| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154957061G>C | CA255114 | F8 | c.1648C>G (p.Arg550Gly) c.*1524C>G (n.*1524C>G) c.1543C>G (p.Arg515Gly) | ClinVar dbSNP |
| X | g.154957061G>A | CA255113 | F8 | c.1648C>T (p.Arg550Cys) c.*1524C>T (n.*1524C>T) c.1543C>T (p.Arg515Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154957061G= | CA2466845345 | F8 | c.1648C= (p.Arg550=) c.*1524C= (n.*1524C=) c.1543C= (p.Arg515=) | dbSNP |