| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530950_117530952delinsG | CA328112 | CFTR | c.325_327delinsG (p.Tyr109GlyfsTer4) c.*222_*224delinsG (n.*222_*224delinsG) c.*149_*151delinsG (n.*149_*151delinsG) c.82_84delinsG (p.Tyr28GlyfsTer4) c.415_417delinsG (p.Tyr139GlyfsTer4) | ClinVar dbSNP |
| 7 | g.117530951_117530952del | CA327120 | CFTR | c.326_327del (p.Tyr109Ter) c.*223_*224del (n.*223_*224del) c.*150_*151del (n.*150_*151del) c.83_84del (p.Tyr28Ter) c.416_417del (p.Tyr139Ter) | ClinVar dbSNP |