| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140695810C>G | CA343806 | HARS2 | c.598C>G (p.Leu200Val) c.376C>G (p.Leu126Val) c.388C>G (p.Leu130Val) c.*176C>G (n.*176C>G) c.564C>G c.616C>G (p.Leu206Val) c.181C>G (p.Leu61Val) c.523C>G (p.Leu175Val) c.*398C>G (n.*398C>G) n.605C>G c.166C>G (p.Leu56Val) c.-137C>G (n.-137C>G) | ClinVar dbSNP gnomAD v2 |
| 5 | g.140695810C= | CA1586866918 | HARS2 | c.598C= (p.Leu200=) c.376C= (p.Leu126=) c.388C= (p.Leu130=) c.*176C= (n.*176C=) c.564C= c.616C= (p.Leu206=) c.181C= (p.Leu61=) c.523C= (p.Leu175=) c.*398C= (n.*398C=) n.605C= c.166C= (p.Leu56=) c.-137C= (n.-137C=) | dbSNP |
| 5 | g.140695810C>T | CA446804420 | HARS2 | c.598C>T (p.Leu200=) c.376C>T (p.Leu126=) c.388C>T (p.Leu130=) c.*176C>T (n.*176C>T) c.564C>T c.616C>T (p.Leu206=) c.181C>T (p.Leu61=) c.523C>T (p.Leu175=) c.*398C>T (n.*398C>T) n.605C>T c.166C>T (p.Leu56=) c.-137C>T (n.-137C>T) | dbSNP gnomAD v4 |