Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.72021201C>T | CA126903 | DHODH | c.595C>T (p.Arg199Cys) n.1485-1964C>T n.512C>T n.314-1964C>T c.514-2944C>T c.511C>T (p.Arg171Cys) c.187C>T (p.Arg63Cys) c.166C>T (p.Arg56Cys) c.268C>T (p.Arg90Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.72021201C>A | CA396683028 | DHODH | c.595C>A (p.Arg199Ser) n.1485-1964C>A n.512C>A n.314-1964C>A c.514-2944C>A c.511C>A (p.Arg171Ser) c.187C>A (p.Arg63Ser) c.166C>A (p.Arg56Ser) c.268C>A (p.Arg90Ser) | dbSNP gnomAD v2 gnomAD v4 |