| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117652857dup | CA327328 | CFTR | c.*98dup (n.*98dup) c.*3603dup (n.*3603dup) c.3706dup (p.Ser1236PhefsTer5) c.*102dup (n.*102dup) c.*542dup (n.*542dup) c.3889dup (p.Ser1297PhefsTer5) c.*550dup (n.*550dup) c.*2264dup (n.*2264dup) c.3883dup (p.Ser1295PhefsTer5) c.*3713dup (n.*3713dup) c.3463dup (p.Ser1155PhefsTer5) n.2057dup c.753dup (n.753dup) c.1676dup (n.1676dup) c.471dup c.1339dup c.3799dup (p.Ser1267PhefsTer5) c.15dup c.3979dup (p.Ser1327PhefsTer5) c.3646dup (p.Ser1216PhefsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117652857del | CA2580076370 | CFTR | c.*98del (n.*98del) c.*3603del (n.*3603del) c.3706del (p.Ser1236LeufsTer?) c.*102del (n.*102del) c.*542del (n.*542del) c.3889del (p.Ser1297LeufsTer?) c.*550del (n.*550del) c.*2264del (n.*2264del) c.3883del (p.Ser1295LeufsTer?) c.*3713del (n.*3713del) c.3463del (p.Ser1155LeufsTer?) n.2057del c.753del (n.753del) c.1676del (n.1676del) c.471del c.1339del c.3799del (p.Ser1267LeufsTer?) c.15del c.3979del (p.Ser1327LeufsTer?) c.3646del (p.Ser1216LeufsTer?) | ClinVar dbSNP gnomAD v4 |