| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611640G>A | CA221024 | CFTR | c.3199G>A (p.Ala1067Thr) c.*2913G>A (n.*2913G>A) c.3016G>A (p.Ala1006Thr) c.*1499G>A (n.*1499G>A) c.*3023G>A (n.*3023G>A) c.2773G>A (p.Ala925Thr) c.790G>A (p.Ala264Thr) c.849G>A c.1981G>A (p.Ala661Thr) c.3109G>A (p.Ala1037Thr) c.24G>A c.3289G>A (p.Ala1097Thr) c.2956G>A (p.Ala986Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611640G>C | CA327088 | CFTR | c.3199G>C (p.Ala1067Pro) c.*2913G>C (n.*2913G>C) c.3016G>C (p.Ala1006Pro) c.*1499G>C (n.*1499G>C) c.*3023G>C (n.*3023G>C) c.2773G>C (p.Ala925Pro) c.790G>C (p.Ala264Pro) c.849G>C c.1981G>C (p.Ala661Pro) c.3109G>C (p.Ala1037Pro) c.24G>C c.3289G>C (p.Ala1097Pro) c.2956G>C (p.Ala986Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |