| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24953646G>C | CA370620192 | NEFL | c.1319C>G (p.Pro440Arg) c.*184C>G (n.*184C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24953646G>A | CA233076 | NEFL | c.1319C>T (p.Pro440Leu) c.*184C>T (n.*184C>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.24953646G= | CA1771653423 | NEFL | c.1319C= (p.Pro440=) c.*184C= (n.*184C=) | dbSNP |