Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.111803862C>A | CA481775786 | ALDH2 | c.1410C>A (p.Val470=) c.1269C>A (p.Val423=) c.*1286C>A (n.*1286C>A) c.341C>A | gnomAD v4 |
12 | g.111803862C>G | CA481775787 | ALDH2 | c.1410C>G (p.Val470=) c.1269C>G (p.Val423=) c.*1286C>G (n.*1286C>G) c.341C>G | |
12 | g.111803862C>T | CA481775788 | ALDH2 | c.1410C>T (p.Val470=) c.1269C>T (p.Val423=) c.*1286C>T (n.*1286C>T) c.341C>T | |
12 | g.111803863A>C | CA386748043 | ALDH2 | c.1411A>C (p.Asn471His) c.1270A>C (p.Asn424His) c.*1287A>C (n.*1287A>C) c.342A>C | |
12 | g.111803863A>G | CA386748042 | ALDH2 | c.1411A>G (p.Asn471Asp) c.1270A>G (p.Asn424Asp) c.*1287A>G (n.*1287A>G) c.342A>G | |
12 | g.111803863A>T | CA386748040 | ALDH2 | c.1411A>T (p.Asn471Tyr) c.1270A>T (p.Asn424Tyr) c.*1287A>T (n.*1287A>T) c.342A>T | |
12 | g.111803864A>C | CA386748045 | ALDH2 | c.1412A>C (p.Asn471Thr) c.1271A>C (p.Asn424Thr) c.*1288A>C (n.*1288A>C) c.343A>C | |
12 | g.111803864A>G | CA386748047 | ALDH2 | c.1412A>G (p.Asn471Ser) c.1271A>G (p.Asn424Ser) c.*1288A>G (n.*1288A>G) c.343A>G | |
12 | g.111803864A>T | CA386748049 | ALDH2 | c.1412A>T (p.Asn471Ile) c.1271A>T (p.Asn424Ile) c.*1288A>T (n.*1288A>T) c.343A>T | |
12 | g.111803865C>A | CA386748051 | ALDH2 | c.1413C>A (p.Asn471Lys) c.1272C>A (p.Asn424Lys) c.*1289C>A (n.*1289C>A) c.344C>A | |
12 | g.111803865C>G | CA386748052 | ALDH2 | c.1413C>G (p.Asn471Lys) c.1272C>G (p.Asn424Lys) c.*1289C>G (n.*1289C>G) c.344C>G | |
12 | g.111803865C>T | CA481775789 | ALDH2 | c.1413C>T (p.Asn471=) c.1272C>T (p.Asn424=) c.*1289C>T (n.*1289C>T) c.344C>T | |
12 | g.111803866T>A | CA386748054 | ALDH2 | c.1414T>A (p.Cys472Ser) c.1273T>A (p.Cys425Ser) c.*1290T>A (n.*1290T>A) c.345T>A | |
12 | g.111803866T>C | CA386748055 | ALDH2 | c.1414T>C (p.Cys472Arg) c.1273T>C (p.Cys425Arg) c.*1290T>C (n.*1290T>C) c.345T>C | |
12 | g.111803866T>G | CA386748056 | ALDH2 | c.1414T>G (p.Cys472Gly) c.1273T>G (p.Cys425Gly) c.*1290T>G (n.*1290T>G) c.345T>G | |
12 | g.111803867G>A | CA386748059 | ALDH2 | c.1415G>A (p.Cys472Tyr) c.1274G>A (p.Cys425Tyr) c.*1291G>A (n.*1291G>A) c.346G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.111803867G>C | CA386748061 | ALDH2 | c.1415G>C (p.Cys472Ser) c.1274G>C (p.Cys425Ser) c.*1291G>C (n.*1291G>C) c.346G>C | |
12 | g.111803867G= | CA2063461269 | ALDH2 | c.1415G= (p.Cys472=) c.1274G= (p.Cys425=) c.*1291G= (n.*1291G=) c.346G= | |
12 | g.111803867G>T | CA386748062 | ALDH2 | c.1415G>T (p.Cys472Phe) c.1274G>T (p.Cys425Phe) c.*1291G>T (n.*1291G>T) c.346G>T | |
12 | g.111803868C>A | CA386748065 | ALDH2 | c.1416C>A (p.Cys472Ter) c.1275C>A (p.Cys425Ter) c.*1292C>A (n.*1292C>A) c.347C>A | |
12 | g.111803868C>G | CA386748067 | ALDH2 | c.1416C>G (p.Cys472Trp) c.1275C>G (p.Cys425Trp) c.*1292C>G (n.*1292C>G) c.347C>G | |
12 | g.111803868C>T | CA481775790 | ALDH2 | c.1416C>T (p.Cys472=) c.1275C>T (p.Cys425=) c.*1292C>T (n.*1292C>T) c.347C>T | |
12 | g.111803869T>A | CA386748069 | ALDH2 | c.1417T>A (p.Tyr473Asn) c.1276T>A (p.Tyr426Asn) c.*1293T>A (n.*1293T>A) c.348T>A | |
12 | g.111803869T>C | CA386748071 | ALDH2 | c.1417T>C (p.Tyr473His) c.1276T>C (p.Tyr426His) c.*1293T>C (n.*1293T>C) c.348T>C | |
12 | g.111803869T>G | CA386748068 | ALDH2 | c.1417T>G (p.Tyr473Asp) c.1276T>G (p.Tyr426Asp) c.*1293T>G (n.*1293T>G) c.348T>G | |
12 | g.111803870A>C | CA386748074 | ALDH2 | c.1418A>C (p.Tyr473Ser) c.1277A>C (p.Tyr426Ser) c.*1294A>C (n.*1294A>C) c.349A>C | |
12 | g.111803870A>G | CA386748075 | ALDH2 | c.1418A>G (p.Tyr473Cys) c.1277A>G (p.Tyr426Cys) c.*1294A>G (n.*1294A>G) c.349A>G | |
12 | g.111803870A>T | CA386748077 | ALDH2 | c.1418A>T (p.Tyr473Phe) c.1277A>T (p.Tyr426Phe) c.*1294A>T (n.*1294A>T) c.349A>T | |
12 | g.111803871T>A | CA386748080 | ALDH2 | c.1419T>A (p.Tyr473Ter) c.1278T>A (p.Tyr426Ter) c.*1295T>A (n.*1295T>A) c.350T>A | |
12 | g.111803871T>C | CA481775791 | ALDH2 | c.1419T>C (p.Tyr473=) c.1278T>C (p.Tyr426=) c.*1295T>C (n.*1295T>C) c.350T>C | gnomAD v4 |
12 | g.111803871T>G | CA386748081 | ALDH2 | c.1419T>G (p.Tyr473Ter) c.1278T>G (p.Tyr426Ter) c.*1295T>G (n.*1295T>G) c.350T>G | |
12 | g.111803872G>A | CA386748084 | ALDH2 | c.1420G>A (p.Asp474Asn) c.1279G>A (p.Asp427Asn) c.*1296G>A (n.*1296G>A) c.351G>A | dbSNP gnomAD v2 |
12 | g.111803872G>C | CA386748086 | ALDH2 | c.1420G>C (p.Asp474His) c.1279G>C (p.Asp427His) c.*1296G>C (n.*1296G>C) c.351G>C | |
12 | g.111803872G= | CA2063461274 | ALDH2 | c.1420G= (p.Asp474=) c.1279G= (p.Asp427=) c.*1296G= (n.*1296G=) c.351G= | |
12 | g.111803872G>T | CA386748088 | ALDH2 | c.1420G>T (p.Asp474Tyr) c.1279G>T (p.Asp427Tyr) c.*1296G>T (n.*1296G>T) c.351G>T | |
12 | g.111803873A= | CA2063461282 | ALDH2 | c.1421A= (p.Asp474=) c.1280A= (p.Asp427=) c.*1297A= (n.*1297A=) c.352A= | |
12 | g.111803873A>C | CA386748090 | ALDH2 | c.1421A>C (p.Asp474Ala) c.1280A>C (p.Asp427Ala) c.*1297A>C (n.*1297A>C) c.352A>C | |
12 | g.111803873A>G | CA386748092 | ALDH2 | c.1421A>G (p.Asp474Gly) c.1280A>G (p.Asp427Gly) c.*1297A>G (n.*1297A>G) c.352A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.111803873A>T | CA386748094 | ALDH2 | c.1421A>T (p.Asp474Val) c.1280A>T (p.Asp427Val) c.*1297A>T (n.*1297A>T) c.352A>T | |
12 | g.111803874T>A | CA386748096 | ALDH2 | c.1422T>A (p.Asp474Glu) c.1281T>A (p.Asp427Glu) c.*1298T>A (n.*1298T>A) c.353T>A | |
12 | g.111803874T>C | CA481775792 | ALDH2 | c.1422T>C (p.Asp474=) c.1281T>C (p.Asp427=) c.*1298T>C (n.*1298T>C) c.353T>C | |
12 | g.111803874T>G | CA386748097 | ALDH2 | c.1422T>G (p.Asp474Glu) c.1281T>G (p.Asp427Glu) c.*1298T>G (n.*1298T>G) c.353T>G | |
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 |