| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154957060C>G | CA414911839 | F8 | c.1649G>C (p.Arg550Pro) c.*1525G>C (n.*1525G>C) c.1544G>C (p.Arg515Pro) | dbSNP |
| X | g.154957060C>A | CA414911838 | F8 | c.1649G>T (p.Arg550Leu) c.*1525G>T (n.*1525G>T) c.1544G>T (p.Arg515Leu) | dbSNP |
| X | g.154957060C>T | CA255115 | F8 | c.1649G>A (p.Arg550His) c.*1525G>A (n.*1525G>A) c.1544G>A (p.Arg515His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |