| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611734G>A | CA327131 | CFTR | c.3293G>A (p.Trp1098Ter) c.*3007G>A (n.*3007G>A) c.3110G>A (p.Trp1037Ter) c.*1593G>A (n.*1593G>A) c.*3117G>A (n.*3117G>A) c.2867G>A (p.Trp956Ter) c.41G>A (p.Trp14Ter) c.884G>A (p.Trp295Ter) c.943G>A c.2075G>A (p.Trp692Ter) c.3203G>A (p.Trp1068Ter) c.118G>A c.3383G>A (p.Trp1128Ter) c.3050G>A (p.Trp1017Ter) | ClinVar dbSNP |
| 7 | g.117611734G= | CA1737387413 | CFTR | c.3293G= (p.Trp1098=) c.*3007G= (n.*3007G=) c.3110G= (p.Trp1037=) c.*1593G= (n.*1593G=) c.*3117G= (n.*3117G=) c.2867G= (p.Trp956=) c.41G= (p.Trp14=) c.884G= (p.Trp295=) c.943G= c.2075G= (p.Trp692=) c.3203G= (p.Trp1068=) c.118G= c.3383G= (p.Trp1128=) c.3050G= (p.Trp1017=) | dbSNP |
| 7 | g.117611734G>T | CA368992413 | CFTR | c.3293G>T (p.Trp1098Leu) c.*3007G>T (n.*3007G>T) c.3110G>T (p.Trp1037Leu) c.*1593G>T (n.*1593G>T) c.*3117G>T (n.*3117G>T) c.2867G>T (p.Trp956Leu) c.41G>T (p.Trp14Leu) c.884G>T (p.Trp295Leu) c.943G>T c.2075G>T (p.Trp692Leu) c.3203G>T (p.Trp1068Leu) c.118G>T c.3383G>T (p.Trp1128Leu) c.3050G>T (p.Trp1017Leu) | ClinVar dbSNP |
| 7 | g.117611734G>C | CA368992410 | CFTR | c.3293G>C (p.Trp1098Ser) c.*3007G>C (n.*3007G>C) c.3110G>C (p.Trp1037Ser) c.*1593G>C (n.*1593G>C) c.*3117G>C (n.*3117G>C) c.2867G>C (p.Trp956Ser) c.41G>C (p.Trp14Ser) c.884G>C (p.Trp295Ser) c.943G>C c.2075G>C (p.Trp692Ser) c.3203G>C (p.Trp1068Ser) c.118G>C c.3383G>C (p.Trp1128Ser) c.3050G>C (p.Trp1017Ser) | ClinVar dbSNP |