| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535348T>G | CA327623 | CFTR | c.680T>G (p.Leu227Arg) c.*577T>G (n.*577T>G) c.*504T>G (n.*504T>G) c.437T>G (p.Leu146Arg) c.590T>G (p.Leu197Arg) c.770T>G (p.Leu257Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535348T>A | CA368977034 | CFTR | c.680T>A (p.Leu227His) c.*577T>A (n.*577T>A) c.*504T>A (n.*504T>A) c.437T>A (p.Leu146His) c.590T>A (p.Leu197His) c.770T>A (p.Leu257His) | dbSNP gnomAD v4 |
| 7 | g.117535348T>C | CA368977035 | CFTR | c.680T>C (p.Leu227Pro) c.*577T>C (n.*577T>C) c.*504T>C (n.*504T>C) c.437T>C (p.Leu146Pro) c.590T>C (p.Leu197Pro) c.770T>C (p.Leu257Pro) | dbSNP gnomAD v4 |
| 7 | g.117535348T= | CA1737362173 | CFTR | c.680T= (p.Leu227=) c.*577T= (n.*577T=) c.*504T= (n.*504T=) c.437T= (p.Leu146=) c.590T= (p.Leu197=) c.770T= (p.Leu257=) | dbSNP |