| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587804del | CA326580 | CFTR | c.1650del (p.Gly551ValfsTer8) c.*1364del (n.*1364del) c.1467del (p.Gly490ValfsTer8) c.*1474del (n.*1474del) c.1224del (p.Gly409ValfsTer8) c.1402-15022del (n.1402-15022del) c.1560del (p.Gly521ValfsTer8) c.1740del (p.Gly581ValfsTer8) c.1407del (p.Gly470ValfsTer8) | ClinVar dbSNP |
| 7 | g.117587804A= | CA3146045890 | CFTR | c.1650A= (p.Gly550=) c.*1364A= (n.*1364A=) c.1467A= (p.Gly489=) c.*1474A= (n.*1474A=) c.1224A= (p.Gly408=) c.1402-15022A= (n.1402-15022A=) c.1560A= (p.Gly520=) c.1740A= (p.Gly580=) c.1407A= (p.Gly469=) | dbSNP |