| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154837676C>T | CA255027 | F8 | c.6977G>A (p.Arg2326Gln) c.710G>A (p.Arg237Gln) c.572G>A (p.Arg191Gln) c.6872G>A (p.Arg2291Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837676C>G | CA414897157 | F8 | c.6977G>C (p.Arg2326Pro) c.710G>C (p.Arg237Pro) c.572G>C (p.Arg191Pro) c.6872G>C (p.Arg2291Pro) | dbSNP |
| X | g.154837676C>A | CA255018 | F8 | c.6977G>T (p.Arg2326Leu) c.710G>T (p.Arg237Leu) c.572G>T (p.Arg191Leu) c.6872G>T (p.Arg2291Leu) | ClinVar dbSNP |