NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
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rs397508272
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0.00006
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NM_000492.4(CFTR):c.180G>C (p.Glu60Asp)
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rs569426839
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0.00003
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NM_000492.4(CFTR):c.165-3C>T
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rs200337193
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0.00002
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NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)
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rs77284892
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0.00002
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NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
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rs397508256
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0.00001
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NM_000492.4(CFTR):c.192G>A (p.Lys64=)
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rs1325969557
|
0.00001
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NC_000007.14:g.(?_117504243)_(117509152_?)del
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|
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NC_000007.14:g.(?_117504253)_(117509142_?)del
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NM_000492.4(CFTR):c.165-12A>C
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|
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NM_000492.4(CFTR):c.165-12dup
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rs2116641261
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NM_000492.4(CFTR):c.165-17T>C
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|
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NM_000492.4(CFTR):c.165-1G>A
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rs397508249
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NM_000492.4(CFTR):c.165-2A>C
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rs397508250
|
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NM_000492.4(CFTR):c.165-2A>G
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rs397508250
|
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NM_000492.4(CFTR):c.165-2del
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rs1798467599
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NM_000492.4(CFTR):c.165-4G>A
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rs2116641277
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NM_000492.4(CFTR):c.165-4G>T
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|
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NM_000492.4(CFTR):c.165-50A>G
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rs369949496
|
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NM_000492.4(CFTR):c.165-7T>G
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rs2116641270
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NM_000492.4(CFTR):c.165-9C>A
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|
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NM_000492.4(CFTR):c.166G>T (p.Glu56Ter)
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rs397508256
|
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NM_000492.4(CFTR):c.167A>G (p.Glu56Gly)
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rs1554376387
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NM_000492.4(CFTR):c.168A>G (p.Glu56=)
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|
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NM_000492.4(CFTR):c.168del (p.Glu56fs)
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rs397508269
|
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NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
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rs397508272
|
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NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)
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rs397508279
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NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)
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rs121909025
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NM_000492.4(CFTR):c.172G>A (p.Asp58Asn)
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rs397508285
|
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NM_000492.4(CFTR):c.173A>G (p.Asp58Gly)
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rs397508291
|
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NM_000492.4(CFTR):c.173A>T (p.Asp58Val)
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|
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NM_000492.4(CFTR):c.174_177del (p.Asp58fs)
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rs397508295
|
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NM_000492.4(CFTR):c.175dup (p.Arg59fs)
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rs397508294
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NM_000492.4(CFTR):c.177A>G (p.Arg59=)
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rs893977457
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NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)
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rs77284892
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NM_000492.4(CFTR):c.178G>C (p.Glu60Gln)
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rs77284892
|
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NM_000492.4(CFTR):c.179_180del (p.Glu60fs)
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rs1584776308
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NM_000492.4(CFTR):c.180G>A (p.Glu60=)
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|
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NM_000492.4(CFTR):c.181C>T (p.Leu61=)
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|
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NM_000492.4(CFTR):c.184G>A (p.Ala62Thr)
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rs1584776330
|
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NM_000492.4(CFTR):c.184G>C (p.Ala62Pro)
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rs1584776330
|
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NM_000492.4(CFTR):c.184G>T (p.Ala62Ser)
|
rs1584776330
|
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NM_000492.4(CFTR):c.189A>G (p.Ser63=)
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|
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NM_000492.4(CFTR):c.190A>G (p.Lys64Glu)
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