| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.155022432C>T | CA10568644 | F8 | c.121G>A (p.Gly41Ser) c.121G>A (p.Asp41Asn) c.38+4348G>A (n.38+4348G>A) c.103G>A (p.Gly35Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.155022432C>A | CA255048 | F8 | c.121G>T (p.Gly41Cys) c.121G>T (p.Asp41Tyr) c.38+4348G>T (n.38+4348G>T) c.103G>T (p.Gly35Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |