| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587778G>T | CA284836 | CFTR | c.1624G>T (p.Gly542Ter) c.*1338G>T (n.*1338G>T) c.1441G>T (p.Gly481Ter) c.*1448G>T (n.*1448G>T) c.1198G>T (p.Gly400Ter) c.1402-15048G>T (n.1402-15048G>T) c.1534G>T (p.Gly512Ter) c.1714G>T (p.Gly572Ter) c.1381G>T (p.Gly461Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117587778G>A | CA368975971 | CFTR | c.1624G>A (p.Gly542Arg) c.*1338G>A (n.*1338G>A) c.1441G>A (p.Gly481Arg) c.*1448G>A (n.*1448G>A) c.1198G>A (p.Gly400Arg) c.1402-15048G>A (n.1402-15048G>A) c.1534G>A (p.Gly512Arg) c.1714G>A (p.Gly572Arg) c.1381G>A (p.Gly461Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |