| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611751G>T | CA328113 | CFTR | c.3310G>T (p.Glu1104Ter) c.*3024G>T (n.*3024G>T) c.3127G>T (p.Glu1043Ter) c.*1610G>T (n.*1610G>T) c.*3134G>T (n.*3134G>T) c.2884G>T (p.Glu962Ter) c.58G>T (p.Glu20Ter) c.901G>T (p.Glu301Ter) c.960G>T c.2092G>T (p.Glu698Ter) c.3220G>T (p.Glu1074Ter) c.135G>T c.3400G>T (p.Glu1134Ter) c.3067G>T (p.Glu1023Ter) | ClinVar dbSNP COSMIC |
| 7 | g.117611751G= | CA1737387511 | CFTR | c.3310G= (p.Glu1104=) c.*3024G= (n.*3024G=) c.3127G= (p.Glu1043=) c.*1610G= (n.*1610G=) c.*3134G= (n.*3134G=) c.2884G= (p.Glu962=) c.58G= (p.Glu20=) c.901G= (p.Glu301=) c.960G= c.2092G= (p.Glu698=) c.3220G= (p.Glu1074=) c.135G= c.3400G= (p.Glu1134=) c.3067G= (p.Glu1023=) | dbSNP |