| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627664G>A | CA325599 | CFTR | c.3517+94G>A (n.3517+94G>A) c.*3325G>A (n.*3325G>A) c.3428G>A (p.Trp1143Ter) c.3611G>A (p.Trp1204Ter) c.*264G>A (n.*264G>A) c.*272G>A (n.*272G>A) c.*1986G>A (n.*1986G>A) c.3605G>A (p.Trp1202Ter) c.*3435G>A (n.*3435G>A) c.3185G>A (p.Trp1062Ter) c.359G>A (p.Trp120Ter) c.1398G>A (n.1398G>A) c.193G>A c.1167+94G>A c.2393G>A (p.Trp798Ter) c.3521G>A (p.Trp1174Ter) c.436G>A c.3701G>A (p.Trp1234Ter) c.3368G>A (p.Trp1123Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627664G= | CA1737398680 | CFTR | c.3517+94G= (n.3517+94G=) c.*3325G= (n.*3325G=) c.3428G= (p.Trp1143=) c.3611G= (p.Trp1204=) c.*264G= (n.*264G=) c.*272G= (n.*272G=) c.*1986G= (n.*1986G=) c.3605G= (p.Trp1202=) c.*3435G= (n.*3435G=) c.3185G= (p.Trp1062=) c.359G= (p.Trp120=) c.1398G= (n.1398G=) c.193G= c.1167+94G= c.2393G= (p.Trp798=) c.3521G= (p.Trp1174=) c.436G= c.3701G= (p.Trp1234=) c.3368G= (p.Trp1123=) | dbSNP |
| 7 | g.117627664G>T | CA368997176 | CFTR | c.3517+94G>T (n.3517+94G>T) c.*3325G>T (n.*3325G>T) c.3428G>T (p.Trp1143Leu) c.3611G>T (p.Trp1204Leu) c.*264G>T (n.*264G>T) c.*272G>T (n.*272G>T) c.*1986G>T (n.*1986G>T) c.3605G>T (p.Trp1202Leu) c.*3435G>T (n.*3435G>T) c.3185G>T (p.Trp1062Leu) c.359G>T (p.Trp120Leu) c.1398G>T (n.1398G>T) c.193G>T c.1167+94G>T c.2393G>T (p.Trp798Leu) c.3521G>T (p.Trp1174Leu) c.436G>T c.3701G>T (p.Trp1234Leu) c.3368G>T (p.Trp1123Leu) | ClinVar dbSNP |