| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24955521T>G | CA217588 | NEFL | c.995A>C (p.Gln332Pro) n.1201A>C c.716A>C (p.Gln239Pro) | ClinVar dbSNP |
| 8 | g.24955521T>A | CA370621170 | NEFL | c.995A>T (p.Gln332Leu) n.1201A>T c.716A>T (p.Gln239Leu) | dbSNP |
| 8 | g.24955521T= | CA1771657242 | NEFL | c.995A= (p.Gln332=) n.1201A= c.716A= (p.Gln239=) | dbSNP |