| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24952575T>G | CA460019721 | NEFL | c.*235A>C (n.*235A>C) c.*732A>C (n.*732A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24952575T>A | CA10625252 | NEFL | c.*235A>T (n.*235A>T) c.*732A>T (n.*732A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24952575T= | CA1771650882 | NEFL | c.*235A= (n.*235A=) c.*732A= (n.*732A=) | dbSNP |