Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24527997G>ACA3656875ALDH5A1c.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
6g.24527997G>CCA362977890ALDH5A1c.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)
6g.24527997G=CA1616534927ALDH5A1c.1174G= (p.Val392=)
n.289G=
c.793G= (p.Val265=)
c.1137G=
c.1213G= (p.Val405=)
c.1090G= (p.Val364=)
c.1030G= (p.Val344=)
6g.24527997G>TCA362977891ALDH5A1c.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
6g.24527998T>ACA362977892ALDH5A1c.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)
6g.24527998T>CCA362977893ALDH5A1c.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)
6g.24527998T>GCA362977894ALDH5A1c.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)
6g.24527999G>ACA448787385ALDH5A1c.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
6g.24527999G>CCA448787387ALDH5A1c.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=)
6g.24527999G>TCA448787388ALDH5A1c.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=)
6g.24528000G>ACA362977897ALDH5A1c.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)
6g.24528000G>CCA362977895ALDH5A1c.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
6g.24528000G>TCA362977896ALDH5A1c.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)
6g.24528001A=CA1616534928ALDH5A1c.1178A= (p.Glu393=)
n.293A=
c.797A= (p.Glu266=)
c.1141A=
c.1217A= (p.Glu406=)
c.1094A= (p.Glu365=)
c.1034A= (p.Glu345=)
6g.24528001A>CCA362977898ALDH5A1c.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)
6g.24528001A>GCA362977899ALDH5A1c.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)
6g.24528001A>TCA362977900ALDH5A1c.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)
6g.24528002G>ACA448787390ALDH5A1c.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=)
6g.24528002G>CCA362977901ALDH5A1c.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)
6g.24528002G>TCA362977902ALDH5A1c.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)
6g.24528002dupCA1616534929ALDH5A1c.1179dup (p.Lys394GlufsTer5)
n.294dup
c.798dup (p.Lys267GlufsTer5)
c.1142dup
c.1218dup (p.Lys407GlufsTer5)
c.1095dup (p.Lys366GlufsTer5)
c.1035dup (p.Lys346GlufsTer5)
dbSNP
6g.24528003A>CCA362977903ALDH5A1c.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)
6g.24528003A>GCA362977905ALDH5A1c.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)
6g.24528003A>TCA362977904ALDH5A1c.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)
6g.24528004A>CCA362977906ALDH5A1c.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)
6g.24528004A>GCA362977907ALDH5A1c.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)
6g.24528004A>TCA362977910ALDH5A1c.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)
6g.24528005A>CCA362977916ALDH5A1c.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)
6g.24528005A>GCA448787397ALDH5A1c.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=)
6g.24528005A>TCA362977918ALDH5A1c.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)
6g.24528006C>ACA362977922ALDH5A1c.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)
6g.24528006C>GCA362977929ALDH5A1c.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)
6g.24528006C>TCA362977930ALDH5A1c.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)
6g.24528007A=CA1616534930ALDH5A1c.1184A= (p.Gln395=)
n.299A=
c.803A= (p.Gln268=)
c.1147A=
c.1223A= (p.Gln408=)
c.1100A= (p.Gln367=)
c.1040A= (p.Gln347=)
6g.24528007A>CCA362977932ALDH5A1c.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
6g.24528007A>GCA3656876ALDH5A1c.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
6g.24528007A>TCA362977946ALDH5A1c.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)
6g.24528008G>ACA448787403ALDH5A1c.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=)
6g.24528008G>CCA362977950ALDH5A1c.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
6g.24528008G=CA1616534931ALDH5A1c.1185G= (p.Gln395=)
n.300G=
c.804G= (p.Gln268=)
c.1148G=
c.1224G= (p.Gln408=)
c.1101G= (p.Gln367=)
c.1041G= (p.Gln347=)
6g.24528008G>TCA362977948ALDH5A1c.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
6g.24528009G>ACA3656877ALDH5A1c.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
6g.24528009G>CCA362977953ALDH5A1c.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)
6g.24528009G=CA1616534932ALDH5A1c.1186G= (p.Val396=)
n.301G=
c.805G= (p.Val269=)
c.1149G=
c.1225G= (p.Val409=)
c.1102G= (p.Val368=)
c.1042G= (p.Val348=)
6g.24528009G>TCA362977952ALDH5A1c.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)
6g.24528010T>ACA362977958ALDH5A1c.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)
6g.24528010T>CCA362977964ALDH5A1c.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)
6g.24528010T>GCA362977966ALDH5A1c.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)
6g.24528011G>ACA3656878ALDH5A1c.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
6g.24528011G>CCA448787408ALDH5A1c.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=)
6g.24528011G=CA1616534933ALDH5A1c.1188G= (p.Val396=)
n.303G=
c.807G= (p.Val269=)
c.1151G=
