| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.5693737T>C | CA185940 | LONP1 | c.2353A>G (p.Arg785Gly) c.1765A>G (p.Arg589Gly) c.2011A>G (p.Arg671Gly) n.2091A>G c.193A>G (p.Arg65Gly) c.2160A>G (n.2160A>G) c.1963A>G (p.Arg655Gly) c.2161A>G (p.Arg721Gly) n.2177A>G n.2158A>G | ClinVar dbSNP |
| 19 | g.5693737T= | CA2320059617 | LONP1 | c.2353A= (p.Arg785=) c.1765A= (p.Arg589=) c.2011A= (p.Arg671=) n.2091A= c.193A= (p.Arg65=) c.2160A= (n.2160A=) c.1963A= (p.Arg655=) c.2161A= (p.Arg721=) n.2177A= n.2158A= | dbSNP |