| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154961131A>C | CA414912795 | F8 | c.1481T>G (p.Ile494Ser) c.*1357T>G (n.*1357T>G) c.1376T>G (p.Ile459Ser) | ClinVar dbSNP |
| X | g.154961131A>G | CA255108 | F8 | c.1481T>C (p.Ile494Thr) c.*1357T>C (n.*1357T>C) c.1376T>C (p.Ile459Thr) | ClinVar dbSNP |
| X | g.154961131A= | CA2466846496 | F8 | c.1481T= (p.Ile494=) c.*1357T= (n.*1357T=) c.1376T= (p.Ile459=) | dbSNP |