| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603609C>T | CA325592 | CFTR | c.2735C>T (p.Ser912Leu) c.*2449C>T (n.*2449C>T) c.2552C>T (p.Ser851Leu) c.*1035C>T (n.*1035C>T) c.*2559C>T (n.*2559C>T) c.2309C>T (p.Ser770Leu) c.326C>T (p.Ser109Leu) c.385C>T c.1517C>T (p.Ser506Leu) c.2645C>T (p.Ser882Leu) c.2825C>T (p.Ser942Leu) c.2492C>T (p.Ser831Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117603609C>A | CA326900 | CFTR | c.2735C>A (p.Ser912Ter) c.*2449C>A (n.*2449C>A) c.2552C>A (p.Ser851Ter) c.*1035C>A (n.*1035C>A) c.*2559C>A (n.*2559C>A) c.2309C>A (p.Ser770Ter) c.326C>A (p.Ser109Ter) c.385C>A c.1517C>A (p.Ser506Ter) c.2645C>A (p.Ser882Ter) c.2825C>A (p.Ser942Ter) c.2492C>A (p.Ser831Ter) | ClinVar dbSNP |
| 7 | g.117603609C>G | CA368986536 | CFTR | c.2735C>G (p.Ser912Trp) c.*2449C>G (n.*2449C>G) c.2552C>G (p.Ser851Trp) c.*1035C>G (n.*1035C>G) c.*2559C>G (n.*2559C>G) c.2309C>G (p.Ser770Trp) c.326C>G (p.Ser109Trp) c.385C>G c.1517C>G (p.Ser506Trp) c.2645C>G (p.Ser882Trp) c.2825C>G (p.Ser942Trp) c.2492C>G (p.Ser831Trp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603609C= | CA1737374679 | CFTR | c.2735C= (p.Ser912=) c.*2449C= (n.*2449C=) c.2552C= (p.Ser851=) c.*1035C= (n.*1035C=) c.*2559C= (n.*2559C=) c.2309C= (p.Ser770=) c.326C= (p.Ser109=) c.385C= c.1517C= (p.Ser506=) c.2645C= (p.Ser882=) c.2825C= (p.Ser942=) c.2492C= (p.Ser831=) | dbSNP |