| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117590394C>A | CA325523 | CFTR | c.1721C>A (p.Pro574His) c.*1435C>A (n.*1435C>A) c.1538C>A (p.Pro513His) c.*21C>A (n.*21C>A) c.*1545C>A (n.*1545C>A) c.1295C>A (p.Pro432His) c.1402-12432C>A (n.1402-12432C>A) c.1631C>A (p.Pro544His) c.1811C>A (p.Pro604His) c.1478C>A (p.Pro493His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590394C>G | CA368977193 | CFTR | c.1721C>G (p.Pro574Arg) c.*1435C>G (n.*1435C>G) c.1538C>G (p.Pro513Arg) c.*21C>G (n.*21C>G) c.*1545C>G (n.*1545C>G) c.1295C>G (p.Pro432Arg) c.1402-12432C>G (n.1402-12432C>G) c.1631C>G (p.Pro544Arg) c.1811C>G (p.Pro604Arg) c.1478C>G (p.Pro493Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117590394C>T | CA368977195 | CFTR | c.1721C>T (p.Pro574Leu) c.*1435C>T (n.*1435C>T) c.1538C>T (p.Pro513Leu) c.*21C>T (n.*21C>T) c.*1545C>T (n.*1545C>T) c.1295C>T (p.Pro432Leu) c.1402-12432C>T (n.1402-12432C>T) c.1631C>T (p.Pro544Leu) c.1811C>T (p.Pro604Leu) c.1478C>T (p.Pro493Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117590394C= | CA1737392372 | CFTR | c.1721C= (p.Pro574=) c.*1435C= (n.*1435C=) c.1538C= (p.Pro513=) c.*21C= (n.*21C=) c.*1545C= (n.*1545C=) c.1295C= (p.Pro432=) c.1402-12432C= (n.1402-12432C=) c.1631C= (p.Pro544=) c.1811C= (p.Pro604=) c.1478C= (p.Pro493=) | dbSNP |