| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117591993A>T | CA326694 | CFTR | c.1826A>T (p.His609Leu) c.*1540A>T (n.*1540A>T) c.1643A>T (p.His548Leu) c.*126A>T (n.*126A>T) c.*1650A>T (n.*1650A>T) c.1400A>T (p.His467Leu) c.1402-10833A>T (n.1402-10833A>T) c.1736A>T (p.His579Leu) c.1916A>T (p.His639Leu) c.1583A>T (p.His528Leu) | ClinVar dbSNP COSMIC |
| 7 | g.117591993A>G | CA326692 | CFTR | c.1826A>G (p.His609Arg) c.*1540A>G (n.*1540A>G) c.1643A>G (p.His548Arg) c.*126A>G (n.*126A>G) c.*1650A>G (n.*1650A>G) c.1400A>G (p.His467Arg) c.1402-10833A>G (n.1402-10833A>G) c.1736A>G (p.His579Arg) c.1916A>G (p.His639Arg) c.1583A>G (p.His528Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117591993A= | CA1737393950 | CFTR | c.1826A= (p.His609=) c.*1540A= (n.*1540A=) c.1643A= (p.His548=) c.*126A= (n.*126A=) c.*1650A= (n.*1650A=) c.1400A= (p.His467=) c.1402-10833A= (n.1402-10833A=) c.1736A= (p.His579=) c.1916A= (p.His639=) c.1583A= (p.His528=) | dbSNP |