| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235733859C>T | CA344877 | LYST | c.4111G>A (n.4111G>A) c.678G>A (p.Trp226Ter) c.*4007G>A (n.*4007G>A) c.2292G>A (p.Trp764Ter) c.717G>A (p.Trp239Ter) c.3063G>A (p.Trp1021Ter) c.8583G>A (p.Trp2861Ter) n.3573G>A c.8745G>A (p.Trp2915Ter) c.8607G>A (p.Trp2869Ter) c.6408G>A (p.Trp2136Ter) n.9618G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.235733859C>A | CA344920669 | LYST | c.4111G>T (n.4111G>T) c.678G>T (p.Trp226Cys) c.*4007G>T (n.*4007G>T) c.2292G>T (p.Trp764Cys) c.717G>T (p.Trp239Cys) c.3063G>T (p.Trp1021Cys) c.8583G>T (p.Trp2861Cys) n.3573G>T c.8745G>T (p.Trp2915Cys) c.8607G>T (p.Trp2869Cys) c.6408G>T (p.Trp2136Cys) n.9618G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.235733859C= | CA1141188093 | LYST | c.4111G= (n.4111G=) c.678G= (p.Trp226=) c.*4007G= (n.*4007G=) c.2292G= (p.Trp764=) c.717G= (p.Trp239=) c.3063G= (p.Trp1021=) c.8583G= (p.Trp2861=) n.3573G= c.8745G= (p.Trp2915=) c.8607G= (p.Trp2869=) c.6408G= (p.Trp2136=) n.9618G= | dbSNP |