| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154993044G>A | CA255065 | F8 | c.493C>T (p.Pro165Ser) c.*279C>T (n.*279C>T) c.388C>T (p.Pro130Ser) c.475C>T (p.Pro159Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.154993044G= | CA2466856534 | F8 | c.493C= (p.Pro165=) c.*279C= (n.*279C=) c.388C= (p.Pro130=) c.475C= (p.Pro159=) | dbSNP |