| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137814479C>T | CA345061 | EHMT1 | c.3229C>T (p.Gln1077Ter) c.3136C>T (p.Gln1046Ter) c.3269C>T (n.3269C>T) n.20C>T c.1303C>T (n.1303C>T) c.2086C>T (p.Gln696Ter) n.89C>T n.755C>T c.3220C>T (p.Gln1074Ter) c.3211C>T (p.Gln1071Ter) c.3238C>T (p.Gln1080Ter) c.3235C>T (p.Gln1079Ter) c.3217C>T (p.Gln1073Ter) c.3160C>T (p.Gln1054Ter) c.3094C>T (p.Gln1032Ter) c.1660C>T (p.Gln554Ter) c.1012C>T (p.Gln338Ter) c.799C>T (p.Gln267Ter) c.3073C>T (p.Gln1025Ter) c.3208C>T (p.Gln1070Ter) c.3214C>T (p.Gln1072Ter) c.3130C>T (p.Gln1044Ter) c.3115C>T (p.Gln1039Ter) c.3058C>T (p.Gln1020Ter) c.2992C>T (p.Gln998Ter) c.2353C>T (p.Gln785Ter) c.2971C>T (p.Gln991Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137814479C= | CA1884686464 | EHMT1 | c.3229C= (p.Gln1077=) c.3136C= (p.Gln1046=) c.3269C= (n.3269C=) n.20C= c.1303C= (n.1303C=) c.2086C= (p.Gln696=) n.89C= n.755C= c.3220C= (p.Gln1074=) c.3211C= (p.Gln1071=) c.3238C= (p.Gln1080=) c.3235C= (p.Gln1079=) c.3217C= (p.Gln1073=) c.3160C= (p.Gln1054=) c.3094C= (p.Gln1032=) c.1660C= (p.Gln554=) c.1012C= (p.Gln338=) c.799C= (p.Gln267=) c.3073C= (p.Gln1025=) c.3208C= (p.Gln1070=) c.3214C= (p.Gln1072=) c.3130C= (p.Gln1044=) c.3115C= (p.Gln1039=) c.3058C= (p.Gln1020=) c.2992C= (p.Gln998=) c.2353C= (p.Gln785=) c.2971C= (p.Gln991=) | dbSNP |