Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154930646C>A | CA414898457 | F8 | c.3144G>T (p.Trp1048Cys) c.*2810G>T (n.*2810G>T) c.3039G>T (p.Trp1013Cys) | ClinVar dbSNP |
X | g.154930646C>T | CA16609557 | F8 | c.3144G>A (p.Trp1048Ter) c.*2810G>A (n.*2810G>A) c.3039G>A (p.Trp1013Ter) | ClinVar dbSNP |