| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24951554C>G | CA460016511 | NEFL | c.*1256G>C (n.*1256G>C) | dbSNP |
| 8 | g.24951554C>T | CA10625229 | NEFL | c.*1256G>A (n.*1256G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24951554C>G | CA460016511 | NEFL | c.*1256G>C (n.*1256G>C) | dbSNP |
| 8 | g.24951554C>T | CA10625229 | NEFL | c.*1256G>A (n.*1256G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |