| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535315G>A | CA327612 | CFTR | c.647G>A (p.Trp216Ter) c.*544G>A (n.*544G>A) c.*471G>A (n.*471G>A) c.404G>A (p.Trp135Ter) c.557G>A (p.Trp186Ter) c.737G>A (p.Trp246Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535315G= | CA1737362145 | CFTR | c.647G= (p.Trp216=) c.*544G= (n.*544G=) c.*471G= (n.*471G=) c.404G= (p.Trp135=) c.557G= (p.Trp186=) c.737G= (p.Trp246=) | dbSNP |
| 7 | g.117535315G>C | CA368976946 | CFTR | c.647G>C (p.Trp216Ser) c.*544G>C (n.*544G>C) c.*471G>C (n.*471G>C) c.404G>C (p.Trp135Ser) c.557G>C (p.Trp186Ser) c.737G>C (p.Trp246Ser) | ClinVar dbSNP gnomAD v4 |