| 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 |
| 3 | g.45491566C= | CA1361697640 | LARS2,LARS2-AS1 | c.1289C= (p.Ala430=) c.*1157C= (n.*1157C=) c.1160C= (p.Ala387=) n.517+3678G= | dbSNP |