Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
6g.24528098G>ACA448787618ALDH5A1c.1275G>A (p.Leu425=)
n.390G>A
c.894G>A (p.Leu298=)
c.1238G>A
c.1314G>A (p.Leu438=)
c.1191G>A (p.Leu397=)
c.1131G>A (p.Leu377=)
6g.24528098G>CCA448787620ALDH5A1c.1275G>C (p.Leu425=)
n.390G>C
c.894G>C (p.Leu298=)
c.1238G>C
c.1314G>C (p.Leu438=)
c.1191G>C (p.Leu397=)
c.1131G>C (p.Leu377=)
6g.24528098G>TCA448787619ALDH5A1c.1275G>T (p.Leu425=)
n.390G>T
c.894G>T (p.Leu298=)
c.1238G>T
c.1314G>T (p.Leu438=)
c.1191G>T (p.Leu397=)
c.1131G>T (p.Leu377=)
6g.24528099T>ACA362978601ALDH5A1c.1276T>A (p.Cys426Ser)
n.391T>A
c.895T>A (p.Cys299Ser)
c.1239T>A
c.1315T>A (p.Cys439Ser)
c.1192T>A (p.Cys398Ser)
c.1132T>A (p.Cys378Ser)
6g.24528099T>CCA362978604ALDH5A1c.1276T>C (p.Cys426Arg)
n.391T>C
c.895T>C (p.Cys299Arg)
c.1239T>C
c.1315T>C (p.Cys439Arg)
c.1192T>C (p.Cys398Arg)
c.1132T>C (p.Cys378Arg)
6g.24528099T>GCA362978606ALDH5A1c.1276T>G (p.Cys426Gly)
n.391T>G
c.895T>G (p.Cys299Gly)
c.1239T>G
c.1315T>G (p.Cys439Gly)
c.1192T>G (p.Cys398Gly)
c.1132T>G (p.Cys378Gly)
6g.24528100G>ACA3656894ALDH5A1c.1277G>A (p.Cys426Tyr)
n.392G>A
c.896G>A (p.Cys299Tyr)
c.1240G>A
c.1316G>A (p.Cys439Tyr)
c.1193G>A (p.Cys398Tyr)
c.1133G>A (p.Cys378Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24528100G>CCA362978609ALDH5A1c.1277G>C (p.Cys426Ser)
n.392G>C
c.896G>C (p.Cys299Ser)
c.1240G>C
c.1316G>C (p.Cys439Ser)
c.1193G>C (p.Cys398Ser)
c.1133G>C (p.Cys378Ser)
6g.24528100G=CA1616534966ALDH5A1c.1277G= (p.Cys426=)
n.392G=
c.896G= (p.Cys299=)
c.1240G=
c.1316G= (p.Cys439=)
c.1193G= (p.Cys398=)
c.1133G= (p.Cys378=)
6g.24528100G>TCA362978614ALDH5A1c.1277G>T (p.Cys426Phe)
n.392G>T
c.896G>T (p.Cys299Phe)
c.1240G>T
c.1316G>T (p.Cys439Phe)
c.1193G>T (p.Cys398Phe)
c.1133G>T (p.Cys378Phe)
6g.24528101C>ACA362978625ALDH5A1c.1278C>A (p.Cys426Ter)
n.393C>A
c.897C>A (p.Cys299Ter)
c.1241C>A
c.1317C>A (p.Cys439Ter)
c.1194C>A (p.Cys398Ter)
c.1134C>A (p.Cys378Ter)
6g.24528101C>GCA362978628ALDH5A1c.1278C>G (p.Cys426Trp)
n.393C>G
c.897C>G (p.Cys299Trp)
c.1241C>G
c.1317C>G (p.Cys439Trp)
c.1194C>G (p.Cys398Trp)
c.1134C>G (p.Cys378Trp)
6g.24528101C>TCA448787627ALDH5A1c.1278C>T (p.Cys426=)
n.393C>T
c.897C>T (p.Cys299=)
c.1241C>T
c.1317C>T (p.Cys439=)
c.1194C>T (p.Cys398=)
c.1134C>T (p.Cys378=)
6g.24528102_24528109dupCA3656895ALDH5A1c.1279_1286dup (p.Gln430MetfsTer30)
n.394_401dup
c.898_905dup (p.Gln303MetfsTer30)
c.1242_1249dup
c.1318_1325dup (p.Gln443MetfsTer30)
c.1195_1202dup (p.Gln402MetfsTer30)
c.1135_1142dup (p.Gln382MetfsTer30)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24528102A=CA1616534967ALDH5A1c.1279A= (p.Asn427=)
n.394A=
c.898A= (p.Asn300=)
c.1242A=
c.1318A= (p.Asn440=)
c.1195A= (p.Asn399=)
c.1135A= (p.Asn379=)
6g.24528102A>CCA362978631ALDH5A1c.1279A>C (p.Asn427His)
n.394A>C
c.898A>C (p.Asn300His)
c.1242A>C
c.1318A>C (p.Asn440His)
c.1195A>C (p.Asn399His)
c.1135A>C (p.Asn379His)
 dbSNP gnomAD v3 gnomAD v4
6g.24528102A>GCA362978632ALDH5A1c.1279A>G (p.Asn427Asp)
n.394A>G
c.898A>G (p.Asn300Asp)
c.1242A>G
c.1318A>G (p.Asn440Asp)
c.1195A>G (p.Asn399Asp)
c.1135A>G (p.Asn379Asp)
 gnomAD v4
6g.24528102A>TCA362978635ALDH5A1c.1279A>T (p.Asn427Tyr)
n.394A>T
c.898A>T (p.Asn300Tyr)
c.1242A>T
c.1318A>T (p.Asn440Tyr)
c.1195A>T (p.Asn399Tyr)
c.1135A>T (p.Asn379Tyr)
6g.24528103A=CA1616534968ALDH5A1c.1280A= (p.Asn427=)
n.395A=
c.899A= (p.Asn300=)
c.1243A=
c.1319A= (p.Asn440=)
c.1196A= (p.Asn399=)
c.1136A= (p.Asn379=)
6g.24528103A>CCA362978638ALDH5A1c.1280A>C (p.Asn427Thr)
n.395A>C
c.899A>C (p.Asn300Thr)
c.1243A>C
c.1319A>C (p.Asn440Thr)
c.1196A>C (p.Asn399Thr)
c.1136A>C (p.Asn379Thr)
6g.24528103A>GCA3656896ALDH5A1c.1280A>G (p.Asn427Ser)
n.395A>G
c.899A>G (p.Asn300Ser)
c.1243A>G
c.1319A>G (p.Asn440Ser)
c.1196A>G (p.Asn399Ser)
c.1136A>G (p.Asn379Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24528103A>TCA362978644ALDH5A1c.1280A>T (p.Asn427Ile)
n.395A>T
c.899A>T (p.Asn300Ile)
c.1243A>T
c.1319A>T (p.Asn440Ile)
c.1196A>T (p.Asn399Ile)
c.1136A>T (p.Asn379Ile)
6g.24528104T>ACA362978647ALDH5A1c.1281T>A (p.Asn427Lys)
n.396T>A
c.900T>A (p.Asn300Lys)
c.1244T>A
c.1320T>A (p.Asn440Lys)
c.1197T>A (p.Asn399Lys)
c.1137T>A (p.Asn379Lys)
 gnomAD v4
6g.24528104T>CCA448787633ALDH5A1c.1281T>C (p.Asn427=)
n.396T>C
c.900T>C (p.Asn300=)
c.1244T>C
c.1320T>C (p.Asn440=)
c.1197T>C (p.Asn399=)
c.1137T>C (p.Asn379=)
6g.24528104T>GCA362978648ALDH5A1c.1281T>G (p.Asn427Lys)
n.396T>G
c.900T>G (p.Asn300Lys)
c.1244T>G
c.1320T>G (p.Asn440Lys)
c.1197T>G (p.Asn399Lys)
c.1137T>G (p.Asn379Lys)
6g.24528105G>ACA362978657ALDH5A1c.1282G>A (p.Val428Ile)
n.397G>A
c.901G>A (p.Val301Ile)
c.1245G>A
c.1321G>A (p.Val441Ile)
c.1198G>A (p.Val400Ile)
c.1138G>A (p.Val380Ile)
 dbSNP
6g.24528105G>CCA362978656ALDH5A1c.1282G>C (p.Val428Leu)
n.397G>C
c.901G>C (p.Val301Leu)
c.1245G>C
c.1321G>C (p.Val441Leu)
c.1198G>C (p.Val400Leu)
c.1138G>C (p.Val380Leu)
6g.24528105G=CA1616534969ALDH5A1c.1282G= (p.Val428=)
n.397G=
c.901G= (p.Val301=)
c.1245G=
c.1321G= (p.Val441=)
c.1198G= (p.Val400=)
c.1138G= (p.Val380=)
6g.24528105G>TCA362978653ALDH5A1c.1282G>T (p.Val428Phe)
n.397G>T
c.901G>T (p.Val301Phe)
c.1245G>T
c.1321G>T (p.Val441Phe)
c.1198G>T (p.Val400Phe)
c.1138G>T (p.Val380Phe)
6g.24528106T>ACA362978658ALDH5A1c.1283T>A (p.Val428Asp)
n.398T>A
c.902T>A (p.Val301Asp)
c.1246T>A
c.1322T>A (p.Val441Asp)
c.1199T>A (p.Val400Asp)
c.1139T>A (p.Val380Asp)
6g.24528106T>CCA362978659ALDH5A1c.1283T>C (p.Val428Ala)
n.398T>C
c.902T>C (p.Val301Ala)
c.1246T>C
c.1322T>C (p.Val441Ala)
c.1199T>C (p.Val400Ala)
c.1139T>C (p.Val380Ala)
6g.24528106T>GCA362978661ALDH5A1c.1283T>G (p.Val428Gly)
n.398T>G
c.902T>G (p.Val301Gly)
c.1246T>G
c.1322T>G (p.Val441Gly)
c.1199T>G (p.Val400Gly)
c.1139T>G (p.Val380Gly)
6g.24528107C>ACA448787637ALDH5A1c.1284C>A (p.Val428=)
n.399C>A
c.903C>A (p.Val301=)
c.1247C>A
c.1323C>A (p.Val441=)
c.1200C>A (p.Val400=)
c.1140C>A (p.Val380=)
6g.24528107C>GCA448787638ALDH5A1c.1284C>G (p.Val428=)
n.399C>G
c.903C>G (p.Val301=)
c.1247C>G
c.1323C>G (p.Val441=)
c.1200C>G (p.Val400=)
c.1140C>G (p.Val380=)
6g.24528107C>TCA448787640ALDH5A1c.1284C>T (p.Val428=)
n.399C>T
c.903C>T (p.Val301=)
c.1247C>T
c.1323C>T (p.Val441=)
c.1200C>T (p.Val400=)
c.1140C>T (p.Val380=)
6g.24528108A=CA1616534970ALDH5A1c.1285A= (p.Thr429=)
n.400A=
c.904A= (p.Thr302=)
c.1248A=
c.1324A= (p.Thr442=)
c.1201A= (p.Thr401=)
c.1141A= (p.Thr381=)
6g.24528108A>CCA362978665ALDH5A1c.1285A>C (p.Thr429Pro)
n.400A>C
c.904A>C (p.Thr302Pro)
c.1248A>C
c.1324A>C (p.Thr442Pro)
c.1201A>C (p.Thr401Pro)
c.1141A>C (p.Thr381Pro)
6g.24528108A>GCA362978667ALDH5A1c.1285A>G (p.Thr429Ala)
n.400A>G
c.904A>G (p.Thr302Ala)
c.1248A>G
c.1324A>G (p.Thr442Ala)
c.1201A>G (p.Thr401Ala)
c.1141A>G (p.Thr381Ala)
6g.24528108A>TCA362978670ALDH5A1c.1285A>T (p.Thr429Ser)
n.400A>T
c.904A>T (p.Thr302Ser)
c.1248A>T
c.1324A>T (p.Thr442Ser)
c.1201A>T (p.Thr401Ser)
c.1141A>T (p.Thr381Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24528109C>ACA362978671ALDH5A1c.1286C>A (p.Thr429Asn)
n.401C>A
c.905C>A (p.Thr302Asn)
c.1249C>A
c.1325C>A (p.Thr442Asn)
c.1202C>A (p.Thr401Asn)
c.1142C>A (p.Thr381Asn)
6g.24528109C=CA1616534971ALDH5A1c.1286C= (p.Thr429=)
n.401C=
c.905C= (p.Thr302=)
c.1249C=
c.1325C= (p.Thr442=)
c.1202C= (p.Thr401=)
c.1142C= (p.Thr381=)
6g.24528109C>GCA362978672ALDH5A1c.1286C>G (p.Thr429Ser)
n.401C>G
c.905C>G (p.Thr302Ser)
c.1249C>G
c.1325C>G (p.Thr442Ser)
c.1202C>G (p.Thr401Ser)
c.1142C>G (p.Thr381Ser)
6g.24528109C>TCA362978673ALDH5A1c.1286C>T (p.Thr429Ile)
n.401C>T
c.905C>T (p.Thr302Ile)
c.1249C>T
c.1325C>T (p.Thr442Ile)
c.1202C>T (p.Thr401Ile)
c.1142C>T (p.Thr381Ile)
 dbSNP gnomAD v4
6g.24528110C>ACA448787646ALDH5A1c.1287C>A (p.Thr429=)
n.402C>A
c.906C>A (p.Thr302=)
c.1250C>A
c.1326C>A (p.Thr442=)
c.1203C>A (p.Thr401=)
c.1143C>A (p.Thr381=)
6g.24528110C=CA1616534972ALDH5A1c.1287C= (p.Thr429=)
n.402C=
c.906C= (p.Thr302=)
c.1250C=
c.1326C= (p.Thr442=)
c.1203C= (p.Thr401=)
c.1143C= (p.Thr381=)
6g.24528110C>GCA448787647ALDH5A1c.1287C>G (p.Thr429=)
n.402C>G
c.906C>G (p.Thr302=)
c.1250C>G
c.1326C>G (p.Thr442=)
c.1203C>G (p.Thr401=)
c.1143C>G (p.Thr381=)
6g.24528110C>TCA448787648ALDH5A1c.1287C>T (p.Thr429=)
n.402C>T
c.906C>T (p.Thr302=)
c.1250C>T
c.1326C>T (p.Thr442=)
c.1203C>T (p.Thr401=)
c.1143C>T (p.Thr381=)
 dbSNP gnomAD v2 gnomAD v4
6g.24528111C>ACA362978677ALDH5A1c.1288C>A (p.Gln430Lys)
n.403C>A
c.907C>A (p.Gln303Lys)
c.1251C>A
c.1327C>A (p.Gln443Lys)
c.1204C>A (p.Gln402Lys)
c.1144C>A (p.Gln382Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.24528111C=CA1616534973ALDH5A1c.1288C= (p.Gln430=)
n.403C=
c.907C= (p.Gln303=)
c.1251C=
c.1327C= (p.Gln443=)
c.1204C= (p.Gln402=)
c.1144C= (p.Gln382=)
6g.24528111C>GCA362978682ALDH5A1c.1288C>G (p.Gln430Glu)
n.403C>G
c.907C>G (p.Gln303Glu)
c.1251C>G
c.1327C>G (p.Gln443Glu)
c.1204C>G (p.Gln402Glu)
c.1144C>G (p.Gln382Glu)
 gnomAD v4
6g.24528111C>TCA362978685ALDH5A1c.1288C>T (p.Gln430Ter)
n.403C>T
c.907C>T (p.Gln303Ter)
c.1251C>T
c.1327C>T (p.Gln443Ter)
c.1204C>T (p.Gln402Ter)
c.1144C>T (p.Gln382Ter)
 gnomAD v4
6g.24528112A=CA1616534974ALDH5A1c.1289A= (p.Gln430=)
n.404A=
c.908A= (p.Gln303=)
c.1252A=
c.1328A= (p.Gln443=)
c.1205A= (p.Gln402=)
c.1145A= (p.Gln382=)
6g.24528112A>CCA362978692ALDH5A1c.1289A>C (p.Gln430Pro)
n.404A>C
c.908A>C (p.Gln303Pro)
c.1252A>C
c.1328A>C (p.Gln443Pro)
c.1205A>C (p.Gln402Pro)
c.1145A>C (p.Gln382Pro)
6g.24528112A>GCA136139418ALDH5A1c.1289A>G (p.Gln430Arg)
n.404A>G
c.908A>G (p.Gln303Arg)
c.1252A>G
c.1328A>G (p.Gln443Arg)
c.1205A>G (p.Gln402Arg)
c.1145A>G (p.Gln382Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.24528112A>TCA362978689ALDH5A1c.1289A>T (p.Gln430Leu)
n.404A>T
c.908A>T (p.Gln303Leu)
c.1252A>T
c.1328A>T (p.Gln443Leu)
c.1205A>T (p.Gln402Leu)
c.1145A>T (p.Gln382Leu)
6g.24528113G>ACA448787655ALDH5A1c.1290G>A (p.Gln430=)
n.405G>A
c.909G>A (p.Gln303=)
c.1253G>A
c.1329G>A (p.Gln443=)
c.1206G>A (p.Gln402=)
c.1146G>A (p.Gln382=)
6g.24528113G>CCA362978694ALDH5A1c.1290G>C (p.Gln430His)
n.405G>C
c.909G>C (p.Gln303His)
c.1253G>C
c.1329G>C (p.Gln443His)
c.1206G>C (p.Gln402His)
c.1146G>C (p.Gln382His)
 dbSNP gnomAD v4
6g.24528113G=CA1616534975ALDH5A1c.1290G= (p.Gln430=)
n.405G=
c.909G= (p.Gln303=)
c.1253G=
c.1329G= (p.Gln443=)
c.1206G= (p.Gln402=)
c.1146G= (p.Gln382=)
6g.24528113G>TCA362978697ALDH5A1c.1290G>T (p.Gln430His)
n.405G>T
c.909G>T (p.Gln303His)
c.1253G>T
c.1329G>T (p.Gln443His)
c.1206G>T (p.Gln402His)
c.1146G>T (p.Gln382His)
6g.24528114G>ACA362978703ALDH5A1c.1291G>A (p.Asp431Asn)
n.406G>A
c.910G>A (p.Asp304Asn)
c.1254G>A
c.1330G>A (p.Asp444Asn)
c.1207G>A (p.Asp403Asn)
c.1147G>A (p.Asp383Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24528114G>CCA362978706ALDH5A1c.1291G>C (p.Asp431His)
n.406G>C
c.910G>C (p.Asp304His)
c.1254G>C
c.1330G>C (p.Asp444His)
c.1207G>C (p.Asp403His)
c.1147G>C (p.Asp383His)
 gnomAD v4
6g.24528114G=CA1616534976ALDH5A1c.1291G= (p.Asp431=)
n.406G=
c.910G= (p.Asp304=)
c.1254G=
c.1330G= (p.Asp444=)
c.1207G= (p.Asp403=)
c.1147G= (p.Asp383=)
6g.24528114G>TCA362978710ALDH5A1c.1291G>T (p.Asp431Tyr)
n.406G>T
c.910G>T (p.Asp304Tyr)
c.1254G>T
c.1330G>T (p.Asp444Tyr)
c.1207G>T (p.Asp403Tyr)
c.1147G>T (p.Asp383Tyr)
6g.24528115A>CCA362978713ALDH5A1c.1292A>C (p.Asp431Ala)
n.407A>C
c.911A>C (p.Asp304Ala)
c.1255A>C
c.1331A>C (p.Asp444Ala)
c.1208A>C (p.Asp403Ala)
c.1148A>C (p.Asp383Ala)
6g.24528115A>GCA362978716ALDH5A1c.1292A>G (p.Asp431Gly)
n.407A>G
c.911A>G (p.Asp304Gly)
c.1255A>G
c.1331A>G (p.Asp444Gly)
c.1208A>G (p.Asp403Gly)
c.1148A>G (p.Asp383Gly)
6g.24528115A>TCA362978719ALDH5A1c.1292A>T (p.Asp431Val)
n.407A>T
c.911A>T (p.Asp304Val)
c.1255A>T
c.1331A>T (p.Asp444Val)
c.1208A>T (p.Asp403Val)
c.1148A>T (p.Asp383Val)
6g.24528116C>ACA362978721ALDH5A1c.1293C>A (p.Asp431Glu)
n.408C>A
c.912C>A (p.Asp304Glu)
c.1256C>A
c.1332C>A (p.Asp444Glu)
c.1209C>A (p.Asp403Glu)
c.1149C>A (p.Asp383Glu)
