| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154837686G>C | CA414897249 | F8 | c.6967C>G (p.Arg2323Gly) c.700C>G (p.Arg234Gly) c.562C>G (p.Arg188Gly) c.6862C>G (p.Arg2288Gly) | ClinVar dbSNP |
| X | g.154837686G>A | CA255225 | F8 | c.6967C>T (p.Arg2323Cys) c.700C>T (p.Arg234Cys) c.562C>T (p.Arg188Cys) c.6862C>T (p.Arg2288Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |