| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154993141T>G | CA255060 | F8 | c.396A>C (p.Glu132Asp) c.*182A>C (n.*182A>C) c.291A>C (p.Glu97Asp) c.378A>C (p.Glu126Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154993141T= | CA2466856575 | F8 | c.396A= (p.Glu132=) c.*182A= (n.*182A=) c.291A= (p.Glu97=) c.378A= (p.Glu126=) | dbSNP |