NM_000492.4(CFTR):c.3367+246C>T
|
rs2188149
|
0.26366
|
NM_000492.4(CFTR):c.3140-92T>C
|
rs4148717
|
0.12640
|
NM_000492.4(CFTR):c.3139+42A>T
|
rs28517401
|
0.03591
|
NM_000492.4(CFTR):c.3139+199A>T
|
rs115992437
|
0.00693
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_000492.4(CFTR):c.3367+37G>A
|
rs137854873
|
0.00226
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_000492.4(CFTR):c.2989-422G>T
|
rs182521466
|
0.00168
|
NM_000492.4(CFTR):c.3139+18C>T
|
rs147945812
|
0.00126
|
NM_000492.4(CFTR):c.3139+101C>G
|
rs397508502
|
0.00077
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.3367+45T>C
|
rs369353024
|
0.00010
|
NM_000492.4(CFTR):c.3140-33A>G
|
rs373016758
|
0.00009
|
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)
|
rs374403559
|
0.00009
|
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)
|
rs184724618
|
0.00008
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)
|
rs201591901
|
0.00006
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=)
|
rs1800116
|
0.00005
|
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)
|
rs769448889
|
0.00004
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=)
|
rs142526976
|
0.00004
|
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)
|
rs193922516
|
0.00003
|
NM_000492.4(CFTR):c.3128T>A (p.Leu1043Gln)
|
rs1026006397
|
0.00003
|
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)
|
rs1800113
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3239A>G (p.Lys1080Arg)
|
rs564165440
|
0.00003
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
NM_000492.4(CFTR):c.3033A>G (p.Leu1011=)
|
rs773752573
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val)
|
rs759394109
|
0.00002
|
NM_000492.4(CFTR):c.2994A>G (p.Leu998=)
|
rs751537272
|
0.00001
|
NM_000492.4(CFTR):c.3013A>G (p.Ile1005Val)
|
rs1562914085
|
0.00001
|
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=)
|
rs537934752
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3064G>A (p.Val1022Met)
|
rs144441835
|
0.00001
|
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)
|
rs397508494
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3108C>T (p.Thr1036=)
|
rs773627677
|
0.00001
|
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)
|
rs397508500
|
0.00001
|
NM_000492.4(CFTR):c.3139+11G>C
|
rs555185521
|
0.00001
|
NM_000492.4(CFTR):c.3139+19G>A
|
rs751210436
|
0.00001
|
NM_000492.4(CFTR):c.3139+3A>G
|
rs950336425
|
0.00001
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)
|
rs140883683
|
0.00001
|
NM_000492.4(CFTR):c.3160C>T (p.His1054Tyr)
|
rs397508510
|
0.00001
|
NM_000492.4(CFTR):c.3190A>G (p.Thr1064Ala)
|
rs1792387784
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln)
|
rs766126240
|
0.00001
|
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)
|
rs150020260
|
0.00001
|
NM_000492.4(CFTR):c.3273G>C (p.Leu1091Phe)
|
rs752753702
|
0.00001
|
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)
|
rs764434414
|
0.00001
|
NM_000492.4(CFTR):c.3282A>G (p.Ser1094=)
|
rs757727766
|
0.00001
|
NM_000492.4(CFTR):c.3288G>A (p.Leu1096=)
|
rs936512397
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=)
|
rs746620950
|
0.00001
|
NM_000492.4(CFTR):c.3308T>C (p.Ile1103Thr)
|
rs1161781532
|
0.00001
|
NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr)
|
rs751853765
|
0.00001
|
NC_000007.14:g.(?_117610509)_(117614723_?)del
|
|
|
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
|
|
|
NM_000492.3(CFTR):c.2989_3139del151
|
rs1562914028
|
|
NM_000492.3(CFTR):c.[1397C>G;3209G>A]
|
|
|
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]
|
|
|
NM_000492.4(CFTR):c.2620-674_3367+232del
|
|
|
NM_000492.4(CFTR):c.2908+1085_3367+260del
|
|
|
NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
|
|
|
NM_000492.4(CFTR):c.2911_3367+2del
|
|
|
NM_000492.4(CFTR):c.2988+1186_2988+1194del
|
rs534559351
|
|
NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
|
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2989-2A>G
|
rs193922515
|
|
NM_000492.4(CFTR):c.2989-2A>T
|
rs193922515
|
|
NM_000492.4(CFTR):c.2989-313A>T
|
rs1584821306
|
|
NM_000492.4(CFTR):c.2989-3C>G
|
rs397508471
|
|
NM_000492.4(CFTR):c.2989-3C>T
|
|
|
NM_000492.4(CFTR):c.2989-664C>G
|
rs1792355734
|
|
NM_000492.4(CFTR):c.2989-6T>C
|
|
|
NM_000492.4(CFTR):c.2989-81del
|
rs4148715
|
|
NM_000492.4(CFTR):c.2989-908_3085delinsGACAG
|
|
|
NM_000492.4(CFTR):c.2989-977_3367+248del
|
|
|
NM_000492.4(CFTR):c.2991G>A (p.Leu997=)
|
rs1800111
|
|
NM_000492.4(CFTR):c.2991_2993del
|
|
|
NM_000492.4(CFTR):c.2992T>A (p.Leu998Ile)
|
rs2116080345
|
|
NM_000492.4(CFTR):c.2993del (p.Leu998fs)
|
rs1057516415
|
|
NM_000492.4(CFTR):c.2994A>C (p.Leu998Phe)
|
|
|
NM_000492.4(CFTR):c.2994A>T (p.Leu998Phe)
|
|
|
NM_000492.4(CFTR):c.2994del (p.Leu998fs)
|
rs749963273
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.2998_3019del (p.Ile1000fs)
|
rs397508474
|
|
NM_000492.4(CFTR):c.2998del (p.Ile1000fs)
|
rs397508475
|
|
NM_000492.4(CFTR):c.3000T>C (p.Ile1000=)
|
|
|
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)
|
|
|
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)
|
rs193922731
|
|
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
|
rs397508477
|
|
NM_000492.4(CFTR):c.3003G>A (p.Val1001=)
|
|
|
NM_000492.4(CFTR):c.3003G>T (p.Val1001=)
|
rs1377312539
|
|
NM_000492.4(CFTR):c.3005T>C (p.Ile1002Thr)
|
|
|
NM_000492.4(CFTR):c.3006T>A (p.Ile1002=)
|
|
|
NM_000492.4(CFTR):c.3007G>A (p.Gly1003Arg)
|
|
|
NM_000492.4(CFTR):c.3007G>T (p.Gly1003Ter)
|
rs397508478
|
|
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu)
|
rs55803548
|
|
NM_000492.4(CFTR):c.3009A>C (p.Gly1003=)
|
|
|
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)
|
rs1562914072
|
|
NM_000492.4(CFTR):c.3011del (p.Ala1004fs)
|
rs1562914082
|
|
NM_000492.4(CFTR):c.3014T>C (p.Ile1005Thr)
|
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)
|
rs1792366769
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3021del (p.Val1008fs)
|
rs397508481
|
|
NM_000492.4(CFTR):c.3022del (p.Val1008fs)
|
rs397508482
|
|
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)
|
rs397508483
|
|
NM_000492.4(CFTR):c.3025G>T (p.Ala1009Ser)
|
|
|
NM_000492.4(CFTR):c.3027A>G (p.Ala1009=)
|
|
|
NM_000492.4(CFTR):c.3027A>T (p.Ala1009=)
|
|
|
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)
|
rs1562914107
|
|
NM_000492.4(CFTR):c.3034C>A (p.Gln1012Lys)
|
|
|
NM_000492.4(CFTR):c.3035A>G (p.Gln1012Arg)
|
|
|
