| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956451G>T | CA349198 | NEFL | c.65C>A (p.Pro22His) n.271C>A | ClinVar dbSNP |
| 8 | g.24956451G>A | CA370624142 | NEFL | c.65C>T (p.Pro22Leu) n.271C>T | ClinVar dbSNP |
| 8 | g.24956451G>C | CA217570 | NEFL | c.65C>G (p.Pro22Arg) n.271C>G | ClinVar dbSNP |
| 8 | g.24956451G= | CA1771621584 | NEFL | c.65C= (p.Pro22=) n.271C= | dbSNP |