| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117542101G>T | CA4450921 | CFTR | c.1202G>T (p.Trp401Leu) c.*1099G>T (n.*1099G>T) c.*1026G>T (n.*1026G>T) c.959G>T (p.Trp320Leu) c.1112G>T (p.Trp371Leu) c.1292G>T (p.Trp431Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117542101G>A | CA328081 | CFTR | c.1202G>A (p.Trp401Ter) c.*1099G>A (n.*1099G>A) c.*1026G>A (n.*1026G>A) c.959G>A (p.Trp320Ter) c.1112G>A (p.Trp371Ter) c.1292G>A (p.Trp431Ter) | ClinVar dbSNP gnomAD v4 |