| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117531068T>A | CA327489 | CFTR | c.443T>A (p.Ile148Asn) c.*340T>A (n.*340T>A) c.*267T>A (n.*267T>A) c.200T>A (p.Ile67Asn) c.533T>A (p.Ile178Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531068T>C | CA146708 | CFTR | c.443T>C (p.Ile148Thr) c.*340T>C (n.*340T>C) c.*267T>C (n.*267T>C) c.200T>C (p.Ile67Thr) c.533T>C (p.Ile178Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |