| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45496316C>A | CA143979 | LARS2,LARS2-AS1 | c.1565C>A (p.Thr522Asn) c.*1433C>A (n.*1433C>A) c.1436C>A (p.Thr479Asn) n.261-816G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45496316C= | CA1361699562 | LARS2,LARS2-AS1 | c.1565C= (p.Thr522=) c.*1433C= (n.*1433C=) c.1436C= (p.Thr479=) n.261-816G= | dbSNP |