| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.24528057C>A | CA448787524 | ALDH5A1 | c.1234C>A (p.Arg412=) n.349C>A c.853C>A (p.Arg285=) c.1197C>A c.1273C>A (p.Arg425=) c.1150C>A (p.Arg384=) c.1090C>A (p.Arg364=) | |
| 6 | g.24528057C= | CA1616534948 | ALDH5A1 | c.1234C= (p.Arg412=) n.349C= c.853C= (p.Arg285=) c.1197C= c.1273C= (p.Arg425=) c.1150C= (p.Arg384=) c.1090C= (p.Arg364=) | |
| 6 | g.24528057C>G | CA362978274 | ALDH5A1 | c.1234C>G (p.Arg412Gly) n.349C>G c.853C>G (p.Arg285Gly) c.1197C>G c.1273C>G (p.Arg425Gly) c.1150C>G (p.Arg384Gly) c.1090C>G (p.Arg364Gly) | |
| 6 | g.24528057C>T | CA251759 | ALDH5A1 | c.1234C>T (p.Arg412Ter) n.349C>T c.853C>T (p.Arg285Ter) c.1197C>T c.1273C>T (p.Arg425Ter) c.1150C>T (p.Arg384Ter) c.1090C>T (p.Arg364Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24528058G>A | CA3656886 | ALDH5A1 | c.1235G>A (p.Arg412Gln) n.350G>A c.854G>A (p.Arg285Gln) c.1198G>A c.1274G>A (p.Arg425Gln) c.1151G>A (p.Arg384Gln) c.1091G>A (p.Arg364Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24528058G>C | CA362978281 | ALDH5A1 | c.1235G>C (p.Arg412Pro) n.350G>C c.854G>C (p.Arg285Pro) c.1198G>C c.1274G>C (p.Arg425Pro) c.1151G>C (p.Arg384Pro) c.1091G>C (p.Arg364Pro) | |
| 6 | g.24528058G= | CA1616534949 | ALDH5A1 | c.1235G= (p.Arg412=) n.350G= c.854G= (p.Arg285=) c.1198G= c.1274G= (p.Arg425=) c.1151G= (p.Arg384=) c.1091G= (p.Arg364=) | |
| 6 | g.24528058G>T | CA362978279 | ALDH5A1 | c.1235G>T (p.Arg412Leu) n.350G>T c.854G>T (p.Arg285Leu) c.1198G>T c.1274G>T (p.Arg425Leu) c.1151G>T (p.Arg384Leu) c.1091G>T (p.Arg364Leu) | gnomAD v4 |
| 6 | g.24528059A>C | CA448787528 | ALDH5A1 | c.1236A>C (p.Arg412=) n.351A>C c.855A>C (p.Arg285=) c.1199A>C c.1275A>C (p.Arg425=) c.1152A>C (p.Arg384=) c.1092A>C (p.Arg364=) | |
| 6 | g.24528059A>G | CA448787530 | ALDH5A1 | c.1236A>G (p.Arg412=) n.351A>G c.855A>G (p.Arg285=) c.1199A>G c.1275A>G (p.Arg425=) c.1152A>G (p.Arg384=) c.1092A>G (p.Arg364=) | |
| 6 | g.24528059A>T | CA448787531 | ALDH5A1 | c.1236A>T (p.Arg412=) n.351A>T c.855A>T (p.Arg285=) c.1199A>T c.1275A>T (p.Arg425=) c.1152A>T (p.Arg384=) c.1092A>T (p.Arg364=) | |
| 6 | g.24528060C>A | CA362978288 | ALDH5A1 | c.1237C>A (p.His413Asn) n.352C>A c.856C>A (p.His286Asn) c.1200C>A c.1276C>A (p.His426Asn) c.1153C>A (p.His385Asn) c.1093C>A (p.His365Asn) | |
