| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154957073G>T | CA519358660 | F8 | c.1636C>A (p.Arg546=) c.*1512C>A (n.*1512C>A) c.1531C>A (p.Arg511=) | dbSNP gnomAD v4 |
| X | g.154957073G>A | CA255112 | F8 | c.1636C>T (p.Arg546Trp) c.*1512C>T (n.*1512C>T) c.1531C>T (p.Arg511Trp) | ClinVar dbSNP gnomAD v4 |
| X | g.154957073G= | CA2466845351 | F8 | c.1636C= (p.Arg546=) c.*1512C= (n.*1512C=) c.1531C= (p.Arg511=) | dbSNP |