| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105560_11105562del | CA023734 | LDLR | c.912_914del (p.Gly305del) c.654_656del (p.Gly219del) c.908_910del c.314-1832_314-1830del (n.314-1832_314-1830del) c.531_533del (p.Gly178del) c.314-1005_314-1003del (n.314-1005_314-1003del) c.254_256del n.804_806del n.771_773del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105560_11105562dup | CA2582473158 | LDLR | c.912_914dup (p.Gly305_Pro306insGly) c.654_656dup (p.Gly219_Pro220insGly) c.908_910dup c.314-1832_314-1830dup (n.314-1832_314-1830dup) c.531_533dup (p.Gly178_Pro179insGly) c.314-1005_314-1003dup (n.314-1005_314-1003dup) c.254_256dup n.804_806dup n.771_773dup | dbSNP gnomAD v4 |