| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611735G>C | CA327132 | CFTR | c.3294G>C (p.Trp1098Cys) c.*3008G>C (n.*3008G>C) c.3111G>C (p.Trp1037Cys) c.*1594G>C (n.*1594G>C) c.*3118G>C (n.*3118G>C) c.2868G>C (p.Trp956Cys) c.42G>C (p.Trp14Cys) c.885G>C (p.Trp295Cys) c.944G>C c.2076G>C (p.Trp692Cys) c.3204G>C (p.Trp1068Cys) c.119G>C c.3384G>C (p.Trp1128Cys) c.3051G>C (p.Trp1017Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611735G>T | CA368992416 | CFTR | c.3294G>T (p.Trp1098Cys) c.*3008G>T (n.*3008G>T) c.3111G>T (p.Trp1037Cys) c.*1594G>T (n.*1594G>T) c.*3118G>T (n.*3118G>T) c.2868G>T (p.Trp956Cys) c.42G>T (p.Trp14Cys) c.885G>T (p.Trp295Cys) c.944G>T c.2076G>T (p.Trp692Cys) c.3204G>T (p.Trp1068Cys) c.119G>T c.3384G>T (p.Trp1128Cys) c.3051G>T (p.Trp1017Cys) | ClinVar dbSNP |
| 7 | g.117611735G>A | CA276112 | CFTR | c.3294G>A (p.Trp1098Ter) c.*3008G>A (n.*3008G>A) c.3111G>A (p.Trp1037Ter) c.*1594G>A (n.*1594G>A) c.*3118G>A (n.*3118G>A) c.2868G>A (p.Trp956Ter) c.42G>A (p.Trp14Ter) c.885G>A (p.Trp295Ter) c.944G>A c.2076G>A (p.Trp692Ter) c.3204G>A (p.Trp1068Ter) c.119G>A c.3384G>A (p.Trp1128Ter) c.3051G>A (p.Trp1017Ter) | ClinVar dbSNP |
| 7 | g.117611735G= | CA1737387422 | CFTR | c.3294G= (p.Trp1098=) c.*3008G= (n.*3008G=) c.3111G= (p.Trp1037=) c.*1594G= (n.*1594G=) c.*3118G= (n.*3118G=) c.2868G= (p.Trp956=) c.42G= (p.Trp14=) c.885G= (p.Trp295=) c.944G= c.2076G= (p.Trp692=) c.3204G= (p.Trp1068=) c.119G= c.3384G= (p.Trp1128=) c.3051G= (p.Trp1017=) | dbSNP |