Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.118658994G>A | CA6307794 | TREH | c.1456C>T (p.Arg486Trp) c.1363C>T (p.Arg455Trp) c.*1233C>T (n.*1233C>T) c.1033C>T (p.Arg345Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.118658994G>C | CA382842128 | TREH | c.1456C>G (p.Arg486Gly) c.1363C>G (p.Arg455Gly) c.*1233C>G (n.*1233C>G) c.1033C>G (p.Arg345Gly) | dbSNP |