| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587802G>A | CA326570 | CFTR | c.1648G>A (p.Gly550Arg) c.*1362G>A (n.*1362G>A) c.1465G>A (p.Gly489Arg) c.*1472G>A (n.*1472G>A) c.1222G>A (p.Gly408Arg) c.1402-15024G>A (n.1402-15024G>A) c.1558G>A (p.Gly520Arg) c.1738G>A (p.Gly580Arg) c.1405G>A (p.Gly469Arg) | ClinVar dbSNP |
| 7 | g.117587802G>T | CA326572 | CFTR | c.1648G>T (p.Gly550Ter) c.*1362G>T (n.*1362G>T) c.1465G>T (p.Gly489Ter) c.*1472G>T (n.*1472G>T) c.1222G>T (p.Gly408Ter) c.1402-15024G>T (n.1402-15024G>T) c.1558G>T (p.Gly520Ter) c.1738G>T (p.Gly580Ter) c.1405G>T (p.Gly469Ter) | ClinVar dbSNP |
| 7 | g.117587802G= | CA1737390491 | CFTR | c.1648G= (p.Gly550=) c.*1362G= (n.*1362G=) c.1465G= (p.Gly489=) c.*1472G= (n.*1472G=) c.1222G= (p.Gly408=) c.1402-15024G= (n.1402-15024G=) c.1558G= (p.Gly520=) c.1738G= (p.Gly580=) c.1405G= (p.Gly469=) | dbSNP |