| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592631G>A | CA326820 | CFTR | c.2464G>A (p.Glu822Lys) c.*2178G>A (n.*2178G>A) c.2281G>A (p.Glu761Lys) c.*764G>A (n.*764G>A) c.*2288G>A (n.*2288G>A) c.2038G>A (p.Glu680Lys) c.55G>A (p.Glu19Lys) c.114G>A c.1402-10195G>A (n.1402-10195G>A) c.2374G>A (p.Glu792Lys) c.2554G>A (p.Glu852Lys) c.2221G>A (p.Glu741Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117592631G>T | CA328102 | CFTR | c.2464G>T (p.Glu822Ter) c.*2178G>T (n.*2178G>T) c.2281G>T (p.Glu761Ter) c.*764G>T (n.*764G>T) c.*2288G>T (n.*2288G>T) c.2038G>T (p.Glu680Ter) c.55G>T (p.Glu19Ter) c.114G>T c.1402-10195G>T (n.1402-10195G>T) c.2374G>T (p.Glu792Ter) c.2554G>T (p.Glu852Ter) c.2221G>T (p.Glu741Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |