| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154999548dup | CA873358627 | F8 | c.200dup (p.Thr68AspfsTer15) c.178dup (p.Arg60LysfsTer?) c.95dup (p.Thr33AspfsTer15) c.182dup (p.Thr62AspfsTer15) | dbSNP gnomAD v4 |
| X | g.154999547_154999548del | CA255049 | F8 | c.199_200del (p.Lys67AspfsTer15) c.177_178del (p.Arg60ThrfsTer?) c.94_95del (p.Lys32AspfsTer15) c.181_182del (p.Lys61AspfsTer15) | ClinVar dbSNP |