| 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 |
