Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.45491566C>T | CA10584653 | LARS2,LARS2-AS1 | c.1289C>T (p.Ala430Val) c.*1157C>T (n.*1157C>T) c.1160C>T (p.Ala387Val) n.517+3678G>A | ClinVar dbSNP |
3 | g.45491566C>G | CA352425656 | LARS2,LARS2-AS1 | c.1289C>G (p.Ala430Gly) c.*1157C>G (n.*1157C>G) c.1160C>G (p.Ala387Gly) n.517+3678G>C | dbSNP gnomAD v3 gnomAD v4 |