NM_007186.6(CEP250):c.2889+28=
|
rs224373
|
0.87909
|
NM_007186.6(CEP250):c.1389-117=
|
rs224361
|
0.38844
|
NM_007186.6(CEP250):c.949-200=
|
rs224360
|
0.37370
|
NM_007186.6(CEP250):c.493-182=
|
rs224354
|
0.36795
|
NM_007186.6(CEP250):c.1572-232C>T
|
rs4911503
|
0.34166
|
NM_007186.6(CEP250):c.1051-212T>C
|
rs2281849
|
0.34160
|
NM_007186.6(CEP250):c.6907-47A>G
|
rs2236165
|
0.34157
|
NM_007186.6(CEP250):c.6907-191T>C
|
rs4281980
|
0.31760
|
NM_007186.6(CEP250):c.2586+190A>G
|
rs10439606
|
0.17871
|
NM_007186.6(CEP250):c.4322G>A (p.Arg1441Gln)
|
rs3748433
|
0.11335
|
NM_007186.6(CEP250):c.1863+58C>T
|
rs57616316
|
0.07740
|
NM_007186.6(CEP250):c.1571+41T>C
|
rs35395621
|
0.04566
|
NM_007186.6(CEP250):c.3945G>T (p.Leu1315=)
|
rs2274238
|
0.03486
|
NM_007186.6(CEP250):c.3307-20G>A
|
rs117075109
|
0.02768
|
NM_007186.6(CEP250):c.1863+81C>G
|
rs17092679
|
0.02437
|
NM_007186.6(CEP250):c.2889+65G>A
|
rs7263450
|
0.02383
|
NM_007186.6(CEP250):c.7065+86C>G
|
rs76529782
|
0.02383
|
NM_007186.6(CEP250):c.3656-244G>C
|
rs74327142
|
0.02382
|
NM_007186.6(CEP250):c.3167+198T>C
|
rs932551
|
0.02381
|
NM_007186.6(CEP250):c.5478G>A (p.Gln1826=)
|
rs17092712
|
0.02380
|
NM_007186.6(CEP250):c.3778-140A>G
|
rs116454922
|
0.02379
|
NM_007186.6(CEP250):c.3306+206A>G
|
rs74427159
|
0.02223
|
NM_007186.6(CEP250):c.1837G>T (p.Val613Phe)
|
rs74929920
|
0.01955
|
NM_007186.6(CEP250):c.6750+6C>G
|
rs76603816
|
0.01539
|
NM_007186.6(CEP250):c.3738C>T (p.His1246=)
|
rs61998233
|
0.01538
|
NM_007186.6(CEP250):c.679G>A (p.Ala227Thr)
|
rs115994448
|
0.01537
|
NM_007186.6(CEP250):c.2586+19C>T
|
rs8118913
|
0.01440
|
NM_007186.6(CEP250):c.6951G>A (p.Ala2317=)
|
rs61745969
|
0.01400
|
NM_007186.6(CEP250):c.2954G>A (p.Arg985Gln)
|
rs75672673
|
0.01216
|
NM_007186.6(CEP250):c.3214C>G (p.Gln1072Glu)
|
rs17092706
|
0.01205
|
NM_007186.6(CEP250):c.4782G>A (p.Thr1594=)
|
rs41290924
|
0.01074
|
NM_007186.6(CEP250):c.3967G>A (p.Ala1323Thr)
|
rs114063154
|
0.01012
|
NM_007186.6(CEP250):c.6211G>A (p.Glu2071Lys)
|
rs61729986
|
0.00863
|
NM_007186.6(CEP250):c.5879G>A (p.Arg1960Gln)
|
rs56259282
|
0.00743
|
NM_007186.6(CEP250):c.3033+28A>G
|
rs115699391
|
0.00631
|
NM_007186.6(CEP250):c.6016G>A (p.Asp2006Asn)
|
rs61729988
|
0.00621
|
NM_007186.6(CEP250):c.2641G>A (p.Glu881Lys)
|
rs140439099
|
0.00609
|
NM_007186.6(CEP250):c.6358A>G (p.Asn2120Asp)
|
rs61729985
|
0.00577
|
NM_007186.6(CEP250):c.3381G>A (p.Glu1127=)
|
rs151074856
|
0.00574
|
NM_007186.6(CEP250):c.5570G>A (p.Arg1857His)
|
rs73903079
|
0.00442
|
NM_007186.6(CEP250):c.6157C>T (p.His2053Tyr)
|
rs57577046
|
0.00434
|
NM_007186.6(CEP250):c.2391C>T (p.Val797=)
|
rs111853969
|
0.00357
|
NM_007186.6(CEP250):c.5974C>T (p.Arg1992Cys)
|
rs41290926
|
0.00299
|
NM_007186.6(CEP250):c.6150G>A (p.Glu2050=)
|
rs114108181
|
0.00299
|
NM_007186.6(CEP250):c.6386A>G (p.His2129Arg)
|
rs61729984
|
0.00185
|
NM_007186.6(CEP250):c.6943A>G (p.Met2315Val)
|
rs114001563
|
0.00175
|
NM_007186.6(CEP250):c.1001C>T (p.Ala334Val)
|
rs116166982
|
0.00169
|
NM_007186.6(CEP250):c.6611G>A (p.Arg2204Gln)
|
rs188311566
|
0.00145
|
NM_007186.6(CEP250):c.2985A>T (p.Gln995His)
|
rs2296403
|
0.00118
|
NM_007186.6(CEP250):c.384C>T (p.Asp128=)
|
rs147554271
|
0.00093
|
NM_007186.6(CEP250):c.5161C>T (p.Arg1721Cys)
|
rs754782740
|
0.00092
|
NM_007186.6(CEP250):c.4485C>T (p.Ala1495=)
|
rs114039410
|
0.00090
|
NM_007186.6(CEP250):c.2775G>T (p.Lys925Asn)
|
rs145916875
|
0.00081
|
NM_007186.6(CEP250):c.2120C>T (p.Thr707Met)
|
rs139645049
|
0.00062
|
NM_007186.6(CEP250):c.1827G>A (p.Ala609=)
|
rs116246408
|
0.00061
|
NM_007186.6(CEP250):c.493-1G>A
|
rs200083040
|
0.00059
|
NM_007186.6(CEP250):c.1462C>T (p.Arg488Cys)
|
rs151167358
|
0.00051
|
NM_007186.6(CEP250):c.2289-7C>A
|
rs200780994
|
0.00046
|
NM_007186.6(CEP250):c.3207T>G (p.Leu1069=)
|
rs61729981
|
0.00043
|
NM_007186.6(CEP250):c.3237A>G (p.Gln1079=)
|
rs61733772
|
0.00041
|
NM_007186.6(CEP250):c.2669G>C (p.Arg890Thr)
|
rs144024361
|
0.00036
|
NM_007186.6(CEP250):c.6417A>G (p.Leu2139=)
|
rs77537563
|
0.00036
|
NM_007186.6(CEP250):c.1301G>C (p.Arg434Thr)
|
rs149028062
|
0.00032
|
NM_007186.6(CEP250):c.3855A>G (p.Thr1285=)
|
rs139078811
|
0.00030
|
NM_007186.6(CEP250):c.7066-5A>G
|
rs373195359
|
0.00030
|
NM_007186.6(CEP250):c.244-6G>A
|
rs377361213
|
0.00029
|
NM_007186.6(CEP250):c.3383T>C (p.Leu1128Pro)
|
rs750056511
|
0.00029
|
NM_007186.6(CEP250):c.49C>A (p.Gln17Lys)
|
rs141393541
|
0.00028
|
NM_007186.6(CEP250):c.4674G>C (p.Leu1558=)
|
rs149333362
|
0.00027
|
NM_007186.6(CEP250):c.6795G>A (p.Lys2265=)
|
rs528180639
|
0.00027
|
NM_007186.6(CEP250):c.7066-11C>T
|
rs201178839
|
0.00027
|
NM_007186.6(CEP250):c.3469C>T (p.Arg1157Cys)
|
rs77804973
|
0.00026
|
NM_007186.6(CEP250):c.3933A>G (p.Leu1311=)
|
rs146450676
|
0.00026
|
NM_007186.6(CEP250):c.5025C>T (p.Thr1675=)
|
rs145923641
|
0.00026
|
NM_007186.6(CEP250):c.6162G>T (p.Gln2054His)
|
rs368365512
|
0.00026
|
NM_007186.6(CEP250):c.1971G>A (p.Leu657=)
|
rs373519159
|
0.00024
|
NM_007186.6(CEP250):c.6377C>T (p.Pro2126Leu)
|
rs147497691
|
0.00024
|
NM_007186.6(CEP250):c.3501C>T (p.Ala1167=)
|
rs147057333
|
0.00022
|
NM_007186.6(CEP250):c.4737G>T (p.Leu1579=)
|
rs772730293
|
0.00021
|
NM_007186.6(CEP250):c.482T>C (p.Met161Thr)
|
rs140783729
|
0.00021
|
NM_007186.6(CEP250):c.5858G>A (p.Arg1953Gln)
|
rs368886450
|
0.00021
|
NM_007186.6(CEP250):c.1380T>C (p.Ser460=)
|
rs142139756
|
0.00020
|
NM_007186.6(CEP250):c.1708C>T (p.Leu570=)
|
rs145111069
|
0.00020
|
NM_007186.6(CEP250):c.1716+15C>T
|
rs377432961
|
0.00020
|
NM_007186.6(CEP250):c.1826C>T (p.Ala609Val)
|
rs145878385
|
0.00020
|
NM_007186.6(CEP250):c.5959C>T (p.Gln1987Ter)
|
rs200263031
|
0.00019
|
NM_007186.6(CEP250):c.1213C>T (p.Leu405=)
|
rs147572292
|
0.00018
|
NM_007186.6(CEP250):c.2627C>T (p.Ala876Val)
|
rs534168614
|
0.00018
|
NM_007186.6(CEP250):c.2953C>T (p.Arg985Trp)
|
rs369079762
|
0.00018
|
NM_007186.6(CEP250):c.3132C>T (p.Asn1044=)
|
rs779632867
|
0.00018
|
NM_007186.6(CEP250):c.2274A>G (p.Gln758=)
|
rs139485406
|
0.00017
|
NM_007186.6(CEP250):c.5926G>T (p.Ala1976Ser)
|
rs367908520
|
0.00017
|
NM_007186.6(CEP250):c.1944G>A (p.Ala648=)
|
rs374906853
|
0.00016
|
NM_007186.6(CEP250):c.5805C>G (p.Leu1935=)
|
rs530254316
|
0.00016
|
NM_007186.6(CEP250):c.6637-9G>A
|
rs145557638
|
0.00016
|
NM_007186.6(CEP250):c.6841C>T (p.Arg2281Trp)
|
rs148942784
|
0.00016
|
NM_007186.6(CEP250):c.851G>A (p.Arg284Gln)
|
rs139021763
|
0.00016
|
NM_007186.6(CEP250):c.4106C>T (p.Ala1369Val)
|
rs142447631
|
0.00015
|
NM_007186.6(CEP250):c.4632G>T (p.Gln1544His)
|
rs138568893
|
0.00015
|
NM_007186.6(CEP250):c.1051G>A (p.Val351Ile)
|
rs149721292
|
0.00014
|
NM_007186.6(CEP250):c.1174C>T (p.Arg392Cys)
|
rs370543710
|
0.00014
|
NM_007186.6(CEP250):c.2230C>T (p.Arg744Trp)
|
rs199810583
|
0.00014
|
NM_007186.6(CEP250):c.3167+20G>A
|
rs376973551
|
0.00014
|
NM_007186.6(CEP250):c.4105G>A (p.Ala1369Thr)
|
rs367939150
|
0.00014
|
NM_007186.6(CEP250):c.2289-15T>C
|
rs375501260
|
0.00013
|
NM_007186.6(CEP250):c.257A>G (p.Gln86Arg)
|
rs116101806
|
0.00013
|
NM_007186.6(CEP250):c.3167+17A>G
|
rs113924697
|
0.00013
|
NM_007186.6(CEP250):c.3670A>G (p.Arg1224Gly)
|
rs781293599
|
0.00013
|
NM_007186.6(CEP250):c.7009-15G>T
|
rs774812838
|
0.00013
|
NM_007186.6(CEP250):c.492+12G>A
|
rs756657396
|
0.00012
|
NM_007186.6(CEP250):c.5119C>G (p.Gln1707Glu)
|
rs774513754
|
0.00012
|
NM_007186.6(CEP250):c.7191C>T (p.Ala2397=)
|
rs150287277
|
0.00012
|
NM_007186.6(CEP250):c.1412C>G (p.Ala471Gly)
|
rs199644814
|
0.00011
|
NM_007186.6(CEP250):c.1716+3G>A
|
rs200605614
|
0.00011
|
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)
|
rs774702094
|
0.00011
|
NM_007186.6(CEP250):c.5850G>A (p.Gln1950=)
|
rs368373743
|
0.00011
|
NM_007186.6(CEP250):c.5857C>T (p.Arg1953Trp)
|
rs374682692
|
0.00011
|
NM_007186.6(CEP250):c.6106G>A (p.Asp2036Asn)
|
rs555985621
|
0.00011
|
NM_007186.6(CEP250):c.7018G>A (p.Gly2340Arg)
|
rs144859303
|
0.00011
|
NM_007186.6(CEP250):c.982G>A (p.Ala328Thr)
|
rs150639987
|
0.00011
|
NM_007186.6(CEP250):c.1002G>A (p.Ala334=)
|
rs369235134
|
0.00010
|
NM_007186.6(CEP250):c.1906G>A (p.Ala636Thr)
|
rs143216068
|
0.00010
|
NM_007186.6(CEP250):c.1935C>T (p.Val645=)
|
rs370009858
|
0.00010
|
NM_007186.6(CEP250):c.4095A>G (p.Val1365=)
|
rs373738775
|
0.00010
|
NM_007186.6(CEP250):c.5997A>G (p.Ala1999=)
|
rs369685029
|
0.00010
|
NM_007186.6(CEP250):c.2242G>A (p.Val748Met)
|
rs754323656
|
0.00009
|
NM_007186.6(CEP250):c.2268T>A (p.Ala756=)
|
rs150588824
|
0.00009
|
NM_007186.6(CEP250):c.4144A>C (p.Arg1382=)
|
rs151254784
|
0.00009
|
NM_007186.6(CEP250):c.5497G>A (p.Glu1833Lys)
|
rs201724904
|
0.00009
|
NM_007186.6(CEP250):c.6114G>A (p.Gln2038=)
|
rs756833778
|
0.00009
|
NM_007186.6(CEP250):c.6872G>A (p.Arg2291His)
|
rs143561620
|
0.00009
|
NM_007186.6(CEP250):c.7296C>T (p.Pro2432=)
|
rs112262207
|
0.00009
|
NM_007186.6(CEP250):c.859G>A (p.Glu287Lys)
|
rs142201582
|
0.00009
|
NM_007186.6(CEP250):c.227G>A (p.Arg76Gln)
|
rs199579943
|
0.00008
|
NM_007186.6(CEP250):c.305G>A (p.Arg102Gln)
|
rs367689090
|
0.00008
|
NM_007186.6(CEP250):c.3256C>T (p.Arg1086Cys)
|
rs143143244
|
0.00008
|
NM_007186.6(CEP250):c.3594G>A (p.Glu1198=)
|
rs201126201
|
0.00008
|
NM_007186.6(CEP250):c.3814C>T (p.Arg1272Cys)
|
rs150723097
|
0.00008
|
NM_007186.6(CEP250):c.4773C>T (p.Thr1591=)
|
rs562343473
|
0.00008
|
NM_007186.6(CEP250):c.5125C>T (p.Arg1709Trp)
|
rs557321271
|
0.00008
|
NM_007186.6(CEP250):c.566G>A (p.Arg189His)
|
rs138289150
|
0.00008
|
NM_007186.6(CEP250):c.5855C>G (p.Ser1952Cys)
|
rs371486127
|
0.00008
|
NM_007186.6(CEP250):c.851+6A>G
|
rs376343130
|
0.00008
|
NM_007186.6(CEP250):c.1210-14C>T
|
rs762633725
|
0.00007
|
NM_007186.6(CEP250):c.1210-4A>G
|
rs200428450
|
0.00007
|
NM_007186.6(CEP250):c.1463G>A (p.Arg488His)
|
rs577762612
|
0.00007
|
NM_007186.6(CEP250):c.2249G>A (p.Arg750His)
|
rs201775017
|
0.00007
|
NM_007186.6(CEP250):c.247C>T (p.Pro83Ser)
|
rs202086265
|
0.00007
|
NM_007186.6(CEP250):c.2889+18G>A
|
rs758185653
|
0.00007
|
NM_007186.6(CEP250):c.3399C>T (p.Ile1133=)
|
rs758908106
|
0.00007
|
NM_007186.6(CEP250):c.5010C>G (p.Leu1670=)
|
rs200762282
|
0.00007
|
NM_007186.6(CEP250):c.5572C>A (p.His1858Asn)
|
rs200268845
|
0.00007
|
NM_007186.6(CEP250):c.5931G>A (p.Leu1977=)
|
rs371750837
|
0.00007
|
NM_007186.6(CEP250):c.796G>A (p.Glu266Lys)
|
rs374878358
|
0.00007
|
NM_007186.6(CEP250):c.1256T>G (p.Leu419Trp)
|
rs575668907
|
0.00006
|
NM_007186.6(CEP250):c.1394G>T (p.Arg465Leu)
|
rs765132427
|
0.00006
|
NM_007186.6(CEP250):c.2332C>A (p.Gln778Lys)
