| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186287800G>A | CA199064 | F11,F11-AS1 | c.1693G>A (p.Glu565Lys) c.293G>A c.1531G>A (p.Glu511Lys) n.212G>A n.1066+628C>T c.1696G>A (p.Glu566Lys) c.1600G>A (p.Glu534Lys) c.1426G>A (p.Glu476Lys) c.1648G>A (p.Glu550Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186287800G= | CA1519939444 | F11,F11-AS1 | c.1693G= (p.Glu565=) c.293G= c.1531G= (p.Glu511=) n.212G= n.1066+628C= c.1696G= (p.Glu566=) c.1600G= (p.Glu534=) c.1426G= (p.Glu476=) c.1648G= (p.Glu550=) | dbSNP |