| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235793567G>T | CA344960742 | LYST | c.4052C>A (p.Ser1351Ter) c.3455C>A (p.Ser1152Ter) n.4603C>A c.1715C>A (p.Ser572Ter) n.4234C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.235793567G>C | CA344848 | LYST | c.4052C>G (p.Ser1351Ter) c.3455C>G (p.Ser1152Ter) n.4603C>G c.1715C>G (p.Ser572Ter) n.4234C>G | ClinVar dbSNP |
| 1 | g.235793567G>A | CA344960743 | LYST | c.4052C>T (p.Ser1351Leu) c.3455C>T (p.Ser1152Leu) n.4603C>T c.1715C>T (p.Ser572Leu) n.4234C>T | dbSNP gnomAD v2 |