| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611707G>A | CA340653 | CFTR | c.3266G>A (p.Trp1089Ter) c.*2980G>A (n.*2980G>A) c.3083G>A (p.Trp1028Ter) c.*1566G>A (n.*1566G>A) c.*3090G>A (n.*3090G>A) c.2840G>A (p.Trp947Ter) c.14G>A (p.Trp5Ter) c.857G>A (p.Trp286Ter) c.916G>A c.2048G>A (p.Trp683Ter) c.3176G>A (p.Trp1059Ter) c.91G>A c.3356G>A (p.Trp1119Ter) c.3023G>A (p.Trp1008Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611707G= | CA1737387240 | CFTR | c.3266G= (p.Trp1089=) c.*2980G= (n.*2980G=) c.3083G= (p.Trp1028=) c.*1566G= (n.*1566G=) c.*3090G= (n.*3090G=) c.2840G= (p.Trp947=) c.14G= (p.Trp5=) c.857G= (p.Trp286=) c.916G= c.2048G= (p.Trp683=) c.3176G= (p.Trp1059=) c.91G= c.3356G= (p.Trp1119=) c.3023G= (p.Trp1008=) | dbSNP |
| 7 | g.117611707G>T | CA368992313 | CFTR | c.3266G>T (p.Trp1089Leu) c.*2980G>T (n.*2980G>T) c.3083G>T (p.Trp1028Leu) c.*1566G>T (n.*1566G>T) c.*3090G>T (n.*3090G>T) c.2840G>T (p.Trp947Leu) c.14G>T (p.Trp5Leu) c.857G>T (p.Trp286Leu) c.916G>T c.2048G>T (p.Trp683Leu) c.3176G>T (p.Trp1059Leu) c.91G>T c.3356G>T (p.Trp1119Leu) c.3023G>T (p.Trp1008Leu) | ClinVar dbSNP gnomAD v4 |