| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117614680G>A | CA327183 | CFTR | c.3435G>A (p.Trp1145Ter) c.*3149G>A (n.*3149G>A) c.3252G>A (p.Trp1084Ter) c.*1810G>A (n.*1810G>A) c.3429G>A (p.Trp1143Ter) c.*3259G>A (n.*3259G>A) c.3009G>A (p.Trp1003Ter) c.183G>A (p.Trp61Ter) c.1026G>A (p.Trp342Ter) c.17G>A c.1085G>A c.2217G>A (p.Trp739Ter) c.3345G>A (p.Trp1115Ter) c.260G>A c.3525G>A (p.Trp1175Ter) c.3192G>A (p.Trp1064Ter) | ClinVar dbSNP |
| 7 | g.117614680G>C | CA368993603 | CFTR | c.3435G>C (p.Trp1145Cys) c.*3149G>C (n.*3149G>C) c.3252G>C (p.Trp1084Cys) c.*1810G>C (n.*1810G>C) c.3429G>C (p.Trp1143Cys) c.*3259G>C (n.*3259G>C) c.3009G>C (p.Trp1003Cys) c.183G>C (p.Trp61Cys) c.1026G>C (p.Trp342Cys) c.17G>C c.1085G>C c.2217G>C (p.Trp739Cys) c.3345G>C (p.Trp1115Cys) c.260G>C c.3525G>C (p.Trp1175Cys) c.3192G>C (p.Trp1064Cys) | dbSNP |
| 7 | g.117614680G= | CA1737392187 | CFTR | c.3435G= (p.Trp1145=) c.*3149G= (n.*3149G=) c.3252G= (p.Trp1084=) c.*1810G= (n.*1810G=) c.3429G= (p.Trp1143=) c.*3259G= (n.*3259G=) c.3009G= (p.Trp1003=) c.183G= (p.Trp61=) c.1026G= (p.Trp342=) c.17G= c.1085G= c.2217G= (p.Trp739=) c.3345G= (p.Trp1115=) c.260G= c.3525G= (p.Trp1175=) c.3192G= (p.Trp1064=) | dbSNP |