| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186288525G>A | CA219130 | F11,F11-AS1 | c.1789G>A (p.Glu597Lys) c.389G>A c.1627G>A (p.Glu543Lys) n.308G>A n.969C>T c.1792G>A (p.Glu598Lys) c.1696G>A (p.Glu566Lys) c.1522G>A (p.Glu508Lys) c.1744G>A (p.Glu582Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186288525G>T | CA16040952 | F11,F11-AS1 | c.1789G>T (p.Glu597Ter) c.389G>T c.1627G>T (p.Glu543Ter) n.308G>T n.969C>A c.1792G>T (p.Glu598Ter) c.1696G>T (p.Glu566Ter) c.1522G>T (p.Glu508Ter) c.1744G>T (p.Glu582Ter) | ClinVar dbSNP gnomAD v4 |