Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117590404C>A | CA368977234 | CFTR | c.1731C>A (p.Tyr577Ter) c.*1445C>A (n.*1445C>A) c.1548C>A (p.Tyr516Ter) c.*31C>A (n.*31C>A) c.*1555C>A (n.*1555C>A) c.1305C>A (p.Tyr435Ter) c.1402-12422C>A (n.1402-12422C>A) c.1641C>A (p.Tyr547Ter) c.1821C>A (p.Tyr607Ter) c.1488C>A (p.Tyr496Ter) | ClinVar dbSNP |
7 | g.117590404C>T | CA325696 | CFTR | c.1731C>T (p.Tyr577=) c.*1445C>T (n.*1445C>T) c.1548C>T (p.Tyr516=) c.*31C>T (n.*31C>T) c.*1555C>T (n.*1555C>T) c.1305C>T (p.Tyr435=) c.1402-12422C>T (n.1402-12422C>T) c.1641C>T (p.Tyr547=) c.1821C>T (p.Tyr607=) c.1488C>T (p.Tyr496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |