|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
|
NM_030578.4(B9D2):c.-5+107G>A
|
rs2241712
|
0.71256
|
|
NM_030578.4(B9D2):c.33A>G (p.Ile11Met)
|
rs2241714
|
0.71244
|
|
NC_000019.10:g.41354391A>G
|
rs1800469
|
0.69508
|
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
|
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)
|
rs7966867
|
0.54127
|
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
|
NM_024809.5(TCTN2):c.1099+19T>C
|
rs7137946
|
0.50815
|
|
NM_024809.5(TCTN2):c.891+7G>A
|
rs7313032
|
0.42667
|
|
NM_015272.5(RPGRIP1L):c.2959-32G>A
|
rs7203525
|
0.39281
|
|
NM_024809.5(TCTN2):c.1393+7C>T
|
rs7298440
|
0.36136
|
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
|
NM_001077418.3(TMEM231):c.-6G>C
|
rs3743602
|
0.21908
|
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
|
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)
|
rs4784320
|
0.10935
|
|
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
|
NM_001378615.1(CC2D2A):c.2003+19C>T
|
rs17476642
|
0.09677
|
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
|
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)
|
rs11548967
|
0.06374
|
|
NM_030578.4(B9D2):c.*18G>A
|
rs1800468
|
0.05927
|
|
NM_024809.5(TCTN2):c.873A>G (p.Ala291=)
|
rs73418153
|
0.05717
|
|
NM_024809.5(TCTN2):c.225C>T (p.Asn75=)
|
rs73416301
|
0.05714
|
|
NM_024809.5(TCTN2):c.83-4C>T
|
rs73416299
|
0.05712
|
|
NM_025114.4(CEP290):c.6357+20A>T
|
rs7971699
|
0.05562
|
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
|
NM_025114.4(CEP290):c.5709+18C>A
|
rs7973969
|
0.05367
|
|
NM_025114.4(CEP290):c.442-19T>A
|
rs113132803
|
0.05334
|
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
|
NM_001378615.1(CC2D2A):c.777C>T (p.His259=)
|
rs2286976
|
0.04284
|
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
|
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=)
|
rs16916221
|
0.04084
|
|
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
|
NM_001082538.3(TCTN1):c.473-10T>A
|
rs12307716
|
0.02637
|
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
|
NM_153704.6(TMEM67):c.1518+18T>C
|
rs73694953
|
0.01972
|
|
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=)
|
rs16940927
|
0.01924
|
|
NM_001077418.3(TMEM231):c.582+3A>G
|
rs114290622
|
0.01823
|
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
|
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys)
|
rs118096349
|
0.01517
|
|
NM_015681.6(B9D1):c.580T>C (p.Leu194=)
|
rs7212549
|
0.01478
|
|
NM_024809.5(TCTN2):c.1612+12C>T
|
rs117614122
|
0.01410
|
|
NM_015272.5(RPGRIP1L):c.2959-15T>C
|
rs11863101
|
0.01368
|
|
NM_030578.4(B9D2):c.215-16C>G
|
rs3087453
|
0.01363
|
|
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)
|
rs78196225
|
0.01307
|
|
NC_000016.10:g.75556260C>T
|
rs115739052
|
0.01305
|
|
NM_017777.4(MKS1):c.1273+11G>A
|
rs16942826
|
0.01295
|
|
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)
|
rs117195541
|
0.01237
|
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
|
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp)
|
rs73980038
|
0.01073
|
|
NM_024809.5(TCTN2):c.898C>T (p.Leu300=)
|
rs77804131
|
0.01030
|
|
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=)
|
rs112158562
|
0.01028
|
|
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)
|
rs79251326
|
0.00978
|
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
|
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)
|
rs62000428
|
0.00732
|
|
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)
|
rs75714509
|
0.00723
|
|
NM_001082538.3(TCTN1):c.220+12G>C
|
rs76843552
|
0.00719
|
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
|
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)
|
rs75220808
|
0.00678
|
|
NM_001378615.1(CC2D2A):c.541-20T>G
|
rs114335547
|
0.00669
|
|
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)
|
rs61734948
|
0.00656
|
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
|
NM_153704.6(TMEM67):c.506+18G>T
|
rs116705535
|
0.00585
|
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
|
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)
|
rs111315726
|
0.00476
|
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
|
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)
|
rs115967793
|
0.00439
|
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
|
NM_024809.5(TCTN2):c.1505+3G>C
|
rs111574617
|
0.00377
|
|
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)
|
rs144567556
|
0.00376
|
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
|
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val)
|
rs113301547
|
0.00373
|
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
|
NM_153704.6(TMEM67):c.507-19T>C
|
rs138589757
|
0.00344
|
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
|
NM_015681.6(B9D1):c.237C>G (p.Pro79=)
|
rs149051059
|
0.00295
|
|
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)
|
rs116445698
|
0.00278
|
|
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=)
|
rs113835820
|
0.00275
|
|
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr)
|
rs148773489
|
0.00266
|
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
|
NM_030578.4(B9D2):c.195C>T (p.Phe65=)
|
rs34088631
|
0.00261
|
|
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr)
|
rs190390987
|
0.00245
|
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
|
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)
|
rs149430216
|
0.00236
|
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
|
NM_024809.5(TCTN2):c.-2G>A
|
rs141768405
|
0.00224
|
|
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)
|
rs35765535
|
0.00213
|
|
NM_030578.4(B9D2):c.88+6C>T
|
rs112498529
|
0.00205
|
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
|
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln)
|
rs116469117
|
0.00196
|
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
|
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)
|
rs114568905
|
0.00194
|
|
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)
|
rs143947747
|
0.00194
|
|
NM_024809.5(TCTN2):c.1985-12A>G
|
rs78123598
|
0.00188
|
|
NM_024809.5(TCTN2):c.654C>T (p.Leu218=)
|
rs138897437
|
0.00188
|
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
|
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val)
|
rs182008317
|
0.00181
|
|
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu)
|
rs186119649
|
0.00179
|
|
NM_001077418.3(TMEM231):c.-40C>G
|
rs114889548
|
0.00177
|
|
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val)
|
rs201036290
|
0.00177
|
|
NM_001378615.1(CC2D2A):c.2487-11C>G
|
rs374783761
|
0.00168
|
|
NM_024809.5(TCTN2):c.360C>G (p.Leu120=)
|
rs142452647
|
0.00165
|
|
NM_017777.4(MKS1):c.12C>T (p.Thr4=)
|
rs372471169
|
0.00160
|
|
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)
|
rs190698163
|
0.00159
|
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
|
NM_030578.4(B9D2):c.183C>T (p.Ile61=)
|
rs140901774
|
0.00155
|
|
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)
|
rs201894544
|
0.00146
|
|
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)
|
rs139067427
|
0.00146
|
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
|
NM_153704.6(TMEM67):c.186T>C (p.Cys62=)
|
rs115660279
|
0.00145
|
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
|
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly)
|
rs146210288
|
0.00138
|
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
|
NM_001077418.3(TMEM231):c.583-20A>T
|
rs375984875
|
0.00128
|
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
|
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)
|
rs145374149
|
0.00124
|
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
|
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)
|
rs186264635
|
0.00120
|
|
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)
|
rs74957591
|
0.00118
|
|
NM_017777.4(MKS1):c.261+7C>T
|
rs200156751
|
0.00117
|
|
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)
|
rs370336923
|
0.00108
|
|
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)
|
rs372349042
|
0.00107
|
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
|
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)
|
rs201181950
|
0.00105
|
|
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser)
|
rs147684440
|
0.00104
|
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
|
NM_015272.5(RPGRIP1L):c.3701+19A>C
|
rs199926524
|
0.00099
|
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
|
NM_001077418.3(TMEM231):c.-15C>T
|
rs138060715
|
0.00092
|
|
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)
|
rs79524027
|
0.00092
|
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
|
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)
|
rs115924432
|
0.00089
|
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
|
NM_153704.6(TMEM67):c.714+18A>T
|
rs140881754
|
0.00086
|
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
|
NM_001378615.1(CC2D2A):c.1017+7G>A
|
rs137919504
|
0.00080
|
|
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)
|
rs375131519
|
0.00080
|
|
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)
|
rs371159780
|
0.00080
|
|
NM_001082538.3(TCTN1):c.341+11G>A
|
rs188296885
|
0.00079
|
|
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=)
|
rs375273015
|
0.00077
|
|
NM_015272.5(RPGRIP1L):c.3300C>T (p.Leu1100=)
|
rs190706759
|
0.00077
|
|
NM_025114.4(CEP290):c.6646-16T>C
|
rs367543543
|
0.00076
|
|
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)
|
rs145478892
|
0.00073
|
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
|
NM_017777.4(MKS1):c.749+13A>G
|
rs199550514
|
0.00072
|
|
NM_153704.6(TMEM67):c.2241+15A>G
|
rs201043898
|
0.00072
|
|
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)
|
rs199605221
|
0.00071
|
|
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu)
|
rs188817098
|
0.00071
|
|
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val)
|
rs34779331
|
0.00071
|
|
NM_015272.5(RPGRIP1L):c.3313G>A (p.Gly1105Arg)
|
rs528501990
|
0.00070
|
|
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg)
|
rs151318349
|
0.00070
|
|
NM_024809.5(TCTN2):c.888G>A (p.Pro296=)
|
rs116845100
|
0.00068
|
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
|
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)
|
rs369227219
|
0.00067
|
|
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)
|
rs117896500
|
0.00066
|
|
NM_017777.4(MKS1):c.1024+13C>G
|
rs374632643
|
0.00065
|
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
|
NM_025114.4(CEP290):c.3574-3C>G
|
rs781450470
|
0.00062
|
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
|
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln)
|
rs200707391
|
0.00061
|
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
|
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)
|
rs373913704
|
0.00059
|
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
|
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter)
|
rs116358011
|
0.00057
|
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
|
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)
|
rs144635826
|
0.00054
|
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
|
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)
|
rs142317242
|
0.00052
|
|
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)
|
rs201845569
|
0.00052
|
|
NM_025114.4(CEP290):c.4705-18C>T
|
rs199751805
|
0.00052
|
|
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile)
|
rs118057448
|
0.00051
|
|
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=)
|
rs145970332
|
0.00051
|
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
|
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)
|
rs199861496
|
0.00051
|
|
NM_025114.4(CEP290):c.6136-19T>G
|
rs377613416
|
0.00050
|
|
NM_015681.6(B9D1):c.567T>C (p.Asp189=)
|
rs776039881
|
0.00049
|
|
NM_024809.5(TCTN2):c.1100-17T>C
|
rs538341461
|
0.00049
|
|
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
|
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)
|
rs368907353
|
0.00048
|
|
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=)
|
rs140230455
|
0.00046
|
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
|
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr)
|
rs919333754
|
0.00046
|
|
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser)
|
rs139927033
|
0.00046
|
|
NM_025114.4(CEP290):c.2595C>T (p.Leu865=)
|
rs114632733
|
0.00046
|
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
|
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)
|
rs115640152
|
0.00046
|
|
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)
|
rs144023021
|
0.00042
|
|
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
0.00042
|
|
NM_001077418.3(TMEM231):c.309+13C>A
|
rs146945255
|
0.00041
|
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
|
NM_153704.6(TMEM67):c.577-6A>G
|
rs191516556
|
0.00041
|
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
|
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)
|
rs371709760
|
0.00039
|
|
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)
|
rs199695154
|
0.00039
|
|
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala)
|
rs146698907
|
0.00039
|
|
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val)
|
rs143515432
|
0.00038
|
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
|
NM_025114.4(CEP290):c.943-8A>T
|
rs200729812
|
0.00037
|
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
|
NM_017777.4(MKS1):c.515+12C>T
|
rs372527189
|
0.00036
|
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
|
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)
|
rs373296447
|
0.00034
|
|
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp)
|
rs201845154
|
0.00034
|
|
NM_001378615.1(CC2D2A):c.3399-15T>C
|
rs181612746
|
0.00033
|
|
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)
|
rs143863631
|
0.00033
|
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
|
NM_001082538.3(TCTN1):c.1038C>T (p.Phe346=)
|
rs377300877
|
0.00031
|
|
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg)
|
rs147499316
|
0.00031
|
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
|
NM_025114.4(CEP290):c.5226+19T>C
|
rs547955106
|
0.00031
|
|
NM_001378615.1(CC2D2A):c.4315-13T>C
|
rs377685137
|
0.00030
|
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
|
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=)
|
rs11860753
|
0.00030
|
|
NM_015272.5(RPGRIP1L):c.3702-16A>G
|
rs372739127
|
0.00030
|
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
|
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)
|
rs182369056
|
0.00029
|
|
NM_015272.5(RPGRIP1L):c.165G>A (p.Leu55=)
|
rs138048667
|
0.00029
|
|
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys)
|
rs181513926
|
0.00029
|
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
|
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=)
|
rs201160801
|
0.00029
|
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
|
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=)
|
rs763570903
|
0.00029
|
|
NM_153704.6(TMEM67):c.2439+17C>T
|
rs375852558
|
0.00029
|
|
NM_024809.5(TCTN2):c.612C>T (p.Thr204=)
|
rs761526808
|
0.00028
|
|
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser)
|
rs145236803
|
0.00028
|
|
NM_001082538.3(TCTN1):c.1635+11C>T
|
rs369922174
|
0.00027
|
|
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met)
|
rs369476930
|
0.00027
|
|
NM_017777.4(MKS1):c.80+14C>T
|
rs761061379
|
0.00027
|
|
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu)
|
rs199931630
|
0.00027
|
|
NM_030578.4(B9D2):c.336G>A (p.Thr112=)
|
rs139072904
|
0.00027
|
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
|
NM_001082538.3(TCTN1):c.1658C>T (p.Thr553Met)
|
rs182406601
|
0.00026
|
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
|
NM_001378615.1(CC2D2A):c.3976-18C>G
|
rs375782772
|
0.00026
|
|
NM_001378615.1(CC2D2A):c.4675-15G>A
|
rs377573053
|
0.00026
|
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
0.00026
|
|
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
|
rs147734438
|
0.00026
|
|
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val)
|
rs147046186
|
0.00026
|
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
|
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=)
|
rs144924117
|
0.00025
|
|
NM_015681.6(B9D1):c.360C>T (p.Pro120=)
|
rs139682891
|
0.00025
|
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
|
NM_001077418.3(TMEM231):c.139+42G>A
|
rs375718217
|
0.00024
|
|
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)
|
rs199776253
|
0.00024
|
|
NM_001082538.3(TCTN1):c.1304A>G (p.Tyr435Cys)
|
rs201007321
|
0.00024
|
|
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=)
|
rs199584658
|
0.00024
|
|
NM_001082538.3(TCTN1):c.713-9G>T
|
rs201293727
|
0.00024
|
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00024
|
|
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)
|
rs374554530
|
0.00024
|
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
|
NM_017777.4(MKS1):c.249G>A (p.Lys83=)
|
rs62636631
|
0.00024
|
|
NM_024809.5(TCTN2):c.1770-20A>G
|
rs538008079
|
0.00024
|
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
|
NM_030578.4(B9D2):c.151A>C (p.Ile51Leu)
|
rs368393895
|
0.00024
|
|
NM_001082538.3(TCTN1):c.1383G>A (p.Leu461=)
|
rs377488330
|
0.00023
|
|
NM_001378615.1(CC2D2A):c.2259C>T (p.Val753=)
|
rs538922641
|
0.00023
|
|
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)
|
rs201219078
|
0.00023
|
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
|
NM_001378615.1(CC2D2A):c.2007G>A (p.Ala669=)
|
rs376644970
|
0.00022
|
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
|
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr)
|
rs201299216
|
0.00022
|
|
NM_017777.4(MKS1):c.644+8G>T
|
rs370117125
|
0.00022
|
|
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu)
|
rs201140519
|
0.00022
|
|
NM_025114.4(CEP290):c.3574-15T>A
|
rs565414938
|
0.00022
|
|
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met)
|
rs370395204
|
0.00022
|
|
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)
|
rs772603458
|
0.00022
|
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
|
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met)
|
rs200460700
|
0.00021
|
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
|
NM_001378615.1(CC2D2A):c.2270C>A (p.Ala757Asp)
|
rs377188181
|
0.00021
|
|
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)
|
rs747204358
|
0.00021
|
|
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys)
|
rs375776718
|
0.00021
|
|
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)
|
rs148230131
|
0.00021
|
|
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)
|
rs141979202
|
0.00021
|
|
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)
|
rs201248643
|
0.00021
|
|
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)
|
rs202149647
|
0.00021
|
|
NM_015681.6(B9D1):c.369C>A (p.Val123=)
|
rs138240520
|
0.00021
|
|
NM_017777.4(MKS1):c.83T>C (p.Val28Ala)
|
rs201957874
|
0.00021
|
|
NM_024809.5(TCTN2):c.1827C>T (p.Asp609=)
|
rs150634667
|
0.00021
|
|
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val)
|
rs137939978
|
0.00021
|
|
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)
|
rs11836796
|
0.00021
|
|
NM_025114.4(CEP290):c.442-18T>A
|
rs532622908
|
0.00021
|
|
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
|
NM_017777.4(MKS1):c.469G>A (p.Glu157Lys)
|
rs200970148
|
0.00020
|
|
NM_024809.5(TCTN2):c.1756G>A (p.Gly586Ser)
|
rs199543783
|
0.00020
|
|
NM_024809.5(TCTN2):c.190+17T>C
|
rs369406967
|
0.00020
|
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
|
NM_025114.4(CEP290):c.853-9G>A
|
rs974759127
|
0.00020
|
|
NM_001077418.3(TMEM231):c.140-15C>T
|
rs201518524
|
0.00019
|
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
|
NM_001077418.3(TMEM231):c.438+12C>T
|
rs1000442477
|
0.00019
|
|
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val)
|
rs373723058
|
0.00019
|
|
NM_001378615.1(CC2D2A):c.2197G>A (p.Gly733Arg)
|
rs372259202
|
0.00019
|
|
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)
|
rs76626268
|
0.00019
|
|
NM_001378615.1(CC2D2A):c.3280C>G (p.Leu1094Val)
|
rs200518703
|
0.00019
|
|
NM_015681.6(B9D1):c.11C>G (p.Ala4Gly)
|
rs148563865
|
0.00019
|
|
NM_017777.4(MKS1):c.1176G>A (p.Pro392=)
|
rs775169308
|
0.00019
|
|
NM_017777.4(MKS1):c.1363G>C (p.Glu455Gln)
|
rs199927741
|
0.00019
|
|
NM_017777.4(MKS1):c.1408-3C>T
|
rs377033273
|
0.00019
|
|
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)
|
rs374656545
|
0.00019
|
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
|
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)
|
rs372292129
|
0.00018
|
|
NM_001378615.1(CC2D2A):c.4815T>C (p.Asn1605=)
|
rs370146822
|
0.00018
|
|
NM_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
|
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)
|
rs201412708
|
0.00017
|
|
NM_015272.5(RPGRIP1L):c.3221-19C>T
|
rs372929131
|
0.00017
|
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
|
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=)
|
rs371752653
|
0.00016
|
|
NM_001082538.3(TCTN1):c.1359C>T (p.Leu453=)
|
rs200935044
|
0.00016
|
|
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)
|
rs140241814
|
0.00016
|
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
|
NM_015272.5(RPGRIP1L):c.612C>T (p.Ala204=)
|
rs373750629
|
0.00016
|
|
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu)
|
rs950609840
|
0.00016
|
|
NM_017777.4(MKS1):c.351G>A (p.Ser117=)
|
rs370781583
|
0.00016
|
|
NM_024809.5(TCTN2):c.1015A>G (p.Lys339Glu)
|
rs563272016
|
0.00016
|
|
NM_024809.5(TCTN2):c.316T>G (p.Ser106Ala)
|
rs148032415
|
0.00016
|
|
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)
|
rs182851622
|
0.00016
|
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
|
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln)
|
rs148087680
|
0.00016
|
|
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)
|
rs200329273
|
0.00016
|
|
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val)
|
rs866563020
|
0.00015
|
|
NM_001378615.1(CC2D2A):c.123+19C>T
|
rs142821756
|
0.00015
|
|
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)
|
rs371608031
|
0.00015
|
|
NM_001378615.1(CC2D2A):c.3368G>A (p.Ser1123Asn)
|
rs377404804
|
0.00015
|
|
NM_001378615.1(CC2D2A):c.718-10C>T
|
rs182383712
|
0.00015
|
|
NM_015272.5(RPGRIP1L):c.481C>T (p.Arg161Cys)
|
rs374860980
|
0.00015
|
|
NM_025114.4(CEP290):c.6522+15T>C
|
rs1050903820
|
0.00015
|
|
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)
|
rs370004832
|
0.00015
|
|
NM_153704.6(TMEM67):c.37G>A (p.Val13Ile)
|
rs561584664
|
0.00015
|
|
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)
|
rs369010440
|
0.00014
|
|
NM_001082538.3(TCTN1):c.1060G>A (p.Val354Ile)
|
rs374701683
|
0.00014
|
|
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp)
|
rs572300029
|
0.00014
|
|
NM_001082538.3(TCTN1):c.1671C>A (p.Ser557=)
|
rs200067409
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)
|
rs376746356
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)
|
rs185072004
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.3014+4A>C
|
rs748451478
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.3113A>T (p.Asp1038Val)
|
rs376913682
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.3288+3G>A
|
rs372903309
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)
|
rs368180778
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.423T>C (p.Thr141=)
|
rs368572539
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.865C>A (p.Pro289Thr)
|
rs371405756
|
0.00014
|
|
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)
|
rs141201084
|
0.00014
|
|
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg)
|
rs111459222
|
0.00014
|
|
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile)
|
rs141838831
|
0.00014
|
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
|
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys)
|
rs200340896
|
0.00014
|
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
|
NM_017777.4(MKS1):c.959-4G>A
|
rs201137386
|
0.00014
|
|
NM_024809.5(TCTN2):c.1394-20A>G
|
rs372424469
|
0.00014
|
|
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)
|
rs370622537
|
0.00014
|
|
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)
|
rs372190684
|
0.00014
|
|
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=)
|
rs375966721
|
0.00014
|
|
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu)
|
rs183387506
|
0.00014
|
|
NM_030578.4(B9D2):c.150G>C (p.Gln50His)
|
rs747988749
|
0.00014
|
|
NM_030578.4(B9D2):c.513C>T (p.Tyr171=)
|
rs143680317
|
0.00014
|
|
NM_153704.6(TMEM67):c.1131+19A>C
|
rs747877982
|
0.00014
|
|
NM_153704.6(TMEM67):c.869+9A>G
|
rs372597584
|
0.00014
|
|
NM_001082538.3(TCTN1):c.1531G>A (p.Ala511Thr)
|
rs369125553
|
0.00013
|
|
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=)
|
rs371066430
|
0.00013
|
|
NM_001378615.1(CC2D2A):c.2431G>A (p.Glu811Lys)
|
rs201303853
|
0.00013
|
|
NM_001378615.1(CC2D2A):c.3744G>T (p.Leu1248=)
|
rs755747140
|
0.00013
|
|
NM_015272.5(RPGRIP1L):c.2874+8T>C
|
rs371853408
|
0.00013
|
|
NM_017777.4(MKS1):c.1128G>A (p.Thr376=)
|
rs369141016
|
0.00013
|
|
NM_017777.4(MKS1):c.903C>T (p.Thr301=)
|
rs142805406
|
0.00013
|
|
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile)
|
rs374199052
|
0.00013
|
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
|
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
|
NM_025114.4(CEP290):c.6876C>T (p.Ser2292=)
|
rs538590274
|
0.00013
|
|
NM_153704.6(TMEM67):c.192T>C (p.Pro64=)
|
rs150383995
|
0.00013
|
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
0.00012
|
|
NM_001082538.3(TCTN1):c.823-6A>G
|
rs377230085
|
0.00012
|
|
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser)
|
rs199563573
|
0.00012
|
|
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=)
|
rs199688524
|
0.00012
|
|
NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln)
|
rs113065116
|
0.00012
|
|
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)
|
rs375774377
|
0.00012
|
|
NM_015272.5(RPGRIP1L):c.960G>A (p.Gln320=)
|
rs148808566
|
0.00012
|
|
NM_015681.6(B9D1):c.245-19C>A
|
rs774504181
|
0.00012
|
|
NM_017777.4(MKS1):c.515+8C>T
|
rs376823839
|
0.00012
|
|
NM_024809.5(TCTN2):c.565-18T>G
|
rs368179378
|
0.00012
|
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
|
NM_025114.4(CEP290):c.31A>G (p.Met11Val)
|
rs185939120
|
0.00012
|
|
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=)
|
rs377227262
|
0.00012
|
|
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile)
|
rs372557655
|
0.00012
|
|
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys)
|
rs367580207
|
0.00012
|
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
|
NM_025114.4(CEP290):c.904A>G (p.Ile302Val)
|
rs764495570
|
0.00012
|
|
NM_153704.6(TMEM67):c.120T>C (p.Ser40=)
|
rs767999682
|
0.00012
|
|
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)
|
rs201949664
|
0.00012
|
|
NM_153704.6(TMEM67):c.312+13T>C
|
rs748077984
|
0.00012
|
|
NM_153704.6(TMEM67):c.312+14A>G
|
rs202135944
|
0.00012
|
|
NM_001077418.3(TMEM231):c.583-9G>A
|
rs371734111
|
0.00011
|
|
NM_001082538.3(TCTN1):c.1015G>C (p.Val339Leu)
|
rs201990420
|
0.00011
|
|
NM_001082538.3(TCTN1):c.1622C>T (p.Ser541Phe)
|
rs752953090
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.1359+10A>G
|
rs373012628
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)
|
rs768337150
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.2595C>T (p.Pro865=)
|
rs770469717
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu)
|
rs368886216
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val)
|
rs137878385
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)
|
rs556542553
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.784G>A (p.Asp262Asn)
|
rs758661538
|
0.00011
|
|
NM_015272.5(RPGRIP1L):c.1029+10C>A
|
rs542635220
|
0.00011
|
|
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp)
|
rs376720589
|
0.00011
|
|
NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile)
|
rs138383101
|
0.00011
|
|
NM_015272.5(RPGRIP1L):c.2304G>A (p.Ser768=)
|
rs770503381
|
0.00011
|
|
NM_015272.5(RPGRIP1L):c.3430C>G (p.Gln1144Glu)
|
rs1050777749
|
0.00011
|
|
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro)
|
rs546359789
|
0.00011
|
|
NM_015681.6(B9D1):c.479G>A (p.Arg160His)
|
rs538949071
|
0.00011
|
|
NM_015681.6(B9D1):c.485G>A (p.Arg162His)
|
rs142346405
|
0.00011
|
|
NM_015681.6(B9D1):c.516C>T (p.Asn172=)
|
rs149758860
|
0.00011
|
|
NM_017777.4(MKS1):c.1287G>A (p.Leu429=)
|
rs555977738
|
0.00011
|
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
|
NM_017777.4(MKS1):c.1605C>G (p.Ala535=)
|
rs35493987
|
0.00011
|
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
|
NM_017777.4(MKS1):c.1653G>C (p.Val551=)
|
rs34092089
|
0.00011
|
|
NM_024809.5(TCTN2):c.1234+5C>G
|
rs201382614
|
0.00011
|
|
NM_024809.5(TCTN2):c.588G>A (p.Thr196=)
|
rs201545344
|
0.00011
|
|
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
0.00011
|
|
NM_025114.4(CEP290):c.3195G>A (p.Lys1065=)
|
rs778596948
|
0.00011
|
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
|
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe)
|
rs11831931
|
0.00011
|
|
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys)
|
rs200158553
|
0.00011
|
|
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)
|
rs377000187
|
0.00011
|
|
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
|
rs368428115
|
0.00011
|
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
|
NM_025114.4(CEP290):c.6960+9C>T
|
rs373226012
|
0.00011
|
|
NM_025114.4(CEP290):c.93C>T (p.Ser31=)
|
rs375955381
|
0.00011
|
|
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)
|
rs563492919
|
0.00010
|
|
NM_001082538.3(TCTN1):c.264C>T (p.Asp88=)
|
rs373685803
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)
|
rs756341605
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.3503G>A (p.Arg1168His)
|
rs375344007
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.4303G>A (p.Gly1435Ser)
|
rs56265649
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His)
|
rs375083236
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.4818T>C (p.Val1606=)
|
rs373897309
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.837G>A (p.Leu279=)
|
rs771694343
|
0.00010
|
|
NM_015272.5(RPGRIP1L):c.111G>A (p.Lys37=)
|
rs774172381
|
0.00010
|
|
NM_015272.5(RPGRIP1L):c.2683+7C>T
|
rs768922800
|
0.00010
|
|
NM_015272.5(RPGRIP1L):c.2898A>G (p.Gln966=)
|
rs1349302634
|
0.00010
|
|
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys)
|
rs769442220
|
0.00010
|
|
NM_025114.4(CEP290):c.298-15G>T
|
rs756197493
|
0.00010
|
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
|
NM_025114.4(CEP290):c.4438-13T>C
|
rs528298900
|
0.00010
|
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
|
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys)
|
rs573872325
|
0.00010
|
|
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr)
|
rs200090371
|
0.00010
|
|
NM_153704.6(TMEM67):c.224-2del
|
rs386834190
|
0.00010
|
|
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=)
|
rs751840699
|
0.00009
|
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
|
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
|
rs375077045
|
0.00009
|
|
NM_001077418.3(TMEM231):c.798A>G (p.Val266=)
|
rs772364535
|
0.00009
|
|
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=)
|
rs758878104
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His)
|
rs373906628
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.1598T>C (p.Val533Ala)
|
rs777351655
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)
|
rs763477416
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.2182-8G>A
|
rs370731685
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg)
|
rs375167917
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu)
|
rs200904521
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.3772-4G>A
|
rs369928983
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)
|
rs370492044
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.3972T>C (p.Thr1324=)
|
rs201357637
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.4314+12C>T
|
rs775304664
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=)
|
rs200434902
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.847A>C (p.Arg283=)
|
rs201649290
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)
|
rs201465430
|
0.00009
|
|
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val)
|
rs140876280
|
0.00009
|
|
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn)
|
rs769686672
|
0.00009
|
|
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)
|
rs149781516
|
0.00009
|
|
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln)
|
rs560144848
|
0.00009
|
|
NM_015272.5(RPGRIP1L):c.2105A>G (p.Glu702Gly)
|
rs193282093
|
0.00009
|
|
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp)
|
rs373201651
|
0.00009
|
|
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)
|
rs367845452
|
0.00009
|
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00009
|
|
NM_015681.6(B9D1):c.341+2T>C
|
rs143149764
|
0.00009
|
|
NM_017777.4(MKS1):c.1338G>A (p.Arg446=)
|
rs1179924577
|
0.00009
|
|
NM_017777.4(MKS1):c.1597C>T (p.Arg533Cys)
|
rs745946583
|
0.00009
|
|
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu)
|
rs771585740
|
0.00009
|
|
NM_017777.4(MKS1):c.516-10T>C
|
rs375046501
|
0.00009
|
|
NM_017777.4(MKS1):c.858+6C>T
|
rs368774719
|
0.00009
|
|
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys)
|
rs369121651
|
0.00009
|
|
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu)
|
rs372687837
|
0.00009
|
|
NM_024809.5(TCTN2):c.1723G>A (p.Ala575Thr)
|
rs202157566
|
0.00009
|
|
NM_024809.5(TCTN2):c.631G>A (p.Val211Ile)
|
rs544183268
|
0.00009
|
|
NM_025114.4(CEP290):c.1523-6T>C
|
rs755202424
|
0.00009
|
|
NM_025114.4(CEP290):c.1825-8T>G
|
rs769405843
|
0.00009
|
|
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
|
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)
|
rs73192874
|
0.00009
|
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
|
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)
|
rs114655330
|
0.00009
|
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
|
NM_153704.6(TMEM67):c.46C>T (p.Leu16Phe)
|
rs367722582
|
0.00009
|
|
NM_153704.6(TMEM67):c.978+19A>G
|
rs575288126
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.1017+1G>A
|
rs200407856
|
0.00008
|
|
NM_001378615.1(CC2D2A):c.1341G>A (p.Ala447=)
|
rs376651324
|
0.00008
|
|
NM_001378615.1(CC2D2A):c.2003+15C>T
|
rs780860390
|
0.00008
|
|
NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg)
|
rs201946793
|
0.00008
|
|
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)
|
rs375243763
|
0.00008
|
|
NM_001378615.1(CC2D2A):c.4518A>G (p.Glu1506=)
|
rs772272007
|
0.00008
|
|
NM_001378615.1(CC2D2A):c.881-8C>T
|
rs114387988
|
0.00008
|
|
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile)
|
rs892392514
|
0.00008
|
|
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)
|
rs202124667
|
0.00008
|
|
NM_015272.5(RPGRIP1L):c.389A>G (p.Lys130Arg)
|
rs765642149
|
0.00008
|
|
NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly)
|
rs547718820
|
0.00008
|
|
NM_017777.4(MKS1):c.323G>A (p.Arg108His)
|
rs200331553
|
0.00008
|
|
NM_017777.4(MKS1):c.759G>A (p.Thr253=)
|
rs770140009
|
0.00008
|
|
NM_024809.5(TCTN2):c.1552G>A (p.Val518Ile)
|
rs147469128
|
0.00008
|
|
NM_024809.5(TCTN2):c.564+3A>C
|
rs761089886
|
0.00008
|
|
NM_024809.5(TCTN2):c.669G>A (p.Thr223=)
|
rs199981419
|
0.00008
|
|
NM_025114.4(CEP290):c.102+15A>G
|
rs372102947
|
0.00008
|
|
NM_025114.4(CEP290):c.1360-10T>C
|
rs372180862
|
0.00008
|
|
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)
|
rs757356455
|
0.00008
|
|
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg)
|
rs755933899
|
0.00008
|
|
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
|
rs772648931
|
0.00008
|
|
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr)
|
rs769705837
|
0.00008
|
|
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val)
|
rs200145042
|
0.00008
|
|
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)
|
rs748221725
|
0.00008
|
|
NM_001077418.3(TMEM231):c.310-17C>T
|
rs752375895
|
0.00007
|
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
|
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=)
|
rs368594302
|
0.00007
|
|
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=)
|
rs541349898
|
0.00007
|
|
NM_001082538.3(TCTN1):c.1636-18T>G
|
rs574360617
|
0.00007
|
|
NM_001082538.3(TCTN1):c.607A>G (p.Thr203Ala)
|
rs1483033032
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.2016G>A (p.Ser672=)
|
rs369398469
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.2192C>T (p.Thr731Ile)
|
rs758339439
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)
|
rs375278294
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.379C>T (p.Arg127Trp)
|
rs145945939
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.4314+6T>C
|
rs764971650
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=)
|
rs762143074
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.4541G>A (p.Arg1514His)
|
rs368191427
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.950G>T (p.Gly317Val)
|
rs775632403
|
0.00007
|
|
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His)
|
rs369451829
|
0.00007
|
|
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala)
|
rs750235612
|
0.00007
|
|
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn)
|
rs138777811
|
0.00007
|
|
NM_015681.6(B9D1):c.597C>G (p.Pro199=)
|
rs753785719
|
0.00007
|
|
NM_017777.4(MKS1):c.1134A>G (p.Glu378=)
|
rs77365082
|
0.00007
|
|
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met)
|
rs755841031
|
0.00007
|
|
NM_017777.4(MKS1):c.468C>T (p.Val156=)
|
rs199684837
|
0.00007
|
|
NM_017777.4(MKS1):c.994G>A (p.Val332Ile)
|
rs775391594
|
0.00007
|
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
|
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=)
|
rs376583223
|
0.00007
|
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
|
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=)
|
rs189871589
|
0.00007
|
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
|
NM_025114.4(CEP290):c.660T>C (p.Asp220=)
|
rs777201814
|
0.00007
|
|
NM_153704.6(TMEM67):c.1674+14A>T
|
rs769381574
|
0.00007
|
|
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg)
|
rs757105976
|
0.00007
|
|
NM_153704.6(TMEM67):c.2907+9T>C
|
rs372865972
|
0.00007
|
|
NM_153704.6(TMEM67):c.69C>T (p.Thr23=)
|
rs745801674
|
0.00007
|
|
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln)
|
rs368402335
|
0.00006
|
|
NM_001077418.3(TMEM231):c.210G>T (p.Val70=)
|
rs757361739
|
0.00006
|
|
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
|
rs762041003
|
0.00006
|
|
NM_001077418.3(TMEM231):c.582+6A>G
|
rs376300743
|
0.00006
|
|
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
|
rs776287219
|
0.00006
|
|
NM_001077418.3(TMEM231):c.665-19G>A
|
rs200581224
|
0.00006
|
|
NM_001082538.3(TCTN1):c.162C>T (p.Pro54=)
|
rs751912758
|
0.00006
|
|
NM_001082538.3(TCTN1):c.341+1G>A
|
rs200241085
|
0.00006
|
|
NM_001082538.3(TCTN1):c.672G>A (p.Ser224=)
|
rs763386832
|
0.00006
|
|
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=)
|
rs371899538
|
0.00006
|
|
NM_001082538.3(TCTN1):c.8C>T (p.Pro3Leu)
|
rs772390489
|
0.00006
|
|
NM_001082538.3(TCTN1):c.901C>T (p.Arg301Trp)
|
rs755328291
|
0.00006
|
|
NM_001082538.3(TCTN1):c.939C>T (p.Asn313=)
|
rs375034561
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.1038T>C (p.Asp346=)
|
rs377679382
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.123+12C>A
|
rs547389759
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.1466+3G>A
|
rs574767203
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.1553C>A (p.Ser518Tyr)
|
rs375633207
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=)
|
rs755367503
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.2542A>C (p.Met848Leu)
|
rs376403848
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.286G>A (p.Ala96Thr)
|
rs376438052
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.3157A>G (p.Ile1053Val)
|
rs148194457
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu)
|
rs200034384
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)
|
rs267606709
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.3381A>G (p.Glu1127=)
|
rs373780145
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
|
rs377177061
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.3985G>C (p.Ala1329Pro)
|
rs951039594
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.4460G>A (p.Arg1487His)
|
rs971832306
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)
|
rs768733110
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.898C>T (p.Leu300Phe)
|
rs779150444
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)
|
rs375247004
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.949G>A (p.Gly317Arg)
|
rs188018643
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.1071T>A (p.Leu357=)
|
rs549925964
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=)
|
rs760245904
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro)
|
rs150099624
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.1397T>C (p.Ile466Thr)
|
rs199786347
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=)
|
rs149464542
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.279G>C (p.Glu93Asp)
|
rs762264695
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn)
|
rs766943204
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.3544C>G (p.Pro1182Ala)
|
rs61742648
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.3832G>A (p.Asp1278Asn)
|
rs370655253
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.3857G>T (p.Gly1286Val)
|
rs755820734
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys)
|
rs527539036
|
0.00006
|
|
NM_015681.6(B9D1):c.131C>T (p.Ala44Val)
|
rs149845104
|
0.00006
|
|
NM_015681.6(B9D1):c.584G>T (p.Gly195Val)
|
rs758466581
|
0.00006
|
|
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)
|
rs928775924
|
0.00006
|
|
NM_017777.4(MKS1):c.1580A>G (p.Asn527Ser)
|
rs774309110
|
0.00006
|
|
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln)
|
rs746283445
|
0.00006
|
|
NM_017777.4(MKS1):c.673C>T (p.Leu225=)
|
rs370632053
|
0.00006
|
|
NM_017777.4(MKS1):c.729G>A (p.Thr243=)
|
rs373491923
|
0.00006
|
|
NM_017777.4(MKS1):c.894C>T (p.Leu298=)
|
rs754839039
|
0.00006
|
|
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr)
|
rs372235872
|
0.00006
|
|
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)
|
rs553095875
|
0.00006
|
|
NM_024809.5(TCTN2):c.1724C>T (p.Ala575Val)
|
rs763649240
|
0.00006
|
|
NM_024809.5(TCTN2):c.1914A>G (p.Thr638=)
|
rs769763960
|
0.00006
|
|
NM_024809.5(TCTN2):c.267+1G>A
|
rs141752910
|
0.00006
|
|
NM_024809.5(TCTN2):c.598C>T (p.Arg200Trp)
|
rs371559095
|
0.00006
|
|
NM_024809.5(TCTN2):c.764+19G>A
|
rs371865300
|
0.00006
|
|
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr)
|
rs147746146
|
0.00006
|
|
NM_024809.5(TCTN2):c.910T>C (p.Cys304Arg)
|
rs765523709
|
0.00006
|
|
NM_025114.4(CEP290):c.1440A>G (p.Glu480=)
|
rs777299440
|
0.00006
|
|
NM_025114.4(CEP290):c.1712-14T>A
|
rs765835575
|
0.00006
|
|
NM_025114.4(CEP290):c.189T>C (p.Ala63=)
|
rs996908777
|
0.00006
|
|
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)
|
rs776360559
|
0.00006
|
|
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=)
|
rs900618917
|
0.00006
|
|
NM_025114.4(CEP290):c.3573+3A>G
|
rs199520739
|
0.00006
|
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
|
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp)
|
rs771110294
|
0.00006
|
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
|
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)
|
rs369451049
|
0.00006
|
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
|
NM_025114.4(CEP290):c.5012+15T>C
|
rs538803349
|
0.00006
|
|
NM_025114.4(CEP290):c.5227-9A>G
|
rs571981633
|
0.00006
|
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
|
NM_025114.4(CEP290):c.5709+12A>G
|
rs371010287
|
0.00006
|
|
NM_025114.4(CEP290):c.6358-5C>T
|
rs372986399
|
0.00006
|
|
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=)
|
rs556820066
|
0.00006
|
|
NM_025114.4(CEP290):c.6522+7T>G
|
rs754878322
|
0.00006
|
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
|
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=)
|
rs774138995
|
0.00006
|
|
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)
|
rs201382524
|
0.00006
|
|
NM_025114.4(CEP290):c.755A>T (p.Lys252Met)
|
rs991079890
|
0.00006
|
|
NM_153704.6(TMEM67):c.1961-19A>G
|
rs996724179
|
0.00006
|
|
NM_153704.6(TMEM67):c.2100+5A>G
|
rs545189546
|
0.00006
|
|
NM_153704.6(TMEM67):c.2175T>C (p.Ala725=)
|
rs368159329
|
0.00006
|
|
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys)
|
rs192288680
|
0.00006
|
|
NM_153704.6(TMEM67):c.279T>C (p.Pro93=)
|
rs199900812
|
0.00006
|
|
NM_153704.6(TMEM67):c.510C>T (p.Cys170=)
|
rs754191151
|
0.00006
|
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
|
NM_153704.6(TMEM67):c.651+5G>A
|
rs970248353
|
0.00006
|
|
NM_153704.6(TMEM67):c.652-13T>C
|
rs376654537
|
0.00006
|
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
|
NM_153704.6(TMEM67):c.717A>G (p.Val239=)
|
rs111991507
|
0.00006
|
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
|
NM_153704.6(TMEM67):c.869+17T>A
|
rs767408748
|
0.00006
|
|
NM_153704.6(TMEM67):c.870-17G>C
|
rs554004174
|
0.00006
|
|
NC_000016.10:g.75556271T>G
|
rs964025567
|
0.00005
|
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
|
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=)
|
rs769897831
|
0.00005
|
|
NM_001082538.3(TCTN1):c.1739A>G (p.Asn580Ser)
|
rs757300709
|
0.00005
|
|
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile)
|
rs776696098
|
0.00005
|
|
NM_001082538.3(TCTN1):c.285C>T (p.Pro95=)
|
rs199664343
|
0.00005
|
|
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)
|
rs199529768
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.1193G>A (p.Gly398Glu)
|
rs200429882
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln)
|
rs780924556
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.1360-11G>A
|
rs181633376
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys)
|
rs373080748
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.1645G>A (p.Glu549Lys)
|
rs368788560
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)
|
rs199909714
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.282C>T (p.Gly94=)
|
rs182119485
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.3514A>G (p.Ser1172Gly)
|
rs371924209
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu)
|
rs766400907
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.4540C>T (p.Arg1514Cys)
|
rs756324214
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln)
|
rs200645738
|
0.00005
|
|
NM_001378615.1(CC2D2A):c.845A>C (p.Glu282Ala)
|
rs760099299
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.1029+3A>C
|
rs778583149
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)
|
rs76600508
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys)
|
rs139964287
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)
|
rs532412372
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=)
|
rs143189638
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.3701+14G>A
|
rs370009233
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu)
|
rs141574764
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.883-7C>A
|
rs372349467
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00005
|
|
NM_017777.4(MKS1):c.1506G>A (p.Ser502=)
|
rs368535131
|
0.00005
|
|
NM_017777.4(MKS1):c.498G>T (p.Arg166=)
|
rs778956664
|
0.00005
|
|
NM_024809.5(TCTN2):c.1612+1G>A
|
rs371537478
|
0.00005
|
|
NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser)
|
rs138562955
|
0.00005
|
|
NM_024809.5(TCTN2):c.267+3A>G
|
rs748772785
|
0.00005
|
|
NM_024809.5(TCTN2):c.82+11C>T
|
rs377654309
|
0.00005
|
|
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys)
|
rs373414042
|
0.00005
|
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
|
NM_025114.4(CEP290):c.2967A>G (p.Arg989=)
|
rs371556205
|
0.00005
|
|
NM_025114.4(CEP290):c.4186C>G (p.Gln1396Glu)
|
rs1459653241
|
0.00005
|
|
NM_025114.4(CEP290):c.441+18T>C
|
rs756876705
|
0.00005
|
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
|
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)
|
rs757738553
|
0.00005
|
|
NM_025114.4(CEP290):c.6358-4G>A
|
rs369154492
|
0.00005
|
|
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr)
|
rs376033047
|
0.00005
|
|
NM_153704.6(TMEM67):c.1561C>T (p.His521Tyr)
|
rs558566529
|
0.00005
|
|
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His)
|
rs146130549
|
0.00005
|
|
NM_153704.6(TMEM67):c.1860+14G>T
|
rs369727716
|
0.00005
|
|
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)
|
rs369812327
|
0.00005
|
|
NM_153704.6(TMEM67):c.453G>C (p.Glu151Asp)
|
rs200155700
|
0.00005
|
|
NM_153704.6(TMEM67):c.507G>A (p.Arg169=)
|
rs759319668
|
0.00005
|
|
NM_001077418.3(TMEM231):c.139+27C>T
|
rs773052053
|
0.00004
|
|
NM_001077418.3(TMEM231):c.140-33C>T
|
rs901311435
|
0.00004
|
|
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)
|
rs774528098
|
0.00004
|
|
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=)
|
rs760694007
|
0.00004
|
|
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=)
|
rs778118263
|
0.00004
|
|
NM_001077418.3(TMEM231):c.309+12C>A
|
rs561475784
|
0.00004
|
|
NM_001077418.3(TMEM231):c.438+5G>C
|
rs1472951348
|
0.00004
|
|
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln)
|
rs756494100
|
0.00004
|
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
|
NM_001077418.3(TMEM231):c.665-10T>C
|
rs201237881
|
0.00004
|
|
NM_001077418.3(TMEM231):c.759G>A (p.Val253=)
|
rs1020757759
|
0.00004
|
|
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr)
|
rs770469234
|
0.00004
|
|
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)
|
rs373660568
|
0.00004
|
|
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His)
|
rs753292136
|
0.00004
|
|
NM_001082538.3(TCTN1):c.1095T>C (p.His365=)
|
rs767963074
|
0.00004
|
|
NM_001082538.3(TCTN1):c.1540A>G (p.Ile514Val)
|
rs371539069
|
0.00004
|
|
NM_001082538.3(TCTN1):c.473-20_473-19del
|
rs762957362
|
0.00004
|
|
NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn)
|
rs545613207
|
0.00004
|
|
NM_001082538.3(TCTN1):c.712+1G>A
|
rs200863258
|
0.00004
|
|
NM_001082538.3(TCTN1):c.822+18G>C
|
rs367638462
|
0.00004
|
|
NM_001082538.3(TCTN1):c.864C>T (p.Ser288=)
|
rs759380913
|
0.00004
|
|
NM_001082538.3(TCTN1):c.927G>A (p.Pro309=)
|
rs777373658
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1091C>T (p.Pro364Leu)
|
rs768618373
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)
|
rs760839591
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val)
|
rs775138548
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1422C>T (p.Leu474=)
|
rs377448964
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val)
|
rs751646059
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1728G>A (p.Thr576=)
|
rs373277928
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1895A>C (p.Gln632Pro)
|
rs777510836
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala)
|
rs766282869
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2101C>G (p.Leu701Val)
|
rs537906621
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2181+6C>T
|
rs997637353
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2339-15C>G
|
rs763052758
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=)
|
rs766042434
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2441T>C (p.Ile814Thr)
|
rs369305472
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2626-11G>A
|
rs756555172
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)
|
rs563610095
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2843G>A (p.Arg948Gln)
|
rs532411276
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
|
rs770896540
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.308G>A (p.Arg103His)
|
rs566281691
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=)
|
rs779304750
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.3640T>C (p.Tyr1214His)
|
rs759970546
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly)
|
rs765661601
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.4116G>A (p.Leu1372=)
|
rs766991790
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.415T>C (p.Leu139=)
|
rs570078140
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)
|
rs387907058
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.4452T>A (p.Ile1484=)
|
rs373762896
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.4766C>G (p.Pro1589Arg)
|
rs374301736
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln)
|
rs745699870
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.541G>A (p.Val181Ile)
|
rs745646755
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys)
|
rs376969878
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1029+12A>G
|
rs374781718
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1029+19T>C
|
rs370612492
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly)
|
rs752128105
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1104-13G>A
|
rs775179294
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1244-18G>A
|
rs923409583
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=)
|
rs376335724
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1375T>C (p.Leu459=)
|
rs766752672
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1401+4A>G
|
rs727503880
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1448T>C (p.Val483Ala)
|
rs146565951
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1582-11T>G
|
rs182981308
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly)
|
rs794727129
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1628A>G (p.Asp543Gly)
|
rs776600721
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1699+11T>C
|
rs189805541
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1805G>A (p.Arg602Gln)
|
rs902687917
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)
|
rs374098422
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.201T>C (p.His67=)
|
rs762755851
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val)
|
rs769280712
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=)
|
rs145807002
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)
|
rs371763050
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3061-18G>A
|
rs1231406468
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)
|
rs886052093
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)
|
rs201413825
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)
|
rs750930363
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)
|
rs989489575
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3739G>A (p.Glu1247Lys)
|
rs201312119
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3903C>T (p.Ala1301=)
|
rs773361667
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
|
rs121918197
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.709A>T (p.Arg237Trp)
|
rs369055168
|
0.00004
|
|
NM_015681.6(B9D1):c.301C>G (p.Arg101Gly)
|
rs752718131
|
0.00004
|
|
NM_015681.6(B9D1):c.33C>T (p.Leu11=)
|
rs751480715
|
0.00004
|
|
NM_015681.6(B9D1):c.41A>G (p.Asn14Ser)
|
rs764022966
|
0.00004
|
|
NM_015681.6(B9D1):c.469G>A (p.Glu157Lys)
|
rs146272049
|
0.00004
|
|
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)
|
rs201998680
|
0.00004
|
|
NM_017777.4(MKS1):c.1273+6C>T
|
rs371480628
|
0.00004
|
|
NM_017777.4(MKS1):c.1273+7G>A
|
rs569463908
|
0.00004
|
|
NM_017777.4(MKS1):c.1274-4G>A
|
rs377033778
|
0.00004
|
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
|
NM_017777.4(MKS1):c.191-6T>G
|
rs748412372
|
0.00004
|
|
NM_017777.4(MKS1):c.261+20C>A
|
rs370117635
|
0.00004
|
|
NM_017777.4(MKS1):c.36G>T (p.Glu12Asp)
|
rs1386455261
|
0.00004
|
|
NM_017777.4(MKS1):c.417+17G>C
|
rs780446139
|
0.00004
|
|
NM_017777.4(MKS1):c.644+10G>A
|
rs544053540
|
0.00004
|
|
NM_017777.4(MKS1):c.70T>C (p.Leu24=)
|
rs538371478
|
0.00004
|
|
NM_017777.4(MKS1):c.822G>A (p.Pro274=)
|
rs375557871
|
0.00004
|
|
NM_017777.4(MKS1):c.869G>A (p.Arg290Gln)
|
rs755840522
|
0.00004
|
|
NM_024809.5(TCTN2):c.1055T>A (p.Ile352Asn)
|
rs762326056
|
0.00004
|
|
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)
|
rs543166165
|
0.00004
|
|
NM_024809.5(TCTN2):c.1337G>A (p.Arg446Gln)
|
rs781699024
|
0.00004
|
|
NM_024809.5(TCTN2):c.1402G>A (p.Gly468Ser)
|
rs148262537
|
0.00004
|
|
NM_024809.5(TCTN2):c.1474G>T (p.Val492Phe)
|
rs1449279317
|
0.00004
|
|
NM_024809.5(TCTN2):c.1572C>T (p.Ser524=)
|
rs367689968
|
0.00004
|
|
NM_024809.5(TCTN2):c.1612+11C>T
|
rs376075139
|
0.00004
|
|
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=)
|
rs201834126
|
0.00004
|
|
NM_024809.5(TCTN2):c.1895+12G>A
|
rs1248269049
|
0.00004
|
|
NM_024809.5(TCTN2):c.2066G>C (p.Trp689Ser)
|
rs771335558
|
0.00004
|
|
NM_024809.5(TCTN2):c.273G>A (p.Val91=)
|
rs375065995
|
0.00004
|
|
NM_024809.5(TCTN2):c.429T>C (p.Ile143=)
|
rs188417716
|
0.00004
|
|
NM_024809.5(TCTN2):c.465G>A (p.Glu155=)
|
rs150583279
|
0.00004
|
|
NM_024809.5(TCTN2):c.468C>T (p.Asn156=)
|
rs771396774
|
0.00004
|
|
NM_024809.5(TCTN2):c.577A>C (p.Asn193His)
|
rs370944870
|
0.00004
|
|
NM_024809.5(TCTN2):c.83-16T>G
|
rs1223559773
|
0.00004
|
|
NM_024809.5(TCTN2):c.960C>T (p.Cys320=)
|
rs145332333
|
0.00004
|
|
NM_024809.5(TCTN2):c.979T>C (p.Tyr327His)
|
rs545101214
|
0.00004
|
|
NM_025114.4(CEP290):c.1104C>T (p.Thr368=)
|
rs483352755
|
0.00004
|
|
NM_025114.4(CEP290):c.1712-3T>C
|
rs376688469
|
0.00004
|
|
NM_025114.4(CEP290):c.1905T>C (p.Asn635=)
|
rs778341097
|
0.00004
|
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
|
NM_025114.4(CEP290):c.204G>A (p.Leu68=)
|
rs780930630
|
0.00004
|
|
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala)
|
rs969763835
|
0.00004
|
|
NM_025114.4(CEP290):c.2217+6A>G
|
rs139027723
|
0.00004
|
|
NM_025114.4(CEP290):c.2218-5T>C
|
rs939517627
|
0.00004
|
|
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val)
|
rs754736974
|
0.00004
|
|
NM_025114.4(CEP290):c.2244T>C (p.Ser748=)
|
rs979564116
|
0.00004
|
|
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp)
|
rs372321551
|
0.00004
|
|
NM_025114.4(CEP290):c.2784T>C (p.Val928=)
|
rs774271927
|
0.00004
|
|
NM_025114.4(CEP290):c.288T>C (p.Asn96=)
|
rs367691481
|
0.00004
|
|
NM_025114.4(CEP290):c.2907C>T (p.Tyr969=)
|
rs376462144
|
0.00004
|
|
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
|
rs1038566350
|
0.00004
|
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
0.00004
|
|
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=)
|
rs771584252
|
0.00004
|
|
NM_025114.4(CEP290):c.332G>A (p.Arg111Gln)
|
rs562747993
|
0.00004
|
|
NM_025114.4(CEP290):c.3462-11T>C
|
rs1296210160
|
0.00004
|
|
NM_025114.4(CEP290):c.3747C>T (p.Leu1249=)
|
rs779178851
|
0.00004
|
|
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)
|
rs763801479
|
0.00004
|
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
0.00004
|
|
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=)
|
rs769060806
|
0.00004
|
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
|
NM_025114.4(CEP290):c.4132A>G (p.Ile1378Val)
|
rs532041890
|
0.00004
|
|
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)
|
rs143152287
|
0.00004
|
|
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val)
|
rs762417751
|
0.00004
|
|
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=)
|
rs779186037
|
0.00004
|
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
|
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
|
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)
|
rs372592245
|
0.00004
|
|
NM_025114.4(CEP290):c.4963A>C (p.Arg1655=)
|
rs1161295348
|
0.00004
|
|
NM_025114.4(CEP290):c.5012+11G>A
|
rs778779951
|
0.00004
|
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
|
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)
|
rs186330724
|
0.00004
|
|
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp)
|
rs769370948
|
0.00004
|
|
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)
|
rs780570235
|
0.00004
|
|
NM_025114.4(CEP290):c.609C>T (p.Asp203=)
|
rs767725492
|
0.00004
|
|
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly)
|
rs987259388
|
0.00004
|
|
NM_025114.4(CEP290):c.6271-15C>T
|
rs764251517
|
0.00004
|
|
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter)
|
rs1294402003
|
0.00004
|
|
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro)
|
rs1006780282
|
0.00004
|
|
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)
|
rs765709669
|
0.00004
|
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
|
NM_030578.4(B9D2):c.309G>A (p.Pro103=)
|
rs201735642
|
0.00004
|
|
NM_030578.4(B9D2):c.495C>T (p.Leu165=)
|
rs542445852
|
0.00004
|
|
NM_030578.4(B9D2):c.89-15C>T
|
rs371483684
|
0.00004
|
|
NM_153704.6(TMEM67):c.1033A>G (p.Lys345Glu)
|
rs764304394
|
0.00004
|
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
|
NM_153704.6(TMEM67):c.1352G>A (p.Arg451Gln)
|
rs75165625
|
0.00004
|
|
NM_153704.6(TMEM67):c.1412+19A>G
|
rs757870971
|
0.00004
|
|
NM_153704.6(TMEM67):c.1413-12T>G
|
rs369870113
|
0.00004
|
|
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)
|
rs774288177
|
0.00004
|
|
NM_153704.6(TMEM67):c.1773+10T>C
|
rs371485093
|
0.00004
|
|
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)
|
rs150332116
|
0.00004
|
|
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu)
|
rs780823805
|
0.00004
|
|
NM_153704.6(TMEM67):c.2556+4T>G
|
rs772449181
|
0.00004
|
|
NM_153704.6(TMEM67):c.261C>T (p.Ile87=)
|
rs190249177
|
0.00004
|
|
NM_153704.6(TMEM67):c.2765-12T>A
|
rs1232793342
|
0.00004
|
|
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met)
|
rs771551765
|
0.00004
|
|
NM_153704.6(TMEM67):c.2932G>A (p.Val978Ile)
|
rs371965185
|
0.00004
|
|
NM_153704.6(TMEM67):c.313-19T>C
|
rs748779738
|
0.00004
|
|
NM_153704.6(TMEM67):c.31A>G (p.Met11Val)
|
rs758761945
|
0.00004
|
|
NM_153704.6(TMEM67):c.507-16T>C
|
rs367547273
|
0.00004
|
|
NM_153704.6(TMEM67):c.599G>A (p.Ser200Asn)
|
rs1284289042
|
0.00004
|
|
NM_153704.6(TMEM67):c.978+5A>C
|
rs1022082198
|
0.00004
|
|
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln)
|
rs769351856
|
0.00004
|
|
NC_000016.10:g.75556255C>T
|
rs752769188
|
0.00003
|
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
|
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser)
|
rs372775075
|
0.00003
|
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
|
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)
|
rs750897443
|
0.00003
|
|
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)
|
rs534627748
|
0.00003
|
|
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn)
|
rs769321473
|
0.00003
|
|
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln)
|
rs1033608835
|
0.00003
|
|
NM_001077418.3(TMEM231):c.438+1G>A
|
rs1415483600
|
0.00003
|
|
NM_001077418.3(TMEM231):c.771-4A>C
|
rs199768195
|
0.00003
|
|
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=)
|
rs1412070252
|
0.00003
|
|
NM_001082538.3(TCTN1):c.1059C>T (p.Ser353=)
|
rs370906446
|
0.00003
|
|
NM_001082538.3(TCTN1):c.1282C>T (p.Arg428Trp)
|
rs572643772
|
0.00003
|
|
NM_001082538.3(TCTN1):c.1350G>A (p.Pro450=)
|
rs781366326
|
0.00003
|
|
NM_001082538.3(TCTN1):c.1421T>C (p.Phe474Ser)
|
rs368668920
|
0.00003
|
|
NM_001082538.3(TCTN1):c.1463T>C (p.Ile488Thr)
|
rs1291891063
|
0.00003
|
|
NM_001082538.3(TCTN1):c.1494+20G>A
|
rs1024500142
|
0.00003
|
|
NM_001082538.3(TCTN1):c.21G>T (p.Pro7=)
|
rs760813360
|
0.00003
|
|
NM_001082538.3(TCTN1):c.438T>G (p.Ile146Met)
|
rs370390020
|
0.00003
|
|
NM_001082538.3(TCTN1):c.527A>G (p.Asp176Gly)
|
rs771704189
|
0.00003
|
|
NM_001082538.3(TCTN1):c.559T>C (p.Leu187=)
|
rs376935369
|
0.00003
|
|
NM_001082538.3(TCTN1):c.612T>A (p.Ala204=)
|
rs983405128
|
0.00003
|
|
NM_001082538.3(TCTN1):c.810G>A (p.Pro270=)
|
rs771664440
|
0.00003
|
|
NM_001082538.3(TCTN1):c.817C>T (p.Leu273=)
|
rs775207770
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.1093C>G (p.Pro365Ala)
|
rs375385399
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly)
|
rs758963962
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.1153G>A (p.Val385Ile)
|
rs1401215213
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.1426A>G (p.Thr476Ala)
|
rs777726035
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.1451A>G (p.Tyr484Cys)
|
rs746279803
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.192G>A (p.Val64=)
|
rs745986665
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2004-12C>A
|
rs141372003
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2083A>C (p.Arg695=)
|
rs750219979
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2141A>G (p.Asn714Ser)
|
rs771224275
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2181+17T>C
|
rs1016233369
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)
|
rs1379770755
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys)
|
rs751808973
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg)
|
rs367560550
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2487-17T>C
|
rs909380640
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.248G>A (p.Ser83Asn)
|
rs930307925
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2519T>C (p.Ile840Thr)
|
rs373111926
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2885A>G (p.Asp962Gly)
|
rs201631131
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.2922+16T>C
|
rs767460385
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3084G>C (p.Arg1028=)
|
rs373698524
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3153C>T (p.Tyr1051=)
|
rs373671064
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3631C>G (p.Leu1211Val)
|
rs753905430
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg)
|
rs763466980
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.388C>T (p.Arg130Cys)
|
rs886042463
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.389G>A (p.Arg130His)
|
rs778519147
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3975+19A>G
|
rs758410900
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4194T>C (p.Tyr1398=)
|
rs752902174
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)
|
rs529437224
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.439-13T>G
|
rs1305181844
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)
|
rs587779732
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro)
|
rs763425007
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4738A>G (p.Ser1580Gly)
|
rs377460557
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4762G>A (p.Val1588Ile)
|
rs1323627048
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val)
|
rs200044412
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.948C>T (p.Thr316=)
|
rs201439700
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1103+7C>T
|
rs761579460
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1104-14C>T
|
rs763897513
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg)
|
rs750446830
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1244-1G>T
|
rs1306595038
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1351-7A>G
|
rs559918716
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1393C>T (p.Leu465Phe)
|
rs758403877
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.140G>A (p.Arg47His)
|
rs773558676
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala)
|
rs202201818
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.167G>A (p.Arg56His)
|
rs374157187
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys)
|
rs766404857
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1816C>G (p.Leu606Val)
|
rs552056656
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)
|
rs145572901
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2103C>T (p.His701=)
|
rs540930741
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2104G>A (p.Glu702Lys)
|
rs199975230
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg)
|
rs780023355
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2262G>A (p.Gly754=)
|
rs775616241
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2397C>T (p.Cys799=)
|
rs758547965
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2403C>T (p.His801=)
|
rs1390109484
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2425C>G (p.Leu809Val)
|
rs370180090
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp)
|
rs770098954
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2542A>G (p.Met848Val)
|
rs767112083
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2806A>G (p.Ile936Val)
|
rs763369161
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2875-19A>G
|
rs370091137
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3013A>G (p.Ile1005Val)
|
rs780310164
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3202G>A (p.Glu1068Lys)
|
rs771457754
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly)
|
rs372404481
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys)
|
rs1030543863
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3433-8T>G
|
rs757913656
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=)
|
rs762140481
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met)
|
rs142387463
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)
|
rs536037779
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)
|
rs377402117
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3920A>G (p.Lys1307Arg)
|
rs139246920
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.529+17G>A
|
rs754295905
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.530-7T>C
|
rs780569188
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.663G>T (p.Gln221His)
|
rs776104875
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile)
|
rs151174849
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.776+13A>C
|
rs772348382
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.840T>C (p.Asn280=)
|
rs781135802
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr)
|
rs772520453
|
0.00003
|
|
NM_015681.6(B9D1):c.109G>A (p.Gly37Ser)
|
rs771997194
|
0.00003
|
|
NM_015681.6(B9D1):c.381G>A (p.Thr127=)
|
rs755165652
|
0.00003
|
|
NM_015681.6(B9D1):c.421C>T (p.Arg141Trp)
|
rs752121172
|
0.00003
|
|
NM_015681.6(B9D1):c.603C>A (p.Ser201Arg)
|
rs547869203
|
0.00003
|
|
NM_017777.4(MKS1):c.1024+10A>G
|
rs749001732
|
0.00003
|
|
NM_017777.4(MKS1):c.1095+18G>A
|
rs371273226
|
0.00003
|
|
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)
|
rs763534380
|
0.00003
|
|
NM_017777.4(MKS1):c.1260G>A (p.Leu420=)
|
rs749099410
|
0.00003
|
|
NM_017777.4(MKS1):c.1274-5C>T
|
rs762686385
|
0.00003
|
|
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)
|
rs367625961
|
0.00003
|
|
NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp)
|
rs766392300
|
0.00003
|
|
NM_017777.4(MKS1):c.1408-15A>G
|
rs762989365
|
0.00003
|
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
|
NM_017777.4(MKS1):c.1528C>T (p.Arg510Trp)
|
rs757310695
|
0.00003
|
|
NM_017777.4(MKS1):c.1534G>A (p.Val512Met)
|
rs370130538
|
0.00003
|
|
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)
|
rs775558298
|
0.00003
|
|
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)
|
rs772719574
|
0.00003
|
|
NM_017777.4(MKS1):c.252C>G (p.Leu84=)
|
rs969699321
|
0.00003
|
|
NM_017777.4(MKS1):c.30C>T (p.Thr10=)
|
rs576239597
|
0.00003
|
|
NM_017777.4(MKS1):c.314A>C (p.Tyr105Ser)
|
rs1440792737
|
0.00003
|
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
|
NM_017777.4(MKS1):c.543C>T (p.Ile181=)
|
rs1156392394
|
0.00003
|
|
NM_017777.4(MKS1):c.585C>T (p.His195=)
|
rs200628275
|
0.00003
|
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
|
NM_017777.4(MKS1):c.821C>T (p.Pro274Leu)
|
rs770088105
|
0.00003
|
|
NM_017777.4(MKS1):c.835C>T (p.Arg279Trp)
|
rs189255737
|
0.00003
|
|
NM_017777.4(MKS1):c.858+7G>A
|
rs918270665
|
0.00003
|
|
NM_017777.4(MKS1):c.904G>A (p.Asp302Asn)
|
rs750025608
|
0.00003
|
|
NM_017777.4(MKS1):c.918T>C (p.Thr306=)
|
rs373269341
|
0.00003
|
|
NM_024809.5(TCTN2):c.1440T>C (p.Phe480=)
|
rs760942775
|
0.00003
|
|
NM_024809.5(TCTN2):c.1990C>G (p.Leu664Val)
|
rs554299771
|
0.00003
|
|
NM_024809.5(TCTN2):c.271G>T (p.Val91Leu)
|
rs371662397
|
0.00003
|
|
NM_024809.5(TCTN2):c.325G>A (p.Glu109Lys)
|
rs773010019
|
0.00003
|
|
NM_024809.5(TCTN2):c.412C>T (p.Leu138Phe)
|
rs372053991
|
0.00003
|
|
NM_024809.5(TCTN2):c.444T>C (p.Ser148=)
|
rs771060074
|
0.00003
|
|
NM_024809.5(TCTN2):c.449C>G (p.Thr150Ser)
|
rs759741387
|
0.00003
|
|
NM_024809.5(TCTN2):c.630C>T (p.Asp210=)
|
rs560269152
|
0.00003
|
|
NM_024809.5(TCTN2):c.679G>C (p.Gly227Arg)
|
rs1051821648
|
0.00003
|
|
NM_024809.5(TCTN2):c.781T>C (p.Ser261Pro)
|
rs140814969
|
0.00003
|
|
NM_024809.5(TCTN2):c.83-9C>G
|
rs775671051
|
0.00003
|
|
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)
|
rs764079993
|
0.00003
|
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
|
NM_025114.4(CEP290):c.1386C>T (p.Val462=)
|
rs886038689
|
0.00003
|
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
|
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)
|
rs561018129
|
0.00003
|
|
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser)
|
rs375523390
|
0.00003
|
|
NM_025114.4(CEP290):c.2367+4T>C
|
rs1413934261
|
0.00003
|
|
NM_025114.4(CEP290):c.2368-7T>C
|
rs1470044444
|
0.00003
|
|
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)
|
rs768448895
|
0.00003
|
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
|
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
|
rs948383352
|
0.00003
|
|
NM_025114.4(CEP290):c.3246C>T (p.His1082=)
|
rs539042966
|
0.00003
|
|
NM_025114.4(CEP290):c.3310-7T>G
|
rs373298179
|
0.00003
|
|
NM_025114.4(CEP290):c.3462-12A>G
|
rs778134699
|
0.00003
|
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
|
NM_025114.4(CEP290):c.3664G>A (p.Glu1222Lys)
|
rs770015278
|
0.00003
|
|
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=)
|
rs777382672
|
0.00003
|
|
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
|
rs1337676817
|
0.00003
|
|
NM_025114.4(CEP290):c.4195-9T>C
|
rs546957016
|
0.00003
|
|
NM_025114.4(CEP290):c.442-20_442-19insA
|
rs772322663
|
0.00003
|
|
NM_025114.4(CEP290):c.4438-7A>G
|
rs764079476
|
0.00003
|
|
NM_025114.4(CEP290):c.4707G>A (p.Glu1569=)
|
rs376242512
|
0.00003
|
|
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)
|
rs769280708
|
0.00003
|
|
NM_025114.4(CEP290):c.4972A>G (p.Thr1658Ala)
|
rs1237184267
|
0.00003
|
|
NM_025114.4(CEP290):c.5010A>C (p.Leu1670Phe)
|
rs1264789609
|
0.00003
|
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
|
NM_025114.4(CEP290):c.5271A>C (p.Ala1757=)
|
rs368906813
|
0.00003
|
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
|
NM_025114.4(CEP290):c.534G>T (p.Gln178His)
|
rs368025801
|
0.00003
|
|
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)
|
rs372565248
|
0.00003
|
|
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter)
|
rs751361090
|
0.00003
|
|
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu)
|
rs371737956
|
0.00003
|
|
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=)
|
rs561598805
|
0.00003
|
|
NM_025114.4(CEP290):c.6090T>C (p.His2030=)
|
rs1055944923
|
0.00003
|
|
NM_025114.4(CEP290):c.6523-6T>C
|
rs794727692
|
0.00003
|
|
NM_025114.4(CEP290):c.6720A>G (p.Gln2240=)
|
rs751895513
|
0.00003
|
|
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly)
|
rs758864226
|
0.00003
|
|
NM_025114.4(CEP290):c.6820A>G (p.Met2274Val)
|
rs1326611388
|
0.00003
|
|
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)
|
rs572443869
|
0.00003
|
|
NM_025114.4(CEP290):c.7034+10G>A
|
rs1057522783
|
0.00003
|
|
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)
|
rs375548374
|
0.00003
|
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
|
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)
|
rs754462052
|
0.00003
|
|
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr)
|
rs1159836808
|
0.00003
|
|
NM_025114.4(CEP290):c.852+14T>C
|
rs571313482
|
0.00003
|
|
NM_030578.4(B9D2):c.262C>T (p.Arg88Cys)
|
rs781608263
|
0.00003
|
|
NM_030578.4(B9D2):c.263G>A (p.Arg88His)
|
rs748803301
|
0.00003
|
|
NM_030578.4(B9D2):c.374G>A (p.Arg125Gln)
|
rs1054797
|
0.00003
|
|
NM_153704.6(TMEM67):c.1177A>G (p.Ile393Val)
|
rs755280678
|
0.00003
|
|
NM_153704.6(TMEM67):c.1412+18G>T
|
rs771301847
|
0.00003
|
|
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr)
|
rs758803102
|
0.00003
|
|
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)
|
rs747025617
|
0.00003
|
|
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys)
|
rs148726767
|
0.00003
|
|
NM_153704.6(TMEM67):c.1983C>T (p.Ala661=)
|
rs1297734907
|
0.00003
|
|
NM_153704.6(TMEM67):c.2208T>C (p.Ser736=)
|
rs1436606444
|
0.00003
|
|
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)
|
rs886038738
|
0.00003
|
|
NM_153704.6(TMEM67):c.2783G>A (p.Ser928Asn)
|
rs538380011
|
0.00003
|
|
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys)
|
rs375719305
|
0.00003
|
|
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His)
|
rs191759530
|
0.00003
|
|
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly)
|
rs372886148
|
0.00003
|
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
|
NM_153704.6(TMEM67):c.652-16A>G
|
rs569346767
|
0.00003
|
|
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)
|
rs766782158
|
0.00003
|
|
NM_153704.6(TMEM67):c.978+13A>G
|
rs760659884
|
0.00003
|
|
NM_001077418.3(TMEM231):c.-17G>A
|
rs768513169
|
0.00002
|
|
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr)
|
rs1197109885
|
0.00002
|
|
NM_001077418.3(TMEM231):c.139+17C>T
|
rs759518508
|
0.00002
|
|
NM_001077418.3(TMEM231):c.140-35C>T
|
rs750621210
|
0.00002
|
|
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)
|
rs771783989
|
0.00002
|
|
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr)
|
rs753709447
|
0.00002
|
|
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
|
rs774091057
|
0.00002
|
|
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)
|
rs775968168
|
0.00002
|
|
NM_001077418.3(TMEM231):c.309+20G>T
|
rs1186787656
|
0.00002
|
|
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=)
|
rs774761408
|
0.00002
|
|
NM_001077418.3(TMEM231):c.456G>A (p.Val152=)
|
rs571562822
|
0.00002
|
|
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr)
|
rs768932063
|
0.00002
|
|
NM_001077418.3(TMEM231):c.582+9G>A
|
rs1266194059
|
0.00002
|
|
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val)
|
rs778298588
|
0.00002
|
|
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys)
|
rs374279951
|
0.00002
|
|
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr)
|
rs775383043
|
0.00002
|
|
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu)
|
rs761280513
|
0.00002
|
|
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp)
|
rs770715825
|
0.00002
|
|
NM_001082538.3(TCTN1):c.1149C>T (p.Val383=)
|
rs759588884
|
0.00002
|
|
NM_001082538.3(TCTN1):c.1167T>A (p.Ala389=)
|
rs754192411
|
0.00002
|
|
NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro)
|
rs751036661
|
0.00002
|
|
NM_001082538.3(TCTN1):c.1740T>C (p.Asn580=)
|
rs376626018
|
0.00002
|
|
NM_001082538.3(TCTN1):c.237C>G (p.Val79=)
|
rs374598052
|
0.00002
|
|
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn)
|
rs370252911
|
0.00002
|
|
NM_001082538.3(TCTN1):c.597G>T (p.Leu199=)
|
rs950880140
|
0.00002
|
|
NM_001082538.3(TCTN1):c.621T>C (p.Tyr207=)
|
rs757534239
|
0.00002
|
|
NM_001082538.3(TCTN1):c.823-3T>A
|
rs757410579
|
0.00002
|
|
NM_001082538.3(TCTN1):c.865A>G (p.Ile289Val)
|
rs1035223063
|
0.00002
|
|
NM_001082538.3(TCTN1):c.954C>T (p.Ser318=)
|
rs372535670
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1000T>C (p.Leu334=)
|
rs780534369
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter)
|
rs896947430
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1017C>T (p.Pro339=)
|
rs777522814
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1081C>T (p.Pro361Ser)
|
rs748850069
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1140G>A (p.Leu380=)
|
rs373742688
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1198C>G (p.Pro400Ala)
|
rs759074579
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1444A>G (p.Asn482Asp)
|
rs777022662
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)
|
rs368116362
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.152T>C (p.Val51Ala)
|
rs375163284
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.166C>T (p.His56Tyr)
|
rs758324715
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1701C>T (p.Tyr567=)
|
rs769840882
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)
|
rs543650388
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1809C>T (p.Pro603=)
|
rs778968413
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1820T>C (p.Ile607Thr)
|
rs771221391
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1829C>T (p.Pro610Leu)
|
rs376457814
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
|
rs1718235188
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2003+16G>A
|
rs746051826
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2025G>C (p.Glu675Asp)
|
rs756383263
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2088A>G (p.Thr696=)
|
rs760615867
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2286G>A (p.Val762=)
|
rs1204225662
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2289G>A (p.Glu763=)
|
rs769073033
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2310G>C (p.Val770=)
|
rs751676654
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2338+16A>G
|
rs777390329
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2385G>C (p.Leu795=)
|
rs754272410
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2409T>C (p.His803=)
|
rs780868022
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.245G>A (p.Arg82Gln)
|
rs527974001
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2593C>T (p.Pro865Ser)
|
rs1376846940
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2626-12C>T
|
rs571780110
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp)
|
rs541135799
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2641G>C (p.Glu881Gln)
|
rs760405029
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2736G>C (p.Arg912Ser)
|
rs1471618183
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2830-18G>A
|
rs969121617
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2842C>T (p.Arg948Trp)
|
rs563295435
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2864T>C (p.Ile955Thr)
|
rs779465688
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2904A>T (p.Val968=)
|
rs1457559560
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3014+11T>C
|
rs760477116
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3015-11G>A
|
rs757678311
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=)
|
rs377575861
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3082C>T (p.Arg1028Trp)
|
rs770004990
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3132G>A (p.Leu1044=)
|
rs929422473
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3183-17T>C
|
rs961448334
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3199T>C (p.Ser1067Pro)
|
rs781259863
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3230_3232dup (p.His1077_Ala1078insAsp)
|
rs756426571
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3256C>A (p.Pro1086Thr)
|
rs756918920
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3298C>T (p.Arg1100Cys)
|
rs767086890
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3374A>G (p.Asn1125Ser)
|
rs746358327
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
|
rs386833755
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp)
|
rs369648324
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)
|
rs1022325907
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3771+11A>C
|
rs955623216
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3773T>C (p.Phe1258Ser)
|
rs1485903880
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)
|
rs748886997
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)
|
rs745599580
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4080C>T (p.Leu1360=)
|
rs777093551
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4345C>G (p.Pro1449Ala)
|
rs375410796
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)
|
rs886940102
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4635C>A (p.Asp1545Glu)
|
rs776642347
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4724T>C (p.Ile1575Thr)
|
rs551243983
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4838T>C (p.Val1613Ala)
|
rs769264337
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4850T>C (p.Ile1617Thr)
|
rs371868705
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.566A>G (p.Glu189Gly)
|
rs762024789
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val)
|
rs1403239059
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.648G>A (p.Ala216=)
|
rs1415780433
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.778G>A (p.Val260Met)
|
rs918403472
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.823A>G (p.Ile275Val)
|
rs368471984
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.891T>C (p.Tyr297=)
|
rs797045438
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1335A>T (p.Ile445=)
|
rs778962353
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1392A>G (p.Leu464=)
|
rs773395675
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)
|
rs371028848
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)
|
rs966605945
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)
|
rs201131571
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1880A>C (p.Lys627Thr)
|
rs377035693
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1881A>G (p.Lys627=)
|
rs774731949
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1952T>C (p.Leu651Pro)
|
rs752598081
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2038C>T (p.Leu680Phe)
|
rs758370789
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=)
|
rs778885314
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)
|
rs759934290
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser)
|
rs565152814
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter)
|
rs267604575
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.231-13A>G
|
rs1030566201
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.231-15T>G
|
rs762320051
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.231-4C>A
|
rs774628905
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2629A>G (p.Ile877Val)
|
rs779895977
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)
|
rs775153934
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2677A>T (p.Ile893Phe)
|
rs748601161
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2757T>C (p.Ala919=)
|
rs758167588
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs)
|
rs778824093
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2814C>T (p.Ser938=)
|
rs192512050
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.281G>A (p.Arg94Gln)
|
rs549881475
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2850A>G (p.Ala950=)
|
rs752095514
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2875-15G>T
|
rs749908163
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2877A>G (p.Ala959=)
|
rs753020103
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2958+9T>A
|
rs920679699
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln)
|
rs146484603
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3141A>C (p.Leu1047=)
|
rs1313737236
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3206A>G (p.Asp1069Gly)
|
rs200726671
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3220+1G>A
|
rs969617857
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3274A>G (p.Ile1092Val)
|
rs1965837844
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3294+13A>G
|
rs756969381
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3335T>A (p.Ile1112Asn)
|
rs986384855
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln)
|
rs376330325
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)
|
rs778533826
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3625G>A (p.Val1209Met)
|
rs373993184
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3777C>T (p.His1259=)
|
rs750716320
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3835+3A>G
|
rs769218955
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.494A>G (p.Asn165Ser)
|
rs749282106
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.529+16C>T
|
rs765320880
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.634G>C (p.Glu212Gln)
|
rs766043636
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.654A>G (p.Gln218=)
|
rs1404574894
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.659G>A (p.Gly220Asp)
|
rs139259555
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.85G>A (p.Glu29Lys)
|
rs771740102
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.882+8G>A
|
rs773501615
|
0.00002
|
|
NM_015681.6(B9D1):c.108C>T (p.Tyr36=)
|
rs548122561
|
0.00002
|
|
NM_015681.6(B9D1):c.256G>A (p.Val86Met)
|
rs776537604
|
0.00002
|
|
NM_015681.6(B9D1):c.380C>T (p.Thr127Met)
|
rs779138882
|
0.00002
|
|
NM_015681.6(B9D1):c.427G>A (p.Glu143Lys)
|
rs1490515097
|
0.00002
|
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
|
NM_017777.4(MKS1):c.1095G>C (p.Met365Ile)
|
rs1440032995
|
0.00002
|
|
NM_017777.4(MKS1):c.1233T>C (p.Arg411=)
|
rs201128765
|
0.00002
|
|
NM_017777.4(MKS1):c.1273+12T>A
|
rs762439479
|
0.00002
|
|
NM_017777.4(MKS1):c.1284C>T (p.Thr428=)
|
rs761247194
|
0.00002
|
|
NM_017777.4(MKS1):c.1316T>C (p.Leu439Pro)
|
rs1325790652
|
0.00002
|
|
NM_017777.4(MKS1):c.1353C>T (p.Gly451=)
|
rs764549118
|
0.00002
|
|
NM_017777.4(MKS1):c.1392A>T (p.Ile464=)
|
rs1160063124
|
0.00002
|
|
NM_017777.4(MKS1):c.1477C>A (p.Leu493Met)
|
rs761944624
|
0.00002
|
|
NM_017777.4(MKS1):c.1592C>A (p.Ala531Asp)
|
rs751294519
|
0.00002
|
|
NM_017777.4(MKS1):c.1606C>T (p.Arg536Trp)
|
rs768171144
|
0.00002
|
|
NM_017777.4(MKS1):c.1613G>A (p.Arg538His)
|
rs557678962
|
0.00002
|
|
NM_017777.4(MKS1):c.1678T>C (p.Ter560Gln)
|
rs1286667377
|
0.00002
|
|
NM_017777.4(MKS1):c.190+12G>A
|
rs1310865080
|
0.00002
|
|
NM_017777.4(MKS1):c.204A>T (p.Pro68=)
|
rs557752726
|
0.00002
|
|
NM_017777.4(MKS1):c.210A>G (p.Glu70=)
|
rs778759498
|
0.00002
|
|
NM_017777.4(MKS1):c.279C>T (p.Tyr93=)
|
rs187870415
|
0.00002
|
|
NM_017777.4(MKS1):c.428G>T (p.Arg143Ile)
|
rs758424317
|
0.00002
|
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
|
NM_017777.4(MKS1):c.494G>A (p.Arg165His)
|
rs771709346
|
0.00002
|
|
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys)
|
rs559966703
|
0.00002
|
|
NM_017777.4(MKS1):c.644+9C>T
|
rs754404940
|
0.00002
|
|
NM_017777.4(MKS1):c.732C>G (p.Gly244=)
|
rs753234130
|
0.00002
|
|
NM_017777.4(MKS1):c.792G>A (p.Thr264=)
|
rs1272905094
|
0.00002
|
|
NM_017777.4(MKS1):c.79C>T (p.Arg27Ter)
|
rs1161451203
|
0.00002
|
|
NM_017777.4(MKS1):c.841C>T (p.Arg281Trp)
|
rs780007842
|
0.00002
|
|
NM_017777.4(MKS1):c.858+19C>T
|
rs367750788
|
0.00002
|
|
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)
|
rs386834053
|
0.00002
|
|
NM_017777.4(MKS1):c.993C>T (p.Tyr331=)
|
rs552668070
|
0.00002
|
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00002
|
|
NM_024809.5(TCTN2):c.1612+3A>G
|
rs918049258
|
0.00002
|
|
NM_024809.5(TCTN2):c.1612C>T (p.Arg538Cys)
|
rs561214391
|
0.00002
|
|
NM_024809.5(TCTN2):c.1794C>T (p.Tyr598=)
|
rs193008632
|
0.00002
|
|
NM_024809.5(TCTN2):c.1813G>A (p.Glu605Lys)
|
rs768079186
|
0.00002
|
|
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln)
|
rs778418417
|
0.00002
|
|
NM_024809.5(TCTN2):c.191-15G>A
|
rs780792228
|
0.00002
|
|
NM_024809.5(TCTN2):c.1967G>C (p.Trp656Ser)
|
rs200159224
|
0.00002
|
|
NM_024809.5(TCTN2):c.210G>T (p.Thr70=)
|
rs1196817536
|
0.00002
|
|
NM_024809.5(TCTN2):c.305T>C (p.Leu102Pro)
|
rs779547974
|
0.00002
|
|
NM_024809.5(TCTN2):c.349C>T (p.Pro117Ser)
|
rs148783076
|
0.00002
|
|
NM_024809.5(TCTN2):c.510T>C (p.Pro170=)
|
rs769707766
|
0.00002
|
|
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val)
|
rs768824874
|
0.00002
|
|
NM_024809.5(TCTN2):c.548G>A (p.Arg183His)
|
rs369164141
|
0.00002
|
|
NM_024809.5(TCTN2):c.642T>C (p.Pro214=)
|
rs747382089
|
0.00002
|
|
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs)
|
rs915737037
|
0.00002
|
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
|
NM_024809.5(TCTN2):c.957A>G (p.Lys319=)
|
rs1331215787
|
0.00002
|
|
NM_024809.5(TCTN2):c.978A>G (p.Leu326=)
|
rs921429450
|
0.00002
|
|
NM_025114.4(CEP290):c.1035T>C (p.Ala345=)
|
rs778053081
|
0.00002
|
|
NM_025114.4(CEP290):c.105G>A (p.Val35=)
|
rs371969282
|
0.00002
|
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
|
NM_025114.4(CEP290):c.1094A>C (p.Lys365Thr)
|
rs1250515491
|
0.00002
|
|
NM_025114.4(CEP290):c.1113A>G (p.Val371=)
|
rs370095967
|
0.00002
|
|
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
|
rs189280108
|
0.00002
|
|
NM_025114.4(CEP290):c.1288G>C (p.Ala430Pro)
|
rs767366207
|
0.00002
|
|
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile)
|
rs373303674
|
0.00002
|
|
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser)
|
rs1331263277
|
0.00002
|
|
NM_025114.4(CEP290):c.1522+17G>C
|
rs1269048571
|
0.00002
|
|
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)
|
rs752942122
|
0.00002
|
|
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile)
|
rs1000099371
|
0.00002
|
|
NM_025114.4(CEP290):c.1712-5T>C
|
rs994843668
|
0.00002
|
|
NM_025114.4(CEP290):c.1756G>A (p.Gly586Arg)
|
rs759047003
|
0.00002
|
|
NM_025114.4(CEP290):c.181-1G>A
|
rs281865190
|
0.00002
|
|
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val)
|
rs932362741
|
0.00002
|
|
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp)
|
rs372963403
|
0.00002
|
|
NM_025114.4(CEP290):c.2211T>C (p.Asn737=)
|
rs763182158
|
0.00002
|
|
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)
|
rs137852833
|
0.00002
|
|
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)
|
rs369868981
|
0.00002
|
|
NM_025114.4(CEP290):c.2373A>C (p.Leu791=)
|
rs760126835
|
0.00002
|
|
NM_025114.4(CEP290):c.2424C>T (p.Tyr808=)
|
rs911134690
|
0.00002
|
|
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu)
|
rs1468626083
|
0.00002
|
|
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp)
|
rs750466529
|
0.00002
|
|
NM_025114.4(CEP290):c.3310-9T>C
|
rs752729387
|
0.00002
|
|
NM_025114.4(CEP290):c.3402T>C (p.Asp1134=)
|
rs976423527
|
0.00002
|
|
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
|
rs774900495
|
0.00002
|
|
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg)
|
rs772550529
|
0.00002
|
|
NM_025114.4(CEP290):c.3429G>A (p.Lys1143=)
|
rs769362204
|
0.00002
|
|
NM_025114.4(CEP290):c.3498T>G (p.Val1166=)
|
rs750099379
|
0.00002
|
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
|
NM_025114.4(CEP290):c.4030-14A>G
|
rs910563325
|
0.00002
|
|
NM_025114.4(CEP290):c.4107A>G (p.Lys1369=)
|
rs1380584703
|
0.00002
|
|
NM_025114.4(CEP290):c.4123T>C (p.Leu1375=)
|
rs368322148
|
0.00002
|
|
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val)
|
rs1427374639
|
0.00002
|
|
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His)
|
rs774025278
|
0.00002
|
|
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val)
|
rs564214956
|
0.00002
|
|
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)
|
rs377614744
|
0.00002
|
|
NM_025114.4(CEP290):c.4314T>G (p.Ala1438=)
|
rs773185972
|
0.00002
|
|
NM_025114.4(CEP290):c.4391T>C (p.Ile1464Thr)
|
rs761761702
|
0.00002
|
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
|
NM_025114.4(CEP290):c.4394G>A (p.Arg1465Gln)
|
rs576877716
|
0.00002
|
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
|
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=)
|
rs778794581
|
0.00002
|
|
NM_025114.4(CEP290):c.495+17G>T
|
rs181956234
|
0.00002
|
|
NM_025114.4(CEP290):c.5013-7A>C
|
rs762217156
|
0.00002
|
|
NM_025114.4(CEP290):c.5027A>G (p.His1676Arg)
|
rs375246057
|
0.00002
|
|
NM_025114.4(CEP290):c.5112A>G (p.Leu1704=)
|
rs758459529
|
0.00002
|
|
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)
|
rs754184488
|
0.00002
|
|
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=)
|
rs747996508
|
0.00002
|
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
|
