| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559629G>T | CA325545 | CFTR,CFTR-AS1 | c.1558G>T (p.Val520Phe) c.*1272G>T (n.*1272G>T) c.1375G>T (p.Val459Phe) c.*116G>T (n.*116G>T) c.*1382G>T (n.*1382G>T) c.1132G>T (p.Val378Phe) c.1468G>T (p.Val490Phe) c.1648G>T (p.Val550Phe) c.1315G>T (p.Val439Phe) n.221+1104C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559629G>A | CA221008 | CFTR,CFTR-AS1 | c.1558G>A (p.Val520Ile) c.*1272G>A (n.*1272G>A) c.1375G>A (p.Val459Ile) c.*116G>A (n.*116G>A) c.*1382G>A (n.*1382G>A) c.1132G>A (p.Val378Ile) c.1468G>A (p.Val490Ile) c.1648G>A (p.Val550Ile) c.1315G>A (p.Val439Ile) n.221+1104C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |