| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592382del | CA328097 | CFTR | c.2215del (p.Val739TyrfsTer16) c.*1929del (n.*1929del) c.2032del (p.Val678TyrfsTer16) c.*515del (n.*515del) c.*2039del (n.*2039del) c.1789del (p.Val597TyrfsTer16) c.1402-10444del (n.1402-10444del) c.2125del (p.Val709TyrfsTer16) c.2305del (p.Val769TyrfsTer16) c.1972del (p.Val658TyrfsTer16) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592382G= | CA1737395030 | CFTR | c.2215G= (p.Val739=) c.*1929G= (n.*1929G=) c.2032G= (p.Val678=) c.*515G= (n.*515G=) c.*2039G= (n.*2039G=) c.1789G= (p.Val597=) c.1402-10444G= (n.1402-10444G=) c.2125G= (p.Val709=) c.2305G= (p.Val769=) c.1972G= (p.Val658=) | dbSNP dbSNP |