| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235781018A>G | CA1466695 | LYST | c.*485T>C (n.*485T>C) c.5061T>C (p.Tyr1687=) n.5612T>C c.2724T>C (p.Tyr908=) n.5243T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235781018A>T | CA344859 | LYST | c.*485T>A (n.*485T>A) c.5061T>A (p.Tyr1687Ter) n.5612T>A c.2724T>A (p.Tyr908Ter) n.5243T>A | ClinVar dbSNP |