| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587808C>T | CA325585 | CFTR | c.1654C>T (p.Gln552Ter) c.*1368C>T (n.*1368C>T) c.1471C>T (p.Gln491Ter) c.*1478C>T (n.*1478C>T) c.1228C>T (p.Gln410Ter) c.1402-15018C>T (n.1402-15018C>T) c.1564C>T (p.Gln522Ter) c.1744C>T (p.Gln582Ter) c.1411C>T (p.Gln471Ter) | ClinVar dbSNP |
| 7 | g.117587808C>A | CA368976108 | CFTR | c.1654C>A (p.Gln552Lys) c.*1368C>A (n.*1368C>A) c.1471C>A (p.Gln491Lys) c.*1478C>A (n.*1478C>A) c.1228C>A (p.Gln410Lys) c.1402-15018C>A (n.1402-15018C>A) c.1564C>A (p.Gln522Lys) c.1744C>A (p.Gln582Lys) c.1411C>A (p.Gln471Lys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117587808C= | CA1737390531 | CFTR | c.1654C= (p.Gln552=) c.*1368C= (n.*1368C=) c.1471C= (p.Gln491=) c.*1478C= (n.*1478C=) c.1228C= (p.Gln410=) c.1402-15018C= (n.1402-15018C=) c.1564C= (p.Gln522=) c.1744C= (p.Gln582=) c.1411C= (p.Gln471=) | dbSNP |