| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154953983C>T | CA414910931 | F8 | c.1812G>A (p.Trp604Ter) c.*1688G>A (n.*1688G>A) c.1707G>A (p.Trp569Ter) | ClinVar dbSNP |
| X | g.154953983C>G | CA255127 | F8 | c.1812G>C (p.Trp604Cys) c.*1688G>C (n.*1688G>C) c.1707G>C (p.Trp569Cys) | ClinVar dbSNP |
| X | g.154953983C= | CA2466844348 | F8 | c.1812G= (p.Trp604=) c.*1688G= (n.*1688G=) c.1707G= (p.Trp569=) | dbSNP |