Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.24528065A>C | CA362978335 | ALDH5A1 | c.1242A>C (p.Gln414His) n.357A>C c.861A>C (p.Gln287His) c.1205A>C c.1281A>C (p.Gln427His) c.1158A>C (p.Gln386His) c.1098A>C (p.Gln366His) | |
6 | g.24528065A>G | CA448787542 | ALDH5A1 | c.1242A>G (p.Gln414=) n.357A>G c.861A>G (p.Gln287=) c.1205A>G c.1281A>G (p.Gln427=) c.1158A>G (p.Gln386=) c.1098A>G (p.Gln366=) | gnomAD v4 |
6 | g.24528065A>T | CA362978337 | ALDH5A1 | c.1242A>T (p.Gln414His) n.357A>T c.861A>T (p.Gln287His) c.1205A>T c.1281A>T (p.Gln427His) c.1158A>T (p.Gln386His) c.1098A>T (p.Gln366His) | COSMIC |
6 | g.24528066C>A | CA362978341 | ALDH5A1 | c.1243C>A (p.Leu415Ile) n.358C>A c.862C>A (p.Leu288Ile) c.1206C>A c.1282C>A (p.Leu428Ile) c.1159C>A (p.Leu387Ile) c.1099C>A (p.Leu367Ile) | ClinVar dbSNP |
6 | g.24528066C= | CA1616534951 | ALDH5A1 | c.1243C= (p.Leu415=) n.358C= c.862C= (p.Leu288=) c.1206C= c.1282C= (p.Leu428=) c.1159C= (p.Leu387=) c.1099C= (p.Leu367=) | |
6 | g.24528066C>G | CA362978346 | ALDH5A1 | c.1243C>G (p.Leu415Val) n.358C>G c.862C>G (p.Leu288Val) c.1206C>G c.1282C>G (p.Leu428Val) c.1159C>G (p.Leu387Val) c.1099C>G (p.Leu367Val) | |
6 | g.24528066C>T | CA362978343 | ALDH5A1 | c.1243C>T (p.Leu415Phe) n.358C>T c.862C>T (p.Leu288Phe) c.1206C>T c.1282C>T (p.Leu428Phe) c.1159C>T (p.Leu387Phe) c.1099C>T (p.Leu367Phe) | |
6 | g.24528067T>A | CA362978350 | ALDH5A1 | c.1244T>A (p.Leu415His) n.359T>A c.863T>A (p.Leu288His) c.1207T>A c.1283T>A (p.Leu428His) c.1160T>A (p.Leu387His) c.1100T>A (p.Leu367His) | |
6 | g.24528067T>C | CA362978358 | ALDH5A1 | c.1244T>C (p.Leu415Pro) n.359T>C c.863T>C (p.Leu288Pro) c.1207T>C c.1283T>C (p.Leu428Pro) c.1160T>C (p.Leu387Pro) c.1100T>C (p.Leu367Pro) | |
6 | g.24528067T>G | CA362978355 | ALDH5A1 | c.1244T>G (p.Leu415Arg) n.359T>G c.863T>G (p.Leu288Arg) c.1207T>G c.1283T>G (p.Leu428Arg) c.1160T>G (p.Leu387Arg) c.1100T>G (p.Leu367Arg) | |
6 | g.24528068T>A | CA448787549 | ALDH5A1 | c.1245T>A (p.Leu415=) n.360T>A c.864T>A (p.Leu288=) c.1208T>A c.1284T>A (p.Leu428=) c.1161T>A (p.Leu387=) c.1101T>A (p.Leu367=) | |
6 | g.24528068T>C | CA448787550 | ALDH5A1 | c.1245T>C (p.Leu415=) n.360T>C c.864T>C (p.Leu288=) c.1208T>C c.1284T>C (p.Leu428=) c.1161T>C (p.Leu387=) c.1101T>C (p.Leu367=) | |
6 | g.24528068T>G | CA3656887 | ALDH5A1 | c.1245T>G (p.Leu415=) n.360T>G c.864T>G (p.Leu288=) c.1208T>G c.1284T>G (p.Leu428=) c.1161T>G (p.Leu387=) c.1101T>G (p.Leu367=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24528068T= | CA1616534952 | ALDH5A1 | c.1245T= (p.Leu415=) n.360T= c.864T= (p.Leu288=) c.1208T= c.1284T= (p.Leu428=) c.1161T= (p.Leu387=) c.1101T= (p.Leu367=) | |
6 | g.24528069G>A | CA362978368 | ALDH5A1 | c.1246G>A (p.Gly416Arg) n.361G>A c.865G>A (p.Gly289Arg) c.1209G>A c.1285G>A (p.Gly429Arg) c.1162G>A (p.Gly388Arg) c.1102G>A (p.Gly368Arg) | gnomAD v4 |
6 | g.24528069G>C | CA362978365 | ALDH5A1 | c.1246G>C (p.Gly416Arg) n.361G>C c.865G>C (p.Gly289Arg) c.1209G>C c.1285G>C (p.Gly429Arg) c.1162G>C (p.Gly388Arg) c.1102G>C (p.Gly368Arg) | |
6 | g.24528069G>T | CA362978370 | ALDH5A1 | c.1246G>T (p.Gly416Ter) n.361G>T c.865G>T (p.Gly289Ter) c.1209G>T c.1285G>T (p.Gly429Ter) c.1162G>T (p.Gly388Ter) c.1102G>T (p.Gly368Ter) | |
6 | g.24528070G>A | CA362978374 | ALDH5A1 | c.1247G>A (p.Gly416Glu) n.362G>A c.866G>A (p.Gly289Glu) c.1210G>A c.1286G>A (p.Gly429Glu) c.1163G>A (p.Gly388Glu) c.1103G>A (p.Gly368Glu) | ClinVar |
6 | g.24528070G>C | CA362978376 | ALDH5A1 | c.1247G>C (p.Gly416Ala) n.362G>C c.866G>C (p.Gly289Ala) c.1210G>C c.1286G>C (p.Gly429Ala) c.1163G>C (p.Gly388Ala) c.1103G>C (p.Gly368Ala) | |
6 | g.24528070G>T | CA362978379 | ALDH5A1 | c.1247G>T (p.Gly416Val) n.362G>T c.866G>T (p.Gly289Val) c.1210G>T c.1286G>T (p.Gly429Val) c.1163G>T (p.Gly388Val) c.1103G>T (p.Gly368Val) | |
6 | g.24528071A>C | CA448787555 | ALDH5A1 | c.1248A>C (p.Gly416=) n.363A>C c.867A>C (p.Gly289=) c.1211A>C c.1287A>C (p.Gly429=) c.1164A>C (p.Gly388=) c.1104A>C (p.Gly368=) | |
6 | g.24528071A>G | CA448787556 | ALDH5A1 | c.1248A>G (p.Gly416=) n.363A>G c.867A>G (p.Gly289=) c.1211A>G c.1287A>G (p.Gly429=) c.1164A>G (p.Gly388=) c.1104A>G (p.Gly368=) | |
6 | g.24528071A>T | CA448787558 | ALDH5A1 | c.1248A>T (p.Gly416=) n.363A>T c.867A>T (p.Gly289=) c.1211A>T c.1287A>T (p.Gly429=) c.1164A>T (p.Gly388=) c.1104A>T (p.Gly368=) | |
6 | g.24528076del | CA2580074249 | ALDH5A1 | c.1253del (p.Asn418IlefsTer?) n.368del c.872del (p.Asn291IlefsTer?) c.1216del c.1292del (p.Asn431IlefsTer?) c.1169del (p.Asn390IlefsTer?) c.1109del (p.Asn370IlefsTer?) | ClinVar |
6 | g.24528072A>C | CA362978384 | ALDH5A1 | c.1249A>C (p.Lys417Gln) n.364A>C c.868A>C (p.Lys290Gln) c.1212A>C c.1288A>C (p.Lys430Gln) c.1165A>C (p.Lys389Gln) c.1105A>C (p.Lys369Gln) | |
6 | g.24528072A>G | CA362978399 | ALDH5A1 | c.1249A>G (p.Lys417Glu) n.364A>G c.868A>G (p.Lys290Glu) c.1212A>G c.1288A>G (p.Lys430Glu) c.1165A>G (p.Lys389Glu) c.1105A>G (p.Lys369Glu) | gnomAD v4 |
6 | g.24528072A>T | CA362978403 | ALDH5A1 | c.1249A>T (p.Lys417Ter) n.364A>T c.868A>T (p.Lys290Ter) c.1212A>T c.1288A>T (p.Lys430Ter) c.1165A>T (p.Lys389Ter) c.1105A>T (p.Lys369Ter) | |
6 | g.24528073A= | CA1616534953 | ALDH5A1 | c.1250A= (p.Lys417=) n.365A= c.869A= (p.Lys290=) c.1213A= c.1289A= (p.Lys430=) c.1166A= (p.Lys389=) c.1106A= (p.Lys369=) | |
6 | g.24528073A>C | CA362978406 | ALDH5A1 | c.1250A>C (p.Lys417Thr) n.365A>C c.869A>C (p.Lys290Thr) c.1213A>C c.1289A>C (p.Lys430Thr) c.1166A>C (p.Lys389Thr) c.1106A>C (p.Lys369Thr) | |
6 | g.24528073A>G | CA3656888 | ALDH5A1 | c.1250A>G (p.Lys417Arg) n.365A>G c.869A>G (p.Lys290Arg) c.1213A>G c.1289A>G (p.Lys430Arg) c.1166A>G (p.Lys389Arg) c.1106A>G (p.Lys369Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24528073A>T | CA362978410 | ALDH5A1 | c.1250A>T (p.Lys417Ile) n.365A>T c.869A>T (p.Lys290Ile) c.1213A>T c.1289A>T (p.Lys430Ile) c.1166A>T (p.Lys389Ile) c.1106A>T (p.Lys369Ile) | |
6 | g.24528074A>C | CA362978423 | ALDH5A1 | c.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) | |
6 | g.24528074A>G | CA448787564 | ALDH5A1 | c.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 |
6 | g.24528074A>T | CA362978426 | ALDH5A1 | c.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) | |
6 | g.24528075A= | CA1616534954 | ALDH5A1 | c.1252A= (p.Asn418=) n.367A= c.871A= (p.Asn291=) c.1215A= c.1291A= (p.Asn431=) c.1168A= (p.Asn390=) c.1108A= (p.Asn370=) | |
6 | g.24528075A>C | CA3656889 | ALDH5A1 | c.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 |
6 | g.24528075A>G | CA362978434 | ALDH5A1 | c.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) | |
6 | g.24528075A>T | CA362978431 | ALDH5A1 | c.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) | |
6 | g.24528076A>C | CA362978435 | ALDH5A1 | c.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) | |
6 | g.24528076A>G | CA362978437 | ALDH5A1 | c.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) | |
6 | g.24528076A>T | CA362978440 | ALDH5A1 | c.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) | |
6 | g.24528076_24528077delinsAT | CA1616534955 | ALDH5A1 | c.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=) | |
6 | g.24528077T>A | CA362978444 | ALDH5A1 | c.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) | |
6 | g.24528077T>C | CA448787570 | ALDH5A1 | c.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 |
6 | g.24528077T>G | CA362978447 | ALDH5A1 | c.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) | |
6 | g.24528077T= | CA1616534956 | ALDH5A1 | c.1254T= (p.Asn418=) n.369T= c.873T= (p.Asn291=) c.1217T= c.1293T= (p.Asn431=) c.1170T= (p.Asn390=) c.1110T= (p.Asn370=) | |
6 | g.24528079del | CA3656890 | ALDH5A1 | c.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 |
6 | g.24528078T>A | CA362978453 | ALDH5A1 | c.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) | |
6 | g.24528078T>C | CA362978456 | ALDH5A1 | c.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) | |
6 | g.24528078T>G | CA362978458 | ALDH5A1 | c.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 |
6 | g.24528078T= | CA1616534957 | ALDH5A1 | c.1255T= (p.Phe419=) n.370T= c.874T= (p.Phe292=) c.1218T= c.1294T= (p.Phe432=) c.1171T= (p.Phe391=) c.1111T= (p.Phe371=) | |
6 | g.24528079T>A | CA362978463 | ALDH5A1 | c.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) | |
6 | g.24528079T>C | CA362978468 | ALDH5A1 | c.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) | |
6 | g.24528079T>G | CA362978471 | ALDH5A1 | c.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) | |
6 | g.24528080C>A | CA3656891 | ALDH5A1 | c.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 |
6 | g.24528080C= | CA1616534958 | ALDH5A1 | c.1257C= (p.Phe419=) n.372C= c.876C= (p.Phe292=) c.1220C= c.1296C= (p.Phe432=) c.1173C= (p.Phe391=) c.1113C= (p.Phe371=) | |
6 | g.24528080C>G | CA362978481 | ALDH5A1 | c.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) | |
6 | g.24528080C>T | CA448787577 | ALDH5A1 | c.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=) | |
6 | g.24528081T>A | CA362978482 | ALDH5A1 | c.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) | |
6 | g.24528081T>C | CA362978483 | ALDH5A1 | c.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) | |
6 | g.24528081T>G | CA362978484 | ALDH5A1 | c.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) | |
6 | g.24528082T>A | CA362978488 | ALDH5A1 | c.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) | |
6 | g.24528082T>C | CA362978489 | ALDH5A1 | c.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) | |
6 | g.24528082T>G | CA362978504 | ALDH5A1 | c.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) | |
6 | g.24528083T>A | CA362978511 | ALDH5A1 | c.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) | |
6 | g.24528083T>C | CA448787584 | ALDH5A1 | c.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=) | |
6 | g.24528083T>G | CA362978516 | ALDH5A1 | c.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) | |
6 | g.24528084G>A | CA362978521 | ALDH5A1 | c.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) | |
6 | g.24528084G>C | CA362978522 | ALDH5A1 | c.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) | |
6 | g.24528084G>T | CA362978523 | ALDH5A1 | c.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) | |
6 | g.24528085A>C | CA362978528 | ALDH5A1 | c.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) | |
6 | g.24528085A>G | CA362978526 | ALDH5A1 | c.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) | |
6 | g.24528085A>T | CA362978524 | ALDH5A1 | c.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) | |
6 | g.24528086G>A | CA136139361 | ALDH5A1 | c.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 |
6 | g.24528086G>C | CA362978531 | ALDH5A1 | c.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) | |
6 | g.24528086G= | CA1616534959 | ALDH5A1 | c.1263G= (p.Glu421=) n.378G= c.882G= (p.Glu294=) c.1226G= c.1302G= (p.Glu434=) c.1179G= (p.Glu393=) c.1119G= (p.Glu373=) | |
6 | g.24528086G>T | CA362978533 | ALDH5A1 | c.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) | |
6 | g.24528087C>A | CA362978539 | ALDH5A1 | c.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) | |
