Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117627676dup | CA577223239 | CFTR | c.3517+106dup (n.3517+106dup) c.*3337dup (n.*3337dup) c.3440dup (p.Gln1148ProfsTer?) c.3623dup (p.Gln1209ProfsTer?) c.*276dup (n.*276dup) c.*284dup (n.*284dup) c.*1998dup (n.*1998dup) c.3617dup (p.Gln1207ProfsTer?) c.*3447dup (n.*3447dup) c.3197dup (p.Gln1067ProfsTer?) c.371dup (p.Gln125ProfsTer?) c.1410dup (n.1410dup) c.205dup c.1167+106dup c.2405dup (p.Gln803ProfsTer?) c.3533dup (p.Gln1179ProfsTer?) c.448dup c.3713dup (p.Gln1239ProfsTer?) c.3380dup (p.Gln1128ProfsTer?) | ClinVar dbSNP gnomAD v2 |
7 | g.117627676del | CA327244 | CFTR | c.3517+106del (n.3517+106del) c.*3337del (n.*3337del) c.3440del (p.Gly1147AlafsTer3) c.3623del (p.Gly1208AlafsTer3) c.*276del (n.*276del) c.*284del (n.*284del) c.*1998del (n.*1998del) c.3617del (p.Gly1206AlafsTer3) c.*3447del (n.*3447del) c.3197del (p.Gly1066AlafsTer3) c.371del (p.Gly124AlafsTer3) c.1410del (n.1410del) c.205del c.1167+106del c.2405del (p.Gly802AlafsTer3) c.3533del (p.Gly1178AlafsTer3) c.448del c.3713del (p.Gly1238AlafsTer3) c.3380del (p.Gly1127AlafsTer3) | ClinVar dbSNP |