|
rs570637370
|
0.00006
|
NM_007186.6(CEP250):c.244-4G>A
|
rs777093587
|
0.00006
|
NM_007186.6(CEP250):c.2597G>A (p.Arg866His)
|
rs573133591
|
0.00006
|
NM_007186.6(CEP250):c.3387G>A (p.Glu1129=)
|
rs764500594
|
0.00006
|
NM_007186.6(CEP250):c.3453A>G (p.Gln1151=)
|
rs527333329
|
0.00006
|
NM_007186.6(CEP250):c.4068G>C (p.Gln1356His)
|
rs145316023
|
0.00006
|
NM_007186.6(CEP250):c.4148C>T (p.Thr1383Met)
|
rs758095541
|
0.00006
|
NM_007186.6(CEP250):c.5027G>A (p.Arg1676Gln)
|
rs199897634
|
0.00006
|
NM_007186.6(CEP250):c.5162G>A (p.Arg1721His)
|
rs375993979
|
0.00006
|
NM_007186.6(CEP250):c.522C>T (p.His174=)
|
rs770748663
|
0.00006
|
NM_007186.6(CEP250):c.5253C>G (p.Leu1751=)
|
rs373046815
|
0.00006
|
NM_007186.6(CEP250):c.5884C>T (p.Arg1962Trp)
|
rs775658359
|
0.00006
|
NM_007186.6(CEP250):c.5955C>T (p.Leu1985=)
|
rs569215874
|
0.00006
|
NM_007186.6(CEP250):c.5963C>T (p.Ala1988Val)
|
rs140286792
|
0.00006
|
NM_007186.6(CEP250):c.6307C>G (p.Leu2103Val)
|
rs76891244
|
0.00006
|
NM_007186.6(CEP250):c.6373T>C (p.Leu2125=)
|
rs762607625
|
0.00006
|
NM_007186.6(CEP250):c.6400A>G (p.Met2134Val)
|
rs199936529
|
0.00006
|
NM_007186.6(CEP250):c.6522G>A (p.Gln2174=)
|
rs202083340
|
0.00006
|
NM_007186.6(CEP250):c.6546G>T (p.Gln2182His)
|
rs763994225
|
0.00006
|
NM_007186.6(CEP250):c.1783C>T (p.Arg595Trp)
|
rs201227843
|
0.00005
|
NM_007186.6(CEP250):c.2099G>A (p.Arg700His)
|
rs377363130
|
0.00005
|
NM_007186.6(CEP250):c.2156G>A (p.Arg719Gln)
|
rs748499812
|
0.00005
|
NM_007186.6(CEP250):c.2758C>G (p.Gln920Glu)
|
rs370665462
|
0.00005
|
NM_007186.6(CEP250):c.2784A>T (p.Val928=)
|
rs781676671
|
0.00005
|
NM_007186.6(CEP250):c.3257G>A (p.Arg1086His)
|
rs745957253
|
0.00005
|
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val)
|
rs199592435
|
0.00005
|
NM_007186.6(CEP250):c.3982C>T (p.Arg1328Cys)
|
rs747999521
|
0.00005
|
NM_007186.6(CEP250):c.5812C>T (p.Arg1938Trp)
|
rs548722507
|
0.00005
|
NM_007186.6(CEP250):c.6083A>T (p.Asp2028Val)
|
rs142635809
|
0.00005
|
NM_007186.6(CEP250):c.6169C>T (p.Arg2057Trp)
|
rs149277986
|
0.00005
|
NM_007186.6(CEP250):c.6871C>T (p.Arg2291Cys)
|
rs772146999
|
0.00005
|
NM_007186.6(CEP250):c.1085G>C (p.Gly362Ala)
|
rs116172871
|
0.00004
|
NM_007186.6(CEP250):c.1159G>T (p.Ala387Ser)
|
rs770666823
|
0.00004
|
NM_007186.6(CEP250):c.1189C>T (p.Arg397Trp)
|
rs187123562
|
0.00004
|
NM_007186.6(CEP250):c.1388+10C>T
|
rs202070155
|
0.00004
|
NM_007186.6(CEP250):c.1555C>T (p.Arg519Trp)
|
rs369614541
|
0.00004
|
NM_007186.6(CEP250):c.1578G>A (p.Glu526=)
|
rs780153353
|
0.00004
|
NM_007186.6(CEP250):c.1610A>G (p.Glu537Gly)
|
rs760339581
|
0.00004
|
NM_007186.6(CEP250):c.1706C>T (p.Ala569Val)
|
rs780173303
|
0.00004
|
NM_007186.6(CEP250):c.1716+4C>T
|
rs1241548210
|
0.00004
|
NM_007186.6(CEP250):c.1784G>A (p.Arg595Gln)
|
rs765356303
|
0.00004
|
NM_007186.6(CEP250):c.1943C>T (p.Ala648Val)
|
rs531444330
|
0.00004
|
NM_007186.6(CEP250):c.2197G>A (p.Ala733Thr)
|
rs376769176
|
0.00004
|
NM_007186.6(CEP250):c.2254C>T (p.Arg752Trp)
|
rs114785942
|
0.00004
|
NM_007186.6(CEP250):c.2255G>A (p.Arg752Gln)
|
rs376106638
|
0.00004
|
NM_007186.6(CEP250):c.2456G>A (p.Arg819Gln)
|
rs199866080
|
0.00004
|
NM_007186.6(CEP250):c.2526T>C (p.Thr842=)
|
rs369949999
|
0.00004
|
NM_007186.6(CEP250):c.2540A>G (p.Gln847Arg)
|
rs771713524
|
0.00004
|
NM_007186.6(CEP250):c.2755-16C>G
|
rs578203793
|
0.00004
|
NM_007186.6(CEP250):c.2811G>A (p.Thr937=)
|
rs749494768
|
0.00004
|
NM_007186.6(CEP250):c.2890-8C>T
|
rs776405843
|
0.00004
|
NM_007186.6(CEP250):c.2932C>T (p.Arg978Trp)
|
rs376499964
|
0.00004
|
NM_007186.6(CEP250):c.3229A>G (p.Ile1077Val)
|
rs780555640
|
0.00004
|
NM_007186.6(CEP250):c.327-4G>A
|
rs375458172
|
0.00004
|
NM_007186.6(CEP250):c.3306+8C>G
|
rs370100138
|
0.00004
|
NM_007186.6(CEP250):c.3307-10T>C
|
rs775618192
|
0.00004
|
NM_007186.6(CEP250):c.3424T>C (p.Leu1142=)
|
rs746080538
|
0.00004
|
NM_007186.6(CEP250):c.3470G>A (p.Arg1157His)
|
rs757635678
|
0.00004
|
NM_007186.6(CEP250):c.3517G>A (p.Gly1173Arg)
|
rs377120249
|
0.00004
|
NM_007186.6(CEP250):c.353C>T (p.Thr118Ile)
|
rs369894925
|
0.00004
|
NM_007186.6(CEP250):c.3715G>A (p.Glu1239Lys)
|
rs762565763
|
0.00004
|
NM_007186.6(CEP250):c.3815G>A (p.Arg1272His)
|
rs770550852
|
0.00004
|
NM_007186.6(CEP250):c.3935A>C (p.Glu1312Ala)
|
rs766723321
|
0.00004
|
NM_007186.6(CEP250):c.3988C>T (p.Arg1330Trp)
|
rs773111712
|
0.00004
|
NM_007186.6(CEP250):c.4069G>A (p.Val1357Met)
|
rs761101944
|
0.00004
|
NM_007186.6(CEP250):c.4227C>T (p.Gly1409=)
|
rs147073538
|
0.00004
|
NM_007186.6(CEP250):c.4321C>T (p.Arg1441Trp)
|
rs533821058
|
0.00004
|
NM_007186.6(CEP250):c.4352G>A (p.Arg1451Gln)
|
rs142385694
|
0.00004
|
NM_007186.6(CEP250):c.4357A>G (p.Met1453Val)
|
rs755129565
|
0.00004
|
NM_007186.6(CEP250):c.4566C>T (p.Asn1522=)
|
rs376332581
|
0.00004
|
NM_007186.6(CEP250):c.4641C>A (p.Asp1547Glu)
|
rs756300112
|
0.00004
|
NM_007186.6(CEP250):c.4889A>G (p.Gln1630Arg)
|
rs760716080
|
0.00004
|
NM_007186.6(CEP250):c.4918G>A (p.Glu1640Lys)
|
rs755541063
|
0.00004
|
NM_007186.6(CEP250):c.5554A>G (p.Met1852Val)
|
rs199900436
|
0.00004
|
NM_007186.6(CEP250):c.5642G>A (p.Arg1881Gln)
|
rs145352934
|
0.00004
|
NM_007186.6(CEP250):c.5947C>T (p.His1983Tyr)
|
rs1013360865
|
0.00004
|
NM_007186.6(CEP250):c.6447G>A (p.Gln2149=)
|
rs985469451
|
0.00004
|
NM_007186.6(CEP250):c.6496G>A (p.Glu2166Lys)
|
rs959584807
|
0.00004
|
NM_007186.6(CEP250):c.6543G>A (p.Ala2181=)
|
rs373000443
|
0.00004
|
NM_007186.6(CEP250):c.6545A>C (p.Gln2182Pro)
|
rs149811081
|
0.00004
|
NM_007186.6(CEP250):c.6556A>G (p.Ser2186Gly)
|
rs753684828
|
0.00004
|
NM_007186.6(CEP250):c.6658C>T (p.Arg2220Trp)
|
rs199913444
|
0.00004
|
NM_007186.6(CEP250):c.6761T>C (p.Val2254Ala)
|
rs774223309
|
0.00004
|
NM_007186.6(CEP250):c.7100G>A (p.Arg2367Gln)
|
rs138549858
|
0.00004
|
NM_007186.6(CEP250):c.7163A>G (p.His2388Arg)
|
rs772480349
|
0.00004
|
NM_007186.6(CEP250):c.777A>G (p.Glu259=)
|
rs370716775
|
0.00004
|
NM_007186.6(CEP250):c.858C>T (p.Thr286=)
|
rs772516342
|
0.00004
|
NM_007186.6(CEP250):c.913A>G (p.Met305Val)
|
rs146309487
|
0.00004
|
NM_007186.6(CEP250):c.1050+15C>G
|
rs757809499
|
0.00003
|
NM_007186.6(CEP250):c.1062A>G (p.Glu354=)
|
rs116735629
|
0.00003
|
NM_007186.6(CEP250):c.158C>A (p.Ala53Glu)
|
rs1362290736
|
0.00003
|
NM_007186.6(CEP250):c.1675C>A (p.Leu559Met)
|
rs201427125
|
0.00003
|
NM_007186.6(CEP250):c.1689A>C (p.Gln563His)
|
rs752059639
|
0.00003
|
NM_007186.6(CEP250):c.1894A>G (p.Arg632Gly)
|
rs754556013
|
0.00003
|
NM_007186.6(CEP250):c.1917G>A (p.Ala639=)
|
rs1258544220
|
0.00003
|
NM_007186.6(CEP250):c.1980G>T (p.Lys660Asn)
|
rs753576216
|
0.00003
|
NM_007186.6(CEP250):c.2032C>G (p.Leu678Val)
|
rs778549244
|
0.00003
|
NM_007186.6(CEP250):c.2094+1G>A
|
rs762000140
|
0.00003
|
NM_007186.6(CEP250):c.2725C>T (p.Arg909Trp)
|
rs769974123
|
0.00003
|
NM_007186.6(CEP250):c.3401C>T (p.Thr1134Met)
|
rs545422424
|
0.00003
|
NM_007186.6(CEP250):c.3474C>A (p.Ser1158Arg)
|
rs765946133
|
0.00003
|
NM_007186.6(CEP250):c.3499G>T (p.Ala1167Ser)
|
rs201801448
|
0.00003
|
NM_007186.6(CEP250):c.3575C>A (p.Ala1192Asp)
|
rs369355571
|
0.00003
|
NM_007186.6(CEP250):c.3581G>A (p.Gly1194Glu)
|
rs372516061
|
0.00003
|
NM_007186.6(CEP250):c.3675C>T (p.Ser1225=)
|
rs371562704
|
0.00003
|
NM_007186.6(CEP250):c.4189A>G (p.Ser1397Gly)
|
rs778997715
|
0.00003
|
NM_007186.6(CEP250):c.4275C>G (p.Leu1425=)
|
rs368599735
|
0.00003
|
NM_007186.6(CEP250):c.439C>T (p.Arg147Trp)
|
rs941233169
|
0.00003
|
NM_007186.6(CEP250):c.4438C>A (p.Gln1480Lys)
|
rs200729972
|
0.00003
|
NM_007186.6(CEP250):c.4796A>G (p.Glu1599Gly)
|
rs764291685
|
0.00003
|
NM_007186.6(CEP250):c.4879G>A (p.Glu1627Lys)
|
rs771919399
|
0.00003
|
NM_007186.6(CEP250):c.527G>A (p.Arg176His)
|
rs201927235
|
0.00003
|
NM_007186.6(CEP250):c.5615A>T (p.Glu1872Val)
|
rs1381077298
|
0.00003
|
NM_007186.6(CEP250):c.5790G>A (p.Gln1930=)
|
rs761574175
|
0.00003
|
NM_007186.6(CEP250):c.6392C>T (p.Thr2131Ile)
|
rs367689715
|
0.00003
|
NM_007186.6(CEP250):c.6532C>T (p.Leu2178Phe)
|
rs369913865
|
0.00003
|
NM_007186.6(CEP250):c.6750+17G>A
|
rs764589550
|
0.00003
|
NM_007186.6(CEP250):c.6946C>T (p.Arg2316Cys)
|
rs546441918
|
0.00003
|
NM_007186.6(CEP250):c.700G>A (p.Gly234Arg)
|
rs774719815
|
0.00003
|
NM_007186.6(CEP250):c.7140C>T (p.Thr2380=)
|
rs199835017
|
0.00003
|
NM_007186.6(CEP250):c.1306C>T (p.Arg436Trp)
|
rs767447175
|
0.00002
|
NM_007186.6(CEP250):c.1351A>G (p.Thr451Ala)
|
rs1204430383
|
0.00002
|
NM_007186.6(CEP250):c.1389-7C>A
|
rs776659605
|
0.00002
|
NM_007186.6(CEP250):c.1469G>A (p.Arg490Gln)
|
rs759579361
|
0.00002
|
NM_007186.6(CEP250):c.1502A>T (p.Asp501Val)
|
rs1170253093
|
0.00002
|
NM_007186.6(CEP250):c.1571T>C (p.Leu524Pro)
|
rs1362624389
|
0.00002
|
NM_007186.6(CEP250):c.1852C>A (p.Gln618Lys)
|
rs748842443
|
0.00002
|
NM_007186.6(CEP250):c.200G>A (p.Arg67Gln)
|
rs754042296
|
0.00002
|
NM_007186.6(CEP250):c.2209G>A (p.Glu737Lys)
|
rs115892599
|
0.00002
|
NM_007186.6(CEP250):c.2755-17C>T
|
rs750186084
|
0.00002
|
NM_007186.6(CEP250):c.3083T>C (p.Leu1028Pro)
|
rs116895236
|
0.00002
|
NM_007186.6(CEP250):c.3264C>T (p.Asp1088=)
|
rs776575435
|
0.00002
|
NM_007186.6(CEP250):c.3336A>G (p.Glu1112=)
|
rs2063881623
|
0.00002
|
NM_007186.6(CEP250):c.3389C>T (p.Ala1130Val)
|
rs376566049
|
0.00002
|
NM_007186.6(CEP250):c.3551G>A (p.Ser1184Asn)
|
rs768698333
|
0.00002
|
NM_007186.6(CEP250):c.3637G>A (p.Val1213Ile)
|
rs781181484
|
0.00002
|
NM_007186.6(CEP250):c.3649G>C (p.Glu1217Gln)
|
rs770036099
|
0.00002
|
NM_007186.6(CEP250):c.3899-6T>G
|
rs771741325
|
0.00002
|
NM_007186.6(CEP250):c.3983G>A (p.Arg1328His)
|
rs769794651
|
0.00002
|
NM_007186.6(CEP250):c.399C>T (p.Ala133=)
|
rs749565417
|
0.00002
|
NM_007186.6(CEP250):c.4028G>A (p.Arg1343Gln)
|
rs368716170
|
0.00002
|
NM_007186.6(CEP250):c.412G>A (p.Val138Met)
|
rs776162097
|
0.00002
|
NM_007186.6(CEP250):c.4168C>G (p.Leu1390Val)
|
rs777670042
|
0.00002
|
NM_007186.6(CEP250):c.4196G>A (p.Arg1399His)
|
rs772173920
|
0.00002
|
NM_007186.6(CEP250):c.4336G>C (p.Glu1446Gln)
|
rs757112602
|
0.00002
|
NM_007186.6(CEP250):c.440G>A (p.Arg147Gln)
|
rs772076350
|
0.00002
|
NM_007186.6(CEP250):c.446G>A (p.Arg149Gln)
|
rs763474027
|
0.00002
|
NM_007186.6(CEP250):c.461G>A (p.Arg154Lys)
|
rs375906452
|
0.00002
|
NM_007186.6(CEP250):c.4620C>T (p.Ser1540=)
|
rs767547469
|
0.00002
|
NM_007186.6(CEP250):c.4738G>A (p.Glu1580Lys)
|
rs762718386
|
0.00002
|
NM_007186.6(CEP250):c.5089C>T (p.Arg1697Trp)
|
rs200384192
|
0.00002
|
NM_007186.6(CEP250):c.5187G>C (p.Leu1729=)
|
rs774621453
|
0.00002
|
NM_007186.6(CEP250):c.5195G>A (p.Arg1732His)
|
rs775863903
|
0.00002
|
NM_007186.6(CEP250):c.5339T>C (p.Ile1780Thr)
|
rs777106939
|
0.00002
|
NM_007186.6(CEP250):c.545G>A (p.Arg182Gln)
|
rs762645568
|
0.00002
|
NM_007186.6(CEP250):c.5523C>T (p.Asp1841=)
|
rs943676339
|
0.00002
|
NM_007186.6(CEP250):c.5527C>T (p.Leu1843Phe)
|
rs768979527
|
0.00002
|
NM_007186.6(CEP250):c.5660A>G (p.Glu1887Gly)
|
rs768431825
|
0.00002
|
NM_007186.6(CEP250):c.5689C>T (p.Arg1897Trp)
|
rs142451996
|
0.00002
|
NM_007186.6(CEP250):c.5920C>T (p.His1974Tyr)
|
rs762704919
|
0.00002
|
NM_007186.6(CEP250):c.5922T>C (p.His1974=)
|
rs1397022481
|
0.00002
|
NM_007186.6(CEP250):c.6177G>A (p.Gln2059=)
|
rs112052000
|
0.00002
|
NM_007186.6(CEP250):c.6270G>C (p.Arg2090Ser)
|
rs751323505
|
0.00002
|
NM_007186.6(CEP250):c.6462G>A (p.Arg2154=)
|
rs1163366076
|
0.00002
|
NM_007186.6(CEP250):c.6745G>A (p.Gly2249Arg)
|
rs774504786
|
0.00002
|
NM_007186.6(CEP250):c.6966C>G (p.Ser2322=)
|
rs368667877
|
0.00002
|
NM_007186.6(CEP250):c.6967C>G (p.Leu2323Val)
|
rs114152601
|
0.00002
|
NM_007186.6(CEP250):c.7065G>A (p.Glu2355=)
|
rs764790289
|
0.00002
|
NM_007186.6(CEP250):c.7294C>A (p.Pro2432Thr)
|
rs201574445
|
0.00002
|
NM_007186.6(CEP250):c.7310C>T (p.Thr2437Ile)
|
rs780500723
|
0.00002
|
NM_007186.6(CEP250):c.7318G>A (p.Ala2440Thr)
|
rs748792917
|
0.00002
|
NM_007186.6(CEP250):c.850C>T (p.Arg284Trp)
|
rs746586998
|
0.00002
|
NM_007186.6(CEP250):c.1050+11G>A
|
rs1161179223
|
0.00001
|
NM_007186.6(CEP250):c.1115A>C (p.Asp372Ala)
|
rs981413111
|
0.00001
|
NM_007186.6(CEP250):c.1150G>A (p.Ala384Thr)
|
rs535076676
|
0.00001
|
NM_007186.6(CEP250):c.1158G>A (p.Lys386=)
|
rs1186738262
|
0.00001
|
NM_007186.6(CEP250):c.1190G>A (p.Arg397Gln)
|
rs766701871
|
0.00001
|
NM_007186.6(CEP250):c.1195C>T (p.Arg399Cys)
|
rs756430899
|
0.00001
|
NM_007186.6(CEP250):c.1196G>A (p.Arg399His)
|
rs773605537
|
0.00001
|
NM_007186.6(CEP250):c.119G>A (p.Arg40Gln)
|
rs547906210
|
0.00001
|
NM_007186.6(CEP250):c.1210-13T>C
|
rs763713634
|
0.00001
|
NM_007186.6(CEP250):c.1211A>G (p.Asp404Gly)
|
rs751646493
|
0.00001
|
NM_007186.6(CEP250):c.1243G>T (p.Ala415Ser)
|
rs568247716
|
0.00001
|
NM_007186.6(CEP250):c.1257G>A (p.Leu419=)
|
rs759999716
|
0.00001
|
NM_007186.6(CEP250):c.1296C>T (p.Ala432=)
|
rs2063077925
|
0.00001
|
NM_007186.6(CEP250):c.1302A>G (p.Arg434=)
|
rs761966498
|
0.00001
|
NM_007186.6(CEP250):c.1330C>T (p.Arg444Trp)
|
rs371673891
|
0.00001
|
NM_007186.6(CEP250):c.1331G>A (p.Arg444Gln)
|
rs374940278
|
0.00001
|
NM_007186.6(CEP250):c.1416G>A (p.Arg472=)
|
rs780642468
|
0.00001
|
NM_007186.6(CEP250):c.1468C>T (p.Arg490Ter)
|
rs776554898
|
0.00001
|
NM_007186.6(CEP250):c.1596A>G (p.Glu532=)
|
rs774206252
|
0.00001
|
NM_007186.6(CEP250):c.1637G>A (p.Arg546Gln)
|
rs776264848
|
0.00001
|
NM_007186.6(CEP250):c.1644C>T (p.Ala548=)
|
rs2063148204
|
0.00001
|
NM_007186.6(CEP250):c.1701C>T (p.Thr567=)
|
rs750652322
|
0.00001
|
NM_007186.6(CEP250):c.1707G>A (p.Ala569=)
|
rs369931804
|
0.00001
|
NM_007186.6(CEP250):c.1716+12C>T
|
rs746695375
|
0.00001
|
NM_007186.6(CEP250):c.1716+8G>T
|
rs771799234
|
0.00001
|
NM_007186.6(CEP250):c.1717-14T>A
|
rs745482365
|
0.00001
|
NM_007186.6(CEP250):c.1742C>T (p.Ser581Leu)
|
rs773533323
|
0.00001
|
NM_007186.6(CEP250):c.1825G>A (p.Ala609Thr)
|
rs751407265
|
0.00001
|
NM_007186.6(CEP250):c.186+19T>A
|
rs758279493
|
0.00001
|
NM_007186.6(CEP250):c.1864-15C>G
|
rs368522655
|
0.00001
|
NM_007186.6(CEP250):c.1923T>C (p.Asn641=)
|
rs1207643632
|
0.00001
|
NM_007186.6(CEP250):c.1946A>G (p.Glu649Gly)
|
rs1328924790
|
0.00001
|
NM_007186.6(CEP250):c.2018A>G (p.Glu673Gly)
|
rs1426141323
|
0.00001
|
NM_007186.6(CEP250):c.2039C>T (p.Ala680Val)
|
rs1298763139
|
0.00001
|
NM_007186.6(CEP250):c.2064G>A (p.Glu688=)
|
rs147408283
|
0.00001
|
NM_007186.6(CEP250):c.2078A>G (p.Gln693Arg)
|
rs375021604
|
0.00001
|
NM_007186.6(CEP250):c.2193G>C (p.Lys731Asn)
|
rs1318845855
|
0.00001
|
NM_007186.6(CEP250):c.2217G>A (p.Ala739=)
|
rs1462149509
|
0.00001
|
NM_007186.6(CEP250):c.2232G>T (p.Arg744=)
|
rs772348458
|
0.00001
|
NM_007186.6(CEP250):c.2248C>T (p.Arg750Cys)
|
rs1023005712
|
0.00001
|
NM_007186.6(CEP250):c.2262C>T (p.Asp754=)
|
rs776467382
|
0.00001
|
NM_007186.6(CEP250):c.2266G>A (p.Ala756Thr)
|
rs143763293
|
0.00001
|
NM_007186.6(CEP250):c.2288+8C>A
|
rs767021030
|
0.00001
|
NM_007186.6(CEP250):c.2348T>C (p.Ile783Thr)
|
rs761502389
|
0.00001
|
NM_007186.6(CEP250):c.2370G>A (p.Leu790=)
|
rs2063286789
|
0.00001
|
NM_007186.6(CEP250):c.2427G>A (p.Arg809=)
|
rs1207404389
|
0.00001
|
NM_007186.6(CEP250):c.244-9C>A
|
rs1192665375
|
0.00001
|
NM_007186.6(CEP250):c.245G>A (p.Gly82Glu)
|
rs1182415907
|
0.00001
|
NM_007186.6(CEP250):c.2476C>T (p.Arg826Trp)
|
rs756221157
|
0.00001
|
NM_007186.6(CEP250):c.2486C>T (p.Ala829Val)
|
rs1383273053
|
0.00001
|
NM_007186.6(CEP250):c.248C>T (p.Pro83Leu)
|
rs539687407
|
0.00001
|
NM_007186.6(CEP250):c.2499G>A (p.Leu833=)
|
rs377301561
|
0.00001
|
NM_007186.6(CEP250):c.2519G>C (p.Gly840Ala)
|
rs1366448259
|
0.00001
|
NM_007186.6(CEP250):c.2531T>C (p.Leu844Ser)
|
rs747984135
|
0.00001
|
NM_007186.6(CEP250):c.2535G>A (p.Glu845=)
|
rs1348006329
|
0.00001
|
NM_007186.6(CEP250):c.2549C>T (p.Ala850Val)
|
rs777598399
|
0.00001
|
NM_007186.6(CEP250):c.2555A>G (p.Glu852Gly)
|
rs1227825658
|
0.00001
|
NM_007186.6(CEP250):c.2569C>A (p.Gln857Lys)
|
rs1487610954
|
0.00001
|
NM_007186.6(CEP250):c.2575C>T (p.Arg859Trp)
|
rs557810123
|
0.00001
|
NM_007186.6(CEP250):c.2578G>C (p.Glu860Gln)
|
rs1202344010
|
0.00001
|
NM_007186.6(CEP250):c.2586+10C>A
|
rs1402436560
|
0.00001
|
NM_007186.6(CEP250):c.2586+20G>A
|
rs762264533
|
0.00001
|
NM_007186.6(CEP250):c.2685G>A (p.Gln895=)
|
rs944010816
|
0.00001
|
NM_007186.6(CEP250):c.2691A>G (p.Glu897=)
|
rs772570141
|
0.00001
|
NM_007186.6(CEP250):c.2726G>A (p.Arg909Gln)
|
rs775429730
|
0.00001
|
NM_007186.6(CEP250):c.277G>A (p.Glu93Lys)
|
rs374590661
|
0.00001
|
NM_007186.6(CEP250):c.280C>A (p.Pro94Thr)
|
rs1329786176
|
0.00001
|
NM_007186.6(CEP250):c.2829T>C (p.Asp943=)
|
rs764980962
|
0.00001
|
NM_007186.6(CEP250):c.283A>G (p.Asn95Asp)
|
rs2062863551
|
0.00001
|
NM_007186.6(CEP250):c.2909A>C (p.Gln970Pro)
|
rs762402549
|
0.00001
|
NM_007186.6(CEP250):c.3008A>T (p.Gln1003Leu)
|
rs765672057
|
0.00001
|
NM_007186.6(CEP250):c.3029A>C (p.Lys1010Thr)
|
rs751672702
|
0.00001
|
NM_007186.6(CEP250):c.3030G>A (p.Lys1010=)
|
rs1400872105
|
0.00001
|
NM_007186.6(CEP250):c.3034-13C>G
|
rs1021216847
|
0.00001
|
NM_007186.6(CEP250):c.304C>T (p.Arg102Ter)
|
rs1266064055
|
0.00001
|
NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter)
|
rs1243282597
|
0.00001
|
NM_007186.6(CEP250):c.3134G>A (p.Arg1045Gln)
|
rs763406705
|
0.00001
|
NM_007186.6(CEP250):c.3144G>A (p.Lys1048=)
|
rs372995024
|
0.00001
|
NM_007186.6(CEP250):c.3167+15C>T
|
rs370930613
|
0.00001
|
NM_007186.6(CEP250):c.3173C>G (p.Thr1058Ser)
|
rs529608194
|
0.00001
|
NM_007186.6(CEP250):c.326+14A>G
|
rs753370220
|
0.00001
|
NM_007186.6(CEP250):c.3260A>G (p.Gln1087Arg)
|
rs1041975486
|
0.00001
|
NM_007186.6(CEP250):c.3323A>C (p.Gln1108Pro)
|
rs1003254873
|
0.00001
|
NM_007186.6(CEP250):c.3331A>G (p.Lys1111Glu)
|
rs774295146
|
0.00001
|
NM_007186.6(CEP250):c.3369G>C (p.Gln1123His)
|
rs1454881312
|
0.00001
|
NM_007186.6(CEP250):c.3388G>A (p.Ala1130Thr)
|
rs1158173739
|
0.00001
|
NM_007186.6(CEP250):c.3390G>A (p.Ala1130=)
|
rs79678946
|
0.00001
|
NM_007186.6(CEP250):c.3448G>A (p.Ala1150Thr)
|
rs770056831
|
0.00001
|
NM_007186.6(CEP250):c.3464G>A (p.Arg1155Gln)
|
rs768729732
|
0.00001
|
NM_007186.6(CEP250):c.3467T>G (p.Leu1156Arg)
|
rs1441178394
|
0.00001
|
NM_007186.6(CEP250):c.3490G>C (p.Glu1164Gln)
|
rs953836987
|
0.00001
|
NM_007186.6(CEP250):c.3502G>A (p.Ala1168Thr)
|
rs781608093
|
0.00001
|
NM_007186.6(CEP250):c.3516C>T (p.Pro1172=)
|
rs756411662
|
0.00001
|
NM_007186.6(CEP250):c.3530A>C (p.Gln1177Pro)
|
rs554606600
|
0.00001
|
NM_007186.6(CEP250):c.357G>A (p.Gln119=)
|
rs377314862
|
0.00001
|
NM_007186.6(CEP250):c.3610A>G (p.Ser1204Gly)
|
rs965378472
|
0.00001
|
NM_007186.6(CEP250):c.3628G>A (p.Ala1210Thr)
|
rs750270883
|
0.00001
|
NM_007186.6(CEP250):c.3636C>T (p.Ser1212=)
|
rs768771397
|
0.00001
|
NM_007186.6(CEP250):c.3655+4A>T
|
rs1446112141
|
0.00001
|
NM_007186.6(CEP250):c.3704C>T (p.Ala1235Val)
|
rs746352904
|
0.00001
|
NM_007186.6(CEP250):c.3711C>T (p.Ser1237=)
|
rs532232752
|
0.00001
|
NM_007186.6(CEP250):c.3714T>C (p.Ala1238=)
|
rs772988923
|
0.00001
|
NM_007186.6(CEP250):c.3776G>A (p.Arg1259Gln)
|
rs749502180
|
0.00001
|
NM_007186.6(CEP250):c.3799C>T (p.Gln1267Ter)
|
rs200644575
|
0.00001
|
NM_007186.6(CEP250):c.3872A>G (p.Gln1291Arg)
|
rs1248345630
|
0.00001
|
NM_007186.6(CEP250):c.3930C>G (p.Ser1310=)
|
rs775637333
|
0.00001
|
NM_007186.6(CEP250):c.3989G>A (p.Arg1330Gln)
|
rs763131798
|
0.00001
|
NM_007186.6(CEP250):c.4007G>A (p.Arg1336Gln)
|
rs767741329
|
0.00001
|
NM_007186.6(CEP250):c.4021-8T>A
|
rs759462075
|
0.00001
|
NM_007186.6(CEP250):c.4040A>G (p.Gln1347Arg)
|
rs1010390421
|
0.00001
|
NM_007186.6(CEP250):c.4075C>T (p.His1359Tyr)
|
rs370016988
|
0.00001
|
NM_007186.6(CEP250):c.411T>C (p.Asp137=)
|
rs769369386
|
0.00001
|
NM_007186.6(CEP250):c.4151C>T (p.Ala1384Val)
|
rs768983267
|
0.00001
|
NM_007186.6(CEP250):c.4245A>G (p.Gln1415=)
|
rs1299522231
|
0.00001
|
NM_007186.6(CEP250):c.4389G>A (p.Leu1463=)
|
rs2064048529
|
0.00001
|
NM_007186.6(CEP250):c.4435A>G (p.Ile1479Val)
|
rs775005555
|
0.00001
|
NM_007186.6(CEP250):c.4443G>A (p.Glu1481=)
|
rs763763160
|
0.00001
|
NM_007186.6(CEP250):c.4540G>A (p.Glu1514Lys)
|
rs774715998
|
0.00001
|
NM_007186.6(CEP250):c.4567G>A (p.Val1523Ile)
|
rs558321170
|
0.00001
|
NM_007186.6(CEP250):c.4633G>A (p.Val1545Ile)
|
rs1249251601
|
0.00001
|
NM_007186.6(CEP250):c.4736T>A (p.Leu1579Gln)
|
rs1399342319
|
0.00001
|
NM_007186.6(CEP250):c.4839C>T (p.Asp1613=)
|
rs758915146
|
0.00001
|
NM_007186.6(CEP250):c.4841T>C (p.Leu1614Pro)
|
rs2064068521
|
0.00001
|
NM_007186.6(CEP250):c.4857C>T (p.Thr1619=)
|
rs747612043
|
0.00001
|
NM_007186.6(CEP250):c.4858G>T (p.Val1620Phe)
|
rs770116371
|
0.00001
|
NM_007186.6(CEP250):c.4914G>A (p.Gln1638=)
|
rs1289936459
|
0.00001
|
NM_007186.6(CEP250):c.4943A>G (p.His1648Arg)
|
rs182102263
|
0.00001
|
NM_007186.6(CEP250):c.4969G>A (p.Asp1657Asn)
|
rs368334375
|
0.00001
|
NM_007186.6(CEP250):c.5076G>C (p.Leu1692Phe)
|
rs758074500
|
0.00001
|
NM_007186.6(CEP250):c.5115G>A (p.Leu1705=)
|
rs150675259
|
0.00001
|
NM_007186.6(CEP250):c.5126G>A (p.Arg1709Gln)
|
rs767828423
|
0.00001
|
NM_007186.6(CEP250):c.5138G>A (p.Gly1713Glu)
|
rs1041668197
|
0.00001
|
NM_007186.6(CEP250):c.520C>A (p.His174Asn)
|
rs1211197591
|
0.00001
|
NM_007186.6(CEP250):c.523G>A (p.Gly175Ser)
|
rs776545208
|
0.00001
|
NM_007186.6(CEP250):c.5263C>T (p.Leu1755=)
|
rs756049234
|
0.00001
|
NM_007186.6(CEP250):c.5287C>T (p.His1763Tyr)
|
rs370916610
|
0.00001
|
NM_007186.6(CEP250):c.5394G>C (p.Glu1798Asp)
|
rs1568835615
|
0.00001
|
NM_007186.6(CEP250):c.5419G>A (p.Glu1807Lys)
|
rs759174483
|
0.00001
|
NM_007186.6(CEP250):c.5448C>G (p.Asp1816Glu)
|
rs139855716
|
0.00001
|
NM_007186.6(CEP250):c.5538T>C (p.Ala1846=)
|
rs1443144183
|
0.00001
|
NM_007186.6(CEP250):c.5542G>C (p.Glu1848Gln)
|
rs770216974
|
0.00001
|
NM_007186.6(CEP250):c.562C>T (p.Arg188Ter)
|
rs1369076411
|
0.00001
|
NM_007186.6(CEP250):c.5639G>A (p.Arg1880Gln)
|
rs770264607
|
0.00001
|
NM_007186.6(CEP250):c.563G>A (p.Arg188Gln)
|
rs755314316
|
0.00001
|
NM_007186.6(CEP250):c.5725C>T (p.Gln1909Ter)
|
rs766398435
|
0.00001
|
NM_007186.6(CEP250):c.5734G>A (p.Glu1912Lys)
|
rs373721972
|
0.00001
|
NM_007186.6(CEP250):c.5744A>G (p.Gln1915Arg)
|
rs977837059
|
0.00001
|
NM_007186.6(CEP250):c.578A>C (p.Glu193Ala)
|
rs973480161
|
0.00001
|
NM_007186.6(CEP250):c.5813G>A (p.Arg1938Gln)
|
rs767687865
|
0.00001
|
NM_007186.6(CEP250):c.5836C>T (p.Arg1946Trp)
|
rs756392151
|
0.00001
|
NM_007186.6(CEP250):c.5874T>C (p.Ala1958=)
|
rs1436674333
|
0.00001
|
NM_007186.6(CEP250):c.5878C>T (p.Arg1960Trp)
|
rs759442307
|
0.00001
|
NM_007186.6(CEP250):c.5885G>A (p.Arg1962Gln)
|
rs760748107
|
0.00001
|
NM_007186.6(CEP250):c.5923G>T (p.Ala1975Ser)
|
rs758974009
|
0.00001
|
NM_007186.6(CEP250):c.5965G>C (p.Glu1989Gln)
|
rs772057106
|
0.00001
|
NM_007186.6(CEP250):c.5970G>T (p.Leu1990Phe)
|
rs1279155153
|
0.00001
|
NM_007186.6(CEP250):c.5975G>A (p.Arg1992His)
|
rs760800311
|
0.00001
|
NM_007186.6(CEP250):c.598A>G (p.Arg200Gly)
|
rs1423228104
|
0.00001
|
NM_007186.6(CEP250):c.600-18T>C
|
rs1416212486
|
0.00001
|
NM_007186.6(CEP250):c.6018T>C (p.Asp2006=)
|
rs755632405
|
0.00001
|
NM_007186.6(CEP250):c.6038G>A (p.Arg2013Gln)
|
rs373869925
|
0.00001
|
NM_007186.6(CEP250):c.6086A>G (p.Gln2029Arg)
|
rs770146547
|
0.00001
|
NM_007186.6(CEP250):c.6170G>A (p.Arg2057Gln)
|
rs749516825
|
0.00001
|
NM_007186.6(CEP250):c.6372C>T (p.Ala2124=)
|
rs772619850
|
0.00001
|
NM_007186.6(CEP250):c.6409C>G (p.Gln2137Glu)
|
rs369351014
|
0.00001
|
NM_007186.6(CEP250):c.6461G>A (p.Arg2154Gln)
|
rs1478062497
|
0.00001
|
NM_007186.6(CEP250):c.646C>T (p.Leu216=)
|
rs1358595793
|
0.00001
|
NM_007186.6(CEP250):c.6470C>A (p.Ala2157Glu)
|
rs1167675349
|
0.00001
|
NM_007186.6(CEP250):c.6472G>T (p.Ala2158Ser)
|
rs373402717
|
0.00001
|
NM_007186.6(CEP250):c.6501T>C (p.Ile2167=)
|
rs562274381
|
0.00001
|
NM_007186.6(CEP250):c.6515A>G (p.Lys2172Arg)
|
rs781529518
|
0.00001
|
NM_007186.6(CEP250):c.6560T>A (p.Val2187Asp)
|
rs2064143093
|
0.00001
|
NM_007186.6(CEP250):c.656G>C (p.Cys219Ser)
|
rs775896863
|
0.00001
|
NM_007186.6(CEP250):c.6610C>T (p.Arg2204Trp)
|
rs748555397
|
0.00001
|
NM_007186.6(CEP250):c.6613G>A (p.Asp2205Asn)
|
rs370454182
|
0.00001
|
NM_007186.6(CEP250):c.6637-10C>T
|
rs1178445848
|
0.00001
|
NM_007186.6(CEP250):c.6637-19C>T
|
rs373037412
|
0.00001
|
NM_007186.6(CEP250):c.6637-4C>G
|
rs756618230
|
0.00001
|
NM_007186.6(CEP250):c.6684C>G (p.His2228Gln)
|
rs1179460799
|
0.00001
|
NM_007186.6(CEP250):c.6691G>C (p.Gly2231Arg)
|
rs747969822
|
0.00001
|
NM_007186.6(CEP250):c.673G>A (p.Val225Met)
|
rs1253661871
|
0.00001
|
NM_007186.6(CEP250):c.6750+5G>A
|
rs759613012
|
0.00001
|
NM_007186.6(CEP250):c.6774T>C (p.Pro2258=)
|
rs2064243313
|
0.00001
|
NM_007186.6(CEP250):c.6807A>T (p.Arg2269Ser)
|
rs764501654
|
0.00001
|
NM_007186.6(CEP250):c.6832G>T (p.Ala2278Ser)
|
rs780598745
|
0.00001
|
NM_007186.6(CEP250):c.6842G>A (p.Arg2281Gln)
|
rs755779040
|
0.00001
|
NM_007186.6(CEP250):c.6877A>C (p.Asn2293His)
|
rs760918555
|
0.00001
|
NM_007186.6(CEP250):c.6878A>G (p.Asn2293Ser)
|
rs769001536
|
0.00001
|
NM_007186.6(CEP250):c.6889C>T (p.Arg2297Trp)
|
rs777058678
|
0.00001
|
NM_007186.6(CEP250):c.688C>T (p.Arg230Trp)
|
rs1431590253
|
0.00001
|
NM_007186.6(CEP250):c.6898T>C (p.Leu2300=)
|
rs535604273
|
0.00001
|
NM_007186.6(CEP250):c.6919C>T (p.Arg2307Trp)
|
rs915467191
|
0.00001
|
NM_007186.6(CEP250):c.6924G>A (p.Arg2308=)
|
rs2064275492
|
0.00001
|
NM_007186.6(CEP250):c.6950C>T (p.Ala2317Val)
|
rs372133442
|
0.00001
|
NM_007186.6(CEP250):c.6957G>C (p.Gln2319His)
|
rs201729351
|
0.00001
|
NM_007186.6(CEP250):c.6998C>T (p.Pro2333Leu)
|
rs758278372
|
0.00001
|
NM_007186.6(CEP250):c.6999C>G (p.Pro2333=)
|
rs1377537825
|
0.00001
|
NM_007186.6(CEP250):c.6G>A (p.Glu2=)
|
rs778903424
|
0.00001
|
NM_007186.6(CEP250):c.7002A>T (p.Thr2334=)
|
rs780123954
|
0.00001
|
NM_007186.6(CEP250):c.7009-20G>A
|
rs749605016
|
0.00001
|
NM_007186.6(CEP250):c.7084C>T (p.Gln2362Ter)
|
rs769393021
|
0.00001
|
NM_007186.6(CEP250):c.7085A>T (p.Gln2362Leu)
|
rs562851586
|
0.00001
|
NM_007186.6(CEP250):c.7126C>T (p.Arg2376Cys)
|
rs563013303
|
0.00001
|
NM_007186.6(CEP250):c.7144C>T (p.Arg2382Cys)
|
rs201496220
|
0.00001
|
NM_007186.6(CEP250):c.7145G>A (p.Arg2382His)
|
rs141146763
|
0.00001
|
NM_007186.6(CEP250):c.7169G>A (p.Ser2390Asn)
|
rs1213364534
|
0.00001
|
NM_007186.6(CEP250):c.7192G>A (p.Val2398Met)
|
rs747589645
|
0.00001
|
NM_007186.6(CEP250):c.7235G>A (p.Arg2412His)
|
rs371792771
|
0.00001
|
NM_007186.6(CEP250):c.729G>A (p.Pro243=)
|
rs747800327
|
0.00001
|
NM_007186.6(CEP250):c.7314A>G (p.Gln2438=)
|
rs747425179
|
0.00001
|
NM_007186.6(CEP250):c.791G>A (p.Ser264Asn)
|
rs761999604
|
0.00001
|
NM_007186.6(CEP250):c.794A>T (p.Gln265Leu)
|
rs750545272
|
0.00001
|
NM_007186.6(CEP250):c.851+8G>A
|
rs371028032
|
0.00001
|
NM_007186.6(CEP250):c.852-11C>T
|
rs755554384
|
0.00001
|
NM_007186.6(CEP250):c.863T>C (p.Leu288Pro)
|
rs747280346
|
0.00001
|
NM_007186.6(CEP250):c.868G>T (p.Ala290Ser)
|
rs776921927
|
0.00001
|
NM_007186.6(CEP250):c.872T>C (p.Leu291Pro)
|
rs1252710595
|
0.00001
|
NM_007186.6(CEP250):c.885T>C (p.Ser295=)
|
rs765175211
|
0.00001
|
NM_007186.6(CEP250):c.949-6G>C
|
rs768722631
|
0.00001
|
NM_007186.6(CEP250):c.986C>T (p.Ser329Phe)
|
rs2063037729
|
0.00001
|
NC_000020.10:g.(?_34050193)_(34099455_?)del
|
|
|
NC_000020.10:g.(?_34060478)_(34060676_?)del
|
|
|
NM_007186.6(CEP250):c.1019C>T (p.Ser340Phe)
|
|
|
NM_007186.6(CEP250):c.1050+18G>A
|
|
|
NM_007186.6(CEP250):c.1050+7G>A
|
|
|
NM_007186.6(CEP250):c.1051-11T>C
|
|
|
NM_007186.6(CEP250):c.1051-12A>T
|
rs1244519062
|
|
NM_007186.6(CEP250):c.1051-20C>G
|
|
|
NM_007186.6(CEP250):c.1066G>T (p.Gly356Trp)
|
rs1461743489
|
|
NM_007186.6(CEP250):c.106G>A (p.Ala36Thr)
|
|
|
NM_007186.6(CEP250):c.1074T>C (p.Asn358=)
|
|
|
NM_007186.6(CEP250):c.1106T>C (p.Leu369Ser)
|
rs2146783460
|
|
NM_007186.6(CEP250):c.1111T>C (p.Leu371=)
|
rs2146783506
|
|
NM_007186.6(CEP250):c.1112T>A (p.Leu371Ter)
|
|
|
NM_007186.6(CEP250):c.1120A>T (p.Ser374Cys)
|
rs755168706
|
|
NM_007186.6(CEP250):c.1133A>C (p.Gln378Pro)
|
|
|
NM_007186.6(CEP250):c.1167T>C (p.Thr389=)
|
rs2146784354
|
|
NM_007186.6(CEP250):c.1175G>A (p.Arg392His)
|
|
|
NM_007186.6(CEP250):c.1175G>T (p.Arg392Leu)
|
rs200471436
|
|
NM_007186.6(CEP250):c.1193G>A (p.Arg398Lys)
|
|
|
NM_007186.6(CEP250):c.1203T>C (p.Ala401=)
|
rs2146785012
|
|
NM_007186.6(CEP250):c.1209+1G>A
|
|
|
NM_007186.6(CEP250):c.1210-4A>C
|
|
|
NM_007186.6(CEP250):c.1212C>T (p.Asp404=)
|
rs2146791947
|
|
NM_007186.6(CEP250):c.1235del (p.Cys412fs)
|
rs2146792205
|
|
NM_007186.6(CEP250):c.123G>C (p.Lys41Asn)
|
rs1259781044
|
|
NM_007186.6(CEP250):c.1242G>A (p.Glu414=)
|
|
|
NM_007186.6(CEP250):c.1242G>C (p.Glu414Asp)
|
rs376842301
|
|
NM_007186.6(CEP250):c.1243G>A (p.Ala415Thr)
|
rs568247716
|
|
NM_007186.6(CEP250):c.1307G>A (p.Arg436Gln)
|
|
|
NM_007186.6(CEP250):c.1315A>C (p.Lys439Gln)
|
rs2063078572
|
|
NM_007186.6(CEP250):c.1320C>T (p.Leu440=)
|
|
|
NM_007186.6(CEP250):c.1329G>A (p.Glu443=)
|
|
|
NM_007186.6(CEP250):c.1342G>A (p.Ala448Thr)
|
|
|
NM_007186.6(CEP250):c.1344A>T (p.Ala448=)
|
|
|
NM_007186.6(CEP250):c.1354G>A (p.Val452Met)
|
rs2063080140
|
|
NM_007186.6(CEP250):c.1383C>G (p.Leu461=)
|
rs773410352
|
|
NM_007186.6(CEP250):c.1388+16G>C
|
|
|
NM_007186.6(CEP250):c.1388+6C>T
|
rs2146794851
|
|
NM_007186.6(CEP250):c.1388+7A>G
|
rs766420065
|
|
NM_007186.6(CEP250):c.1389G>A (p.Lys463=)
|
rs1359060727
|
|
NM_007186.6(CEP250):c.1392G>A (p.Glu464=)
|
|
|
NM_007186.6(CEP250):c.139G>A (p.Glu47Lys)
|
rs2062777969
|
|
NM_007186.6(CEP250):c.1423C>T (p.Leu475=)
|
|
|
NM_007186.6(CEP250):c.1427G>A (p.Arg476Gln)
|
|
|
NM_007186.6(CEP250):c.1428G>T (p.Arg476=)
|
rs2146799520
|
|
NM_007186.6(CEP250):c.1437G>A (p.Leu479=)
|
|
|
NM_007186.6(CEP250):c.1441G>A (p.Val481Met)
|
rs748465305
|
|
NM_007186.6(CEP250):c.1447G>A (p.Glu483Lys)
|
rs2146799795
|
|
NM_007186.6(CEP250):c.1458A>G (p.Ala486=)
|
|
|
NM_007186.6(CEP250):c.1467G>A (p.Leu489=)
|
|
|
NM_007186.6(CEP250):c.1470A>T (p.Arg490=)
|
|
|
NM_007186.6(CEP250):c.1501G>A (p.Asp501Asn)
|
rs763828103
|
|
NM_007186.6(CEP250):c.1501G>C (p.Asp501His)
|
|
|
NM_007186.6(CEP250):c.1503C>T (p.Asp501=)
|
rs2146801123
|
|
NM_007186.6(CEP250):c.1513G>A (p.Gly505Ser)
|
rs1332642187
|
|
NM_007186.6(CEP250):c.1514G>A (p.Gly505Asp)
|
rs2146801367
|
|
NM_007186.6(CEP250):c.1534G>A (p.Glu512Lys)
|
rs1380228394
|
|
NM_007186.6(CEP250):c.1549G>A (p.Ala517Thr)
|
rs755584093
|
|
NM_007186.6(CEP250):c.1567C>T (p.Arg523Cys)
|
|
|
NM_007186.6(CEP250):c.1571+16C>G
|
rs1406042527
|
|
NM_007186.6(CEP250):c.1571+18C>T
|
|
|
NM_007186.6(CEP250):c.1571+3_1571+6del
|
|
|
NM_007186.6(CEP250):c.1572-16C>T
|
rs756179766
|
|
NM_007186.6(CEP250):c.1572-17T>G
|
|
|
NM_007186.6(CEP250):c.1584G>T (p.Leu528=)
|
rs1042084485
|
|
NM_007186.6(CEP250):c.1585A>G (p.Met529Val)
|
|
|
NM_007186.6(CEP250):c.1597G>A (p.Ala533Thr)
|
rs2146821661
|
|
NM_007186.6(CEP250):c.15C>T (p.Ser5=)
|
|
|
NM_007186.6(CEP250):c.1601_1602delinsGT (p.Lys534Ser)
|
rs2146821765
|
|
NM_007186.6(CEP250):c.1627A>T (p.Ile543Phe)
|
|
|
NM_007186.6(CEP250):c.1636C>T (p.Arg546Trp)
|
rs2063148034
|
|
NM_007186.6(CEP250):c.1652C>A (p.Ser551Ter)
|
rs2146822389
|
|
NM_007186.6(CEP250):c.1659C>G (p.His553Gln)
|
rs1383420557
|
|
NM_007186.6(CEP250):c.1661T>C (p.Leu554Pro)
|
|
|
NM_007186.6(CEP250):c.1675C>T (p.Leu559=)
|
rs201427125
|
|
NM_007186.6(CEP250):c.1691C>A (p.Thr564Lys)
|
|
|
NM_007186.6(CEP250):c.1691C>T (p.Thr564Met)
|
rs757589095
|
|
NM_007186.6(CEP250):c.1692G>A (p.Thr564=)
|
|
|
NM_007186.6(CEP250):c.1710G>T (p.Leu570=)
|
|
|
NM_007186.6(CEP250):c.1716+5G>A
|
rs2063150425
|
|
NM_007186.6(CEP250):c.1717-12T>G
|
|
|
NM_007186.6(CEP250):c.1717-15C>T
|
|
|
NM_007186.6(CEP250):c.1717-16_1717-15insA
|
|
|
NM_007186.6(CEP250):c.1717-3del
|
rs1470901100
|
|
NM_007186.6(CEP250):c.1725G>A (p.Gln575=)
|
rs2146833929
|
|
NM_007186.6(CEP250):c.1729A>C (p.Ile577Leu)
|
|
|
NM_007186.6(CEP250):c.1743G>A (p.Ser581=)
|
rs1027486816
|
|
NM_007186.6(CEP250):c.1758C>T (p.Thr586=)
|
rs2063177658
|
|
NM_007186.6(CEP250):c.1818G>A (p.Glu606=)
|
|
|
NM_007186.6(CEP250):c.1818G>C (p.Glu606Asp)
|
|
|
NM_007186.6(CEP250):c.1824G>C (p.Leu608Phe)
|
|
|
NM_007186.6(CEP250):c.1833T>C (p.Asp611=)
|
rs2146835311
|
|
NM_007186.6(CEP250):c.1841G>T (p.Gly614Val)
|
|
|
NM_007186.6(CEP250):c.1842G>T (p.Gly614=)
|
|
|
NM_007186.6(CEP250):c.186+14C>G
|
rs1269215308
|
|
NM_007186.6(CEP250):c.186+15C>G
|
rs978101644
|
|
NM_007186.6(CEP250):c.186+16T>G
|
|
|
NM_007186.6(CEP250):c.186+18T>C
|
|
|
NM_007186.6(CEP250):c.1863+13T>A
|
rs2146835759
|
|
NM_007186.6(CEP250):c.1863+18T>C
|
|
|
NM_007186.6(CEP250):c.1863+3G>T
|
|
|
NM_007186.6(CEP250):c.1864-16C>G
|
rs2063216830
|
|
NM_007186.6(CEP250):c.1864-19T>C
|
rs2146851943
|
|
NM_007186.6(CEP250):c.1867GAG[2] (p.Glu625del)
|
rs755726097
|
|
NM_007186.6(CEP250):c.187-16G>A
|
|
|
NM_007186.6(CEP250):c.187-16G>C
|
rs760858537
|
|
NM_007186.6(CEP250):c.187-5T>C
|
|
|
NM_007186.6(CEP250):c.1887G>A (p.Val629=)
|
rs779776500
|
|
NM_007186.6(CEP250):c.1887G>T (p.Val629=)
|
|
|
NM_007186.6(CEP250):c.1905C>G (p.Ala635=)
|
rs149559933
|
|
NM_007186.6(CEP250):c.1905C>T (p.Ala635=)
|
rs149559933
|
|
NM_007186.6(CEP250):c.1908A>G (p.Ala636=)
|
rs2146853261
|
|
NM_007186.6(CEP250):c.1933G>A (p.Val645Ile)
|
rs2146853826
|
|
NM_007186.6(CEP250):c.1935C>A (p.Val645=)
|
|
|
NM_007186.6(CEP250):c.1936G>A (p.Asp646Asn)
|
rs1171819903
|
|
NM_007186.6(CEP250):c.1957A>T (p.Arg653Trp)
|
|
|
NM_007186.6(CEP250):c.195G>A (p.Gln65=)
|
|
|
NM_007186.6(CEP250):c.1983C>T (p.Asn661=)
|
rs2146854737
|
|
NM_007186.6(CEP250):c.1990C>G (p.Leu664Val)
|
rs2063222260
|
|
NM_007186.6(CEP250):c.1993G>A (p.Glu665Lys)
|
|
|
NM_007186.6(CEP250):c.199C>T (p.Arg67Ter)
|
|
|
NM_007186.6(CEP250):c.2026G>A (p.Ala676Thr)
|
rs1400411505
|
|
NM_007186.6(CEP250):c.2026G>T (p.Ala676Ser)
|
rs1400411505
|
|
NM_007186.6(CEP250):c.2055C>G (p.Ile685Met)
|
|
|
NM_007186.6(CEP250):c.2094+16G>A
|
|
|
NM_007186.6(CEP250):c.2095-16A>G
|
|
|
NM_007186.6(CEP250):c.2098C>T (p.Arg700Cys)
|
|
|
NM_007186.6(CEP250):c.2113G>T (p.Ala705Ser)
|
|
|
NM_007186.6(CEP250):c.2118C>T (p.Ala706=)
|
|
|
NM_007186.6(CEP250):c.2141A>G (p.His714Arg)
|
rs2146875731
|
|
NM_007186.6(CEP250):c.2155C>T (p.Arg719Ter)
|
rs1051944154
|
|
NM_007186.6(CEP250):c.2163A>G (p.Glu721=)
|
rs2146876211
|
|
NM_007186.6(CEP250):c.2168T>C (p.Val723Ala)
|
rs2146876292
|
|
NM_007186.6(CEP250):c.2199C>T (p.Ala733=)
|
|
|
NM_007186.6(CEP250):c.2200del (p.Ala733_Leu734insTer)
|
|
|
NM_007186.6(CEP250):c.2206C>T (p.Arg736Ter)
|
|
|
NM_007186.6(CEP250):c.2231G>A (p.Arg744Gln)
|
rs993542561
|
|
NM_007186.6(CEP250):c.2239G>T (p.Ala747Ser)
|
|
|
NM_007186.6(CEP250):c.2241C>T (p.Ala747=)
|
|
|
NM_007186.6(CEP250):c.2259G>A (p.Gln753=)
|
|
|
NM_007186.6(CEP250):c.2263C>T (p.Leu755Phe)
|
rs745788644
|
|
NM_007186.6(CEP250):c.2283G>A (p.Gly761=)
|
|
|
NM_007186.6(CEP250):c.2288+13C>T
|
|
|
NM_007186.6(CEP250):c.2288+2T>C
|
|
|
NM_007186.6(CEP250):c.2288+7C>T
|
rs2146879072
|
|
NM_007186.6(CEP250):c.2288+9C>G
|
rs754348414
|
|
NM_007186.6(CEP250):c.2289-15del
|
rs766236201
|
|
NM_007186.6(CEP250):c.2289-7del
|
|
|
NM_007186.6(CEP250):c.228G>A (p.Arg76=)
|
|
|
NM_007186.6(CEP250):c.228G>T (p.Arg76=)
|
rs780891583
|
|
NM_007186.6(CEP250):c.2311A>G (p.Ser771Gly)
|
rs2146882443
|
|
NM_007186.6(CEP250):c.2314A>T (p.Ser772Cys)
|
rs2146882478
|
|
NM_007186.6(CEP250):c.2347A>G (p.Ile783Val)
|
|
|
NM_007186.6(CEP250):c.2355C>T (p.Val785=)
|
rs772770258
|
|
NM_007186.6(CEP250):c.2361G>A (p.Lys787=)
|
rs2146883155
|
|
NM_007186.6(CEP250):c.2383C>T (p.Gln795Ter)
|
rs2063287444
|
|
NM_007186.6(CEP250):c.2388dup (p.Val797fs)
|
rs1398367764
|
|
NM_007186.6(CEP250):c.2391C>G (p.Val797=)
|
rs111853969
|
|
NM_007186.6(CEP250):c.2394T>C (p.Thr798=)
|
rs2146883828
|
|
NM_007186.6(CEP250):c.2416+16G>C
|
rs2063290453
|
|
NM_007186.6(CEP250):c.2417-6T>C
|
rs2146887406
|
|
NM_007186.6(CEP250):c.2417-8C>T
|
rs2063298136
|
|
NM_007186.6(CEP250):c.2419G>C (p.Glu807Gln)
|
rs1273285674
|
|
NM_007186.6(CEP250):c.2421A>G (p.Glu807=)
|
|
|
NM_007186.6(CEP250):c.2423T>C (p.Val808Ala)
|
|
|
NM_007186.6(CEP250):c.242G>C (p.Gly81Ala)
|
rs2062807673
|
|
NM_007186.6(CEP250):c.243+12T>C
|
|
|
NM_007186.6(CEP250):c.2432T>C (p.Leu811Pro)
|
rs2146887824
|
|
NM_007186.6(CEP250):c.2433G>A (p.Leu811=)
|
|
|
NM_007186.6(CEP250):c.244-10_244-7del
|
rs745507564
|
|
NM_007186.6(CEP250):c.244-4G>T
|
|
|
NM_007186.6(CEP250):c.244-5C>T
|
rs933523233
|
|
NM_007186.6(CEP250):c.24G>A (p.Leu8=)
|
rs2146670881
|
|
NM_007186.6(CEP250):c.2512del (p.Gln838fs)
|
|
|
NM_007186.6(CEP250):c.2548G>A (p.Ala850Thr)
|
rs2063303331
|
|
NM_007186.6(CEP250):c.255C>A (p.Pro85=)
|
|
|
NM_007186.6(CEP250):c.255C>T (p.Pro85=)
|
rs558154821
|
|
NM_007186.6(CEP250):c.2564dup (p.Asn856fs)
|
|
|
NM_007186.6(CEP250):c.2566A>G (p.Asn856Asp)
|
rs770616514
|
|
NM_007186.6(CEP250):c.256C>G (p.Gln86Glu)
|
|
|
NM_007186.6(CEP250):c.2572C>A (p.Leu858Ile)
|
rs1193178090
|
|
NM_007186.6(CEP250):c.2576G>A (p.Arg859Gln)
|
rs372990292
|
|
NM_007186.6(CEP250):c.2576G>C (p.Arg859Pro)
|
rs372990292
|
|
NM_007186.6(CEP250):c.2586+12A>G
|
rs764076037
|
|
NM_007186.6(CEP250):c.2586+12A>T
|
rs764076037
|
|
NM_007186.6(CEP250):c.2587-14C>T
|
|
|
NM_007186.6(CEP250):c.2587-18T>C
|
rs2147032893
|
|
NM_007186.6(CEP250):c.2596C>T (p.Arg866Cys)
|
rs773558951
|
|
NM_007186.6(CEP250):c.2604G>C (p.Trp868Cys)
|
rs2147033410
|
|
NM_007186.6(CEP250):c.2609A>G (p.Gln870Arg)
|
|
|
NM_007186.6(CEP250):c.263G>A (p.Trp88Ter)
|
rs2062862935
|
|
NM_007186.6(CEP250):c.2644A>C (p.Arg882=)
|
|
|
NM_007186.6(CEP250):c.2647del (p.Glu883fs)
|
|
|
NM_007186.6(CEP250):c.2654T>C (p.Met885Thr)
|
|
|
NM_007186.6(CEP250):c.2654_2675del (p.Met885fs)
|
|
|
NM_007186.6(CEP250):c.2659C>T (p.Leu887=)
|
|
|
NM_007186.6(CEP250):c.2670G>A (p.Arg890=)
|
rs202083231
|
|
NM_007186.6(CEP250):c.2680C>G (p.Gln894Glu)
|
|
|
NM_007186.6(CEP250):c.2707G>A (p.Ala903Thr)
|
rs2063664563
|
|
NM_007186.6(CEP250):c.273G>A (p.Val91=)
|
|
|
NM_007186.6(CEP250):c.274G>A (p.Glu92Lys)
|
rs2146703704
|
|
NM_007186.6(CEP250):c.2755-14dup
|
rs755773363
|
|
NM_007186.6(CEP250):c.2755-15C>G
|
rs1417814109
|
|
NM_007186.6(CEP250):c.2755-15C>T
|
rs1417814109
|
|
NM_007186.6(CEP250):c.2755-16C>T
|
rs578203793
|
|
NM_007186.6(CEP250):c.2773_2775del (p.Lys925del)
|
rs779686566
|
|
NM_007186.6(CEP250):c.2793G>A (p.Leu931=)
|
|
|
NM_007186.6(CEP250):c.2805G>A (p.Leu935=)
|
|
|
NM_007186.6(CEP250):c.2811G>C (p.Thr937=)
|
rs749494768
|
|
NM_007186.6(CEP250):c.2828A>G (p.Asp943Gly)
|
|
|
NM_007186.6(CEP250):c.2832C>T (p.Ala944=)
|
rs892813256
|
|
NM_007186.6(CEP250):c.2848C>T (p.Arg950Ter)
|
rs1388902455
|
|
NM_007186.6(CEP250):c.2849G>A (p.Arg950Gln)
|
|
|
NM_007186.6(CEP250):c.2863A>G (p.Met955Val)
|
rs1462652214
|
|
NM_007186.6(CEP250):c.2867A>G (p.Lys956Arg)
|
rs2063685156
|
|
NM_007186.6(CEP250):c.2889+11_2889+19del
|
rs1205987559
|
|
NM_007186.6(CEP250):c.2889+17C>T
|
|
|
NM_007186.6(CEP250):c.2889+7A>C
|
|
|
NM_007186.6(CEP250):c.2890-17T>G
|
|
|
NM_007186.6(CEP250):c.2890-2A>G
|
rs2063751607
|
|
NM_007186.6(CEP250):c.2890-4T>C
|
rs759259666
|
|
NM_007186.6(CEP250):c.2902A>T (p.Ile968Leu)
|
|
|
NM_007186.6(CEP250):c.2912C>T (p.Thr971Ile)
|
rs569960675
|
|
NM_007186.6(CEP250):c.2913C>T (p.Thr971=)
|
rs750943379
|
|
NM_007186.6(CEP250):c.2930A>G (p.Gln977Arg)
|
|
|
NM_007186.6(CEP250):c.2931A>G (p.Gln977=)
|
|
|
NM_007186.6(CEP250):c.2971C>T (p.Leu991Phe)
|
|
|
NM_007186.6(CEP250):c.2986del (p.Glu996fs)
|
rs2147070761
|
|
NM_007186.6(CEP250):c.2992A>G (p.Ser998Gly)
|
|
|
NM_007186.6(CEP250):c.3003G>A (p.Leu1001=)
|
|
|
NM_007186.6(CEP250):c.3011A>T (p.Asp1004Val)
|
rs2147071095
|
|
NM_007186.6(CEP250):c.3022C>T (p.Leu1008=)
|
|
|
NM_007186.6(CEP250):c.3033+10T>C
|
rs2147071493
|
|
NM_007186.6(CEP250):c.3033+11C>T
|
|
|
NM_007186.6(CEP250):c.3033+12C>G
|
|
|
NM_007186.6(CEP250):c.3033+20C>G
|
rs2147071666
|
|
NM_007186.6(CEP250):c.3034-14C>T
|
|
|
NM_007186.6(CEP250):c.3034-15C>T
|
|
|
NM_007186.6(CEP250):c.3036G>A (p.Val1012=)
|
rs2063782716
|
|
NM_007186.6(CEP250):c.303C>T (p.Val101=)
|
|
|
NM_007186.6(CEP250):c.3060G>C (p.Val1020=)
|
|
|
NM_007186.6(CEP250):c.3073T>A (p.Ser1025Thr)
|
rs1228969350
|
|
NM_007186.6(CEP250):c.3073T>C (p.Ser1025Pro)
|
|
|
NM_007186.6(CEP250):c.3090G>A (p.Glu1030=)
|
|
|
NM_007186.6(CEP250):c.30C>A (p.Asn10Lys)
|
|
|
NM_007186.6(CEP250):c.30C>T (p.Asn10=)
|
|
|
NM_007186.6(CEP250):c.3106A>C (p.Lys1036Gln)
|
rs2147080542
|
|
NM_007186.6(CEP250):c.3108G>A (p.Lys1036=)
|
|
|
NM_007186.6(CEP250):c.3115G>A (p.Glu1039Lys)
|
rs2063785497
|
|
NM_007186.6(CEP250):c.3123G>A (p.Gln1041=)
|
|
|
NM_007186.6(CEP250):c.3126G>A (p.Glu1042=)
|
rs2063785888
|
|
NM_007186.6(CEP250):c.3133C>T (p.Arg1045Ter)
|
|
|
NM_007186.6(CEP250):c.3134G>T (p.Arg1045Leu)
|
rs763406705
|
|
NM_007186.6(CEP250):c.3167+15C>A
|
|
|
NM_007186.6(CEP250):c.3167+18T>C
|
rs2147081561
|
|
NM_007186.6(CEP250):c.3167+2T>C
|
rs910609696
|
|
NM_007186.6(CEP250):c.3167+5G>T
|
rs903593294
|
|
NM_007186.6(CEP250):c.3168-14C>T
|
|
|
NM_007186.6(CEP250):c.3177= (p.Leu1059=)
|
|
|
NM_007186.6(CEP250):c.3178_3179del (p.Ser1060fs)
|
|
|
NM_007186.6(CEP250):c.3188A>C (p.Glu1063Ala)
|
rs2147097201
|
|
NM_007186.6(CEP250):c.3192G>T (p.Lys1064Asn)
|
rs759385715
|
|
NM_007186.6(CEP250):c.3202C>A (p.Leu1068Ile)
|
|
|
NM_007186.6(CEP250):c.3208G>A (p.Val1070Ile)
|
|
|
NM_007186.6(CEP250):c.320A>G (p.Gln107Arg)
|
rs2062864788
|
|
NM_007186.6(CEP250):c.3228T>C (p.Ser1076=)
|
rs2147097468
|
|
NM_007186.6(CEP250):c.3230T>G (p.Ile1077Ser)
|
rs2147097528
|
|
NM_007186.6(CEP250):c.3232C>A (p.Arg1078=)
|
|
|
NM_007186.6(CEP250):c.3233G>A (p.Arg1078Gln)
|
|
|
NM_007186.6(CEP250):c.3251C>T (p.Ala1084Val)
|
rs2063843479
|
|
NM_007186.6(CEP250):c.3254T>C (p.Leu1085Pro)
|
rs2063843633
|
|
NM_007186.6(CEP250):c.326+10C>T
|
|
|
NM_007186.6(CEP250):c.327-15C>A
|
|
|
NM_007186.6(CEP250):c.327-9C>G
|
|
|
NM_007186.6(CEP250):c.3272A>G (p.Glu1091Gly)
|
rs763959807
|
|
NM_007186.6(CEP250):c.3273G>A (p.Glu1091=)
|
rs2147098083
|
|
NM_007186.6(CEP250):c.3275C>T (p.Ala1092Val)
|
|
|
NM_007186.6(CEP250):c.3278A>G (p.Gln1093Arg)
|
|
|
NM_007186.6(CEP250):c.327G>A (p.Arg109=)
|
rs753546802
|
|
NM_007186.6(CEP250):c.3285A>G (p.Glu1095=)
|
rs2147098139
|
|
NM_007186.6(CEP250):c.3292G>C (p.Glu1098Gln)
|
rs917053719
|
|
NM_007186.6(CEP250):c.3306+19A>G
|
rs779431510
|
|
NM_007186.6(CEP250):c.3306+5T>C
|
|
|
NM_007186.6(CEP250):c.3316C>T (p.Leu1106=)
|
|
|
NM_007186.6(CEP250):c.3321G>A (p.Arg1107=)
|
rs2063880814
|
|
NM_007186.6(CEP250):c.3349T>A (p.Phe1117Ile)
|
rs2147106362
|
|
NM_007186.6(CEP250):c.3351T>C (p.Phe1117=)
|
rs2063882004
|
|
NM_007186.6(CEP250):c.3354G>A (p.Leu1118=)
|
rs2147106409
|
|
NM_007186.6(CEP250):c.3366A>G (p.Ala1122=)
|
|
|
NM_007186.6(CEP250):c.337del (p.Ser112_Leu113insTer)
|
rs2146707223
|
|
NM_007186.6(CEP250):c.3389C>A (p.Ala1130Glu)
|
|
|
NM_007186.6(CEP250):c.3390G>C (p.Ala1130=)
|
|
|
NM_007186.6(CEP250):c.3402G>A (p.Thr1134=)
|
rs140984394
|
|
NM_007186.6(CEP250):c.3402G>C (p.Thr1134=)
|
rs140984394
|
|
NM_007186.6(CEP250):c.3427T>C (p.Trp1143Arg)
|
|
|
NM_007186.6(CEP250):c.3458A>C (p.Gln1153Pro)
|
|
|
NM_007186.6(CEP250):c.3468G>T (p.Leu1156=)
|
rs761547955
|
|
NM_007186.6(CEP250):c.3476C>G (p.Thr1159Arg)
|
|
|
NM_007186.6(CEP250):c.3481A>G (p.Ser1161Gly)
|
|
|
NM_007186.6(CEP250):c.3485A>C (p.Gln1162Pro)
|
rs2063888648
|
|
NM_007186.6(CEP250):c.3494C>T (p.Ala1165Val)
|
rs754433427
|
|
NM_007186.6(CEP250):c.3495G>A (p.Ala1165=)
|
rs764615392
|
|
NM_007186.6(CEP250):c.3523C>A (p.Gln1175Lys)
|
rs138159510
|
|
NM_007186.6(CEP250):c.3526GCCCAG[2] (p.1176AQ[2])
|
rs561035032
|
|
NM_007186.6(CEP250):c.3526GCCCAG[4] (p.1176AQ[4])
|
rs561035032
|
|
NM_007186.6(CEP250):c.3528C>T (p.Ala1176=)
|
|
|
NM_007186.6(CEP250):c.3539C>T (p.Ala1180Val)
|
rs2147109279
|
|
NM_007186.6(CEP250):c.3544C>G (p.Leu1182Val)
|
|
|
NM_007186.6(CEP250):c.3547G>A (p.Ala1183Thr)
|
rs1410810070
|
|
NM_007186.6(CEP250):c.3557A>G (p.Tyr1186Cys)
|
|
|
NM_007186.6(CEP250):c.3580G>C (p.Gly1194Arg)
|
|
|
NM_007186.6(CEP250):c.3604G>A (p.Glu1202Lys)
|
|
|
NM_007186.6(CEP250):c.3604_3605delinsAT (p.Glu1202Met)
|
rs2147110130
|
|
NM_007186.6(CEP250):c.3605A>T (p.Glu1202Val)
|
|
|
NM_007186.6(CEP250):c.3616G>C (p.Gly1206Arg)
|
rs377013576
|
|
NM_007186.6(CEP250):c.3616G>T (p.Gly1206Trp)
|
rs377013576
|
|
NM_007186.6(CEP250):c.362G>A (p.Arg121Gln)
|
|
|
NM_007186.6(CEP250):c.3644G>C (p.Gly1215Ala)
|
rs748340283
|
|
NM_007186.6(CEP250):c.3655+17A>G
|
rs771275907
|
|
NM_007186.6(CEP250):c.3656-14C>T
|
rs1275260872
|
|
NM_007186.6(CEP250):c.3656-15T>C
|
|
|
NM_007186.6(CEP250):c.3656-1G>A
|
|
|
NM_007186.6(CEP250):c.3656-4dup
|
|
|
NM_007186.6(CEP250):c.3659A>G (p.Gln1220Arg)
|
rs2063913597
|
|
NM_007186.6(CEP250):c.366G>A (p.Leu122=)
|
|
|
NM_007186.6(CEP250):c.3671G>A (p.Arg1224Lys)
|
rs748250345
|
|
NM_007186.6(CEP250):c.3688G>A (p.Gly1230Arg)
|
|
|
NM_007186.6(CEP250):c.3690G>A (p.Gly1230=)
|
rs2063915065
|
|
NM_007186.6(CEP250):c.369C>T (p.His123=)
|
|
|
NM_007186.6(CEP250):c.3700A>T (p.Thr1234Ser)
|
|
|
NM_007186.6(CEP250):c.370A>T (p.Met124Leu)
|
rs750893887
|
|
NM_007186.6(CEP250):c.3710C>T (p.Ser1237Phe)
|
|
|
NM_007186.6(CEP250):c.3712G>A (p.Ala1238Thr)
|
rs375032151
|
|
NM_007186.6(CEP250):c.3713C>T (p.Ala1238Val)
|
rs6088868
|
|
NM_007186.6(CEP250):c.3718G>A (p.Ala1240Thr)
|
|
|
NM_007186.6(CEP250):c.3730G>C (p.Ala1244Pro)
|
|
|
NM_007186.6(CEP250):c.3733C>T (p.Leu1245Phe)
|
rs2063916855
|
|
NM_007186.6(CEP250):c.3746A>G (p.His1249Arg)
|
rs1184853425
|
|
NM_007186.6(CEP250):c.3747T>C (p.His1249=)
|
|
|
NM_007186.6(CEP250):c.3753C>G (p.Asp1251Glu)
|
rs1159154873
|
|
NM_007186.6(CEP250):c.3773_3777del (p.Thr1258fs)
|
|
|
NM_007186.6(CEP250):c.3774C>G (p.Thr1258=)
|
|
|
NM_007186.6(CEP250):c.3774C>T (p.Thr1258=)
|
|
|
NM_007186.6(CEP250):c.3778-13C>T
|
|
|
NM_007186.6(CEP250):c.3778-19C>T
|
|
|
NM_007186.6(CEP250):c.3778-7T>C
|
|
|
NM_007186.6(CEP250):c.3784C>T (p.Leu1262=)
|
|
|
NM_007186.6(CEP250):c.3787A>C (p.Arg1263=)
|
|
|
NM_007186.6(CEP250):c.3849C>T (p.Val1283=)
|
|
|
NM_007186.6(CEP250):c.3858G>T (p.Glu1286Asp)
|
rs2147127645
|
|
NM_007186.6(CEP250):c.385G>A (p.Val129Met)
|
|
|
NM_007186.6(CEP250):c.387G>A (p.Val129=)
|
|
|
NM_007186.6(CEP250):c.3880C>T (p.Leu1294Phe)
|
|
|
NM_007186.6(CEP250):c.3885C>T (p.Ser1295=)
|
rs1217813282
|
|
NM_007186.6(CEP250):c.3898+19G>T
|
|
|
NM_007186.6(CEP250):c.3898+2T>C
|
|
|
NM_007186.6(CEP250):c.3898+9C>T
|
rs1036046896
|
|
NM_007186.6(CEP250):c.3899-14CT[4]
|
rs145805757
|
|
NM_007186.6(CEP250):c.3899-15C>G
|
rs2147141607
|
|
NM_007186.6(CEP250):c.3899-19C>T
|
|
|
NM_007186.6(CEP250):c.3905C>T (p.Ser1302Phe)
|
|
|
NM_007186.6(CEP250):c.3906= (p.Ser1302=)
|
|
|
NM_007186.6(CEP250):c.3912G>A (p.Trp1304Ter)
|
|
|
NM_007186.6(CEP250):c.3916G>A (p.Gly1306Arg)
|
|
|
NM_007186.6(CEP250):c.3917G>A (p.Gly1306Glu)
|
rs2064014614
|
|
NM_007186.6(CEP250):c.3931C>T (p.Leu1311=)
|
rs765203693
|
|
NM_007186.6(CEP250):c.3940G>C (p.Glu1314Gln)
|
rs2147142358
|
|
NM_007186.6(CEP250):c.3944T>A (p.Leu1315Gln)
|
|
|
NM_007186.6(CEP250):c.3944T>G (p.Leu1315Arg)
|
rs377363665
|
|
NM_007186.6(CEP250):c.3948G>A (p.Met1316Ile)
|
|
|
NM_007186.6(CEP250):c.3952C>T (p.Leu1318=)
|
rs2147142526
|
|
NM_007186.6(CEP250):c.3965T>C (p.Met1322Thr)
|
rs1048988389
|
|
NM_007186.6(CEP250):c.3966G>A (p.Met1322Ile)
|
|
|
NM_007186.6(CEP250):c.3985C>T (p.Leu1329=)
|
rs2147143146
|
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NM_007186.6(CEP250):c.3987G>C (p.Leu1329=)
|
|
|
NM_007186.6(CEP250):c.4004A>G (p.Gln1335Arg)
|
rs1402828809
|
|
NM_007186.6(CEP250):c.4017C>G (p.Ala1339=)
|
|
|
NM_007186.6(CEP250):c.4020+14G>A
|
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|
NM_007186.6(CEP250):c.4020+9G>A
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|
NM_007186.6(CEP250):c.4021-10T>C
|
|
|
NM_007186.6(CEP250):c.4021-11T>G
|
|
|
NM_007186.6(CEP250):c.4021-12C>G
|
rs2147146966
|
|
NM_007186.6(CEP250):c.4021-13T>C
|
rs1340368367
|
|
NM_007186.6(CEP250):c.4021-17T>A
|
|
|
NM_007186.6(CEP250):c.4021-6T>G
|
|
|
NM_007186.6(CEP250):c.4021-9G>A
|
|
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NM_007186.6(CEP250):c.4021-9_4021-5del
|
rs568360865
|
|
NM_007186.6(CEP250):c.4024G>A (p.Glu1342Lys)
|
rs2064032915
|
|
NM_007186.6(CEP250):c.4027C>T (p.Arg1343Ter)
|
rs774612231
|
|
NM_007186.6(CEP250):c.402T>C (p.Leu134=)
|
|
|
NM_007186.6(CEP250):c.4043C>A (p.Ala1348Glu)
|
rs1464043042
|
|
NM_007186.6(CEP250):c.4056C>A (p.Asn1352Lys)
|
rs1020843458
|
|
NM_007186.6(CEP250):c.4056C>T (p.Asn1352=)
|
|
|
NM_007186.6(CEP250):c.405G>A (p.Arg135=)
|
rs2146708003
|
|
NM_007186.6(CEP250):c.4062A>T (p.Thr1354=)
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|
|
NM_007186.6(CEP250):c.4078C>G (p.Leu1360Val)
|
|
|
NM_007186.6(CEP250):c.4080G>A (p.Leu1360=)
|
|
|
NM_007186.6(CEP250):c.4087G>A (p.Ala1363Thr)
|
|
|
NM_007186.6(CEP250):c.4092C>A (p.Val1364=)
|
rs149222052
|
|
NM_007186.6(CEP250):c.4092C>T (p.Val1364=)
|
rs149222052
|
|
NM_007186.6(CEP250):c.4093G>A (p.Val1365Ile)
|
rs780905570
|
|
NM_007186.6(CEP250):c.4100C>T (p.Ala1367Val)
|
rs1382731258
|
|
NM_007186.6(CEP250):c.4113A>T (p.Ala1371=)
|
|
|
NM_007186.6(CEP250):c.4120G>A (p.Ala1374Thr)
|
|
|
NM_007186.6(CEP250):c.4140C>T (p.Asp1380=)
|
|
|
NM_007186.6(CEP250):c.4153C>T (p.Arg1385Cys)
|
|
|
NM_007186.6(CEP250):c.4174A>G (p.Asn1392Asp)
|
|
|
NM_007186.6(CEP250):c.4180G>C (p.Glu1394Gln)
|
|
|
NM_007186.6(CEP250):c.4192G>A (p.Glu1398Lys)
|
rs1462991376
|
|
NM_007186.6(CEP250):c.4193A>G (p.Glu1398Gly)
|
|
|
NM_007186.6(CEP250):c.4196G>C (p.Arg1399Pro)
|
rs772173920
|
|
NM_007186.6(CEP250):c.4202G>C (p.Arg1401Thr)
|
rs2147149764
|
|
NM_007186.6(CEP250):c.4205C>T (p.Ala1402Val)
|
rs2147149811
|
|
NM_007186.6(CEP250):c.4208A>C (p.Gln1403Pro)
|
|
|
NM_007186.6(CEP250):c.4228G>A (p.Glu1410Lys)
|
|
|
NM_007186.6(CEP250):c.4251G>A (p.Lys1417=)
|
|
|
NM_007186.6(CEP250):c.4253C>G (p.Ala1418Gly)
|
|
|
NM_007186.6(CEP250):c.4253C>T (p.Ala1418Val)
|
|
|
NM_007186.6(CEP250):c.4259A>T (p.Gln1420Leu)
|
rs2064042982
|
|
NM_007186.6(CEP250):c.4272_4273delinsT (p.Leu1425fs)
|
rs2064043746
|
|
NM_007186.6(CEP250):c.4291G>C (p.Ala1431Pro)
|
|
|
NM_007186.6(CEP250):c.4298G>C (p.Arg1433Thr)
|
rs907049229
|
|
NM_007186.6(CEP250):c.4311G>A (p.Val1437=)
|
|
|
NM_007186.6(CEP250):c.4321C>G (p.Arg1441Gly)
|
rs533821058
|
|
NM_007186.6(CEP250):c.4325G>C (p.Gly1442Ala)
|
|
|
NM_007186.6(CEP250):c.4346A>G (p.Lys1449Arg)
|
rs531936866
|
|
NM_007186.6(CEP250):c.434G>A (p.Trp145Ter)
|
|
|
NM_007186.6(CEP250):c.4353G>A (p.Arg1451=)
|
rs1216657994
|
|
NM_007186.6(CEP250):c.4365G>A (p.Lys1455=)
|
|
|
NM_007186.6(CEP250):c.4388_4389del (p.Leu1463fs)
|
rs2064048389
|
|
NM_007186.6(CEP250):c.439del (p.Arg147fs)
|
|
|
NM_007186.6(CEP250):c.4413G>A (p.Glu1471=)
|
rs1247320008
|
|
NM_007186.6(CEP250):c.4420C>A (p.Leu1474Met)
|
rs1057169190
|
|
NM_007186.6(CEP250):c.4437T>A (p.Ile1479=)
|
rs2147152254
|
|
NM_007186.6(CEP250):c.4447del (p.Glu1483fs)
|
|
|
NM_007186.6(CEP250):c.4449G>A (p.Glu1483=)
|
|
|
NM_007186.6(CEP250):c.4460C>G (p.Ser1487Cys)
|
rs1162080589
|
|
NM_007186.6(CEP250):c.4475T>G (p.Leu1492Arg)
|
|
|
NM_007186.6(CEP250):c.4476G>A (p.Leu1492=)
|
|
|
NM_007186.6(CEP250):c.447G>A (p.Arg149=)
|
rs2146708499
|
|
NM_007186.6(CEP250):c.4486G>A (p.Val1496Ile)
|
|
|
NM_007186.6(CEP250):c.4486G>T (p.Val1496Phe)
|
|
|
NM_007186.6(CEP250):c.4488C>A (p.Val1496=)
|
rs755041741
|
|
NM_007186.6(CEP250):c.4489del (p.Gln1497fs)
|
|
|
NM_007186.6(CEP250):c.4495C>T (p.Arg1499Ter)
|
|
|
NM_007186.6(CEP250):c.4497A>G (p.Arg1499=)
|
rs930625705
|
|
NM_007186.6(CEP250):c.4500G>A (p.Glu1500=)
|
|
|
NM_007186.6(CEP250):c.4514_4515del (p.Val1505fs)
|
|
|
NM_007186.6(CEP250):c.4522G>C (p.Glu1508Gln)
|
rs1270550943
|
|
NM_007186.6(CEP250):c.4539C>T (p.Leu1513=)
|
|
|
NM_007186.6(CEP250):c.4545G>C (p.Lys1515Asn)
|
|
|
NM_007186.6(CEP250):c.4547A>T (p.Asp1516Val)
|
rs1568832361
|
|
NM_007186.6(CEP250):c.454C>T (p.Leu152=)
|
|
|
NM_007186.6(CEP250):c.4550G>A (p.Arg1517Gln)
|
|
|
NM_007186.6(CEP250):c.4577A>T (p.His1526Leu)
|
rs2147154151
|
|
NM_007186.6(CEP250):c.4587A>C (p.Leu1529=)
|
rs2147154242
|
|
NM_007186.6(CEP250):c.4602A>G (p.Lys1534=)
|
|
|
NM_007186.6(CEP250):c.4639G>A (p.Asp1547Asn)
|
rs1470874110
|
|
NM_007186.6(CEP250):c.4656G>A (p.Leu1552=)
|
rs2147154961
|
|
NM_007186.6(CEP250):c.4672C>T (p.Leu1558=)
|
rs757548288
|
|
NM_007186.6(CEP250):c.467A>G (p.Glu156Gly)
|
|
|
NM_007186.6(CEP250):c.4685T>C (p.Leu1562Pro)
|
rs2147155251
|
|
NM_007186.6(CEP250):c.468G>A (p.Glu156=)
|
|
|
NM_007186.6(CEP250):c.4697A>G (p.His1566Arg)
|
rs371083759
|
|
NM_007186.6(CEP250):c.4700A>T (p.His1567Leu)
|
|
|
NM_007186.6(CEP250):c.4716G>A (p.Gln1572=)
|
|
|
NM_007186.6(CEP250):c.4723C>T (p.Leu1575=)
|
|
|
NM_007186.6(CEP250):c.4725G>C (p.Leu1575=)
|
rs2147155615
|
|
NM_007186.6(CEP250):c.4762G>C (p.Val1588Leu)
|
rs144589737
|
|
NM_007186.6(CEP250):c.4783C>T (p.Leu1595=)
|
rs2064066617
|
|
NM_007186.6(CEP250):c.4815G>A (p.Gln1605=)
|
|
|
NM_007186.6(CEP250):c.4816G>A (p.Ala1606Thr)
|
rs2147156541
|
|
NM_007186.6(CEP250):c.4834C>T (p.His1612Tyr)
|
|
|
NM_007186.6(CEP250):c.4850A>T (p.His1617Leu)
|
rs1042185077
|
|
NM_007186.6(CEP250):c.4858G>A (p.Val1620Ile)
|
|
|
NM_007186.6(CEP250):c.4872G>C (p.Glu1624Asp)
|
|
|
NM_007186.6(CEP250):c.4876C>T (p.Gln1626Ter)
|
|
|
NM_007186.6(CEP250):c.4880A>G (p.Glu1627Gly)
|
rs775392138
|
|
NM_007186.6(CEP250):c.4893G>A (p.Glu1631=)
|
rs2147157407
|
|
NM_007186.6(CEP250):c.4895T>C (p.Val1632Ala)
|
rs370432289
|
|
NM_007186.6(CEP250):c.4895T>G (p.Val1632Gly)
|
rs370432289
|
|
NM_007186.6(CEP250):c.4895_4897dup (p.Val1632_Lys1633insMet)
|
rs1427535451
|
|
NM_007186.6(CEP250):c.4899G>A (p.Lys1633=)
|
|
|
NM_007186.6(CEP250):c.4907G>A (p.Arg1636Gln)
|
|
|
NM_007186.6(CEP250):c.492+11C>T
|
|
|
NM_007186.6(CEP250):c.492+7A>C
|
|
|
NM_007186.6(CEP250):c.492+7A>G
|
|
|
NM_007186.6(CEP250):c.493-10G>A
|
|
|
NM_007186.6(CEP250):c.493-2A>G
|
rs1276900541
|
|
NM_007186.6(CEP250):c.493-62T>C
|
rs2296402
|
|
NM_007186.6(CEP250):c.4941G>C (p.Glu1647Asp)
|
|
|
NM_007186.6(CEP250):c.4944T>G (p.His1648Gln)
|
|
|
NM_007186.6(CEP250):c.4948A>C (p.Thr1650Pro)
|
|
|
NM_007186.6(CEP250):c.4952A>G (p.Gln1651Arg)
|
rs2147158137
|
|
NM_007186.6(CEP250):c.4959C>G (p.Leu1653=)
|
rs1198658920
|
|
NM_007186.6(CEP250):c.4978C>A (p.Leu1660Met)
|
rs551222580
|
|
NM_007186.6(CEP250):c.4981A>G (p.Met1661Val)
|
|
|
NM_007186.6(CEP250):c.4990_4992del (p.Lys1664del)
|
rs1451798723
|
|
NM_007186.6(CEP250):c.4993G>A (p.Glu1665Lys)
|
rs2064074772
|
|
NM_007186.6(CEP250):c.5010C>T (p.Leu1670=)
|
rs200762282
|
|
NM_007186.6(CEP250):c.5014G>C (p.Asp1672His)
|
|
|
NM_007186.6(CEP250):c.5034C>T (p.Thr1678=)
|
|
|
NM_007186.6(CEP250):c.504C>T (p.Gly168=)
|
|
|
NM_007186.6(CEP250):c.5050del (p.Asp1684fs)
|
rs2064077764
|
|
NM_007186.6(CEP250):c.5064C>T (p.Ile1688=)
|
|
|
NM_007186.6(CEP250):c.5073C>A (p.Ser1691=)
|
rs369241635
|
|
NM_007186.6(CEP250):c.5082G>A (p.Glu1694=)
|
rs1193568340
|
|
NM_007186.6(CEP250):c.5090G>A (p.Arg1697Gln)
|
rs142095721
|
|
NM_007186.6(CEP250):c.5090G>C (p.Arg1697Pro)
|
rs142095721
|
|
NM_007186.6(CEP250):c.5091G>A (p.Arg1697=)
|
|
|
NM_007186.6(CEP250):c.5092G>A (p.Glu1698Lys)
|
rs2064079583
|
|
NM_007186.6(CEP250):c.5105dup (p.Arg1703fs)
|
|
|
NM_007186.6(CEP250):c.5107A>T (p.Arg1703Trp)
|
rs1293253583
|
|
NM_007186.6(CEP250):c.5137G>A (p.Gly1713Arg)
|
|
|
NM_007186.6(CEP250):c.513A>G (p.Lys171=)
|
|
|
NM_007186.6(CEP250):c.5142G>A (p.Lys1714=)
|
|
|
NM_007186.6(CEP250):c.5145C>G (p.Gly1715=)
|
|
|
NM_007186.6(CEP250):c.5152A>G (p.Lys1718Glu)
|
rs2064082273
|
|
NM_007186.6(CEP250):c.5156C>A (p.Ala1719Glu)
|
rs2147160852
|
|
NM_007186.6(CEP250):c.5163C>T (p.Arg1721=)
|
|
|
NM_007186.6(CEP250):c.5168G>A (p.Ser1723Asn)
|
rs2064083389
|
|
NM_007186.6(CEP250):c.5172A>G (p.Leu1724=)
|
|
|
NM_007186.6(CEP250):c.51G>C (p.Gln17His)
|
|
|
NM_007186.6(CEP250):c.5203_5205del (p.Glu1735del)
|
rs781105474
|
|
NM_007186.6(CEP250):c.5206_5208del (p.Lys1736del)
|
|
|
NM_007186.6(CEP250):c.5238T>C (p.His1746=)
|
|
|
NM_007186.6(CEP250):c.5238T>G (p.His1746Gln)
|
rs967779006
|
|
NM_007186.6(CEP250):c.5248G>A (p.Glu1750Lys)
|
rs377467825
|
|
NM_007186.6(CEP250):c.5256A>G (p.Lys1752=)
|
rs1325527895
|
|
NM_007186.6(CEP250):c.5265G>C (p.Leu1755=)
|
|
|
NM_007186.6(CEP250):c.526C>T (p.Arg176Cys)
|
|
|
NM_007186.6(CEP250):c.5279A>T (p.Gln1760Leu)
|
rs757335817
|
|
NM_007186.6(CEP250):c.5299G>A (p.Gly1767Ser)
|
rs2147162790
|
|
NM_007186.6(CEP250):c.5307C>T (p.Thr1769=)
|
rs2147162940
|
|
NM_007186.6(CEP250):c.5312T>G (p.Leu1771Arg)
|
|
|
NM_007186.6(CEP250):c.5313C>T (p.Leu1771=)
|
|
|
NM_007186.6(CEP250):c.5314C>T (p.Leu1772Phe)
|
|
|
NM_007186.6(CEP250):c.5327G>A (p.Arg1776Gln)
|
|
|
NM_007186.6(CEP250):c.5347C>G (p.Leu1783Val)
|
rs2064092223
|
|
NM_007186.6(CEP250):c.5349G>A (p.Leu1783=)
|
rs373516283
|
|
NM_007186.6(CEP250):c.536G>T (p.Ser179Ile)
|
|
|
NM_007186.6(CEP250):c.5370C>G (p.Ala1790=)
|
|
|
NM_007186.6(CEP250):c.5370del (p.Arg1791fs)
|
|
|
NM_007186.6(CEP250):c.5375A>G (p.Glu1792Gly)
|
|
|
NM_007186.6(CEP250):c.5382G>A (p.Gly1794=)
|
|
|
NM_007186.6(CEP250):c.5383dup (p.Glu1795fs)
|
rs2064092893
|
|
NM_007186.6(CEP250):c.539T>C (p.Leu180Pro)
|
rs1434033246
|
|
NM_007186.6(CEP250):c.5401C>T (p.Leu1801Phe)
|
rs2147163818
|
|
NM_007186.6(CEP250):c.5413C>G (p.Leu1805Val)
|
|
|
NM_007186.6(CEP250):c.5415G>A (p.Leu1805=)
|
|
|
NM_007186.6(CEP250):c.5417A>G (p.Asp1806Gly)
|
|
|
NM_007186.6(CEP250):c.5431G>A (p.Ala1811Thr)
|
|
|
NM_007186.6(CEP250):c.544C>A (p.Arg182=)
|
|
|
NM_007186.6(CEP250):c.5454A>G (p.Glu1818=)
|
rs2147164415
|
|
NM_007186.6(CEP250):c.5477A>G (p.Gln1826Arg)
|
|
|
NM_007186.6(CEP250):c.5481G>A (p.Gln1827=)
|
|
|
NM_007186.6(CEP250):c.548A>T (p.Glu183Val)
|
|
|
NM_007186.6(CEP250):c.5500del (p.Glu1834fs)
|
rs2147164893
|
|
NM_007186.6(CEP250):c.5507T>C (p.Val1836Ala)
|
rs1601301034
|
|
NM_007186.6(CEP250):c.5513A>G (p.Glu1838Gly)
|
|
|
NM_007186.6(CEP250):c.5524G>A (p.Ala1842Thr)
|
|
|
NM_007186.6(CEP250):c.5529C>T (p.Leu1843=)
|
rs2147165269
|
|
NM_007186.6(CEP250):c.5531A>G (p.Gln1844Arg)
|
|
|
NM_007186.6(CEP250):c.5544G>A (p.Glu1848=)
|
|
|
NM_007186.6(CEP250):c.5548G>A (p.Ala1850Thr)
|
rs2064098499
|
|
NM_007186.6(CEP250):c.5569C>T (p.Arg1857Cys)
|
|
|
NM_007186.6(CEP250):c.5596del (p.Glu1866fs)
|
|
|
NM_007186.6(CEP250):c.5606G>A (p.Arg1869Gln)
|
rs375122917
|
|
NM_007186.6(CEP250):c.5606G>T (p.Arg1869Leu)
|
rs375122917
|
|
NM_007186.6(CEP250):c.5625G>A (p.Leu1875=)
|
|
|
NM_007186.6(CEP250):c.5629G>A (p.Val1877Met)
|
rs2147166718
|
|
NM_007186.6(CEP250):c.5659G>C (p.Glu1887Gln)
|
rs147660483
|
|
NM_007186.6(CEP250):c.565C>T (p.Arg189Cys)
|
|
|
NM_007186.6(CEP250):c.5715C>T (p.Ala1905=)
|
rs2147167911
|
|
NM_007186.6(CEP250):c.5720A>G (p.Gln1907Arg)
|
|
|
NM_007186.6(CEP250):c.5727G>C (p.Gln1909His)
|
rs1316003631
|
|
NM_007186.6(CEP250):c.5770C>A (p.Leu1924Met)
|
rs376093093
|
|
NM_007186.6(CEP250):c.5771T>C (p.Leu1924Pro)
|
|
|
NM_007186.6(CEP250):c.5793C>A (p.Ala1931=)
|
|
|
NM_007186.6(CEP250):c.5798C>A (p.Ala1933Glu)
|
rs116637219
|
|
NM_007186.6(CEP250):c.5798C>T (p.Ala1933Val)
|
rs116637219
|
|
NM_007186.6(CEP250):c.5799A>C (p.Ala1933=)
|
|
|
NM_007186.6(CEP250):c.5813G>T (p.Arg1938Leu)
|
rs767687865
|
|
NM_007186.6(CEP250):c.5835G>A (p.Leu1945=)
|
|
|
NM_007186.6(CEP250):c.5849A>T (p.Gln1950Leu)
|
|
|
NM_007186.6(CEP250):c.5865G>A (p.Gln1955=)
|
|
|
NM_007186.6(CEP250):c.5877C>T (p.Ala1959=)
|
|
|
NM_007186.6(CEP250):c.5882C>G (p.Ala1961Gly)
|
rs1036530132
|
|
NM_007186.6(CEP250):c.5886G>A (p.Arg1962=)
|
|
|
NM_007186.6(CEP250):c.5896C>T (p.Leu1966=)
|
|
|
NM_007186.6(CEP250):c.58C>T (p.Leu20=)
|
rs1391330529
|
|
NM_007186.6(CEP250):c.5913C>G (p.Gly1971=)
|
|
|
NM_007186.6(CEP250):c.5918C>T (p.Ala1973Val)
|
|
|
NM_007186.6(CEP250):c.5919T>A (p.Ala1973=)
|
|
|
NM_007186.6(CEP250):c.5921A>T (p.His1974Leu)
|
rs374754443
|
|
NM_007186.6(CEP250):c.5952C>T (p.Leu1984=)
|
|
|
NM_007186.6(CEP250):c.5958G>A (p.Glu1986=)
|
rs1466836464
|
|
NM_007186.6(CEP250):c.5969T>A (p.Leu1990Ter)
|
|
|
NM_007186.6(CEP250):c.596A>G (p.Asp199Gly)
|
|
|
NM_007186.6(CEP250):c.5975G>T (p.Arg1992Leu)
|
rs760800311
|
|
NM_007186.6(CEP250):c.5979T>C (p.Ser1993=)
|
|
|
NM_007186.6(CEP250):c.597C>G (p.Asp199Glu)
|
rs769497701
|
|
NM_007186.6(CEP250):c.599+10G>A
|
|
|
NM_007186.6(CEP250):c.599+14G>T
|
rs2033463467
|
|
NM_007186.6(CEP250):c.599+18_599+20del
|
rs1568760924
|
|
NM_007186.6(CEP250):c.599+2T>C
|
|
|
NM_007186.6(CEP250):c.599+3C>A
|
rs2146717827
|
|
NM_007186.6(CEP250):c.599+5G>A
|
rs1162584600
|
|
NM_007186.6(CEP250):c.5997_5999del (p.Thr2000del)
|
|
|
NM_007186.6(CEP250):c.600-16C>T
|
|
|
NM_007186.6(CEP250):c.600-3C>T
|
rs1215447362
|
|
NM_007186.6(CEP250):c.600-8G>A
|
|
|
NM_007186.6(CEP250):c.6009C>T (p.Ala2003=)
|
|
|
NM_007186.6(CEP250):c.6011C>T (p.Ser2004Phe)
|
rs1033436914
|
|
NM_007186.6(CEP250):c.601G>T (p.Asp201Tyr)
|
|
|
NM_007186.6(CEP250):c.6028G>T (p.Ala2010Ser)
|
rs1369573210
|
|
NM_007186.6(CEP250):c.6041A>C (p.Gln2014Pro)
|
|
|
NM_007186.6(CEP250):c.6060G>T (p.Arg2020Ser)
|
|
|
NM_007186.6(CEP250):c.6066A>G (p.Gln2022=)
|
rs746967269
|
|
NM_007186.6(CEP250):c.6073G>A (p.Glu2025Lys)
|
rs1422976842
|
|
NM_007186.6(CEP250):c.6078C>T (p.Ile2026=)
|
|
|
NM_007186.6(CEP250):c.6084C>G (p.Asp2028Glu)
|
rs2147173106
|
|
NM_007186.6(CEP250):c.6094C>T (p.Arg2032Ter)
|
|
|
NM_007186.6(CEP250):c.6095G>A (p.Arg2032Gln)
|
|
|
NM_007186.6(CEP250):c.6103G>A (p.Glu2035Lys)
|
rs1321762009
|
|
NM_007186.6(CEP250):c.6111G>A (p.Val2037=)
|
|
|
NM_007186.6(CEP250):c.6118C>G (p.Leu2040Val)
|
|
|
NM_007186.6(CEP250):c.6128C>T (p.Ala2043Val)
|
|
|
NM_007186.6(CEP250):c.6130C>T (p.Leu2044Phe)
|
rs2064125410
|
|
NM_007186.6(CEP250):c.6146A>G (p.Glu2049Gly)
|
rs2064125657
|
|
NM_007186.6(CEP250):c.6160C>T (p.Gln2054Ter)
|
rs2147174157
|
|
NM_007186.6(CEP250):c.6171G>C (p.Arg2057=)
|
rs2147174381
|
|
NM_007186.6(CEP250):c.6173A>T (p.Glu2058Val)
|
rs2147174402
|
|
NM_007186.6(CEP250):c.6184G>C (p.Glu2062Gln)
|
|
|
NM_007186.6(CEP250):c.6186G>A (p.Glu2062=)
|
|
|
NM_007186.6(CEP250):c.6189G>A (p.Lys2063=)
|
rs760033053
|
|
NM_007186.6(CEP250):c.6189G>T (p.Lys2063Asn)
|
rs760033053
|
|
NM_007186.6(CEP250):c.6193C>T (p.Leu2065=)
|
|
|
NM_007186.6(CEP250):c.6256G>A (p.Glu2086Lys)
|
rs1440375481
|
|
NM_007186.6(CEP250):c.6261G>A (p.Glu2087=)
|
|
|
NM_007186.6(CEP250):c.6267A>C (p.Ile2089=)
|
rs766147776
|
|
NM_007186.6(CEP250):c.6285T>G (p.Ser2095Arg)
|
rs1221230535
|
|
NM_007186.6(CEP250):c.628G>C (p.Val210Leu)
|
|
|
NM_007186.6(CEP250):c.6290G>A (p.Arg2097Lys)
|
rs748146737
|
|
NM_007186.6(CEP250):c.6294G>A (p.Glu2098=)
|
rs2147175819
|
|
NM_007186.6(CEP250):c.6307_6308del (p.Leu2103fs)
|
|
|
NM_007186.6(CEP250):c.6354A>G (p.Gln2118=)
|
|
|
NM_007186.6(CEP250):c.6376C>A (p.Pro2126Thr)
|
|
|
NM_007186.6(CEP250):c.6394T>A (p.Ser2132Thr)
|
|
|
NM_007186.6(CEP250):c.6397C>G (p.Pro2133Ala)
|
|
|
NM_007186.6(CEP250):c.6398C>T (p.Pro2133Leu)
|
rs1452737526
|
|
NM_007186.6(CEP250):c.6406G>T (p.Glu2136Ter)
|
|
|
NM_007186.6(CEP250):c.6425A>G (p.Asp2142Gly)
|
