| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956493G>T | CA217534 | NEFL | c.23C>A (p.Pro8Gln) n.229C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.24956493G>A | CA217537 | NEFL | c.23C>T (p.Pro8Leu) n.229C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.24956493G>C | CA217536 | NEFL | c.23C>G (p.Pro8Arg) n.229C>G | ClinVar dbSNP |
| 8 | g.24956493G= | CA1771621771 | NEFL | c.23C= (p.Pro8=) n.229C= | dbSNP |