| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117548671C>T | CA326443 | CFTR,CFTR-AS1 | c.1240C>T (p.Gln414Ter) c.*1106+6563C>T (n.*1106+6563C>T) c.1209+6563C>T (n.1209+6563C>T) c.*1064C>T (n.*1064C>T) c.966+6563C>T (n.966+6563C>T) c.997C>T (p.Gln333Ter) c.1150C>T (p.Gln384Ter) c.1330C>T (p.Gln444Ter) n.222-6132G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.117548671C>G | CA368981411 | CFTR,CFTR-AS1 | c.1240C>G (p.Gln414Glu) c.*1106+6563C>G (n.*1106+6563C>G) c.1209+6563C>G (n.1209+6563C>G) c.*1064C>G (n.*1064C>G) c.966+6563C>G (n.966+6563C>G) c.997C>G (p.Gln333Glu) c.1150C>G (p.Gln384Glu) c.1330C>G (p.Gln444Glu) n.222-6132G>C | dbSNP gnomAD v4 |
| 7 | g.117548671C>A | CA368981410 | CFTR,CFTR-AS1 | c.1240C>A (p.Gln414Lys) c.*1106+6563C>A (n.*1106+6563C>A) c.1209+6563C>A (n.1209+6563C>A) c.*1064C>A (n.*1064C>A) c.966+6563C>A (n.966+6563C>A) c.997C>A (p.Gln333Lys) c.1150C>A (p.Gln384Lys) c.1330C>A (p.Gln444Lys) n.222-6132G>T | ClinVar dbSNP |
| 7 | g.117548671C= | CA1737369772 | CFTR,CFTR-AS1 | c.1240C= (p.Gln414=) c.*1106+6563C= (n.*1106+6563C=) c.1209+6563C= (n.1209+6563C=) c.*1064C= (n.*1064C=) c.966+6563C= (n.966+6563C=) c.997C= (p.Gln333=) c.1150C= (p.Gln384=) c.1330C= (p.Gln444=) n.222-6132G= | dbSNP |