NM_017950.4(CCDC40):c.207G>C (p.Val69=)
|
rs2289527
|
0.98631
|
NM_017950.4(CCDC40):c.1563-262T>C
|
rs4889952
|
0.81784
|
NM_017950.4(CCDC40):c.2832+332G>C
|
rs4889953
|
0.68083
|
NM_017950.4(CCDC40):c.2236-251A>G
|
rs2017601
|
0.66356
|
NM_017950.4(CCDC40):c.2450-89A>C
|
rs11150839
|
0.65974
|
NM_017950.4(CCDC40):c.2450-53G>A
|
rs11150840
|
0.65886
|
NM_017950.4(CCDC40):c.2450-265T>G
|
rs11150836
|
0.65857
|
NM_017950.4(CCDC40):c.2832+720G>C
|
rs9905685
|
0.65747
|
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)
|
rs35578653
|
0.52425
|
NM_017950.4(CCDC40):c.677-310T>C
|
rs3829605
|
0.44191
|
NM_017950.4(CCDC40):c.2711+78A>C
|
rs12942049
|
0.35816
|
NM_017950.4(CCDC40):c.3181-210T>C
|
rs55662397
|
0.35387
|
NM_017950.4(CCDC40):c.3181-186G>A
|
rs56176300
|
0.35288
|
NM_017950.4(CCDC40):c.3022-273C>T
|
rs58526201
|
0.35057
|
NM_017950.4(CCDC40):c.3180+125C>A
|
rs56968343
|
0.35033
|
NM_017950.4(CCDC40):c.553-41A>G
|
rs7207441
|
0.34994
|
NM_017950.4(CCDC40):c.676+292A>G
|
rs7211986
|
0.34992
|
NM_017950.4(CCDC40):c.676+13T>C
|
rs7212525
|
0.34974
|
NM_017950.4(CCDC40):c.856-91G>A
|
rs7219552
|
0.33412
|
NM_017950.4(CCDC40):c.676+218C>A
|
rs7223648
|
0.32971
|
NM_017950.4(CCDC40):c.676+307C>T
|
rs7223806
|
0.32968
|
NM_017950.4(CCDC40):c.677-137G>A
|
rs2289529
|
0.32932
|
NM_017950.4(CCDC40):c.1159+239C>A
|
rs9890752
|
0.32930
|
NM_017950.4(CCDC40):c.855+198C>G
|
rs28404913
|
0.32907
|
NM_017950.4(CCDC40):c.855+218A>C
|
rs28484809
|
0.32907
|
NM_017950.4(CCDC40):c.855+297A>G
|
rs28645791
|
0.32873
|
NM_017950.4(CCDC40):c.3180+45A>G
|
rs59252872
|
0.32210
|
NM_017950.4(CCDC40):c.30-231A>G
|
rs3764440
|
0.29643
|
NM_017950.4(CCDC40):c.2833-114C>T
|
rs1982244
|
0.25925
|
NM_017950.4(CCDC40):c.2832+313A>G
|
rs7210679
|
0.25232
|
NC_000017.11:g.80036451G>T
|
rs3764441
|
0.23449
|
NM_017950.4(CCDC40):c.3021+74C>A
|
rs1561810
|
0.23165
|
NM_017950.4(CCDC40):c.553-136G>T
|
rs77046309
|
0.22661
|
NM_017950.4(CCDC40):c.553-135C>T
|
rs80017238
|
0.22656
|
NM_017950.4(CCDC40):c.677-4C>G
|
rs2289530
|
0.19337
|
NM_017950.4(CCDC40):c.677-308G>A
|
rs3829604
|
0.19239
|
NM_017950.4(CCDC40):c.1159+12C>T
|
rs2289533
|
0.19106
|
NM_017950.4(CCDC40):c.29+58C>A
|
rs3752041
|
0.18699
|
NM_017950.4(CCDC40):c.3022-48C>T
|
rs72849388
|
0.18249
|
NM_017950.4(CCDC40):c.2832+283A>G
|
rs7210665
|
0.18041
|
NM_017950.4(CCDC40):c.2832+281A>G
|
rs7210664
|
0.17979
|
NM_017950.4(CCDC40):c.1562+214G>A
|
rs2289534
|
0.17920
|
NM_017950.4(CCDC40):c.1440+136C>T
|
rs11654770
|
0.17915
|
NM_017950.4(CCDC40):c.1990-110G>A
|
rs715041
|
0.14730
|
NM_017950.3(CCDC40):c.-49C>A
|
rs3752042
|
0.12603
|
NM_017950.4(CCDC40):c.30-80G>A
|
rs3764438
|
0.12574
|
NM_017950.4(CCDC40):c.30-191G>T
|
rs3764439
|
0.12565
|
NM_017950.4(CCDC40):c.2449+187T>G
|
rs57153705
|
0.11917
|
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)
|
rs60684213
|
0.11874
|
NM_017950.4(CCDC40):c.2832+701C>T
|
rs73436194
|
0.11658
|
NM_017950.4(CCDC40):c.2449+211G>A
|
rs73436179
|
0.11514
|
NM_017950.4(CCDC40):c.2449+94G>A
|
rs73436177
|
0.11503
|
NM_017950.4(CCDC40):c.1440+229C>T
|
rs66942325
|
0.10487
|
NM_017950.4(CCDC40):c.873C>T (p.Phe291=)
