| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133570501G>A | CA339828 | ADAMTSL2 | c.2586G>A (p.Trp862Ter) c.2913G>A (p.Trp971Ter) c.2616G>A (p.Trp872Ter) c.2469G>A (p.Trp823Ter) c.2652G>A (p.Trp884Ter) c.2796G>A (p.Trp932Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133570501G= | CA1882725543 | ADAMTSL2 | c.2586G= (p.Trp862=) c.2913G= (p.Trp971=) c.2616G= (p.Trp872=) c.2469G= (p.Trp823=) c.2652G= (p.Trp884=) c.2796G= (p.Trp932=) | dbSNP |