Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154861758C>A | CA340964 | F8 | c.6683G>T (p.Arg2228Leu) c.416G>T (p.Arg139Leu) c.278G>T (p.Arg93Leu) c.6578G>T (p.Arg2193Leu) | ClinVar dbSNP |
X | g.154861758C>T | CA255016 | F8 | c.6683G>A (p.Arg2228Gln) c.416G>A (p.Arg139Gln) c.278G>A (p.Arg93Gln) c.6578G>A (p.Arg2193Gln) | ClinVar dbSNP |