| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530953del | CA327129 | CFTR | c.328del (p.Asp110ThrfsTer14) c.*225del (n.*225del) c.*152del (n.*152del) c.85del (p.Asp29ThrfsTer14) c.85del (p.Asp29ThrfsTer?) c.418del (p.Asp140ThrfsTer14) | ClinVar dbSNP |
| 7 | g.117530953G= | CA1737359299 | CFTR | c.328G= (p.Asp110=) c.*225G= (n.*225G=) c.*152G= (n.*152G=) c.85G= (p.Asp29=) c.418G= (p.Asp140=) | dbSNP dbSNP |