6g.24528116C>GCA362978726ALDH5A1c.1293C>G (p.Asp431Glu)
n.408C>G
c.912C>G (p.Asp304Glu)
c.1256C>G
c.1332C>G (p.Asp444Glu)
c.1209C>G (p.Asp403Glu)
c.1149C>G (p.Asp383Glu)
6g.24528116C>TCA448787661ALDH5A1c.1293C>T (p.Asp431=)
n.408C>T
c.912C>T (p.Asp304=)
c.1256C>T
c.1332C>T (p.Asp444=)
c.1209C>T (p.Asp403=)
c.1149C>T (p.Asp383=)
6g.24528117A=CA1616534977ALDH5A1c.1294A= (p.Met432=)
n.409A=
c.913A= (p.Met305=)
c.1257A=
c.1333A= (p.Met445=)
c.1210A= (p.Met404=)
c.1150A= (p.Met384=)
6g.24528117A>CCA362978728ALDH5A1c.1294A>C (p.Met432Leu)
n.409A>C
c.913A>C (p.Met305Leu)
c.1257A>C
c.1333A>C (p.Met445Leu)
c.1210A>C (p.Met404Leu)
c.1150A>C (p.Met384Leu)
 ClinVar dbSNP gnomAD v4
6g.24528117A>GCA362978731ALDH5A1c.1294A>G (p.Met432Val)
n.409A>G
c.913A>G (p.Met305Val)
c.1257A>G
c.1333A>G (p.Met445Val)
c.1210A>G (p.Met404Val)
c.1150A>G (p.Met384Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.24528117A>TCA362978733ALDH5A1c.1294A>T (p.Met432Leu)
n.409A>T
c.913A>T (p.Met305Leu)
c.1257A>T
c.1333A>T (p.Met445Leu)
c.1210A>T (p.Met404Leu)
c.1150A>T (p.Met384Leu)
6g.24528118T>ACA362978746ALDH5A1c.1295T>A (p.Met432Lys)
n.410T>A
c.914T>A (p.Met305Lys)
c.1258T>A
c.1334T>A (p.Met445Lys)
c.1211T>A (p.Met404Lys)
c.1151T>A (p.Met384Lys)
6g.24528118T>CCA362978748ALDH5A1c.1295T>C (p.Met432Thr)
n.410T>C
c.914T>C (p.Met305Thr)
c.1258T>C
c.1334T>C (p.Met445Thr)
c.1211T>C (p.Met404Thr)
c.1151T>C (p.Met384Thr)
6g.24528118T>GCA362978743ALDH5A1c.1295T>G (p.Met432Arg)
n.410T>G
c.914T>G (p.Met305Arg)
c.1258T>G
c.1334T>G (p.Met445Arg)
c.1211T>G (p.Met404Arg)
c.1151T>G (p.Met384Arg)
6g.24528118T=CA1616534978ALDH5A1c.1295T= (p.Met432=)
n.410T=
c.914T= (p.Met305=)
c.1258T=
c.1334T= (p.Met445=)
c.1211T= (p.Met404=)
c.1151T= (p.Met384=)
6g.24528119G>ACA3656897ALDH5A1c.1296G>A (p.Met432Ile)
n.411G>A
c.915G>A (p.Met305Ile)
c.1259G>A
c.1335G>A (p.Met445Ile)
c.1212G>A (p.Met404Ile)
c.1152G>A (p.Met384Ile)
 dbSNP ExAC
6g.24528119G>CCA362978750ALDH5A1c.1296G>C (p.Met432Ile)
n.411G>C
c.915G>C (p.Met305Ile)
c.1259G>C
c.1335G>C (p.Met445Ile)
c.1212G>C (p.Met404Ile)
c.1152G>C (p.Met384Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.24528119G=CA1616534979ALDH5A1c.1296G= (p.Met432=)
n.411G=
c.915G= (p.Met305=)
c.1259G=
c.1335G= (p.Met445=)
c.1212G= (p.Met404=)
c.1152G= (p.Met384=)
6g.24528119G>TCA362978751ALDH5A1c.1296G>T (p.Met432Ile)
n.411G>T
c.915G>T (p.Met305Ile)
c.1259G>T
c.1335G>T (p.Met445Ile)
c.1212G>T (p.Met404Ile)
c.1152G>T (p.Met384Ile)
6g.24528119dupCA1616534980ALDH5A1c.1296dup (p.Leu433AlafsTer5)
n.411dup
c.915dup (p.Leu306AlafsTer5)
c.1259dup
c.1335dup (p.Leu446AlafsTer5)
c.1212dup (p.Leu405AlafsTer5)
c.1152dup (p.Leu385AlafsTer5)
 dbSNP
6g.24528120C>ACA362978753ALDH5A1c.1297C>A (p.Leu433Met)
n.412C>A
c.916C>A (p.Leu306Met)
c.1260C>A
c.1336C>A (p.Leu446Met)
c.1213C>A (p.Leu405Met)
c.1153C>A (p.Leu385Met)
6g.24528120C=CA1616534981ALDH5A1c.1297C= (p.Leu433=)
n.412C=
c.916C= (p.Leu306=)
c.1260C=
c.1336C= (p.Leu446=)
c.1213C= (p.Leu405=)
c.1153C= (p.Leu385=)
6g.24528120C>GCA362978756ALDH5A1c.1297C>G (p.Leu433Val)
n.412C>G
c.916C>G (p.Leu306Val)
c.1260C>G
c.1336C>G (p.Leu446Val)
c.1213C>G (p.Leu405Val)
c.1153C>G (p.Leu385Val)
6g.24528120C>TCA136139425ALDH5A1c.1297C>T (p.Leu433=)
n.412C>T
c.916C>T (p.Leu306=)
c.1260C>T
c.1336C>T (p.Leu446=)
c.1213C>T (p.Leu405=)
c.1153C>T (p.Leu385=)
 dbSNP
6g.24528121T>ACA362978759ALDH5A1c.1298T>A (p.Leu433Gln)
n.413T>A
c.917T>A (p.Leu306Gln)
c.1261T>A
c.1337T>A (p.Leu446Gln)
c.1214T>A (p.Leu405Gln)
c.1154T>A (p.Leu385Gln)
6g.24528121T>CCA362978760ALDH5A1c.1298T>C (p.Leu433Pro)
n.413T>C
c.917T>C (p.Leu306Pro)
c.1261T>C
c.1337T>C (p.Leu446Pro)
c.1214T>C (p.Leu405Pro)
c.1154T>C (p.Leu385Pro)
6g.24528121T>GCA362978761ALDH5A1c.1298T>G (p.Leu433Arg)
n.413T>G
c.917T>G (p.Leu306Arg)
c.1261T>G
c.1337T>G (p.Leu446Arg)
c.1214T>G (p.Leu405Arg)
c.1154T>G (p.Leu385Arg)
 ClinVar dbSNP
6g.24528121T=CA1616534982ALDH5A1c.1298T= (p.Leu433=)
n.413T=
c.917T= (p.Leu306=)
c.1261T=
c.1337T= (p.Leu446=)
c.1214T= (p.Leu405=)
c.1154T= (p.Leu385=)
6g.24528122G>ACA448787669ALDH5A1c.1299G>A (p.Leu433=)
n.414G>A
c.918G>A (p.Leu306=)
c.1262G>A
c.1338G>A (p.Leu446=)
c.1215G>A (p.Leu405=)
c.1155G>A (p.Leu385=)
 gnomAD v4
6g.24528122G>CCA3656898ALDH5A1c.1299G>C (p.Leu433=)
n.414G>C
c.918G>C (p.Leu306=)
c.1262G>C
c.1338G>C (p.Leu446=)
c.1215G>C (p.Leu405=)
c.1155G>C (p.Leu385=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.24528122G=CA1616534983ALDH5A1c.1299G= (p.Leu433=)
n.414G=
c.918G= (p.Leu306=)
c.1262G=
c.1338G= (p.Leu446=)
c.1215G= (p.Leu405=)
c.1155G= (p.Leu385=)
6g.24528122G>TCA448787672ALDH5A1c.1299G>T (p.Leu433=)
n.414G>T
c.918G>T (p.Leu306=)
c.1262G>T
c.1338G>T (p.Leu446=)
c.1215G>T (p.Leu405=)
c.1155G>T (p.Leu385=)
6g.24528123T>ACA362978765ALDH5A1c.1300T>A (p.Cys434Ser)
n.415T>A
c.919T>A (p.Cys307Ser)
c.1263T>A
c.1339T>A (p.Cys447Ser)
c.1216T>A (p.Cys406Ser)
c.1156T>A (p.Cys386Ser)
6g.24528123T>CCA362978766ALDH5A1c.1300T>C (p.Cys434Arg)
n.415T>C
c.919T>C (p.Cys307Arg)
c.1263T>C
c.1339T>C (p.Cys447Arg)
c.1216T>C (p.Cys406Arg)
c.1156T>C (p.Cys386Arg)
6g.24528123T>GCA362978773ALDH5A1c.1300T>G (p.Cys434Gly)
n.415T>G
c.919T>G (p.Cys307Gly)
c.1263T>G
c.1339T>G (p.Cys447Gly)
c.1216T>G (p.Cys406Gly)
c.1156T>G (p.Cys386Gly)
6g.24528124G>ACA362978776ALDH5A1c.1301G>A (p.Cys434Tyr)
n.416G>A
c.920G>A (p.Cys307Tyr)
c.1264G>A
c.1340G>A (p.Cys447Tyr)
c.1217G>A (p.Cys406Tyr)
c.1157G>A (p.Cys386Tyr)
6g.24528124G>CCA362978778ALDH5A1c.1301G>C (p.Cys434Ser)
n.416G>C
c.920G>C (p.Cys307Ser)
c.1264G>C
c.1340G>C (p.Cys447Ser)
c.1217G>C (p.Cys406Ser)
c.1157G>C (p.Cys386Ser)
6g.24528124G>TCA362978781ALDH5A1c.1301G>T (p.Cys434Phe)
n.416G>T
c.920G>T (p.Cys307Phe)
c.1264G>T
c.1340G>T (p.Cys447Phe)
c.1217G>T (p.Cys406Phe)
c.1157G>T (p.Cys386Phe)
6g.24528124_24528125delCA2515377944ALDH5A1c.1301_1302del (p.Cys434TyrfsTer3)
n.416_417del
c.920_921del (p.Cys307TyrfsTer3)
c.1264_1265del
c.1340_1341del (p.Cys447TyrfsTer3)
c.1217_1218del (p.Cys406TyrfsTer3)
c.1157_1158del (p.Cys386TyrfsTer3)
6g.24528125C>ACA362978785ALDH5A1c.1302C>A (p.Cys434Ter)
n.417C>A
c.921C>A (p.Cys307Ter)
c.1265C>A
c.1341C>A (p.Cys447Ter)
c.1218C>A (p.Cys406Ter)
c.1158C>A (p.Cys386Ter)
6g.24528125C=CA1616534984ALDH5A1c.1302C= (p.Cys434=)
n.417C=
c.921C= (p.Cys307=)
c.1265C=
c.1341C= (p.Cys447=)
c.1218C= (p.Cys406=)
c.1158C= (p.Cys386=)
6g.24528125C>GCA362978788ALDH5A1c.1302C>G (p.Cys434Trp)
n.417C>G
c.921C>G (p.Cys307Trp)
c.1265C>G
c.1341C>G (p.Cys447Trp)
c.1218C>G (p.Cys406Trp)
c.1158C>G (p.Cys386Trp)
6g.24528125C>TCA448787677ALDH5A1c.1302C>T (p.Cys434=)
n.417C>T
c.921C>T (p.Cys307=)
c.1265C>T
c.1341C>T (p.Cys447=)
c.1218C>T (p.Cys406=)
c.1158C>T (p.Cys386=)
 dbSNP gnomAD v2 gnomAD v4
6g.24528126A=CA1616534985ALDH5A1c.1303A= (p.Thr435=)
n.418A=
c.922A= (p.Thr308=)
c.1266A=
c.1342A= (p.Thr448=)
c.1219A= (p.Thr407=)
c.1159A= (p.Thr387=)
6g.24528126A>CCA362978793ALDH5A1c.1303A>C (p.Thr435Pro)
n.418A>C
c.922A>C (p.Thr308Pro)
c.1266A>C
c.1342A>C (p.Thr448Pro)
c.1219A>C (p.Thr407Pro)
c.1159A>C (p.Thr387Pro)
 gnomAD v4
6g.24528126A>GCA362978794ALDH5A1c.1303A>G (p.Thr435Ala)
n.418A>G
c.922A>G (p.Thr308Ala)
c.1266A>G
c.1342A>G (p.Thr448Ala)
c.1219A>G (p.Thr407Ala)
c.1159A>G (p.Thr387Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.24528126A>TCA362978797ALDH5A1c.1303A>T (p.Thr435Ser)
n.418A>T
c.922A>T (p.Thr308Ser)
c.1266A>T
c.1342A>T (p.Thr448Ser)
c.1219A>T (p.Thr407Ser)
c.1159A>T (p.Thr387Ser)
6g.24528127C>ACA362978800ALDH5A1c.1304C>A (p.Thr435Asn)
n.419C>A
c.923C>A (p.Thr308Asn)
c.1267C>A
c.1343C>A (p.Thr448Asn)
c.1220C>A (p.Thr407Asn)
c.1160C>A (p.Thr387Asn)
6g.24528127C>GCA362978801ALDH5A1c.1304C>G (p.Thr435Ser)
n.419C>G
c.923C>G (p.Thr308Ser)
c.1267C>G
c.1343C>G (p.Thr448Ser)
c.1220C>G (p.Thr407Ser)
c.1160C>G (p.Thr387Ser)
6g.24528127C>TCA362978802ALDH5A1c.1304C>T (p.Thr435Ile)
n.419C>T
c.923C>T (p.Thr308Ile)
c.1267C>T
c.1343C>T (p.Thr448Ile)
c.1220C>T (p.Thr407Ile)
c.1160C>T (p.Thr387Ile)
6g.24528128T>ACA448787682ALDH5A1c.1305T>A (p.Thr435=)
n.420T>A
c.924T>A (p.Thr308=)
c.1268T>A
c.1344T>A (p.Thr448=)
c.1221T>A (p.Thr407=)
c.1161T>A (p.Thr387=)
6g.24528128T>CCA136139433ALDH5A1c.1305T>C (p.Thr435=)
n.420T>C
c.924T>C (p.Thr308=)
c.1268T>C
c.1344T>C (p.Thr448=)
c.1221T>C (p.Thr407=)
c.1161T>C (p.Thr387=)
 dbSNP gnomAD v4
6g.24528128T>GCA448787683ALDH5A1c.1305T>G (p.Thr435=)
n.420T>G
c.924T>G (p.Thr308=)
c.1268T>G
c.1344T>G (p.Thr448=)
c.1221T>G (p.Thr407=)
c.1161T>G (p.Thr387=)
6g.24528128T=CA1616534986ALDH5A1c.1305T= (p.Thr435=)
n.420T=
c.924T= (p.Thr308=)
c.1268T=
c.1344T= (p.Thr448=)
c.1221T= (p.Thr407=)
c.1161T= (p.Thr387=)
6g.24528129C>ACA362978804ALDH5A1c.1306C>A (p.His436Asn)
n.421C>A
c.925C>A (p.His309Asn)
c.1269C>A
c.1345C>A (p.His449Asn)
c.1222C>A (p.His408Asn)
c.1162C>A (p.His388Asn)
6g.24528129C>GCA362978806ALDH5A1c.1306C>G (p.His436Asp)
n.421C>G
c.925C>G (p.His309Asp)
c.1269C>G
c.1345C>G (p.His449Asp)
c.1222C>G (p.His408Asp)
c.1162C>G (p.His388Asp)
 gnomAD v4
6g.24528129C>TCA362978808ALDH5A1c.1306C>T (p.His436Tyr)
n.421C>T
c.925C>T (p.His309Tyr)
c.1269C>T
c.1345C>T (p.His449Tyr)
c.1222C>T (p.His408Tyr)
c.1162C>T (p.His388Tyr)
 COSMIC
6g.24528130A>CCA362978810ALDH5A1c.1307A>C (p.His436Pro)
n.422A>C
c.926A>C (p.His309Pro)
c.1270A>C
c.1346A>C (p.His449Pro)
c.1223A>C (p.His408Pro)
c.1163A>C (p.His388Pro)
 gnomAD v4 COSMIC
6g.24528130A>GCA362978811ALDH5A1c.1307A>G (p.His436Arg)
n.422A>G
c.926A>G (p.His309Arg)
c.1270A>G
c.1346A>G (p.His449Arg)
c.1223A>G (p.His408Arg)
c.1163A>G (p.His388Arg)
6g.24528130A>TCA362978819ALDH5A1c.1307A>T (p.His436Leu)
n.422A>T
c.926A>T (p.His309Leu)
c.1270A>T
c.1346A>T (p.His449Leu)
c.1223A>T (p.His408Leu)
c.1163A>T (p.His388Leu)
6g.24528131T>ACA362978829ALDH5A1c.1308T>A (p.His436Gln)
n.423T>A
c.927T>A (p.His309Gln)
c.1271T>A
c.1347T>A (p.His449Gln)
c.1224T>A (p.His408Gln)
c.1164T>A (p.His388Gln)
6g.24528131T>CCA136139434ALDH5A1c.1308T>C (p.His436=)
n.423T>C
c.927T>C (p.His309=)
c.1271T>C
c.1347T>C (p.His449=)
c.1224T>C (p.His408=)
c.1164T>C (p.His388=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24528131T>GCA3656899ALDH5A1c.1308T>G (p.His436Gln)
n.423T>G
c.927T>G (p.His309Gln)
c.1271T>G
c.1347T>G (p.His449Gln)
c.1224T>G (p.His408Gln)
c.1164T>G (p.His388Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24528131T=CA1616534987ALDH5A1c.1308T= (p.His436=)
n.423T=
c.927T= (p.His309=)
c.1271T=
c.1347T= (p.His449=)
c.1224T= (p.His408=)
c.1164T= (p.His388=)
6g.24528132G>ACA3656900ALDH5A1c.1309G>A (p.Glu437Lys)
n.424G>A
c.928G>A (p.Glu310Lys)
c.1272G>A
c.1348G>A (p.Glu450Lys)
c.1225G>A (p.Glu409Lys)
c.1165G>A (p.Glu389Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24528132G>CCA362978834ALDH5A1c.1309G>C (p.Glu437Gln)
n.424G>C
c.928G>C (p.Glu310Gln)
c.1272G>C
c.1348G>C (p.Glu450Gln)
c.1225G>C (p.Glu409Gln)
c.1165G>C (p.Glu389Gln)
6g.24528132G=CA1616534988ALDH5A1c.1309G= (p.Glu437=)
n.424G=
c.928G= (p.Glu310=)
c.1272G=
c.1348G= (p.Glu450=)
c.1225G= (p.Glu409=)
c.1165G= (p.Glu389=)
6g.24528132G>TCA362978835ALDH5A1c.1309G>T (p.Glu437Ter)
n.424G>T
c.928G>T (p.Glu310Ter)
c.1272G>T
c.1348G>T (p.Glu450Ter)
c.1225G>T (p.Glu409Ter)
c.1165G>T (p.Glu389Ter)
6g.24528134_24528136delCA2677529500ALDH5A1c.1311_1313del (p.Glu438del)
n.426_428del
c.930_932del (p.Glu311del)
c.1274_1276del
c.1350_1352del (p.Glu451del)
c.1227_1229del (p.Glu410del)
c.1167_1169del (p.Glu390del)
 gnomAD v4
6g.24528133A=CA1616534989ALDH5A1c.1310A= (p.Glu437=)
n.425A=
c.929A= (p.Glu310=)
c.1273A=
c.1349A= (p.Glu450=)
c.1226A= (p.Glu409=)
c.1166A= (p.Glu389=)
6g.24528133A>CCA362978838ALDH5A1c.1310A>C (p.Glu437Ala)
n.425A>C
c.929A>C (p.Glu310Ala)
c.1273A>C
c.1349A>C (p.Glu450Ala)
c.1226A>C (p.Glu409Ala)
c.1166A>C (p.Glu389Ala)
6g.24528133A>GCA3656901ALDH5A1c.1310A>G (p.Glu437Gly)
n.425A>G
c.929A>G (p.Glu310Gly)
c.1273A>G
c.1349A>G (p.Glu450Gly)
c.1226A>G (p.Glu409Gly)
c.1166A>G (p.Glu389Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24528133A>TCA362978847ALDH5A1c.1310A>T (p.Glu437Val)
n.425A>T
c.929A>T (p.Glu310Val)
c.1273A>T
c.1349A>T (p.Glu450Val)
c.1226A>T (p.Glu409Val)
c.1166A>T (p.Glu389Val)
6g.24528134A>CCA362978852ALDH5A1c.1311A>C (p.Glu437Asp)
n.426A>C
c.930A>C (p.Glu310Asp)
c.1274A>C
c.1350A>C (p.Glu450Asp)
c.1227A>C (p.Glu409Asp)
c.1167A>C (p.Glu389Asp)
6g.24528134A>GCA448787692ALDH5A1c.1311A>G (p.Glu437=)
n.426A>G
c.930A>G (p.Glu310=)
c.1274A>G
c.1350A>G (p.Glu450=)
c.1227A>G (p.Glu409=)
c.1167A>G (p.Glu389=)
6g.24528134A>TCA362978856ALDH5A1c.1311A>T (p.Glu437Asp)
n.426A>T
c.930A>T (p.Glu310Asp)
c.1274A>T
c.1350A>T (p.Glu450Asp)
c.1227A>T (p.Glu409Asp)
c.1167A>T (p.Glu389Asp)
6g.24528135G>ACA362978867ALDH5A1c.1312G>A (p.Glu438Lys)
n.427G>A
c.931G>A (p.Glu311Lys)
c.1275G>A
c.1351G>A (p.Glu451Lys)
c.1228G>A (p.Glu410Lys)
c.1168G>A (p.Glu390Lys)
6g.24528135G>CCA362978870ALDH5A1c.1312G>C (p.Glu438Gln)
n.427G>C
c.931G>C (p.Glu311Gln)
c.1275G>C
c.1351G>C (p.Glu451Gln)
c.1228G>C (p.Glu410Gln)
c.1168G>C (p.Glu390Gln)
6g.24528135G>TCA362978875ALDH5A1c.1312G>T (p.Glu438Ter)
n.427G>T
c.931G>T (p.Glu311Ter)
c.1275G>T
c.1351G>T (p.Glu451Ter)
c.1228G>T (p.Glu410Ter)
c.1168G>T (p.Glu390Ter)
6g.24528136A>CCA362978880ALDH5A1c.1313A>C (p.Glu438Ala)
n.428A>C
c.932A>C (p.Glu311Ala)
c.1276A>C
c.1352A>C (p.Glu451Ala)
c.1229A>C (p.Glu410Ala)
c.1169A>C (p.Glu390Ala)
6g.24528136A>GCA362978883ALDH5A1c.1313A>G (p.Glu438Gly)
n.428A>G
c.932A>G (p.Glu311Gly)
c.1276A>G
c.1352A>G (p.Glu451Gly)
c.1229A>G (p.Glu410Gly)
c.1169A>G (p.Glu390Gly)
6g.24528136A>TCA362978892ALDH5A1c.1313A>T (p.Glu438Val)
n.428A>T
c.932A>T (p.Glu311Val)
c.1276A>T
c.1352A>T (p.Glu451Val)
c.1229A>T (p.Glu410Val)
c.1169A>T (p.Glu390Val)
6g.24528137G>ACA448787698ALDH5A1c.1314G>A (p.Glu438=)
n.429G>A
c.933G>A (p.Glu311=)
c.1277G>A
c.1353G>A (p.Glu451=)
c.1230G>A (p.Glu410=)
c.1170G>A (p.Glu390=)
 ClinVar dbSNP gnomAD v2
6g.24528137G>CCA362978895ALDH5A1c.1314G>C (p.Glu438Asp)
n.429G>C
c.933G>C (p.Glu311Asp)
c.1277G>C
c.1353G>C (p.Glu451Asp)
c.1230G>C (p.Glu410Asp)
c.1170G>C (p.Glu390Asp)
 dbSNP
6g.24528137G=CA1616534990ALDH5A1c.1314G= (p.Glu438=)
n.429G=
c.933G= (p.Glu311=)
c.1277G=
c.1353G= (p.Glu451=)
c.1230G= (p.Glu410=)
c.1170G= (p.Glu390=)
6g.24528137G>TCA362978898ALDH5A1c.1314G>T (p.Glu438Asp)
n.429G>T
c.933G>T (p.Glu311Asp)
c.1277G>T
c.1353G>T (p.Glu451Asp)
c.1230G>T (p.Glu410Asp)
c.1170G>T (p.Glu390Asp)
6g.24528138A=CA1616534991ALDH5A1c.1315A= (p.Thr439=)
n.430A=
c.934A= (p.Thr312=)
c.1278A=
c.1354A= (p.Thr452=)
c.1231A= (p.Thr411=)
c.1171A= (p.Thr391=)
6g.24528138A>CCA362978902ALDH5A1c.1315A>C (p.Thr439Pro)
n.430A>C
c.934A>C (p.Thr312Pro)
c.1278A>C
c.1354A>C (p.Thr452Pro)
c.1231A>C (p.Thr411Pro)
c.1171A>C (p.Thr391Pro)
6g.24528138A>GCA362978905ALDH5A1c.1315A>G (p.Thr439Ala)
n.430A>G
c.934A>G (p.Thr312Ala)
c.1278A>G
c.1354A>G (p.Thr452Ala)
c.1231A>G (p.Thr411Ala)
c.1171A>G (p.Thr391Ala)
6g.24528138A>TCA362978907ALDH5A1c.1315A>T (p.Thr439Ser)
n.430A>T
c.934A>T (p.Thr312Ser)
c.1278A>T
c.1354A>T (p.Thr452Ser)
c.1231A>T (p.Thr411Ser)
c.1171A>T (p.Thr391Ser)
 dbSNP
6g.24528139C>ACA362978909ALDH5A1c.1316C>A (p.Thr439Asn)
n.431C>A
c.935C>A (p.Thr312Asn)
c.1279C>A
c.1355C>A (p.Thr452Asn)
c.1232C>A (p.Thr411Asn)
c.1172C>A (p.Thr391Asn)
 dbSNP
6g.24528139C=CA1616534992ALDH5A1c.1316C= (p.Thr439=)
n.431C=
c.935C= (p.Thr312=)
c.1279C=
c.1355C= (p.Thr452=)
c.1232C= (p.Thr411=)
c.1172C= (p.Thr391=)
6g.24528139C>GCA362978913ALDH5A1c.1316C>G (p.Thr439Ser)
n.431C>G
c.935C>G (p.Thr312Ser)
c.1279C>G
c.1355C>G (p.Thr452Ser)
c.1232C>G (p.Thr411Ser)
c.1172C>G (p.Thr391Ser)
6g.24528139C>TCA3656902ALDH5A1c.1316C>T (p.Thr439Ile)
n.431C>T
c.935C>T (p.Thr312Ile)
c.1279C>T
c.1355C>T (p.Thr452Ile)
c.1232C>T (p.Thr411Ile)
c.1172C>T (p.Thr391Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24528140T>ACA448787705ALDH5A1c.1317T>A (p.Thr439=)
n.432T>A
c.936T>A (p.Thr312=)
c.1280T>A
c.1356T>A (p.Thr452=)
c.1233T>A (p.Thr411=)
c.1173T>A (p.Thr391=)
 gnomAD v4
6g.24528140T>CCA448787704ALDH5A1c.1317T>C (p.Thr439=)
n.432T>C
c.936T>C (p.Thr312=)
c.1280T>C
c.1356T>C (p.Thr452=)
c.1233T>C (p.Thr411=)
c.1173T>C (p.Thr391=)
6g.24528140T>GCA448787706ALDH5A1c.1317T>G (p.Thr439=)
n.432T>G
c.936T>G (p.Thr312=)
c.1280T>G
c.1356T>G (p.Thr452=)
c.1233T>G (p.Thr411=)
c.1173T>G (p.Thr391=)
6g.24528141T>ACA362978925ALDH5A1c.1318T>A (p.Phe440Ile)
n.433T>A
c.937T>A (p.Phe313Ile)
c.1281T>A
c.1357T>A (p.Phe453Ile)
c.1234T>A (p.Phe412Ile)
c.1174T>A (p.Phe392Ile)
6g.24528141T>CCA362978926ALDH5A1c.1318T>C (p.Phe440Leu)
n.433T>C
c.937T>C (p.Phe313Leu)
c.1281T>C
c.1357T>C (p.Phe453Leu)
c.1234T>C (p.Phe412Leu)
c.1174T>C (p.Phe392Leu)
6g.24528141T>GCA362978927ALDH5A1c.1318T>G (p.Phe440Val)
n.433T>G
c.937T>G (p.Phe313Val)
c.1281T>G
c.1357T>G (p.Phe453Val)
c.1234T>G (p.Phe412Val)
c.1174T>G (p.Phe392Val)
 COSMIC
6g.24528142T>ACA362978930ALDH5A1c.1319T>A (p.Phe440Tyr)
n.434T>A
c.938T>A (p.Phe313Tyr)
c.1282T>A
c.1358T>A (p.Phe453Tyr)
c.1235T>A (p.Phe412Tyr)
c.1175T>A (p.Phe392Tyr)
 gnomAD v4
6g.24528142T>CCA362978936ALDH5A1c.1319T>C (p.Phe440Ser)
n.434T>C
c.938T>C (p.Phe313Ser)
c.1282T>C
c.1358T>C (p.Phe453Ser)
c.1235T>C (p.Phe412Ser)
c.1175T>C (p.Phe392Ser)
 ClinVar dbSNP gnomAD v4
6g.24528142T>GCA362978947ALDH5A1c.1319T>G (p.Phe440Cys)
n.434T>G
c.938T>G (p.Phe313Cys)
c.1282T>G
c.1358T>G (p.Phe453Cys)
c.1235T>G (p.Phe412Cys)
c.1175T>G (p.Phe392Cys)
6g.24528142T=CA1616534993ALDH5A1c.1319T= (p.Phe440=)
n.434T=
c.938T= (p.Phe313=)
c.1282T=
c.1358T= (p.Phe453=)
c.1235T= (p.Phe412=)
c.1175T= (p.Phe392=)
6g.24528143delCA2552450596ALDH5A1c.1320del (p.Phe440LeufsTer17)
n.435del
c.939del (p.Phe313LeufsTer17)
c.1283del
c.1359del (p.Phe453LeufsTer17)
c.1236del (p.Phe412LeufsTer17)
c.1176del (p.Phe392LeufsTer17)
6g.24528143C>ACA362978952ALDH5A1c.1320C>A (p.Phe440Leu)
n.435C>A
c.939C>A (p.Phe313Leu)
c.1283C>A
c.1359C>A (p.Phe453Leu)
c.1236C>A (p.Phe412Leu)
c.1176C>A (p.Phe392Leu)
 gnomAD v4
6g.24528143C=CA1616534994ALDH5A1c.1320C= (p.Phe440=)
n.435C=
c.939C= (p.Phe313=)
c.1283C=
c.1359C= (p.Phe453=)
c.1236C= (p.Phe412=)
c.1176C= (p.Phe392=)
6g.24528143C>GCA3656904ALDH5A1c.1320C>G (p.Phe440Leu)
n.435C>G
c.939C>G (p.Phe313Leu)
c.1283C>G
c.1359C>G (p.Phe453Leu)
c.1236C>G (p.Phe412Leu)
c.1176C>G (p.Phe392Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24528143C>TCA3656903ALDH5A1c.1320C>T (p.Phe440=)
n.435C>T
c.939C>T (p.Phe313=)
c.1283C>T
c.1359C>T (p.Phe453=)
c.1236C>T (p.Phe412=)
c.1176C>T (p.Phe392=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24528144G>ACA136139450ALDH5A1c.1321G>A (p.Gly441Arg)
n.436G>A
c.940G>A (p.Gly314Arg)
c.1284G>A
c.1360G>A (p.Gly454Arg)
c.1237G>A (p.Gly413Arg)
c.1177G>A (p.Gly393Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.24528144G>CCA362978955ALDH5A1c.1321G>C (p.Gly441Arg)
n.436G>C
c.940G>C (p.Gly314Arg)
c.1284G>C
c.1360G>C (p.Gly454Arg)
c.1237G>C (p.Gly413Arg)
c.1177G>C (p.Gly393Arg)
6g.24528144G=CA1616534995ALDH5A1c.1321G= (p.Gly441=)
n.436G=
c.940G= (p.Gly314=)
c.1284G=
c.1360G= (p.Gly454=)
c.1237G= (p.Gly413=)
c.1177G= (p.Gly393=)
6g.24528144G>TCA362978957ALDH5A1c.1321G>T (p.Gly441Trp)
n.436G>T
c.940G>T (p.Gly314Trp)
c.1284G>T
c.1360G>T (p.Gly454Trp)
c.1237G>T (p.Gly413Trp)
c.1177G>T (p.Gly393Trp)
 gnomAD v4
6g.24528146dupCA913189874ALDH5A1c.1323dup (p.Pro442AlafsTer19)
n.438dup
c.942dup (p.Pro315AlafsTer19)
c.1286dup
c.1362dup (p.Pro455AlafsTer19)
c.1239dup (p.Pro414AlafsTer19)
c.1179dup (p.Pro394AlafsTer19)
 ClinVar dbSNP gnomAD v4
6g.24528145G>ACA362978960ALDH5A1c.1322G>A (p.Gly441Glu)
n.437G>A
c.941G>A (p.Gly314Glu)
c.1285G>A
c.1361G>A (p.Gly454Glu)
c.1238G>A (p.Gly413Glu)
c.1178G>A (p.Gly393Glu)
6g.24528145G>CCA362978961ALDH5A1c.1322G>C (p.Gly441Ala)
n.437G>C
c.941G>C (p.Gly314Ala)
c.1285G>C
c.1361G>C (p.Gly454Ala)
c.1238G>C (p.Gly413Ala)
c.1178G>C (p.Gly393Ala)
6g.24528145G>TCA362978962ALDH5A1c.1322G>T (p.Gly441Val)
n.437G>T
c.941G>T (p.Gly314Val)
c.1285G>T
c.1361G>T (p.Gly454Val)
c.1238G>T (p.Gly413Val)
c.1178G>T (p.Gly393Val)
 COSMIC
6g.24528146G>ACA448787714ALDH5A1c.1323G>A (p.Gly441=)
n.438G>A
c.942G>A (p.Gly314=)
c.1286G>A
c.1362G>A (p.Gly454=)
c.1239G>A (p.Gly413=)
c.1179G>A (p.Gly393=)
 dbSNP gnomAD v2
6g.24528146G>CCA448787715ALDH5A1c.1323G>C (p.Gly441=)
n.438G>C
c.942G>C (p.Gly314=)
c.1286G>C
c.1362G>C (p.Gly454=)
c.1239G>C (p.Gly413=)
c.1179G>C (p.Gly393=)
6g.24528146G=CA1616534996ALDH5A1c.1323G= (p.Gly441=)
n.438G=
c.942G= (p.Gly314=)
c.1286G=
c.1362G= (p.Gly454=)
c.1239G= (p.Gly413=)
c.1179G= (p.Gly393=)
6g.24528146G>TCA448787717ALDH5A1c.1323G>T (p.Gly441=)
n.438G>T
c.942G>T (p.Gly314=)
c.1286G>T
c.1362G>T (p.Gly454=)
c.1239G>T (p.Gly413=)
c.1179G>T (p.Gly393=)
6g.24528147C>ACA362978968ALDH5A1c.1324C>A (p.Pro442Thr)
n.439C>A
c.943C>A (p.Pro315Thr)
c.1287C>A
c.1363C>A (p.Pro455Thr)
c.1240C>A (p.Pro414Thr)
c.1180C>A (p.Pro394Thr)
6g.24528147C=CA1616534997ALDH5A1c.1324C= (p.Pro442=)
n.439C=
c.943C= (p.Pro315=)
c.1287C=
c.1363C= (p.Pro455=)
c.1240C= (p.Pro414=)
c.1180C= (p.Pro394=)
6g.24528147C>GCA362978971ALDH5A1c.1324C>G (p.Pro442Ala)
n.439C>G
c.943C>G (p.Pro315Ala)
c.1287C>G
c.1363C>G (p.Pro455Ala)
c.1240C>G (p.Pro414Ala)
c.1180C>G (p.Pro394Ala)
6g.24528147C>TCA136139451ALDH5A1c.1324C>T (p.Pro442Ser)
n.439C>T
c.943C>T (p.Pro315Ser)
c.1287C>T
c.1363C>T (p.Pro455Ser)
c.1240C>T (p.Pro414Ser)
c.1180C>T (p.Pro394Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.24528148C>ACA362978977ALDH5A1c.1325C>A (p.Pro442His)
n.440C>A
c.944C>A (p.Pro315His)
c.1288C>A
c.1364C>A (p.Pro455His)
c.1241C>A (p.Pro414His)
c.1181C>A (p.Pro394His)
6g.24528148C>GCA362978987ALDH5A1c.1325C>G (p.Pro442Arg)
n.440C>G
c.944C>G (p.Pro315Arg)
c.1288C>G
c.1364C>G (p.Pro455Arg)
c.1241C>G (p.Pro414Arg)
c.1181C>G (p.Pro394Arg)
 ClinVar dbSNP
6g.24528148C>TCA362978993ALDH5A1c.1325C>T (p.Pro442Leu)
n.440C>T
c.944C>T (p.Pro315Leu)
c.1288C>T
c.1364C>T (p.Pro455Leu)
c.1241C>T (p.Pro414Leu)
c.1181C>T (p.Pro394Leu)
6g.24528149T>ACA448787722ALDH5A1c.1326T>A (p.Pro442=)
n.441T>A
c.945T>A (p.Pro315=)
c.1289T>A
c.1365T>A (p.Pro455=)
c.1242T>A (p.Pro414=)
c.1182T>A (p.Pro394=)
6g.24528149T>CCA448787723ALDH5A1c.1326T>C (p.Pro442=)
n.441T>C
c.945T>C (p.Pro315=)
c.1289T>C
c.1365T>C (p.Pro455=)
c.1242T>C (p.Pro414=)
c.1182T>C (p.Pro394=)
6g.24528149T>GCA448787725ALDH5A1c.1326T>G (p.Pro442=)
n.441T>G
c.945T>G (p.Pro315=)
c.1289T>G
c.1365T>G (p.Pro455=)
c.1242T>G (p.Pro414=)
c.1182T>G (p.Pro394=)
6g.24528150C>ACA362979000ALDH5A1c.1327C>A (p.Leu443Met)
n.442C>A
c.946C>A (p.Leu316Met)
c.1290C>A
c.1366C>A (p.Leu456Met)
c.1243C>A (p.Leu415Met)
c.1183C>A (p.Leu395Met)
 gnomAD v4
6g.24528150C>GCA362979002ALDH5A1c.1327C>G (p.Leu443Val)
n.442C>G
c.946C>G (p.Leu316Val)
c.1290C>G
c.1366C>G (p.Leu456Val)
c.1243C>G (p.Leu415Val)
c.1183C>G (p.Leu395Val)
6g.24528150C>TCA448787727ALDH5A1c.1327C>T (p.Leu443=)
n.442C>T
c.946C>T (p.Leu316=)
c.1290C>T
c.1366C>T (p.Leu456=)
c.1243C>T (p.Leu415=)
c.1183C>T (p.Leu395=)
 gnomAD v4 COSMIC
6g.24528151T>ACA362979010ALDH5A1c.1328T>A (p.Leu443Gln)
n.443T>A
c.947T>A (p.Leu316Gln)
c.1291T>A
c.1367T>A (p.Leu456Gln)
c.1244T>A (p.Leu415Gln)
c.1184T>A (p.Leu395Gln)
6g.24528151T>CCA362979005ALDH5A1c.1328T>C (p.Leu443Pro)
n.443T>C
c.947T>C (p.Leu316Pro)
c.1291T>C
c.1367T>C (p.Leu456Pro)
c.1244T>C (p.Leu415Pro)
c.1184T>C (p.Leu395Pro)
6g.24528151T>GCA362979007ALDH5A1c.1328T>G (p.Leu443Arg)
n.443T>G
c.947T>G (p.Leu316Arg)
c.1291T>G
c.1367T>G (p.Leu456Arg)
c.1244T>G (p.Leu415Arg)
c.1184T>G (p.Leu395Arg)
6g.24528151_24528152insTCATGTAACA448787730ALDH5A1c.1328_1329insTCATGTAA (p.Ala444HisfsTer16)
n.443_444insTCATGTAA
c.947_948insTCATGTAA (p.Ala317HisfsTer16)
c.1291_1292insTCATGTAA
c.1367_1368insTCATGTAA (p.Ala457HisfsTer16)
c.1244_1245insTCATGTAA (p.Ala416HisfsTer16)
c.1184_1185insTCATGTAA (p.Ala396HisfsTer16)
