| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592110A>G | CA368978926 | CFTR | c.1943A>G (p.Asp648Gly) c.*1657A>G (n.*1657A>G) c.1760A>G (p.Asp587Gly) c.*243A>G (n.*243A>G) c.*1767A>G (n.*1767A>G) c.1517A>G (p.Asp506Gly) c.1402-10716A>G (n.1402-10716A>G) c.1853A>G (p.Asp618Gly) c.2033A>G (p.Asp678Gly) c.1700A>G (p.Asp567Gly) | dbSNP |
| 7 | g.117592110A>T | CA325587 | CFTR | c.1943A>T (p.Asp648Val) c.*1657A>T (n.*1657A>T) c.1760A>T (p.Asp587Val) c.*243A>T (n.*243A>T) c.*1767A>T (n.*1767A>T) c.1517A>T (p.Asp506Val) c.1402-10716A>T (n.1402-10716A>T) c.1853A>T (p.Asp618Val) c.2033A>T (p.Asp678Val) c.1700A>T (p.Asp567Val) | ClinVar dbSNP |