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu)
|
rs955877363
|
0.00002
|
|
NM_025114.4(CEP290):c.5379T>C (p.Asp1793=)
|
rs1031513373
|
0.00002
|
|
NM_025114.4(CEP290):c.5413C>T (p.Leu1805Phe)
|
rs1366280320
|
0.00002
|
|
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly)
|
rs1460898199
|
0.00002
|
|
NM_025114.4(CEP290):c.549C>T (p.Tyr183=)
|
rs781004914
|
0.00002
|
|
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg)
|
rs374752439
|
0.00002
|
|
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=)
|
rs1481341836
|
0.00002
|
|
NM_025114.4(CEP290):c.563A>T (p.Asp188Val)
|
rs746511786
|
0.00002
|
|
NM_025114.4(CEP290):c.5709+10G>A
|
rs1019366465
|
0.00002
|
|
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)
|
rs752046733
|
0.00002
|
|
NM_025114.4(CEP290):c.6012-12T>A
|
rs752197734
|
0.00002
|
|
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val)
|
rs376307540
|
0.00002
|
|
NM_025114.4(CEP290):c.6069A>G (p.Arg2023=)
|
rs772038500
|
0.00002
|
|
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=)
|
rs766265410
|
0.00002
|
|
NM_025114.4(CEP290):c.6135+7G>A
|
rs772383636
|
0.00002
|
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
|
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln)
|
rs773459272
|
0.00002
|
|
NM_025114.4(CEP290):c.6444T>C (p.Asn2148=)
|
rs368101871
|
0.00002
|
|
NM_025114.4(CEP290):c.6522+6_6522+7insA
|
rs748258476
|
0.00002
|
|
NM_025114.4(CEP290):c.6534A>G (p.Glu2178=)
|
rs759956779
|
0.00002
|
|
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)
|
rs769798212
|
0.00002
|
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
|
NM_025114.4(CEP290):c.6818+9A>G
|
rs748162184
|
0.00002
|
|
NM_025114.4(CEP290):c.7083G>T (p.Gln2361His)
|
rs201801456
|
0.00002
|
|
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
|
rs776216960
|
0.00002
|
|
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)
|
rs767231715
|
0.00002
|
|
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)
|
rs775189201
|
0.00002
|
|
NM_025114.4(CEP290):c.735G>A (p.Glu245=)
|
rs917730125
|
0.00002
|
|
NM_025114.4(CEP290):c.739G>A (p.Val247Ile)
|
rs1409885182
|
0.00002
|
|
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn)
|
rs796540607
|
0.00002
|
|
NM_025114.4(CEP290):c.943-18T>C
|
rs754330511
|
0.00002
|
|
NM_025114.4(CEP290):c.996T>C (p.His332=)
|
rs746022535
|
0.00002
|
|
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys)
|
rs760322583
|
0.00002
|
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
|
NM_153704.6(TMEM67):c.169A>G (p.Ile57Val)
|
rs1303516077
|
0.00002
|
|
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg)
|
rs142280651
|
0.00002
|
|
NM_153704.6(TMEM67):c.1836T>C (p.Tyr612=)
|
rs767820112
|
0.00002
|
|
NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr)
|
rs377160954
|
0.00002
|
|
NM_153704.6(TMEM67):c.1860+19G>A
|
rs373634556
|
0.00002
|
|
NM_153704.6(TMEM67):c.1927C>T (p.Arg643Ter)
|
rs115195998
|
0.00002
|
|
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln)
|
rs776677392
|
0.00002
|
|
NM_153704.6(TMEM67):c.1961-20C>A
|
rs150209047
|
0.00002
|
|
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)
|
rs149475825
|
0.00002
|
|
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala)
|
rs781383498
|
0.00002
|
|
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)
|
rs751517725
|
0.00002
|
|
NM_153704.6(TMEM67):c.2314A>G (p.Met772Val)
|
rs777291564
|
0.00002
|
|
NM_153704.6(TMEM67):c.237A>G (p.Val79=)
|
rs772881100
|
0.00002
|
|
NM_153704.6(TMEM67):c.2440-6T>C
|
rs532418578
|
0.00002
|
|
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val)
|
rs758944470
|
0.00002
|
|
NM_153704.6(TMEM67):c.312+19A>T
|
rs777205068
|
0.00002
|
|
NM_153704.6(TMEM67):c.42G>T (p.Trp14Cys)
|
rs781254251
|
0.00002
|
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
|
NM_153704.6(TMEM67):c.5C>T (p.Ala2Val)
|
rs770813739
|
0.00002
|
|
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys)
|
rs768183184
|
0.00002
|
|
NM_153704.6(TMEM67):c.64G>A (p.Val22Met)
|
rs770779757
|
0.00002
|
|
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly)
|
rs115766095
|
0.00002
|
|
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)
|
rs587779736
|
0.00002
|
|
NM_153704.6(TMEM67):c.799G>A (p.Ala267Thr)
|
rs752179627
|
0.00002
|
|
NM_153704.6(TMEM67):c.979-16C>T
|
rs757127826
|
0.00002
|
|
NC_000016.10:g.75556253G>T
|
rs1419518232
|
0.00001
|
|
NM_001077418.3(TMEM231):c.-12C>G
|
rs745498623
|
0.00001
|
|
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys)
|
rs1597051521
|
0.00001
|
|
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp)
|
rs750674092
|
0.00001
|
|
NM_001077418.3(TMEM231):c.139+23G>A
|
rs770598456
|
0.00001
|
|
NM_001077418.3(TMEM231):c.139+24C>T
|
rs746632596
|
0.00001
|
|
NM_001077418.3(TMEM231):c.139+25C>T
|
rs1474874368
|
0.00001
|
|
NM_001077418.3(TMEM231):c.139+39G>T
|
rs1448302846
|
0.00001
|
|
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=)
|
rs1444231443
|
0.00001
|
|
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg)
|
rs766492182
|
0.00001
|
|
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val)
|
rs1309156955
|
0.00001
|
|
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
|
rs759954710
|
0.00001
|
|
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg)
|
rs1255071095
|
0.00001
|
|
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
|
rs1202833405
|
0.00001
|
|
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val)
|
rs750935858
|
0.00001
|
|
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser)
|
rs566395744
|
0.00001
|
|
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)
|
rs778407563
|
0.00001
|
|
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=)
|
rs751631216
|
0.00001
|
|
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg)
|
rs763194213
|
0.00001
|
|
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=)
|
rs748111030
|
0.00001
|
|
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)
|
rs543122080
|
0.00001
|
|
NM_001077418.3(TMEM231):c.582+1G>A
|
rs752141701
|
0.00001
|
|
NM_001077418.3(TMEM231):c.583-10C>T
|
rs774265542
|
0.00001
|
|
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met)
|
rs745485432
|
0.00001
|
|
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=)
|
rs959165450
|
0.00001
|
|
NM_001077418.3(TMEM231):c.665-3C>T
|
rs780063686
|
0.00001
|
|
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile)
|
rs746055228
|
0.00001
|
|
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=)
|
rs750043051
|
0.00001
|
|
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu)
|
rs746025189
|
0.00001
|
|
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=)
|
rs746685376
|
0.00001
|
|
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu)
|
rs1230743826
|
0.00001
|
|
NM_001077418.3(TMEM231):c.770+18G>T
|
rs1413880610
|
0.00001
|
|
NM_001077418.3(TMEM231):c.771-6C>A
|
rs1160382019
|
0.00001
|
|
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val)
|
rs768632156
|
0.00001
|
|
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
|
rs759314500
|
0.00001
|
|
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln)
|
rs746970206
|
0.00001
|
|
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=)
|
rs1435643293
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1034C>T (p.Ser345Leu)
|
rs764428510
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1104+1G>C
|
rs756402483
|
0.00001
|
|
NM_001082538.3(TCTN1):c.113C>G (p.Thr38Ser)
|
rs1414721255
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1150G>A (p.Val384Met)
|
rs768050958
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1209C>T (p.Thr403=)
|
rs1195048348
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1217G>C (p.Arg406Thr)
|
rs372139162
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1287C>T (p.Thr429=)
|
rs746097128
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1309A>G (p.Met437Val)
|
rs777277575
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1332-17C>A
|
rs763909645
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1349C>T (p.Pro450Leu)
|
rs755076199
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1441G>A (p.Asp481Asn)
|
rs891438919
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1452C>T (p.Asp484=)
|
rs2067208566
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1467C>T (p.His489=)
|
rs748187759
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe)
|
rs1016934113
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1562A>T (p.Tyr521Phe)
|
rs978264567
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1627T>A (p.Phe543Ile)
|
rs928189605
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1636-3C>T
|
rs1456445051
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1636-5T>C
|
rs1250840241
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1646G>A (p.Gly549Glu)
|
rs780673992
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1656G>A (p.Arg552=)
|
rs1248295755
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1659G>A (p.Thr553=)
|
rs777278093
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1663C>T (p.Leu555Phe)
|
rs375896348
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1679T>C (p.Val560Ala)
|
rs765240282
|
0.00001
|
|
NM_001082538.3(TCTN1):c.169C>T (p.Pro57Ser)
|
rs543518078
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1749G>T (p.Leu583=)
|
rs1228988444
|
0.00001
|
|
NM_001082538.3(TCTN1):c.1773T>G (p.Phe591Leu)
|
rs201198236
|
0.00001
|
|
NM_001082538.3(TCTN1):c.219C>G (p.Asp73Glu)
|
rs748298895
|
0.00001
|
|
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg)
|
rs1565956183
|
0.00001
|
|
NM_001082538.3(TCTN1):c.233G>A (p.Cys78Tyr)
|
rs760047850
|
0.00001
|
|
NM_001082538.3(TCTN1):c.286G>A (p.Asp96Asn)
|
rs1048212721
|
0.00001
|
|
NM_001082538.3(TCTN1):c.297C>T (p.Ser99=)
|
rs199654159
|
0.00001
|
|
NM_001082538.3(TCTN1):c.341C>T (p.Thr114Met)
|
rs768244592
|
0.00001
|
|
NM_001082538.3(TCTN1):c.346G>A (p.Asp116Asn)
|
rs983420048
|
0.00001
|
|
NM_001082538.3(TCTN1):c.467C>T (p.Thr156Ile)
|
rs369542737
|
0.00001
|
|
NM_001082538.3(TCTN1):c.473-9A>T
|
rs766470328
|
0.00001
|
|
NM_001082538.3(TCTN1):c.54C>T (p.Ala18=)
|
rs758668268
|
0.00001
|
|
NM_001082538.3(TCTN1):c.57C>T (p.Ser19=)
|
rs779892252
|
0.00001
|
|
NM_001082538.3(TCTN1):c.654G>A (p.Ser218=)
|
rs776715588
|
0.00001
|
|
NM_001082538.3(TCTN1):c.666T>G (p.Phe222Leu)
|
rs2066301569
|
0.00001
|
|
NM_001082538.3(TCTN1):c.671C>T (p.Ser224Leu)
|
rs376544711
|
0.00001
|
|
NM_001082538.3(TCTN1):c.705C>T (p.Asn235=)
|
rs752181429
|
0.00001
|
|
NM_001082538.3(TCTN1):c.713-2A>G
|
rs2066444872
|
0.00001
|
|
NM_001082538.3(TCTN1):c.713C>T (p.Ala238Val)
|
rs370816745
|
0.00001
|
|
NM_001082538.3(TCTN1):c.714G>A (p.Ala238=)
|
rs200574241
|
0.00001
|
|
NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter)
|
rs748215804
|
0.00001
|
|
NM_001082538.3(TCTN1):c.823-4C>G
|
rs754017886
|
0.00001
|
|
NM_001082538.3(TCTN1):c.83C>T (p.Pro28Leu)
|
rs1305265141
|
0.00001
|
|
NM_001082538.3(TCTN1):c.846C>G (p.Val282=)
|
rs368536784
|
0.00001
|
|
NM_001082538.3(TCTN1):c.858T>G (p.Val286=)
|
rs770733945
|
0.00001
|
|
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter)
|
rs751962801
|
0.00001
|
|
NM_001082538.3(TCTN1):c.899G>A (p.Arg300Gln)
|
rs746946452
|
0.00001
|
|
NM_001082538.3(TCTN1):c.902G>A (p.Arg301Gln)
|
rs780877516
|
0.00001
|
|
NM_001082538.3(TCTN1):c.926C>T (p.Pro309Leu)
|
rs1291603381
|
0.00001
|
|
NM_001082538.3(TCTN1):c.933C>T (p.Leu311=)
|
rs748696458
|
0.00001
|
|
NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg)
|
rs762127242
|
0.00001
|
|
NM_001082538.3(TCTN1):c.978+10G>A
|
rs557580380
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1018-11T>C
|
rs200340261
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1018-12C>T
|
rs375602687
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1019A>C (p.Glu340Ala)
|
rs1450279703
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1027T>C (p.Trp343Arg)
|
rs1222588033
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1057C>T (p.Leu353=)
|
rs1365896129
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=)
|
rs886044284
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1123G>C (p.Ala375Pro)
|
rs759668652
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1150-4G>A
|
rs956757805
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1179T>G (p.His393Gln)
|
rs368203865
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1197C>A (p.Asp399Glu)
|
rs1019784141
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1209T>C (p.Asn403=)
|
rs764983506
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1222A>G (p.Ile408Val)
|
rs1196012902
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)
|
rs757208121
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1299G>A (p.Gln433=)
|
rs1717581475
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1409C>G (p.Pro470Arg)
|
rs370978967
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)
|
rs1300362447
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1483C>T (p.Arg495Cys)
|
rs754391657
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.149T>C (p.Met50Thr)
|
rs765810643
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1501A>G (p.Lys501Glu)
|
rs759556765
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1506T>C (p.Asp502=)
|
rs765072025
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1515G>A (p.Leu505=)
|
rs1188194101
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1536T>C (p.Val512=)
|
rs1182295220
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1672G>A (p.Glu558Lys)
|
rs766924214
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1677G>C (p.Leu559=)
|
rs1560170993
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)
|
rs368669579
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.177C>T (p.Asn59=)
|
rs1001847837
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1780A>G (p.Lys594Glu)
|
rs764556903
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1799A>C (p.Glu600Ala)
|
rs779393473
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1810G>A (p.Gly604Ser)
|
rs747935651
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=)
|
rs763567590
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1855C>T (p.Pro619Ser)
|
rs1427654469
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1858A>G (p.Ser620Gly)
|
rs760215716
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1863T>G (p.Pro621=)
|
rs1325653391
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1871C>T (p.Pro624Leu)
|
rs947493633
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln)
|
rs752576142
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1882G>A (p.Ala628Thr)
|
rs1229418241
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1927A>C (p.Arg643=)
|
rs1048216556
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1948C>G (p.Leu650Val)
|
rs1382964089
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1952T>A (p.Val651Asp)
|
rs762298895
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu)
|
rs759126033
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2004-17A>G
|
rs759192059
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2015C>T (p.Ser672Leu)
|
rs529497661
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2041T>A (p.Ser681Thr)
|
rs769428879
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2053A>G (p.Lys685Glu)
|
rs879877075
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2061G>A (p.Leu687=)
|
rs182372139
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2077G>A (p.Val693Met)
|
rs1402828879
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2095C>T (p.Arg699Trp)
|
rs754058720
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2103A>G (p.Leu701=)
|
rs1236071005
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His)
|
rs886059139
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu)
|
rs533830027
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2181+3A>G
|
rs1718406239
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2182G>T (p.Val728Phe)
|
rs752814776
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2184C>T (p.Val728=)
|
rs1718959533
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2206A>T (p.Ser736Cys)
|
rs1308459948
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2251A>G (p.Thr751Ala)
|
rs942868342
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2288A>C (p.Glu763Ala)
|
rs759466798
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.233G>A (p.Arg78Gln)
|
rs762718210
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2399A>G (p.Lys800Arg)
|
rs1287026947
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2400A>G (p.Lys800=)
|
rs371834330
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2404T>C (p.Ser802Pro)
|
rs1194338259
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2417C>T (p.Ala806Val)
|
rs769808709
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2436C>T (p.Asn812=)
|
rs200973968
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.247+8C>T
|
rs1279815589
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.248-15G>A
|
rs756298299
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2486+18T>C
|
rs1395000705
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2486+1G>C
|
rs386833747
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2486+8A>G
|
rs749186859
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)
|
rs765820512
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=)
|
rs886059158
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2534T>C (p.Leu845Pro)
|
rs1481526699
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2580C>T (p.Leu860=)
|
rs955087884
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2605C>A (p.Pro869Thr)
|
rs772863864
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=)
|
rs765873247
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2652C>G (p.Val884=)
|
rs944541785
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2715A>C (p.Leu905Phe)
|
rs1394929452
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.275G>A (p.Arg92Lys)
|
rs1342506197
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter)
|
rs386833748
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2780A>C (p.Tyr927Ser)
|
rs915290953
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.279A>G (p.Thr93=)
|
rs987594766
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.280G>C (p.Gly94Arg)
|
rs1435144536
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2829+20G>A
|
rs751376075
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2829+9C>T
|
rs1009676697
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2891A>G (p.His964Arg)
|
rs1273769297
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2902G>A (p.Val968Ile)
|
rs1369320518
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2918A>T (p.Gln973Leu)
|
rs1321218611
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2923-9T>C
|
rs753188706
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2994A>G (p.Glu998=)
|
rs1044670589
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3008A>G (p.Asn1003Ser)
|
rs376663620
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3015-9A>C
|
rs1010285962
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.305G>A (p.Gly102Glu)
|
rs373765548
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=)
|
rs886044669
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3076A>G (p.Lys1026Glu)
|
rs759702917
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.307C>T (p.Arg103Cys)
|
rs367699902
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3114T>C (p.Asp1038=)
|
rs781371086
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3115G>A (p.Gly1039Arg)
|
rs1358156436
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3126G>A (p.Lys1042=)
|
rs767804652
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)
|
rs863225173
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3144G>A (p.Val1048=)
|
rs1185288924
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3146G>A (p.Arg1049Gln)
|
rs1192970855
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3154G>A (p.Asp1052Asn)
|
rs1055487228
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3174G>A (p.Pro1058=)
|
rs769474903
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3183-5C>T
|
rs763724257
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3197C>T (p.Pro1066Leu)
|
rs556931817
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3198G>A (p.Pro1066=)
|
rs970431525
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu)
|
rs886059181
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3249G>A (p.Thr1083=)
|
rs200431110
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3263A>C (p.His1088Pro)
|
rs1295889715
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3289-11_3289-10del
|
rs770737692
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.333G>A (p.Ala111=)
|
rs200273579
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3348G>A (p.Thr1116=)
|
rs758507321
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.337-13T>C
|
rs754124890
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3376G>A (p.Glu1126Lys)
|
rs1473532901
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3398+7A>G
|
rs772784324
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3401C>T (p.Ala1134Val)
|
rs375903728
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3414T>C (p.Asp1138=)
|
rs780482620
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3417T>C (p.Tyr1139=)
|
rs749549856
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3424G>C (p.Ala1142Pro)
|
rs1277091809
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr)
|
rs1410133502
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3495G>A (p.Glu1165=)
|
rs374241960
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys)
|
rs371561652
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3533T>C (p.Ile1178Thr)
|
rs376674451
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3580T>C (p.Tyr1194His)
|
rs756905415
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3594+5G>A
|
rs863225181
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3595-11T>A
|
rs1476484459
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3610A>C (p.Lys1204Gln)
|
rs1409153766
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3671G>A (p.Arg1224Gln)
|
rs892274416
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3712A>G (p.Ile1238Val)
|
rs964134322
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter)
|
rs1271825377
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3772-5_3772-4del
|
rs1484994421
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.383C>T (p.Pro128Leu)
|
rs768439693
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3851G>A (p.Arg1284His)
|
rs754586025
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.39+13_39+15dup
|
rs1714188068
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.39+7G>A
|
rs1389256356
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.39+8G>A
|
rs768894327
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3988C>T (p.Arg1330Ter)
|
rs758036385
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3996G>A (p.Val1332=)
|
rs751553707
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4048C>T (p.Leu1350Phe)
|
rs780313255
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4055G>A (p.Ser1352Asn)
|
rs749491270
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4065+9T>C
|
rs748709735
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4066-7T>C
|
rs778478305
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4155G>A (p.Leu1385=)
|
rs371862849
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4178A>C (p.Glu1393Ala)
|
rs1258451179
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4180-5T>C
|
rs766234817
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4197G>A (p.Val1399=)
|
rs897543991
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4200A>G (p.Leu1400=)
|
rs1720998446
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4209G>T (p.Glu1403Asp)
|
rs751624828
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4217G>A (p.Arg1406His)
|
rs369001837
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.42G>A (p.Glu14=)
|
rs1455738671
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4315-8T>C
|
rs370982819
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4326T>C (p.Asn1442=)
|
rs780298185
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.438+1G>A
|
rs1453265480
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.438+9T>C
|
rs775606863
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.439-5T>A
|
rs369244755
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4396T>G (p.Phe1466Val)
|
rs1170583979
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4400C>T (p.Ser1467Leu)
|
rs1041487733
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4438-4A>G
|
rs1463104948
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4460dup (p.Ser1488fs)
|
rs1560199860
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4467C>T (p.Asp1489=)
|
rs1229562320
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4496+12T>G
|
rs754326845
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4496+2T>C
|
rs386833762
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4526T>C (p.Met1509Thr)
|
rs760863691
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser)
|
rs780673487
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4551T>C (p.Thr1517=)
|
rs756862259
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4599G>A (p.Leu1533=)
|
rs556117615
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)
|
rs778858648
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4640G>A (p.Arg1547Lys)
|
rs760048536
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4674+13T>C
|
rs1216887028
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4674+3A>T
|
rs754534791
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4675-12T>G
|
rs769761582
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4675-14T>A
|
rs766203266
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4675-1G>C
|
rs764806176
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4680T>C (p.Ser1560=)
|
rs752706778
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4697T>C (p.Met1566Thr)
|
rs762773515
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4747G>A (p.Val1583Ile)
|
rs371196379
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4759G>T (p.Asp1587Tyr)
|
rs1378734767
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4763T>C (p.Val1588Ala)
|
rs572716623
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4862A>G (p.Ter1621=)
|
rs761690020
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)
|
rs386833763
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.541-6C>T
|
rs757151024
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.55G>C (p.Asp19His)
|
rs755345164
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.576T>C (p.Tyr192=)
|
rs536646769
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.579C>G (p.Asn193Lys)
|
rs761117385
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.590T>C (p.Phe197Ser)
|
rs200761243
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.634G>C (p.Ala212Pro)
|
rs965986708
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.695C>A (p.Ala232Glu)
|
rs779245267
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.707G>A (p.Gly236Glu)
|
rs773437112
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter)
|
rs761213221
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.717+8A>G
|
rs1716564777
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.779T>C (p.Val260Ala)
|
rs1440700780
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.787G>A (p.Asp263Asn)
|
rs747042723
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.7C>A (p.Pro3Thr)
|
rs745734694
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.832C>A (p.Arg278=)
|
rs372873919
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.833G>A (p.Arg278Gln)
|
rs775794635
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.857T>C (p.Leu286Pro)
|
rs776020343
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.880+7G>A
|
rs1445614932
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter)
|
rs1158349299
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.930A>G (p.Glu310=)
|
rs1256968285
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.958C>T (p.Pro320Ser)
|
rs374098727
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.964G>A (p.Val322Met)
|
rs1010349592
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.969A>G (p.Ala323=)
|
rs763921042
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)
|
rs113371687
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.977A>G (p.Asn326Ser)
|
rs1425158863
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.97G>A (p.Val33Ile)
|
rs745409806
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1000A>G (p.Met334Val)
|
rs1182455258
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe)
|
rs747867189
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.101G>A (p.Arg34Gln)
|
rs761513762
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1029+8C>T
|
rs367844249
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1030-8C>T
|
rs907172288
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1030-9T>C
|
rs779543814
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln)
|
rs758759988
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.106A>G (p.Met36Val)
|
rs867836079
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1092A>G (p.Lys364=)
|
rs766514324
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1095T>C (p.Leu365=)
|
rs201763037
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1103+5A>G
|
rs773167560
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1128G>A (p.Glu376=)
|
rs779375492
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1150C>G (p.Gln384Glu)
|
rs1968112121
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1155G>C (p.Leu385=)
|
rs536376284
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.116G>A (p.Arg39His)
|
rs886042345
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1176C>T (p.Leu392=)
|
rs759115653
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1190A>C (p.Lys397Thr)
|
rs571212511
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1203A>G (p.Thr401=)
|
rs1158246946
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.122C>T (p.Ala41Val)
|
rs1365531088
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1257A>T (p.Lys419Asn)
|
rs976533506
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu)
|
rs770032567
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1311A>G (p.Gln437=)
|
rs1033613104
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn)
|
rs777834264
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1330C>T (p.Arg444Cys)
|
rs1296403401
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1338A>G (p.Lys446=)
|
rs754700219
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1351-11A>G
|
rs750076702
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1376T>G (p.Leu459Trp)
|
rs1430832205
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1402-13T>G
|
rs940616503
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp)
|
rs377512064
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.147A>G (p.Glu49=)
|
rs748560707
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1483A>G (p.Met495Val)
|
rs781046784
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter)
|
rs756821449
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.149del (p.Leu50fs)
|
rs1200063571
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly)
|
rs371841392
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1581+10T>C
|
rs775724713
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1582-7T>G
|
rs887053497
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1610T>C (p.Met537Thr)
|
rs752785301
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe)
|
rs147331527
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1645G>T (p.Glu549Ter)
|
rs1676833644
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg)
|
rs772900011
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn)
|
rs145516192
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys)
|
rs755258407
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)
|
rs781713688
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1700-1G>A
|
rs1057520790
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1700-7C>T
|
rs1211017142
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1700C>T (p.Ala567Val)
|
rs553739434
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1748C>G (p.Pro583Arg)
|
rs548348340
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1755C>A (p.Ile585=)
|
rs767506927
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)
|
rs775017742
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp)
|
rs537925312
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=)
|
rs375766769
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=)
|
rs779429646
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1840G>C (p.Val614Leu)
|
rs750811808
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1863A>G (p.Leu621=)
|
rs765009772
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro)
|
rs776297522
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1895T>G (p.Phe632Cys)
|
rs1381232476
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1902C>T (p.Thr634=)
|
rs138097384
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1905T>G (p.Tyr635Ter)
|
rs1353551542
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1936C>T (p.Pro646Ser)
|
rs1442222835
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=)
|
rs532450170
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter)
|
rs751477523
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1950C>T (p.Gly650=)
|
rs371258046
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)
|
rs550006406
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp)
|
rs201737322
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1990C>G (p.His664Asp)
|
rs763167296
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile)
|
rs532768944
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys)
|
rs775007896
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2078T>C (p.Ile693Thr)
|
rs766197081
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)
|
rs201081228
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2096A>G (p.Lys699Arg)
|
rs764289143
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2120G>T (p.Ser707Ile)
|
rs151281974
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2121C>T (p.Ser707=)
|
rs771201854
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2153-6T>C
|
rs371576599
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln)
|
rs117364872
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)
|
rs768672275
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2299C>T (p.Gln767Ter)
|
rs1326042797
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.230+1G>A
|
rs786204135
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)
|
rs1338012833
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2304+1G>T
|
rs746451396
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2316A>G (p.Gln772=)
|
rs1013531093
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)
|
rs771545136
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2337C>T (p.Leu779=)
|
rs1966519480
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.235G>A (p.Ala79Thr)
|
rs763182141
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2364C>T (p.Asn788=)
|
rs746197640
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.240C>G (p.Thr80=)
|
rs368894452
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=)
|
rs794727193
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=)
|
rs770299101
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2454G>A (p.Lys818=)
|
rs747445819
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2468_2477del (p.Ala823fs)
|
rs771129715
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg)
|
rs752772082
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2476G>A (p.Asp826Asn)
|
rs746015353
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2519A>G (p.Asp840Gly)
|
rs949487941
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg)
|
rs766357656
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2535A>G (p.Pro845=)
|
rs1357658306
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2571G>C (p.Lys857Asn)
|
rs149833407
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys)
|
rs768030202
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2582dup (p.Ser862fs)
|
rs779776673
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2583G>T (p.Leu861=)
|
rs566547156
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2586T>C (p.Ser862=)
|
rs771569223
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His)
|
rs1480250597
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2613C>A (p.Thr871=)
|
rs748285506
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2640C>T (p.Val880=)
|
rs767271797
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2649T>C (p.Pro883=)
|
rs1417235196
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2666A>G (p.His889Arg)
|
rs1228542037
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2672G>A (p.Arg891Lys)
|
rs200531735
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2684-7T>C
|
rs745815763
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2694G>A (p.Glu898=)
|
rs774787183
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2700A>G (p.Thr900=)
|
rs768724944
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2709A>G (p.Gln903=)
|
rs1412609114
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2723G>A (p.Gly908Asp)
|
rs1478290807
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2789A>C (p.Glu930Ala)
|
rs374694596
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2817A>G (p.Glu939=)
|
rs1966207157
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=)
|
rs754686404
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=)
|
rs556719572
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2875-17T>G
|
rs755648829
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2875-7G>A
|
rs778196818
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2878C>T (p.Pro960Ser)
|
rs1187280209
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.291C>T (p.Gly97=)
|
rs765369037
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2931C>T (p.Phe977=)
|
rs761869488
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2946A>G (p.Pro982=)
|
rs1254751869
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.297C>T (p.Pro99=)
|
rs771166557
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=)
|
rs1165700039
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3051T>C (p.His1017=)
|
rs762829599
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3089T>C (p.Val1030Ala)
|
rs1965937862
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3099T>C (p.Asn1033=)
|
rs1309372176
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)
|
rs780672507
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.310C>T (p.Arg104Ter)
|
rs547189939
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
|
rs1456208953
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3132G>A (p.Val1044=)
|
rs201711256
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.316G>A (p.Val106Met)
|
rs1970438037
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3210G>A (p.Leu1070=)
|
rs375177321
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3220+17A>C
|
rs1204073957
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3221-2A>G
|
rs200448428
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3255C>A (p.Asp1085Glu)
|
rs1965840419
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3263T>G (p.Ile1088Ser)
|
rs1185071339
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3271C>A (p.Pro1091Thr)
|
rs1436900505
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3295-9T>G
|
rs1406378943
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr)
|
rs539084201
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3330C>T (p.Ser1110=)
|
rs1304423187
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3333G>A (p.Ala1111=)
|
rs1017593402
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3356G>A (p.Arg1119His)
|
rs1207253947
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3432+6T>G
|
rs543688285
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)
|
rs886038619
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3475A>G (p.Asn1159Asp)
|
rs774549370
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3491C>T (p.Thr1164Ile)
|
rs745796721
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn)
|
rs746806282
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3516G>A (p.Leu1172=)
|
rs1388851938
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3530G>A (p.Arg1177Gln)
|
rs754491479
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)
|
rs905516252
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3545C>T (p.Pro1182Leu)
|
rs1446510817
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=)
|
rs1253988919
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3611G>A (p.Ser1204Asn)
|
rs746750855
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3616+9G>T
|
rs934455196
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3617-10T>C
|
rs766297944
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3617-2A>G
|
rs781683750
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3617-3T>C
|
rs1964004072
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3670A>G (p.Ile1224Val)
|
rs778319575
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3673C>T (p.Leu1225=)
|
rs1189160289
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3701+12C>A
|
rs931566897
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3701+3A>G
|
rs188594966
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3701+4T>C
|
rs767564258
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3714C>T (p.Thr1238=)
|
rs538306358
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=)
|
rs1239622461
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3764T>C (p.Ile1255Thr)
|
rs749664648
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3768C>T (p.Gly1256=)
|
rs780364836
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile)
|
rs781401167
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3783C>T (p.Asp1261=)
|
rs1245403227
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr)
|
rs764832127
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3819T>G (p.Ile1273Met)
|
rs1244061656
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3828T>C (p.Asn1276=)
|
rs1432386308
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3831C>T (p.Ile1277=)
|
rs760294595
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3836-15C>A
|
rs777880156
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3836-20T>C
|
rs1399609128
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=)
|
rs201132156
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.386T>A (p.Leu129His)
|
rs927281262
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.387C>T (p.Leu129=)
|
rs752951179
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.393C>T (p.Asn131=)
|
rs759792690
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.446C>T (p.Pro149Leu)
|
rs1406955571
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.480G>A (p.Gly160=)
|
rs766853230
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.489A>G (p.Lys163=)
|
rs1352245119
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.48T>C (p.Asp16=)
|
rs1046124483
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.510A>G (p.Leu170=)
|
rs750991343
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.582A>G (p.Thr194=)
|
rs924608253
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp)
|
rs769611947
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.632+9T>C
|
rs1970128165
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.639C>T (p.Asn213=)
|
rs376808910
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.63C>G (p.Leu21=)
|
rs200723710
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.642T>G (p.Val214=)
|
rs1970032678
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.643A>G (p.Ile215Val)
|
rs930198445
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.672G>A (p.Glu224=)
|
rs1253337508
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=)
|
rs1266143274
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.711G>A (p.Arg237=)
|
rs371710677
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)
|
rs990678342
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.728T>C (p.Ile243Thr)
|
rs766117001
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His)
|
rs1970020650
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.776+1G>A
|
rs771226563
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.777-4G>A
|
rs374490708
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.78G>A (p.Gly26=)
|
rs1276297529
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.867T>C (p.Phe289=)
|
rs1178591734
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.882+12A>G
|
rs1264347960
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.909C>T (p.His303=)
|
rs1313242175
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.936A>G (p.Glu312=)
|
rs1454166907
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.99A>C (p.Thr33=)
|
rs768545485
|
0.00001
|
|
NM_015681.6(B9D1):c.143A>G (p.Glu48Gly)
|
rs773267624
|
0.00001
|
|
NM_015681.6(B9D1):c.241G>A (p.Gly81Ser)
|
rs766798349
|
0.00001
|
|
NM_015681.6(B9D1):c.253A>T (p.Ile85Phe)
|
rs769608300
|
0.00001
|
|
NM_015681.6(B9D1):c.281T>C (p.Val94Ala)
|
rs1315959511
|
0.00001
|
|
NM_015681.6(B9D1):c.28C>G (p.Leu10Val)
|
rs1046425051
|
0.00001
|
|
NM_015681.6(B9D1):c.315C>T (p.Ala105=)
|
rs776662206
|
0.00001
|
|
NM_015681.6(B9D1):c.316G>A (p.Val106Met)
|
rs770853834
|
0.00001
|
|
NM_015681.6(B9D1):c.321C>T (p.His107=)
|
rs377672945
|
0.00001
|
|
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)
|
rs778260923
|
0.00001
|
|
NM_015681.6(B9D1):c.342-12C>T
|
rs1365103687
|
0.00001
|
|
NM_015681.6(B9D1):c.362T>C (p.Met121Thr)
|
rs1177935761
|
0.00001
|
|
NM_015681.6(B9D1):c.404+5G>C
|
rs767244331
|
0.00001
|
|
NM_015681.6(B9D1):c.434C>T (p.Thr145Ile)
|
rs765607415
|
0.00001
|
|
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln)
|
rs886038205
|
0.00001
|
|
NM_015681.6(B9D1):c.472+16C>G
|
rs375227607
|
0.00001
|
|
NM_015681.6(B9D1):c.534G>A (p.Met178Ile)
|
rs939940954
|
0.00001
|
|
NM_015681.6(B9D1):c.551A>T (p.Asp184Val)
|
rs1441010335
|
0.00001
|
|
NM_015681.6(B9D1):c.577G>A (p.Val193Met)
|
rs530321513
|
0.00001
|
|
NM_015681.6(B9D1):c.64-4T>C
|
rs749948329
|
0.00001
|
|
NM_015681.6(B9D1):c.99C>T (p.Cys33=)
|
rs1910884202
|
0.00001
|
|
NM_017777.4(MKS1):c.101C>T (p.Thr34Ile)
|
rs759465861
|
0.00001
|
|
NM_017777.4(MKS1):c.102A>G (p.Thr34=)
|
rs886053171
|
0.00001
|
|
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)
|
rs760971749
|
0.00001
|
|
NM_017777.4(MKS1):c.1055C>T (p.Ser352Leu)
|
rs1293609717
|
0.00001
|
|
NM_017777.4(MKS1):c.1074C>T (p.Cys358=)
|
rs1411471923
|
0.00001
|
|
NM_017777.4(MKS1):c.1086C>T (p.Ser362=)
|
rs748800331
|
0.00001
|
|
NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro)
|
rs769389013
|
0.00001
|
|
NM_017777.4(MKS1):c.1095+13A>T
|
rs970409292
|
0.00001
|
|
NM_017777.4(MKS1):c.1095+19G>A
|
rs200731008
|
0.00001
|
|
NM_017777.4(MKS1):c.1095+1G>A
|
rs747740477
|
0.00001
|
|
NM_017777.4(MKS1):c.1095+20G>C
|
rs927474862
|
0.00001
|
|
NM_017777.4(MKS1):c.1096-10C>T
|
rs766137727
|
0.00001
|
|
NM_017777.4(MKS1):c.1096-1G>C
|
rs1401015954
|
0.00001
|
|
NM_017777.4(MKS1):c.1127C>T (p.Thr376Met)
|
rs200350173
|
0.00001
|
|
NM_017777.4(MKS1):c.114T>C (p.Phe38=)
|
rs375861391
|
0.00001
|
|
NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter)
|
rs1968640181
|
0.00001
|
|
NM_017777.4(MKS1):c.1205T>C (p.Leu402Pro)
|
rs1295464168
|
0.00001
|
