| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117610669G>T | CA10604591 | CFTR | c.3139G>T (p.Gly1047Cys) c.*2853G>T (n.*2853G>T) c.2956G>T (p.Gly986Cys) c.*1439G>T (n.*1439G>T) c.*2963G>T (n.*2963G>T) c.2713G>T (p.Gly905Cys) c.730G>T (p.Gly244Cys) c.789G>T c.1921G>T (p.Gly641Cys) c.3049G>T (p.Gly1017Cys) c.3229G>T (p.Gly1077Cys) c.2896G>T (p.Gly966Cys) | ClinVar dbSNP |
| 7 | g.117610669G>C | CA327056 | CFTR | c.3139G>C (p.Gly1047Arg) c.*2853G>C (n.*2853G>C) c.2956G>C (p.Gly986Arg) c.*1439G>C (n.*1439G>C) c.*2963G>C (n.*2963G>C) c.2713G>C (p.Gly905Arg) c.730G>C (p.Gly244Arg) c.789G>C c.1921G>C (p.Gly641Arg) c.3049G>C (p.Gly1017Arg) c.3229G>C (p.Gly1077Arg) c.2896G>C (p.Gly966Arg) | ClinVar dbSNP |
| 7 | g.117610669G>A | CA368990865 | CFTR | c.3139G>A (p.Gly1047Ser) c.*2853G>A (n.*2853G>A) c.2956G>A (p.Gly986Ser) c.*1439G>A (n.*1439G>A) c.*2963G>A (n.*2963G>A) c.2713G>A (p.Gly905Ser) c.730G>A (p.Gly244Ser) c.789G>A c.1921G>A (p.Gly641Ser) c.3049G>A (p.Gly1017Ser) c.3229G>A (p.Gly1077Ser) c.2896G>A (p.Gly966Ser) | ClinVar dbSNP |
| 7 | g.117610669G= | CA1737385293 | CFTR | c.3139G= (p.Gly1047=) c.*2853G= (n.*2853G=) c.2956G= (p.Gly986=) c.*1439G= (n.*1439G=) c.*2963G= (n.*2963G=) c.2713G= (p.Gly905=) c.730G= (p.Gly244=) c.789G= c.1921G= (p.Gly641=) c.3049G= (p.Gly1017=) c.3229G= (p.Gly1077=) c.2896G= (p.Gly966=) | dbSNP |