| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559609A>G | CA326529 | CFTR,CFTR-AS1 | c.1538A>G (p.Asp513Gly) c.*1252A>G (n.*1252A>G) c.1355A>G (p.Asp452Gly) c.*96A>G (n.*96A>G) c.*1362A>G (n.*1362A>G) c.1112A>G (p.Asp371Gly) c.1448A>G (p.Asp483Gly) c.1628A>G (p.Asp543Gly) c.1295A>G (p.Asp432Gly) n.221+1124T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117559609A= | CA1737384743 | CFTR,CFTR-AS1 | c.1538A= (p.Asp513=) c.*1252A= (n.*1252A=) c.1355A= (p.Asp452=) c.*96A= (n.*96A=) c.*1362A= (n.*1362A=) c.1112A= (p.Asp371=) c.1448A= (p.Asp483=) c.1628A= (p.Asp543=) c.1295A= (p.Asp432=) n.221+1124T= | dbSNP |