c.1227G= (p.Val409=)
c.1104G= (p.Val368=)
c.1044G= (p.Val348=)
6g.24528011G>TCA448787410ALDH5A1c.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=)
6g.24528012A>CCA362977969ALDH5A1c.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)
6g.24528012A>GCA362977972ALDH5A1c.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
6g.24528012A>TCA362977974ALDH5A1c.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)
6g.24528013A>CCA362977978ALDH5A1c.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)
6g.24528013A>GCA362977975ALDH5A1c.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)
6g.24528013A>TCA362977977ALDH5A1c.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)
6g.24528014T>ACA362977981ALDH5A1c.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)
6g.24528014T>CCA448787416ALDH5A1c.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=)
6g.24528014T>GCA136139251ALDH5A1c.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
6g.24528014T=CA1616534934ALDH5A1c.1191T= (p.Asn397=)
n.306T=
c.810T= (p.Asn270=)
c.1154T=
c.1230T= (p.Asn410=)
c.1107T= (p.Asn369=)
c.1047T= (p.Asn349=)
6g.24528015G>ACA362977982ALDH5A1c.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)
6g.24528015G>CCA136139254ALDH5A1c.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
6g.24528015G=CA1616534935ALDH5A1c.1192G= (p.Asp398=)
n.307G=
c.811G= (p.Asp271=)
c.1155G=
c.1231G= (p.Asp411=)
c.1108G= (p.Asp370=)
c.1048G= (p.Asp350=)
6g.24528015G>TCA362977983ALDH5A1c.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)
6g.24528016A>CCA362977985ALDH5A1c.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)
6g.24528016A>GCA362977988ALDH5A1c.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)
6g.24528016A>TCA362977986ALDH5A1c.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)
6g.24528017delCA645560208ALDH5A1c.1194del (p.Asp398GlufsTer10)
n.309del
c.813del (p.Asp271GlufsTer10)
c.1157del
c.1233del (p.Asp411GlufsTer10)
c.1110del (p.Asp370GlufsTer10)
c.1050del (p.Asp350GlufsTer10)
COSMIC
6g.24528017T>ACA362977990ALDH5A1c.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)
6g.24528017T>CCA448787421ALDH5A1c.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=)
6g.24528017T>GCA362977992ALDH5A1c.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)
6g.24528018G>ACA362977994ALDH5A1c.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
6g.24528018G>CCA362977997ALDH5A1c.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)
6g.24528018G>TCA362977998ALDH5A1c.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)
6g.24528019C>ACA362978000ALDH5A1c.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)
6g.24528019C>GCA362978002ALDH5A1c.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)
6g.24528019C>TCA362978004ALDH5A1c.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)
6g.24528024_24528041delCA2677529433ALDH5A1c.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
6g.24528020C>ACA3656879ALDH5A1c.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
6g.24528020C=CA1616534936ALDH5A1c.1197C= (p.Ala399=)
n.312C=
c.816C= (p.Ala272=)
c.1160C=
c.1236C= (p.Ala412=)
c.1113C= (p.Ala371=)
c.1053C= (p.Ala351=)
6g.24528020C>GCA448787428ALDH5A1c.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=)
6g.24528020C>TCA448787427ALDH5A1c.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
6g.24528021G>ACA3656880ALDH5A1c.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
6g.24528021G>CCA362978012ALDH5A1c.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)
6g.24528021G=CA1616534937ALDH5A1c.1198G= (p.Val400=)
n.313G=
c.817G= (p.Val273=)
c.1161G=
c.1237G= (p.Val413=)
c.1114G= (p.Val372=)
c.1054G= (p.Val352=)
6g.24528021G>TCA362978013ALDH5A1c.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)
6g.24528022T>ACA3656881ALDH5A1c.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
6g.24528022T>CCA362978016ALDH5A1c.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)
6g.24528022T>GCA362978014ALDH5A1c.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)
6g.24528022T=CA1616534938ALDH5A1c.1199T= (p.Val400=)
n.314T=
c.818T= (p.Val273=)
c.1162T=
c.1238T= (p.Val413=)
c.1115T= (p.Val372=)
c.1055T= (p.Val352=)
6g.24528023T>ACA448787434ALDH5A1c.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=)
6g.24528023T>CCA448787436ALDH5A1c.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=)
6g.24528023T>GCA448787437ALDH5A1c.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=)
6g.24528024T>ACA362978018ALDH5A1c.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)
6g.24528024T>CCA362978020ALDH5A1c.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)
6g.24528024T>GCA362978022ALDH5A1c.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)
6g.24528025C>ACA362978024ALDH5A1c.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)
6g.24528025C>GCA362978028ALDH5A1c.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)
6g.24528025C>TCA362978031ALDH5A1c.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)
6g.24528026T>ACA448787443ALDH5A1c.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=)
6g.24528026T>CCA448787444ALDH5A1c.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=)
6g.24528026T>GCA448787446ALDH5A1c.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=)
6g.24528027A>CCA362978036ALDH5A1c.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)
6g.24528027A>GCA362978039ALDH5A1c.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)
6g.24528027A>TCA362978044ALDH5A1c.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)
6g.24528028A>CCA362978050ALDH5A1c.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)
6g.24528028A>GCA362978052ALDH5A1c.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)
6g.24528028A>TCA362978054ALDH5A1c.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)
6g.24528029A>CCA362978059ALDH5A1c.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)
6g.24528029A>GCA448787450ALDH5A1c.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=)
6g.24528029A>TCA362978056ALDH5A1c.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)
6g.24528030G>ACA362978062ALDH5A1c.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
6g.24528030G>CCA362978063ALDH5A1c.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
6g.24528030G=CA1616534939ALDH5A1c.1207G= (p.Gly403=)
n.322G=
c.826G= (p.Gly276=)
c.1170G=
c.1246G= (p.Gly416=)
c.1123G= (p.Gly375=)
c.1063G= (p.Gly355=)
6g.24528030G>TCA362978064ALDH5A1c.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)
6g.24528031G>ACA362978066ALDH5A1c.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)
6g.24528031G>CCA362978068ALDH5A1c.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)
6g.24528031G>TCA362978069ALDH5A1c.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)
6g.24528032T>ACA448787457ALDH5A1c.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=)
6g.24528032T>CCA448787458ALDH5A1c.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=)
6g.24528032T>GCA448787459ALDH5A1c.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=)
6g.24528033G>ACA362978071ALDH5A1c.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
6g.24528033G>CCA362978073ALDH5A1c.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)
6g.24528033G=CA1616534940ALDH5A1c.1210G= (p.Ala404=)
n.325G=
c.829G= (p.Ala277=)
c.1173G=
c.1249G= (p.Ala417=)
c.1126G= (p.Ala376=)
c.1066G= (p.Ala356=)
6g.24528033G>TCA362978076ALDH5A1c.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)
6g.24528034C>ACA362978079ALDH5A1c.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)
6g.24528034C=CA1616534941ALDH5A1c.1211C= (p.Ala404=)
n.326C=
c.830C= (p.Ala277=)
c.1174C=
c.1250C= (p.Ala417=)
c.1127C= (p.Ala376=)
c.1067C= (p.Ala356=)
6g.24528034C>GCA3656882ALDH5A1c.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
6g.24528034C>TCA362978087ALDH5A1c.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
6g.24528035C>ACA448787465ALDH5A1c.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=)
6g.24528035C>GCA448787466ALDH5A1c.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=)
6g.24528035C>TCA448787468ALDH5A1c.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
6g.24528036A=CA1616534942ALDH5A1c.1213A= (p.Thr405=)
n.328A=
c.832A= (p.Thr278=)
c.1176A=
c.1252A= (p.Thr418=)
c.1129A= (p.Thr377=)
c.1069A= (p.Thr357=)
6g.24528036A>CCA362978095ALDH5A1c.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)
6g.24528036A>GCA362978092ALDH5A1c.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
6g.24528036A>TCA362978091ALDH5A1c.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)
6g.24528037C>ACA362978097ALDH5A1c.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
6g.24528037C>GCA362978105ALDH5A1c.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)
6g.24528037C>TCA362978100ALDH5A1c.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)
6g.24528038dupCA2695206042ALDH5A1c.1215dup (p.Val406ArgfsTer16)
n.330dup
c.834dup (p.Val279ArgfsTer16)
c.1178dup
c.1254dup (p.Val419ArgfsTer16)
c.1131dup (p.Val378ArgfsTer16)
c.1071dup (p.Val358ArgfsTer16)
6g.24528038C>ACA448787474ALDH5A1c.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
6g.24528038C=CA1616534943ALDH5A1c.1215C= (p.Thr405=)
n.330C=
c.834C= (p.Thr278=)
c.1178C=
c.1254C= (p.Thr418=)
c.1131C= (p.Thr377=)
c.1071C= (p.Thr357=)
6g.24528038C>GCA448787476ALDH5A1c.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=)
6g.24528038C>TCA136139289ALDH5A1c.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
6g.24528039G>ACA3656883ALDH5A1c.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
6g.24528039G>CCA362978112ALDH5A1c.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)
6g.24528039G=CA1616534944ALDH5A1c.1216G= (p.Val406=)
n.331G=
c.835G= (p.Val279=)
c.1179G=
c.1255G= (p.Val419=)
c.1132G= (p.Val378=)
c.1072G= (p.Val358=)
6g.24528039G>TCA362978115ALDH5A1c.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
6g.24528040T>ACA362978117ALDH5A1c.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)
6g.24528040T>CCA3656884ALDH5A1c.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
6g.24528040T>GCA362978123ALDH5A1c.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)
6g.24528040T=CA1616534945ALDH5A1c.1217T= (p.Val406=)
n.332T=
c.836T= (p.Val279=)
c.1180T=
c.1256T= (p.Val419=)
c.1133T= (p.Val378=)
c.1073T= (p.Val358=)
6g.24528041T>ACA448787482ALDH5A1c.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=)
6g.24528041T>CCA448787484ALDH5A1c.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=)
6g.24528041T>GCA448787485ALDH5A1c.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=)
6g.24528042G>ACA362978128ALDH5A1c.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)
6g.24528042G>CCA362978131ALDH5A1c.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)
6g.24528042G>TCA362978134ALDH5A1c.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)
6g.24528043T>ACA362978147ALDH5A1c.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)
6g.24528043T>CCA362978145ALDH5A1c.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)
6g.24528043T>GCA362978138ALDH5A1c.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
6g.24528044G>ACA448787491ALDH5A1c.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=)
6g.24528044G>CCA448787493ALDH5A1c.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=)
6g.24528044G>TCA448787494ALDH5A1c.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=)
6g.24528045A>CCA362978157ALDH5A1c.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)
6g.24528045A>GCA362978159ALDH5A1c.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)
6g.24528045A>TCA362978162ALDH5A1c.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)
6g.24528046C>ACA362978169ALDH5A1c.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)
6g.24528046C=CA1616534946ALDH5A1c.1223C= (p.Thr408=)
n.338C=
c.842C= (p.Thr281=)
c.1186C=
c.1262C= (p.Thr421=)
c.1139C= (p.Thr380=)
c.1079C= (p.Thr360=)
6g.24528046C>GCA3656885ALDH5A1c.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
6g.24528046C>TCA362978176ALDH5A1c.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)
6g.24528047A>CCA448787499ALDH5A1c.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=)
6g.24528047A>GCA448787501ALDH5A1c.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=)
6g.24528047A>TCA448787503ALDH5A1c.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=)
6g.24528048G>ACA362978204ALDH5A1c.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)
6g.24528048G>CCA362978211ALDH5A1c.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)
6g.24528048G>TCA362978215ALDH5A1c.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)
6g.24528049G>ACA251762ALDH5A1c.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
6g.24528049G>CCA362978221ALDH5A1c.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)
6g.24528049G=CA1616534947ALDH5A1c.1226G= (p.Gly409=)
n.341G=
c.845G= (p.Gly282=)
c.1189G=
c.1265G= (p.Gly422=)
c.1142G= (p.Gly381=)
c.1082G= (p.Gly361=)
6g.24528049G>TCA362978226ALDH5A1c.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
6g.24528050T>ACA448787508ALDH5A1c.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=)
6g.24528050T>CCA448787507ALDH5A1c.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=)
6g.24528050T>GCA448787506ALDH5A1c.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=)
6g.24528051G>ACA362978245ALDH5A1c.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)
6g.24528051G>CCA362978249ALDH5A1c.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)
6g.24528051G>TCA362978232ALDH5A1c.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)
6g.24528052G>ACA362978252ALDH5A1c.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)
6g.24528052G>CCA362978253ALDH5A1c.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)
6g.24528052G>TCA362978255ALDH5A1c.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)
6g.24528053A>CCA448787513ALDH5A1c.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=)
6g.24528053A>GCA448787515ALDH5A1c.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=)
6g.24528053A>TCA448787516ALDH5A1c.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=)
6g.24528054A>CCA362978260ALDH5A1c.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)
6g.24528054A>GCA362978261ALDH5A1c.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)
6g.24528054A>TCA362978264ALDH5A1c.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)
6g.24528055A>CCA362978266ALDH5A1c.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)
6g.24528055A>GCA362978268ALDH5A1c.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
6g.24528055A>TCA362978271ALDH5A1c.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)
6g.24528056A>CCA362978272ALDH5A1c.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)
6g.24528056A>GCA448787522ALDH5A1c.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=)
6g.24528056A>TCA362978273ALDH5A1c.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)
6g.24528057C>ACA448787524ALDH5A1c.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=)
6g.24528057C=CA1616534948ALDH5A1c.1234C= (p.Arg412=)
n.349C=
c.853C= (p.Arg285=)
c.1197C=
c.1273C= (p.Arg425=)
c.1150C= (p.Arg384=)
c.1090C= (p.Arg364=)
6g.24528057C>GCA362978274ALDH5A1c.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)
6g.24528057C>TCA251759ALDH5A1c.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
6g.24528058G>ACA3656886ALDH5A1c.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
6g.24528058G>CCA362978281ALDH5A1c.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)
6g.24528058G=CA1616534949ALDH5A1c.1235G= (p.Arg412=)
n.350G=
c.854G= (p.Arg285=)
c.1198G=
c.1274G= (p.Arg425=)
c.1151G= (p.Arg384=)
c.1091G= (p.Arg364=)
6g.24528058G>TCA362978279ALDH5A1c.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
6g.24528059A>CCA448787528ALDH5A1c.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=)
6g.24528059A>GCA448787530ALDH5A1c.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=)
6g.24528059A>TCA448787531ALDH5A1c.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=)
6g.24528060C>ACA362978288ALDH5A1c.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)
6g.24528060C>GCA362978293ALDH5A1c.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)
6g.24528060C>TCA362978295ALDH5A1c.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)
6g.24528061A>CCA362978296ALDH5A1c.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)
6g.24528061A>GCA362978297ALDH5A1c.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)
6g.24528061A>TCA362978298ALDH5A1c.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)
6g.24528062C>ACA362978301ALDH5A1c.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)
6g.24528062C>GCA362978303ALDH5A1c.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)
6g.24528062C>TCA448787537ALDH5A1c.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=)
6g.24528063C>ACA362978308ALDH5A1c.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)
6g.24528063C=CA1616534950ALDH5A1c.1240C= (p.Gln414=)
n.355C=
c.859C= (p.Gln287=)
c.1203C=
c.1279C= (p.Gln427=)
c.1156C= (p.Gln386=)
c.1096C= (p.Gln366=)
6g.24528063C>GCA362978316ALDH5A1c.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)
6g.24528063C>TCA362978319ALDH5A1c.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
6g.24528064A>CCA362978322ALDH5A1c.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)
6g.24528064A>GCA362978324ALDH5A1c.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)
6g.24528064A>TCA362978325ALDH5A1c.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)
6g.24528065A>CCA362978335ALDH5A1c.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)
6g.24528065A>GCA448787542ALDH5A1c.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
6g.24528065A>TCA362978337ALDH5A1c.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
6g.24528066C>ACA362978341ALDH5A1c.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
6g.24528066C=CA1616534951ALDH5A1c.1243C= (p.Leu415=)
n.358C=
c.862C= (p.Leu288=)
c.1206C=
c.1282C= (p.Leu428=)
c.1159C= (p.Leu387=)
c.1099C= (p.Leu367=)
6g.24528066C>GCA362978346ALDH5A1c.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)
6g.24528066C>TCA362978343ALDH5A1c.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)
6g.24528067T>ACA362978350ALDH5A1c.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)
6g.24528067T>CCA362978358ALDH5A1c.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)
6g.24528067T>GCA362978355ALDH5A1c.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)
6g.24528068T>ACA448787549ALDH5A1c.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=)
6g.24528068T>CCA448787550ALDH5A1c.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=)
6g.24528068T>GCA3656887ALDH5A1c.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
6g.24528068T=CA1616534952ALDH5A1c.1245T= (p.Leu415=)
n.360T=
c.864T= (p.Leu288=)
c.1208T=
c.1284T= (p.Leu428=)
c.1161T= (p.Leu387=)
c.1101T= (p.Leu367=)
6g.24528069G>ACA362978368ALDH5A1c.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
6g.24528069G>CCA362978365ALDH5A1c.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)
6g.24528069G>TCA362978370ALDH5A1c.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)
6g.24528070G>ACA362978374ALDH5A1c.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
6g.24528070G>CCA362978376ALDH5A1c.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)
6g.24528070G>TCA362978379ALDH5A1c.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)
6g.24528071A>CCA448787555ALDH5A1c.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=)
6g.24528071A>GCA448787556ALDH5A1c.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=)
6g.24528071A>TCA448787558ALDH5A1c.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=)
6g.24528076delCA2580074249ALDH5A1c.1253del (p.Asn418IlefsTer?)
n.368del
c.872del (p.Asn291IlefsTer?)
c.1216del
c.1292del (p.Asn431IlefsTer?)
c.1169del (p.Asn390IlefsTer?)
c.1109del (p.Asn370IlefsTer?)
ClinVar
6g.24528072A>CCA362978384ALDH5A1c.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)
6g.24528072A>GCA362978399ALDH5A1c.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
6g.24528072A>TCA362978403ALDH5A1c.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)
6g.24528073A=CA1616534953ALDH5A1c.1250A= (p.Lys417=)
