| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611695A>C | CA368992270 | CFTR | c.3254A>C (p.His1085Pro) c.*2968A>C (n.*2968A>C) c.3071A>C (p.His1024Pro) c.*1554A>C (n.*1554A>C) c.*3078A>C (n.*3078A>C) c.2828A>C (p.His943Pro) c.2A>C (p.His1Pro) c.845A>C (p.His282Pro) c.904A>C c.2036A>C (p.His679Pro) c.3164A>C (p.His1055Pro) c.79A>C c.3344A>C (p.His1115Pro) c.3011A>C (p.His1004Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611695A>G | CA325598 | CFTR | c.3254A>G (p.His1085Arg) c.*2968A>G (n.*2968A>G) c.3071A>G (p.His1024Arg) c.*1554A>G (n.*1554A>G) c.*3078A>G (n.*3078A>G) c.2828A>G (p.His943Arg) c.2A>G (p.His1Arg) c.845A>G (p.His282Arg) c.904A>G c.2036A>G (p.His679Arg) c.3164A>G (p.His1055Arg) c.79A>G c.3344A>G (p.His1115Arg) c.3011A>G (p.His1004Arg) | ClinVar dbSNP |