6 | g.24528087C= | CA1616534960 | ALDH5A1 | c.1264C= (p.Pro422=) n.379C= c.883C= (p.Pro295=) c.1227C= c.1303C= (p.Pro435=) c.1180C= (p.Pro394=) c.1120C= (p.Pro374=) | |
6 | g.24528087C>G | CA362978540 | ALDH5A1 | c.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 |
6 | g.24528087C>T | CA3656892 | ALDH5A1 | c.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 |
6 | g.24528088C>A | CA362978541 | ALDH5A1 | c.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) | |
6 | g.24528088C>G | CA362978543 | ALDH5A1 | c.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) | |
6 | g.24528088C>T | CA362978544 | ALDH5A1 | c.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) | |
6 | g.24528089T>A | CA448787594 | ALDH5A1 | c.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=) | |
6 | g.24528089T>C | CA448787595 | ALDH5A1 | c.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 |
6 | g.24528089T>G | CA448787596 | ALDH5A1 | c.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=) | |
6 | g.24528090A= | CA1616534961 | ALDH5A1 | c.1267A= (p.Thr423=) n.382A= c.886A= (p.Thr296=) c.1230A= c.1306A= (p.Thr436=) c.1183A= (p.Thr395=) c.1123A= (p.Thr375=) | |
6 | g.24528090A>C | CA362978546 | ALDH5A1 | c.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) | |
6 | g.24528090A>G | CA362978548 | ALDH5A1 | c.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 |
6 | g.24528090A>T | CA362978555 | ALDH5A1 | c.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 |
6 | g.24528091C>A | CA362978557 | ALDH5A1 | c.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) | |
6 | g.24528091C>G | CA362978558 | ALDH5A1 | c.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) | |
6 | g.24528091C>T | CA362978556 | ALDH5A1 | c.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) | |
6 | g.24528092C>A | CA448787605 | ALDH5A1 | c.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=) | |
6 | g.24528092C= | CA1616534962 | ALDH5A1 | c.1269C= (p.Thr423=) n.384C= c.888C= (p.Thr296=) c.1232C= c.1308C= (p.Thr436=) c.1185C= (p.Thr395=) c.1125C= (p.Thr375=) | |
6 | g.24528092C>G | CA448787604 | ALDH5A1 | c.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=) | |
6 | g.24528092C>T | CA448787602 | ALDH5A1 | c.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 |
6 | g.24528093C>A | CA362978565 | ALDH5A1 | c.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) | |
6 | g.24528093C= | CA1616534963 | ALDH5A1 | c.1270C= (p.Leu424=) n.385C= c.889C= (p.Leu297=) c.1233C= c.1309C= (p.Leu437=) c.1186C= (p.Leu396=) c.1126C= (p.Leu376=) | |
6 | g.24528093C>G | CA362978562 | ALDH5A1 | c.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) | |
6 | g.24528093C>T | CA3656893 | ALDH5A1 | c.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 |
6 | g.24528094T>A | CA362978568 | ALDH5A1 | c.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) | |
6 | g.24528094T>C | CA362978572 | ALDH5A1 | c.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) | |
6 | g.24528094T>G | CA362978575 | ALDH5A1 | c.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) | |
6 | g.24528095G>A | CA448787609 | ALDH5A1 | c.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 |
6 | g.24528095G>C | CA448787610 | ALDH5A1 | c.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=) | |
6 | g.24528095G= | CA1616534964 | ALDH5A1 | c.1272G= (p.Leu424=) n.387G= c.891G= (p.Leu297=) c.1235G= c.1311G= (p.Leu437=) c.1188G= (p.Leu396=) c.1128G= (p.Leu376=) | |
6 | g.24528095G>T | CA448787612 | ALDH5A1 | c.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=) | |
6 | g.24528096C>A | CA362978579 | ALDH5A1 | c.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 |
6 | g.24528096C= | CA1616534965 | ALDH5A1 | c.1273C= (p.Leu425=) n.388C= c.892C= (p.Leu298=) c.1236C= c.1312C= (p.Leu438=) c.1189C= (p.Leu397=) c.1129C= (p.Leu377=) | |
6 | g.24528096C>G | CA362978588 | ALDH5A1 | c.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) | |
6 | g.24528096C>T | CA448787614 | ALDH5A1 | c.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 |
6 | g.24528097T>A | CA362978592 | ALDH5A1 | c.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) | |
6 | g.24528097T>C | CA362978594 | ALDH5A1 | c.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 |
6 | g.24528097T>G | CA362978596 | ALDH5A1 | c.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) | |
6 | g.24528098G>A | CA448787618 | ALDH5A1 | c.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=) | |
6 | g.24528098G>C | CA448787620 | ALDH5A1 | c.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=) | |
6 | g.24528098G>T | CA448787619 | ALDH5A1 | c.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=) | |
6 | g.24528099T>A | CA362978601 | ALDH5A1 | c.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) | |
6 | g.24528099T>C | CA362978604 | ALDH5A1 | c.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) | |
6 | g.24528099T>G | CA362978606 | ALDH5A1 | c.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) | |
6 | g.24528100G>A | CA3656894 | ALDH5A1 | c.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 |
6 | g.24528100G>C | CA362978609 | ALDH5A1 | c.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) | |
6 | g.24528100G= | CA1616534966 | ALDH5A1 | c.1277G= (p.Cys426=) n.392G= c.896G= (p.Cys299=) c.1240G= c.1316G= (p.Cys439=) c.1193G= (p.Cys398=) c.1133G= (p.Cys378=) | |
6 | g.24528100G>T | CA362978614 | ALDH5A1 | c.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) | |
6 | g.24528101C>A | CA362978625 | ALDH5A1 | c.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) | |
6 | g.24528101C>G | CA362978628 | ALDH5A1 | c.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) | |
6 | g.24528101C>T | CA448787627 | ALDH5A1 | c.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=) | |
6 | g.24528102_24528109dup | CA3656895 | ALDH5A1 | c.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 |
6 | g.24528102A= | CA1616534967 | ALDH5A1 | c.1279A= (p.Asn427=) n.394A= c.898A= (p.Asn300=) c.1242A= c.1318A= (p.Asn440=) c.1195A= (p.Asn399=) c.1135A= (p.Asn379=) | |
6 | g.24528102A>C | CA362978631 | ALDH5A1 | c.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 |
6 | g.24528102A>G | CA362978632 | ALDH5A1 | c.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 |
6 | g.24528102A>T | CA362978635 | ALDH5A1 | c.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) | |
6 | g.24528103A= | CA1616534968 | ALDH5A1 | c.1280A= (p.Asn427=) n.395A= c.899A= (p.Asn300=) c.1243A= c.1319A= (p.Asn440=) c.1196A= (p.Asn399=) c.1136A= (p.Asn379=) | |
6 | g.24528103A>C | CA362978638 | ALDH5A1 | c.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) | |
6 | g.24528103A>G | CA3656896 | ALDH5A1 | c.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 |
6 | g.24528103A>T | CA362978644 | ALDH5A1 | c.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) | |
6 | g.24528104T>A | CA362978647 | ALDH5A1 | c.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 |
6 | g.24528104T>C | CA448787633 | ALDH5A1 | c.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=) | |
6 | g.24528104T>G | CA362978648 | ALDH5A1 | c.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) | |
6 | g.24528105G>A | CA362978657 | ALDH5A1 | c.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 |
6 | g.24528105G>C | CA362978656 | ALDH5A1 | c.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) | |
6 | g.24528105G= | CA1616534969 | ALDH5A1 | c.1282G= (p.Val428=) n.397G= c.901G= (p.Val301=) c.1245G= c.1321G= (p.Val441=) c.1198G= (p.Val400=) c.1138G= (p.Val380=) | |
6 | g.24528105G>T | CA362978653 | ALDH5A1 | c.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) | |
6 | g.24528106T>A | CA362978658 | ALDH5A1 | c.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) | |
6 | g.24528106T>C | CA362978659 | ALDH5A1 | c.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) | |
6 | g.24528106T>G | CA362978661 | ALDH5A1 | c.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) | |
6 | g.24528107C>A | CA448787637 | ALDH5A1 | c.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=) | |
6 | g.24528107C>G | CA448787638 | ALDH5A1 | c.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=) | |
6 | g.24528107C>T | CA448787640 | ALDH5A1 | c.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=) | |
6 | g.24528108A= | CA1616534970 | ALDH5A1 | c.1285A= (p.Thr429=) n.400A= c.904A= (p.Thr302=) c.1248A= c.1324A= (p.Thr442=) c.1201A= (p.Thr401=) c.1141A= (p.Thr381=) | |
6 | g.24528108A>C | CA362978665 | ALDH5A1 | c.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) | |
6 | g.24528108A>G | CA362978667 | ALDH5A1 | c.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) | |
6 | g.24528108A>T | CA362978670 | ALDH5A1 | c.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 |
6 | g.24528109C>A | CA362978671 | ALDH5A1 | c.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) | |
6 | g.24528109C= | CA1616534971 | ALDH5A1 | c.1286C= (p.Thr429=) n.401C= c.905C= (p.Thr302=) c.1249C= c.1325C= (p.Thr442=) c.1202C= (p.Thr401=) c.1142C= (p.Thr381=) | |
6 | g.24528109C>G | CA362978672 | ALDH5A1 | c.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) | |
6 | g.24528109C>T | CA362978673 | ALDH5A1 | c.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 |
6 | g.24528110C>A | CA448787646 | ALDH5A1 | c.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=) | |
6 | g.24528110C= | CA1616534972 | ALDH5A1 | c.1287C= (p.Thr429=) n.402C= c.906C= (p.Thr302=) c.1250C= c.1326C= (p.Thr442=) c.1203C= (p.Thr401=) c.1143C= (p.Thr381=) | |
6 | g.24528110C>G | CA448787647 | ALDH5A1 | c.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=) | |
6 | g.24528110C>T | CA448787648 | ALDH5A1 | c.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 |
6 | g.24528111C>A | CA362978677 | ALDH5A1 | c.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 |
6 | g.24528111C= | CA1616534973 | ALDH5A1 | c.1288C= (p.Gln430=) n.403C= c.907C= (p.Gln303=) c.1251C= c.1327C= (p.Gln443=) c.1204C= (p.Gln402=) c.1144C= (p.Gln382=) | |
6 | g.24528111C>G | CA362978682 | ALDH5A1 | c.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 |
6 | g.24528111C>T | CA362978685 | ALDH5A1 | c.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 |
6 | g.24528112A= | CA1616534974 | ALDH5A1 | c.1289A= (p.Gln430=) n.404A= c.908A= (p.Gln303=) c.1252A= c.1328A= (p.Gln443=) c.1205A= (p.Gln402=) c.1145A= (p.Gln382=) | |
6 | g.24528112A>C | CA362978692 | ALDH5A1 | c.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) | |
6 | g.24528112A>G | CA136139418 | ALDH5A1 | c.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 |
6 | g.24528112A>T | CA362978689 | ALDH5A1 | c.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) | |
6 | g.24528113G>A | CA448787655 | ALDH5A1 | c.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=) | |
6 | g.24528113G>C | CA362978694 | ALDH5A1 | c.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 |
6 | g.24528113G= | CA1616534975 | ALDH5A1 | c.1290G= (p.Gln430=) n.405G= c.909G= (p.Gln303=) c.1253G= c.1329G= (p.Gln443=) c.1206G= (p.Gln402=) c.1146G= (p.Gln382=) | |
6 | g.24528113G>T | CA362978697 | ALDH5A1 | c.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) | |
6 | g.24528114G>A | CA362978703 | ALDH5A1 | c.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 |
6 | g.24528114G>C | CA362978706 | ALDH5A1 | c.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 |
6 | g.24528114G= | CA1616534976 | ALDH5A1 | c.1291G= (p.Asp431=) n.406G= c.910G= (p.Asp304=) c.1254G= c.1330G= (p.Asp444=) c.1207G= (p.Asp403=) c.1147G= (p.Asp383=) | |
6 | g.24528114G>T | CA362978710 | ALDH5A1 | c.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) | |
6 | g.24528115A>C | CA362978713 | ALDH5A1 | c.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) | |
6 | g.24528115A>G | CA362978716 | ALDH5A1 | c.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) | |
6 | g.24528115A>T | CA362978719 | ALDH5A1 | c.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) | |
6 | g.24528116C>A | CA362978721 | ALDH5A1 | c.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) | |
6 | g.24528116C>G | CA362978726 | ALDH5A1 | c.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) | |
6 | g.24528116C>T | CA448787661 | ALDH5A1 | c.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=) | |
6 | g.24528117A= | CA1616534977 | ALDH5A1 | c.1294A= (p.Met432=) n.409A= c.913A= (p.Met305=) c.1257A= c.1333A= (p.Met445=) c.1210A= (p.Met404=) c.1150A= (p.Met384=) | |
6 | g.24528117A>C | CA362978728 | ALDH5A1 | c.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 |
6 | g.24528117A>G | CA362978731 | ALDH5A1 | c.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 |
6 | g.24528117A>T | CA362978733 | ALDH5A1 | c.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) | |
6 | g.24528118T>A | CA362978746 | ALDH5A1 | c.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) | |
6 | g.24528118T>C | CA362978748 | ALDH5A1 | c.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) | |
6 | g.24528118T>G | CA362978743 | ALDH5A1 | c.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) | |
6 | g.24528118T= | CA1616534978 | ALDH5A1 | c.1295T= (p.Met432=) n.410T= c.914T= (p.Met305=) c.1258T= c.1334T= (p.Met445=) c.1211T= (p.Met404=) c.1151T= (p.Met384=) | |
6 | g.24528119G>A | CA3656897 | ALDH5A1 | c.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 |
6 | g.24528119G>C | CA362978750 | ALDH5A1 | c.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 |
6 | g.24528119G= | CA1616534979 | ALDH5A1 | c.1296G= (p.Met432=) n.411G= c.915G= (p.Met305=) c.1259G= c.1335G= (p.Met445=) c.1212G= (p.Met404=) c.1152G= (p.Met384=) | |
6 | g.24528119G>T | CA362978751 | ALDH5A1 | c.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) | |
6 | g.24528119dup | CA1616534980 | ALDH5A1 | c.1296dup (p.Leu433AlafsTer5) n.411dup c.915dup (p.Leu306AlafsTer5) c.1259dup c.1335dup (p.Leu446AlafsTer5) c.1212dup (p.Leu405AlafsTer5) c.1152dup (p.Leu385AlafsTer5) | dbSNP |
6 | g.24528120C>A | CA362978753 | ALDH5A1 | c.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) | |
6 | g.24528120C= | CA1616534981 | ALDH5A1 | c.1297C= (p.Leu433=) n.412C= c.916C= (p.Leu306=) c.1260C= c.1336C= (p.Leu446=) c.1213C= (p.Leu405=) c.1153C= (p.Leu385=) | |
6 | g.24528120C>G | CA362978756 | ALDH5A1 | c.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) | |
6 | g.24528120C>T | CA136139425 | ALDH5A1 | c.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 |
6 | g.24528121T>A | CA362978759 | ALDH5A1 | c.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) | |
6 | g.24528121T>C | CA362978760 | ALDH5A1 | c.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) | |
6 | g.24528121T>G | CA362978761 | ALDH5A1 | c.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 |
6 | g.24528121T= | CA1616534982 | ALDH5A1 | c.1298T= (p.Leu433=) n.413T= c.917T= (p.Leu306=) c.1261T= c.1337T= (p.Leu446=) c.1214T= (p.Leu405=) c.1154T= (p.Leu385=) | |
6 | g.24528122G>A | CA448787669 | ALDH5A1 | c.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 |
6 | g.24528122G>C | CA3656898 | ALDH5A1 | c.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 |
6 | g.24528122G= | CA1616534983 | ALDH5A1 | c.1299G= (p.Leu433=) n.414G= c.918G= (p.Leu306=) c.1262G= c.1338G= (p.Leu446=) c.1215G= (p.Leu405=) c.1155G= (p.Leu385=) | |
6 | g.24528122G>T | CA448787672 | ALDH5A1 | c.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=) | |
6 | g.24528123T>A | CA362978765 | ALDH5A1 | c.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) | |
6 | g.24528123T>C | CA362978766 | ALDH5A1 | c.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) | |
6 | g.24528123T>G | CA362978773 | ALDH5A1 | c.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) | |
6 | g.24528124G>A | CA362978776 | ALDH5A1 | c.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) | |
6 | g.24528124G>C | CA362978778 | ALDH5A1 | c.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) | |
6 | g.24528124G>T | CA362978781 | ALDH5A1 | c.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) | |
6 | g.24528124_24528125del | CA2515377944 | ALDH5A1 | c.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) | |
6 | g.24528125C>A | CA362978785 | ALDH5A1 | c.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) | |
6 | g.24528125C= | CA1616534984 | ALDH5A1 | c.1302C= (p.Cys434=) n.417C= c.921C= (p.Cys307=) c.1265C= c.1341C= (p.Cys447=) c.1218C= (p.Cys406=) c.1158C= (p.Cys386=) | |
6 | g.24528125C>G | CA362978788 | ALDH5A1 | c.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) | |
6 | g.24528125C>T | CA448787677 | ALDH5A1 | c.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 |
6 | g.24528126A= | CA1616534985 | ALDH5A1 | c.1303A= (p.Thr435=) n.418A= c.922A= (p.Thr308=) c.1266A= c.1342A= (p.Thr448=) c.1219A= (p.Thr407=) c.1159A= (p.Thr387=) | |
6 | g.24528126A>C | CA362978793 | ALDH5A1 | c.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 |
6 | g.24528126A>G | CA362978794 | ALDH5A1 | c.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 |
6 | g.24528126A>T | CA362978797 | ALDH5A1 | c.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) | |
6 | g.24528127C>A | CA362978800 | ALDH5A1 | c.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) | |
6 | g.24528127C>G | CA362978801 | ALDH5A1 | c.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) | |
6 | g.24528127C>T | CA362978802 | ALDH5A1 | c.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) | |
6 | g.24528128T>A | CA448787682 | ALDH5A1 | c.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=) | |
6 | g.24528128T>C | CA136139433 | ALDH5A1 | c.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 |
6 | g.24528128T>G | CA448787683 | ALDH5A1 | c.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=) | |
6 | g.24528128T= | CA1616534986 | ALDH5A1 | c.1305T= (p.Thr435=) n.420T= c.924T= (p.Thr308=) c.1268T= c.1344T= (p.Thr448=) c.1221T= (p.Thr407=) c.1161T= (p.Thr387=) | |
6 | g.24528129C>A | CA362978804 | ALDH5A1 | c.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) | |
6 | g.24528129C>G | CA362978806 | ALDH5A1 | c.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 |
6 | g.24528129C>T | CA362978808 | ALDH5A1 | c.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 |
6 | g.24528130A>C | CA362978810 | ALDH5A1 | c.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 |
6 | g.24528130A>G | CA362978811 | ALDH5A1 | c.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) | |
6 | g.24528130A>T | CA362978819 | ALDH5A1 | c.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) | |
6 | g.24528131T>A | CA362978829 | ALDH5A1 | c.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) | |
6 | g.24528131T>C | CA136139434 | ALDH5A1 | c.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 |
6 | g.24528131T>G | CA3656899 | ALDH5A1 | c.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 |
6 | g.24528131T= | CA1616534987 | ALDH5A1 | c.1308T= (p.His436=) n.423T= c.927T= (p.His309=) c.1271T= c.1347T= (p.His449=) c.1224T= (p.His408=) c.1164T= (p.His388=) | |
6 | g.24528132G>A | CA3656900 | ALDH5A1 | c.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 |
6 | g.24528132G>C | CA362978834 | ALDH5A1 | c.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) | |
6 | g.24528132G= | CA1616534988 | ALDH5A1 | c.1309G= (p.Glu437=) n.424G= c.928G= (p.Glu310=) c.1272G= c.1348G= (p.Glu450=) c.1225G= (p.Glu409=) c.1165G= (p.Glu389=) | |
6 | g.24528132G>T | CA362978835 | ALDH5A1 | c.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) | |
6 | g.24528134_24528136del | CA2677529500 | ALDH5A1 | c.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 |
6 | g.24528133A= | CA1616534989 | ALDH5A1 | c.1310A= (p.Glu437=) n.425A= c.929A= (p.Glu310=) c.1273A= c.1349A= (p.Glu450=) c.1226A= (p.Glu409=) c.1166A= (p.Glu389=) | |
6 | g.24528133A>C | CA362978838 | ALDH5A1 | c.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) | |
6 | g.24528133A>G | CA3656901 | ALDH5A1 | c.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 |
6 | g.24528133A>T | CA362978847 | ALDH5A1 | c.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) | |
6 | g.24528134A>C | CA362978852 | ALDH5A1 | c.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) | |
6 | g.24528134A>G | CA448787692 | ALDH5A1 | c.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=) | |
6 | g.24528134A>T | CA362978856 | ALDH5A1 | c.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) | |
6 | g.24528135G>A | CA362978867 | ALDH5A1 | c.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) | |
6 | g.24528135G>C | CA362978870 | ALDH5A1 | c.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) | |
6 | g.24528135G>T | CA362978875 | ALDH5A1 | c.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) | |
6 | g.24528136A>C | CA362978880 | ALDH5A1 | c.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) | |
6 | g.24528136A>G | CA362978883 | ALDH5A1 | c.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) | |
6 | g.24528136A>T | CA362978892 | ALDH5A1 | c.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) | |
6 | g.24528137G>A | CA448787698 | ALDH5A1 | c.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 |
6 | g.24528137G>C | CA362978895 | ALDH5A1 | c.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 |
6 | g.24528137G= | CA1616534990 | ALDH5A1 | c.1314G= (p.Glu438=) n.429G= c.933G= (p.Glu311=) c.1277G= c.1353G= (p.Glu451=) c.1230G= (p.Glu410=) c.1170G= (p.Glu390=) | |
6 | g.24528137G>T | CA362978898 | ALDH5A1 | c.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) | |
6 | g.24528138A= | CA1616534991 | ALDH5A1 | c.1315A= (p.Thr439=) n.430A= c.934A= (p.Thr312=) c.1278A= c.1354A= (p.Thr452=) c.1231A= (p.Thr411=) c.1171A= (p.Thr391=) | |
6 | g.24528138A>C | CA362978902 | ALDH5A1 | c.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) | |
6 | g.24528138A>G | CA362978905 | ALDH5A1 | c.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) | |
6 | g.24528138A>T | CA362978907 | ALDH5A1 | c.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 |
6 | g.24528139C>A | CA362978909 | ALDH5A1 | c.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 |
6 | g.24528139C= | CA1616534992 | ALDH5A1 | c.1316C= (p.Thr439=) n.431C= c.935C= (p.Thr312=) c.1279C= c.1355C= (p.Thr452=) c.1232C= (p.Thr411=) c.1172C= (p.Thr391=) | |
6 | g.24528139C>G | CA362978913 | ALDH5A1 | c.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) | |
6 | g.24528139C>T | CA3656902 | ALDH5A1 | c.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 |
6 | g.24528140T>A | CA448787705 | ALDH5A1 | c.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 |
6 | g.24528140T>C | CA448787704 | ALDH5A1 | c.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=) | |
6 | g.24528140T>G | CA448787706 | ALDH5A1 | c.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=) | |
6 | g.24528141T>A | CA362978925 | ALDH5A1 | c.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) | |
6 | g.24528141T>C | CA362978926 | ALDH5A1 | c.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) | |
6 | g.24528141T>G | CA362978927 | ALDH5A1 | c.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 |
6 | g.24528142T>A | CA362978930 | ALDH5A1 | c.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 |
6 | g.24528142T>C | CA362978936 | ALDH5A1 | c.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 |
6 | g.24528142T>G | CA362978947 | ALDH5A1 | c.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) | |
6 | g.24528142T= | CA1616534993 | ALDH5A1 | c.1319T= (p.Phe440=) n.434T= c.938T= (p.Phe313=) c.1282T= c.1358T= (p.Phe453=) c.1235T= (p.Phe412=) c.1175T= (p.Phe392=) | |
6 | g.24528143del | CA2552450596 | ALDH5A1 | c.1320del (p.Phe440LeufsTer17) n.435del c.939del (p.Phe313LeufsTer17) c.1283del c.1359del (p.Phe453LeufsTer17) c.1236del (p.Phe412LeufsTer17) c.1176del (p.Phe392LeufsTer17) | |
6 | g.24528143C>A | CA362978952 | ALDH5A1 | c.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 |
6 | g.24528143C= | CA1616534994 | ALDH5A1 | c.1320C= (p.Phe440=) n.435C= c.939C= (p.Phe313=) c.1283C= c.1359C= (p.Phe453=) c.1236C= (p.Phe412=) c.1176C= (p.Phe392=) | |
6 | g.24528143C>G | CA3656904 | ALDH5A1 | c.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 |
6 | g.24528143C>T | CA3656903 | ALDH5A1 | c.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 |
6 | g.24528144G>A | CA136139450 | ALDH5A1 | c.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 |
6 | g.24528144G>C | CA362978955 | ALDH5A1 | c.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) | |
6 | g.24528144G= | CA1616534995 | ALDH5A1 | c.1321G= (p.Gly441=) n.436G= c.940G= (p.Gly314=) c.1284G= c.1360G= (p.Gly454=) c.1237G= (p.Gly413=) c.1177G= (p.Gly393=) | |
6 | g.24528144G>T | CA362978957 | ALDH5A1 | c.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 |
6 | g.24528146dup | CA913189874 | ALDH5A1 | c.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 |
6 | g.24528145G>A | CA362978960 | ALDH5A1 | c.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) | |
6 | g.24528145G>C | CA362978961 | ALDH5A1 | c.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) | |
6 | g.24528145G>T | CA362978962 | ALDH5A1 | c.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 |
6 | g.24528146G>A | CA448787714 | ALDH5A1 | c.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 |
6 | g.24528146G>C | CA448787715 | ALDH5A1 | c.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=) | |
6 | g.24528146G= | CA1616534996 | ALDH5A1 | c.1323G= (p.Gly441=) n.438G= c.942G= (p.Gly314=) c.1286G= c.1362G= (p.Gly454=) c.1239G= (p.Gly413=) c.1179G= (p.Gly393=) | |
6 | g.24528146G>T | CA448787717 | ALDH5A1 | c.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=) | |
6 | g.24528147C>A | CA362978968 | ALDH5A1 | c.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) | |
6 | g.24528147C= | CA1616534997 | ALDH5A1 | c.1324C= (p.Pro442=) n.439C= c.943C= (p.Pro315=) c.1287C= c.1363C= (p.Pro455=) c.1240C= (p.Pro414=) c.1180C= (p.Pro394=) | |
6 | g.24528147C>G | CA362978971 | ALDH5A1 | c.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) | |
6 | g.24528147C>T | CA136139451 | ALDH5A1 | c.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 |
6 | g.24528148C>A | CA362978977 | ALDH5A1 | c.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) | |
6 | g.24528148C>G | CA362978987 | ALDH5A1 | c.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 |
6 | g.24528148C>T | CA362978993 | ALDH5A1 | c.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) | |
6 | g.24528149T>A | CA448787722 | ALDH5A1 | c.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=) | |
6 | g.24528149T>C | CA448787723 | ALDH5A1 | c.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=) | |
6 | g.24528149T>G | CA448787725 | ALDH5A1 | c.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=) | |
6 | g.24528150C>A | CA362979000 | ALDH5A1 | c.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 |
6 | g.24528150C>G | CA362979002 | ALDH5A1 | c.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) | |
6 | g.24528150C>T | CA448787727 | ALDH5A1 | c.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 |
6 | g.24528151T>A | CA362979010 | ALDH5A1 | c.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) | |
6 | g.24528151T>C | CA362979005 | ALDH5A1 | c.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) | |
6 | g.24528151T>G | CA362979007 | ALDH5A1 | c.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) | |
6 | g.24528151_24528152insTCATGTAA | CA448787730 | ALDH5A1 | c.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) | |
6 | g.24528152G>A | CA448787731 | ALDH5A1 | c.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=) | |
6 | g.24528152G>C | CA448787733 | ALDH5A1 | c.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=) | |
6 | g.24528152G>T | CA448787735 | ALDH5A1 | c.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=) | |
6 | g.24528153G>A | CA362979013 | ALDH5A1 | c.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) | |
6 | g.24528153G>C | CA362979016 | ALDH5A1 | c.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) | |
6 | g.24528153G>T | CA362979018 | ALDH5A1 | c.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 |
6 | g.24528154C>A | CA362979020 | ALDH5A1 | c.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) | |
6 | g.24528154C>G | CA362979022 | ALDH5A1 | c.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) | |
6 | g.24528154C>T | CA362979023 | ALDH5A1 | c.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) | |
6 | g.24528154_24528161del | CA448787740 | ALDH5A1 | c.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) | |
6 | g.24528155A>C | CA448787741 | ALDH5A1 | c.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=) | |
6 | g.24528155A>G | CA448787742 | ALDH5A1 | c.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=) | |
6 | g.24528155A>T | CA448787744 | ALDH5A1 | c.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=) | |
6 | g.24528156C>A | CA362979028 | ALDH5A1 | c.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) | |
6 | g.24528156C= | CA1616534998 | ALDH5A1 | c.1333C= (p.Pro445=) n.448C= c.952C= (p.Pro318=) c.1296C= c.1372C= (p.Pro458=) c.1249C= (p.Pro417=) c.1189C= (p.Pro397=) | |
6 | g.24528156C>G | CA362979034 | ALDH5A1 | c.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) | |
6 | g.24528156C>T | CA362979049 | ALDH5A1 | c.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 |
6 | g.24528157C>A | CA362979052 | ALDH5A1 | c.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) | |
6 | g.24528157C>G | CA362979059 | ALDH5A1 | c.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) | |
6 | g.24528157C>T | CA362979062 | ALDH5A1 | c.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 |
6 | g.24528158A= | CA1616534999 | ALDH5A1 | c.1335A= (p.Pro445=) n.450A= c.954A= (p.Pro318=) c.1298A= c.1374A= (p.Pro458=) c.1251A= (p.Pro417=) c.1191A= (p.Pro397=) | |
6 | g.24528158A>C | CA448787749 | ALDH5A1 | c.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=) | |
6 | g.24528158A>G | CA448787751 | ALDH5A1 | c.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 |
6 | g.24528158A>T | CA448787752 | ALDH5A1 | c.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 |
6 | g.24528159G>A | CA3656906 | ALDH5A1 | c.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 |
6 | g.24528159G>C | CA3656907 | ALDH5A1 | c.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 |
6 | g.24528159G= | CA1616535000 | ALDH5A1 | c.1336G= (p.Val446=) n.451G= c.955G= (p.Val319=) c.1299G= c.1375G= (p.Val459=) c.1252G= (p.Val418=) c.1192G= (p.Val398=) | |
6 | g.24528159G>T | CA3656905 | ALDH5A1 | c.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 |
6 | g.24528160T>A | CA362979065 | ALDH5A1 | c.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 |
6 | g.24528160T>C | CA362979081 | ALDH5A1 | c.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) | |
6 | g.24528160T>G | CA362979085 | ALDH5A1 | c.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) | |
6 | g.24528160T= | CA1616535001 | ALDH5A1 | c.1337T= (p.Val446=) n.452T= c.956T= (p.Val319=) c.1300T= c.1376T= (p.Val459=) c.1253T= (p.Val418=) c.1193T= (p.Val398=) | |
6 | g.24528161T>A | CA448787757 | ALDH5A1 | c.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=) | |
6 | g.24528161T>C | CA448787759 | ALDH5A1 | c.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=) | |
6 | g.24528161T>G | CA448787760 | ALDH5A1 | c.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 |
6 | g.24528162del | CA2711364615 | ALDH5A1 | c.1339del (p.Ile447SerfsTer10) n.454del c.958del (p.Ile320SerfsTer10) c.1302del c.1378del (p.Ile460SerfsTer10) c.1255del (p.Ile419SerfsTer10) c.1195del (p.Ile399SerfsTer10) | dbSNP |
6 | g.24528162A= | CA1616535002 | ALDH5A1 | c.1339A= (p.Ile447=) n.454A= c.958A= (p.Ile320=) c.1302A= c.1378A= (p.Ile460=) c.1255A= (p.Ile419=) c.1195A= (p.Ile399=) | |
6 | g.24528162A>C | CA362979091 | ALDH5A1 | c.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) | |
6 | g.24528162A>G | CA3656908 | ALDH5A1 | c.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 |
6 | g.24528162A>T | CA362979094 | ALDH5A1 | c.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) | |
6 | g.24528163T>A | CA362979111 | ALDH5A1 | c.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) | |
6 | g.24528163T>C | CA362979112 | ALDH5A1 | c.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 |
6 | g.24528163T>G | CA362979115 | ALDH5A1 | c.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) | |
6 | g.24528163T= | CA1616535003 | ALDH5A1 | c.1340T= (p.Ile447=) n.455T= c.959T= (p.Ile320=) c.1303T= c.1379T= (p.Ile460=) c.1256T= (p.Ile419=) c.1196T= (p.Ile399=) | |
6 | g.24528164C>A | CA448787765 | ALDH5A1 | c.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=) | |
6 | g.24528164C= | CA1616535004 | ALDH5A1 | c.1341C= (p.Ile447=) n.456C= c.960C= (p.Ile320=) c.1304C= c.1380C= (p.Ile460=) c.1257C= (p.Ile419=) c.1197C= (p.Ile399=) | |
6 | g.24528164C>G | CA362979117 | ALDH5A1 | c.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 |
6 | g.24528164C>T | CA448787767 | ALDH5A1 | c.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=) | |
6 | g.24528165A>C | CA362979128 | ALDH5A1 | c.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) | |
6 | g.24528165A>G | CA362979132 | ALDH5A1 | c.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) | |
6 | g.24528165A>T | CA362979137 | ALDH5A1 | c.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) | |
6 | g.24528166_24528167insTAA | CA2573140168 | ALDH5A1 | c.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 |