NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
|
|
|
NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
|
|
|
NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup
|
|
|
NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del
|
|
|
NC_000007.13:g.(117174420_117175301)_(117175466_117176601)dup
|
|
|
NC_000007.13:g.(117176728_117180153)_(117180401_117182069)dup
|
|
|
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del
|
|
|
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
|
|
|
NC_000007.13:g.(117230494_117231987)_(117232712_117234983)dup
|
|
|
NC_000007.13:g.(117235113_117242879)_(117242918_117243585)dup
|
|
|
NC_000007.13:g.(117242918_117243585)_(117243837_117246727)dup
|
|
|
NC_000007.13:g.(117243837_117246727)_(117246808_117250572)dup
|
|
|
NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
|
|
|
NC_000007.13:g.(117251863_117254666)_(117254768_117267575)dup
|
|
|
NC_000007.13:g.(117254768_117267575)_(117267825_117282491)dup
|
|
|
NC_000007.13:g.(117292986_117304741)_(117304915_117305512)dup
|
|
|
NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
|
|
|
NC_000007.13:g.(?_117120016)_(117120202_117144306)del
|
|
|
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
|
|
|
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter)
|
rs2115882158
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)
|
rs193922498
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs)
|
rs749854099
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
NM_000492.4(CFTR):c.1801del (p.Ile601fs)
|
rs1792031758
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)
|
rs1584812217
|
|
NM_000492.4(CFTR):c.1970del (p.Arg657fs)
|
rs2116030992
|
|
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
|
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter)
|
rs1792051187
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
NM_000492.4(CFTR):c.273G>C (p.Gly91=)
|
rs773739166
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp)
|
rs193922509
|
|
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)
|
rs397508440
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2982_2988+2del
|
rs1554391489
|
|
NM_000492.4(CFTR):c.2988+1G>T
|
rs75096551
|
|
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
|
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)
|
rs397508572
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter)
|
rs397508581
|
|
NM_000492.4(CFTR):c.3623del (p.Gly1208fs)
|
rs35396083
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg)
|
rs193922519
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)
|
rs267606723
|
|
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup)
|
rs193922521
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3874-2A>C
|
rs1554396384
|
|
NM_000492.4(CFTR):c.3874-2A>G
|
rs1554396384
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs)
|
rs193922523
|
|
NM_000492.4(CFTR):c.396del (p.Ile132fs)
|
rs1798854379
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp)
|
rs193922524
|
|
NM_000492.4(CFTR):c.4046del (p.Gly1349fs)
|
rs1793342111
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+43_580-354del
|
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.531dup (p.Gly178fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.662del (p.Ala221fs)
|
rs2116676645
|
|
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)
|
rs397508784
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
|
|
|
NM_000492.4(CFTR):c.811del (p.Ser271fs)
|
rs1554380789
|
|
NM_000492.4(CFTR):c.930del (p.Phe311fs)
|
rs1584789226
|
|
NM_000492.4(CFTR):c.941G>T (p.Gly314Val)
|
rs75763344
|
|