6g.24528152G>ACA448787731ALDH5A1c.1329G>A (p.Leu443=)
n.444G>A
c.948G>A (p.Leu316=)
c.1292G>A
c.1368G>A (p.Leu456=)
c.1245G>A (p.Leu415=)
c.1185G>A (p.Leu395=)
6g.24528152G>CCA448787733ALDH5A1c.1329G>C (p.Leu443=)
n.444G>C
c.948G>C (p.Leu316=)
c.1292G>C
c.1368G>C (p.Leu456=)
c.1245G>C (p.Leu415=)
c.1185G>C (p.Leu395=)
6g.24528152G>TCA448787735ALDH5A1c.1329G>T (p.Leu443=)
n.444G>T
c.948G>T (p.Leu316=)
c.1292G>T
c.1368G>T (p.Leu456=)
c.1245G>T (p.Leu415=)
c.1185G>T (p.Leu395=)
6g.24528153G>ACA362979013ALDH5A1c.1330G>A (p.Ala444Thr)
n.445G>A
c.949G>A (p.Ala317Thr)
c.1293G>A
c.1369G>A (p.Ala457Thr)
c.1246G>A (p.Ala416Thr)
c.1186G>A (p.Ala396Thr)
6g.24528153G>CCA362979016ALDH5A1c.1330G>C (p.Ala444Pro)
n.445G>C
c.949G>C (p.Ala317Pro)
c.1293G>C
c.1369G>C (p.Ala457Pro)
c.1246G>C (p.Ala416Pro)
c.1186G>C (p.Ala396Pro)
6g.24528153G>TCA362979018ALDH5A1c.1330G>T (p.Ala444Ser)
n.445G>T
c.949G>T (p.Ala317Ser)
c.1293G>T
c.1369G>T (p.Ala457Ser)
c.1246G>T (p.Ala416Ser)
c.1186G>T (p.Ala396Ser)
 COSMIC
6g.24528154C>ACA362979020ALDH5A1c.1331C>A (p.Ala444Glu)
n.446C>A
c.950C>A (p.Ala317Glu)
c.1294C>A
c.1370C>A (p.Ala457Glu)
c.1247C>A (p.Ala416Glu)
c.1187C>A (p.Ala396Glu)
6g.24528154C>GCA362979022ALDH5A1c.1331C>G (p.Ala444Gly)
n.446C>G
c.950C>G (p.Ala317Gly)
c.1294C>G
c.1370C>G (p.Ala457Gly)
c.1247C>G (p.Ala416Gly)
c.1187C>G (p.Ala396Gly)
6g.24528154C>TCA362979023ALDH5A1c.1331C>T (p.Ala444Val)
n.446C>T
c.950C>T (p.Ala317Val)
c.1294C>T
c.1370C>T (p.Ala457Val)
c.1247C>T (p.Ala416Val)
c.1187C>T (p.Ala396Val)
6g.24528154_24528161delCA448787740ALDH5A1c.1331_1338del (p.Ala444AspfsTer14)
n.446_453del
c.950_957del (p.Ala317AspfsTer14)
c.1294_1301del
c.1370_1377del (p.Ala457AspfsTer14)
c.1247_1254del (p.Ala416AspfsTer14)
c.1187_1194del (p.Ala396AspfsTer14)
6g.24528155A>CCA448787741ALDH5A1c.1332A>C (p.Ala444=)
n.447A>C
c.951A>C (p.Ala317=)
c.1295A>C
c.1371A>C (p.Ala457=)
c.1248A>C (p.Ala416=)
c.1188A>C (p.Ala396=)
6g.24528155A>GCA448787742ALDH5A1c.1332A>G (p.Ala444=)
n.447A>G
c.951A>G (p.Ala317=)
c.1295A>G
c.1371A>G (p.Ala457=)
c.1248A>G (p.Ala416=)
c.1188A>G (p.Ala396=)
6g.24528155A>TCA448787744ALDH5A1c.1332A>T (p.Ala444=)
n.447A>T
c.951A>T (p.Ala317=)
c.1295A>T
c.1371A>T (p.Ala457=)
c.1248A>T (p.Ala416=)
c.1188A>T (p.Ala396=)
6g.24528156C>ACA362979028ALDH5A1c.1333C>A (p.Pro445Thr)
n.448C>A
c.952C>A (p.Pro318Thr)
c.1296C>A
c.1372C>A (p.Pro458Thr)
c.1249C>A (p.Pro417Thr)
c.1189C>A (p.Pro397Thr)
6g.24528156C=CA1616534998ALDH5A1c.1333C= (p.Pro445=)
n.448C=
c.952C= (p.Pro318=)
c.1296C=
c.1372C= (p.Pro458=)
c.1249C= (p.Pro417=)
c.1189C= (p.Pro397=)
6g.24528156C>GCA362979034ALDH5A1c.1333C>G (p.Pro445Ala)
n.448C>G
c.952C>G (p.Pro318Ala)
c.1296C>G
c.1372C>G (p.Pro458Ala)
c.1249C>G (p.Pro417Ala)
c.1189C>G (p.Pro397Ala)
6g.24528156C>TCA362979049ALDH5A1c.1333C>T (p.Pro445Ser)
n.448C>T
c.952C>T (p.Pro318Ser)
c.1296C>T
c.1372C>T (p.Pro458Ser)
c.1249C>T (p.Pro417Ser)
c.1189C>T (p.Pro397Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.24528157C>ACA362979052ALDH5A1c.1334C>A (p.Pro445Gln)
n.449C>A
c.953C>A (p.Pro318Gln)
c.1297C>A
c.1373C>A (p.Pro458Gln)
c.1250C>A (p.Pro417Gln)
c.1190C>A (p.Pro397Gln)
6g.24528157C>GCA362979059ALDH5A1c.1334C>G (p.Pro445Arg)
n.449C>G
c.953C>G (p.Pro318Arg)
c.1297C>G
c.1373C>G (p.Pro458Arg)
c.1250C>G (p.Pro417Arg)
c.1190C>G (p.Pro397Arg)
6g.24528157C>TCA362979062ALDH5A1c.1334C>T (p.Pro445Leu)
n.449C>T
c.953C>T (p.Pro318Leu)
c.1297C>T
c.1373C>T (p.Pro458Leu)
c.1250C>T (p.Pro417Leu)
c.1190C>T (p.Pro397Leu)
 COSMIC
6g.24528158A=CA1616534999ALDH5A1c.1335A= (p.Pro445=)
n.450A=
c.954A= (p.Pro318=)
c.1298A=
c.1374A= (p.Pro458=)
c.1251A= (p.Pro417=)
c.1191A= (p.Pro397=)
6g.24528158A>CCA448787749ALDH5A1c.1335A>C (p.Pro445=)
n.450A>C
c.954A>C (p.Pro318=)
c.1298A>C
c.1374A>C (p.Pro458=)
c.1251A>C (p.Pro417=)
c.1191A>C (p.Pro397=)
6g.24528158A>GCA448787751ALDH5A1c.1335A>G (p.Pro445=)
n.450A>G
c.954A>G (p.Pro318=)
c.1298A>G
c.1374A>G (p.Pro458=)
c.1251A>G (p.Pro417=)
c.1191A>G (p.Pro397=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.24528158A>TCA448787752ALDH5A1c.1335A>T (p.Pro445=)
n.450A>T
c.954A>T (p.Pro318=)
c.1298A>T
c.1374A>T (p.Pro458=)
c.1251A>T (p.Pro417=)
c.1191A>T (p.Pro397=)
 ClinVar gnomAD v4
6g.24528159G>ACA3656906ALDH5A1c.1336G>A (p.Val446Ile)
n.451G>A
c.955G>A (p.Val319Ile)
c.1299G>A
c.1375G>A (p.Val459Ile)
c.1252G>A (p.Val418Ile)
c.1192G>A (p.Val398Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24528159G>CCA3656907ALDH5A1c.1336G>C (p.Val446Leu)
n.451G>C
c.955G>C (p.Val319Leu)
c.1299G>C
c.1375G>C (p.Val459Leu)
c.1252G>C (p.Val418Leu)
c.1192G>C (p.Val398Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24528159G=CA1616535000ALDH5A1c.1336G= (p.Val446=)
n.451G=
c.955G= (p.Val319=)
c.1299G=
c.1375G= (p.Val459=)
c.1252G= (p.Val418=)
c.1192G= (p.Val398=)
6g.24528159G>TCA3656905ALDH5A1c.1336G>T (p.Val446Phe)
n.451G>T
c.955G>T (p.Val319Phe)
c.1299G>T
c.1375G>T (p.Val459Phe)
c.1252G>T (p.Val418Phe)
c.1192G>T (p.Val398Phe)
 dbSNP ExAC gnomAD v2
6g.24528160T>ACA362979065ALDH5A1c.1337T>A (p.Val446Asp)
n.452T>A
c.956T>A (p.Val319Asp)
c.1300T>A
c.1376T>A (p.Val459Asp)
c.1253T>A (p.Val418Asp)
c.1193T>A (p.Val398Asp)
 dbSNP
6g.24528160T>CCA362979081ALDH5A1c.1337T>C (p.Val446Ala)
n.452T>C
c.956T>C (p.Val319Ala)
c.1300T>C
c.1376T>C (p.Val459Ala)
c.1253T>C (p.Val418Ala)
c.1193T>C (p.Val398Ala)
6g.24528160T>GCA362979085ALDH5A1c.1337T>G (p.Val446Gly)
n.452T>G
c.956T>G (p.Val319Gly)
c.1300T>G
c.1376T>G (p.Val459Gly)
c.1253T>G (p.Val418Gly)
c.1193T>G (p.Val398Gly)
6g.24528160T=CA1616535001ALDH5A1c.1337T= (p.Val446=)
n.452T=
c.956T= (p.Val319=)
c.1300T=
c.1376T= (p.Val459=)
c.1253T= (p.Val418=)
c.1193T= (p.Val398=)
6g.24528161T>ACA448787757ALDH5A1c.1338T>A (p.Val446=)
n.453T>A
c.957T>A (p.Val319=)
c.1301T>A
c.1377T>A (p.Val459=)
c.1254T>A (p.Val418=)
c.1194T>A (p.Val398=)
6g.24528161T>CCA448787759ALDH5A1c.1338T>C (p.Val446=)
n.453T>C
c.957T>C (p.Val319=)
c.1301T>C
c.1377T>C (p.Val459=)
c.1254T>C (p.Val418=)
c.1194T>C (p.Val398=)
6g.24528161T>GCA448787760ALDH5A1c.1338T>G (p.Val446=)
n.453T>G
c.957T>G (p.Val319=)
c.1301T>G
c.1377T>G (p.Val459=)
c.1254T>G (p.Val418=)
c.1194T>G (p.Val398=)
 ClinVar dbSNP gnomAD v4
6g.24528162delCA2711364615ALDH5A1c.1339del (p.Ile447SerfsTer10)
n.454del
c.958del (p.Ile320SerfsTer10)
c.1302del
c.1378del (p.Ile460SerfsTer10)
c.1255del (p.Ile419SerfsTer10)
c.1195del (p.Ile399SerfsTer10)
 dbSNP
6g.24528162A=CA1616535002ALDH5A1c.1339A= (p.Ile447=)
n.454A=
c.958A= (p.Ile320=)
c.1302A=
c.1378A= (p.Ile460=)
c.1255A= (p.Ile419=)
c.1195A= (p.Ile399=)
6g.24528162A>CCA362979091ALDH5A1c.1339A>C (p.Ile447Leu)
n.454A>C
c.958A>C (p.Ile320Leu)
c.1302A>C
c.1378A>C (p.Ile460Leu)
c.1255A>C (p.Ile419Leu)
c.1195A>C (p.Ile399Leu)
6g.24528162A>GCA3656908ALDH5A1c.1339A>G (p.Ile447Val)
n.454A>G
c.958A>G (p.Ile320Val)
c.1302A>G
c.1378A>G (p.Ile460Val)
c.1255A>G (p.Ile419Val)
c.1195A>G (p.Ile399Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24528162A>TCA362979094ALDH5A1c.1339A>T (p.Ile447Phe)
n.454A>T
c.958A>T (p.Ile320Phe)
c.1302A>T
c.1378A>T (p.Ile460Phe)
c.1255A>T (p.Ile419Phe)
c.1195A>T (p.Ile399Phe)
6g.24528163T>ACA362979111ALDH5A1c.1340T>A (p.Ile447Asn)
n.455T>A
c.959T>A (p.Ile320Asn)
c.1303T>A
c.1379T>A (p.Ile460Asn)
c.1256T>A (p.Ile419Asn)
c.1196T>A (p.Ile399Asn)
6g.24528163T>CCA362979112ALDH5A1c.1340T>C (p.Ile447Thr)
n.455T>C
c.959T>C (p.Ile320Thr)
c.1303T>C
c.1379T>C (p.Ile460Thr)
c.1256T>C (p.Ile419Thr)
c.1196T>C (p.Ile399Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.24528163T>GCA362979115ALDH5A1c.1340T>G (p.Ile447Ser)
n.455T>G
c.959T>G (p.Ile320Ser)
c.1303T>G
c.1379T>G (p.Ile460Ser)
c.1256T>G (p.Ile419Ser)
c.1196T>G (p.Ile399Ser)
6g.24528163T=CA1616535003ALDH5A1c.1340T= (p.Ile447=)
n.455T=
c.959T= (p.Ile320=)
c.1303T=
c.1379T= (p.Ile460=)
c.1256T= (p.Ile419=)
c.1196T= (p.Ile399=)
6g.24528164C>ACA448787765ALDH5A1c.1341C>A (p.Ile447=)
n.456C>A
c.960C>A (p.Ile320=)
c.1304C>A
c.1380C>A (p.Ile460=)
c.1257C>A (p.Ile419=)
c.1197C>A (p.Ile399=)
6g.24528164C=CA1616535004ALDH5A1c.1341C= (p.Ile447=)
n.456C=
c.960C= (p.Ile320=)
c.1304C=
c.1380C= (p.Ile460=)
c.1257C= (p.Ile419=)
c.1197C= (p.Ile399=)
6g.24528164C>GCA362979117ALDH5A1c.1341C>G (p.Ile447Met)
n.456C>G
c.960C>G (p.Ile320Met)
c.1304C>G
c.1380C>G (p.Ile460Met)
c.1257C>G (p.Ile419Met)
c.1197C>G (p.Ile399Met)
 dbSNP gnomAD v2 gnomAD v4
6g.24528164C>TCA448787767ALDH5A1c.1341C>T (p.Ile447=)
n.456C>T
c.960C>T (p.Ile320=)
c.1304C>T
c.1380C>T (p.Ile460=)
c.1257C>T (p.Ile419=)
c.1197C>T (p.Ile399=)
6g.24528165A>CCA362979128ALDH5A1c.1342A>C (p.Lys448Gln)
n.457A>C
c.961A>C (p.Lys321Gln)
c.1305A>C
c.1381A>C (p.Lys461Gln)
c.1258A>C (p.Lys420Gln)
c.1198A>C (p.Lys400Gln)
6g.24528165A>GCA362979132ALDH5A1c.1342A>G (p.Lys448Glu)
n.457A>G
c.961A>G (p.Lys321Glu)
c.1305A>G
c.1381A>G (p.Lys461Glu)
c.1258A>G (p.Lys420Glu)
c.1198A>G (p.Lys400Glu)
6g.24528165A>TCA362979137ALDH5A1c.1342A>T (p.Lys448Ter)
n.457A>T
c.961A>T (p.Lys321Ter)
c.1305A>T
c.1381A>T (p.Lys461Ter)
c.1258A>T (p.Lys420Ter)
c.1198A>T (p.Lys400Ter)
6g.24528166_24528167insTAACA2573140168ALDH5A1c.1343_1343+1insTAA (p.Ile447_Lys448insAsn)
n.458_458+1insTAA
c.962_962+1insTAA (p.Ile320_Lys321insAsn)
c.1306_1306+1insTAA
c.1382_1382+1insTAA (p.Ile460_Lys461insAsn)
c.1259_1259+1insTAA (p.Ile419_Lys420insAsn)
c.1199_1199+1insTAA (p.Ile399_Lys400insAsn)
 ClinVar dbSNP
6g.24528166A=CA1616535005ALDH5A1c.1343A= (p.Lys448=)
n.458A=
c.962A= (p.Lys321=)
c.1306A=
c.1382A= (p.Lys461=)
c.1259A= (p.Lys420=)
c.1199A= (p.Lys400=)
6g.24528166A>CCA362979152ALDH5A1c.1343A>C (p.Lys448Thr)
n.458A>C
c.962A>C (p.Lys321Thr)
c.1306A>C
c.1382A>C (p.Lys461Thr)
c.1259A>C (p.Lys420Thr)
c.1199A>C (p.Lys400Thr)
6g.24528166A>GCA3656909ALDH5A1c.1343A>G (p.Lys448Arg)
n.458A>G
c.962A>G (p.Lys321Arg)
c.1306A>G
c.1382A>G (p.Lys461Arg)
c.1259A>G (p.Lys420Arg)
c.1199A>G (p.Lys400Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24528166A>TCA362979144ALDH5A1c.1343A>T (p.Lys448Met)
n.458A>T
c.962A>T (p.Lys321Met)
c.1306A>T
c.1382A>T (p.Lys461Met)
c.1259A>T (p.Lys420Met)
c.1199A>T (p.Lys400Met)
6g.24528166_24528167delinsAGCA1616535006ALDH5A1c.1343_1343+1delinsAG
n.458_458+1delinsAG
c.962_962+1delinsAG
c.1306_1306+1delinsAG
c.1382_1382+1delinsAG
c.1259_1259+1delinsAG
c.1199_1199+1delinsAG
6g.24528166_24528169delinsAGTACA1616535007ALDH5A1c.1343_1343+3delinsAGTA
n.458_458+3delinsAGTA
c.962_962+3delinsAGTA
c.1306_1306+3delinsAGTA
c.1382_1382+3delinsAGTA
c.1259_1259+3delinsAGTA
c.1199_1199+3delinsAGTA
6g.24528167delCA566286755ALDH5A1c.1343+1del (n.1343+1del)
n.458+1del
c.962+1del (n.962+1del)
c.1306+1del
c.1382+1del (n.1382+1del)
c.1259+1del (n.1259+1del)
c.1199+1del (n.1199+1del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.24528167G>ACA362979153ALDH5A1c.1343+1G>A (n.1343+1G>A)
n.458+1G>A
c.962+1G>A (n.962+1G>A)
c.1306+1G>A
c.1382+1G>A (n.1382+1G>A)
c.1259+1G>A (n.1259+1G>A)
c.1199+1G>A (n.1199+1G>A)
 ClinVar dbSNP
6g.24528167G>CCA362979154ALDH5A1c.1343+1G>C (n.1343+1G>C)
n.458+1G>C
c.962+1G>C (n.962+1G>C)
c.1306+1G>C
c.1382+1G>C (n.1382+1G>C)
c.1259+1G>C (n.1259+1G>C)
c.1199+1G>C (n.1199+1G>C)
6g.24528167G=CA1616535008ALDH5A1c.1343+1G= (n.1343+1G=)
n.458+1G=
c.962+1G= (n.962+1G=)
c.1306+1G=
c.1382+1G= (n.1382+1G=)
c.1259+1G= (n.1259+1G=)
c.1199+1G= (n.1199+1G=)
6g.24528167G>TCA362979155ALDH5A1c.1343+1G>T (n.1343+1G>T)
n.458+1G>T
c.962+1G>T (n.962+1G>T)
c.1306+1G>T
c.1382+1G>T (n.1382+1G>T)
c.1259+1G>T (n.1259+1G>T)
c.1199+1G>T (n.1199+1G>T)
 ClinVar dbSNP
6g.24528167_24528169delinsTTCA10576132ALDH5A1c.1343+1_1343+3delinsTT (n.1343+1_1343+3delinsTT)
n.458+1_458+3delinsTT
c.962+1_962+3delinsTT (n.962+1_962+3delinsTT)
c.1306+1_1306+3delinsTT
c.1382+1_1382+3delinsTT (n.1382+1_1382+3delinsTT)
c.1259+1_1259+3delinsTT (n.1259+1_1259+3delinsTT)
c.1199+1_1199+3delinsTT (n.1199+1_1199+3delinsTT)
 ClinVar dbSNP

Number of alleles fetched