n.365A=
c.869A= (p.Lys290=)
c.1213A=
c.1289A= (p.Lys430=)
c.1166A= (p.Lys389=)
c.1106A= (p.Lys369=)
6g.24528073A>CCA362978406ALDH5A1c.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)
6g.24528073A>GCA3656888ALDH5A1c.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
6g.24528073A>TCA362978410ALDH5A1c.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)
6g.24528074A>CCA362978423ALDH5A1c.1251A>C (p.Lys417Asn)
n.366A>C
c.870A>C (p.Lys290Asn)
c.1214A>C
c.1290A>C (p.Lys430Asn)
c.1167A>C (p.Lys389Asn)
c.1107A>C (p.Lys369Asn)
6g.24528074A>GCA448787564ALDH5A1c.1251A>G (p.Lys417=)
n.366A>G
c.870A>G (p.Lys290=)
c.1214A>G
c.1290A>G (p.Lys430=)
c.1167A>G (p.Lys389=)
c.1107A>G (p.Lys369=)
gnomAD v4
6g.24528074A>TCA362978426ALDH5A1c.1251A>T (p.Lys417Asn)
n.366A>T
c.870A>T (p.Lys290Asn)
c.1214A>T
c.1290A>T (p.Lys430Asn)
c.1167A>T (p.Lys389Asn)
c.1107A>T (p.Lys369Asn)
6g.24528075A=CA1616534954ALDH5A1c.1252A= (p.Asn418=)
n.367A=
c.871A= (p.Asn291=)
c.1215A=
c.1291A= (p.Asn431=)
c.1168A= (p.Asn390=)
c.1108A= (p.Asn370=)
6g.24528075A>CCA3656889ALDH5A1c.1252A>C (p.Asn418His)
n.367A>C
c.871A>C (p.Asn291His)
c.1215A>C
c.1291A>C (p.Asn431His)
c.1168A>C (p.Asn390His)
c.1108A>C (p.Asn370His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.24528075A>GCA362978434ALDH5A1c.1252A>G (p.Asn418Asp)
n.367A>G
c.871A>G (p.Asn291Asp)
c.1215A>G
c.1291A>G (p.Asn431Asp)
c.1168A>G (p.Asn390Asp)
c.1108A>G (p.Asn370Asp)
6g.24528075A>TCA362978431ALDH5A1c.1252A>T (p.Asn418Tyr)
n.367A>T
c.871A>T (p.Asn291Tyr)
c.1215A>T
c.1291A>T (p.Asn431Tyr)
c.1168A>T (p.Asn390Tyr)
c.1108A>T (p.Asn370Tyr)
6g.24528076A>CCA362978435ALDH5A1c.1253A>C (p.Asn418Thr)
n.368A>C
c.872A>C (p.Asn291Thr)
c.1216A>C
c.1292A>C (p.Asn431Thr)
c.1169A>C (p.Asn390Thr)
c.1109A>C (p.Asn370Thr)
6g.24528076A>GCA362978437ALDH5A1c.1253A>G (p.Asn418Ser)
n.368A>G
c.872A>G (p.Asn291Ser)
c.1216A>G
c.1292A>G (p.Asn431Ser)
c.1169A>G (p.Asn390Ser)
c.1109A>G (p.Asn370Ser)
6g.24528076A>TCA362978440ALDH5A1c.1253A>T (p.Asn418Ile)
n.368A>T
c.872A>T (p.Asn291Ile)
c.1216A>T
c.1292A>T (p.Asn431Ile)
c.1169A>T (p.Asn390Ile)
c.1109A>T (p.Asn370Ile)
6g.24528076_24528077delinsATCA1616534955ALDH5A1c.1253_1254delinsAT (p.Asn418=)
n.368_369delinsAT
c.872_873delinsAT (p.Asn291=)
c.1216_1217delinsAT
c.1292_1293delinsAT (p.Asn431=)
c.1169_1170delinsAT (p.Asn390=)
c.1109_1110delinsAT (p.Asn370=)
6g.24528077T>ACA362978444ALDH5A1c.1254T>A (p.Asn418Lys)
n.369T>A
c.873T>A (p.Asn291Lys)
c.1217T>A
c.1293T>A (p.Asn431Lys)
c.1170T>A (p.Asn390Lys)
c.1110T>A (p.Asn370Lys)
6g.24528077T>CCA448787570ALDH5A1c.1254T>C (p.Asn418=)
n.369T>C
c.873T>C (p.Asn291=)
c.1217T>C
c.1293T>C (p.Asn431=)
c.1170T>C (p.Asn390=)
c.1110T>C (p.Asn370=)
dbSNP gnomAD v2 gnomAD v4
6g.24528077T>GCA362978447ALDH5A1c.1254T>G (p.Asn418Lys)
n.369T>G
c.873T>G (p.Asn291Lys)
c.1217T>G
c.1293T>G (p.Asn431Lys)
c.1170T>G (p.Asn390Lys)
c.1110T>G (p.Asn370Lys)
6g.24528077T=CA1616534956ALDH5A1c.1254T= (p.Asn418=)
n.369T=
c.873T= (p.Asn291=)
c.1217T=
c.1293T= (p.Asn431=)
c.1170T= (p.Asn390=)
c.1110T= (p.Asn370=)
6g.24528079delCA3656890ALDH5A1c.1256del (p.Phe419SerfsTer?)
n.371del
c.875del (p.Phe292SerfsTer?)
c.1219del
c.1295del (p.Phe432SerfsTer?)
c.1172del (p.Phe391SerfsTer?)
c.1112del (p.Phe371SerfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24528078T>ACA362978453ALDH5A1c.1255T>A (p.Phe419Ile)
n.370T>A
c.874T>A (p.Phe292Ile)
c.1218T>A
c.1294T>A (p.Phe432Ile)
c.1171T>A (p.Phe391Ile)
c.1111T>A (p.Phe371Ile)
6g.24528078T>CCA362978456ALDH5A1c.1255T>C (p.Phe419Leu)
n.370T>C
c.874T>C (p.Phe292Leu)
c.1218T>C
c.1294T>C (p.Phe432Leu)
c.1171T>C (p.Phe391Leu)
c.1111T>C (p.Phe371Leu)
6g.24528078T>GCA362978458ALDH5A1c.1255T>G (p.Phe419Val)
n.370T>G
c.874T>G (p.Phe292Val)
c.1218T>G
c.1294T>G (p.Phe432Val)
c.1171T>G (p.Phe391Val)
c.1111T>G (p.Phe371Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24528078T=CA1616534957ALDH5A1c.1255T= (p.Phe419=)
n.370T=
c.874T= (p.Phe292=)
c.1218T=
c.1294T= (p.Phe432=)
c.1171T= (p.Phe391=)
c.1111T= (p.Phe371=)
6g.24528079T>ACA362978463ALDH5A1c.1256T>A (p.Phe419Tyr)
n.371T>A
c.875T>A (p.Phe292Tyr)
c.1219T>A
c.1295T>A (p.Phe432Tyr)
c.1172T>A (p.Phe391Tyr)
c.1112T>A (p.Phe371Tyr)
6g.24528079T>CCA362978468ALDH5A1c.1256T>C (p.Phe419Ser)
n.371T>C
c.875T>C (p.Phe292Ser)
c.1219T>C
c.1295T>C (p.Phe432Ser)
c.1172T>C (p.Phe391Ser)
c.1112T>C (p.Phe371Ser)
6g.24528079T>GCA362978471ALDH5A1c.1256T>G (p.Phe419Cys)
n.371T>G
c.875T>G (p.Phe292Cys)
c.1219T>G
c.1295T>G (p.Phe432Cys)
c.1172T>G (p.Phe391Cys)
c.1112T>G (p.Phe371Cys)
6g.24528080C>ACA3656891ALDH5A1c.1257C>A (p.Phe419Leu)
n.372C>A
c.876C>A (p.Phe292Leu)
c.1220C>A
c.1296C>A (p.Phe432Leu)
c.1173C>A (p.Phe391Leu)
c.1113C>A (p.Phe371Leu)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
6g.24528080C=CA1616534958ALDH5A1c.1257C= (p.Phe419=)
n.372C=
c.876C= (p.Phe292=)
c.1220C=
c.1296C= (p.Phe432=)
c.1173C= (p.Phe391=)
c.1113C= (p.Phe371=)
6g.24528080C>GCA362978481ALDH5A1c.1257C>G (p.Phe419Leu)
n.372C>G
c.876C>G (p.Phe292Leu)
c.1220C>G
c.1296C>G (p.Phe432Leu)
c.1173C>G (p.Phe391Leu)
c.1113C>G (p.Phe371Leu)
6g.24528080C>TCA448787577ALDH5A1c.1257C>T (p.Phe419=)
n.372C>T
c.876C>T (p.Phe292=)
c.1220C>T
c.1296C>T (p.Phe432=)
c.1173C>T (p.Phe391=)
c.1113C>T (p.Phe371=)
6g.24528081T>ACA362978482ALDH5A1c.1258T>A (p.Phe420Ile)
n.373T>A
c.877T>A (p.Phe293Ile)
c.1221T>A
c.1297T>A (p.Phe433Ile)
c.1174T>A (p.Phe392Ile)
c.1114T>A (p.Phe372Ile)
6g.24528081T>CCA362978483ALDH5A1c.1258T>C (p.Phe420Leu)
n.373T>C
c.877T>C (p.Phe293Leu)
c.1221T>C
c.1297T>C (p.Phe433Leu)
c.1174T>C (p.Phe392Leu)
c.1114T>C (p.Phe372Leu)
6g.24528081T>GCA362978484ALDH5A1c.1258T>G (p.Phe420Val)
n.373T>G
c.877T>G (p.Phe293Val)
c.1221T>G
c.1297T>G (p.Phe433Val)
c.1174T>G (p.Phe392Val)
c.1114T>G (p.Phe372Val)
6g.24528082T>ACA362978488ALDH5A1c.1259T>A (p.Phe420Tyr)
n.374T>A
c.878T>A (p.Phe293Tyr)
c.1222T>A
c.1298T>A (p.Phe433Tyr)
c.1175T>A (p.Phe392Tyr)
c.1115T>A (p.Phe372Tyr)
6g.24528082T>CCA362978489ALDH5A1c.1259T>C (p.Phe420Ser)
n.374T>C
c.878T>C (p.Phe293Ser)
c.1222T>C
c.1298T>C (p.Phe433Ser)
c.1175T>C (p.Phe392Ser)
c.1115T>C (p.Phe372Ser)
6g.24528082T>GCA362978504ALDH5A1c.1259T>G (p.Phe420Cys)
n.374T>G
c.878T>G (p.Phe293Cys)
c.1222T>G
c.1298T>G (p.Phe433Cys)
c.1175T>G (p.Phe392Cys)
c.1115T>G (p.Phe372Cys)
6g.24528083T>ACA362978511ALDH5A1c.1260T>A (p.Phe420Leu)
n.375T>A
c.879T>A (p.Phe293Leu)
c.1223T>A
c.1299T>A (p.Phe433Leu)
c.1176T>A (p.Phe392Leu)
c.1116T>A (p.Phe372Leu)
6g.24528083T>CCA448787584ALDH5A1c.1260T>C (p.Phe420=)
n.375T>C
c.879T>C (p.Phe293=)
c.1223T>C
c.1299T>C (p.Phe433=)
c.1176T>C (p.Phe392=)
c.1116T>C (p.Phe372=)
6g.24528083T>GCA362978516ALDH5A1c.1260T>G (p.Phe420Leu)
n.375T>G
c.879T>G (p.Phe293Leu)
c.1223T>G
c.1299T>G (p.Phe433Leu)
c.1176T>G (p.Phe392Leu)
c.1116T>G (p.Phe372Leu)
6g.24528084G>ACA362978521ALDH5A1c.1261G>A (p.Glu421Lys)
n.376G>A
c.880G>A (p.Glu294Lys)
c.1224G>A
c.1300G>A (p.Glu434Lys)
c.1177G>A (p.Glu393Lys)
c.1117G>A (p.Glu373Lys)
6g.24528084G>CCA362978522ALDH5A1c.1261G>C (p.Glu421Gln)
n.376G>C
c.880G>C (p.Glu294Gln)
c.1224G>C
c.1300G>C (p.Glu434Gln)
c.1177G>C (p.Glu393Gln)
c.1117G>C (p.Glu373Gln)
6g.24528084G>TCA362978523ALDH5A1c.1261G>T (p.Glu421Ter)
n.376G>T
c.880G>T (p.Glu294Ter)
c.1224G>T
c.1300G>T (p.Glu434Ter)
c.1177G>T (p.Glu393Ter)
c.1117G>T (p.Glu373Ter)
6g.24528085A>CCA362978528ALDH5A1c.1262A>C (p.Glu421Ala)
n.377A>C
c.881A>C (p.Glu294Ala)
c.1225A>C
c.1301A>C (p.Glu434Ala)
c.1178A>C (p.Glu393Ala)
c.1118A>C (p.Glu373Ala)
6g.24528085A>GCA362978526ALDH5A1c.1262A>G (p.Glu421Gly)
n.377A>G
c.881A>G (p.Glu294Gly)
c.1225A>G
c.1301A>G (p.Glu434Gly)
c.1178A>G (p.Glu393Gly)
c.1118A>G (p.Glu373Gly)
6g.24528085A>TCA362978524ALDH5A1c.1262A>T (p.Glu421Val)
n.377A>T
c.881A>T (p.Glu294Val)
c.1225A>T
c.1301A>T (p.Glu434Val)
c.1178A>T (p.Glu393Val)
c.1118A>T (p.Glu373Val)
6g.24528086G>ACA136139361ALDH5A1c.1263G>A (p.Glu421=)
n.378G>A
c.882G>A (p.Glu294=)
c.1226G>A
c.1302G>A (p.Glu434=)
c.1179G>A (p.Glu393=)
c.1119G>A (p.Glu373=)
dbSNP COSMIC
6g.24528086G>CCA362978531ALDH5A1c.1263G>C (p.Glu421Asp)
n.378G>C
c.882G>C (p.Glu294Asp)
c.1226G>C
c.1302G>C (p.Glu434Asp)
c.1179G>C (p.Glu393Asp)
c.1119G>C (p.Glu373Asp)
6g.24528086G=CA1616534959ALDH5A1c.1263G= (p.Glu421=)
n.378G=
c.882G= (p.Glu294=)
c.1226G=
c.1302G= (p.Glu434=)
c.1179G= (p.Glu393=)
c.1119G= (p.Glu373=)
6g.24528086G>TCA362978533ALDH5A1c.1263G>T (p.Glu421Asp)
n.378G>T
c.882G>T (p.Glu294Asp)
c.1226G>T
c.1302G>T (p.Glu434Asp)
c.1179G>T (p.Glu393Asp)
c.1119G>T (p.Glu373Asp)
6g.24528087C>ACA362978539ALDH5A1c.1264C>A (p.Pro422Thr)
n.379C>A
c.883C>A (p.Pro295Thr)
c.1227C>A
c.1303C>A (p.Pro435Thr)
c.1180C>A (p.Pro394Thr)
c.1120C>A (p.Pro374Thr)
6g.24528087C=CA1616534960ALDH5A1c.1264C= (p.Pro422=)
n.379C=
c.883C= (p.Pro295=)
c.1227C=
c.1303C= (p.Pro435=)
c.1180C= (p.Pro394=)
c.1120C= (p.Pro374=)
6g.24528087C>GCA362978540ALDH5A1c.1264C>G (p.Pro422Ala)
n.379C>G
c.883C>G (p.Pro295Ala)
c.1227C>G
c.1303C>G (p.Pro435Ala)
c.1180C>G (p.Pro394Ala)
c.1120C>G (p.Pro374Ala)
dbSNP gnomAD v3 gnomAD v4
6g.24528087C>TCA3656892ALDH5A1c.1264C>T (p.Pro422Ser)
n.379C>T
c.883C>T (p.Pro295Ser)
c.1227C>T
c.1303C>T (p.Pro435Ser)
c.1180C>T (p.Pro394Ser)
c.1120C>T (p.Pro374Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24528088C>ACA362978541ALDH5A1c.1265C>A (p.Pro422His)
n.380C>A
c.884C>A (p.Pro295His)
c.1228C>A
c.1304C>A (p.Pro435His)
c.1181C>A (p.Pro394His)
c.1121C>A (p.Pro374His)
6g.24528088C>GCA362978543ALDH5A1c.1265C>G (p.Pro422Arg)
n.380C>G
c.884C>G (p.Pro295Arg)
c.1228C>G
c.1304C>G (p.Pro435Arg)
c.1181C>G (p.Pro394Arg)
c.1121C>G (p.Pro374Arg)
6g.24528088C>TCA362978544ALDH5A1c.1265C>T (p.Pro422Leu)
n.380C>T
c.884C>T (p.Pro295Leu)
c.1228C>T
c.1304C>T (p.Pro435Leu)
c.1181C>T (p.Pro394Leu)
c.1121C>T (p.Pro374Leu)
6g.24528089T>ACA448787594ALDH5A1c.1266T>A (p.Pro422=)
n.381T>A
c.885T>A (p.Pro295=)
c.1229T>A
c.1305T>A (p.Pro435=)
c.1182T>A (p.Pro394=)
c.1122T>A (p.Pro374=)
6g.24528089T>CCA448787595ALDH5A1c.1266T>C (p.Pro422=)
n.381T>C
c.885T>C (p.Pro295=)
c.1229T>C
c.1305T>C (p.Pro435=)
c.1182T>C (p.Pro394=)
c.1122T>C (p.Pro374=)
COSMIC
6g.24528089T>GCA448787596ALDH5A1c.1266T>G (p.Pro422=)
n.381T>G
c.885T>G (p.Pro295=)
c.1229T>G
c.1305T>G (p.Pro435=)
c.1182T>G (p.Pro394=)
c.1122T>G (p.Pro374=)
6g.24528090A=CA1616534961ALDH5A1c.1267A= (p.Thr423=)
n.382A=
c.886A= (p.Thr296=)
c.1230A=
c.1306A= (p.Thr436=)
c.1183A= (p.Thr395=)
c.1123A= (p.Thr375=)
6g.24528090A>CCA362978546ALDH5A1c.1267A>C (p.Thr423Pro)
n.382A>C
c.886A>C (p.Thr296Pro)
c.1230A>C
c.1306A>C (p.Thr436Pro)
c.1183A>C (p.Thr395Pro)
c.1123A>C (p.Thr375Pro)
6g.24528090A>GCA362978548ALDH5A1c.1267A>G (p.Thr423Ala)
n.382A>G
c.886A>G (p.Thr296Ala)
c.1230A>G
c.1306A>G (p.Thr436Ala)
c.1183A>G (p.Thr395Ala)
c.1123A>G (p.Thr375Ala)
ClinVar dbSNP gnomAD v4
6g.24528090A>TCA362978555ALDH5A1c.1267A>T (p.Thr423Ser)
n.382A>T
c.886A>T (p.Thr296Ser)
c.1230A>T
c.1306A>T (p.Thr436Ser)
c.1183A>T (p.Thr395Ser)
c.1123A>T (p.Thr375Ser)
ClinVar
6g.24528091C>ACA362978557ALDH5A1c.1268C>A (p.Thr423Asn)
n.383C>A
c.887C>A (p.Thr296Asn)
c.1231C>A
c.1307C>A (p.Thr436Asn)
c.1184C>A (p.Thr395Asn)
c.1124C>A (p.Thr375Asn)
6g.24528091C>GCA362978558ALDH5A1c.1268C>G (p.Thr423Ser)
n.383C>G
c.887C>G (p.Thr296Ser)
c.1231C>G
c.1307C>G (p.Thr436Ser)
c.1184C>G (p.Thr395Ser)
c.1124C>G (p.Thr375Ser)
6g.24528091C>TCA362978556ALDH5A1c.1268C>T (p.Thr423Ile)
n.383C>T
c.887C>T (p.Thr296Ile)
c.1231C>T
c.1307C>T (p.Thr436Ile)
c.1184C>T (p.Thr395Ile)
c.1124C>T (p.Thr375Ile)
6g.24528092C>ACA448787605ALDH5A1c.1269C>A (p.Thr423=)
n.384C>A
c.888C>A (p.Thr296=)
c.1232C>A
c.1308C>A (p.Thr436=)
c.1185C>A (p.Thr395=)
c.1125C>A (p.Thr375=)
6g.24528092C=CA1616534962ALDH5A1c.1269C= (p.Thr423=)
n.384C=
c.888C= (p.Thr296=)
c.1232C=
c.1308C= (p.Thr436=)
c.1185C= (p.Thr395=)
c.1125C= (p.Thr375=)
6g.24528092C>GCA448787604ALDH5A1c.1269C>G (p.Thr423=)
n.384C>G
c.888C>G (p.Thr296=)
c.1232C>G
c.1308C>G (p.Thr436=)
c.1185C>G (p.Thr395=)
c.1125C>G (p.Thr375=)
6g.24528092C>TCA448787602ALDH5A1c.1269C>T (p.Thr423=)
n.384C>T
c.888C>T (p.Thr296=)
c.1232C>T
c.1308C>T (p.Thr436=)
c.1185C>T (p.Thr395=)
c.1125C>T (p.Thr375=)
ClinVar dbSNP gnomAD v4
6g.24528093C>ACA362978565ALDH5A1c.1270C>A (p.Leu424Met)
n.385C>A
c.889C>A (p.Leu297Met)
c.1233C>A
c.1309C>A (p.Leu437Met)
c.1186C>A (p.Leu396Met)
c.1126C>A (p.Leu376Met)
6g.24528093C=CA1616534963ALDH5A1c.1270C= (p.Leu424=)
n.385C=
c.889C= (p.Leu297=)
c.1233C=
c.1309C= (p.Leu437=)
c.1186C= (p.Leu396=)
c.1126C= (p.Leu376=)
6g.24528093C>GCA362978562ALDH5A1c.1270C>G (p.Leu424Val)
n.385C>G
c.889C>G (p.Leu297Val)
c.1233C>G
c.1309C>G (p.Leu437Val)
c.1186C>G (p.Leu396Val)
c.1126C>G (p.Leu376Val)
6g.24528093C>TCA3656893ALDH5A1c.1270C>T (p.Leu424=)
n.385C>T
c.889C>T (p.Leu297=)
c.1233C>T
c.1309C>T (p.Leu437=)
c.1186C>T (p.Leu396=)
c.1126C>T (p.Leu376=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24528094T>ACA362978568ALDH5A1c.1271T>A (p.Leu424Gln)
n.386T>A
c.890T>A (p.Leu297Gln)
c.1234T>A
c.1310T>A (p.Leu437Gln)
c.1187T>A (p.Leu396Gln)
c.1127T>A (p.Leu376Gln)
6g.24528094T>CCA362978572ALDH5A1c.1271T>C (p.Leu424Pro)
n.386T>C
c.890T>C (p.Leu297Pro)
c.1234T>C
c.1310T>C (p.Leu437Pro)
c.1187T>C (p.Leu396Pro)
c.1127T>C (p.Leu376Pro)
6g.24528094T>GCA362978575ALDH5A1c.1271T>G (p.Leu424Arg)
n.386T>G
c.890T>G (p.Leu297Arg)
c.1234T>G
c.1310T>G (p.Leu437Arg)
c.1187T>G (p.Leu396Arg)
c.1127T>G (p.Leu376Arg)
6g.24528095G>ACA448787609ALDH5A1c.1272G>A (p.Leu424=)
n.387G>A
c.891G>A (p.Leu297=)
c.1235G>A
c.1311G>A (p.Leu437=)
c.1188G>A (p.Leu396=)
c.1128G>A (p.Leu376=)
dbSNP gnomAD v4
6g.24528095G>CCA448787610ALDH5A1c.1272G>C (p.Leu424=)
n.387G>C
c.891G>C (p.Leu297=)
c.1235G>C
c.1311G>C (p.Leu437=)
c.1188G>C (p.Leu396=)
c.1128G>C (p.Leu376=)
6g.24528095G=CA1616534964ALDH5A1c.1272G= (p.Leu424=)
n.387G=
c.891G= (p.Leu297=)
c.1235G=
c.1311G= (p.Leu437=)
c.1188G= (p.Leu396=)
c.1128G= (p.Leu376=)
6g.24528095G>TCA448787612ALDH5A1c.1272G>T (p.Leu424=)
n.387G>T
c.891G>T (p.Leu297=)
c.1235G>T
c.1311G>T (p.Leu437=)
c.1188G>T (p.Leu396=)
c.1128G>T (p.Leu376=)
6g.24528096C>ACA362978579ALDH5A1c.1273C>A (p.Leu425Met)
n.388C>A
c.892C>A (p.Leu298Met)
c.1236C>A
c.1312C>A (p.Leu438Met)
c.1189C>A (p.Leu397Met)
c.1129C>A (p.Leu377Met)
dbSNP
6g.24528096C=CA1616534965ALDH5A1c.1273C= (p.Leu425=)
n.388C=
c.892C= (p.Leu298=)
c.1236C=
c.1312C= (p.Leu438=)
c.1189C= (p.Leu397=)
c.1129C= (p.Leu377=)
6g.24528096C>GCA362978588ALDH5A1c.1273C>G (p.Leu425Val)
n.388C>G
c.892C>G (p.Leu298Val)
c.1236C>G
c.1312C>G (p.Leu438Val)
c.1189C>G (p.Leu397Val)
c.1129C>G (p.Leu377Val)
6g.24528096C>TCA448787614ALDH5A1c.1273C>T (p.Leu425=)
n.388C>T
c.892C>T (p.Leu298=)
c.1236C>T
c.1312C>T (p.Leu438=)
c.1189C>T (p.Leu397=)
c.1129C>T (p.Leu377=)
ClinVar
6g.24528097T>ACA362978592ALDH5A1c.1274T>A (p.Leu425Gln)
n.389T>A
c.893T>A (p.Leu298Gln)
c.1237T>A
c.1313T>A (p.Leu438Gln)
c.1190T>A (p.Leu397Gln)
c.1130T>A (p.Leu377Gln)
6g.24528097T>CCA362978594ALDH5A1c.1274T>C (p.Leu425Pro)
n.389T>C
c.893T>C (p.Leu298Pro)
c.1237T>C
c.1313T>C (p.Leu438Pro)
c.1190T>C (p.Leu397Pro)
c.1130T>C (p.Leu377Pro)
ClinVar
6g.24528097T>GCA362978596ALDH5A1c.1274T>G (p.Leu425Arg)
n.389T>G
c.893T>G (p.Leu298Arg)
c.1237T>G
c.1313T>G (p.Leu438Arg)
c.1190T>G (p.Leu397Arg)
c.1130T>G (p.Leu377Arg)

Number of alleles fetched