Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.125057584G>A | CA16042608 | WASHC5 | c.1847C>T (p.Ser616Phe) c.1403C>T (p.Ser468Phe) | ClinVar dbSNP |
8 | g.125057584G>C | CA372191292 | WASHC5 | c.1847C>G (p.Ser616Cys) c.1403C>G (p.Ser468Cys) | dbSNP gnomAD v2 |