Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154997050A>C | CA414920034 | F8 | c.311T>G (p.Val104Gly) c.*97T>G (n.*97T>G) c.206T>G (p.Val69Gly) c.293T>G (p.Val98Gly) | dbSNP |
X | g.154997050A>T | CA255055 | F8 | c.311T>A (p.Val104Asp) c.*97T>A (n.*97T>A) c.206T>A (p.Val69Asp) c.293T>A (p.Val98Asp) | ClinVar dbSNP |