| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956223T>C | CA217547 | NEFL | c.293A>G (p.Asn98Ser) n.499A>G | ClinVar dbSNP |
| 8 | g.24956223T= | CA1771659476 | NEFL | c.293A= (p.Asn98=) n.499A= | dbSNP |
| 8 | g.24956223T>A | CA370622891 | NEFL | c.293A>T (p.Asn98Ile) n.499A>T | dbSNP |