| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535409C>A | CA368977223 | CFTR | c.741C>A (p.Tyr247Ter) c.*638C>A (n.*638C>A) c.*565C>A (n.*565C>A) c.498C>A (p.Tyr166Ter) c.651C>A (p.Tyr217Ter) c.831C>A (p.Tyr277Ter) | ClinVar dbSNP |
| 7 | g.117535409C>T | CA164945759 | CFTR | c.741C>T (p.Tyr247=) c.*638C>T (n.*638C>T) c.*565C>T (n.*565C>T) c.498C>T (p.Tyr166=) c.651C>T (p.Tyr217=) c.831C>T (p.Tyr277=) | dbSNP |
| 7 | g.117535409C>G | CA327641 | CFTR | c.741C>G (p.Tyr247Ter) c.*638C>G (n.*638C>G) c.*565C>G (n.*565C>G) c.498C>G (p.Tyr166Ter) c.651C>G (p.Tyr217Ter) c.831C>G (p.Tyr277Ter) | ClinVar dbSNP |