| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956070G>A | CA217555 | NEFL | c.446C>T (p.Ala149Val) n.652C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.24956070G= | CA1771658961 | NEFL | c.446C= (p.Ala149=) n.652C= | dbSNP |
| 8 | g.24956070G>T | CA370622368 | NEFL | c.446C>A (p.Ala149Glu) n.652C>A | dbSNP gnomAD v4 |