| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.139561820C>G | CA414446108 | F9 | c.1135C>G (p.Arg379Gly) n.1723+79C>G c.1021C>G (p.Arg341Gly) c.1006C>G (p.Arg336Gly) | dbSNP gnomAD v2 |
| X | g.139561820C>A | CA518917075 | F9 | c.1135C>A (p.Arg379=) n.1723+79C>A c.1021C>A (p.Arg341=) c.1006C>A (p.Arg336=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.139561820C>T | CA255391 | F9 | c.1135C>T (p.Arg379Ter) n.1723+79C>T c.1021C>T (p.Arg341Ter) c.1006C>T (p.Arg336Ter) | ClinVar dbSNP |