| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117594977G>A | CA325527 | CFTR | c.2538G>A (p.Trp846Ter) c.*2252G>A (n.*2252G>A) c.2355G>A (p.Trp785Ter) c.*838G>A (n.*838G>A) c.*2362G>A (n.*2362G>A) c.2112G>A (p.Trp704Ter) c.129G>A (p.Trp43Ter) c.188G>A c.1402-7849G>A (n.1402-7849G>A) c.2448G>A (p.Trp816Ter) c.2628G>A (p.Trp876Ter) c.2295G>A (p.Trp765Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117594977G= | CA1737397758 | CFTR | c.2538G= (p.Trp846=) c.*2252G= (n.*2252G=) c.2355G= (p.Trp785=) c.*838G= (n.*838G=) c.*2362G= (n.*2362G=) c.2112G= (p.Trp704=) c.129G= (p.Trp43=) c.188G= c.1402-7849G= (n.1402-7849G=) c.2448G= (p.Trp816=) c.2628G= (p.Trp876=) c.2295G= (p.Trp765=) | dbSNP |