Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.111803962G>ACA128085ALDH2c.1510G>A (p.Glu504Lys)
c.1369G>A (p.Glu457Lys)
c.*1386G>A (n.*1386G>A)
c.441G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.111803962G>CCA386748324ALDH2c.1510G>C (p.Glu504Gln)
c.1369G>C (p.Glu457Gln)
c.*1386G>C (n.*1386G>C)
c.441G>C
12g.111803962G=CA2063461447ALDH2c.1510G= (p.Glu504=)
c.1369G= (p.Glu457=)
c.*1386G= (n.*1386G=)
c.441G=
12g.111803962G>TCA386748325ALDH2c.1510G>T (p.Glu504Ter)
c.1369G>T (p.Glu457Ter)
c.*1386G>T (n.*1386G>T)
c.441G>T
12g.111803963A>CCA386748326ALDH2c.1511A>C (p.Glu504Ala)
c.1370A>C (p.Glu457Ala)
c.*1387A>C (n.*1387A>C)
c.442A>C
12g.111803963A>GCA386748327ALDH2c.1511A>G (p.Glu504Gly)
c.1370A>G (p.Glu457Gly)
c.*1387A>G (n.*1387A>G)
c.442A>G
12g.111803963A>TCA386748328ALDH2c.1511A>T (p.Glu504Val)
c.1370A>T (p.Glu457Val)
c.*1387A>T (n.*1387A>T)
c.442A>T
12g.111803964A>CCA386748329ALDH2c.1512A>C (p.Glu504Asp)
c.1371A>C (p.Glu457Asp)
c.*1388A>C (n.*1388A>C)
c.443A>C
12g.111803964A>GCA481775846ALDH2c.1512A>G (p.Glu504=)
c.1371A>G (p.Glu457=)
c.*1388A>G (n.*1388A>G)
c.443A>G
12g.111803964A>TCA386748330ALDH2c.1512A>T (p.Glu504Asp)
c.1371A>T (p.Glu457Asp)
c.*1388A>T (n.*1388A>T)
c.443A>T
12g.111803965G>ACA386748331ALDH2c.1513G>A (p.Val505Met)
c.1372G>A (p.Val458Met)
c.*1389G>A (n.*1389G>A)
c.444G>A
 COSMIC COSMIC
12g.111803965G>CCA386748332ALDH2c.1513G>C (p.Val505Leu)
c.1372G>C (p.Val458Leu)
c.*1389G>C (n.*1389G>C)
c.444G>C
12g.111803965G>TCA386748333ALDH2c.1513G>T (p.Val505Leu)
c.1372G>T (p.Val458Leu)
c.*1389G>T (n.*1389G>T)
c.444G>T
12g.111803966T>ACA386748334ALDH2c.1514T>A (p.Val505Glu)
c.1373T>A (p.Val458Glu)
c.*1390T>A (n.*1390T>A)
c.445T>A
12g.111803966T>CCA386748335ALDH2c.1514T>C (p.Val505Ala)
c.1373T>C (p.Val458Ala)
c.*1390T>C (n.*1390T>C)
c.445T>C
12g.111803966T>GCA386748336ALDH2c.1514T>G (p.Val505Gly)
c.1373T>G (p.Val458Gly)
c.*1390T>G (n.*1390T>G)
c.445T>G
12g.111803967G>ACA6793256ALDH2c.1515G>A (p.Val505=)
c.1374G>A (p.Val458=)
c.*1391G>A (n.*1391G>A)
c.446G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.111803967G>CCA481775847ALDH2c.1515G>C (p.Val505=)
c.1374G>C (p.Val458=)
c.*1391G>C (n.*1391G>C)
c.446G>C
12g.111803967G=CA2063461450ALDH2c.1515G= (p.Val505=)
c.1374G= (p.Val458=)
c.*1391G= (n.*1391G=)
c.446G=
12g.111803967G>TCA481775848ALDH2c.1515G>T (p.Val505=)
c.1374G>T (p.Val458=)
c.*1391G>T (n.*1391G>T)
c.446G>T
12g.111803967_111803968delinsGACA2063461452ALDH2c.1515_1516delinsGA (p.Val505=)
c.1374_1375delinsGA (p.Val458=)
c.*1391_*1392delinsGA (n.*1391_*1392delinsGA)
c.446_447delinsGA
12g.111803968A=CA2063461456ALDH2c.1516A= (p.Lys506=)
c.1375A= (p.Lys459=)
c.*1392A= (n.*1392A=)
c.447A=
12g.111803968A>CCA6793257ALDH2c.1516A>C (p.Lys506Gln)
c.1375A>C (p.Lys459Gln)
c.*1392A>C (n.*1392A>C)
c.447A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.111803968A>GCA386748337ALDH2c.1516A>G (p.Lys506Glu)
c.1375A>G (p.Lys459Glu)
c.*1392A>G (n.*1392A>G)
c.447A>G
12g.111803968A>TCA386748338ALDH2c.1516A>T (p.Lys506Ter)
c.1375A>T (p.Lys459Ter)
c.*1392A>T (n.*1392A>T)
c.447A>T
12g.111803971delCA2063461455ALDH2c.1519del (p.Thr507LeufsTer?)
c.1378del (p.Thr460LeufsTer?)
c.*1395del (n.*1395del)
c.450del
 dbSNP
12g.111803969A>CCA386748339ALDH2c.1517A>C (p.Lys506Thr)
c.1376A>C (p.Lys459Thr)
c.*1393A>C (n.*1393A>C)
c.448A>C
 gnomAD v4
12g.111803969A>GCA386748340ALDH2c.1517A>G (p.Lys506Arg)
c.1376A>G (p.Lys459Arg)
c.*1393A>G (n.*1393A>G)
c.448A>G
12g.111803969A>TCA386748341ALDH2c.1517A>T (p.Lys506Ile)
c.1376A>T (p.Lys459Ile)
c.*1393A>T (n.*1393A>T)
c.448A>T
12g.111803970A>CCA386748342ALDH2c.1518A>C (p.Lys506Asn)
c.1377A>C (p.Lys459Asn)
c.*1394A>C (n.*1394A>C)
c.449A>C
12g.111803970A>GCA481775849ALDH2c.1518A>G (p.Lys506=)
c.1377A>G (p.Lys459=)
c.*1394A>G (n.*1394A>G)
c.449A>G
12g.111803970A>TCA386748343ALDH2c.1518A>T (p.Lys506Asn)
c.1377A>T (p.Lys459Asn)
c.*1394A>T (n.*1394A>T)
c.449A>T
12g.111803971A>CCA386748344ALDH2c.1519A>C (p.Thr507Pro)
c.1378A>C (p.Thr460Pro)
c.*1395A>C (n.*1395A>C)
c.450A>C
12g.111803971A>GCA386748345ALDH2c.1519A>G (p.Thr507Ala)
c.1378A>G (p.Thr460Ala)
c.*1395A>G (n.*1395A>G)
c.450A>G
 gnomAD v4
12g.111803971A>TCA386748346ALDH2c.1519A>T (p.Thr507Ser)
c.1378A>T (p.Thr460Ser)
c.*1395A>T (n.*1395A>T)
c.450A>T
12g.111803972C>ACA386748347ALDH2c.1520C>A (p.Thr507Asn)
c.1379C>A (p.Thr460Asn)
c.*1396C>A (n.*1396C>A)
c.451C>A
 gnomAD v4
12g.111803972C>GCA386748348ALDH2c.1520C>G (p.Thr507Ser)
c.1379C>G (p.Thr460Ser)
c.*1396C>G (n.*1396C>G)
c.451C>G
12g.111803972C>TCA386748349ALDH2c.1520C>T (p.Thr507Ile)
c.1379C>T (p.Thr460Ile)
c.*1396C>T (n.*1396C>T)
c.451C>T
12g.111803972_111803974delinsCTGCA2063461460ALDH2c.1520_1521+1delinsCTG
c.1379_1380+1delinsCTG
c.*1396_*1397+1delinsCTG
c.451_452+1delinsCTG
12g.111803973T>ACA481775852ALDH2c.1521T>A (p.Thr507=)
c.1380T>A (p.Thr460=)
c.*1397T>A (n.*1397T>A)
c.452T>A
12g.111803973T>CCA481775851ALDH2c.1521T>C (p.Thr507=)
c.1380T>C (p.Thr460=)
c.*1397T>C (n.*1397T>C)
c.452T>C
12g.111803973T>GCA481775850ALDH2c.1521T>G (p.Thr507=)
c.1380T>G (p.Thr460=)
c.*1397T>G (n.*1397T>G)
c.452T>G
12g.111803975_111803976delCA607360340ALDH2c.1521+2_1521+3del
c.1380+2_1380+3del
c.*1397+2_*1397+3del
c.452+2_452+3del
 dbSNP gnomAD v2 gnomAD v4
12g.111803974G>ACA386748351ALDH2c.1521+1G>A (n.1521+1G>A)
c.1380+1G>A (n.1380+1G>A)
c.*1397+1G>A (n.*1397+1G>A)
c.452+1G>A
12g.111803974G>CCA386748352ALDH2c.1521+1G>C (n.1521+1G>C)
c.1380+1G>C (n.1380+1G>C)
c.*1397+1G>C (n.*1397+1G>C)
c.452+1G>C
12g.111803974G>TCA386748350ALDH2c.1521+1G>T (n.1521+1G>T)
c.1380+1G>T (n.1380+1G>T)
c.*1397+1G>T (n.*1397+1G>T)
c.452+1G>T
 gnomAD v4
12g.111803975T>ACA386748353ALDH2c.1521+2T>A (n.1521+2T>A)
c.1380+2T>A (n.1380+2T>A)
c.*1397+2T>A (n.*1397+2T>A)
c.452+2T>A
12g.111803975T>CCA386748354ALDH2c.1521+2T>C (n.1521+2T>C)
c.1380+2T>C (n.1380+2T>C)
c.*1397+2T>C (n.*1397+2T>C)
c.452+2T>C
12g.111803975T>GCA386748355ALDH2c.1521+2T>G (n.1521+2T>G)
c.1380+2T>G (n.1380+2T>G)
c.*1397+2T>G (n.*1397+2T>G)
c.452+2T>G
12g.111803976delCA2575407306ALDH2c.1521+3del (n.1521+3del)
c.1380+3del (n.1380+3del)
c.*1397+3del (n.*1397+3del)
c.452+3del

Number of alleles fetched