| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154966522G>T | CA255093 | F8 | c.1175C>A (p.Ser392Ter) c.*1051C>A (n.*1051C>A) c.1070C>A (p.Ser357Ter) | ClinVar dbSNP |
| X | g.154966522G>A | CA255095 | F8 | c.1175C>T (p.Ser392Leu) c.*1051C>T (n.*1051C>T) c.1070C>T (p.Ser357Leu) | ClinVar dbSNP |
| X | g.154966522G= | CA2466848115 | F8 | c.1175C= (p.Ser392=) c.*1051C= (n.*1051C=) c.1070C= (p.Ser357=) | dbSNP |