| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540270G>A | CA340652 | CFTR | c.1040G>A (p.Arg347His) c.*937G>A (n.*937G>A) c.*864G>A (n.*864G>A) c.797G>A (p.Arg266His) c.950G>A (p.Arg317His) c.1130G>A (p.Arg377His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540270G>C | CA340630 | CFTR | c.1040G>C (p.Arg347Pro) c.*937G>C (n.*937G>C) c.*864G>C (n.*864G>C) c.797G>C (p.Arg266Pro) c.950G>C (p.Arg317Pro) c.1130G>C (p.Arg377Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540270G>T | CA325561 | CFTR | c.1040G>T (p.Arg347Leu) c.*937G>T (n.*937G>T) c.*864G>T (n.*864G>T) c.797G>T (p.Arg266Leu) c.950G>T (p.Arg317Leu) c.1130G>T (p.Arg377Leu) | ClinVar dbSNP |