| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956029C>G | CA10577362 | NEFL | c.487G>C (p.Glu163Gln) n.693G>C | ClinVar dbSNP |
| 8 | g.24956029C>A | CA10654937 | NEFL | c.487G>T (p.Glu163Ter) n.693G>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.24956029C>T | CA370622277 | NEFL | c.487G>A (p.Glu163Lys) n.693G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |