| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627640C>A | CA368997066 | CFTR | c.3517+70C>A (n.3517+70C>A) c.*3301C>A (n.*3301C>A) c.3404C>A (p.Ser1135Ter) c.3587C>A (p.Ser1196Ter) c.*240C>A (n.*240C>A) c.*248C>A (n.*248C>A) c.*1962C>A (n.*1962C>A) c.3581C>A (p.Ser1194Ter) c.*3411C>A (n.*3411C>A) c.3161C>A (p.Ser1054Ter) c.335C>A (p.Ser112Ter) c.1374C>A (n.1374C>A) c.169C>A c.1167+70C>A c.2369C>A (p.Ser790Ter) c.3497C>A (p.Ser1166Ter) c.412C>A c.3677C>A (p.Ser1226Ter) c.3344C>A (p.Ser1115Ter) | ClinVar dbSNP COSMIC |
| 7 | g.117627640C>G | CA328116 | CFTR | c.3517+70C>G (n.3517+70C>G) c.*3301C>G (n.*3301C>G) c.3404C>G (p.Ser1135Ter) c.3587C>G (p.Ser1196Ter) c.*240C>G (n.*240C>G) c.*248C>G (n.*248C>G) c.*1962C>G (n.*1962C>G) c.3581C>G (p.Ser1194Ter) c.*3411C>G (n.*3411C>G) c.3161C>G (p.Ser1054Ter) c.335C>G (p.Ser112Ter) c.1374C>G (n.1374C>G) c.169C>G c.1167+70C>G c.2369C>G (p.Ser790Ter) c.3497C>G (p.Ser1166Ter) c.412C>G c.3677C>G (p.Ser1226Ter) c.3344C>G (p.Ser1115Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |