| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24955888C>A | CA259657 | NEFL | c.628G>T (p.Glu210Ter) n.834G>T c.592+36G>T (n.592+36G>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.24955888C>G | CA370621989 | NEFL | c.628G>C (p.Glu210Gln) n.834G>C c.592+36G>C (n.592+36G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24955888C= | CA1771658300 | NEFL | c.628G= (p.Glu210=) n.834G= c.592+36G= (n.592+36G=) | dbSNP |
| 8 | g.24955888C>T | CA370621990 | NEFL | c.628G>A (p.Glu210Lys) n.834G>A c.592+36G>A (n.592+36G>A) | dbSNP gnomAD v4 |