| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592520C>T | CA326800 | CFTR | c.2353C>T (p.Arg785Ter) c.*2067C>T (n.*2067C>T) c.2170C>T (p.Arg724Ter) c.*653C>T (n.*653C>T) c.*2177C>T (n.*2177C>T) c.1927C>T (p.Arg643Ter) c.3C>T c.1402-10306C>T (n.1402-10306C>T) c.2263C>T (p.Arg755Ter) c.2443C>T (p.Arg815Ter) c.2110C>T (p.Arg704Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592520C= | CA1737395314 | CFTR | c.2353C= (p.Arg785=) c.*2067C= (n.*2067C=) c.2170C= (p.Arg724=) c.*653C= (n.*653C=) c.*2177C= (n.*2177C=) c.1927C= (p.Arg643=) c.3C= c.1402-10306C= (n.1402-10306C=) c.2263C= (p.Arg755=) c.2443C= (p.Arg815=) c.2110C= (p.Arg704=) | dbSNP |
| 7 | g.117592520C>G | CA368981041 | CFTR | c.2353C>G (p.Arg785Gly) c.*2067C>G (n.*2067C>G) c.2170C>G (p.Arg724Gly) c.*653C>G (n.*653C>G) c.*2177C>G (n.*2177C>G) c.1927C>G (p.Arg643Gly) c.3C>G c.1402-10306C>G (n.1402-10306C>G) c.2263C>G (p.Arg755Gly) c.2443C>G (p.Arg815Gly) c.2110C>G (p.Arg704Gly) | ClinVar dbSNP |