| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.150557296C>T | CA261178 | ADAMTSL4,ADAMTSL4-AS2 | c.2008C>T (p.Arg670Ter) c.2077C>T (p.Arg693Ter) c.1891C>T (p.Arg631Ter) c.622C>T (p.Arg208Ter) c.2176C>T (p.Arg726Ter) c.2107C>T (p.Arg703Ter) c.685C>T (p.Arg229Ter) n.2361C>T n.139+397G>A c.421C>T (p.Arg141Ter) n.2161C>T n.2334C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150557296C= | CA1143600764 | ADAMTSL4,ADAMTSL4-AS2 | c.2008C= (p.Arg670=) c.2077C= (p.Arg693=) c.1891C= (p.Arg631=) c.622C= (p.Arg208=) c.2176C= (p.Arg726=) c.2107C= (p.Arg703=) c.685C= (p.Arg229=) n.2361C= n.139+397G= c.421C= (p.Arg141=) n.2161C= n.2334C= | dbSNP |