| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603609C>T | CA325592 | CFTR | c.2735C>T (p.Ser912Leu) c.*2449C>T (n.*2449C>T) c.2552C>T (p.Ser851Leu) c.*1035C>T (n.*1035C>T) c.*2559C>T (n.*2559C>T) c.2309C>T (p.Ser770Leu) c.326C>T (p.Ser109Leu) c.385C>T c.1517C>T (p.Ser506Leu) c.2645C>T (p.Ser882Leu) c.2825C>T (p.Ser942Leu) c.2492C>T (p.Ser831Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117603609C>A | CA326900 | CFTR | c.2735C>A (p.Ser912Ter) c.*2449C>A (n.*2449C>A) c.2552C>A (p.Ser851Ter) c.*1035C>A (n.*1035C>A) c.*2559C>A (n.*2559C>A) c.2309C>A (p.Ser770Ter) c.326C>A (p.Ser109Ter) c.385C>A c.1517C>A (p.Ser506Ter) c.2645C>A (p.Ser882Ter) c.2825C>A (p.Ser942Ter) c.2492C>A (p.Ser831Ter) | ClinVar dbSNP |