| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117591968A>G | CA368977959 | CFTR | c.1801A>G (p.Ile601Val) c.*1515A>G (n.*1515A>G) c.1618A>G (p.Ile540Val) c.*101A>G (n.*101A>G) c.*1625A>G (n.*1625A>G) c.1375A>G (p.Ile459Val) c.1402-10858A>G (n.1402-10858A>G) c.1711A>G (p.Ile571Val) c.1891A>G (p.Ile631Val) c.1558A>G (p.Ile520Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117591968A>T | CA326681 | CFTR | c.1801A>T (p.Ile601Phe) c.*1515A>T (n.*1515A>T) c.1618A>T (p.Ile540Phe) c.*101A>T (n.*101A>T) c.*1625A>T (n.*1625A>T) c.1375A>T (p.Ile459Phe) c.1402-10858A>T (n.1402-10858A>T) c.1711A>T (p.Ile571Phe) c.1891A>T (p.Ile631Phe) c.1558A>T (p.Ile520Phe) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |