| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24953704G>A | CA274856 | NEFL | c.1261C>T (p.Arg421Ter) c.*126C>T (n.*126C>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.24953704G>T | CA4681306 | NEFL | c.1261C>A (p.Arg421=) c.*126C>A (n.*126C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24953704G= | CA1771653614 | NEFL | c.1261C= (p.Arg421=) c.*126C= (n.*126C=) | dbSNP |