 | ALDH5A1 | c.1193A>T (p.Asp398Val) n.308A>T c.812A>T (p.Asp271Val) c.1156A>T c.1232A>T (p.Asp411Val) c.1109A>T (p.Asp370Val) c.1049A>T (p.Asp350Val) | |
6 | g.24528017del | CA645560208 | ALDH5A1 | c.1194del (p.Asp398GlufsTer10) n.309del c.813del (p.Asp271GlufsTer10) c.1157del c.1233del (p.Asp411GlufsTer10) c.1110del (p.Asp370GlufsTer10) c.1050del (p.Asp350GlufsTer10) | COSMIC |
6 | g.24528017T>A | CA362977990 | ALDH5A1 | c.1194T>A (p.Asp398Glu) n.309T>A c.813T>A (p.Asp271Glu) c.1157T>A c.1233T>A (p.Asp411Glu) c.1110T>A (p.Asp370Glu) c.1050T>A (p.Asp350Glu) | |
6 | g.24528017T>C | CA448787421 | ALDH5A1 | c.1194T>C (p.Asp398=) n.309T>C c.813T>C (p.Asp271=) c.1157T>C c.1233T>C (p.Asp411=) c.1110T>C (p.Asp370=) c.1050T>C (p.Asp350=) | |
6 | g.24528017T>G | CA362977992 | ALDH5A1 | c.1194T>G (p.Asp398Glu) n.309T>G c.813T>G (p.Asp271Glu) c.1157T>G c.1233T>G (p.Asp411Glu) c.1110T>G (p.Asp370Glu) c.1050T>G (p.Asp350Glu) | |
6 | g.24528018G>A | CA362977994 | ALDH5A1 | c.1195G>A (p.Ala399Thr) n.310G>A c.814G>A (p.Ala272Thr) c.1158G>A c.1234G>A (p.Ala412Thr) c.1111G>A (p.Ala371Thr) c.1051G>A (p.Ala351Thr) | gnomAD v4 |
6 | g.24528018G>C | CA362977997 | ALDH5A1 | c.1195G>C (p.Ala399Pro) n.310G>C c.814G>C (p.Ala272Pro) c.1158G>C c.1234G>C (p.Ala412Pro) c.1111G>C (p.Ala371Pro) c.1051G>C (p.Ala351Pro) | |
6 | g.24528018G>T | CA362977998 | ALDH5A1 | c.1195G>T (p.Ala399Ser) n.310G>T c.814G>T (p.Ala272Ser) c.1158G>T c.1234G>T (p.Ala412Ser) c.1111G>T (p.Ala371Ser) c.1051G>T (p.Ala351Ser) | |
6 | g.24528019C>A | CA362978000 | ALDH5A1 | c.1196C>A (p.Ala399Asp) n.311C>A c.815C>A (p.Ala272Asp) c.1159C>A c.1235C>A (p.Ala412Asp) c.1112C>A (p.Ala371Asp) c.1052C>A (p.Ala351Asp) | |
6 | g.24528019C>G | CA362978002 | ALDH5A1 | c.1196C>G (p.Ala399Gly) n.311C>G c.815C>G (p.Ala272Gly) c.1159C>G c.1235C>G (p.Ala412Gly) c.1112C>G (p.Ala371Gly) c.1052C>G (p.Ala351Gly) | |
6 | g.24528019C>T | CA362978004 | ALDH5A1 | c.1196C>T (p.Ala399Val) n.311C>T c.815C>T (p.Ala272Val) c.1159C>T c.1235C>T (p.Ala412Val) c.1112C>T (p.Ala371Val) c.1052C>T (p.Ala351Val) | |
6 | g.24528024_24528041del | CA2677529433 | ALDH5A1 | c.1201_1218del (p.Ser401_Val406del) n.316_333del c.820_837del (p.Ser274_Val279del) c.1164_1181del c.1240_1257del (p.Ser414_Val419del) c.1117_1134del (p.Ser373_Val378del) c.1057_1074del (p.Ser353_Val358del) | gnomAD v4 |
6 | g.24528020C>A | CA3656879 | ALDH5A1 | c.1197C>A (p.Ala399=) n.312C>A c.816C>A (p.Ala272=) c.1160C>A c.1236C>A (p.Ala412=) c.1113C>A (p.Ala371=) c.1053C>A (p.Ala351=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24528020C= | CA1616534936 | ALDH5A1 | c.1197C= (p.Ala399=) n.312C= c.816C= (p.Ala272=) c.1160C= c.1236C= (p.Ala412=) c.1113C= (p.Ala371=) c.1053C= (p.Ala351=) | |
6 | g.24528020C>G | CA448787428 | ALDH5A1 | c.1197C>G (p.Ala399=) n.312C>G c.816C>G (p.Ala272=) c.1160C>G c.1236C>G (p.Ala412=) c.1113C>G (p.Ala371=) c.1053C>G (p.Ala351=) | |
6 | g.24528020C>T | CA448787427 | ALDH5A1 | c.1197C>T (p.Ala399=) n.312C>T c.816C>T (p.Ala272=) c.1160C>T c.1236C>T (p.Ala412=) c.1113C>T (p.Ala371=) c.1053C>T (p.Ala351=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.24528021G>A | CA3656880 | ALDH5A1 | c.1198G>A (p.Val400Ile) n.313G>A c.817G>A (p.Val273Ile) c.1161G>A c.1237G>A (p.Val413Ile) c.1114G>A (p.Val372Ile) c.1054G>A (p.Val352Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.24528021G>C | CA362978012 | ALDH5A1 | c.1198G>C (p.Val400Leu) n.313G>C c.817G>C (p.Val273Leu) c.1161G>C c.1237G>C (p.Val413Leu) c.1114G>C (p.Val372Leu) c.1054G>C (p.Val352Leu) | |
6 | g.24528021G= | CA1616534937 | ALDH5A1 | c.1198G= (p.Val400=) n.313G= c.817G= (p.Val273=) c.1161G= c.1237G= (p.Val413=) c.1114G= (p.Val372=) c.1054G= (p.Val352=) | |
6 | g.24528021G>T | CA362978013 | ALDH5A1 | c.1198G>T (p.Val400Phe) n.313G>T c.817G>T (p.Val273Phe) c.1161G>T c.1237G>T (p.Val413Phe) c.1114G>T (p.Val372Phe) c.1054G>T (p.Val352Phe) | |
6 | g.24528022T>A | CA3656881 | ALDH5A1 | c.1199T>A (p.Val400Asp) n.314T>A c.818T>A (p.Val273Asp) c.1162T>A c.1238T>A (p.Val413Asp) c.1115T>A (p.Val372Asp) c.1055T>A (p.Val352Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24528022T>C | CA362978016 | ALDH5A1 | c.1199T>C (p.Val400Ala) n.314T>C c.818T>C (p.Val273Ala) c.1162T>C c.1238T>C (p.Val413Ala) c.1115T>C (p.Val372Ala) c.1055T>C (p.Val352Ala) | |
6 | g.24528022T>G | CA362978014 | ALDH5A1 | c.1199T>G (p.Val400Gly) n.314T>G c.818T>G (p.Val273Gly) c.1162T>G c.1238T>G (p.Val413Gly) c.1115T>G (p.Val372Gly) c.1055T>G (p.Val352Gly) | |
6 | g.24528022T= | CA1616534938 | ALDH5A1 | c.1199T= (p.Val400=) n.314T= c.818T= (p.Val273=) c.1162T= c.1238T= (p.Val413=) c.1115T= (p.Val372=) c.1055T= (p.Val352=) | |
6 | g.24528023T>A | CA448787434 | ALDH5A1 | c.1200T>A (p.Val400=) n.315T>A c.819T>A (p.Val273=) c.1163T>A c.1239T>A (p.Val413=) c.1116T>A (p.Val372=) c.1056T>A (p.Val352=) | |
6 | g.24528023T>C | CA448787436 | ALDH5A1 | c.1200T>C (p.Val400=) n.315T>C c.819T>C (p.Val273=) c.1163T>C c.1239T>C (p.Val413=) c.1116T>C (p.Val372=) c.1056T>C (p.Val352=) | |
6 | g.24528023T>G | CA448787437 | ALDH5A1 | c.1200T>G (p.Val400=) n.315T>G c.819T>G (p.Val273=) c.1163T>G c.1239T>G (p.Val413=) c.1116T>G (p.Val372=) c.1056T>G (p.Val352=) | |
6 | g.24528024T>A | CA362978018 | ALDH5A1 | c.1201T>A (p.Ser401Thr) n.316T>A c.820T>A (p.Ser274Thr) c.1164T>A c.1240T>A (p.Ser414Thr) c.1117T>A (p.Ser373Thr) c.1057T>A (p.Ser353Thr) | |
6 | g.24528024T>C | CA362978020 | ALDH5A1 | c.1201T>C (p.Ser401Pro) n.316T>C c.820T>C (p.Ser274Pro) c.1164T>C c.1240T>C (p.Ser414Pro) c.1117T>C (p.Ser373Pro) c.1057T>C (p.Ser353Pro) | |
6 | g.24528024T>G | CA362978022 | ALDH5A1 | c.1201T>G (p.Ser401Ala) n.316T>G c.820T>G (p.Ser274Ala) c.1164T>G c.1240T>G (p.Ser414Ala) c.1117T>G (p.Ser373Ala) c.1057T>G (p.Ser353Ala) | |
6 | g.24528025C>A | CA362978024 | ALDH5A1 | c.1202C>A (p.Ser401Tyr) n.317C>A c.821C>A (p.Ser274Tyr) c.1165C>A c.1241C>A (p.Ser414Tyr) c.1118C>A (p.Ser373Tyr) c.1058C>A (p.Ser353Tyr) | |
6 | g.24528025C>G | CA362978028 | ALDH5A1 | c.1202C>G (p.Ser401Cys) n.317C>G c.821C>G (p.Ser274Cys) c.1165C>G c.1241C>G (p.Ser414Cys) c.1118C>G (p.Ser373Cys) c.1058C>G (p.Ser353Cys) | |
6 | g.24528025C>T | CA362978031 | ALDH5A1 | c.1202C>T (p.Ser401Phe) n.317C>T c.821C>T (p.Ser274Phe) c.1165C>T c.1241C>T (p.Ser414Phe) c.1118C>T (p.Ser373Phe) c.1058C>T (p.Ser353Phe) | |
6 | g.24528026T>A | CA448787443 | ALDH5A1 | c.1203T>A (p.Ser401=) n.318T>A c.822T>A (p.Ser274=) c.1166T>A c.1242T>A (p.Ser414=) c.1119T>A (p.Ser373=) c.1059T>A (p.Ser353=) | |
6 | g.24528026T>C | CA448787444 | ALDH5A1 | c.1203T>C (p.Ser401=) n.318T>C c.822T>C (p.Ser274=) c.1166T>C c.1242T>C (p.Ser414=) c.1119T>C (p.Ser373=) c.1059T>C (p.Ser353=) | |
6 | g.24528026T>G | CA448787446 | ALDH5A1 | c.1203T>G (p.Ser401=) n.318T>G c.822T>G (p.Ser274=) c.1166T>G c.1242T>G (p.Ser414=) c.1119T>G (p.Ser373=) c.1059T>G (p.Ser353=) | |
6 | g.24528027A>C | CA362978036 | ALDH5A1 | c.1204A>C (p.Lys402Gln) n.319A>C c.823A>C (p.Lys275Gln) c.1167A>C c.1243A>C (p.Lys415Gln) c.1120A>C (p.Lys374Gln) c.1060A>C (p.Lys354Gln) | |
6 | g.24528027A>G | CA362978039 | ALDH5A1 | c.1204A>G (p.Lys402Glu) n.319A>G c.823A>G (p.Lys275Glu) c.1167A>G c.1243A>G (p.Lys415Glu) c.1120A>G (p.Lys374Glu) c.1060A>G (p.Lys354Glu) | |
6 | g.24528027A>T | CA362978044 | ALDH5A1 | c.1204A>T (p.Lys402Ter) n.319A>T c.823A>T (p.Lys275Ter) c.1167A>T c.1243A>T (p.Lys415Ter) c.1120A>T (p.Lys374Ter) c.1060A>T (p.Lys354Ter) | |
6 | g.24528028A>C | CA362978050 | ALDH5A1 | c.1205A>C (p.Lys402Thr) n.320A>C c.824A>C (p.Lys275Thr) c.1168A>C c.1244A>C (p.Lys415Thr) c.1121A>C (p.Lys374Thr) c.1061A>C (p.Lys354Thr) | |
6 | g.24528028A>G | CA362978052 | ALDH5A1 | c.1205A>G (p.Lys402Arg) n.320A>G c.824A>G (p.Lys275Arg) c.1168A>G c.1244A>G (p.Lys415Arg) c.1121A>G (p.Lys374Arg) c.1061A>G (p.Lys354Arg) | |
6 | g.24528028A>T | CA362978054 | ALDH5A1 | c.1205A>T (p.Lys402Ile) n.320A>T c.824A>T (p.Lys275Ile) c.1168A>T c.1244A>T (p.Lys415Ile) c.1121A>T (p.Lys374Ile) c.1061A>T (p.Lys354Ile) | |
6 | g.24528029A>C | CA362978059 | ALDH5A1 | c.1206A>C (p.Lys402Asn) n.321A>C c.825A>C (p.Lys275Asn) c.1169A>C c.1245A>C (p.Lys415Asn) c.1122A>C (p.Lys374Asn) c.1062A>C (p.Lys354Asn) | |
6 | g.24528029A>G | CA448787450 | ALDH5A1 | c.1206A>G (p.Lys402=) n.321A>G c.825A>G (p.Lys275=) c.1169A>G c.1245A>G (p.Lys415=) c.1122A>G (p.Lys374=) c.1062A>G (p.Lys354=) | |
6 | g.24528029A>T | CA362978056 | ALDH5A1 | c.1206A>T (p.Lys402Asn) n.321A>T c.825A>T (p.Lys275Asn) c.1169A>T c.1245A>T (p.Lys415Asn) c.1122A>T (p.Lys374Asn) c.1062A>T (p.Lys354Asn) | |
6 | g.24528030G>A | CA362978062 | ALDH5A1 | c.1207G>A (p.Gly403Ser) n.322G>A c.826G>A (p.Gly276Ser) c.1170G>A c.1246G>A (p.Gly416Ser) c.1123G>A (p.Gly375Ser) c.1063G>A (p.Gly355Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24528030G>C | CA362978063 | ALDH5A1 | c.1207G>C (p.Gly403Arg) n.322G>C c.826G>C (p.Gly276Arg) c.1170G>C c.1246G>C (p.Gly416Arg) c.1123G>C (p.Gly375Arg) c.1063G>C (p.Gly355Arg) | dbSNP gnomAD v4 |
6 | g.24528030G= | CA1616534939 | ALDH5A1 | c.1207G= (p.Gly403=) n.322G= c.826G= (p.Gly276=) c.1170G= c.1246G= (p.Gly416=) c.1123G= (p.Gly375=) c.1063G= (p.Gly355=) | |
6 | g.24528030G>T | CA362978064 | ALDH5A1 | c.1207G>T (p.Gly403Cys) n.322G>T c.826G>T (p.Gly276Cys) c.1170G>T c.1246G>T (p.Gly416Cys) c.1123G>T (p.Gly375Cys) c.1063G>T (p.Gly355Cys) | |
6 | g.24528031G>A | CA362978066 | ALDH5A1 | c.1208G>A (p.Gly403Asp) n.323G>A c.827G>A (p.Gly276Asp) c.1171G>A c.1247G>A (p.Gly416Asp) c.1124G>A (p.Gly375Asp) c.1064G>A (p.Gly355Asp) | |
6 | g.24528031G>C | CA362978068 | ALDH5A1 | c.1208G>C (p.Gly403Ala) n.323G>C c.827G>C (p.Gly276Ala) c.1171G>C c.1247G>C (p.Gly416Ala) c.1124G>C (p.Gly375Ala) c.1064G>C (p.Gly355Ala) | |
6 | g.24528031G>T | CA362978069 | ALDH5A1 | c.1208G>T (p.Gly403Val) n.323G>T c.827G>T (p.Gly276Val) c.1171G>T c.1247G>T (p.Gly416Val) c.1124G>T (p.Gly375Val) c.1064G>T (p.Gly355Val) | |
6 | g.24528032T>A | CA448787457 | ALDH5A1 | c.1209T>A (p.Gly403=) n.324T>A c.828T>A (p.Gly276=) c.1172T>A c.1248T>A (p.Gly416=) c.1125T>A (p.Gly375=) c.1065T>A (p.Gly355=) | |
6 | g.24528032T>C | CA448787458 | ALDH5A1 | c.1209T>C (p.Gly403=) n.324T>C c.828T>C (p.Gly276=) c.1172T>C c.1248T>C (p.Gly416=) c.1125T>C (p.Gly375=) c.1065T>C (p.Gly355=) | |
6 | g.24528032T>G | CA448787459 | ALDH5A1 | c.1209T>G (p.Gly403=) n.324T>G c.828T>G (p.Gly276=) c.1172T>G c.1248T>G (p.Gly416=) c.1125T>G (p.Gly375=) c.1065T>G (p.Gly355=) | |
6 | g.24528033G>A | CA362978071 | ALDH5A1 | c.1210G>A (p.Ala404Thr) n.325G>A c.829G>A (p.Ala277Thr) c.1173G>A c.1249G>A (p.Ala417Thr) c.1126G>A (p.Ala376Thr) c.1066G>A (p.Ala356Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24528033G>C | CA362978073 | ALDH5A1 | c.1210G>C (p.Ala404Pro) n.325G>C c.829G>C (p.Ala277Pro) c.1173G>C c.1249G>C (p.Ala417Pro) c.1126G>C (p.Ala376Pro) c.1066G>C (p.Ala356Pro) | |
6 | g.24528033G= | CA1616534940 | ALDH5A1 | c.1210G= (p.Ala404=) n.325G= c.829G= (p.Ala277=) c.1173G= c.1249G= (p.Ala417=) c.1126G= (p.Ala376=) c.1066G= (p.Ala356=) | |
6 | g.24528033G>T | CA362978076 | ALDH5A1 | c.1210G>T (p.Ala404Ser) n.325G>T c.829G>T (p.Ala277Ser) c.1173G>T c.1249G>T (p.Ala417Ser) c.1126G>T (p.Ala376Ser) c.1066G>T (p.Ala356Ser) | |
6 | g.24528034C>A | CA362978079 | ALDH5A1 | c.1211C>A (p.Ala404Asp) n.326C>A c.830C>A (p.Ala277Asp) c.1174C>A c.1250C>A (p.Ala417Asp) c.1127C>A (p.Ala376Asp) c.1067C>A (p.Ala356Asp) | |
6 | g.24528034C= | CA1616534941 | ALDH5A1 | c.1211C= (p.Ala404=) n.326C= c.830C= (p.Ala277=) c.1174C= c.1250C= (p.Ala417=) c.1127C= (p.Ala376=) c.1067C= (p.Ala356=) | |
6 | g.24528034C>G | CA3656882 | ALDH5A1 | c.1211C>G (p.Ala404Gly) n.326C>G c.830C>G (p.Ala277Gly) c.1174C>G c.1250C>G (p.Ala417Gly) c.1127C>G (p.Ala376Gly) c.1067C>G (p.Ala356Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528034C>T | CA362978087 | ALDH5A1 | c.1211C>T (p.Ala404Val) n.326C>T c.830C>T (p.Ala277Val) c.1174C>T c.1250C>T (p.Ala417Val) c.1127C>T (p.Ala376Val) c.1067C>T (p.Ala356Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24528035C>A | CA448787465 | ALDH5A1 | c.1212C>A (p.Ala404=) n.327C>A c.831C>A (p.Ala277=) c.1175C>A c.1251C>A (p.Ala417=) c.1128C>A (p.Ala376=) c.1068C>A (p.Ala356=) | |
6 | g.24528035C>G | CA448787466 | ALDH5A1 | c.1212C>G (p.Ala404=) n.327C>G c.831C>G (p.Ala277=) c.1175C>G c.1251C>G (p.Ala417=) c.1128C>G (p.Ala376=) c.1068C>G (p.Ala356=) | |
6 | g.24528035C>T | CA448787468 | ALDH5A1 | c.1212C>T (p.Ala404=) n.327C>T c.831C>T (p.Ala277=) c.1175C>T c.1251C>T (p.Ala417=) c.1128C>T (p.Ala376=) c.1068C>T (p.Ala356=) | gnomAD v4 |
6 | g.24528036A= | CA1616534942 | ALDH5A1 | c.1213A= (p.Thr405=) n.328A= c.832A= (p.Thr278=) c.1176A= c.1252A= (p.Thr418=) c.1129A= (p.Thr377=) c.1069A= (p.Thr357=) | |
6 | g.24528036A>C | CA362978095 | ALDH5A1 | c.1213A>C (p.Thr405Pro) n.328A>C c.832A>C (p.Thr278Pro) c.1176A>C c.1252A>C (p.Thr418Pro) c.1129A>C (p.Thr377Pro) c.1069A>C (p.Thr357Pro) | |
6 | g.24528036A>G | CA362978092 | ALDH5A1 | c.1213A>G (p.Thr405Ala) n.328A>G c.832A>G (p.Thr278Ala) c.1176A>G c.1252A>G (p.Thr418Ala) c.1129A>G (p.Thr377Ala) c.1069A>G (p.Thr357Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24528036A>T | CA362978091 | ALDH5A1 | c.1213A>T (p.Thr405Ser) n.328A>T c.832A>T (p.Thr278Ser) c.1176A>T c.1252A>T (p.Thr418Ser) c.1129A>T (p.Thr377Ser) c.1069A>T (p.Thr357Ser) | |
6 | g.24528037C>A | CA362978097 | ALDH5A1 | c.1214C>A (p.Thr405Asn) n.329C>A c.833C>A (p.Thr278Asn) c.1177C>A c.1253C>A (p.Thr418Asn) c.1130C>A (p.Thr377Asn) c.1070C>A (p.Thr357Asn) | gnomAD v4 |
6 | g.24528037C>G | CA362978105 | ALDH5A1 | c.1214C>G (p.Thr405Ser) n.329C>G c.833C>G (p.Thr278Ser) c.1177C>G c.1253C>G (p.Thr418Ser) c.1130C>G (p.Thr377Ser) c.1070C>G (p.Thr357Ser) | |
6 | g.24528037C>T | CA362978100 | ALDH5A1 | c.1214C>T (p.Thr405Ile) n.329C>T c.833C>T (p.Thr278Ile) c.1177C>T c.1253C>T (p.Thr418Ile) c.1130C>T (p.Thr377Ile) c.1070C>T (p.Thr357Ile) | |
6 | g.24528038dup | CA2695206042 | ALDH5A1 | c.1215dup (p.Val406ArgfsTer16) n.330dup c.834dup (p.Val279ArgfsTer16) c.1178dup c.1254dup (p.Val419ArgfsTer16) c.1131dup (p.Val378ArgfsTer16) c.1071dup (p.Val358ArgfsTer16) | |
6 | g.24528038C>A | CA448787474 | ALDH5A1 | c.1215C>A (p.Thr405=) n.330C>A c.834C>A (p.Thr278=) c.1178C>A c.1254C>A (p.Thr418=) c.1131C>A (p.Thr377=) c.1071C>A (p.Thr357=) | gnomAD v4 |
6 | g.24528038C= | CA1616534943 | ALDH5A1 | c.1215C= (p.Thr405=) n.330C= c.834C= (p.Thr278=) c.1178C= c.1254C= (p.Thr418=) c.1131C= (p.Thr377=) c.1071C= (p.Thr357=) | |
6 | g.24528038C>G | CA448787476 | ALDH5A1 | c.1215C>G (p.Thr405=) n.330C>G c.834C>G (p.Thr278=) c.1178C>G c.1254C>G (p.Thr418=) c.1131C>G (p.Thr377=) c.1071C>G (p.Thr357=) | |
6 | g.24528038C>T | CA136139289 | ALDH5A1 | c.1215C>T (p.Thr405=) n.330C>T c.834C>T (p.Thr278=) c.1178C>T c.1254C>T (p.Thr418=) c.1131C>T (p.Thr377=) c.1071C>T (p.Thr357=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.24528039G>A | CA3656883 | ALDH5A1 | c.1216G>A (p.Val406Ile) n.331G>A c.835G>A (p.Val279Ile) c.1179G>A c.1255G>A (p.Val419Ile) c.1132G>A (p.Val378Ile) c.1072G>A (p.Val358Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528039G>C | CA362978112 | ALDH5A1 | c.1216G>C (p.Val406Leu) n.331G>C c.835G>C (p.Val279Leu) c.1179G>C c.1255G>C (p.Val419Leu) c.1132G>C (p.Val378Leu) c.1072G>C (p.Val358Leu) | |
6 | g.24528039G= | CA1616534944 | ALDH5A1 | c.1216G= (p.Val406=) n.331G= c.835G= (p.Val279=) c.1179G= c.1255G= (p.Val419=) c.1132G= (p.Val378=) c.1072G= (p.Val358=) | |
6 | g.24528039G>T | CA362978115 | ALDH5A1 | c.1216G>T (p.Val406Phe) n.331G>T c.835G>T (p.Val279Phe) c.1179G>T c.1255G>T (p.Val419Phe) c.1132G>T (p.Val378Phe) c.1072G>T (p.Val358Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24528040T>A | CA362978117 | ALDH5A1 | c.1217T>A (p.Val406Asp) n.332T>A c.836T>A (p.Val279Asp) c.1180T>A c.1256T>A (p.Val419Asp) c.1133T>A (p.Val378Asp) c.1073T>A (p.Val358Asp) | |
6 | g.24528040T>C | CA3656884 | ALDH5A1 | c.1217T>C (p.Val406Ala) n.332T>C c.836T>C (p.Val279Ala) c.1180T>C c.1256T>C (p.Val419Ala) c.1133T>C (p.Val378Ala) c.1073T>C (p.Val358Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24528040T>G | CA362978123 | ALDH5A1 | c.1217T>G (p.Val406Gly) n.332T>G c.836T>G (p.Val279Gly) c.1180T>G c.1256T>G (p.Val419Gly) c.1133T>G (p.Val378Gly) c.1073T>G (p.Val358Gly) | |
6 | g.24528040T= | CA1616534945 | ALDH5A1 | c.1217T= (p.Val406=) n.332T= c.836T= (p.Val279=) c.1180T= c.1256T= (p.Val419=) c.1133T= (p.Val378=) c.1073T= (p.Val358=) | |
6 | g.24528041T>A | CA448787482 | ALDH5A1 | c.1218T>A (p.Val406=) n.333T>A c.837T>A (p.Val279=) c.1181T>A c.1257T>A (p.Val419=) c.1134T>A (p.Val378=) c.1074T>A (p.Val358=) | |
6 | g.24528041T>C | CA448787484 | ALDH5A1 | c.1218T>C (p.Val406=) n.333T>C c.837T>C (p.Val279=) c.1181T>C c.1257T>C (p.Val419=) c.1134T>C (p.Val378=) c.1074T>C (p.Val358=) | |
6 | g.24528041T>G | CA448787485 | ALDH5A1 | c.1218T>G (p.Val406=) n.333T>G c.837T>G (p.Val279=) c.1181T>G c.1257T>G (p.Val419=) c.1134T>G (p.Val378=) c.1074T>G (p.Val358=) | |
6 | g.24528042G>A | CA362978128 | ALDH5A1 | c.1219G>A (p.Val407Met) n.334G>A c.838G>A (p.Val280Met) c.1182G>A c.1258G>A (p.Val420Met) c.1135G>A (p.Val379Met) c.1075G>A (p.Val359Met) | |
6 | g.24528042G>C | CA362978131 | ALDH5A1 | c.1219G>C (p.Val407Leu) n.334G>C c.838G>C (p.Val280Leu) c.1182G>C c.1258G>C (p.Val420Leu) c.1135G>C (p.Val379Leu) c.1075G>C (p.Val359Leu) | |
6 | g.24528042G>T | CA362978134 | ALDH5A1 | c.1219G>T (p.Val407Leu) n.334G>T c.838G>T (p.Val280Leu) c.1182G>T c.1258G>T (p.Val420Leu) c.1135G>T (p.Val379Leu) c.1075G>T (p.Val359Leu) | |
6 | g.24528043T>A | CA362978147 | ALDH5A1 | c.1220T>A (p.Val407Glu) n.335T>A c.839T>A (p.Val280Glu) c.1183T>A c.1259T>A (p.Val420Glu) c.1136T>A (p.Val379Glu) c.1076T>A (p.Val359Glu) | |
6 | g.24528043T>C | CA362978145 | ALDH5A1 | c.1220T>C (p.Val407Ala) n.335T>C c.839T>C (p.Val280Ala) c.1183T>C c.1259T>C (p.Val420Ala) c.1136T>C (p.Val379Ala) c.1076T>C (p.Val359Ala) | |
6 | g.24528043T>G | CA362978138 | ALDH5A1 | c.1220T>G (p.Val407Gly) n.335T>G c.839T>G (p.Val280Gly) c.1183T>G c.1259T>G (p.Val420Gly) c.1136T>G (p.Val379Gly) c.1076T>G (p.Val359Gly) | gnomAD v4 |
6 | g.24528044G>A | CA448787491 | ALDH5A1 | c.1221G>A (p.Val407=) n.336G>A c.840G>A (p.Val280=) c.1184G>A c.1260G>A (p.Val420=) c.1137G>A (p.Val379=) c.1077G>A (p.Val359=) | |
6 | g.24528044G>C | CA448787493 | ALDH5A1 | c.1221G>C (p.Val407=) n.336G>C c.840G>C (p.Val280=) c.1184G>C c.1260G>C (p.Val420=) c.1137G>C (p.Val379=) c.1077G>C (p.Val359=) | |
6 | g.24528044G>T | CA448787494 | ALDH5A1 | c.1221G>T (p.Val407=) n.336G>T c.840G>T (p.Val280=) c.1184G>T c.1260G>T (p.Val420=) c.1137G>T (p.Val379=) c.1077G>T (p.Val359=) | |
6 | g.24528045A>C | CA362978157 | ALDH5A1 | c.1222A>C (p.Thr408Pro) n.337A>C c.841A>C (p.Thr281Pro) c.1185A>C c.1261A>C (p.Thr421Pro) c.1138A>C (p.Thr380Pro) c.1078A>C (p.Thr360Pro) | |
6 | g.24528045A>G | CA362978159 | ALDH5A1 | c.1222A>G (p.Thr408Ala) n.337A>G c.841A>G (p.Thr281Ala) c.1185A>G c.1261A>G (p.Thr421Ala) c.1138A>G (p.Thr380Ala) c.1078A>G (p.Thr360Ala) | |
6 | g.24528045A>T | CA362978162 | ALDH5A1 | c.1222A>T (p.Thr408Ser) n.337A>T c.841A>T (p.Thr281Ser) c.1185A>T c.1261A>T (p.Thr421Ser) c.1138A>T (p.Thr380Ser) c.1078A>T (p.Thr360Ser) | |
6 | g.24528046C>A | CA362978169 | ALDH5A1 | c.1223C>A (p.Thr408Lys) n.338C>A c.842C>A (p.Thr281Lys) c.1186C>A c.1262C>A (p.Thr421Lys) c.1139C>A (p.Thr380Lys) c.1079C>A (p.Thr360Lys) | |
6 | g.24528046C= | CA1616534946 | ALDH5A1 | c.1223C= (p.Thr408=) n.338C= c.842C= (p.Thr281=) c.1186C= c.1262C= (p.Thr421=) c.1139C= (p.Thr380=) c.1079C= (p.Thr360=) | |
6 | g.24528046C>G | CA3656885 | ALDH5A1 | c.1223C>G (p.Thr408Arg) n.338C>G c.842C>G (p.Thr281Arg) c.1186C>G c.1262C>G (p.Thr421Arg) c.1139C>G (p.Thr380Arg) c.1079C>G (p.Thr360Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24528046C>T | CA362978176 | ALDH5A1 | c.1223C>T (p.Thr408Ile) n.338C>T c.842C>T (p.Thr281Ile) c.1186C>T c.1262C>T (p.Thr421Ile) c.1139C>T (p.Thr380Ile) c.1079C>T (p.Thr360Ile) | |
6 | g.24528047A>C | CA448787499 | ALDH5A1 | c.1224A>C (p.Thr408=) n.339A>C c.843A>C (p.Thr281=) c.1187A>C c.1263A>C (p.Thr421=) c.1140A>C (p.Thr380=) c.1080A>C (p.Thr360=) | |
6 | g.24528047A>G | CA448787501 | ALDH5A1 | c.1224A>G (p.Thr408=) n.339A>G c.843A>G (p.Thr281=) c.1187A>G c.1263A>G (p.Thr421=) c.1140A>G (p.Thr380=) c.1080A>G (p.Thr360=) | |
6 | g.24528047A>T | CA448787503 | ALDH5A1 | c.1224A>T (p.Thr408=) n.339A>T c.843A>T (p.Thr281=) c.1187A>T c.1263A>T (p.Thr421=) c.1140A>T (p.Thr380=) c.1080A>T (p.Thr360=) | |
6 | g.24528048G>A | CA362978204 | ALDH5A1 | c.1225G>A (p.Gly409Ser) n.340G>A c.844G>A (p.Gly282Ser) c.1188G>A c.1264G>A (p.Gly422Ser) c.1141G>A (p.Gly381Ser) c.1081G>A (p.Gly361Ser) | |
6 | g.24528048G>C | CA362978211 | ALDH5A1 | c.1225G>C (p.Gly409Arg) n.340G>C c.844G>C (p.Gly282Arg) c.1188G>C c.1264G>C (p.Gly422Arg) c.1141G>C (p.Gly381Arg) c.1081G>C (p.Gly361Arg) | |
6 | g.24528048G>T | CA362978215 | ALDH5A1 | c.1225G>T (p.Gly409Cys) n.340G>T c.844G>T (p.Gly282Cys) c.1188G>T c.1264G>T (p.Gly422Cys) c.1141G>T (p.Gly381Cys) c.1081G>T (p.Gly361Cys) | |
6 | g.24528049G>A | CA251762 | ALDH5A1 | c.1226G>A (p.Gly409Asp) n.341G>A c.845G>A (p.Gly282Asp) c.1189G>A c.1265G>A (p.Gly422Asp) c.1142G>A (p.Gly381Asp) c.1082G>A (p.Gly361Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528049G>C | CA362978221 | ALDH5A1 | c.1226G>C (p.Gly409Ala) n.341G>C c.845G>C (p.Gly282Ala) c.1189G>C c.1265G>C (p.Gly422Ala) c.1142G>C (p.Gly381Ala) c.1082G>C (p.Gly361Ala) | |
6 | g.24528049G= | CA1616534947 | ALDH5A1 | c.1226G= (p.Gly409=) n.341G= c.845G= (p.Gly282=) c.1189G= c.1265G= (p.Gly422=) c.1142G= (p.Gly381=) c.1082G= (p.Gly361=) | |
6 | g.24528049G>T | CA362978226 | ALDH5A1 | c.1226G>T (p.Gly409Val) n.341G>T c.845G>T (p.Gly282Val) c.1189G>T c.1265G>T (p.Gly422Val) c.1142G>T (p.Gly381Val) c.1082G>T (p.Gly361Val) | gnomAD v4 |
6 | g.24528050T>A | CA448787508 | ALDH5A1 | c.1227T>A (p.Gly409=) n.342T>A c.846T>A (p.Gly282=) c.1190T>A c.1266T>A (p.Gly422=) c.1143T>A (p.Gly381=) c.1083T>A (p.Gly361=) | |
6 | g.24528050T>C | CA448787507 | ALDH5A1 | c.1227T>C (p.Gly409=) n.342T>C c.846T>C (p.Gly282=) c.1190T>C c.1266T>C (p.Gly422=) c.1143T>C (p.Gly381=) c.1083T>C (p.Gly361=) | |
6 | g.24528050T>G | CA448787506 | ALDH5A1 | c.1227T>G (p.Gly409=) n.342T>G c.846T>G (p.Gly282=) c.1190T>G c.1266T>G (p.Gly422=) c.1143T>G (p.Gly381=) c.1083T>G (p.Gly361=) | |
6 | g.24528051G>A | CA362978245 | ALDH5A1 | c.1228G>A (p.Gly410Arg) n.343G>A c.847G>A (p.Gly283Arg) c.1191G>A c.1267G>A (p.Gly423Arg) c.1144G>A (p.Gly382Arg) c.1084G>A (p.Gly362Arg) | |
6 | g.24528051G>C | CA362978249 | ALDH5A1 | c.1228G>C (p.Gly410Arg) n.343G>C c.847G>C (p.Gly283Arg) c.1191G>C c.1267G>C (p.Gly423Arg) c.1144G>C (p.Gly382Arg) c.1084G>C (p.Gly362Arg) | |
6 | g.24528051G>T | CA362978232 | ALDH5A1 | c.1228G>T (p.Gly410Ter) n.343G>T c.847G>T (p.Gly283Ter) c.1191G>T c.1267G>T (p.Gly423Ter) c.1144G>T (p.Gly382Ter) c.1084G>T (p.Gly362Ter) | |
6 | g.24528052G>A | CA362978252 | ALDH5A1 | c.1229G>A (p.Gly410Glu) n.344G>A c.848G>A (p.Gly283Glu) c.1192G>A c.1268G>A (p.Gly423Glu) c.1145G>A (p.Gly382Glu) c.1085G>A (p.Gly362Glu) | |
6 | g.24528052G>C | CA362978253 | ALDH5A1 | c.1229G>C (p.Gly410Ala) n.344G>C c.848G>C (p.Gly283Ala) c.1192G>C c.1268G>C (p.Gly423Ala) c.1145G>C (p.Gly382Ala) c.1085G>C (p.Gly362Ala) | |
6 | g.24528052G>T | CA362978255 | ALDH5A1 | c.1229G>T (p.Gly410Val) n.344G>T c.848G>T (p.Gly283Val) c.1192G>T c.1268G>T (p.Gly423Val) c.1145G>T (p.Gly382Val) c.1085G>T (p.Gly362Val) | |
6 | g.24528053A>C | CA448787513 | ALDH5A1 | c.1230A>C (p.Gly410=) n.345A>C c.849A>C (p.Gly283=) c.1193A>C c.1269A>C (p.Gly423=) c.1146A>C (p.Gly382=) c.1086A>C (p.Gly362=) | |
6 | g.24528053A>G | CA448787515 | ALDH5A1 | c.1230A>G (p.Gly410=) n.345A>G c.849A>G (p.Gly283=) c.1193A>G c.1269A>G (p.Gly423=) c.1146A>G (p.Gly382=) c.1086A>G (p.Gly362=) | |
6 | g.24528053A>T | CA448787516 | ALDH5A1 | c.1230A>T (p.Gly410=) n.345A>T c.849A>T (p.Gly283=) c.1193A>T c.1269A>T (p.Gly423=) c.1146A>T (p.Gly382=) c.1086A>T (p.Gly362=) | |
6 | g.24528054A>C | CA362978260 | ALDH5A1 | c.1231A>C (p.Lys411Gln) n.346A>C c.850A>C (p.Lys284Gln) c.1194A>C c.1270A>C (p.Lys424Gln) c.1147A>C (p.Lys383Gln) c.1087A>C (p.Lys363Gln) | |
6 | g.24528054A>G | CA362978261 | ALDH5A1 | c.1231A>G (p.Lys411Glu) n.346A>G c.850A>G (p.Lys284Glu) c.1194A>G c.1270A>G (p.Lys424Glu) c.1147A>G (p.Lys383Glu) c.1087A>G (p.Lys363Glu) | |
6 | g.24528054A>T | CA362978264 | ALDH5A1 | c.1231A>T (p.Lys411Ter) n.346A>T c.850A>T (p.Lys284Ter) c.1194A>T c.1270A>T (p.Lys424Ter) c.1147A>T (p.Lys383Ter) c.1087A>T (p.Lys363Ter) | |
6 | g.24528055A>C | CA362978266 | ALDH5A1 | c.1232A>C (p.Lys411Thr) n.347A>C c.851A>C (p.Lys284Thr) c.1195A>C c.1271A>C (p.Lys424Thr) c.1148A>C (p.Lys383Thr) c.1088A>C (p.Lys363Thr) | |
6 | g.24528055A>G | CA362978268 | ALDH5A1 | c.1232A>G (p.Lys411Arg) n.347A>G c.851A>G (p.Lys284Arg) c.1195A>G c.1271A>G (p.Lys424Arg) c.1148A>G (p.Lys383Arg) c.1088A>G (p.Lys363Arg) | gnomAD v4 |
6 | g.24528055A>T | CA362978271 | ALDH5A1 | c.1232A>T (p.Lys411Ile) n.347A>T c.851A>T (p.Lys284Ile) c.1195A>T c.1271A>T (p.Lys424Ile) c.1148A>T (p.Lys383Ile) c.1088A>T (p.Lys363Ile) | |
6 | g.24528056A>C | CA362978272 | ALDH5A1 | c.1233A>C (p.Lys411Asn) n.348A>C c.852A>C (p.Lys284Asn) c.1196A>C c.1272A>C (p.Lys424Asn) c.1149A>C (p.Lys383Asn) c.1089A>C (p.Lys363Asn) | |
6 | g.24528056A>G | CA448787522 | ALDH5A1 | c.1233A>G (p.Lys411=) n.348A>G c.852A>G (p.Lys284=) c.1196A>G c.1272A>G (p.Lys424=) c.1149A>G (p.Lys383=) c.1089A>G (p.Lys363=) | |
6 | g.24528056A>T | CA362978273 | ALDH5A1 | c.1233A>T (p.Lys411Asn) n.348A>T c.852A>T (p.Lys284Asn) c.1196A>T c.1272A>T (p.Lys424Asn) c.1149A>T (p.Lys383Asn) c.1089A>T (p.Lys363Asn) | |
6 | g.24528057C>A | CA448787524 | ALDH5A1 | c.1234C>A (p.Arg412=) n.349C>A c.853C>A (p.Arg285=) c.1197C>A c.1273C>A (p.Arg425=) c.1150C>A (p.Arg384=) c.1090C>A (p.Arg364=) | |
6 | g.24528057C= | CA1616534948 | ALDH5A1 | c.1234C= (p.Arg412=) n.349C= c.853C= (p.Arg285=) c.1197C= c.1273C= (p.Arg425=) c.1150C= (p.Arg384=) c.1090C= (p.Arg364=) | |
6 | g.24528057C>G | CA362978274 | ALDH5A1 | c.1234C>G (p.Arg412Gly) n.349C>G c.853C>G (p.Arg285Gly) c.1197C>G c.1273C>G (p.Arg425Gly) c.1150C>G (p.Arg384Gly) c.1090C>G (p.Arg364Gly) | |
6 | g.24528057C>T | CA251759 | ALDH5A1 | c.1234C>T (p.Arg412Ter) n.349C>T c.853C>T (p.Arg285Ter) c.1197C>T c.1273C>T (p.Arg425Ter) c.1150C>T (p.Arg384Ter) c.1090C>T (p.Arg364Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528058G>A | CA3656886 | ALDH5A1 | c.1235G>A (p.Arg412Gln) n.350G>A c.854G>A (p.Arg285Gln) c.1198G>A c.1274G>A (p.Arg425Gln) c.1151G>A (p.Arg384Gln) c.1091G>A (p.Arg364Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24528058G>C | CA362978281 | ALDH5A1 | c.1235G>C (p.Arg412Pro) n.350G>C c.854G>C (p.Arg285Pro) c.1198G>C c.1274G>C (p.Arg425Pro) c.1151G>C (p.Arg384Pro) c.1091G>C (p.Arg364Pro) | |
6 | g.24528058G= | CA1616534949 | ALDH5A1 | c.1235G= (p.Arg412=) n.350G= c.854G= (p.Arg285=) c.1198G= c.1274G= (p.Arg425=) c.1151G= (p.Arg384=) c.1091G= (p.Arg364=) | |
6 | g.24528058G>T | CA362978279 | ALDH5A1 | c.1235G>T (p.Arg412Leu) n.350G>T c.854G>T (p.Arg285Leu) c.1198G>T c.1274G>T (p.Arg425Leu) c.1151G>T (p.Arg384Leu) c.1091G>T (p.Arg364Leu) | gnomAD v4 |
6 | g.24528059A>C | CA448787528 | ALDH5A1 | c.1236A>C (p.Arg412=) n.351A>C c.855A>C (p.Arg285=) c.1199A>C c.1275A>C (p.Arg425=) c.1152A>C (p.Arg384=) c.1092A>C (p.Arg364=) | |
6 | g.24528059A>G | CA448787530 | ALDH5A1 | c.1236A>G (p.Arg412=) n.351A>G c.855A>G (p.Arg285=) c.1199A>G c.1275A>G (p.Arg425=) c.1152A>G (p.Arg384=) c.1092A>G (p.Arg364=) | |
6 | g.24528059A>T | CA448787531 | ALDH5A1 | c.1236A>T (p.Arg412=) n.351A>T c.855A>T (p.Arg285=) c.1199A>T c.1275A>T (p.Arg425=) c.1152A>T (p.Arg384=) c.1092A>T (p.Arg364=) | |
6 | g.24528060C>A | CA362978288 | ALDH5A1 | c.1237C>A (p.His413Asn) n.352C>A c.856C>A (p.His286Asn) c.1200C>A c.1276C>A (p.His426Asn) c.1153C>A (p.His385Asn) c.1093C>A (p.His365Asn) | |
6 | g.24528060C>G | CA362978293 | ALDH5A1 | c.1237C>G (p.His413Asp) n.352C>G c.856C>G (p.His286Asp) c.1200C>G c.1276C>G (p.His426Asp) c.1153C>G (p.His385Asp) c.1093C>G (p.His365Asp) | |
6 | g.24528060C>T | CA362978295 | ALDH5A1 | c.1237C>T (p.His413Tyr) n.352C>T c.856C>T (p.His286Tyr) c.1200C>T c.1276C>T (p.His426Tyr) c.1153C>T (p.His385Tyr) c.1093C>T (p.His365Tyr) | |
6 | g.24528061A>C | CA362978296 | ALDH5A1 | c.1238A>C (p.His413Pro) n.353A>C c.857A>C (p.His286Pro) c.1201A>C c.1277A>C (p.His426Pro) c.1154A>C (p.His385Pro) c.1094A>C (p.His365Pro) | |
6 | g.24528061A>G | CA362978297 | ALDH5A1 | c.1238A>G (p.His413Arg) n.353A>G c.857A>G (p.His286Arg) c.1201A>G c.1277A>G (p.His426Arg) c.1154A>G (p.His385Arg) c.1094A>G (p.His365Arg) | |
6 | g.24528061A>T | CA362978298 | ALDH5A1 | c.1238A>T (p.His413Leu) n.353A>T c.857A>T (p.His286Leu) c.1201A>T c.1277A>T (p.His426Leu) c.1154A>T (p.His385Leu) c.1094A>T (p.His365Leu) | |
6 | g.24528062C>A | CA362978301 | ALDH5A1 | c.1239C>A (p.His413Gln) n.354C>A c.858C>A (p.His286Gln) c.1202C>A c.1278C>A (p.His426Gln) c.1155C>A (p.His385Gln) c.1095C>A (p.His365Gln) | |
6 | g.24528062C>G | CA362978303 | ALDH5A1 | c.1239C>G (p.His413Gln) n.354C>G c.858C>G (p.His286Gln) c.1202C>G c.1278C>G (p.His426Gln) c.1155C>G (p.His385Gln) c.1095C>G (p.His365Gln) | |
6 | g.24528062C>T | CA448787537 | ALDH5A1 | c.1239C>T (p.His413=) n.354C>T c.858C>T (p.His286=) c.1202C>T c.1278C>T (p.His426=) c.1155C>T (p.His385=) c.1095C>T (p.His365=) | |
6 | g.24528063C>A | CA362978308 | ALDH5A1 | c.1240C>A (p.Gln414Lys) n.355C>A c.859C>A (p.Gln287Lys) c.1203C>A c.1279C>A (p.Gln427Lys) c.1156C>A (p.Gln386Lys) c.1096C>A (p.Gln366Lys) | |
6 | g.24528063C= | CA1616534950 | ALDH5A1 | c.1240C= (p.Gln414=) n.355C= c.859C= (p.Gln287=) c.1203C= c.1279C= (p.Gln427=) c.1156C= (p.Gln386=) c.1096C= (p.Gln366=) | |
6 | g.24528063C>G | CA362978316 | ALDH5A1 | c.1240C>G (p.Gln414Glu) n.355C>G c.859C>G (p.Gln287Glu) c.1203C>G c.1279C>G (p.Gln427Glu) c.1156C>G (p.Gln386Glu) c.1096C>G (p.Gln366Glu) | |
6 | g.24528063C>T | CA362978319 | ALDH5A1 | c.1240C>T (p.Gln414Ter) n.355C>T c.859C>T (p.Gln287Ter) c.1203C>T c.1279C>T (p.Gln427Ter) c.1156C>T (p.Gln386Ter) c.1096C>T (p.Gln366Ter) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24528064A>C | CA362978322 | ALDH5A1 | c.1241A>C (p.Gln414Pro) n.356A>C c.860A>C (p.Gln287Pro) c.1204A>C c.1280A>C (p.Gln427Pro) c.1157A>C (p.Gln386Pro) c.1097A>C (p.Gln366Pro) | |
6 | g.24528064A>G | CA362978324 | ALDH5A1 | c.1241A>G (p.Gln414Arg) n.356A>G c.860A>G (p.Gln287Arg) c.1204A>G c.1280A>G (p.Gln427Arg) c.1157A>G (p.Gln386Arg) c.1097A>G (p.Gln366Arg) | |
6 | g.24528064A>T | CA362978325 | ALDH5A1 | c.1241A>T (p.Gln414Leu) n.356A>T c.860A>T (p.Gln287Leu) c.1204A>T c.1280A>T (p.Gln427Leu) c.1157A>T (p.Gln386Leu) c.1097A>T (p.Gln366Leu) | |
6 | g.24528065A>C | CA362978335 | ALDH5A1 | c.1242A>C (p.Gln414His) n.357A>C c.861A>C (p.Gln287His) c.1205A>C c.1281A>C (p.Gln427His) c.1158A>C (p.Gln386His) c.1098A>C (p.Gln366His) | |
6 | g.24528065A>G | CA448787542 | ALDH5A1 | c.1242A>G (p.Gln414=) n.357A>G c.861A>G (p.Gln287=) c.1205A>G c.1281A>G (p.Gln427=) c.1158A>G (p.Gln386=) c.1098A>G (p.Gln366=) | gnomAD v4 |
6 | g.24528065A>T | CA362978337 | ALDH5A1 | c.1242A>T (p.Gln414His) n.357A>T c.861A>T (p.Gln287His) c.1205A>T c.1281A>T (p.Gln427His) c.1158A>T (p.Gln386His) c.1098A>T (p.Gln366His) | COSMIC |
6 | g.24528066C>A | CA362978341 | ALDH5A1 | c.1243C>A (p.Leu415Ile) n.358C>A c.862C>A (p.Leu288Ile) c.1206C>A c.1282C>A (p.Leu428Ile) c.1159C>A (p.Leu387Ile) c.1099C>A (p.Leu367Ile) | ClinVar dbSNP |
6 | g.24528066C= | CA1616534951 | ALDH5A1 | c.1243C= (p.Leu415=) n.358C= c.862C= (p.Leu288=) c.1206C= c.1282C= (p.Leu428=) c.1159C= (p.Leu387=) c.1099C= (p.Leu367=) | |
6 | g.24528066C>G | CA362978346 | ALDH5A1 | c.1243C>G (p.Leu415Val) n.358C>G c.862C>G (p.Leu288Val) c.1206C>G c.1282C>G (p.Leu428Val) c.1159C>G (p.Leu387Val) c.1099C>G (p.Leu367Val) | |
6 | g.24528066C>T | CA362978343 | ALDH5A1 | c.1243C>T (p.Leu415Phe) n.358C>T c.862C>T (p.Leu288Phe) c.1206C>T c.1282C>T (p.Leu428Phe) c.1159C>T (p.Leu387Phe) c.1099C>T (p.Leu367Phe) | |
6 | g.24528067T>A | CA362978350 | ALDH5A1 | c.1244T>A (p.Leu415His) n.359T>A c.863T>A (p.Leu288His) c.1207T>A c.1283T>A (p.Leu428His) c.1160T>A (p.Leu387His) c.1100T>A (p.Leu367His) | |
6 | g.24528067T>C | CA362978358 | ALDH5A1 | c.1244T>C (p.Leu415Pro) n.359T>C c.863T>C (p.Leu288Pro) c.1207T>C c.1283T>C (p.Leu428Pro) c.1160T>C (p.Leu387Pro) c.1100T>C (p.Leu367Pro) | |
6 | g.24528067T>G | CA362978355 | ALDH5A1 | c.1244T>G (p.Leu415Arg) n.359T>G c.863T>G (p.Leu288Arg) c.1207T>G c.1283T>G (p.Leu428Arg) c.1160T>G (p.Leu387Arg) c.1100T>G (p.Leu367Arg) | |
6 | g.24528068T>A | CA448787549 | ALDH5A1 | c.1245T>A (p.Leu415=) n.360T>A c.864T>A (p.Leu288=) c.1208T>A c.1284T>A (p.Leu428=) c.1161T>A (p.Leu387=) c.1101T>A (p.Leu367=) | |
6 | g.24528068T>C | CA448787550 | ALDH5A1 | c.1245T>C (p.Leu415=) n.360T>C c.864T>C (p.Leu288=) c.1208T>C c.1284T>C (p.Leu428=) c.1161T>C (p.Leu387=) c.1101T>C (p.Leu367=) | |
6 | g.24528068T>G | CA3656887 | ALDH5A1 | c.1245T>G (p.Leu415=) n.360T>G c.864T>G (p.Leu288=) c.1208T>G c.1284T>G (p.Leu428=) c.1161T>G (p.Leu387=) c.1101T>G (p.Leu367=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24528068T= | CA1616534952 | ALDH5A1 | c.1245T= (p.Leu415=) n.360T= c.864T= (p.Leu288=) c.1208T= c.1284T= (p.Leu428=) c.1161T= (p.Leu387=) c.1101T= (p.Leu367=) | |
6 | g.24528069G>A | CA362978368 | ALDH5A1 | c.1246G>A (p.Gly416Arg) n.361G>A c.865G>A (p.Gly289Arg) c.1209G>A c.1285G>A (p.Gly429Arg) c.1162G>A (p.Gly388Arg) c.1102G>A (p.Gly368Arg) | gnomAD v4 |
6 | g.24528069G>C | CA362978365 | ALDH5A1 | c.1246G>C (p.Gly416Arg) n.361G>C c.865G>C (p.Gly289Arg) c.1209G>C c.1285G>C (p.Gly429Arg) c.1162G>C (p.Gly388Arg) c.1102G>C (p.Gly368Arg) | |
6 | g.24528069G>T | CA362978370 | ALDH5A1 | c.1246G>T (p.Gly416Ter) n.361G>T c.865G>T (p.Gly289Ter) c.1209G>T c.1285G>T (p.Gly429Ter) c.1162G>T (p.Gly388Ter) c.1102G>T (p.Gly368Ter) | |
6 | g.24528070G>A | CA362978374 | ALDH5A1 | c.1247G>A (p.Gly416Glu) n.362G>A c.866G>A (p.Gly289Glu) c.1210G>A c.1286G>A (p.Gly429Glu) c.1163G>A (p.Gly388Glu) c.1103G>A (p.Gly368Glu) | ClinVar |
6 | g.24528070G>C | CA362978376 | ALDH5A1 | c.1247G>C (p.Gly416Ala) n.362G>C c.866G>C (p.Gly289Ala) c.1210G>C c.1286G>C (p.Gly429Ala) c.1163G>C (p.Gly388Ala) c.1103G>C (p.Gly368Ala) | |
6 | g.24528070G>T | CA362978379 | ALDH5A1 | c.1247G>T (p.Gly416Val) n.362G>T c.866G>T (p.Gly289Val) c.1210G>T c.1286G>T (p.Gly429Val) c.1163G>T (p.Gly388Val) c.1103G>T (p.Gly368Val) | |
6 | g.24528071A>C | CA448787555 | ALDH5A1 | c.1248A>C (p.Gly416=) n.363A>C c.867A>C (p.Gly289=) c.1211A>C c.1287A>C (p.Gly429=) c.1164A>C (p.Gly388=) c.1104A>C (p.Gly368=) | |
6 | g.24528071A>G | CA448787556 | ALDH5A1 | c.1248A>G (p.Gly416=) n.363A>G c.867A>G (p.Gly289=) c.1211A>G c.1287A>G (p.Gly429=) c.1164A>G (p.Gly388=) c.1104A>G (p.Gly368=) | |
6 | g.24528071A>T | CA448787558 | ALDH5A1 | c.1248A>T (p.Gly416=) n.363A>T c.867A>T (p.Gly289=) c.1211A>T c.1287A>T (p.Gly429=) c.1164A>T (p.Gly388=) c.1104A>T (p.Gly368=) | |
6 | g.24528076del | CA2580074249 | ALDH5A1 | c.1253del (p.Asn418IlefsTer?) n.368del c.872del (p.Asn291IlefsTer?) c.1216del c.1292del (p.Asn431IlefsTer?) c.1169del (p.Asn390IlefsTer?) c.1109del (p.Asn370IlefsTer?) | ClinVar |
6 | g.24528072A>C | CA362978384 | ALDH5A1 | c.1249A>C (p.Lys417Gln) n.364A>C c.868A>C (p.Lys290Gln) c.1212A>C c.1288A>C (p.Lys430Gln) c.1165A>C (p.Lys389Gln) c.1105A>C (p.Lys369Gln) | |
6 | g.24528072A>G | CA362978399 | ALDH5A1 | c.1249A>G (p.Lys417Glu) n.364A>G c.868A>G (p.Lys290Glu) c.1212A>G c.1288A>G (p.Lys430Glu) c.1165A>G (p.Lys389Glu) c.1105A>G (p.Lys369Glu) | gnomAD v4 |
6 | g.24528072A>T | CA362978403 | ALDH5A1 | c.1249A>T (p.Lys417Ter) n.364A>T c.868A>T (p.Lys290Ter) c.1212A>T c.1288A>T (p.Lys430Ter) c.1165A>T (p.Lys389Ter) c.1105A>T (p.Lys369Ter) | |
6 | g.24528073A= | CA1616534953 | ALDH5A1 | c.1250A= (p.Lys417=) n.365A= c.869A= (p.Lys290=) c.1213A= c.1289A= (p.Lys430=) c.1166A= (p.Lys389=) c.1106A= (p.Lys369=) | |
6 | g.24528073A>C | CA362978406 | ALDH5A1 | c.1250A>C (p.Lys417Thr) n.365A>C c.869A>C (p.Lys290Thr) c.1213A>C c.1289A>C (p.Lys430Thr) c.1166A>C (p.Lys389Thr) c.1106A>C (p.Lys369Thr) | |
6 | g.24528073A>G | CA3656888 | ALDH5A1 | c.1250A>G (p.Lys417Arg) n.365A>G c.869A>G (p.Lys290Arg) c.1213A>G c.1289A>G (p.Lys430Arg) c.1166A>G (p.Lys389Arg) c.1106A>G (p.Lys369Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24528073A>T | CA362978410 | ALDH5A1 | c.1250A>T (p.Lys417Ile) n.365A>T c.869A>T (p.Lys290Ile) c.1213A>T c.1289A>T (p.Lys430Ile) c.1166A>T (p.Lys389Ile) c.1106A>T (p.Lys369Ile) |