| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956222A>C | CA16042636 | NEFL | c.294T>G (p.Asn98Lys) n.500T>G | ClinVar dbSNP |
| 8 | g.24956222A>G | CA460183505 | NEFL | c.294T>C (p.Asn98=) n.500T>C | dbSNP gnomAD v2 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956222A>C | CA16042636 | NEFL | c.294T>G (p.Asn98Lys) n.500T>G | ClinVar dbSNP |
| 8 | g.24956222A>G | CA460183505 | NEFL | c.294T>C (p.Asn98=) n.500T>C | dbSNP gnomAD v2 gnomAD v4 |