| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956235A>G | CA217544 | NEFL | c.281T>C (p.Leu94Pro) n.487T>C | ClinVar dbSNP |
| 8 | g.24956235A>T | CA370622930 | NEFL | c.281T>A (p.Leu94His) n.487T>A | ClinVar dbSNP |
| 8 | g.24956235A= | CA1771659516 | NEFL | c.281T= (p.Leu94=) n.487T= | dbSNP |