| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169542689G>A | CA251553 | F5 | c.2401C>T (p.Gln801Ter) c.2416C>T (p.Gln806Ter) c.1990C>T (p.Gln664Ter) | ClinVar dbSNP |
| 1 | g.169542689G>T | CA343121150 | F5 | c.2401C>A (p.Gln801Lys) c.2416C>A (p.Gln806Lys) c.1990C>A (p.Gln664Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169542689G= | CA1141580511 | F5 | c.2401C= (p.Gln801=) c.2416C= (p.Gln806=) c.1990C= (p.Gln664=) | dbSNP |