| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592416C>T | CA221011 | CFTR | c.2249C>T (p.Pro750Leu) c.*1963C>T (n.*1963C>T) c.2066C>T (p.Pro689Leu) c.*549C>T (n.*549C>T) c.*2073C>T (n.*2073C>T) c.1823C>T (p.Pro608Leu) c.1402-10410C>T (n.1402-10410C>T) c.2159C>T (p.Pro720Leu) c.2339C>T (p.Pro780Leu) c.2006C>T (p.Pro669Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592416C= | CA1737395094 | CFTR | c.2249C= (p.Pro750=) c.*1963C= (n.*1963C=) c.2066C= (p.Pro689=) c.*549C= (n.*549C=) c.*2073C= (n.*2073C=) c.1823C= (p.Pro608=) c.1402-10410C= (n.1402-10410C=) c.2159C= (p.Pro720=) c.2339C= (p.Pro780=) c.2006C= (p.Pro669=) | dbSNP |