| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592646G>T | CA325553 | CFTR | c.2479G>T (p.Glu827Ter) c.*2193G>T (n.*2193G>T) c.2296G>T (p.Glu766Ter) c.*779G>T (n.*779G>T) c.*2303G>T (n.*2303G>T) c.2053G>T (p.Glu685Ter) c.70G>T (p.Glu24Ter) c.129G>T c.1402-10180G>T (n.1402-10180G>T) c.2389G>T (p.Glu797Ter) c.2569G>T (p.Glu857Ter) c.2236G>T (p.Glu746Ter) | ClinVar dbSNP |
| 7 | g.117592646G= | CA1737395769 | CFTR | c.2479G= (p.Glu827=) c.*2193G= (n.*2193G=) c.2296G= (p.Glu766=) c.*779G= (n.*779G=) c.*2303G= (n.*2303G=) c.2053G= (p.Glu685=) c.70G= (p.Glu24=) c.129G= c.1402-10180G= (n.1402-10180G=) c.2389G= (p.Glu797=) c.2569G= (p.Glu857=) c.2236G= (p.Glu746=) | dbSNP |