|
|
NM_007186.6(CEP250):c.6435G>T (p.Glu2145Asp)
|
rs904501712
|
|
NM_007186.6(CEP250):c.6436C>T (p.Pro2146Ser)
|
|
|
NM_007186.6(CEP250):c.6437C>G (p.Pro2146Arg)
|
rs137874746
|
|
NM_007186.6(CEP250):c.6444G>T (p.Leu2148=)
|
|
|
NM_007186.6(CEP250):c.6446A>G (p.Gln2149Arg)
|
rs2064137882
|
|
NM_007186.6(CEP250):c.6451_6462del (p.Glu2151_Arg2154del)
|
rs779829454
|
|
NM_007186.6(CEP250):c.6460C>T (p.Arg2154Trp)
|
rs375115331
|
|
NM_007186.6(CEP250):c.6479G>C (p.Arg2160Thr)
|
|
|
NM_007186.6(CEP250):c.6487_6488del (p.Glu2163fs)
|
rs2147179056
|
|
NM_007186.6(CEP250):c.6510G>A (p.Arg2170=)
|
|
|
NM_007186.6(CEP250):c.6525C>T (p.Asp2175=)
|
|
|
NM_007186.6(CEP250):c.6532C>G (p.Leu2178Val)
|
rs369913865
|
|
NM_007186.6(CEP250):c.6542C>G (p.Ala2181Gly)
|
rs139681236
|
|
NM_007186.6(CEP250):c.6542C>T (p.Ala2181Val)
|
rs139681236
|
|
NM_007186.6(CEP250):c.6556A>C (p.Ser2186Arg)
|
rs753684828
|
|
NM_007186.6(CEP250):c.6580G>A (p.Ala2194Thr)
|
rs750513127
|
|
NM_007186.6(CEP250):c.6584T>C (p.Met2195Thr)
|
|
|
NM_007186.6(CEP250):c.6585G>A (p.Met2195Ile)
|
rs2147180433
|
|
NM_007186.6(CEP250):c.6592C>T (p.Gln2198Ter)
|
|
|
NM_007186.6(CEP250):c.659G>C (p.Cys220Ser)
|
|
|
NM_007186.6(CEP250):c.6625C>T (p.Gln2209Ter)
|
|
|
NM_007186.6(CEP250):c.6629G>A (p.Arg2210Lys)
|
|
|
NM_007186.6(CEP250):c.6636+13A>G
|
|
|
NM_007186.6(CEP250):c.6636+14T>C
|
|
|
NM_007186.6(CEP250):c.6636+15G>A
|
|
|
NM_007186.6(CEP250):c.6636+20G>A
|
rs2064146742
|
|
NM_007186.6(CEP250):c.6637-11C>T
|
|
|
NM_007186.6(CEP250):c.6637-13C>T
|
rs2147204010
|
|
NM_007186.6(CEP250):c.6637-9G>T
|
|
|
NM_007186.6(CEP250):c.6642A>G (p.Glu2214=)
|
|
|
NM_007186.6(CEP250):c.6659G>A (p.Arg2220Gln)
|
|
|
NM_007186.6(CEP250):c.665G>A (p.Arg222His)
|
rs78174774
|
|
NM_007186.6(CEP250):c.665G>T (p.Arg222Leu)
|
rs78174774
|
|
NM_007186.6(CEP250):c.666C>T (p.Arg222=)
|
rs2146722313
|
|
NM_007186.6(CEP250):c.6673G>C (p.Glu2225Gln)
|
rs955566479
|
|
NM_007186.6(CEP250):c.6677G>A (p.Arg2226Gln)
|
|
|
NM_007186.6(CEP250):c.6693T>G (p.Gly2231=)
|
rs1601318835
|
|
NM_007186.6(CEP250):c.6703A>C (p.Thr2235Pro)
|
rs769634388
|
|
NM_007186.6(CEP250):c.6709G>A (p.Glu2237Lys)
|
|
|
NM_007186.6(CEP250):c.6725G>T (p.Gly2242Val)
|
|
|
NM_007186.6(CEP250):c.6726G>A (p.Gly2242=)
|
|
|
NM_007186.6(CEP250):c.6736G>T (p.Val2246Leu)
|
rs1314267186
|
|
NM_007186.6(CEP250):c.6750+18G>C
|
|
|
NM_007186.6(CEP250):c.6750+19G>C
|
|
|
NM_007186.6(CEP250):c.6751-48A>G
|
rs116453376
|
|
NM_007186.6(CEP250):c.6766G>A (p.Ala2256Thr)
|
rs1327426707
|
|
NM_007186.6(CEP250):c.6769G>A (p.Glu2257Lys)
|
|
|
NM_007186.6(CEP250):c.6787A>G (p.Met2263Val)
|
|
|
NM_007186.6(CEP250):c.6794A>G (p.Lys2265Arg)
|
|
|
NM_007186.6(CEP250):c.6798G>A (p.Gln2266=)
|
rs145765975
|
|
NM_007186.6(CEP250):c.6826C>T (p.Gln2276Ter)
|
rs2147208997
|
|
NM_007186.6(CEP250):c.6829C>T (p.Gln2277Ter)
|
|
|
NM_007186.6(CEP250):c.6865C>T (p.Leu2289=)
|
rs2147209482
|
|
NM_007186.6(CEP250):c.6890G>A (p.Arg2297Gln)
|
|
|
NM_007186.6(CEP250):c.689G>A (p.Arg230Gln)
|
|
|
NM_007186.6(CEP250):c.6905A>G (p.Gln2302Arg)
|
rs750911269
|
|
NM_007186.6(CEP250):c.6906+14T>G
|
rs1289008476
|
|
NM_007186.6(CEP250):c.6906+18C>T
|
|
|
NM_007186.6(CEP250):c.6906+8C>A
|
|
|
NM_007186.6(CEP250):c.6907-2A>G
|
|
|
NM_007186.6(CEP250):c.6907-9C>T
|
|
|
NM_007186.6(CEP250):c.6919C>A (p.Arg2307=)
|
rs915467191
|
|
NM_007186.6(CEP250):c.6920G>A (p.Arg2307Gln)
|
rs367904996
|
|
NM_007186.6(CEP250):c.6920G>T (p.Arg2307Leu)
|
|
|
NM_007186.6(CEP250):c.6947G>A (p.Arg2316His)
|
rs1395653456
|
|
NM_007186.6(CEP250):c.6949G>A (p.Ala2317Thr)
|
|
|
NM_007186.6(CEP250):c.6957G>A (p.Gln2319=)
|
rs201729351
|
|
NM_007186.6(CEP250):c.6962G>T (p.Gly2321Val)
|
|
|
NM_007186.6(CEP250):c.6986C>T (p.Thr2329Met)
|
|
|
NM_007186.6(CEP250):c.6987G>A (p.Thr2329=)
|
|
|
NM_007186.6(CEP250):c.699C>T (p.Asn233=)
|
|
|
NM_007186.6(CEP250):c.7008+17C>T
|
|
|
NM_007186.6(CEP250):c.7008+19G>C
|
rs2147218569
|
|
NM_007186.6(CEP250):c.7008+19dup
|
|
|
NM_007186.6(CEP250):c.7008+9A>G
|
|
|
NM_007186.6(CEP250):c.7009-16T>C
|
|
|
NM_007186.6(CEP250):c.7009-17C>T
|
rs2147226706
|
|
NM_007186.6(CEP250):c.7009-4T>G
|
|
|
NM_007186.6(CEP250):c.7027A>G (p.Asn2343Asp)
|
rs2064309799
|
|
NM_007186.6(CEP250):c.7033G>A (p.Asp2345Asn)
|
|
|
NM_007186.6(CEP250):c.7038C>T (p.Ala2346=)
|
|
|
NM_007186.6(CEP250):c.7043G>A (p.Cys2348Tyr)
|
rs2147227232
|
|
NM_007186.6(CEP250):c.7051G>A (p.Glu2351Lys)
|
|
|
NM_007186.6(CEP250):c.7064A>C (p.Glu2355Ala)
|
rs1455011426
|
|
NM_007186.6(CEP250):c.7065+11del
|
|
|
NM_007186.6(CEP250):c.7065+13T>A
|
|
|
NM_007186.6(CEP250):c.7065+4T>C
|
rs2064311388
|
|
NM_007186.6(CEP250):c.7066-17T>A
|
|
|
NM_007186.6(CEP250):c.7066-6C>T
|
rs2064352499
|
|
NM_007186.6(CEP250):c.7088T>G (p.Leu2363Arg)
|
rs2147239037
|
|
NM_007186.6(CEP250):c.7099C>T (p.Arg2367Trp)
|
|
|
NM_007186.6(CEP250):c.7102AAGCAG[3] (p.2368KQ[3])
|
rs2147239155
|
|
NM_007186.6(CEP250):c.7104G>A (p.Lys2368=)
|
rs2147239210
|
|
NM_007186.6(CEP250):c.7114G>C (p.Asp2372His)
|
|
|
NM_007186.6(CEP250):c.7124C>A (p.Thr2375Asn)
|
rs1475487869
|
|
NM_007186.6(CEP250):c.7126C>A (p.Arg2376Ser)
|
rs563013303
|
|
NM_007186.6(CEP250):c.7127G>A (p.Arg2376His)
|
rs374274791
|
|
NM_007186.6(CEP250):c.7139C>A (p.Thr2380Asn)
|
rs1314188429
|
|
NM_007186.6(CEP250):c.7157G>A (p.Gly2386Asp)
|
rs2147239969
|
|
NM_007186.6(CEP250):c.7161G>A (p.Leu2387=)
|
|
|
NM_007186.6(CEP250):c.7173C>G (p.Leu2391=)
|
rs549300192
|
|
NM_007186.6(CEP250):c.7182_7185del (p.Leu2396fs)
|
rs2147240323
|
|
NM_007186.6(CEP250):c.7206T>C (p.Pro2402=)
|
|
|
NM_007186.6(CEP250):c.7207G>C (p.Glu2403Gln)
|
rs2064359460
|
|
NM_007186.6(CEP250):c.7219del (p.Leu2407fs)
|
rs2147240925
|
|
NM_007186.6(CEP250):c.722G>A (p.Arg241Gln)
|
rs548805618
|
|
NM_007186.6(CEP250):c.7234C>A (p.Arg2412Ser)
|
rs369255727
|
|
NM_007186.6(CEP250):c.7234C>T (p.Arg2412Cys)
|
rs369255727
|
|
NM_007186.6(CEP250):c.7256C>A (p.Thr2419Asn)
|
rs753961048
|
|
NM_007186.6(CEP250):c.7274C>T (p.Pro2425Leu)
|
rs2147241556
|
|
NM_007186.6(CEP250):c.7275A>G (p.Pro2425=)
|
|
|
NM_007186.6(CEP250):c.7295C>T (p.Pro2432Leu)
|
|
|
NM_007186.6(CEP250):c.7296del (p.Ser2433fs)
|
|
|
NM_007186.6(CEP250):c.72G>T (p.Val24=)
|
|
|
NM_007186.6(CEP250):c.7305C>T (p.Ser2435=)
|
rs1167410872
|
|
NM_007186.6(CEP250):c.7318_*87del (p.Ala2440_Ter2443del)
|
rs2147242153
|
|
NM_007186.6(CEP250):c.7320C>T (p.Ala2440=)
|
rs2147242305
|
|
NM_007186.6(CEP250):c.7327del (p.Ter2443SerextTer?)
|
rs2147242379
|
|
NM_007186.6(CEP250):c.7328A>C (p.Ter2443Ser)
|
|
|
NM_007186.6(CEP250):c.738G>C (p.Leu246=)
|
|
|
NM_007186.6(CEP250):c.73C>T (p.Leu25=)
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NM_007186.6(CEP250):c.747A>G (p.Leu249=)
|
rs771729918
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NM_007186.6(CEP250):c.785A>G (p.Glu262Gly)
|
rs2146723861
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NM_007186.6(CEP250):c.795G>A (p.Gln265=)
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NM_007186.6(CEP250):c.823G>T (p.Asp275Tyr)
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rs754938655
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NM_007186.6(CEP250):c.825T>C (p.Asp275=)
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rs778905410
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NM_007186.6(CEP250):c.829G>T (p.Glu277Ter)
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NM_007186.6(CEP250):c.830A>G (p.Glu277Gly)
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rs2062916794
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NM_007186.6(CEP250):c.849C>T (p.Asp283=)
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NM_007186.6(CEP250):c.851+15G>A
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NM_007186.6(CEP250):c.852-3T>C
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rs2146751973
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NM_007186.6(CEP250):c.852G>T (p.Arg284=)
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rs748553150
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NM_007186.6(CEP250):c.871C>T (p.Leu291=)
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rs2146752316
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NM_007186.6(CEP250):c.882G>A (p.Gln294=)
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NM_007186.6(CEP250):c.884C>T (p.Ser295Phe)
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NM_007186.6(CEP250):c.896A>G (p.Asn299Ser)
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NM_007186.6(CEP250):c.898G>C (p.Glu300Gln)
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NM_007186.6(CEP250):c.90G>C (p.Gln30His)
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NM_007186.6(CEP250):c.913A>T (p.Met305Leu)
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NM_007186.6(CEP250):c.916A>C (p.Ile306Leu)
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NM_007186.6(CEP250):c.916A>G (p.Ile306Val)
|
rs756960945
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NM_007186.6(CEP250):c.918A>G (p.Ile306Met)
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|
|
NM_007186.6(CEP250):c.935_936inv (p.Thr312Met)
|
|
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NM_007186.6(CEP250):c.936A>C (p.Thr312=)
|
rs41290918
|
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NM_007186.6(CEP250):c.936A>G (p.Thr312=)
|
rs41290918
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NM_007186.6(CEP250):c.937G>C (p.Val313Leu)
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NM_007186.6(CEP250):c.948+6T>G
|
rs2062984834
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NM_007186.6(CEP250):c.948+7G>A
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|
|
NM_007186.6(CEP250):c.949-3C>T
|
rs1252417641
|
|
NM_007186.6(CEP250):c.94dup (p.Ala32fs)
|
rs2146671573
|
|
NM_007186.6(CEP250):c.956A>G (p.Asn319Ser)
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|
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NM_007186.6(CEP250):c.970A>G (p.Met324Val)
|
rs2063037391
|
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NM_007186.6(CEP250):c.977A>C (p.His326Pro)
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|
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NM_007186.6(CEP250):c.990TAG[1] (p.Ser331del)
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rs2063037830
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NM_007186.6(CEP250):c.99G>T (p.Glu33Asp)
|
rs1601114794
|
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