| 6 | g.24528060C>G | CA362978293 | ALDH5A1 | c.1237C>G (p.His413Asp) n.352C>G c.856C>G (p.His286Asp) c.1200C>G c.1276C>G (p.His426Asp) c.1153C>G (p.His385Asp) c.1093C>G (p.His365Asp) | |
| 6 | g.24528060C>T | CA362978295 | ALDH5A1 | c.1237C>T (p.His413Tyr) n.352C>T c.856C>T (p.His286Tyr) c.1200C>T c.1276C>T (p.His426Tyr) c.1153C>T (p.His385Tyr) c.1093C>T (p.His365Tyr) | |
| 6 | g.24528061A>C | CA362978296 | ALDH5A1 | c.1238A>C (p.His413Pro) n.353A>C c.857A>C (p.His286Pro) c.1201A>C c.1277A>C (p.His426Pro) c.1154A>C (p.His385Pro) c.1094A>C (p.His365Pro) | |
| 6 | g.24528061A>G | CA362978297 | ALDH5A1 | c.1238A>G (p.His413Arg) n.353A>G c.857A>G (p.His286Arg) c.1201A>G c.1277A>G (p.His426Arg) c.1154A>G (p.His385Arg) c.1094A>G (p.His365Arg) | |
| 6 | g.24528061A>T | CA362978298 | ALDH5A1 | c.1238A>T (p.His413Leu) n.353A>T c.857A>T (p.His286Leu) c.1201A>T c.1277A>T (p.His426Leu) c.1154A>T (p.His385Leu) c.1094A>T (p.His365Leu) | |
| 6 | g.24528062C>A | CA362978301 | ALDH5A1 | c.1239C>A (p.His413Gln) n.354C>A c.858C>A (p.His286Gln) c.1202C>A c.1278C>A (p.His426Gln) c.1155C>A (p.His385Gln) c.1095C>A (p.His365Gln) | |
| 6 | g.24528062C>G | CA362978303 | ALDH5A1 | c.1239C>G (p.His413Gln) n.354C>G c.858C>G (p.His286Gln) c.1202C>G c.1278C>G (p.His426Gln) c.1155C>G (p.His385Gln) c.1095C>G (p.His365Gln) | |
| 6 | g.24528062C>T | CA448787537 | ALDH5A1 | c.1239C>T (p.His413=) n.354C>T c.858C>T (p.His286=) c.1202C>T c.1278C>T (p.His426=) c.1155C>T (p.His385=) c.1095C>T (p.His365=) | |
| 6 | g.24528063C>A | CA362978308 | ALDH5A1 | c.1240C>A (p.Gln414Lys) n.355C>A c.859C>A (p.Gln287Lys) c.1203C>A c.1279C>A (p.Gln427Lys) c.1156C>A (p.Gln386Lys) c.1096C>A (p.Gln366Lys) | |
| 6 | g.24528063C= | CA1616534950 | ALDH5A1 | c.1240C= (p.Gln414=) n.355C= c.859C= (p.Gln287=) c.1203C= c.1279C= (p.Gln427=) c.1156C= (p.Gln386=) c.1096C= (p.Gln366=) | |
| 6 | g.24528063C>G | CA362978316 | ALDH5A1 | c.1240C>G (p.Gln414Glu) n.355C>G c.859C>G (p.Gln287Glu) c.1203C>G c.1279C>G (p.Gln427Glu) c.1156C>G (p.Gln386Glu) c.1096C>G (p.Gln366Glu) | |
| 6 | g.24528063C>T | CA362978319 | ALDH5A1 | c.1240C>T (p.Gln414Ter) n.355C>T c.859C>T (p.Gln287Ter) c.1203C>T c.1279C>T (p.Gln427Ter) c.1156C>T (p.Gln386Ter) c.1096C>T (p.Gln366Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.24528064A>C | CA362978322 | ALDH5A1 | c.1241A>C (p.Gln414Pro) n.356A>C c.860A>C (p.Gln287Pro) c.1204A>C c.1280A>C (p.Gln427Pro) c.1157A>C (p.Gln386Pro) c.1097A>C (p.Gln366Pro) | |
| 6 | g.24528064A>G | CA362978324 | ALDH5A1 | c.1241A>G (p.Gln414Arg) n.356A>G c.860A>G (p.Gln287Arg) c.1204A>G c.1280A>G (p.Gln427Arg) c.1157A>G (p.Gln386Arg) c.1097A>G (p.Gln366Arg) | |
| 6 | g.24528064A>T | CA362978325 | ALDH5A1 | c.1241A>T (p.Gln414Leu) n.356A>T c.860A>T (p.Gln287Leu) c.1204A>T c.1280A>T (p.Gln427Leu) c.1157A>T (p.Gln386Leu) c.1097A>T (p.Gln366Leu) | |
| 6 | g.24528065A>C | CA362978335 | ALDH5A1 | c.1242A>C (p.Gln414His) n.357A>C c.861A>C (p.Gln287His) c.1205A>C c.1281A>C (p.Gln427His) c.1158A>C (p.Gln386His) c.1098A>C (p.Gln366His) | |
| 6 | g.24528065A>G | CA448787542 | ALDH5A1 | c.1242A>G (p.Gln414=) n.357A>G c.861A>G (p.Gln287=) c.1205A>G c.1281A>G (p.Gln427=) c.1158A>G (p.Gln386=) c.1098A>G (p.Gln366=) | gnomAD v4 |
| 6 | g.24528065A>T | CA362978337 | ALDH5A1 | c.1242A>T (p.Gln414His) n.357A>T c.861A>T (p.Gln287His) c.1205A>T c.1281A>T (p.Gln427His) c.1158A>T (p.Gln386His) c.1098A>T (p.Gln366His) | COSMIC |
| 6 | g.24528066C>A | CA362978341 | ALDH5A1 | c.1243C>A (p.Leu415Ile) n.358C>A c.862C>A (p.Leu288Ile) c.1206C>A c.1282C>A (p.Leu428Ile) c.1159C>A (p.Leu387Ile) c.1099C>A (p.Leu367Ile) | ClinVar dbSNP |
| 6 | g.24528066C= | CA1616534951 | ALDH5A1 | c.1243C= (p.Leu415=) n.358C= c.862C= (p.Leu288=) c.1206C= c.1282C= (p.Leu428=) c.1159C= (p.Leu387=) c.1099C= (p.Leu367=) | |
| 6 | g.24528066C>G | CA362978346 | ALDH5A1 | c.1243C>G (p.Leu415Val) n.358C>G c.862C>G (p.Leu288Val) c.1206C>G c.1282C>G (p.Leu428Val) c.1159C>G (p.Leu387Val) c.1099C>G (p.Leu367Val) | |
| 6 | g.24528066C>T | CA362978343 | ALDH5A1 | c.1243C>T (p.Leu415Phe) n.358C>T c.862C>T (p.Leu288Phe) c.1206C>T c.1282C>T (p.Leu428Phe) c.1159C>T (p.Leu387Phe) c.1099C>T (p.Leu367Phe) | |
| 6 | g.24528067T>A | CA362978350 | ALDH5A1 | c.1244T>A (p.Leu415His) n.359T>A c.863T>A (p.Leu288His) c.1207T>A c.1283T>A (p.Leu428His) c.1160T>A (p.Leu387His) c.1100T>A (p.Leu367His) | |
| 6 | g.24528067T>C | CA362978358 | ALDH5A1 | c.1244T>C (p.Leu415Pro) n.359T>C c.863T>C (p.Leu288Pro) c.1207T>C c.1283T>C (p.Leu428Pro) c.1160T>C (p.Leu387Pro) c.1100T>C (p.Leu367Pro) | |
| 6 | g.24528067T>G | CA362978355 | ALDH5A1 | c.1244T>G (p.Leu415Arg) n.359T>G c.863T>G (p.Leu288Arg) c.1207T>G c.1283T>G (p.Leu428Arg) c.1160T>G (p.Leu387Arg) c.1100T>G (p.Leu367Arg) | |
| 6 | g.24528068T>A | CA448787549 | ALDH5A1 | c.1245T>A (p.Leu415=) n.360T>A c.864T>A (p.Leu288=) c.1208T>A c.1284T>A (p.Leu428=) c.1161T>A (p.Leu387=) c.1101T>A (p.Leu367=) | |
| 6 | g.24528068T>C | CA448787550 | ALDH5A1 | c.1245T>C (p.Leu415=) n.360T>C c.864T>C (p.Leu288=) c.1208T>C c.1284T>C (p.Leu428=) c.1161T>C (p.Leu387=) c.1101T>C (p.Leu367=) | |
| 6 | g.24528068T>G | CA3656887 | ALDH5A1 | c.1245T>G (p.Leu415=) n.360T>G c.864T>G (p.Leu288=) c.1208T>G c.1284T>G (p.Leu428=) c.1161T>G (p.Leu387=) c.1101T>G (p.Leu367=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.24528068T= | CA1616534952 | ALDH5A1 | c.1245T= (p.Leu415=) n.360T= c.864T= (p.Leu288=) c.1208T= c.1284T= (p.Leu428=) c.1161T= (p.Leu387=) c.1101T= (p.Leu367=) | |
| 6 | g.24528069G>A | CA362978368 | ALDH5A1 | c.1246G>A (p.Gly416Arg) n.361G>A c.865G>A (p.Gly289Arg) c.1209G>A c.1285G>A (p.Gly429Arg) c.1162G>A (p.Gly388Arg) c.1102G>A (p.Gly368Arg) | gnomAD v4 |
| 6 | g.24528069G>C | CA362978365 | ALDH5A1 | c.1246G>C (p.Gly416Arg) n.361G>C c.865G>C (p.Gly289Arg) c.1209G>C c.1285G>C (p.Gly429Arg) c.1162G>C (p.Gly388Arg) c.1102G>C (p.Gly368Arg) | |
| 6 | g.24528069G>T | CA362978370 | ALDH5A1 | c.1246G>T (p.Gly416Ter) n.361G>T c.865G>T (p.Gly289Ter) c.1209G>T c.1285G>T (p.Gly429Ter) c.1162G>T (p.Gly388Ter) c.1102G>T (p.Gly368Ter) | |
| 6 | g.24528070G>A | CA362978374 | ALDH5A1 | c.1247G>A (p.Gly416Glu) n.362G>A c.866G>A (p.Gly289Glu) c.1210G>A c.1286G>A (p.Gly429Glu) c.1163G>A (p.Gly388Glu) c.1103G>A (p.Gly368Glu) | ClinVar |
| 6 | g.24528070G>C | CA362978376 | ALDH5A1 | c.1247G>C (p.Gly416Ala) n.362G>C c.866G>C (p.Gly289Ala) c.1210G>C c.1286G>C (p.Gly429Ala) c.1163G>C (p.Gly388Ala) c.1103G>C (p.Gly368Ala) | |
| 6 | g.24528070G>T | CA362978379 | ALDH5A1 | c.1247G>T (p.Gly416Val) n.362G>T c.866G>T (p.Gly289Val) c.1210G>T c.1286G>T (p.Gly429Val) c.1163G>T (p.Gly388Val) c.1103G>T (p.Gly368Val) | |
| 6 | g.24528071A>C | CA448787555 | ALDH5A1 | c.1248A>C (p.Gly416=) n.363A>C c.867A>C (p.Gly289=) c.1211A>C c.1287A>C (p.Gly429=) c.1164A>C (p.Gly388=) c.1104A>C (p.Gly368=) | |
| 6 | g.24528071A>G | CA448787556 | ALDH5A1 | c.1248A>G (p.Gly416=) n.363A>G c.867A>G (p.Gly289=) c.1211A>G c.1287A>G (p.Gly429=) c.1164A>G (p.Gly388=) c.1104A>G (p.Gly368=) | |
| 6 | g.24528071A>T | CA448787558 | ALDH5A1 | c.1248A>T (p.Gly416=) n.363A>T c.867A>T (p.Gly289=) c.1211A>T c.1287A>T (p.Gly429=) c.1164A>T (p.Gly388=) c.1104A>T (p.Gly368=) |