| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154863124C>A | CA255207 | F8 | c.6533G>T (p.Arg2178Leu) c.266G>T (p.Arg89Leu) c.128G>T (p.Arg43Leu) c.6428G>T (p.Arg2143Leu) | ClinVar dbSNP |
| X | g.154863124C>T | CA255212 | F8 | c.6533G>A (p.Arg2178His) c.266G>A (p.Arg89His) c.128G>A (p.Arg43His) c.6428G>A (p.Arg2143His) | ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC |