Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.111803875G>A | CA386748100 | ALDH2 | c.1423G>A (p.Val475Met) c.1282G>A (p.Val428Met) c.*1299G>A (n.*1299G>A) c.354G>A | |
12 | g.111803875G>C | CA386748103 | ALDH2 | c.1423G>C (p.Val475Leu) c.1282G>C (p.Val428Leu) c.*1299G>C (n.*1299G>C) c.354G>C | |
12 | g.111803875G>T | CA386748101 | ALDH2 | c.1423G>T (p.Val475Leu) c.1282G>T (p.Val428Leu) c.*1299G>T (n.*1299G>T) c.354G>T | |
12 | g.111803876T>A | CA386748105 | ALDH2 | c.1424T>A (p.Val475Glu) c.1283T>A (p.Val428Glu) c.*1300T>A (n.*1300T>A) c.355T>A | |
12 | g.111803876T>C | CA386748107 | ALDH2 | c.1424T>C (p.Val475Ala) c.1283T>C (p.Val428Ala) c.*1300T>C (n.*1300T>C) c.355T>C | |
12 | g.111803876T>G | CA386748109 | ALDH2 | c.1424T>G (p.Val475Gly) c.1283T>G (p.Val428Gly) c.*1300T>G (n.*1300T>G) c.355T>G | |
12 | g.111803877G>A | CA6793240 | ALDH2 | c.1425G>A (p.Val475=) c.1284G>A (p.Val428=) c.*1301G>A (n.*1301G>A) c.356G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.111803877G>C | CA481775794 | ALDH2 | c.1425G>C (p.Val475=) c.1284G>C (p.Val428=) c.*1301G>C (n.*1301G>C) c.356G>C | |
12 | g.111803877G= | CA2063461283 | ALDH2 | c.1425G= (p.Val475=) c.1284G= (p.Val428=) c.*1301G= (n.*1301G=) c.356G= | |
12 | g.111803877G>T | CA481775793 | ALDH2 | c.1425G>T (p.Val475=) c.1284G>T (p.Val428=) c.*1301G>T (n.*1301G>T) c.356G>T | dbSNP |
12 | g.111803878T>A | CA386748113 | ALDH2 | c.1426T>A (p.Phe476Ile) c.1285T>A (p.Phe429Ile) c.*1302T>A (n.*1302T>A) c.357T>A | |
12 | g.111803878T>C | CA386748115 | ALDH2 | c.1426T>C (p.Phe476Leu) c.1285T>C (p.Phe429Leu) c.*1302T>C (n.*1302T>C) c.357T>C | |
12 | g.111803878T>G | CA386748117 | ALDH2 | c.1426T>G (p.Phe476Val) c.1285T>G (p.Phe429Val) c.*1302T>G (n.*1302T>G) c.357T>G | |
12 | g.111803879T>A | CA386748119 | ALDH2 | c.1427T>A (p.Phe476Tyr) c.1286T>A (p.Phe429Tyr) c.*1303T>A (n.*1303T>A) c.358T>A | |
12 | g.111803879T>C | CA386748121 | ALDH2 | c.1427T>C (p.Phe476Ser) c.1286T>C (p.Phe429Ser) c.*1303T>C (n.*1303T>C) c.358T>C | |
12 | g.111803879T>G | CA386748122 | ALDH2 | c.1427T>G (p.Phe476Cys) c.1286T>G (p.Phe429Cys) c.*1303T>G (n.*1303T>G) c.358T>G | dbSNP |
12 | g.111803879T= | CA2063461285 | ALDH2 | c.1427T= (p.Phe476=) c.1286T= (p.Phe429=) c.*1303T= (n.*1303T=) c.358T= | |
12 | g.111803880T>A | CA386748127 | ALDH2 | c.1428T>A (p.Phe476Leu) c.1287T>A (p.Phe429Leu) c.*1304T>A (n.*1304T>A) c.359T>A | |
12 | g.111803880T>C | CA481775795 | ALDH2 | c.1428T>C (p.Phe476=) c.1287T>C (p.Phe429=) c.*1304T>C (n.*1304T>C) c.359T>C | |
12 | g.111803880T>G | CA386748125 | ALDH2 | c.1428T>G (p.Phe476Leu) c.1287T>G (p.Phe429Leu) c.*1304T>G (n.*1304T>G) c.359T>G | |
12 | g.111803881G>A | CA386748129 | ALDH2 | c.1429G>A (p.Gly477Arg) c.1288G>A (p.Gly430Arg) c.*1305G>A (n.*1305G>A) c.360G>A | gnomAD v4 |
12 | g.111803881G>C | CA386748133 | ALDH2 | c.1429G>C (p.Gly477Arg) c.1288G>C (p.Gly430Arg) c.*1305G>C (n.*1305G>C) c.360G>C | gnomAD v4 |
12 | g.111803881G>T | CA386748131 | ALDH2 | c.1429G>T (p.Gly477Ter) c.1288G>T (p.Gly430Ter) c.*1305G>T (n.*1305G>T) c.360G>T | COSMIC COSMIC |
12 | g.111803882G>A | CA386748135 | ALDH2 | c.1430G>A (p.Gly477Glu) c.1289G>A (p.Gly430Glu) c.*1306G>A (n.*1306G>A) c.361G>A | |
12 | g.111803882G>C | CA386748137 | ALDH2 | c.1430G>C (p.Gly477Ala) c.1289G>C (p.Gly430Ala) c.*1306G>C (n.*1306G>C) c.361G>C | |
12 | g.111803882G>T | CA386748138 | ALDH2 | c.1430G>T (p.Gly477Val) c.1289G>T (p.Gly430Val) c.*1306G>T (n.*1306G>T) c.361G>T | gnomAD v4 |
12 | g.111803883A>C | CA481775796 | ALDH2 | c.1431A>C (p.Gly477=) c.1290A>C (p.Gly430=) c.*1307A>C (n.*1307A>C) c.362A>C | |
12 | g.111803883A>G | CA481775797 | ALDH2 | c.1431A>G (p.Gly477=) c.1290A>G (p.Gly430=) c.*1307A>G (n.*1307A>G) c.362A>G | |
12 | g.111803883A>T | CA481775798 | ALDH2 | c.1431A>T (p.Gly477=) c.1290A>T (p.Gly430=) c.*1307A>T (n.*1307A>T) c.362A>T | |
12 | g.111803884G>A | CA386748141 | ALDH2 | c.1432G>A (p.Ala478Thr) c.1291G>A (p.Ala431Thr) c.*1308G>A (n.*1308G>A) c.363G>A | |
12 | g.111803884G>C | CA386748143 | ALDH2 | c.1432G>C (p.Ala478Pro) c.1291G>C (p.Ala431Pro) c.*1308G>C (n.*1308G>C) c.363G>C | |
12 | g.111803884G>T | CA386748145 | ALDH2 | c.1432G>T (p.Ala478Ser) c.1291G>T (p.Ala431Ser) c.*1308G>T (n.*1308G>T) c.363G>T | gnomAD v4 |
12 | g.111803885C>A | CA386748146 | ALDH2 | c.1433C>A (p.Ala478Asp) c.1292C>A (p.Ala431Asp) c.*1309C>A (n.*1309C>A) c.364C>A | |
12 | g.111803885C= | CA2063461288 | ALDH2 | c.1433C= (p.Ala478=) c.1292C= (p.Ala431=) c.*1309C= (n.*1309C=) c.364C= | |
12 | g.111803885C>G | CA386748148 | ALDH2 | c.1433C>G (p.Ala478Gly) c.1292C>G (p.Ala431Gly) c.*1309C>G (n.*1309C>G) c.364C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.111803885C>T | CA386748149 | ALDH2 | c.1433C>T (p.Ala478Val) c.1292C>T (p.Ala431Val) c.*1309C>T (n.*1309C>T) c.364C>T | gnomAD v4 |
12 | g.111803886C>A | CA481775799 | ALDH2 | c.1434C>A (p.Ala478=) c.1293C>A (p.Ala431=) c.*1310C>A (n.*1310C>A) c.365C>A | |
12 | g.111803886C>G | CA481775800 | ALDH2 | c.1434C>G (p.Ala478=) c.1293C>G (p.Ala431=) c.*1310C>G (n.*1310C>G) c.365C>G | |
12 | g.111803886C>T | CA481775801 | ALDH2 | c.1434C>T (p.Ala478=) c.1293C>T (p.Ala431=) c.*1310C>T (n.*1310C>T) c.365C>T | |
12 | g.111803887C>A | CA386748152 | ALDH2 | c.1435C>A (p.Gln479Lys) c.1294C>A (p.Gln432Lys) c.*1311C>A (n.*1311C>A) c.366C>A | |
12 | g.111803887C>G | CA386748153 | ALDH2 | c.1435C>G (p.Gln479Glu) c.1294C>G (p.Gln432Glu) c.*1311C>G (n.*1311C>G) c.366C>G | |
12 | g.111803887C>T | CA386748155 | ALDH2 | c.1435C>T (p.Gln479Ter) c.1294C>T (p.Gln432Ter) c.*1311C>T (n.*1311C>T) c.366C>T | |
12 | g.111803888A= | CA2063461290 | ALDH2 | c.1436A= (p.Gln479=) c.1295A= (p.Gln432=) c.*1312A= (n.*1312A=) c.367A= | |
12 | g.111803888A>C | CA386748161 | ALDH2 | c.1436A>C (p.Gln479Pro) c.1295A>C (p.Gln432Pro) c.*1312A>C (n.*1312A>C) c.367A>C | |
12 | g.111803888A>G | CA386748158 | ALDH2 | c.1436A>G (p.Gln479Arg) c.1295A>G (p.Gln432Arg) c.*1312A>G (n.*1312A>G) c.367A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.111803888A>T | CA386748159 | ALDH2 | c.1436A>T (p.Gln479Leu) c.1295A>T (p.Gln432Leu) c.*1312A>T (n.*1312A>T) c.367A>T | |
12 | g.111803889G>A | CA481775802 | ALDH2 | c.1437G>A (p.Gln479=) c.1296G>A (p.Gln432=) c.*1313G>A (n.*1313G>A) c.368G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.111803889G>C | CA386748164 | ALDH2 | c.1437G>C (p.Gln479His) c.1296G>C (p.Gln432His) c.*1313G>C (n.*1313G>C) c.368G>C | |
12 | g.111803889G= | CA2063461293 | ALDH2 | c.1437G= (p.Gln479=) c.1296G= (p.Gln432=) c.*1313G= (n.*1313G=) c.368G= | |
12 | g.111803889G>T | CA386748165 | ALDH2 | c.1437G>T (p.Gln479His) c.1296G>T (p.Gln432His) c.*1313G>T (n.*1313G>T) c.368G>T |