|
rs2289531
|
0.09951
|
NM_017950.4(CCDC40):c.1441-106A>G
|
rs80207190
|
0.09748
|
NM_017950.4(CCDC40):c.1563-237C>T
|
rs113095110
|
0.08706
|
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)
|
rs61749058
|
0.08699
|
NM_017950.4(CCDC40):c.3021+117G>A
|
rs12601244
|
0.07975
|
NM_017950.4(CCDC40):c.2450-132C>T
|
rs12601285
|
0.07928
|
NM_017950.4(CCDC40):c.2711+209G>A
|
rs112484891
|
0.07377
|
NM_017950.4(CCDC40):c.29+220C>T
|
rs3752040
|
0.06799
|
NM_017950.4(CCDC40):c.1562+33G>A
|
rs10083858
|
0.06324
|
NM_017950.4(CCDC40):c.677-188T>C
|
rs8074779
|
0.06276
|
NM_017950.4(CCDC40):c.93+18C>A
|
rs8074956
|
0.06246
|
NM_017950.3(CCDC40):c.-36C>T
|
rs73437681
|
0.05525
|
NM_017950.4(CCDC40):c.507G>A (p.Ser169=)
|
rs2885349
|
0.05290
|
NM_017950.4(CCDC40):c.552+174G>A
|
rs7502454
|
0.05257
|
NM_017950.4(CCDC40):c.553-17G>C
|
rs7223400
|
0.04712
|
NM_017950.4(CCDC40):c.1440+140C>A
|
rs75047487
|
0.04618
|
NM_017950.4(CCDC40):c.94-200A>G
|
rs142248358
|
0.04618
|
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)
|
rs61734950
|
0.04617
|
NM_017950.4(CCDC40):c.2712-96G>A
|
rs55987222
|
0.04313
|
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=)
|
rs1982243
|
0.02985
|
NM_017950.4(CCDC40):c.504G>A (p.Pro168=)
|
rs74000351
|
0.02786
|
NM_017950.4(CCDC40):c.1318-76T>C
|
rs78323211
|
0.02733
|
NM_017950.4(CCDC40):c.1562+266G>A
|
rs117430046
|
0.02418
|
NM_017950.4(CCDC40):c.3022-28G>A
|
rs74000392
|
0.02412
|
NM_017950.4(CCDC40):c.3021+24_3021+25del
|
rs139301500
|
0.02127
|
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)
|
rs117203086
|
0.01848
|
NM_017950.4(CCDC40):c.1441-314C>T
|
rs10083842
|
0.01826
|
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=)
|
rs61749027
|
0.01818
|
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr)
|
rs61998241
|
0.01690
|
NM_017950.4(CCDC40):c.855+45G>A
|
rs114589110
|
0.01638
|
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)
|
rs74692882
|
0.01622
|
NM_017950.4(CCDC40):c.676+108T>C
|
rs114632360
|
0.01622
|
NM_017950.4(CCDC40):c.1562+308T>C
|
rs115155178
|
0.01614
|
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)
|
rs61739354
|
0.01613
|
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)
|
rs116824266
|
0.01523
|
NM_017950.4(CCDC40):c.2832+349A>G
|
rs371158080
|
0.01506
|
NM_017950.4(CCDC40):c.1160-57G>C
|
rs146646353
|
0.01444
|
NM_017950.4(CCDC40):c.3180+249T>C
|
rs77024302
|
0.01120
|
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)
|
rs118143944
|
0.00983
|
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=)
|
rs4889815
|
0.00968
|
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)
|
rs61734951
|
0.00943
|
NM_017950.4(CCDC40):c.2832+413A>G
|
rs374493149
|
0.00730
|
NM_017950.4(CCDC40):c.30-57G>A
|
rs146081939
|
0.00637
|
NM_017950.4(CCDC40):c.2832+466_2832+467del
|
rs570440845
|
0.00603
|
NM_017950.4(CCDC40):c.1317+90C>T
|
rs114988722
|
0.00586
|
NM_017950.4(CCDC40):c.1441-18C>G
|
rs181295177
|
0.00530
|
NM_017950.4(CCDC40):c.2832+20G>A
|
rs78493584
|
0.00516
|
NM_017950.4(CCDC40):c.3181-32T>C
|
rs147702876
|
0.00503
|
NM_017950.4(CCDC40):c.630C>T (p.Ser210=)
|
rs117419007
|
0.00481
|
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His)
|
rs183809462
|
0.00395
|
NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr)
|
rs116795025
|
0.00354
|
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=)
|
rs186591691
|
0.00309
|
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn)
|
rs115850223
|
0.00301
|
NM_017950.4(CCDC40):c.93+238G>A
|
rs143175626
|
0.00300
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
NM_017950.4(CCDC40):c.2832+463_2832+476del
|
rs781279746
|
0.00156
|
NM_017950.4(CCDC40):c.2832+491C>A
|
rs1280184366
|
0.00152
|
NM_017950.4(CCDC40):c.856-18G>A
|
rs189118723
|
0.00151
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
NM_017950.4(CCDC40):c.850G>C (p.Asp284His)
|
rs201042940
|
0.00099
|
NM_017950.4(CCDC40):c.1562+2018C>T
|
rs562415439
|
0.00092
|
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=)
|
rs78945041
|
0.00076
|
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)
|
rs200958035
|
0.00062
|
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met)
|
rs563467821
|
0.00039
|
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=)
|
rs146360951
|
0.00034
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)
|
rs200701665
|
0.00016
|
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)
|
rs201815496
|
0.00016
|
NM_017950.4(CCDC40):c.772A>G (p.Met258Val)
|
rs200614903
|
0.00014
|
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His)
|
rs373746597
|
0.00012
|
NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr)
|
rs202123909
|
0.00011
|
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)
|
rs746632559
|
0.00009
|
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met)
|
rs376363442
|
0.00006
|
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)
|
rs587778819
|
0.00004
|
NM_017950.4(CCDC40):c.855+4A>G
|
rs138001923
|
0.00004
|
NM_017950.4(CCDC40):c.940-7G>A
|
rs727504972
|
0.00004
|
NM_017950.4(CCDC40):c.189A>C (p.Ala63=)
|
rs1469935603
|
0.00003
|
NM_017950.4(CCDC40):c.2939A>T (p.Lys980Met)
|
rs201104817
|
0.00003
|
NM_017950.4(CCDC40):c.3012C>T (p.Asp1004=)
|
rs372975825
|
0.00003
|
NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu)
|
rs769458274
|
0.00003
|
NM_017950.4(CCDC40):c.1814T>C (p.Met605Thr)
|
rs767290092
|
0.00002
|
NM_017950.4(CCDC40):c.1056C>T (p.His352=)
|
rs771256494
|
0.00001
|
NM_017950.4(CCDC40):c.1533G>A (p.Glu511=)
|
rs1230162921
|
0.00001
|
NM_017950.4(CCDC40):c.1590C>T (p.Thr530=)
|
rs750134735
|
0.00001
|
NM_017950.4(CCDC40):c.200G>A (p.Gly67Glu)
|
rs794727512
|
0.00001
|
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val)
|
rs376911979
|
0.00001
|
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln)
|
rs755608579
|
0.00001
|
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser)
|
rs564504598
|
0.00001
|
GRCh37/hg19 17q25.3(chr17:78058431-78074446)x1
|
|
|
NM_017950.4(CCDC40):c.1085A>G (p.Lys362Arg)
|
rs2143617296
|
|
NM_017950.4(CCDC40):c.1440+1G>C
|
rs886042621
|
|
NM_017950.4(CCDC40):c.1441-137C>A
|
rs78696842
|
|
NM_017950.4(CCDC40):c.1467C>A (p.Ser489Arg)
|
rs200154414
|
|
NM_017950.4(CCDC40):c.1481G>A (p.Arg494His)
|
|
|
NM_017950.4(CCDC40):c.1562+124G>A
|
|
|
NM_017950.4(CCDC40):c.1562+2003C>A
|
|
|
NM_017950.4(CCDC40):c.1562+2025G>A
|
|
|
NM_017950.4(CCDC40):c.1562+64C>T
|
rs56126512
|
|
NM_017950.4(CCDC40):c.1563-158AAAT[10]
|
rs60850594
|
|
NM_017950.4(CCDC40):c.1563-158AAAT[11]
|
rs60850594
|
|
NM_017950.4(CCDC40):c.1563-158AAAT[12]
|
rs60850594
|
|
NM_017950.4(CCDC40):c.1563-158AAAT[13]
|
rs60850594
|
|
NM_017950.4(CCDC40):c.1563-158AAAT[9]
|
rs60850594
|
|
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg)
|
rs199786478
|
|
NM_017950.4(CCDC40):c.1806+5G>A
|
|
|
NM_017950.4(CCDC40):c.1855C>T (p.Gln619Ter)
|
rs2143735173
|
|
NM_017950.4(CCDC40):c.1885G>C (p.Asp629His)
|
rs2038461062
|
|
NM_017950.4(CCDC40):c.1989+192C>T
|
rs79483216
|
|
NM_017950.4(CCDC40):c.1990-10A>G
|
rs1598538379
|
|
NM_017950.4(CCDC40):c.2205G>A (p.Lys735=)
|
rs1598538834
|
|
NM_017950.4(CCDC40):c.2450-136G>C
|
rs11150838
|
|
NM_017950.4(CCDC40):c.2450-188_2450-184del
|
rs57113516
|
|
NM_017950.4(CCDC40):c.2712-1G>T
|
rs370706991
|
|
NM_017950.4(CCDC40):c.2712-255TC[4]
|
rs71163917
|
|
NM_017950.4(CCDC40):c.2832+274A>G
|
rs7210658
|
|
NM_017950.4(CCDC40):c.2832+274_2832+337del
|
rs2143760779
|
|
NM_017950.4(CCDC40):c.2832+297G>A
|
rs1187849857
|
|
NM_017950.4(CCDC40):c.2832+304A>G
|
|
|
NM_017950.4(CCDC40):c.2832+315G>A
|
rs567724903
|
|
NM_017950.4(CCDC40):c.2832+332_2832+363del
|
rs1567813085
|
|
NM_017950.4(CCDC40):c.2832+332_2832+395del
|
rs1567813101
|
|
NM_017950.4(CCDC40):c.2832+381G>A
|
rs7207166
|
|
NM_017950.4(CCDC40):c.2832+381_2832+412del
|
rs1384333635
|
|
NM_017950.4(CCDC40):c.2832+381_2832+473del
|
rs1567813490
|
|
NM_017950.4(CCDC40):c.2832+385_2832+470del
|
rs2143762791
|
|
NM_017950.4(CCDC40):c.2832+462A>C
|
|
|
NM_017950.4(CCDC40):c.2832+462_2832+463insCAC
|
rs10693712
|
|
NM_017950.4(CCDC40):c.2832+462_2832+490del
|
rs758946774
|
|
NM_017950.4(CCDC40):c.2832+470G>A
|
|
|
NM_017950.4(CCDC40):c.2832+535_2832+597del
|
rs71163918
|
|
NM_017950.4(CCDC40):c.2832+578_2832+609del
|
rs753396712
|
|
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)
|
rs61686936
|
|
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu)
|
rs61686936
|
|
NM_017950.4(CCDC40):c.2998C>T (p.Arg1000Trp)
|
|
|
NM_017950.4(CCDC40):c.3022-146G>A
|
|
|
NM_017950.4(CCDC40):c.3181-103C>T
|
|
|
NM_017950.4(CCDC40):c.3181-125G>A
|
rs55990144
|
|
NM_017950.4(CCDC40):c.3181-129C>T
|
|
|
NM_017950.4(CCDC40):c.3181-225dup
|
rs879645135
|
|
NM_017950.4(CCDC40):c.3181-326T>G
|
rs56120040
|
|
NM_017950.4(CCDC40):c.3229G>A (p.Ala1077Thr)
|
|
|
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter)
|
rs374909386
|
|
NM_017950.4(CCDC40):c.550T>C (p.Leu184=)
|
|
|
NM_017950.4(CCDC40):c.552+278G>A
|
rs7503000
|
|
NM_017950.4(CCDC40):c.553-137G>T
|
rs76104475
|
|
NM_017950.4(CCDC40):c.553-5C>T
|
rs1598483962
|
|
NM_017950.4(CCDC40):c.676+202C>T
|
rs78967608
|
|
NM_017950.4(CCDC40):c.676+328A>G
|
rs7212117
|
|
NM_017950.4(CCDC40):c.676+59T>C
|
rs7212643
|
|
NM_017950.4(CCDC40):c.855+1G>A
|
rs1346603171
|
|
NM_017950.4(CCDC40):c.93+195del
|
rs201977406
|
|
NM_017950.4(CCDC40):c.93+215C>T
|
rs138108510
|
|
NM_017950.4(CCDC40):c.93+4A>G
|
|
|