| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592184G>A | CA368979251 | CFTR | c.2017G>A (p.Gly673Arg) c.*1731G>A (n.*1731G>A) c.1834G>A (p.Gly612Arg) c.*317G>A (n.*317G>A) c.*1841G>A (n.*1841G>A) c.1591G>A (p.Gly531Arg) c.1402-10642G>A (n.1402-10642G>A) c.1927G>A (p.Gly643Arg) c.2107G>A (p.Gly703Arg) c.1774G>A (p.Gly592Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592184G>T | CA326730 | CFTR | c.2017G>T (p.Gly673Ter) c.*1731G>T (n.*1731G>T) c.1834G>T (p.Gly612Ter) c.*317G>T (n.*317G>T) c.*1841G>T (n.*1841G>T) c.1591G>T (p.Gly531Ter) c.1402-10642G>T (n.1402-10642G>T) c.1927G>T (p.Gly643Ter) c.2107G>T (p.Gly703Ter) c.1774G>T (p.Gly592Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592184G= | CA1737394484 | CFTR | c.2017G= (p.Gly673=) c.*1731G= (n.*1731G=) c.1834G= (p.Gly612=) c.*317G= (n.*317G=) c.*1841G= (n.*1841G=) c.1591G= (p.Gly531=) c.1402-10642G= (n.1402-10642G=) c.1927G= (p.Gly643=) c.2107G= (p.Gly703=) c.1774G= (p.Gly592=) | dbSNP |