| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173857644T>A | CA251685 | DARS2 | c.*1456T>A (n.*1456T>A) c.1814T>A (p.Leu605Gln) c.*1567T>A (n.*1567T>A) c.*1021T>A (n.*1021T>A) c.*2343T>A (n.*2343T>A) c.1724T>A (p.Leu575Gln) c.1394T>A (p.Leu465Gln) c.*880T>A (n.*880T>A) c.1877T>A (p.Leu626Gln) n.699T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173857644T= | CA1141581214 | DARS2 | c.*1456T= (n.*1456T=) c.1814T= (p.Leu605=) c.*1567T= (n.*1567T=) c.*1021T= (n.*1021T=) c.*2343T= (n.*2343T=) c.1724T= (p.Leu575=) c.1394T= (p.Leu465=) c.*880T= (n.*880T=) c.1877T= (p.Leu626=) n.699T= | dbSNP |