| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.146124014C>T | CA361610017 | LARS1 | c.3064G>A (p.Glu1022Lys) n.3494G>A n.5946G>A c.2683G>A (p.Glu895Lys) c.*1502G>A (n.*1502G>A) c.2902G>A (p.Glu968Lys) c.1311G>A c.2608G>A (p.Glu870Lys) n.5851G>A c.2926G>A (p.Glu976Lys) c.2899G>A (p.Glu967Lys) c.3028G>A (p.Glu1010Lys) c.*420G>A (n.*420G>A) n.5717G>A c.3061G>A (p.Glu1021Lys) c.2983G>A (p.Glu995Lys) c.*986G>A (n.*986G>A) n.3332G>A n.4101G>A c.991G>A (p.Glu331Lys) n.3045G>A n.598G>A c.2851G>A (p.Glu951Lys) | dbSNP |
| 5 | g.146124014C>G | CA16604868 | LARS1 | c.3064G>C (p.Glu1022Gln) n.3494G>C n.5946G>C c.2683G>C (p.Glu895Gln) c.*1502G>C (n.*1502G>C) c.2902G>C (p.Glu968Gln) c.1311G>C c.2608G>C (p.Glu870Gln) n.5851G>C c.2926G>C (p.Glu976Gln) c.2899G>C (p.Glu967Gln) c.3028G>C (p.Glu1010Gln) c.*420G>C (n.*420G>C) n.5717G>C c.3061G>C (p.Glu1021Gln) c.2983G>C (p.Glu995Gln) c.*986G>C (n.*986G>C) n.3332G>C n.4101G>C c.991G>C (p.Glu331Gln) n.3045G>C n.598G>C c.2851G>C (p.Glu951Gln) | ClinVar dbSNP |