| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154993046C>T | CA414919598 | F8 | c.491G>A (p.Gly164Asp) c.*277G>A (n.*277G>A) c.386G>A (p.Gly129Asp) c.473G>A (p.Gly158Asp) | dbSNP gnomAD v2 |
| X | g.154993046C>A | CA255064 | F8 | c.491G>T (p.Gly164Val) c.*277G>T (n.*277G>T) c.386G>T (p.Gly129Val) c.473G>T (p.Gly158Val) | ClinVar dbSNP |
| X | g.154993046C= | CA2466856535 | F8 | c.491G= (p.Gly164=) c.*277G= (n.*277G=) c.386G= (p.Gly129=) c.473G= (p.Gly158=) | dbSNP |