| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530917C>T | CA345317 | CFTR | c.292C>T (p.Gln98Ter) c.*189C>T (n.*189C>T) c.*116C>T (n.*116C>T) c.49C>T (p.Gln17Ter) c.382C>T (p.Gln128Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530917C= | CA1737359145 | CFTR | c.292C= (p.Gln98=) c.*189C= (n.*189C=) c.*116C= (n.*116C=) c.49C= (p.Gln17=) c.382C= (p.Gln128=) | dbSNP |