| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117548795C>T | CA4450977 | CFTR,CFTR-AS1 | c.1364C>T (p.Ala455Val) c.*1106+6687C>T (n.*1106+6687C>T) c.1209+6687C>T (n.1209+6687C>T) c.*1188C>T (n.*1188C>T) c.966+6687C>T (n.966+6687C>T) c.1274C>T (p.Ala425Val) c.1454C>T (p.Ala485Val) c.1121C>T (p.Ala374Val) n.222-6256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117548795C>A | CA340631 | CFTR,CFTR-AS1 | c.1364C>A (p.Ala455Glu) c.*1106+6687C>A (n.*1106+6687C>A) c.1209+6687C>A (n.1209+6687C>A) c.*1188C>A (n.*1188C>A) c.966+6687C>A (n.966+6687C>A) c.1274C>A (p.Ala425Glu) c.1454C>A (p.Ala485Glu) c.1121C>A (p.Ala374Glu) n.222-6256G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |