| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117614655T>C | CA4451456 | CFTR | c.3410T>C (p.Met1137Thr) c.*3124T>C (n.*3124T>C) c.3227T>C (p.Met1076Thr) c.*1785T>C (n.*1785T>C) c.3404T>C (p.Met1135Thr) c.*3234T>C (n.*3234T>C) c.2984T>C (p.Met995Thr) c.158T>C (p.Met53Thr) c.1001T>C (p.Met334Thr) c.1060T>C c.2192T>C (p.Met731Thr) c.3320T>C (p.Met1107Thr) c.235T>C c.3500T>C (p.Met1167Thr) c.3167T>C (p.Met1056Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117614655T>G | CA327172 | CFTR | c.3410T>G (p.Met1137Arg) c.*3124T>G (n.*3124T>G) c.3227T>G (p.Met1076Arg) c.*1785T>G (n.*1785T>G) c.3404T>G (p.Met1135Arg) c.*3234T>G (n.*3234T>G) c.2984T>G (p.Met995Arg) c.158T>G (p.Met53Arg) c.1001T>G (p.Met334Arg) c.1060T>G c.2192T>G (p.Met731Arg) c.3320T>G (p.Met1107Arg) c.235T>G c.3500T>G (p.Met1167Arg) c.3167T>G (p.Met1056Arg) | ClinVar dbSNP |