| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956452G>A | CA217568 | NEFL | c.64C>T (p.Pro22Ser) n.270C>T | ClinVar dbSNP |
| 8 | g.24956452G>C | CA370624145 | NEFL | c.64C>G (p.Pro22Ala) n.270C>G | ClinVar dbSNP |
| 8 | g.24956452G>T | CA217565 | NEFL | c.64C>A (p.Pro22Thr) n.270C>A | ClinVar dbSNP |
| 8 | g.24956452G= | CA1771621616 | NEFL | c.64C= (p.Pro22=) n.270C= | dbSNP |