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser)
|
rs978796108
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.3039C>G (p.Pro1013=)
|
rs1562914129
|
|
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3040_3042del (p.Tyr1014del)
|
rs1584821602
|
|
NM_000492.4(CFTR):c.3042C>T (p.Tyr1014=)
|
|
|
NM_000492.4(CFTR):c.3043A>G (p.Ile1015Val)
|
|
|
NM_000492.4(CFTR):c.3045C>A (p.Ile1015=)
|
|
|
NM_000492.4(CFTR):c.3045C>T (p.Ile1015=)
|
|
|
NM_000492.4(CFTR):c.3060G>A (p.Val1020=)
|
rs1584821629
|
|
NM_000492.4(CFTR):c.3060G>T (p.Val1020=)
|
|
|
NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu)
|
rs1554392023
|
|
NM_000492.4(CFTR):c.3063A>G (p.Pro1021=)
|
|
|
NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu)
|
rs144441835
|
|
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)
|
rs1554392027
|
|
NM_000492.4(CFTR):c.3065T>C (p.Val1022Ala)
|
|
|
NM_000492.4(CFTR):c.3065T>G (p.Val1022Gly)
|
|
|
NM_000492.4(CFTR):c.3066G>A (p.Val1022=)
|
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)
|
rs756219310
|
|
NM_000492.4(CFTR):c.3068_3072del (p.Ile1023fs)
|
rs397508493
|
|
NM_000492.4(CFTR):c.3070G>A (p.Val1024Met)
|
|
|
NM_000492.4(CFTR):c.3071T>A (p.Val1024Glu)
|
|
|
NM_000492.4(CFTR):c.3073G>T (p.Ala1025Ser)
|
|
|
NM_000492.4(CFTR):c.3075T>G (p.Ala1025=)
|
rs2116080954
|
|
NM_000492.4(CFTR):c.3076T>G (p.Phe1026Val)
|
|
|
NM_000492.4(CFTR):c.3078del (p.Phe1026fs)
|
|
|
NM_000492.4(CFTR):c.3081T>A (p.Ile1027=)
|
|
|
NM_000492.4(CFTR):c.3084G>T (p.Met1028Ile)
|
rs200553511
|
|
NM_000492.4(CFTR):c.3085T>A (p.Leu1029Met)
|
|
|
NM_000492.4(CFTR):c.3090A>G (p.Arg1030=)
|
|
|
NM_000492.4(CFTR):c.3092C>G (p.Ala1031Gly)
|
|
|
NM_000492.4(CFTR):c.3093A>C (p.Ala1031=)
|
|
|
NM_000492.4(CFTR):c.3093A>G (p.Ala1031=)
|
|
|
NM_000492.4(CFTR):c.3093A>T (p.Ala1031=)
|
|
|
NM_000492.4(CFTR):c.3099C>A (p.Phe1033Leu)
|
|
|
NM_000492.4(CFTR):c.3100C>T (p.Leu1034Phe)
|
rs1554392043
|
|
NM_000492.4(CFTR):c.3101T>C (p.Leu1034Pro)
|
|
|
NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg)
|
rs1792369943
|
|
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
|
rs397508496
|
|
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
|
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.3108C>G (p.Thr1036=)
|
rs773627677
|
|
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter)
|
rs1562914200
|
|
NM_000492.4(CFTR):c.3114G>A (p.Gln1038=)
|
rs2116081223
|
|
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup)
|
rs1469768894
|
|
NM_000492.4(CFTR):c.3117A>G (p.Gln1039=)
|
|
|
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe)
|
rs1562914212
|
|
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
|
|
|
NM_000492.4(CFTR):c.3120C>T (p.Leu1040=)
|
|
|
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg)
|
rs1562914220
|
|
NM_000492.4(CFTR):c.3125A>G (p.Gln1042Arg)
|
|
|
NM_000492.4(CFTR):c.3129G>A (p.Leu1043=)
|
|
|
NM_000492.4(CFTR):c.3131A>G (p.Glu1044Gly)
|
rs397508501
|
|
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)
|
rs1584821736
|
|
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe)
|
rs1584821736
|
|
NM_000492.4(CFTR):c.3139+10T>C
|
|
|
NM_000492.4(CFTR):c.3139+17G>A
|
|
|
NM_000492.4(CFTR):c.3139+17G>T
|
|
|
NM_000492.4(CFTR):c.3139+1G>A
|
rs397508503
|
|
NM_000492.4(CFTR):c.3139+1G>T
|
rs397508503
|
|
NM_000492.4(CFTR):c.3139+1del
|
rs780546355
|
|
NM_000492.4(CFTR):c.3139+25C>T
|
|
|
NM_000492.4(CFTR):c.3139+39del
|
rs1554392063
|
|
NM_000492.4(CFTR):c.3139+42A>G
|
|
|
NM_000492.4(CFTR):c.3139+9G>T
|
rs2116081422
|
|
NM_000492.4(CFTR):c.3139+9del
|
rs749651092
|
|
NM_000492.4(CFTR):c.3139G>A (p.Gly1047Ser)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3139G>C (p.Gly1047Arg)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3140-11A>G
|
|
|
NM_000492.4(CFTR):c.3140-16T>A
|
|
|
NM_000492.4(CFTR):c.3140-16T>C
|
|
|
NM_000492.4(CFTR):c.3140-17A>G
|
rs1383455542
|
|
NM_000492.4(CFTR):c.3140-1G>A
|
rs397508506
|
|
NM_000492.4(CFTR):c.3140-4A>G
|
rs397508507
|
|
NM_000492.4(CFTR):c.3140-9A>G
|
rs1792386089
|
|
NM_000492.4(CFTR):c.3141C>G (p.Gly1047=)
|
|
|
NM_000492.4(CFTR):c.3141_3468+1del
|
|
|
NM_000492.4(CFTR):c.3142A>C (p.Arg1048=)
|
|
|
NM_000492.4(CFTR):c.3146G>A (p.Ser1049Asn)
|
|
|
NM_000492.4(CFTR):c.3148C>A (p.Pro1050Thr)
|
|
|
NM_000492.4(CFTR):c.3148C>G (p.Pro1050Ala)
|
|
|
NM_000492.4(CFTR):c.3156C>T (p.Phe1052=)
|
|
|
NM_000492.4(CFTR):c.3157A>T (p.Thr1053Ser)
|
rs1792386620
|
|
NM_000492.4(CFTR):c.3159T>A (p.Thr1053=)
|
rs1792386675
|
|
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
|
rs397508510
|
|
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu)
|
rs1417435640
|
|
NM_000492.4(CFTR):c.3161del (p.His1054fs)
|
rs387906377
|
|
NM_000492.4(CFTR):c.3162T>A (p.His1054Gln)
|
|
|
NM_000492.4(CFTR):c.3162T>C (p.His1054=)
|
rs199990040
|
|
NM_000492.4(CFTR):c.3167T>C (p.Val1056Ala)
|
rs2116084150
|
|
NM_000492.4(CFTR):c.3168del (p.Thr1057fs)
|
|
|
NM_000492.4(CFTR):c.3174C>T (p.Ser1058=)
|
rs1792387133
|
|
NM_000492.4(CFTR):c.3175T>C (p.Leu1059=)
|
|
|
NM_000492.4(CFTR):c.3176T>G (p.Leu1059Ter)
|
rs397508512
|
|
NM_000492.4(CFTR):c.3178A>G (p.Lys1060Glu)
|
rs1244798983
|
|
NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr)
|
rs397508513
|
|
NM_000492.4(CFTR):c.3180del (p.Gly1061fs)
|
|
|
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
|
rs142394380
|
|
NM_000492.4(CFTR):c.3183A>G (p.Gly1061=)
|
rs2116084312
|
|
NM_000492.4(CFTR):c.3184C>T (p.Leu1062=)
|
|
|
NM_000492.4(CFTR):c.3184_3188dup (p.Trp1063fs)
|
rs387906366
|
|
NM_000492.4(CFTR):c.3185T>C (p.Leu1062Pro)
|
rs2116084329
|
|
NM_000492.4(CFTR):c.3185_3191del (p.Leu1062fs)
|
rs2116084282
|
|
NM_000492.4(CFTR):c.3186A>G (p.Leu1062=)
|
|
|
NM_000492.4(CFTR):c.3186A>T (p.Leu1062=)
|
|
|
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)
|
rs1562914641
|
|
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)
|
rs397508514
|
|
NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065fs)
|
rs1584822237
|
|
NM_000492.4(CFTR):c.3192A>T (p.Thr1064=)
|
|
|
NM_000492.4(CFTR):c.3192_3276del (p.Leu1065fs)
|
|
|
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser)
|
rs78194216
|
|
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)
|
rs121909019
|
|
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)
|
rs121909020
|
|
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro)
|
rs121909020
|
|
NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly)
|
rs1800114
|
|
NM_000492.4(CFTR):c.3202T>G (p.Phe1068Val)
|
|
|
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro)
|
rs78769542
|
|
NM_000492.4(CFTR):c.3210G>A (p.Arg1070=)
|
rs1792388976
|
|
NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter)
|
rs397508517
|
|
NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro)
|
rs121909037
|
|
NM_000492.4(CFTR):c.3213G>A (p.Gln1071=)
|
|
|
NM_000492.4(CFTR):c.3214C>T (p.Pro1072Ser)
|
rs1584822281
|
|
NM_000492.4(CFTR):c.3215C>A (p.Pro1072His)
|
|
|
NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs)
|
rs768963919
|
|
NM_000492.4(CFTR):c.3219C>T (p.Tyr1073=)
|
rs1792389293
|
|
NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu)
|
rs1258481099
|
|
NM_000492.4(CFTR):c.3226A>C (p.Thr1076Pro)
|
|
|
NM_000492.4(CFTR):c.3226A>G (p.Thr1076Ala)
|
|
|
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs)
|
rs397508518
|
|
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)
|
rs779177972
|
|
NM_000492.4(CFTR):c.3235C>T (p.His1079Tyr)
|
|
|
NM_000492.4(CFTR):c.3237C>T (p.His1079=)
|
rs2116084700
|
|
NM_000492.4(CFTR):c.3241G>C (p.Ala1081Pro)
|
rs397508521
|
|
NM_000492.4(CFTR):c.3247A>G (p.Asn1083Asp)
|
|
|
NM_000492.4(CFTR):c.3249T>A (p.Asn1083Lys)
|
rs1584822326
|
|
NM_000492.4(CFTR):c.3249T>C (p.Asn1083=)
|
|
|
NM_000492.4(CFTR):c.3254A>C (p.His1085Pro)
|
rs79635528
|
|
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)
|
rs79635528
|
|
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)
|
rs373043500
|
|
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)
|
rs373043500
|
|
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)
|
rs77958296
|
|
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro)
|
rs771259493
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs)
|
rs397508524
|
|
NM_000492.4(CFTR):c.3264del (p.Trp1089fs)
|
rs397508525
|
|
NM_000492.4(CFTR):c.3266G>T (p.Trp1089Leu)
|
|
|
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter)
|
rs150020260
|
|
NM_000492.4(CFTR):c.3270C>G (p.Phe1090Leu)
|
|
|
NM_000492.4(CFTR):c.3273G>A (p.Leu1091=)
|
|
|
NM_000492.4(CFTR):c.3273G>T (p.Leu1091Phe)
|
rs752753702
|
|
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)
|
rs121908761
|
|
NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)
|
|
|
NM_000492.4(CFTR):c.3278T>C (p.Leu1093Pro)
|
rs397508527
|
|
NM_000492.4(CFTR):c.3279G>T (p.Leu1093=)
|
|
|
NM_000492.4(CFTR):c.3280T>C (p.Ser1094Pro)
|
|
|
NM_000492.4(CFTR):c.3281C>G (p.Ser1094Ter)
|
|
|
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA
|
rs1554392248
|
|
NM_000492.4(CFTR):c.3285A>G (p.Thr1095=)
|
|
|
NM_000492.4(CFTR):c.3286C>T (p.Leu1096=)
|
|
|
NM_000492.4(CFTR):c.3287del (p.Leu1096fs)
|
rs397508529
|
|
NM_000492.4(CFTR):c.3288G>T (p.Leu1096=)
|
rs936512397
|
|
NM_000492.4(CFTR):c.3290G>C (p.Arg1097Pro)
|
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3292T>G (p.Trp1098Gly)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)
|
rs397508532
|
|
NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)
|
|
|
NM_000492.4(CFTR):c.3293G>T (p.Trp1098Leu)
|
|
|
NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3294del (p.Trp1098fs)
|
rs397508534
|
|
NM_000492.4(CFTR):c.3297C>T (p.Phe1099=)
|
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3301del (p.Gln1100_Met1101insTer)
|
rs2116085156
|
|
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)
|
rs36210737
|
|
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile)
|
rs777445862
|
|
NM_000492.4(CFTR):c.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly)
|
|
|
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)
|
rs397508536
|
|
NM_000492.4(CFTR):c.3306A>C (p.Arg1102Ser)
|
|
|
NM_000492.4(CFTR):c.3308T>G (p.Ile1103Arg)
|
|
|
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)
|
rs397508538
|
|
NM_000492.4(CFTR):c.3314T>G (p.Met1105Arg)
|
rs397508539
|
|
NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile)
|
rs1792392768
|
|
NM_000492.4(CFTR):c.3315del (p.Met1105fs)
|
rs397508540
|
|
NM_000492.4(CFTR):c.3318T>A (p.Ile1106=)
|
rs2116085302
|
|
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)
|
rs1584822486
|
|
NM_000492.4(CFTR):c.3322G>A (p.Val1108Ile)
|
|
|
NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs)
|
|
|
NM_000492.4(CFTR):c.3322del (p.Val1108fs)
|
rs2116085331
|
|
NM_000492.4(CFTR):c.3324C>A (p.Val1108=)
|
rs2116085344
|
|
NM_000492.4(CFTR):c.3324C>T (p.Val1108=)
|
rs2116085344
|
|
NM_000492.4(CFTR):c.3324del (p.Ile1109fs)
|
rs1554392282
|
|
NM_000492.4(CFTR):c.3326T>C (p.Ile1109Thr)
|
|
|
NM_000492.4(CFTR):c.3327C>T (p.Ile1109=)
|
rs568020045
|
|
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del)
|
rs1562914829
|
|
NM_000492.4(CFTR):c.3330C>T (p.Phe1110=)
|
rs1584822500
|
|
NM_000492.4(CFTR):c.3330del (p.Phe1111fs)
|
|
|
NM_000492.4(CFTR):c.3333C>T (p.Phe1111=)
|
rs144135742
|
|
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser)
|
rs1792393459
|
|
NM_000492.4(CFTR):c.3340G>C (p.Val1114Leu)
|
|
|
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs)
|
rs1562914838
|
|
NM_000492.4(CFTR):c.3349A>C (p.Ile1117Leu)
|
|
|
NM_000492.4(CFTR):c.3349A>G (p.Ile1117Val)
|
|
|
NM_000492.4(CFTR):c.3351_3352del (p.Ser1118fs)
|
|
|
NM_000492.4(CFTR):c.3352T>C (p.Ser1118Pro)
|
|
|
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3355A>T (p.Ile1119Phe)
|
|
|
NM_000492.4(CFTR):c.3356T>C (p.Ile1119Thr)
|
rs1562914851
|
|
NM_000492.4(CFTR):c.3357_3359delinsA (p.Leu1120fs)
|
|
|
NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del)
|
rs1554392295
|
|
NM_000492.4(CFTR):c.3364A>G (p.Thr1122Ala)
|
rs1584822533
|
|
NM_000492.4(CFTR):c.3367+10A>G
|
|
|
NM_000492.4(CFTR):c.3367+10A>T
|
rs2116085669
|
|
NM_000492.4(CFTR):c.3367+18_3367+23del
|
|
|
NM_000492.4(CFTR):c.3367+196C>T
|
rs28449716
|
|
NM_000492.4(CFTR):c.3367+19C>T
|
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3367+1G>T
|
|
|
NM_000492.4(CFTR):c.3367+201_3367+243del
|
|
|
NM_000492.4(CFTR):c.3367+214_3367+259del
|
rs149975806
|
|
NM_000492.4(CFTR):c.3367+215_3367+258del
|
|
|
NM_000492.4(CFTR):c.3367+222_3367+223insGT
|
rs2116087630
|
|
NM_000492.4(CFTR):c.3367+238_3367+259del
|
rs1283255059
|
|
NM_000492.4(CFTR):c.3367+2T>A
|
rs397508544
|
|
NM_000492.4(CFTR):c.3367+3A>G
|
rs1194763712
|
|
NM_000492.4(CFTR):c.3367+6A>G
|
rs397508545
|
|
NM_000492.4(CFTR):c.3367+8G>A
|
rs2116085662
|
|
NM_000492.4(CFTR):c.3367+9A>G
|
|
|
NM_000492.4(CFTR):c.3367G>C (p.Gly1123Arg)
|
rs397508546
|
|