NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
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rs79282516
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0.00001
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NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
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NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
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NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)
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|
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NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter)
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rs1799418948
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NM_000492.4(CFTR):c.1472_1482del (p.Cys491fs)
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|
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NM_000492.4(CFTR):c.1483del (p.Ser495fs)
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|
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NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter)
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rs200626971
|
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NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter)
|
rs1799425190
|
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NM_000492.4(CFTR):c.1547_1550del (p.Arg516fs)
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|
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NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter)
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rs55928397
|
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NM_000492.4(CFTR):c.1735_1736del (p.Asp579fs)
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|
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NM_000492.4(CFTR):c.1766+1G>T
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rs121908748
|
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NM_000492.4(CFTR):c.1778_1779del (p.Lys593fs)
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|
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NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
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rs121908777
|
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NM_000492.4(CFTR):c.1822del (p.Glu608fs)
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|
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NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter)
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rs1792033327
|
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NM_000492.4(CFTR):c.1867_1869delinsG (p.Ser623fs)
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|
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NM_000492.4(CFTR):c.1893_1897del (p.Glu632fs)
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|
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NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)
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rs1792036190
|
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NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter)
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rs1792036942
|
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NM_000492.4(CFTR):c.2241del (p.Ile748fs)
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NM_000492.4(CFTR):c.2283dup (p.Gln762fs)
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|
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NM_000492.4(CFTR):c.2379del (p.Val794fs)
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|
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NM_000492.4(CFTR):c.2410G>T (p.Glu804Ter)
|
rs1792049376
|
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NM_000492.4(CFTR):c.2426C>A (p.Ser809Ter)
|
rs1457971953
|
|
NM_000492.4(CFTR):c.2617G>T (p.Glu873Ter)
|
rs1792100143
|
|
NM_000492.4(CFTR):c.2646G>A (p.Trp882Ter)
|
rs1792246412
|
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NM_000492.4(CFTR):c.269T>A (p.Leu90Ter)
|
rs397508421
|
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NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
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NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter)
|
rs1408746819
|
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NM_000492.4(CFTR):c.2824del (p.Ile942fs)
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|
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NM_000492.4(CFTR):c.283A>T (p.Lys95Ter)
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|
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NM_000492.4(CFTR):c.2891_2892delinsA (p.Leu964fs)
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|
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NM_000492.4(CFTR):c.2948del (p.Leu983fs)
|
|
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NM_000492.4(CFTR):c.332del (p.Pro111fs)
|
rs2116670123
|
|
NM_000492.4(CFTR):c.3398_3399del (p.Leu1133fs)
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|
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NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)
|
|
|
NM_000492.4(CFTR):c.3493_3494delinsT (p.Lys1165fs)
|
|
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NM_000492.4(CFTR):c.3547A>T (p.Lys1183Ter)
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|
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NM_000492.4(CFTR):c.3567dup (p.Val1190fs)
|
|
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NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
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NM_000492.4(CFTR):c.3587C>A (p.Ser1196Ter)
|
rs121908763
|
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NM_000492.4(CFTR):c.3682G>T (p.Glu1228Ter)
|
rs759116351
|
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NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter)
|
rs121908766
|
|
NM_000492.4(CFTR):c.3717+4A>G
|
rs387906362
|
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NM_000492.4(CFTR):c.3782_3783del (p.Leu1261fs)
|
|
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NM_000492.4(CFTR):c.3793G>T (p.Gly1265Ter)
|
|
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NM_000492.4(CFTR):c.3836T>A (p.Leu1279Ter)
|
|
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NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter)
|
rs1792935619
|
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NM_000492.4(CFTR):c.3949A>T (p.Lys1317Ter)
|
rs1793110279
|
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NM_000492.4(CFTR):c.4032T>A (p.Cys1344Ter)
|
|
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NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter)
|
rs751098333
|
|
NM_000492.4(CFTR):c.441_442del (p.Ile148fs)
|
|
|
NM_000492.4(CFTR):c.480_483del (p.Tyr161fs)
|
|
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NM_000492.4(CFTR):c.502_503del (p.Ser168fs)
|
|
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NM_000492.4(CFTR):c.520_530del (p.Lys174fs)
|
|
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NM_000492.4(CFTR):c.534_538del (p.Gln179fs)
|
|
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NM_000492.4(CFTR):c.617T>A (p.Leu206Ter)
|
|
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NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter)
|
rs1800082
|
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NM_000492.4(CFTR):c.742A>T (p.Arg248Ter)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.751A>T (p.Arg251Ter)
|
rs1798959540
|
|
NM_000492.4(CFTR):c.772del (p.Arg258fs)
|
|
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NM_000492.4(CFTR):c.817A>T (p.Lys273Ter)
|
rs1296578005
|
|
NM_000492.4(CFTR):c.915_916del (p.Phe305fs)
|
|
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