| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540243C>A | CA368978779 | CFTR | c.1013C>A (p.Thr338Asn) c.*910C>A (n.*910C>A) c.*837C>A (n.*837C>A) c.770C>A (p.Thr257Asn) c.923C>A (p.Thr308Asn) c.1103C>A (p.Thr368Asn) | dbSNP |
| 7 | g.117540243C>T | CA325581 | CFTR | c.1013C>T (p.Thr338Ile) c.*910C>T (n.*910C>T) c.*837C>T (n.*837C>T) c.770C>T (p.Thr257Ile) c.923C>T (p.Thr308Ile) c.1103C>T (p.Thr368Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |