| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123725955C>T | CA024823 | MYLK | c.1433G>A (p.Trp478Ter) c.1640G>A (p.Trp547Ter) n.1534G>A c.1670G>A (p.Trp557Ter) c.878G>A (p.Trp293Ter) c.*1219G>A (n.*1219G>A) n.2208G>A c.1112G>A (p.Trp371Ter) c.1463G>A (p.Trp488Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123725955C= | CA1398526257 | MYLK | c.1433G= (p.Trp478=) c.1640G= (p.Trp547=) n.1534G= c.1670G= (p.Trp557=) c.878G= (p.Trp293=) c.*1219G= (n.*1219G=) n.2208G= c.1112G= (p.Trp371=) c.1463G= (p.Trp488=) | dbSNP |