| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173857592C>T | CA259925 | DARS2 | c.*1404C>T (n.*1404C>T) c.1762C>T (p.Arg588Trp) c.*1515C>T (n.*1515C>T) c.*969C>T (n.*969C>T) c.*2291C>T (n.*2291C>T) c.1672C>T (p.Arg558Trp) c.1342C>T (p.Arg448Trp) c.*828C>T (n.*828C>T) c.1825C>T (p.Arg609Trp) n.647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173857592C= | CA1143432446 | DARS2 | c.*1404C= (n.*1404C=) c.1762C= (p.Arg588=) c.*1515C= (n.*1515C=) c.*969C= (n.*969C=) c.*2291C= (n.*2291C=) c.1672C= (p.Arg558=) c.1342C= (p.Arg448=) c.*828C= (n.*828C=) c.1825C= (p.Arg609=) n.647C= | dbSNP |