Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154861759G>C | CA255216 | F8 | c.6682C>G (p.Arg2228Gly) c.415C>G (p.Arg139Gly) c.277C>G (p.Arg93Gly) c.6577C>G (p.Arg2193Gly) | ClinVar dbSNP |
X | g.154861759G>A | CA255009 | F8 | c.6682C>T (p.Arg2228Ter) c.415C>T (p.Arg139Ter) c.277C>T (p.Arg93Ter) c.6577C>T (p.Arg2193Ter) | ClinVar dbSNP |