Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154931407T>C | CA10568332 | F8 | c.2383A>G (p.Arg795Gly) c.*2049A>G (n.*2049A>G) c.2278A>G (p.Arg760Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154931407T>A | CA255140 | F8 | c.2383A>T (p.Arg795Ter) c.*2049A>T (n.*2049A>T) c.2278A>T (p.Arg760Ter) | ClinVar dbSNP |