NM_017950.4(CCDC40):c.207G>C (p.Val69=)
|
rs2289527
|
0.98631
|
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)
|
rs35578653
|
0.52425
|
NM_017950.4(CCDC40):c.676+13T>C
|
rs7212525
|
0.34974
|
NM_017950.4(CCDC40):c.677-4C>G
|
rs2289530
|
0.19337
|
NM_017950.4(CCDC40):c.1159+12C>T
|
rs2289533
|
0.19106
|
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)
|
rs60684213
|
0.11874
|
NM_017950.4(CCDC40):c.873C>T (p.Phe291=)
|
rs2289531
|
0.09951
|
NM_017950.4(CCDC40):c.93+18C>A
|
rs8074956
|
0.06246
|
NM_017950.4(CCDC40):c.507G>A (p.Ser169=)
|
rs2885349
|
0.05290
|
NM_017950.4(CCDC40):c.553-17G>C
|
rs7223400
|
0.04712
|
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)
|
rs61734950
|
0.04617
|
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.2255T>C (p.Leu752Pro)
|
rs117203086
|
0.01848
|
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.1131C>T (p.Cys377=)
|
rs74692882
|
0.01622
|
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.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.2608C>T (p.Arg870Cys)
|
rs61749025
|
0.00769
|
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)
|
rs62000409
|
0.00649
|
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.630C>T (p.Ser210=)
|
rs117419007
|
0.00481
|
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn)
|
rs150615436
|
0.00414
|
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His)
|
rs183809462
|
0.00395
|
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro)
|
rs148900528
|
0.00366
|
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
|
rs145595957
|
0.00365
|
NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr)
|
rs116795025
|
0.00354
|
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr)
|
rs141185078
|
0.00327
|
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.2236-15G>A
|
rs148674510
|
0.00295
|
NM_017950.4(CCDC40):c.2785G>A (p.Gly929Ser)
|
rs59896146
|
0.00264
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=)
|
rs145013523
|
0.00203
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg)
|
rs200815406
|
0.00200
|
NM_017950.4(CCDC40):c.180G>A (p.Ala60=)
|
rs185006459
|
0.00183
|
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr)
|
rs141343307
|
0.00161
|
NM_017950.4(CCDC40):c.1440+16G>A
|
rs192026179
|
0.00155
|
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.648C>T (p.Asp216=)
|
rs375350606
|
0.00113
|
NM_017950.4(CCDC40):c.850G>C (p.Asp284His)
|
rs201042940
|
0.00099
|
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=)
|
rs145998578
|
0.00083
|
NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val)
|
rs201126001
|
0.00081
|
NM_017950.4(CCDC40):c.3021+12C>T
|
rs377169531
|
0.00079
|
NM_017950.4(CCDC40):c.1722C>A (p.Thr574=)
|
rs201559168
|
0.00078
|
NM_017950.4(CCDC40):c.1806+8C>T
|
rs182104049
|
0.00076
|
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=)
|
rs78945041
|
0.00076
|
NM_017950.4(CCDC40):c.699T>C (p.Asp233=)
|
rs9893189
|
0.00069
|
NM_017950.4(CCDC40):c.51G>A (p.Ser17=)
|
rs141650385
|
0.00063
|
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)
|
rs200958035
|
0.00062
|
NM_017950.4(CCDC40):c.2061G>A (p.Arg687=)
|
rs189617808
|
0.00058
|
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=)
|
rs72849355
|
0.00054
|
NM_017950.4(CCDC40):c.552G>A (p.Leu184=)
|
rs141588728
|
0.00044
|
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met)
|
rs563467821
|
0.00039
|
NM_017950.4(CCDC40):c.3130T>A (p.Phe1044Ile)
|
rs377222257
|
0.00038
|
NM_017950.4(CCDC40):c.1824G>A (p.Thr608=)
|
rs371383125
|
0.00036
|
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=)
|
rs375199947
|
0.00034
|
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=)
|
rs146360951
|
0.00034
|
NM_017950.4(CCDC40):c.32C>G (p.Ser11Cys)
|
rs111822347
|
0.00034
|
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser)
|
rs201739201
|
0.00031
|
NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr)
|
rs199564182
|
0.00030
|
NM_017950.4(CCDC40):c.1445G>A (p.Cys482Tyr)
|
rs367601192
|
0.00030
|
NM_017950.4(CCDC40):c.1109G>A (p.Arg370His)
|
rs77027689
|
0.00029
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys)
|
rs2289532
|
0.00028
|
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly)
|
rs139435501
|
0.00025
|
NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn)
|
rs370948871
|
0.00024
|
NM_017950.4(CCDC40):c.384A>G (p.Ala128=)
|
rs375586063
|
0.00024
|
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr)
|
rs185157579
|
0.00022
|
NM_017950.4(CCDC40):c.1379T>A (p.Phe460Tyr)
|
rs201576715
|
0.00021
|
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)
|
rs187993089
|
0.00021
|
NM_017950.4(CCDC40):c.1456G>A (p.Asp486Asn)
|
rs375800869
|
0.00020
|
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)
|
rs377219039
|
0.00020
|
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln)
|
rs200902434
|
0.00019
|
NM_017950.4(CCDC40):c.1025A>G (p.Gln342Arg)
|
rs201057426
|
0.00018
|
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile)
|
rs200292678
|
0.00018
|
NM_017950.4(CCDC40):c.1067C>T (p.Ser356Leu)
|
rs200448007
|
0.00016
|
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)
|
rs200701665
|
0.00016
|
NM_017950.4(CCDC40):c.1800C>G (p.Asp600Glu)
|
rs965506812
|
0.00016
|
NM_017950.4(CCDC40):c.1807-10T>G
|
rs369273325
|
0.00016
|
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp)
|
rs200551690
|
0.00016
|
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)
|
rs201166295
|
0.00016
|
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=)
|
rs202075842
|
0.00016
|
NM_017950.4(CCDC40):c.2601G>A (p.Glu867=)
|
rs200841842
|
0.00016
|
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)
|
rs201815496
|
0.00016
|
NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys)
|
rs758247990
|
0.00016
|
NM_017950.4(CCDC40):c.38C>T (p.Pro13Leu)
|
rs541172966
|
0.00015
|
NM_017950.4(CCDC40):c.1949A>G (p.Asn650Ser)
|
rs201064110
|
0.00014
|
NM_017950.4(CCDC40):c.2159C>T (p.Thr720Met)
|
rs201407989
|
0.00014
|
NM_017950.4(CCDC40):c.772A>G (p.Met258Val)
|
rs200614903
|
0.00014
|
NM_017950.4(CCDC40):c.1317+20C>T
|
rs372184999
|
0.00013
|
NM_017950.4(CCDC40):c.2156G>A (p.Arg719His)
|
rs572440259
|
0.00013
|
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His)
|
rs373746597
|
0.00012
|
NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp)
|
rs201858385
|
0.00012
|
NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr)
|
rs202123909
|
0.00011
|
NM_017950.4(CCDC40):c.1221C>T (p.Ile407=)
|
rs760734578
|
0.00011
|
NM_017950.4(CCDC40):c.3021+13G>A
|
rs762011731
|
0.00011
|
NM_017950.4(CCDC40):c.3348C>T (p.Asp1116=)
|
rs377559639
|
0.00011
|
NM_017950.4(CCDC40):c.1843C>T (p.Arg615Cys)
|
rs763700391
|
0.00010
|
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys)
|
rs199850214
|
0.00010
|
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys)
|
rs202220442
|
0.00010
|
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His)
|
rs201293301
|
0.00010
|
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=)
|
rs79588289
|
0.00010
|
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=)
|
rs372856318
|
0.00010
|
NM_017950.4(CCDC40):c.661G>A (p.Val221Ile)
|
rs371890970
|
0.00010
|
NM_017950.4(CCDC40):c.666G>A (p.Ser222=)
|
rs199671771
|
0.00010
|
NM_017950.4(CCDC40):c.696C>T (p.Pro232=)
|
rs200710012
|
0.00010
|
NM_017950.4(CCDC40):c.966C>T (p.Ala322=)
|
rs369089505
|
0.00010
|
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr)
|
rs371071557
|
0.00009
|
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met)
|
rs200902099
|
0.00009
|
NM_017950.4(CCDC40):c.1563-15G>A
|
rs752972291
|
0.00009
|
NM_017950.4(CCDC40):c.2235+15A>G
|
rs566067180
|
0.00009
|
NM_017950.4(CCDC40):c.29+11C>G
|
rs769092437
|
0.00009
|
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)
|
rs746632559
|
0.00009
|
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=)
|
rs377156300
|
0.00008
|
NM_017950.4(CCDC40):c.1591G>A (p.Asp531Asn)
|
rs758243927
|
0.00008
|
NM_017950.4(CCDC40):c.1806+15G>A
|
rs767093580
|
0.00008
|
NM_017950.4(CCDC40):c.2325G>A (p.Val775=)
|
rs1483877024
|
0.00008
|
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln)
|
rs369512832
|
0.00008
|
NM_017950.4(CCDC40):c.763G>C (p.Glu255Gln)
|
rs763892619
|
0.00008
|
NM_017950.4(CCDC40):c.1164G>A (p.Ala388=)
|
rs367861877
|
0.00007
|
NM_017950.4(CCDC40):c.1210A>G (p.Met404Val)
|
rs774090634
|
0.00007
|
NM_017950.4(CCDC40):c.1441-8G>T
|
rs762319130
|
0.00007
|
NM_017950.4(CCDC40):c.2104G>A (p.Val702Met)
|
rs748948064
|
0.00007
|
NM_017950.4(CCDC40):c.2423T>C (p.Met808Thr)
|
rs780626544
|
0.00007
|
NM_017950.4(CCDC40):c.660C>T (p.Phe220=)
|
rs200678214
|
0.00007
|
NM_017950.4(CCDC40):c.1127C>G (p.Thr376Ser)
|
rs372392201
|
0.00006
|
NM_017950.4(CCDC40):c.113A>G (p.Asp38Gly)
|
rs1060501718
|
0.00006
|
NM_017950.4(CCDC40):c.1292G>A (p.Arg431Gln)
|
rs766914160
|
0.00006
|
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr)
|
rs372976809
|
0.00006
|
NM_017950.4(CCDC40):c.1562+12C>T
|
rs369729537
|
0.00006
|
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met)
|
rs376363442
|
0.00006
|
NM_017950.4(CCDC40):c.1990-6A>G
|
rs1055042616
|
0.00006
|
NM_017950.4(CCDC40):c.2068G>A (p.Ala690Thr)
|
rs201907038
|
0.00006
|
NM_017950.4(CCDC40):c.2449+19G>A
|
rs537011469
|
0.00006
|
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His)
|
rs373717036
|
0.00006
|
NM_017950.4(CCDC40):c.2616G>A (p.Leu872=)
|
rs372369514
|
0.00006
|
NM_017950.4(CCDC40):c.3288G>A (p.Glu1096=)
|
rs373348755
|
0.00006
|
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=)
|
rs374909386
|
0.00006
|
NM_017950.4(CCDC40):c.39G>A (p.Pro13=)
|
rs777639251
|
0.00006
|
NM_017950.4(CCDC40):c.636C>T (p.Ile212=)
|
rs754379326
|
0.00006
|
NM_017950.4(CCDC40):c.1159+9A>G
|
rs754557686
|
0.00005
|
NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser)
|
rs936824026
|
0.00005
|
NM_017950.4(CCDC40):c.1806+9G>A
|
rs766278175
|
0.00005
|
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=)
|
rs571288423
|
0.00005
|
NM_017950.4(CCDC40):c.1989+19G>A
|
rs768348648
|
0.00005
|
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=)
|
rs573028412
|
0.00005
|
NM_017950.4(CCDC40):c.3250G>A (p.Val1084Met)
|
rs546314844
|
0.00005
|
NM_017950.4(CCDC40):c.994T>C (p.Tyr332His)
|
rs371604414
|
0.00005
|
NM_017950.4(CCDC40):c.1160-10C>T
|
rs757777653
|
0.00004
|
NM_017950.4(CCDC40):c.1761G>A (p.Arg587=)
|
rs560402881
|
0.00004
|
NM_017950.4(CCDC40):c.2377G>A (p.Glu793Lys)
|
rs367812804
|
0.00004
|
NM_017950.4(CCDC40):c.23C>G (p.Ala8Gly)
|
rs751298635
|
0.00004
|
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)
|
rs587778819
|
0.00004
|
NM_017950.4(CCDC40):c.2853G>A (p.Leu951=)
|
rs768280461
|
0.00004
|
NM_017950.4(CCDC40):c.2876G>A (p.Arg959His)
|
rs369114517
|
0.00004
|
NM_017950.4(CCDC40):c.29+7C>G
|
rs558574170
|
0.00004
|
NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys)
|
rs761769193
|
0.00004
|
NM_017950.4(CCDC40):c.3180+6C>G
|
rs753716586
|
0.00004
|
NM_017950.4(CCDC40):c.3181-15T>C
|
rs376546339
|
0.00004
|
NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln)
|
rs771414681
|
0.00004
|
NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu)
|
rs369066468
|
0.00004
|
NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln)
|
rs572093892
|
0.00004
|
NM_017950.4(CCDC40):c.637G>A (p.Glu213Lys)
|
rs372360189
|
0.00004
|
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala)
|
rs760951742
|
0.00004
|
NM_017950.4(CCDC40):c.855+4A>G
|
rs138001923
|
0.00004
|
NM_017950.4(CCDC40):c.882C>T (p.Ala294=)
|
rs528463057
|
0.00004
|
NM_017950.4(CCDC40):c.910G>A (p.Glu304Lys)
|
rs757404529
|
0.00004
|
NM_017950.4(CCDC40):c.940-7G>A
|
rs727504972
|
0.00004
|
NM_017950.4(CCDC40):c.1458C>T (p.Asp486=)
|
rs752463994
|
0.00003
|
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His)
|
rs757879326
|
0.00003
|
NM_017950.4(CCDC40):c.189A>C (p.Ala63=)
|
rs1469935603
|
0.00003
|
NM_017950.4(CCDC40):c.2013C>T (p.Asn671=)
|
rs375603538
|
0.00003
|
NM_017950.4(CCDC40):c.21G>A (p.Ala7=)
|
rs766369570
|
0.00003
|
NM_017950.4(CCDC40):c.2460G>A (p.Glu820=)
|
rs369702545
|
0.00003
|
NM_017950.4(CCDC40):c.2619+9G>A
|
rs752961530
|
0.00003
|
NM_017950.4(CCDC40):c.2800C>T (p.Arg934Trp)
|
rs775749296
|
0.00003
|
NM_017950.4(CCDC40):c.2925C>T (p.Ala975=)
|
rs776232255
|
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.3016C>T (p.Arg1006Cys)
|
rs553354727
|
0.00003
|
NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu)
|
rs769458274
|
0.00003
|
NM_017950.4(CCDC40):c.3258G>C (p.Leu1086=)
|
rs759098835
|
0.00003
|
NM_017950.4(CCDC40):c.3262C>T (p.Arg1088Cys)
|
rs766993149
|
0.00003
|
NM_017950.4(CCDC40):c.3337C>T (p.Arg1113Cys)
|
rs201250105
|
0.00003
|
NM_017950.4(CCDC40):c.336G>A (p.Thr112=)
|
rs539062213
|
0.00003
|
NM_017950.4(CCDC40):c.3409G>A (p.Glu1137Lys)
|
rs774630271
|
0.00003
|
NM_017950.4(CCDC40):c.438C>T (p.Thr146=)
|
rs147879748
|
0.00003
|
NM_017950.4(CCDC40):c.676+11C>G
|
rs761925173
|
0.00003
|
NM_017950.4(CCDC40):c.677-8C>T
|
rs762961824
|
0.00003
|
NM_017950.4(CCDC40):c.1073dup (p.Arg359fs)
|
rs781507988
|
0.00002
|
NM_017950.4(CCDC40):c.1200T>A (p.His400Gln)
|
rs773046353
|
0.00002
|
NM_017950.4(CCDC40):c.1280C>T (p.Thr427Met)
|
rs370720427
|
0.00002
|
NM_017950.4(CCDC40):c.1409A>G (p.Asp470Gly)
|
rs754833822
|
0.00002
|
NM_017950.4(CCDC40):c.1415G>A (p.Arg472Gln)
|
rs780647441
|
0.00002
|
NM_017950.4(CCDC40):c.141C>T (p.Val47=)
|
rs756511342
|
0.00002
|
NM_017950.4(CCDC40):c.1564G>A (p.Gly522Arg)
|
rs764252103
|
0.00002
|
NM_017950.4(CCDC40):c.2116A>G (p.Asn706Asp)
|
rs770751519
|
0.00002
|
NM_017950.4(CCDC40):c.2192A>G (p.Asn731Ser)
|
rs376612893
|
0.00002
|
NM_017950.4(CCDC40):c.2292C>T (p.Asp764=)
|
rs758047721
|
0.00002
|
NM_017950.4(CCDC40):c.2298C>T (p.His766=)
|
rs754496723
|
0.00002
|
NM_017950.4(CCDC40):c.2309C>T (p.Ala770Val)
|
rs749795585
|
0.00002
|
NM_017950.4(CCDC40):c.2328C>T (p.Thr776=)
|
rs1225610254
|
0.00002
|
NM_017950.4(CCDC40):c.2551C>T (p.Arg851Trp)
|
rs774273644
|
0.00002
|
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu)
|
rs367596393
|
0.00002
|
NM_017950.4(CCDC40):c.2652C>G (p.Asp884Glu)
|
rs368398257
|
0.00002
|
NM_017950.4(CCDC40):c.2962C>T (p.Arg988Cys)
|
rs757374609
|
0.00002
|
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=)
|
rs199575834
|
0.00002
|
NM_017950.4(CCDC40):c.3021+8G>A
|
rs1434081760
|
0.00002
|
NM_017950.4(CCDC40):c.3045C>T (p.Thr1015=)
|
rs1474341938
|
0.00002
|
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=)
|
rs534912798
|
0.00002
|
NM_017950.4(CCDC40):c.399C>T (p.Ser133=)
|
rs371207249
|
0.00002
|
NM_017950.4(CCDC40):c.553-3T>C
|
rs779799024
|
0.00002
|
NM_017950.4(CCDC40):c.592A>G (p.Met198Val)
|
rs774843139
|
0.00002
|
NM_017950.4(CCDC40):c.655G>A (p.Glu219Lys)
|
rs1277342777
|
0.00002
|
NM_017950.4(CCDC40):c.759C>T (p.Thr253=)
|
rs183808038
|
0.00002
|
NM_017950.4(CCDC40):c.831G>A (p.Gln277=)
|
rs771932934
|
0.00002
|
NM_017950.4(CCDC40):c.929T>A (p.Leu310His)
|
rs1209777694
|
0.00002
|
NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln)
|
rs114740534
|
0.00002
|
NM_017950.4(CCDC40):c.1030C>G (p.Leu344Val)
|
rs374337192
|
0.00001
|
NM_017950.4(CCDC40):c.1056C>T (p.His352=)
|
rs771256494
|
0.00001
|
NM_017950.4(CCDC40):c.1075C>T (p.Arg359Cys)
|
rs370338926
|
0.00001
|
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys)
|
rs758068198
|
0.00001
|
NM_017950.4(CCDC40):c.1160-9G>A
|
rs779328167
|
0.00001
|
NM_017950.4(CCDC40):c.1239C>T (p.Asp413=)
|
rs751991087
|
0.00001
|
NM_017950.4(CCDC40):c.1240G>A (p.Asp414Asn)
|
rs755164687
|
0.00001
|
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys)
|
rs1489341724
|
0.00001
|
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)
|
rs371595543
|
0.00001
|
NM_017950.4(CCDC40):c.1413C>A (p.Thr471=)
|
rs2037824553
|
0.00001
|
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser)
|
rs2289526
|
0.00001
|
NM_017950.4(CCDC40):c.1509G>C (p.Leu503=)
|
rs200124291
|
0.00001
|
NM_017950.4(CCDC40):c.1512G>A (p.Val504=)
|
rs1312465619
|
0.00001
|
NM_017950.4(CCDC40):c.1525C>T (p.Arg509Cys)
|
rs749901313
|
0.00001
|
NM_017950.4(CCDC40):c.1528G>A (p.Asp510Asn)
|
rs1449822865
|
0.00001
|
NM_017950.4(CCDC40):c.1533G>A (p.Glu511=)
|
rs1230162921
|
0.00001
|
NM_017950.4(CCDC40):c.1593C>T (p.Asp531=)
|
rs746661400
|
0.00001
|
NM_017950.4(CCDC40):c.1603G>A (p.Glu535Lys)
|
rs201164121
|
0.00001
|
NM_017950.4(CCDC40):c.1645G>A (p.Glu549Lys)
|
rs1414723148
|
0.00001
|
NM_017950.4(CCDC40):c.1670G>A (p.Arg557Gln)
|
rs200236937
|
0.00001
|
NM_017950.4(CCDC40):c.1687A>G (p.Thr563Ala)
|
rs780848862
|
0.00001
|
NM_017950.4(CCDC40):c.168C>T (p.Val56=)
|
rs770942016
|
0.00001
|
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn)
|
rs202093340
|
0.00001
|
NM_017950.4(CCDC40):c.1726C>G (p.Gln576Glu)
|
rs864622323
|
0.00001
|
NM_017950.4(CCDC40):c.1804C>A (p.Leu602Met)
|
rs1213836538
|
0.00001
|
NM_017950.4(CCDC40):c.1884G>A (p.Thr628=)
|
rs748572237
|
0.00001
|
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
|
rs759468416
|
0.00001
|
NM_017950.4(CCDC40):c.2014G>A (p.Gly672Ser)
|
rs769532664
|
0.00001
|
NM_017950.4(CCDC40):c.2051C>T (p.Thr684Ile)
|
rs200542971
|
0.00001
|
NM_017950.4(CCDC40):c.2118C>T (p.Asn706=)
|
rs773715618
|
0.00001
|
NM_017950.4(CCDC40):c.2124C>T (p.Leu708=)
|
rs1598538668
|
0.00001
|
NM_017950.4(CCDC40):c.2152C>T (p.Arg718Trp)
|
rs368063104
|
0.00001
|
NM_017950.4(CCDC40):c.2216G>A (p.Arg739Gln)
|
rs774558527
|
0.00001
|
NM_017950.4(CCDC40):c.2310G>A (p.Ala770=)
|
rs376945782
|
0.00001
|
NM_017950.4(CCDC40):c.2322G>A (p.Gln774=)
|
rs1327058477
|
0.00001
|
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter)
|
rs747233125
|
0.00001
|
NM_017950.4(CCDC40):c.2456T>C (p.Ile819Thr)
|
rs1316337946
|
0.00001
|
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln)
|
rs755608579
|
0.00001
|
NM_017950.4(CCDC40):c.258T>C (p.Tyr86=)
|
rs745925890
|
0.00001
|
NM_017950.4(CCDC40):c.2724G>A (p.Met908Ile)
|
rs1211135006
|
0.00001
|
NM_017950.4(CCDC40):c.2731G>A (p.Glu911Lys)
|
rs993641369
|
0.00001
|
NM_017950.4(CCDC40):c.2734A>G (p.Lys912Glu)
|
rs756183009
|
0.00001
|
NM_017950.4(CCDC40):c.2762G>A (p.Arg921His)
|
rs745319642
|
0.00001
|
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser)
|
rs564504598
|
0.00001
|
NM_017950.4(CCDC40):c.2823C>G (p.His941Gln)
|
rs751091185
|
0.00001
|
NM_017950.4(CCDC40):c.2899C>T (p.Arg967Cys)
|
rs1483239449
|
0.00001
|
NM_017950.4(CCDC40):c.29+5G>A
|
rs934195206
|
0.00001
|
NM_017950.4(CCDC40):c.29+8G>A
|
rs772706089
|
0.00001
|
NM_017950.4(CCDC40):c.2955G>A (p.Ala985=)
|
rs201511980
|
0.00001
|
NM_017950.4(CCDC40):c.3097A>T (p.Lys1033Ter)
|
rs863224519
|
0.00001
|
NM_017950.4(CCDC40):c.3142G>A (p.Glu1048Lys)
|
rs997113449
|
0.00001
|
NM_017950.4(CCDC40):c.3147C>T (p.Ala1049=)
|
rs1028095921
|
0.00001
|
NM_017950.4(CCDC40):c.3148G>A (p.Asp1050Asn)
|
rs111550470
|
0.00001
|
NM_017950.4(CCDC40):c.315G>A (p.Gly105=)
|
rs1398449246
|
0.00001
|
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter)
|
rs1312712049
|
0.00001
|
NM_017950.4(CCDC40):c.3180+7G>A
|
rs764901506
|
0.00001
|
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val)
|
rs369522039
|
0.00001
|
NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met)
|
rs374932269
|
0.00001
|
NM_017950.4(CCDC40):c.3216T>G (p.Leu1072=)
|
rs758698381
|
0.00001
|
NM_017950.4(CCDC40):c.3244C>T (p.Arg1082Cys)
|
rs1055443134
|
0.00001
|
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)
|
rs773033304
|
0.00001
|
NM_017950.4(CCDC40):c.3290G>A (p.Arg1097His)
|
rs777500902
|
0.00001
|
NM_017950.4(CCDC40):c.3322G>A (p.Ala1108Thr)
|
rs763389968
|
0.00001
|
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro)
|
rs778612110
|
0.00001
|
NM_017950.4(CCDC40):c.415C>T (p.Gln139Ter)
|
rs764551914
|
0.00001
|
NM_017950.4(CCDC40):c.624C>T (p.His208=)
|
rs370581662
|
0.00001
|
NM_017950.4(CCDC40):c.627G>C (p.Gly209=)
|
rs758242176
|
0.00001
|
NM_017950.4(CCDC40):c.708C>T (p.Pro236=)
|
rs769809719
|
0.00001
|
NM_017950.4(CCDC40):c.780G>A (p.Glu260=)
|
rs893159224
|
0.00001
|
NM_017950.4(CCDC40):c.804C>T (p.Asp268=)
|
rs756325484
|
0.00001
|
NM_017950.4(CCDC40):c.855+10C>T
|
rs376261068
|
0.00001
|
NM_017950.4(CCDC40):c.901C>T (p.Arg301Ter)
|
rs201223986
|
0.00001
|
NM_017950.4(CCDC40):c.902G>A (p.Arg301Gln)
|
rs191632512
|
0.00001
|
NM_017950.4(CCDC40):c.939+11G>A
|
rs754748154
|
0.00001
|
NM_017950.4(CCDC40):c.940-2A>G
|
rs750708201
|
0.00001
|
NM_017950.4(CCDC40):c.956A>G (p.Gln319Arg)
|
rs1428646439
|
0.00001
|
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)
|
rs754867753
|
0.00001
|
NC_000017.10:g.(?_78021971)_(78024070_?)del
|
|
|
NC_000017.10:g.(?_78039264)_(78039425_?)del
|
|
|
NC_000017.10:g.(?_78071024)_(78073574_?)dup
|
|
|
NC_000017.10:g.(?_78071024)_(78073594_?)dup
|
|
|
NC_000017.11:g.(?_80058474)_(80059000_?)del
|
|
|
NC_000017.11:g.(?_80085983)_(80095471_?)dup
|
|
|
NM_017950.4(CCDC40):c.1014G>A (p.Leu338=)
|
|
|
NM_017950.4(CCDC40):c.102A>G (p.Pro34=)
|
|
|
NM_017950.4(CCDC40):c.1040A>G (p.Lys347Arg)
|
|
|
NM_017950.4(CCDC40):c.1048G>A (p.Asp350Asn)
|
|
|
NM_017950.4(CCDC40):c.1051C>G (p.Arg351Gly)
|
|
|
NM_017950.4(CCDC40):c.1083G>A (p.Gln361=)
|
rs1598488399
|
|
NM_017950.4(CCDC40):c.1104C>T (p.Ala368=)
|
|
|
NM_017950.4(CCDC40):c.1108C>T (p.Arg370Cys)
|
|
|
NM_017950.4(CCDC40):c.1110C>T (p.Arg370=)
|
|
|
NM_017950.4(CCDC40):c.1136C>A (p.Ala379Asp)
|
rs976460197
|
|
NM_017950.4(CCDC40):c.1137C>T (p.Ala379=)
|
|
|
NM_017950.4(CCDC40):c.1142A>G (p.Asn381Ser)
|
rs1290134661
|
|
NM_017950.4(CCDC40):c.1146G>C (p.Glu382Asp)
|
|
|
NM_017950.4(CCDC40):c.1153A>C (p.Lys385Gln)
|
|
|
NM_017950.4(CCDC40):c.1159+13G>A
|
|
|
NM_017950.4(CCDC40):c.1159+15C>T
|
|
|
NM_017950.4(CCDC40):c.1159+3A>T
|
rs1185054167
|
|
NM_017950.4(CCDC40):c.1160-13C>T
|
rs2037808461
|
|
NM_017950.4(CCDC40):c.1160-15C>T
|
|
|
NM_017950.4(CCDC40):c.1160-15dup
|
|
|
NM_017950.4(CCDC40):c.1160-17C>T
|
|
|
NM_017950.4(CCDC40):c.1160-2A>C
|
|
|
NM_017950.4(CCDC40):c.1160-3C>T
|
rs2143648368
|
|
NM_017950.4(CCDC40):c.1160-4G>A
|
|
|
NM_017950.4(CCDC40):c.1163C>A (p.Ala388Glu)
|
rs199948075
|
|
NM_017950.4(CCDC40):c.11C>T (p.Pro4Leu)
|
rs776947186
|
|
NM_017950.4(CCDC40):c.1212_1220del (p.Met404_Asn406del)
|
rs775672044
|
|
NM_017950.4(CCDC40):c.1222G>A (p.Asp408Asn)
|
|
|
NM_017950.4(CCDC40):c.1225C>T (p.Gln409Ter)
|
rs1472033145
|
|
NM_017950.4(CCDC40):c.1249G>A (p.Val417Met)
|
rs535461092
|
|
NM_017950.4(CCDC40):c.1258C>G (p.Gln420Glu)
|
|
|
NM_017950.4(CCDC40):c.1259A>G (p.Gln420Arg)
|
rs1060501720
|
|
NM_017950.4(CCDC40):c.1263G>A (p.Val421=)
|
|
|
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter)
|
rs775299709
|
|
NM_017950.4(CCDC40):c.1280C>A (p.Thr427Lys)
|
|
|
NM_017950.4(CCDC40):c.1286G>C (p.Arg429Thr)
|
|
|
NM_017950.4(CCDC40):c.1293G>A (p.Arg431=)
|
|
|
NM_017950.4(CCDC40):c.12G>C (p.Pro4=)
|
|
|
NM_017950.4(CCDC40):c.1302C>G (p.Ile434Met)
|
|
|
NM_017950.4(CCDC40):c.1317+16G>A
|
|
|
NM_017950.4(CCDC40):c.1318-14A>G
|
|
|
NM_017950.4(CCDC40):c.1318-19T>C
|
|
|
NM_017950.4(CCDC40):c.1318-5C>G
|
|
|
NM_017950.4(CCDC40):c.1326T>C (p.Tyr442=)
|
|
|
NM_017950.4(CCDC40):c.1345C>G (p.Arg449Gly)
|
rs387907093
|
|
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)
|
rs387907093
|
|
NM_017950.4(CCDC40):c.1354C>A (p.Gln452Lys)
|
|
|
NM_017950.4(CCDC40):c.13G>A (p.Gly5Ser)
|
|
|
NM_017950.4(CCDC40):c.1416del (p.Ile473fs)
|
rs764011276
|
|
NM_017950.4(CCDC40):c.1440+17C>A
|
|
|
NM_017950.4(CCDC40):c.1440+17C>T
|
|
|
NM_017950.4(CCDC40):c.1440+19G>A
|
|
|
NM_017950.4(CCDC40):c.1441-10T>C
|
|
|
NM_017950.4(CCDC40):c.1441-13C>G
|
|
|
NM_017950.4(CCDC40):c.1467C>A (p.Ser489Arg)
|
rs200154414
|
|
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=)
|
rs200154414
|
|
NM_017950.4(CCDC40):c.147C>T (p.Ser49=)
|
rs1301657020
|
|
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys)
|
rs200858130
|
|
NM_017950.4(CCDC40):c.1485C>A (p.Ile495=)
|
rs771128827
|
|
NM_017950.4(CCDC40):c.1486A>T (p.Met496Leu)
|
|
|
NM_017950.4(CCDC40):c.1488G>A (p.Met496Ile)
|
rs774462299
|
|
NM_017950.4(CCDC40):c.1527C>T (p.Arg509=)
|
|
|
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu)
|
rs368929374
|
|
NM_017950.4(CCDC40):c.1530C>T (p.Asp510=)
|
|
|
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys)
|
rs59978698
|
|
NM_017950.4(CCDC40):c.1536G>A (p.Ala512=)
|
|
|
NM_017950.4(CCDC40):c.1537C>T (p.His513Tyr)
|
rs2038023446
|
|
NM_017950.4(CCDC40):c.1557G>A (p.Ala519=)
|
|
|
NM_017950.4(CCDC40):c.1561A>G (p.Arg521Gly)
|
rs2038024808
|
|
NM_017950.4(CCDC40):c.1563-16C>T
|
|
|
NM_017950.4(CCDC40):c.1563-5T>C
|
rs2143733765
|
|
NM_017950.4(CCDC40):c.1565G>A (p.Gly522Glu)
|
rs947035837
|
|
NM_017950.4(CCDC40):c.1571del (p.Gln524fs)
|
|
|
NM_017950.4(CCDC40):c.1579del (p.Ala527fs)
|
rs2143733843
|
|
NM_017950.4(CCDC40):c.1602T>A (p.Ile534=)
|
|
|
NM_017950.4(CCDC40):c.1607C>G (p.Ala536Gly)
|
|
|
NM_017950.4(CCDC40):c.1618T>C (p.Ser540Pro)
|
rs1598533116
|
|
NM_017950.4(CCDC40):c.1620del (p.Ile541fs)
|
rs878855041
|
|
NM_017950.4(CCDC40):c.163del (p.Glu55fs)
|
|
|
NM_017950.4(CCDC40):c.1656G>A (p.Ala552=)
|
|
|
NM_017950.4(CCDC40):c.1659C>T (p.Ser553=)
|
|
|
NM_017950.4(CCDC40):c.1662C>A (p.Ile554=)
|
|
|
NM_017950.4(CCDC40):c.1680G>A (p.Thr560=)
|
|
|
NM_017950.4(CCDC40):c.1696C>T (p.Gln566Ter)
|
|
|
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg)
|
rs199786478
|
|
NM_017950.4(CCDC40):c.1741_1760del (p.Ser581fs)
|
|
|
NM_017950.4(CCDC40):c.174C>A (p.Thr58=)
|
|
|
NM_017950.4(CCDC40):c.1771C>G (p.Gln591Glu)
|
|
|
NM_017950.4(CCDC40):c.1772A>G (p.Gln591Arg)
|
rs1568706447
|
|
NM_017950.4(CCDC40):c.1780G>C (p.Glu594Gln)
|
rs1314509837
|
|
NM_017950.4(CCDC40):c.1806+5G>A
|
|
|
NM_017950.4(CCDC40):c.1824G>T (p.Thr608=)
|
rs371383125
|
|
NM_017950.4(CCDC40):c.1848A>G (p.Gln616=)
|
|
|
NM_017950.4(CCDC40):c.1861G>A (p.Glu621Lys)
|
|
|
NM_017950.4(CCDC40):c.1873A>G (p.Arg625Gly)
|
rs2038460577
|
|
NM_017950.4(CCDC40):c.1885G>C (p.Asp629His)
|
rs2038461062
|
|
NM_017950.4(CCDC40):c.1889_1890delinsTG (p.Ala630Val)
|
rs386799737
|
|
NM_017950.4(CCDC40):c.18C>T (p.Gly6=)
|
|
|
NM_017950.4(CCDC40):c.1924_1926del (p.Ser642del)
|
rs750295453
|
|
NM_017950.4(CCDC40):c.1949A>C (p.Asn650Thr)
|
rs201064110
|
|
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)
|
rs387907092
|
|
NM_017950.4(CCDC40):c.1953G>A (p.Gln651=)
|
|
|
NM_017950.4(CCDC40):c.1968G>T (p.Leu656=)
|
|
|
NM_017950.4(CCDC40):c.1989+1G>A
|
rs745993158
|
|
NM_017950.4(CCDC40):c.1989+5G>A
|
|
|
NM_017950.4(CCDC40):c.198G>T (p.Glu66Asp)
|
|
|
NM_017950.4(CCDC40):c.1990-10A>G
|
rs1598538379
|
|
NM_017950.4(CCDC40):c.2053A>G (p.Ser685Gly)
|
|
|
NM_017950.4(CCDC40):c.2071C>T (p.His691Tyr)
|
|
|
NM_017950.4(CCDC40):c.207G>T (p.Val69=)
|
|
|
NM_017950.4(CCDC40):c.2104G>T (p.Val702Leu)
|
rs748948064
|
|
NM_017950.4(CCDC40):c.2117A>G (p.Asn706Ser)
|
rs2143744575
|
|
NM_017950.4(CCDC40):c.2121G>C (p.Glu707Asp)
|
rs981844099
|
|
NM_017950.4(CCDC40):c.2126T>C (p.Ile709Thr)
|
rs759104776
|
|
NM_017950.4(CCDC40):c.2160G>A (p.Thr720=)
|
|
|
NM_017950.4(CCDC40):c.2170G>A (p.Glu724Lys)
|
|
|
NM_017950.4(CCDC40):c.2183_2184del (p.Gly728fs)
|
rs751191119
|
|
NM_017950.4(CCDC40):c.2185C>T (p.Leu729Phe)
|
|
|
NM_017950.4(CCDC40):c.2186T>A (p.Leu729His)
|
|
|
NM_017950.4(CCDC40):c.2191A>G (p.Asn731Asp)
|
|
|
NM_017950.4(CCDC40):c.2205G>A (p.Lys735=)
|
rs1598538834
|
|
NM_017950.4(CCDC40):c.2211G>T (p.Leu737=)
|
|
|
NM_017950.4(CCDC40):c.2224T>C (p.Ser742Pro)
|
|
|
NM_017950.4(CCDC40):c.2235+11A>G
|
|
|
NM_017950.4(CCDC40):c.2235+1G>T
|
rs1568709952
|
|
NM_017950.4(CCDC40):c.2236-2del
|
rs1336208372
|
|
NM_017950.4(CCDC40):c.2236-6G>A
|
rs1402665990
|
|
NM_017950.4(CCDC40):c.2236-8C>T
|
|
|
NM_017950.4(CCDC40):c.225A>G (p.Ala75=)
|
|
|
NM_017950.4(CCDC40):c.2260C>T (p.Leu754Phe)
|
|
|
NM_017950.4(CCDC40):c.2289C>T (p.Ile763=)
|
|
|
NM_017950.4(CCDC40):c.2299G>A (p.Asp767Asn)
|
|
|
NM_017950.4(CCDC40):c.229G>A (p.Val77Met)
|
|
|
NM_017950.4(CCDC40):c.232G>A (p.Glu78Lys)
|
rs1568667170
|
|
NM_017950.4(CCDC40):c.2336G>T (p.Arg779Leu)
|
rs183809462
|
|
NM_017950.4(CCDC40):c.2395G>A (p.Asp799Asn)
|
rs757730799
|
|
NM_017950.4(CCDC40):c.240A>G (p.Glu80=)
|
rs2143576891
|
|
NM_017950.4(CCDC40):c.2449+12C>T
|
|
|
NM_017950.4(CCDC40):c.2449+13G>A
|
|
|
NM_017950.4(CCDC40):c.2449+15G>A
|
|
|
NM_017950.4(CCDC40):c.2449+9C>T
|
|
|
NM_017950.4(CCDC40):c.2450-1G>A
|
rs774081599
|
|
NM_017950.4(CCDC40):c.2450-4A>G
|
|
|
NM_017950.4(CCDC40):c.2457del (p.Ile819fs)
|
rs1277942930
|
|
NM_017950.4(CCDC40):c.2472G>A (p.Lys824=)
|
|
|
NM_017950.4(CCDC40):c.2488G>A (p.Glu830Lys)
|
|
|
NM_017950.4(CCDC40):c.2498dup (p.Met833fs)
|
|
|
NM_017950.4(CCDC40):c.2506C>T (p.Leu836=)
|
|
|
NM_017950.4(CCDC40):c.2507T>C (p.Leu836Pro)
|
|
|
NM_017950.4(CCDC40):c.2514C>T (p.Asn838=)
|
|
|
NM_017950.4(CCDC40):c.2524A>C (p.Lys842Gln)
|
rs2038615740
|
|
NM_017950.4(CCDC40):c.2539A>T (p.Met847Leu)
|
rs376872623
|
|
NM_017950.4(CCDC40):c.2552G>A (p.Arg851Gln)
|
rs745599843
|
|
NM_017950.4(CCDC40):c.2562G>A (p.Ser854=)
|
rs760217617
|
|
NM_017950.4(CCDC40):c.2566G>C (p.Glu856Gln)
|
rs1000468581
|
|
NM_017950.4(CCDC40):c.2571G>A (p.Leu857=)
|
|
|
NM_017950.4(CCDC40):c.2590_2591insAC (p.Thr864fs)
|
|
|
NM_017950.4(CCDC40):c.2592A>G (p.Thr864=)
|
|
|
NM_017950.4(CCDC40):c.2597A>G (p.Asn866Ser)
|
rs2038617610
|
|
NM_017950.4(CCDC40):c.2610C>G (p.Arg870=)
|
|
|
NM_017950.4(CCDC40):c.2613G>A (p.Ser871=)
|
|
|
NM_017950.4(CCDC40):c.2614C>T (p.Leu872=)
|
rs1351266176
|
|
NM_017950.4(CCDC40):c.2615T>C (p.Leu872Pro)
|
|
|
NM_017950.4(CCDC40):c.2619+10T>C
|
|
|
NM_017950.4(CCDC40):c.2619+16C>T
|
|
|
NM_017950.4(CCDC40):c.2619+17G>A
|
|
|
NM_017950.4(CCDC40):c.2619+17G>T
|
|
|
NM_017950.4(CCDC40):c.2619+19A>G
|
|
|
NM_017950.4(CCDC40):c.2619+5G>A
|
|
|
NM_017950.4(CCDC40):c.2620-18G>A
|
|
|
NM_017950.4(CCDC40):c.2647C>T (p.Gln883Ter)
|
rs755004291
|
|
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs)
|
rs1567811487
|
|
NM_017950.4(CCDC40):c.2670C>T (p.Ser890=)
|
rs371516381
|
|
NM_017950.4(CCDC40):c.2671G>T (p.Glu891Ter)
|
rs773796940
|
|
NM_017950.4(CCDC40):c.267T>C (p.Ala89=)
|
|
|
NM_017950.4(CCDC40):c.2693A>G (p.Asn898Ser)
|
|
|
NM_017950.4(CCDC40):c.2711+11G>T
|
rs1434924240
|
|
NM_017950.4(CCDC40):c.2711+1G>A
|
|
|
NM_017950.4(CCDC40):c.2712-17C>T
|
|
|
NM_017950.4(CCDC40):c.2712-1G>A
|
rs370706991
|
|
NM_017950.4(CCDC40):c.2712-1G>T
|
rs370706991
|
|
NM_017950.4(CCDC40):c.2721T>G (p.Ile907Met)
|
rs2038663366
|
|
NM_017950.4(CCDC40):c.2727T>C (p.Leu909=)
|
rs1555593479
|
|
NM_017950.4(CCDC40):c.2740del (p.Ile914fs)
|
|
|
NM_017950.4(CCDC40):c.274G>A (p.Glu92Lys)
|
|
|
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
|
|
|
NM_017950.4(CCDC40):c.2779G>A (p.Glu927Lys)
|
|
|
NM_017950.4(CCDC40):c.2786G>C (p.Gly929Ala)
|
|
|
NM_017950.4(CCDC40):c.2792C>T (p.Thr931Met)
|
rs202141933
|
|
NM_017950.4(CCDC40):c.2801G>A (p.Arg934Gln)
|
rs143374313
|
|
NM_017950.4(CCDC40):c.2803G>A (p.Ala935Thr)
|
|
|
NM_017950.4(CCDC40):c.2815G>A (p.Glu939Lys)
|
|
|
NM_017950.4(CCDC40):c.281A>T (p.Glu94Val)
|
rs2143577082
|
|
NM_017950.4(CCDC40):c.2832+16C>T
|
|
|
NM_017950.4(CCDC40):c.2832+17G>A
|
|
|
NM_017950.4(CCDC40):c.2832G>A (p.Lys944=)
|
rs2143759904
|
|
NM_017950.4(CCDC40):c.2836A>G (p.Arg946Gly)
|
rs2143775943
|
|
NM_017950.4(CCDC40):c.2842G>A (p.Gly948Arg)
|
|
|
NM_017950.4(CCDC40):c.2852dup (p.Lys952fs)
|
rs878855042
|
|
NM_017950.4(CCDC40):c.2874C>T (p.Ile958=)
|
|
|
NM_017950.4(CCDC40):c.288C>T (p.Tyr96=)
|
|
|
NM_017950.4(CCDC40):c.2891C>T (p.Ala964Val)
|
|
|
NM_017950.4(CCDC40):c.29+12C>G
|
|
|
NM_017950.4(CCDC40):c.29+1_29+13dup
|
rs771732758
|
|
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.2907G>C (p.Glu969Asp)
|
|
|
NM_017950.4(CCDC40):c.2920C>T (p.Gln974Ter)
|
|
|
NM_017950.4(CCDC40):c.2925C>G (p.Ala975=)
|
|
|
NM_017950.4(CCDC40):c.2931G>T (p.Gly977=)
|
|
|
NM_017950.4(CCDC40):c.2944dup (p.Asp982fs)
|
|
|
NM_017950.4(CCDC40):c.2953G>T (p.Ala985Ser)
|
|
|
NM_017950.4(CCDC40):c.2963G>A (p.Arg988His)
|
rs778921041
|
|
NM_017950.4(CCDC40):c.2967C>G (p.Thr989=)
|
rs199575834
|
|
NM_017950.4(CCDC40):c.2976C>A (p.His992Gln)
|
rs2038791503
|
|
NM_017950.4(CCDC40):c.2995C>A (p.Arg999Ser)
|
|
|
NM_017950.4(CCDC40):c.2995C>T (p.Arg999Cys)
|
rs546342011
|
|
NM_017950.4(CCDC40):c.2T>G (p.Met1Arg)
|
|
|
NM_017950.4(CCDC40):c.30-7A>C
|
|
|
NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs)
|
rs1278589861
|
|
NM_017950.4(CCDC40):c.3017G>A (p.Arg1006His)
|
|
|
NM_017950.4(CCDC40):c.3022-4C>G
|
|
|
NM_017950.4(CCDC40):c.3022-6T>C
|
|
|
NM_017950.4(CCDC40):c.3028G>A (p.Asp1010Asn)
|
|
|
NM_017950.4(CCDC40):c.3038C>T (p.Thr1013Ile)
|
rs1257141883
|
|
NM_017950.4(CCDC40):c.3063A>G (p.Glu1021=)
|
|
|
NM_017950.4(CCDC40):c.3093A>C (p.Leu1031=)
|
|
|
NM_017950.4(CCDC40):c.309G>A (p.Pro103=)
|
|
|
NM_017950.4(CCDC40):c.3100C>T (p.Gln1034Ter)
|
|
|
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val)
|
rs886038640
|
|
NM_017950.4(CCDC40):c.3129del (p.Phe1044fs)
|
rs1418585908
|
|
NM_017950.4(CCDC40):c.3133G>A (p.Asp1045Asn)
|
|
|
NM_017950.4(CCDC40):c.3138A>T (p.Thr1046=)
|
|
|
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs)
|
rs1567818236
|
|
NM_017950.4(CCDC40):c.3159G>T (p.Arg1053=)
|
|
|
NM_017950.4(CCDC40):c.3181-2A>G
|
rs762664261
|
|
NM_017950.4(CCDC40):c.3181-4C>A
|
|
|
NM_017950.4(CCDC40):c.3181-4C>G
|
|
|
NM_017950.4(CCDC40):c.3183C>T (p.Asn1061=)
|
rs1567819545
|
|
NM_017950.4(CCDC40):c.3224T>C (p.Leu1075Pro)
|
|
|
NM_017950.4(CCDC40):c.3240G>A (p.Glu1080=)
|
|
|
NM_017950.4(CCDC40):c.3250G>C (p.Val1084Leu)
|
rs546314844
|
|
NM_017950.4(CCDC40):c.3255C>T (p.Phe1085=)
|
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|
NM_017950.4(CCDC40):c.3266C>A (p.Ser1089Tyr)
|
rs762447884
|
|
NM_017950.4(CCDC40):c.3274T>C (p.Ser1092Pro)
|
|
|
NM_017950.4(CCDC40):c.3277C>G (p.Leu1093Val)
|
rs1060501721
|
|
NM_017950.4(CCDC40):c.327T>C (p.Ala109=)
|
|
|
NM_017950.4(CCDC40):c.3289C>T (p.Arg1097Cys)
|
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NM_017950.4(CCDC40):c.3291C>T (p.Arg1097=)
|
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|
NM_017950.4(CCDC40):c.3296G>A (p.Arg1099His)
|
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|
NM_017950.4(CCDC40):c.3298C>T (p.Leu1100=)
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|
NM_017950.4(CCDC40):c.3321C>T (p.Ile1107=)
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|
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu)
|
rs368814379
|
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NM_017950.4(CCDC40):c.3343C>A (p.Arg1115=)
|
|
|
NM_017950.4(CCDC40):c.3349G>T (p.Glu1117Ter)
|
rs145595957
|
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NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter)
|
rs374909386
|
|
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter)
|
rs2143789412
|
|
NM_017950.4(CCDC40):c.335C>A (p.Thr112Lys)
|
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|
NM_017950.4(CCDC40):c.3363C>A (p.Phe1121Leu)
|
rs367605498
|
|
NM_017950.4(CCDC40):c.3363C>T (p.Phe1121=)
|
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NM_017950.4(CCDC40):c.336G>T (p.Thr112=)
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NM_017950.4(CCDC40):c.3408C>G (p.Leu1136=)
|
rs186591691
|
|
NM_017950.4(CCDC40):c.344C>T (p.Pro115Leu)
|
rs754194373
|
|
NM_017950.4(CCDC40):c.345G>A (p.Pro115=)
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|
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NM_017950.4(CCDC40):c.355C>A (p.Pro119Thr)
|
rs750628862
|
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NM_017950.4(CCDC40):c.390T>C (p.Asp130=)
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NM_017950.4(CCDC40):c.390_391dup (p.Ser131fs)
|
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NM_017950.4(CCDC40):c.394_395del (p.Ser131_Val132insTer)
|
rs2143577665
|
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NM_017950.4(CCDC40):c.397_422dup (p.Phe141fs)
|
rs2037236648
|
|
NM_017950.4(CCDC40):c.398G>C (p.Ser133Thr)
|
rs769499619
|
|
NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg)
|
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NM_017950.4(CCDC40):c.403G>A (p.Glu135Lys)
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NM_017950.4(CCDC40):c.408T>C (p.Ala136=)
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NM_017950.4(CCDC40):c.409G>T (p.Gly137Cys)
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|
NM_017950.4(CCDC40):c.40G>A (p.Glu14Lys)
|
rs2143570150
|
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NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)
|
rs1568667609
|
|
NM_017950.4(CCDC40):c.462G>A (p.Arg154=)
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NM_017950.4(CCDC40):c.463del (p.Arg155fs)
|
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NM_017950.4(CCDC40):c.479A>G (p.Glu160Gly)
|
rs2037239982
|
|
NM_017950.4(CCDC40):c.489C>T (p.His163=)
|
|
|
NM_017950.4(CCDC40):c.48A>G (p.Gly16=)
|
rs2143570184
|
|
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg)
|
rs770564150
|
|
NM_017950.4(CCDC40):c.504G>T (p.Pro168=)
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|
|
NM_017950.4(CCDC40):c.534G>A (p.Gly178=)
|
rs2143578294
|
|
NM_017950.4(CCDC40):c.552+6T>A
|
rs2037242845
|
|
NM_017950.4(CCDC40):c.553-10C>G
|
|
|
NM_017950.4(CCDC40):c.553-5C>T
|
rs1598483962
|
|
NM_017950.4(CCDC40):c.564A>G (p.Thr188=)
|
rs2037448406
|
|
NM_017950.4(CCDC40):c.565G>A (p.Glu189Lys)
|
rs372456780
|
|
NM_017950.4(CCDC40):c.569A>C (p.Glu190Ala)
|
|
|
NM_017950.4(CCDC40):c.606C>G (p.His202Gln)
|
|
|
NM_017950.4(CCDC40):c.613C>T (p.Arg205Trp)
|
rs753704549
|
|
NM_017950.4(CCDC40):c.635T>G (p.Ile212Ser)
|
|
|
NM_017950.4(CCDC40):c.672G>A (p.Glu224=)
|
|
|
NM_017950.4(CCDC40):c.676+2_676+3dup
|
rs756160039
|
|
NM_017950.4(CCDC40):c.676+4C>A
|
rs2037454418
|
|
NM_017950.4(CCDC40):c.676+5C>A
|
rs776691453
|
|
NM_017950.4(CCDC40):c.676+9C>A
|
|
|
NM_017950.4(CCDC40):c.677-16C>T
|
|
|
NM_017950.4(CCDC40):c.677-18C>T
|
|
|
NM_017950.4(CCDC40):c.677-1G>T
|
|
|
NM_017950.4(CCDC40):c.677-2A>G
|
|
|
NM_017950.4(CCDC40):c.677-3del
|
rs886038641
|
|
NM_017950.4(CCDC40):c.677-4C>A
|
|
|
NM_017950.4(CCDC40):c.682C>T (p.Pro228Ser)
|
rs878855043
|
|
NM_017950.4(CCDC40):c.687_696del (p.Gly230fs)
|
|
|
NM_017950.4(CCDC40):c.690G>T (p.Gly230=)
|
rs750834095
|
|
NM_017950.4(CCDC40):c.691G>A (p.Val231Met)
|
|
|
NM_017950.4(CCDC40):c.694C>T (p.Pro232Ser)
|
|
|
NM_017950.4(CCDC40):c.69G>A (p.Lys23=)
|
|
|
NM_017950.4(CCDC40):c.712G>T (p.Glu238Ter)
|
|
|
NM_017950.4(CCDC40):c.756C>T (p.Ser252=)
|
|
|
NM_017950.4(CCDC40):c.757A>G (p.Thr253Ala)
|
|
|
NM_017950.4(CCDC40):c.769G>A (p.Ala257Thr)
|
|
|
NM_017950.4(CCDC40):c.774G>A (p.Met258Ile)
|
|
|
NM_017950.4(CCDC40):c.783_784del (p.Arg261fs)
|
rs757076408
|
|
NM_017950.4(CCDC40):c.792C>T (p.Ser264=)
|
|
|
NM_017950.4(CCDC40):c.805G>A (p.Glu269Lys)
|
|
|
NM_017950.4(CCDC40):c.832C>T (p.Leu278=)
|
|
|
NM_017950.4(CCDC40):c.855+12T>A
|
|
|
NM_017950.4(CCDC40):c.855+1G>A
|
rs1346603171
|
|
NM_017950.4(CCDC40):c.855+20_855+24del
|
rs2037498801
|
|
NM_017950.4(CCDC40):c.856-9T>C
|
rs1193011376
|
|
NM_017950.4(CCDC40):c.867A>G (p.Val289=)
|
rs1386295352
|
|
NM_017950.4(CCDC40):c.93+14T>C
|
|
|
NM_017950.4(CCDC40):c.93+15G>A
|
|
|
NM_017950.4(CCDC40):c.93+20G>A
|
|
|
NM_017950.4(CCDC40):c.93+4A>G
|
|
|
NM_017950.4(CCDC40):c.93+7T>C
|
|
|
NM_017950.4(CCDC40):c.931C>A (p.Gln311Lys)
|
rs1555891851
|
|
NM_017950.4(CCDC40):c.939+10C>T
|
|
|
NM_017950.4(CCDC40):c.939+13C>G
|
|
|
NM_017950.4(CCDC40):c.94-12A>G
|
|
|
NM_017950.4(CCDC40):c.940-1G>C
|
rs2037540861
|
|
NM_017950.4(CCDC40):c.941T>C (p.Val314Ala)
|
|
|
NM_017950.4(CCDC40):c.950C>G (p.Thr317Ser)
|
rs751751403
|
|
NM_017950.4(CCDC40):c.950C>T (p.Thr317Ile)
|
|
|
NM_017950.4(CCDC40):c.970C>T (p.Arg324Trp)
|
|
|
NM_017950.4(CCDC40):c.985G>T (p.Val329Leu)
|
rs745445950
|
|