| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24953779C>T | CA217487 | NEFL | c.1186G>A (p.Glu396Lys) c.*51G>A (n.*51G>A) | ClinVar dbSNP |
| 8 | g.24953779C>G | CA370620707 | NEFL | c.1186G>C (p.Glu396Gln) c.*51G>C (n.*51G>C) | dbSNP |
| 8 | g.24953779C= | CA1771654129 | NEFL | c.1186G= (p.Glu396=) c.*51G= (n.*51G=) | dbSNP |