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
|
NM_017777.4(MKS1):c.1209G>A (p.Ser403=)
|
rs770493819
|
0.00001
|
|
NM_017777.4(MKS1):c.1219T>C (p.Trp407Arg)
|
rs1468389010
|
0.00001
|
|
NM_017777.4(MKS1):c.1227G>A (p.Arg409=)
|
rs755065589
|
0.00001
|
|
NM_017777.4(MKS1):c.1274-6G>T
|
rs1247721124
|
0.00001
|
|
NM_017777.4(MKS1):c.1279C>T (p.His427Tyr)
|
rs141741656
|
0.00001
|
|
NM_017777.4(MKS1):c.1299G>A (p.Thr433=)
|
rs749503564
|
0.00001
|
|
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly)
|
rs754930606
|
0.00001
|
|
NM_017777.4(MKS1):c.1359T>G (p.Ser453=)
|
rs1284188693
|
0.00001
|
|
NM_017777.4(MKS1):c.1383T>C (p.Tyr461=)
|
rs774475723
|
0.00001
|
|
NM_017777.4(MKS1):c.1408-10C>G
|
rs1440068430
|
0.00001
|
|
NM_017777.4(MKS1):c.1408-36G>A
|
rs755493387
|
0.00001
|
|
NM_017777.4(MKS1):c.1408-5C>T
|
rs1237002420
|
0.00001
|
|
NM_017777.4(MKS1):c.1416C>T (p.Arg472=)
|
rs1421301211
|
0.00001
|
|
NM_017777.4(MKS1):c.1424G>A (p.Arg475His)
|
rs200026560
|
0.00001
|
|
NM_017777.4(MKS1):c.1466G>A (p.Arg489His)
|
rs916562674
|
0.00001
|
|
NM_017777.4(MKS1):c.1479G>A (p.Leu493=)
|
rs376833168
|
0.00001
|
|
NM_017777.4(MKS1):c.1490+13G>A
|
rs1261119858
|
0.00001
|
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
|
NM_017777.4(MKS1):c.1525A>G (p.Met509Val)
|
rs778890248
|
0.00001
|
|
NM_017777.4(MKS1):c.1529G>A (p.Arg510Gln)
|
rs373843986
|
0.00001
|
|
NM_017777.4(MKS1):c.1589-12C>T
|
rs377376912
|
0.00001
|
|
NM_017777.4(MKS1):c.1589-3C>T
|
rs752901746
|
0.00001
|
|
NM_017777.4(MKS1):c.1589-7C>T
|
rs756418206
|
0.00001
|
|
NM_017777.4(MKS1):c.1590G>T (p.Glu530Asp)
|
rs767250536
|
0.00001
|
|
NM_017777.4(MKS1):c.1627C>T (p.Arg543Trp)
|
rs748406509
|
0.00001
|
|
NM_017777.4(MKS1):c.1629G>A (p.Arg543=)
|
rs781530535
|
0.00001
|
|
NM_017777.4(MKS1):c.1641G>A (p.Pro547=)
|
rs758334200
|
0.00001
|
|
NM_017777.4(MKS1):c.1657C>T (p.Pro553Ser)
|
rs915370426
|
0.00001
|
|
NM_017777.4(MKS1):c.1668C>T (p.Thr556=)
|
rs553314050
|
0.00001
|
|
NM_017777.4(MKS1):c.1674C>T (p.Val558=)
|
rs376925280
|
0.00001
|
|
NM_017777.4(MKS1):c.180G>A (p.Gln60=)
|
rs1008086525
|
0.00001
|
|
NM_017777.4(MKS1):c.191-1G>A
|
rs201362733
|
0.00001
|
|
NM_017777.4(MKS1):c.200G>A (p.Arg67His)
|
rs780293222
|
0.00001
|
|
NM_017777.4(MKS1):c.227T>C (p.Ile76Thr)
|
rs1412560835
|
0.00001
|
|
NM_017777.4(MKS1):c.243G>A (p.Gln81=)
|
rs1488924614
|
0.00001
|
|
NM_017777.4(MKS1):c.262-10G>T
|
rs772852025
|
0.00001
|
|
NM_017777.4(MKS1):c.268G>A (p.Val90Ile)
|
rs1235520151
|
0.00001
|
|
NM_017777.4(MKS1):c.308T>C (p.Leu103Ser)
|
rs201574278
|
0.00001
|
|
NM_017777.4(MKS1):c.30C>A (p.Thr10=)
|
rs576239597
|
0.00001
|
|
NM_017777.4(MKS1):c.313T>C (p.Tyr105His)
|
rs778921113
|
0.00001
|
|
NM_017777.4(MKS1):c.331A>C (p.Ile111Leu)
|
rs886044605
|
0.00001
|
|
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)
|
rs762482919
|
0.00001
|
|
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)
|
rs990955357
|
0.00001
|
|
NM_017777.4(MKS1):c.371G>A (p.Arg124Gln)
|
rs765026950
|
0.00001
|
|
NM_017777.4(MKS1):c.399A>G (p.Arg133=)
|
rs746378310
|
0.00001
|
|
NM_017777.4(MKS1):c.440C>T (p.Ala147Val)
|
rs1376838481
|
0.00001
|
|
NM_017777.4(MKS1):c.447C>T (p.Ser149=)
|
rs750376903
|
0.00001
|
|
NM_017777.4(MKS1):c.452T>C (p.Val151Ala)
|
rs778584579
|
0.00001
|
|
NM_017777.4(MKS1):c.46C>T (p.Arg16Cys)
|
rs1011348762
|
0.00001
|
|
NM_017777.4(MKS1):c.470A>G (p.Glu157Gly)
|
rs766648988
|
0.00001
|
|
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)
|
rs386834050
|
0.00001
|
|
NM_017777.4(MKS1):c.497G>A (p.Arg166Gln)
|
rs1050543850
|
0.00001
|
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
|
NM_017777.4(MKS1):c.509G>A (p.Arg170Gln)
|
rs369388608
|
0.00001
|
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
|
NM_017777.4(MKS1):c.515+9G>A
|
rs752279060
|
0.00001
|
|
NM_017777.4(MKS1):c.516-5C>T
|
rs1223795320
|
0.00001
|
|
NM_017777.4(MKS1):c.516-7C>A
|
rs755511133
|
0.00001
|
|
NM_017777.4(MKS1):c.51C>T (p.Ser17=)
|
rs1348163172
|
0.00001
|
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
|
NM_017777.4(MKS1):c.522C>T (p.Gly174=)
|
rs780657802
|
0.00001
|
|
NM_017777.4(MKS1):c.523G>A (p.Gly175Ser)
|
rs754601373
|
0.00001
|
|
NM_017777.4(MKS1):c.524G>T (p.Gly175Val)
|
rs527350238
|
0.00001
|
|
NM_017777.4(MKS1):c.548C>G (p.Thr183Ser)
|
rs775805558
|
0.00001
|
|
NM_017777.4(MKS1):c.580A>G (p.Asn194Asp)
|
rs759802849
|
0.00001
|
|
NM_017777.4(MKS1):c.586G>A (p.Val196Ile)
|
rs140677541
|
0.00001
|
|
NM_017777.4(MKS1):c.628C>T (p.Leu210=)
|
rs1451406283
|
0.00001
|
|
NM_017777.4(MKS1):c.634C>A (p.Pro212Thr)
|
rs747659750
|
0.00001
|
|
NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys)
|
rs754689401
|
0.00001
|
|
NM_017777.4(MKS1):c.639T>C (p.Tyr213=)
|
rs746647549
|
0.00001
|
|
NM_017777.4(MKS1):c.64C>A (p.Arg22Ser)
|
rs1031187314
|
0.00001
|
|
NM_017777.4(MKS1):c.672C>T (p.Val224=)
|
rs200531517
|
0.00001
|
|
NM_017777.4(MKS1):c.687G>A (p.Lys229=)
|
rs1309433422
|
0.00001
|
|
NM_017777.4(MKS1):c.713T>G (p.Val238Gly)
|
rs376785849
|
0.00001
|
|
NM_017777.4(MKS1):c.728C>T (p.Thr243Met)
|
rs749668169
|
0.00001
|
|
NM_017777.4(MKS1):c.791C>T (p.Thr264Met)
|
rs561482424
|
0.00001
|
|
NM_017777.4(MKS1):c.80+18G>A
|
rs775676586
|
0.00001
|
|
NM_017777.4(MKS1):c.81-1G>A
|
rs12942386
|
0.00001
|
|
NM_017777.4(MKS1):c.836G>A (p.Arg279Gln)
|
rs747504986
|
0.00001
|
|
NM_017777.4(MKS1):c.840A>C (p.Glu280Asp)
|
rs1406421081
|
0.00001
|
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
|
NM_017777.4(MKS1):c.854A>G (p.Lys285Arg)
|
rs1350256761
|
0.00001
|
|
NM_017777.4(MKS1):c.856_857del (p.Asp286fs)
|
rs1968963177
|
0.00001
|
|
NM_017777.4(MKS1):c.870G>A (p.Arg290=)
|
rs769489826
|
0.00001
|
|
NM_017777.4(MKS1):c.873C>G (p.His291Gln)
|
rs1968929550
|
0.00001
|
|
NM_017777.4(MKS1):c.896T>C (p.Val299Ala)
|
rs765793774
|
0.00001
|
|
NM_017777.4(MKS1):c.909T>C (p.Phe303=)
|
rs764581050
|
0.00001
|
|
NM_017777.4(MKS1):c.916-10T>C
|
rs750119538
|
0.00001
|
|
NM_017777.4(MKS1):c.957C>T (p.Val319=)
|
rs770067106
|
0.00001
|
|
NM_017777.4(MKS1):c.958+7G>C
|
rs1185269829
|
0.00001
|
|
NM_017777.4(MKS1):c.959-5C>T
|
rs765242131
|
0.00001
|
|
NM_017777.4(MKS1):c.959-7C>T
|
rs773337994
|
0.00001
|
|
NM_017777.4(MKS1):c.959-8T>G
|
rs763444295
|
0.00001
|
|
NM_017777.4(MKS1):c.978G>A (p.Glu326=)
|
rs1246215697
|
0.00001
|
|
NM_024809.5(TCTN2):c.1060G>A (p.Glu354Lys)
|
rs953263200
|
0.00001
|
|
NM_024809.5(TCTN2):c.1099+10G>A
|
rs751385319
|
0.00001
|
|
NM_024809.5(TCTN2):c.113G>A (p.Gly38Asp)
|
rs765101825
|
0.00001
|
|
NM_024809.5(TCTN2):c.1180A>T (p.Ile394Phe)
|
rs774166162
|
0.00001
|
|
NM_024809.5(TCTN2):c.1235-20T>A
|
rs773929370
|
0.00001
|
|
NM_024809.5(TCTN2):c.1236G>T (p.Gly412=)
|
rs376630400
|
0.00001
|
|
NM_024809.5(TCTN2):c.1321C>T (p.Leu441Phe)
|
rs752861868
|
0.00001
|
|
NM_024809.5(TCTN2):c.1336C>T (p.Arg446Ter)
|
rs757485757
|
0.00001
|
|
NM_024809.5(TCTN2):c.1370C>T (p.Thr457Met)
|
rs202078439
|
0.00001
|
|
NM_024809.5(TCTN2):c.1393+19T>C
|
rs1434022811
|
0.00001
|
|
NM_024809.5(TCTN2):c.1430C>T (p.Pro477Leu)
|
rs749989620
|
0.00001
|
|
NM_024809.5(TCTN2):c.1462T>A (p.Cys488Ser)
|
rs765771036
|
0.00001
|
|
NM_024809.5(TCTN2):c.1476C>T (p.Val492=)
|
rs755762894
|
0.00001
|
|
NM_024809.5(TCTN2):c.1477G>A (p.Gly493Arg)
|
rs375717971
|
0.00001
|
|
NM_024809.5(TCTN2):c.1497T>C (p.Thr499=)
|
rs915966685
|
0.00001
|
|
NM_024809.5(TCTN2):c.1505+12A>G
|
rs1179038667
|
0.00001
|
|
NM_024809.5(TCTN2):c.1612+13C>T
|
rs372353543
|
0.00001
|
|
NM_024809.5(TCTN2):c.1613-16C>T
|
rs777663928
|
0.00001
|
|
NM_024809.5(TCTN2):c.1626del (p.Asp543fs)
|
rs863225220
|
0.00001
|
|
NM_024809.5(TCTN2):c.1651A>G (p.Ser551Gly)
|
rs774515451
|
0.00001
|
|
NM_024809.5(TCTN2):c.1663G>A (p.Gly555Ser)
|
rs776273224
|
0.00001
|
|
NM_024809.5(TCTN2):c.1689C>T (p.His563=)
|
rs763961375
|
0.00001
|
|
NM_024809.5(TCTN2):c.1700G>A (p.Arg567His)
|
rs780065531
|
0.00001
|
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
0.00001
|
|
NM_024809.5(TCTN2):c.17C>T (p.Pro6Leu)
|
rs1362649464
|
0.00001
|
|
NM_024809.5(TCTN2):c.1824C>T (p.Ala608=)
|
rs747771800
|
0.00001
|
|
NM_024809.5(TCTN2):c.1829T>C (p.Leu610Pro)
|
rs554338311
|
0.00001
|
|
NM_024809.5(TCTN2):c.1849G>A (p.Val617Ile)
|
rs376095561
|
0.00001
|
|
NM_024809.5(TCTN2):c.184G>C (p.Glu62Gln)
|
rs774994149
|
0.00001
|
|
NM_024809.5(TCTN2):c.185A>C (p.Glu62Ala)
|
rs376100033
|
0.00001
|
|
NM_024809.5(TCTN2):c.1888_1889del (p.Leu630fs)
|
rs1408997904
|
0.00001
|
|
NM_024809.5(TCTN2):c.191-16G>T
|
rs756369722
|
0.00001
|
|
NM_024809.5(TCTN2):c.191-5T>G
|
rs755362026
|
0.00001
|
|
NM_024809.5(TCTN2):c.1966T>C (p.Trp656Arg)
|
rs756649431
|
0.00001
|
|
NM_024809.5(TCTN2):c.207G>A (p.Pro69=)
|
rs775096865
|
0.00001
|
|
NM_024809.5(TCTN2):c.2087A>G (p.Tyr696Cys)
|
rs188690113
|
0.00001
|
|
NM_024809.5(TCTN2):c.255G>C (p.Val85=)
|
rs1244229343
|
0.00001
|
|
NM_024809.5(TCTN2):c.267+4A>C
|
rs199924687
|
0.00001
|
|
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys)
|
rs757725319
|
0.00001
|
|
NM_024809.5(TCTN2):c.335C>T (p.Ser112Phe)
|
rs1955784094
|
0.00001
|
|
NM_024809.5(TCTN2):c.367dup (p.Leu123fs)
|
rs748951253
|
0.00001
|
|
NM_024809.5(TCTN2):c.419A>G (p.Gln140Arg)
|
rs375814526
|
0.00001
|
|
NM_024809.5(TCTN2):c.469G>A (p.Val157Met)
|
rs1299672825
|
0.00001
|
|
NM_024809.5(TCTN2):c.490G>A (p.Val164Met)
|
rs776834352
|
0.00001
|
|
NM_024809.5(TCTN2):c.504T>C (p.Leu168=)
|
rs1359077600
|
0.00001
|
|
NM_024809.5(TCTN2):c.622G>C (p.Gly208Arg)
|
rs1026850270
|
0.00001
|
|
NM_024809.5(TCTN2):c.677G>A (p.Arg226His)
|
rs774785140
|
0.00001
|
|
NM_024809.5(TCTN2):c.688G>A (p.Asp230Asn)
|
rs987899301
|
0.00001
|
|
NM_024809.5(TCTN2):c.707G>A (p.Cys236Tyr)
|
rs1267166699
|
0.00001
|
|
NM_024809.5(TCTN2):c.723T>C (p.Leu241=)
|
rs373992170
|
0.00001
|
|
NM_024809.5(TCTN2):c.731C>T (p.Thr244Ile)
|
rs760376471
|
0.00001
|
|
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His)
|
rs770325331
|
0.00001
|
|
NM_024809.5(TCTN2):c.82+7A>C
|
rs767155532
|
0.00001
|
|
NM_024809.5(TCTN2):c.83-20C>T
|
rs1311027569
|
0.00001
|
|
NM_024809.5(TCTN2):c.83-6G>A
|
rs756232884
|
0.00001
|
|
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu)
|
rs750458642
|
0.00001
|
|
NM_024809.5(TCTN2):c.89T>C (p.Ile30Thr)
|
rs760245764
|
0.00001
|
|
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu)
|
rs759754931
|
0.00001
|
|
NM_024809.5(TCTN2):c.914T>C (p.Met305Thr)
|
rs1166016156
|
0.00001
|
|
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)
|
rs754596743
|
0.00001
|
|
NM_025114.4(CEP290):c.1002A>G (p.Leu334=)
|
rs757621266
|
0.00001
|
|
NM_025114.4(CEP290):c.101A>T (p.Lys34Met)
|
rs574089816
|
0.00001
|
|
NM_025114.4(CEP290):c.102+13T>C
|
rs773325354
|
0.00001
|
|
NM_025114.4(CEP290):c.102+9T>C
|
rs757243626
|
0.00001
|
|
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro)
|
rs1429640081
|
0.00001
|
|
NM_025114.4(CEP290):c.103-17C>T
|
rs976920583
|
0.00001
|
|
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys)
|
rs753281190
|
0.00001
|
|
NM_025114.4(CEP290):c.1057C>T (p.Leu353=)
|
rs1036812157
|
0.00001
|
|
NM_025114.4(CEP290):c.1066-17T>C
|
rs761615192
|
0.00001
|
|
NM_025114.4(CEP290):c.1066-3T>C
|
rs996569804
|
0.00001
|
|
NM_025114.4(CEP290):c.1066-4A>G
|
rs2039668462
|
0.00001
|
|
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)
|
rs997653455
|
0.00001
|
|
NM_025114.4(CEP290):c.1107A>G (p.Glu369=)
|
rs1202218217
|
0.00001
|
|
NM_025114.4(CEP290):c.1150A>G (p.Ile384Val)
|
rs375428355
|
0.00001
|
|
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser)
|
rs891165640
|
0.00001
|
|
NM_025114.4(CEP290):c.1190-19T>C
|
rs892306905
|
0.00001
|
|
NM_025114.4(CEP290):c.1190-2A>G
|
rs200818935
|
0.00001
|
|
NM_025114.4(CEP290):c.1190-8C>T
|
rs764602507
|
0.00001
|
|
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala)
|
rs772026871
|
0.00001
|
|
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile)
|
rs781183605
|
0.00001
|
|
NM_025114.4(CEP290):c.1236G>A (p.Thr412=)
|
rs534187846
|
0.00001
|
|
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu)
|
rs376808205
|
0.00001
|
|
NM_025114.4(CEP290):c.1334_1339del (p.Leu445_Lys446del)
|
rs1323191320
|
0.00001
|
|
NM_025114.4(CEP290):c.1359+7A>T
|
rs2039362896
|
0.00001
|
|
NM_025114.4(CEP290):c.136G>A (p.Glu46Lys)
|
rs1018550969
|
0.00001
|
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
|
NM_025114.4(CEP290):c.1430G>A (p.Arg477Gln)
|
rs748917889
|
0.00001
|
|
NM_025114.4(CEP290):c.144G>A (p.Val48=)
|
rs752484237
|
0.00001
|
|
NM_025114.4(CEP290):c.1455A>G (p.Glu485=)
|
rs755893750
|
0.00001
|
|
NM_025114.4(CEP290):c.1464A>G (p.Lys488=)
|
rs747644093
|
0.00001
|
|
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter)
|
rs1278679056
|
0.00001
|
|
NM_025114.4(CEP290):c.1484A>G (p.Asp495Gly)
|
rs1228969929
|
0.00001
|
|
NM_025114.4(CEP290):c.1512A>G (p.Arg504=)
|
rs1592639705
|
0.00001
|
|
NM_025114.4(CEP290):c.1517G>A (p.Arg506His)
|
rs866571949
|
0.00001
|
|
NM_025114.4(CEP290):c.1523-11T>G
|
rs747839947
|
0.00001
|
|
NM_025114.4(CEP290):c.1523-4G>A
|
rs746906765
|
0.00001
|
|
NM_025114.4(CEP290):c.1523-7A>G
|
rs1413722193
|
0.00001
|
|
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn)
|
rs750163383
|
0.00001
|
|
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)
|
rs763559949
|
0.00001
|
|
NM_025114.4(CEP290):c.1596A>G (p.Arg532=)
|
rs770310236
|
0.00001
|
|
NM_025114.4(CEP290):c.1623+13G>A
|
rs746496743
|
0.00001
|
|
NM_025114.4(CEP290):c.1623+2C>A
|
rs2039218006
|
0.00001
|
|
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met)
|
rs762272190
|
0.00001
|
|
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)
|
rs1186821575
|
0.00001
|
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
|
NM_025114.4(CEP290):c.1646G>A (p.Arg549Gln)
|
rs774824252
|
0.00001
|
|
NM_025114.4(CEP290):c.1665A>T (p.Lys555Asn)
|
rs374824892
|
0.00001
|
|
NM_025114.4(CEP290):c.1680T>C (p.Ala560=)
|
rs777669368
|
0.00001
|
|
NM_025114.4(CEP290):c.168G>A (p.Gln56=)
|
rs1382787422
|
0.00001
|
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
|
NM_025114.4(CEP290):c.1711+6C>T
|
rs1285486059
|
0.00001
|
|
NM_025114.4(CEP290):c.1711+8C>T
|
rs765158159
|
0.00001
|
|
NM_025114.4(CEP290):c.1712-2A>T
|
rs764551108
|
0.00001
|
|
NM_025114.4(CEP290):c.1712-6A>G
|
rs1452155200
|
0.00001
|
|
NM_025114.4(CEP290):c.1712-8A>G
|
rs757895570
|
0.00001
|
|
NM_025114.4(CEP290):c.1712-9T>C
|
rs1412442444
|
0.00001
|
|
NM_025114.4(CEP290):c.1725G>A (p.Glu575=)
|
rs1278197433
|
0.00001
|
|
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu)
|
rs770829686
|
0.00001
|
|
NM_025114.4(CEP290):c.1779A>G (p.Lys593=)
|
rs374292851
|
0.00001
|
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
|
NM_025114.4(CEP290):c.180+9G>A
|
rs2040617810
|
0.00001
|
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
|
NM_025114.4(CEP290):c.181-9A>G
|
rs745494615
|
0.00001
|
|
NM_025114.4(CEP290):c.1824+16T>G
|
rs769650506
|
0.00001
|
|
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser)
|
rs761662102
|
0.00001
|
|
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr)
|
rs776346956
|
0.00001
|
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
|
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr)
|
rs772165172
|
0.00001
|
|
NM_025114.4(CEP290):c.1953G>A (p.Met651Ile)
|
rs1402439930
|
0.00001
|
|
NM_025114.4(CEP290):c.1977G>A (p.Lys659=)
|
rs1313927656
|
0.00001
|
|
NM_025114.4(CEP290):c.1992T>C (p.Asp664=)
|
rs1430141121
|
0.00001
|
|
NM_025114.4(CEP290):c.1999G>A (p.Val667Ile)
|
rs1374826842
|
0.00001
|
|
NM_025114.4(CEP290):c.2016A>G (p.Thr672=)
|
rs886038690
|
0.00001
|
|
NM_025114.4(CEP290):c.2052+17A>G
|
rs886038691
|
0.00001
|
|
NM_025114.4(CEP290):c.2052+20T>C
|
rs142162258
|
0.00001
|
|
NM_025114.4(CEP290):c.2052+7T>A
|
rs1341344972
|
0.00001
|
|
NM_025114.4(CEP290):c.2053-5G>T
|
rs764694042
|
0.00001
|
|
NM_025114.4(CEP290):c.2056A>G (p.Ile686Val)
|
rs1189284598
|
0.00001
|
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
|
NM_025114.4(CEP290):c.2073A>G (p.Ala691=)
|
rs766690438
|
0.00001
|
|
NM_025114.4(CEP290):c.2091G>A (p.Ala697=)
|
rs1399023990
|
0.00001
|
|
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)
|
rs769216455
|
0.00001
|
|
NM_025114.4(CEP290):c.2127C>T (p.Thr709=)
|
rs756894456
|
0.00001
|
|
NM_025114.4(CEP290):c.2131A>G (p.Arg711Gly)
|
rs758037479
|
0.00001
|
|
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln)
|
rs764117043
|
0.00001
|
|
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser)
|
rs752513342
|
0.00001
|
|
NM_025114.4(CEP290):c.2205A>G (p.Lys735=)
|
rs1398701243
|
0.00001
|
|
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
|
rs1378036383
|
0.00001
|
|
NM_025114.4(CEP290):c.2218-10T>C
|
rs1433595237
|
0.00001
|
|
NM_025114.4(CEP290):c.2277T>C (p.Val759=)
|
rs1253940761
|
0.00001
|
|
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro)
|
rs777365811
|
0.00001
|
|
NM_025114.4(CEP290):c.2329A>G (p.Ile777Val)
|
rs2038667110
|
0.00001
|
|
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)
|
rs748034744
|
0.00001
|
|
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
|
rs780990839
|
0.00001
|
|
NM_025114.4(CEP290):c.2367+8A>C
|
rs1373970415
|
0.00001
|
|
NM_025114.4(CEP290):c.2368-10C>T
|
rs1483385915
|
0.00001
|
|
NM_025114.4(CEP290):c.237A>G (p.Glu79=)
|
rs1206035309
|
0.00001
|
|
NM_025114.4(CEP290):c.2394A>G (p.Leu798=)
|
rs542236778
|
0.00001
|
|
NM_025114.4(CEP290):c.2408A>G (p.Asp803Gly)
|
rs927571972
|
0.00001
|
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
|
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys)
|
rs773007151
|
0.00001
|
|
NM_025114.4(CEP290):c.2448T>C (p.Arg816=)
|
rs371851348
|
0.00001
|
|
NM_025114.4(CEP290):c.2483+3_2483+7dup
|
rs1461768571
|
0.00001
|
|
NM_025114.4(CEP290):c.2490G>A (p.Lys830=)
|
rs1487806486
|
0.00001
|
|
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val)
|
rs1313832672
|
0.00001
|
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
|
NM_025114.4(CEP290):c.2587-19T>C
|
rs755086278
|
0.00001
|
|
NM_025114.4(CEP290):c.2587-3C>T
|
rs759025964
|
0.00001
|
|
NM_025114.4(CEP290):c.2587-6G>A
|
rs2038323989
|
0.00001
|
|
NM_025114.4(CEP290):c.2587-9T>C
|
rs766982108
|
0.00001
|
|
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)
|
rs903257336
|
0.00001
|
|
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu)
|
rs2038321332
|
0.00001
|
|
NM_025114.4(CEP290):c.2688T>C (p.Leu896=)
|
rs2038314751
|
0.00001
|
|
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met)
|
rs774079924
|
0.00001
|
|
NM_025114.4(CEP290):c.2712A>G (p.Val904=)
|
rs1371763035
|
0.00001
|
|
NM_025114.4(CEP290):c.2721G>A (p.Glu907=)
|
rs1238362600
|
0.00001
|
|
NM_025114.4(CEP290):c.2756A>G (p.Asn919Ser)
|
rs1489447514
|
0.00001
|
|
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile)
|
rs1000757966
|
0.00001
|
|
NM_025114.4(CEP290):c.2778T>C (p.Ala926=)
|
rs767032720
|
0.00001
|
|
NM_025114.4(CEP290):c.2826C>G (p.Ala942=)
|
rs1456663660
|
0.00001
|
|
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser)
|
rs967541984
|
0.00001
|
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
|
NM_025114.4(CEP290):c.2880T>C (p.Ser960=)
|
rs778138631
|
0.00001
|
|
NM_025114.4(CEP290):c.2909A>G (p.Asn970Ser)
|
rs951200727
|
0.00001
|
|
NM_025114.4(CEP290):c.291A>G (p.Glu97=)
|
rs757402765
|
0.00001
|
|
NM_025114.4(CEP290):c.2929A>C (p.Arg977=)
|
rs765840717
|
0.00001
|
|
NM_025114.4(CEP290):c.2940G>A (p.Leu980=)
|
rs750343200
|
0.00001
|
|
NM_025114.4(CEP290):c.297+16T>C
|
rs547662093
|
0.00001
|
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
0.00001
|
|
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp)
|
rs1265448566
|
0.00001
|
|
NM_025114.4(CEP290):c.298-11A>G
|
rs748232723
|
0.00001
|
|
NM_025114.4(CEP290):c.2991+11G>A
|
rs1214417467
|
0.00001
|
|
NM_025114.4(CEP290):c.2991G>A (p.Glu997=)
|
rs2037995979
|
0.00001
|
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
|
NM_025114.4(CEP290):c.3006C>T (p.Ser1002=)
|
rs748493455
|
0.00001
|
|
NM_025114.4(CEP290):c.3016C>G (p.Gln1006Glu)
|
rs1201691161
|
0.00001
|
|
NM_025114.4(CEP290):c.3024G>A (p.Glu1008=)
|
rs1227765663
|
0.00001
|
|
NM_025114.4(CEP290):c.3030A>C (p.Ile1010=)
|
rs1280566129
|
0.00001
|
|
NM_025114.4(CEP290):c.303T>G (p.Ala101=)
|
rs2040376122
|
0.00001
|
|
NM_025114.4(CEP290):c.3060A>G (p.Lys1020=)
|
rs948320708
|
0.00001
|
|
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr)
|
rs916545578
|
0.00001
|
|
NM_025114.4(CEP290):c.306G>A (p.Gln102=)
|
rs755418283
|
0.00001
|
|
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)
|
rs752144368
|
0.00001
|
|
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr)
|
rs1421960607
|
0.00001
|
|
NM_025114.4(CEP290):c.3104-5T>G
|
rs1302558061
|
0.00001
|
|
NM_025114.4(CEP290):c.3108T>C (p.Asn1036=)
|
rs2037242478
|
0.00001
|
|
NM_025114.4(CEP290):c.3129A>G (p.Ala1043=)
|
rs2037240316
|
0.00001
|
|
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)
|
rs1267970567
|
0.00001
|
|
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)
|
rs928926898
|
0.00001
|
|
NM_025114.4(CEP290):c.3180T>G (p.Thr1060=)
|
rs552585004
|
0.00001
|
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
|
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser)
|
rs1276779845
|
0.00001
|
|
NM_025114.4(CEP290):c.3225T>C (p.His1075=)
|
rs1238044392
|
0.00001
|
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
|
NM_025114.4(CEP290):c.3234A>G (p.Lys1078=)
|
rs376027433
|
0.00001
|
|
NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=)
|
rs886042467
|
0.00001
|
|
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu)
|
rs760934388
|
0.00001
|
|
NM_025114.4(CEP290):c.3258G>A (p.Ser1086=)
|
rs775973036
|
0.00001
|
|
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys)
|
rs778508890
|
0.00001
|
|
NM_025114.4(CEP290):c.3309+2T>C
|
rs1007902545
|
0.00001
|
|
NM_025114.4(CEP290):c.3310-10A>G
|
rs1178248633
|
0.00001
|
|
NM_025114.4(CEP290):c.3310-20T>C
|
rs1446567922
|
0.00001
|
|
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp)
|
rs1051440600
|
0.00001
|
|
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser)
|
rs373207132
|
0.00001
|
|
NM_025114.4(CEP290):c.3342G>A (p.Val1114=)
|
rs754811220
|
0.00001
|
|
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp)
|
rs759961956
|
0.00001
|
|
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=)
|
rs762723146
|
0.00001
|
|
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=)
|
rs747972826
|
0.00001
|
|
NM_025114.4(CEP290):c.3461+16C>T
|
rs1191430138
|
0.00001
|
|
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=)
|
rs1275942966
|
0.00001
|
|
NM_025114.4(CEP290):c.3557A>G (p.Gln1186Arg)
|
rs920028502
|
0.00001
|
|
NM_025114.4(CEP290):c.3561G>A (p.Leu1187=)
|
rs771857714
|
0.00001
|
|
NM_025114.4(CEP290):c.3562C>T (p.Leu1188=)
|
rs1241950761
|
0.00001
|
|
NM_025114.4(CEP290):c.3573+2T>C
|
rs1219277452
|
0.00001
|
|
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=)
|
rs376645523
|
0.00001
|
|
NM_025114.4(CEP290):c.3621T>C (p.Asn1207=)
|
rs761412978
|
0.00001
|
|
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys)
|
rs753350609
|
0.00001
|
|
NM_025114.4(CEP290):c.3644C>T (p.Ala1215Val)
|
rs1420933299
|
0.00001
|
|
NM_025114.4(CEP290):c.3663G>A (p.Leu1221=)
|
rs1268722686
|
0.00001
|
|
NM_025114.4(CEP290):c.366A>G (p.Lys122=)
|
rs774352665
|
0.00001
|
|
NM_025114.4(CEP290):c.3687G>A (p.Gln1229=)
|
rs1345968216
|
0.00001
|
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
|
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)
|
rs1159465602
|
0.00001
|
|
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
|
rs1342978055
|
0.00001
|
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
|
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)
|
rs1468942944
|
0.00001
|
|
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)
|
rs1412133967
|
0.00001
|
|
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)
|
rs267603712
|
0.00001
|
|
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
|
rs765521933
|
0.00001
|
|
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu)
|
rs1353300022
|
0.00001
|
|
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr)
|
rs1460182061
|
0.00001
|
|
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)
|
rs761010723
|
0.00001
|
|
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)
|
rs1417251616
|
0.00001
|
|
NM_025114.4(CEP290):c.393G>A (p.Leu131=)
|
rs780621500
|
0.00001
|
|
NM_025114.4(CEP290):c.3960G>A (p.Glu1320=)
|
rs2036812497
|
0.00001
|
|
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)
|
rs377156725
|
0.00001
|
|
NM_025114.4(CEP290):c.3G>A (p.Met1Ile)
|
rs773525033
|
0.00001
|
|
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val)
|
rs923112337
|
0.00001
|
|
NM_025114.4(CEP290):c.4083A>G (p.Leu1361=)
|
rs528988184
|
0.00001
|
|
NM_025114.4(CEP290):c.4131C>T (p.Asn1377=)
|
rs1217345596
|
0.00001
|
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00001
|
|
NM_025114.4(CEP290):c.419A>G (p.Lys140Arg)
|
rs750776051
|
0.00001
|
|
NM_025114.4(CEP290):c.4246C>T (p.Arg1416Cys)
|
rs776812442
|
0.00001
|
|
NM_025114.4(CEP290):c.4251A>G (p.Gln1417=)
|
rs775279240
|
0.00001
|
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
|
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His)
|
rs749261915
|
0.00001
|
|
NM_025114.4(CEP290):c.4299A>G (p.Gln1433=)
|
rs1457015763
|
0.00001
|
|
NM_025114.4(CEP290):c.4302+5G>A
|
rs1013125589
|
0.00001
|
|
NM_025114.4(CEP290):c.4303-15A>G
|
rs767235408
|
0.00001
|
|
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=)
|
rs372184970
|
0.00001
|
|
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn)
|
rs746106679
|
0.00001
|
|
NM_025114.4(CEP290):c.4344C>T (p.Pro1448=)
|
rs2036556391
|
0.00001
|
|
NM_025114.4(CEP290):c.4365C>T (p.Ile1455=)
|
rs552731286
|
0.00001
|
|
NM_025114.4(CEP290):c.4368T>G (p.Ala1456=)
|
rs772640114
|
0.00001
|
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
|
NM_025114.4(CEP290):c.441+14T>G
|
rs765642954
|
0.00001
|
|
NM_025114.4(CEP290):c.4431A>G (p.Leu1477=)
|
rs1435937461
|
0.00001
|
|
NM_025114.4(CEP290):c.4438-18A>G
|
rs761675817
|
0.00001
|
|
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=)
|
rs1220385672
|
0.00001
|
|
NM_025114.4(CEP290):c.4471G>A (p.Ala1491Thr)
|
rs771133112
|
0.00001
|
|
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met)
|
rs1328019408
|
0.00001
|
|
NM_025114.4(CEP290):c.4486C>A (p.Leu1496Met)
|
rs1026690396
|
0.00001
|
|
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile)
|
rs769989974
|
0.00001
|
|
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=)
|
rs748296011
|
0.00001
|
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
|
NM_025114.4(CEP290):c.452G>A (p.Arg151Gln)
|
rs753374614
|
0.00001
|
|
NM_025114.4(CEP290):c.4566A>G (p.Leu1522=)
|
rs763991371
|
0.00001
|
|
NM_025114.4(CEP290):c.4614T>C (p.Ala1538=)
|
rs747484394
|
0.00001
|
|
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr)
|
rs1217427527
|
0.00001
|
|
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)
|
rs746305733
|
0.00001
|
|
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys)
|
rs763605289
|
0.00001
|
|
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)
|
rs751408783
|
0.00001
|
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
|
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg)
|
rs751352443
|
0.00001
|
|
NM_025114.4(CEP290):c.4734G>A (p.Glu1578=)
|
rs1409082857
|
0.00001
|
|
NM_025114.4(CEP290):c.4812+6A>T
|
rs769525877
|
0.00001
|
|
NM_025114.4(CEP290):c.4812+9C>T
|
rs747569970
|
0.00001
|
|
NM_025114.4(CEP290):c.4813G>T (p.Asp1605Tyr)
|
rs554863859
|
0.00001
|
|
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
|
rs767636506
|
0.00001
|
|
NM_025114.4(CEP290):c.4824A>G (p.Lys1608=)
|
rs1273344761
|
0.00001
|
|
NM_025114.4(CEP290):c.4839A>G (p.Pro1613=)
|
rs1273165449
|
0.00001
|
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
|
NM_025114.4(CEP290):c.4887A>T (p.Thr1629=)
|
rs1179886652
|
0.00001
|
|
NM_025114.4(CEP290):c.4893A>C (p.Ala1631=)
|
rs752956198
|
0.00001
|
|
NM_025114.4(CEP290):c.4920C>G (p.Leu1640=)
|
rs1330745435
|
0.00001
|
|
NM_025114.4(CEP290):c.4936A>C (p.Lys1646Gln)
|
rs1348715646
|
0.00001
|
|
NM_025114.4(CEP290):c.4941A>G (p.Val1647=)
|
rs776334632
|
0.00001
|
|
NM_025114.4(CEP290):c.4948G>T (p.Asp1650Tyr)
|
rs368057362
|
0.00001
|
|
NM_025114.4(CEP290):c.496-4G>A
|
rs1263086196
|
0.00001
|
|
NM_025114.4(CEP290):c.496-6C>T
|
rs776649058
|
0.00001
|
|
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser)
|
rs1064795491
|
0.00001
|
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
|
NM_025114.4(CEP290):c.5012+7C>T
|
rs1459836393
|
0.00001
|
|
NM_025114.4(CEP290):c.5013-17A>G
|
rs2036114425
|
0.00001
|
|
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=)
|
rs1259897302
|
0.00001
|
|
NM_025114.4(CEP290):c.5028T>C (p.His1676=)
|
rs775086368
|
0.00001
|
|
NM_025114.4(CEP290):c.5073G>A (p.Lys1691=)
|
rs768807929
|
0.00001
|
|
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala)
|
rs1182703361
|
0.00001
|
|
NM_025114.4(CEP290):c.5163del (p.Thr1722fs)
|
rs1565827171
|
0.00001
|
|
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val)
|
rs542400806
|
0.00001
|
|
NM_025114.4(CEP290):c.517-17T>C
|
rs760912729
|
0.00001
|
|
NM_025114.4(CEP290):c.5181A>T (p.Val1727=)
|
rs1002651698
|
0.00001
|
|
NM_025114.4(CEP290):c.5218C>G (p.Gln1740Glu)
|
rs936648881
|
0.00001
|
|
NM_025114.4(CEP290):c.521A>T (p.Glu174Val)
|
rs774484028
|
0.00001
|
|
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=)
|
rs754590700
|
0.00001
|
|
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=)
|
rs747328752
|
0.00001
|
|
NM_025114.4(CEP290):c.5283A>G (p.Glu1761=)
|
rs749975524
|
0.00001
|
|
NM_025114.4(CEP290):c.5337C>T (p.Ile1779=)
|
rs1367796637
|
0.00001
|
|
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg)
|
rs773591434
|
0.00001
|
|
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=)
|
rs1452561924
|
0.00001
|
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
|
NM_025114.4(CEP290):c.5442A>G (p.Ser1814=)
|
rs1161234355
|
0.00001
|
|
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr)
|
rs1565822715
|
0.00001
|
|
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser)
|
rs776980750
|
0.00001
|
|
NM_025114.4(CEP290):c.5480A>C (p.Gln1827Pro)
|
rs771657596
|
0.00001
|
|
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=)
|
rs753424189
|
0.00001
|
|
NM_025114.4(CEP290):c.5526A>G (p.Glu1842=)
|
rs777528087
|
0.00001
|
|
NM_025114.4(CEP290):c.5541T>C (p.Asn1847=)
|
rs931780353
|
0.00001
|
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
|
NM_025114.4(CEP290):c.5586+9A>G
|
rs746293904
|
0.00001
|
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
|
NM_025114.4(CEP290):c.5589C>A (p.Gly1863=)
|
rs1391226067
|
0.00001
|
|
NM_025114.4(CEP290):c.5621T>C (p.Ile1874Thr)
|
rs781335780
|
0.00001
|
|
NM_025114.4(CEP290):c.5640A>G (p.Lys1880=)
|
rs1225010541
|
0.00001
|
|
NM_025114.4(CEP290):c.5670A>C (p.Gly1890=)
|
rs545964640
|
0.00001
|
|
NM_025114.4(CEP290):c.5688C>T (p.Asp1896=)
|
rs1166115017
|
0.00001
|
|
NM_025114.4(CEP290):c.5707A>G (p.Lys1903Glu)
|
rs878855334
|
0.00001
|
|
NM_025114.4(CEP290):c.5709+5G>A
|
rs2035845308
|
0.00001
|
|
NM_025114.4(CEP290):c.5710-14C>T
|
rs766723760
|
0.00001
|
|
NM_025114.4(CEP290):c.5710-6T>C
|
rs772896946
|
0.00001
|
|
NM_025114.4(CEP290):c.5751G>A (p.Lys1917=)
|
rs1384070051
|
0.00001
|
|
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)
|
rs746949236
|
0.00001
|
|
NM_025114.4(CEP290):c.5808C>T (p.Val1936=)
|
rs905571067
|
0.00001
|
|
NM_025114.4(CEP290):c.583T>C (p.Leu195=)
|
rs1429521689
|
0.00001
|
|
NM_025114.4(CEP290):c.5859C>T (p.Ala1953=)
|
rs727503852
|
0.00001
|
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
|
NM_025114.4(CEP290):c.5919G>A (p.Gln1973=)
|
rs1231554118
|
0.00001
|
|
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)
|
rs1354836663
|
0.00001
|
|
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)
|
rs371525247
|
0.00001
|
|
NM_025114.4(CEP290):c.5933G>A (p.Arg1978Gln)
|
rs774881412
|
0.00001
|
|
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)
|
rs767426153
|
0.00001
|
|
NM_025114.4(CEP290):c.597G>A (p.Gly199=)
|
rs757015598
|
0.00001
|
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
|
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=)
|
rs766355219
|
0.00001
|
|
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)
|
rs750073051
|
0.00001
|
|
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His)
|
rs745998591
|
0.00001
|
|
NM_025114.4(CEP290):c.6072C>T (p.Tyr2024=)
|
rs779262951
|
0.00001
|
|
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly)
|
rs756608200
|
0.00001
|
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
|
NM_025114.4(CEP290):c.6135+8T>A
|
rs759481991
|
0.00001
|
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
|
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=)
|
rs1175295227
|
0.00001
|
|
NM_025114.4(CEP290):c.6207A>G (p.Ser2069=)
|
rs1327169453
|
0.00001
|
|
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)
|
rs753687613
|
0.00001
|
|
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=)
|
rs374183249
|
0.00001
|
|
NM_025114.4(CEP290):c.6270+19A>G
|
rs1181927624
|
0.00001
|
|
NM_025114.4(CEP290):c.6271-8T>C
|
rs1039146791
|
0.00001
|
|
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr)
|
rs2034573032
|
0.00001
|
|
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr)
|
rs527704077
|
0.00001
|
|
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr)
|
rs1208196086
|
0.00001
|
|
NM_025114.4(CEP290):c.6357+3A>G
|
rs777062671
|
0.00001
|
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
|
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu)
|
rs752851135
|
0.00001
|
|
NM_025114.4(CEP290):c.6375G>A (p.Lys2125=)
|
rs1408298921
|
0.00001
|
|
NM_025114.4(CEP290):c.6381C>T (p.Ile2127=)
|
rs761864807
|
0.00001
|
|
NM_025114.4(CEP290):c.6426A>G (p.Glu2142=)
|
rs1303402400
|
0.00001
|
|
NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr)
|
rs1319955144
|
0.00001
|
|
NM_025114.4(CEP290):c.6525T>C (p.Ala2175=)
|
rs2034343634
|
0.00001
|
|
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr)
|
rs535765861
|
0.00001
|
|
NM_025114.4(CEP290):c.6555G>A (p.Gly2185=)
|
rs1282398701
|
0.00001
|
|
NM_025114.4(CEP290):c.6575A>G (p.Tyr2192Cys)
|
rs1222842886
|
0.00001
|
|
NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr)
|
rs768539400
|
0.00001
|
|
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly)
|
rs779145328
|
0.00001
|
|
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)
|
rs777841957
|
0.00001
|
|
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)
|
rs1409872235
|
0.00001
|
|
NM_025114.4(CEP290):c.6645+6A>T
|
rs765992358
|
0.00001
|
|
NM_025114.4(CEP290):c.6648A>G (p.Glu2216=)
|
rs1048414150
|
0.00001
|
|
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=)
|
rs544886883
|
0.00001
|
|
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln)
|
rs1214939378
|
0.00001
|
|
NM_025114.4(CEP290):c.669+20A>G
|
rs373119842
|
0.00001
|
|
NM_025114.4(CEP290):c.669+8G>T
|
rs768408897
|
0.00001
|
|
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=)
|
rs755447230
|
0.00001
|
|
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)
|
rs1375836634
|
0.00001
|
|
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg)
|
rs371397659
|
0.00001
|
|
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg)
|
rs535571590
|
0.00001
|
|
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met)
|
rs1355908667
|
0.00001
|
|
NM_025114.4(CEP290):c.6818+5G>A
|
rs935214183
|
0.00001
|
|
NM_025114.4(CEP290):c.6819-10A>G
|
rs150241790
|
0.00001
|
|
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)
|
rs1212611161
|
0.00001
|
|
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=)
|
rs759290213
|
0.00001
|
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
0.00001
|
|
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=)
|
rs768771609
|
0.00001
|
|
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg)
|
rs1424407266
|
0.00001
|
|
NM_025114.4(CEP290):c.7020G>A (p.Glu2340=)
|
rs749716804
|
0.00001
|
|
NM_025114.4(CEP290):c.7035A>G (p.Arg2345=)
|
rs760964107
|
0.00001
|
|
NM_025114.4(CEP290):c.7082A>G (p.Gln2361Arg)
|
rs766016762
|
0.00001
|
|
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=)
|
rs1176691356
|
0.00001
|
|
NM_025114.4(CEP290):c.7130-16A>G
|
rs1430895394
|
0.00001
|
|
NM_025114.4(CEP290):c.7131T>C (p.Asp2377=)
|
rs759638203
|
0.00001
|
|
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met)
|
rs770168358
|
0.00001
|
|
NM_025114.4(CEP290):c.7197G>A (p.Lys2399=)
|
rs779550219
|
0.00001
|
|
NM_025114.4(CEP290):c.7210-16A>G
|
rs762987255
|
0.00001
|
|
NM_025114.4(CEP290):c.7210-5A>T
|
rs2033257006
|
0.00001
|
|
NM_025114.4(CEP290):c.7213G>A (p.Glu2405Lys)
|
rs1393659962
|
0.00001
|
|
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg)
|
rs199790246
|
0.00001
|
|
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys)
|
rs1233939358
|
0.00001
|
|
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys)
|
rs949161264
|
0.00001
|
|
NM_025114.4(CEP290):c.726T>C (p.Asn242=)
|
rs949161264
|
0.00001
|
|
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=)
|
rs1397480003
|
0.00001
|
|
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn)
|
rs534440681
|
0.00001
|
|
NM_025114.4(CEP290):c.7314T>C (p.Asn2438=)
|
rs1555193066
|
0.00001
|
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
|
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)
|
rs756042946
|
0.00001
|
|
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=)
|
rs1415533078
|
0.00001
|
|
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)
|
rs778907433
|
0.00001
|
|
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)
|
rs762238709
|
0.00001
|
|
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)
|
rs754398792
|
0.00001
|
|
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg)
|
rs794727762
|
0.00001
|
|
NM_025114.4(CEP290):c.772A>C (p.Asn258His)
|
rs979378806
|
0.00001
|
|
NM_025114.4(CEP290):c.784G>A (p.Ala262Thr)
|
rs1331352301
|
0.00001
|
|
NM_025114.4(CEP290):c.787A>G (p.Ile263Val)
|
rs1477583890
|
0.00001
|
|
NM_025114.4(CEP290):c.78T>C (p.Asp26=)
|
rs2040639110
|
0.00001
|
|
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
|
rs753760503
|
0.00001
|
|
NM_025114.4(CEP290):c.834C>T (p.Asn278=)
|
rs567493515
|
0.00001
|
|
NM_025114.4(CEP290):c.838C>T (p.His280Tyr)
|
rs575493480
|
0.00001
|
|
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly)
|
rs958209779
|
0.00001
|
|
NM_025114.4(CEP290):c.942+20A>G
|
rs1409061084
|
0.00001
|
|
NM_025114.4(CEP290):c.978G>A (p.Glu326=)
|
rs935755196
|
0.00001
|
|
NM_153704.6(TMEM67):c.1014T>C (p.Asp338=)
|
rs766110263
|
0.00001
|
|
NM_153704.6(TMEM67):c.1066C>G (p.Leu356Val)
|
rs1371143789
|
0.00001
|
|
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)
|
rs863225235
|
0.00001
|
|
NM_153704.6(TMEM67):c.1145T>G (p.Ile382Ser)
|
rs1212851821
|
0.00001
|
|
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg)
|
rs1455416289
|
0.00001
|
|
NM_153704.6(TMEM67):c.1209T>G (p.Asp403Glu)
|
rs1160691103
|
0.00001
|
|
NM_153704.6(TMEM67):c.1288+6A>G
|
rs766852784
|
0.00001
|
|
NM_153704.6(TMEM67):c.1294A>G (p.Asn432Asp)
|
rs768285863
|
0.00001
|
|
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)
|
rs267607118
|
0.00001
|
|
NM_153704.6(TMEM67):c.1318C>T (p.Arg440Trp)
|
rs774746409
|
0.00001
|
|
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His)
|
rs386834183
|
0.00001
|
|
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)
|
rs116647652
|
0.00001
|
|
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)
|
rs749435317
|
0.00001
|
|
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter)
|
rs778155409
|
0.00001
|
|
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=)
|
rs747752903
|
0.00001
|
|
NM_153704.6(TMEM67):c.152A>G (p.Asn51Ser)
|
rs1165968607
|
0.00001
|
|
NM_153704.6(TMEM67):c.1576-9G>T
|
rs760002634
|
0.00001
|
|
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)
|
rs774701716
|
0.00001
|
|
NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu)
|
rs267607114
|
0.00001
|
|
NM_153704.6(TMEM67):c.1646G>A (p.Arg549His)
|
rs768457119
|
0.00001
|
|
NM_153704.6(TMEM67):c.1675-13T>A
|
rs144538020
|
0.00001
|
|
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)
|
rs1281778614
|
0.00001
|
|
NM_153704.6(TMEM67):c.1734C>T (p.Ile578=)
|
rs774011311
|
0.00001
|
|
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)
|
rs267607115
|
0.00001
|
|
NM_153704.6(TMEM67):c.1773+14T>A
|
rs1370201374
|
0.00001
|
|
NM_153704.6(TMEM67):c.1845T>A (p.Cys615Ter)
|
rs1258492758
|
0.00001
|
|
NM_153704.6(TMEM67):c.1886T>A (p.Ile629Lys)
|
rs1213811614
|
0.00001
|
|
NM_153704.6(TMEM67):c.1895T>G (p.Ile632Ser)
|
rs1440787153
|
0.00001
|
|
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln)
|
rs769827614
|
0.00001
|
|
NM_153704.6(TMEM67):c.1A>G (p.Met1Val)
|
rs772948173
|
0.00001
|
|
NM_153704.6(TMEM67):c.2100+3A>G
|
rs376417882
|
0.00001
|
|
NM_153704.6(TMEM67):c.2176C>T (p.Pro726Ser)
|
rs746521577
|
0.00001
|
|
NM_153704.6(TMEM67):c.2188A>G (p.Ile730Val)
|
rs776427277
|
0.00001
|
|
NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=)
|
rs774835190
|
0.00001
|
|
NM_153704.6(TMEM67):c.223+9G>A
|
rs1264088122
|
0.00001
|
|
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr)
|
rs947256938
|
0.00001
|
|
NM_153704.6(TMEM67):c.226A>G (p.Thr76Ala)
|
rs747598603
|
0.00001
|
|
NM_153704.6(TMEM67):c.231A>G (p.Ser77=)
|
rs769535902
|
0.00001
|
|
NM_153704.6(TMEM67):c.2322+2dup
|
rs386834192
|
0.00001
|
|
NM_153704.6(TMEM67):c.2323-12C>A
|
rs1007807232
|
0.00001
|
|
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val)
|
rs762351497
|
0.00001
|
|
NM_153704.6(TMEM67):c.2345A>G (p.His782Arg)
|
rs777137476
|
0.00001
|
|
NM_153704.6(TMEM67):c.2370T>C (p.His790=)
|
rs1475347154
|
0.00001
|
|
NM_153704.6(TMEM67):c.239G>A (p.Cys80Tyr)
|
rs1812545095
|
0.00001
|
|
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val)
|
rs199874479
|
0.00001
|
|
NM_153704.6(TMEM67):c.2439+5G>C
|
rs756686115
|
0.00001
|
|
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)
|
rs201791586
|
0.00001
|
|
NM_153704.6(TMEM67):c.2440-11T>C
|
rs767482660
|
0.00001
|
|
NM_153704.6(TMEM67):c.2447T>G (p.Leu816Trp)
|
rs753654003
|
0.00001
|
|
NM_153704.6(TMEM67):c.2557-11T>C
|
rs370652713
|
0.00001
|
|
NM_153704.6(TMEM67):c.2661+4T>C
|
rs1298703067
|
0.00001
|
|
NM_153704.6(TMEM67):c.2662-4T>C
|
rs374804519
|
0.00001
|
|
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser)
|
rs1461948623
|
0.00001
|
|
NM_153704.6(TMEM67):c.2732T>A (p.Met911Lys)
|
rs765686583
|
0.00001
|
|
NM_153704.6(TMEM67):c.2765-4A>C
|
rs1242768505
|
0.00001
|
|
NM_153704.6(TMEM67):c.2774A>G (p.Tyr925Cys)
|
rs376103225
|
0.00001
|
|
NM_153704.6(TMEM67):c.2789T>C (p.Val930Ala)
|
rs199549673
|
0.00001
|
|
NM_153704.6(TMEM67):c.2814T>C (p.Thr938=)
|
rs777590979
|
0.00001
|
|
NM_153704.6(TMEM67):c.28G>A (p.Ala10Thr)
|
rs1247854097
|
0.00001
|
|
NM_153704.6(TMEM67):c.2907+15T>C
|
rs1218036498
|
0.00001
|
|
NM_153704.6(TMEM67):c.2948T>C (p.Leu983Ser)
|
rs775933592
|
0.00001
|
|
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe)
|
rs375047471
|
0.00001
|
|
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)
|
rs797046045
|
0.00001
|
|
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)
|
rs146838062
|
0.00001
|
|
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)
|
rs751309268
|
0.00001
|
|
NM_153704.6(TMEM67):c.312+5G>A
|
rs786200868
|
0.00001
|
|
NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter)
|
rs386834201
|
0.00001
|
|
NM_153704.6(TMEM67):c.459T>A (p.Cys153Ter)
|
rs745935752
|
0.00001
|
|
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)
|
rs750950408
|
0.00001
|
|
NM_153704.6(TMEM67):c.582G>A (p.Gly194=)
|
rs1230815674
|
0.00001
|
|
NM_153704.6(TMEM67):c.601A>G (p.Thr201Ala)
|
rs771031546
|
0.00001
|
|
NM_153704.6(TMEM67):c.638G>A (p.Arg213His)
|
rs770605718
|
0.00001
|
|
NM_153704.6(TMEM67):c.651+20T>G
|
rs767640779
|
0.00001
|
|
NM_153704.6(TMEM67):c.652-6T>C
|
rs1282835643
|
0.00001
|
|
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)
|
rs386834205
|
0.00001
|
|
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro)
|
rs767886819
|
0.00001
|
|
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)
|
rs775883520
|
0.00001
|
|
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu)
|
rs371462532
|
0.00001
|
|
NM_153704.6(TMEM67):c.766A>G (p.Asn256Asp)
|
rs369178053
|
0.00001
|
|
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)
|
rs863225227
|
0.00001
|
|
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=)
|
rs966581270
|
0.00001
|
|
NM_153704.6(TMEM67):c.783C>T (p.Asp261=)
|
rs780748968
|
0.00001
|
|
NM_153704.6(TMEM67):c.79C>T (p.Leu27=)
|
rs763698200
|
0.00001
|
|
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)
|
rs769957689
|
0.00001
|
|
NM_153704.6(TMEM67):c.869+11T>G
|
rs759451327
|
0.00001
|
|
NM_153704.6(TMEM67):c.882T>C (p.Leu294=)
|
rs200110207
|
0.00001
|
|
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe)
|
rs1376394849
|
0.00001
|
|
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met)
|
rs779950527
|
0.00001
|
|
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly)
|
rs750006477
|
0.00001
|
|
NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro)
|
rs864622335
|
0.00001
|
|
NM_153704.6(TMEM67):c.983C>T (p.Thr328Ile)
|
rs776653840
|
0.00001
|
|
NC_000004.11:g.(?_15477537)_(15603068_?)del
|
|
|
|
NC_000004.11:g.(?_15477557)_(15477615_?)del
|
|
|
|
NC_000004.11:g.(?_15477557)_(15482471_?)del
|
|
|
|
NC_000004.11:g.(?_15477557)_(15504566_?)del
|
|
|
|
NC_000004.11:g.(?_15477557)_(16228080_?)dup
|
|
|
|
NC_000004.11:g.(?_15478346)_(15482422_?)del
|
|
|
|
NC_000004.11:g.(?_15480327)_(15482471_?)del
|
|
|
|
NC_000004.11:g.(?_15480341)_(15482457_?)del
|
|
|
|
NC_000004.11:g.(?_15482308)_(15482471_?)dup
|
|
|
|
NC_000004.11:g.(?_15482308)_(15560900_?)del
|
|
|
|
NC_000004.11:g.(?_15504032)_(15513066_?)del
|
|
|
|
NC_000004.11:g.(?_15511794)_(15573510_?)del
|
|
|
|
NC_000004.11:g.(?_15529050)_(15530369_?)del
|
|
|
|
NC_000004.11:g.(?_15529050)_(15554948_?)del
|
|
|
|
NC_000004.11:g.(?_15554761)_(15556853_?)del
|
|
|
|
NC_000004.11:g.(?_15565496)_(15581640_?)del
|
|
|
|
NC_000004.11:g.(?_15568980)_(15569429_?)del
|
|
|
|
NC_000004.11:g.(?_15599010)_(15603048_?)del
|
|
|
|
NC_000004.11:g.15589466_15589468delGAA
|
rs794729225
|
|
|
NC_000004.11:g.15601250_15601251delCT
|
rs794729226
|
|
|
NC_000004.12:g.(?_15478723)_(15480827_?)del
|
|
|
|
NC_000004.12:g.(?_15540837)_(15541014_?)del
|
|
|
|
NC_000004.12:g.15574152_15574155del
|
|
|
|
NC_000008.10:g.(?_94767143)_(94828680_?)dup
|
|
|
|
NC_000008.10:g.(?_94767143)_(94935901_?)del
|
|
|
|
NC_000008.10:g.(?_94770691)_(94777894_?)del
|
|
|
|
NC_000008.10:g.(?_94777614)_(94777894_?)del
|
|
|
|
NC_000008.10:g.(?_94797471)_(94808642_?)del
|
|
|
|
NC_000008.10:g.(?_94808184)_(94818223_?)del
|
|
|
|
NC_000008.10:g.(?_94821048)_(94821409_?)del
|
|
|
|
NC_000008.10:g.(?_94821048)_(94822135_?)del
|
|
|
|
NC_000008.10:g.(?_94827513)_(94827695_?)del
|
|
|
|
NC_000008.11:g.93799747GGAATTATACAGGTAA[3]
|
|
|
|
NC_000012.11:g.(?_111057621)_(111057781_?)del
|
|
|
|
NC_000012.11:g.(?_111064147)_(111064317_?)del
|
|
|
|
NC_000012.11:g.(?_111064147)_(111074326_?)del
|
|
|
|
NC_000012.11:g.(?_111079754)_(111082915_?)del
|
|
|
|
NC_000012.11:g.(?_124114696)_(124192260_?)dup
|
|
|
|
NC_000012.11:g.(?_124158142)_(124163856_?)dup
|
|
|
|
NC_000012.11:g.(?_124171363)_(124242579_?)del
|
|
|
|
NC_000012.11:g.(?_124177185)_(124177290_?)del
|
|
|
|
NC_000012.11:g.(?_124189059)_(124192260_?)del
|
|
|
|
NC_000012.11:g.(?_124192131)_(124192260_?)del
|
|
|
|
NC_000012.11:g.(?_88209612)_(88484553_?)del
|
|
|
|
NC_000012.11:g.(?_88209614)_(88484553_?)del
|
|
|
|
NC_000012.11:g.(?_88442955)_(88449500_?)dup
|
|
|
|
NC_000012.11:g.(?_88442961)_(88449494_?)dup
|
|
|
|
NC_000012.11:g.(?_88442961)_(88452817_?)del
|
|
|
|
NC_000012.11:g.(?_88447419)_(88448200_?)del
|
|
|
|
NC_000012.11:g.(?_88447419)_(88448200_?)dup
|
|
|
|
NC_000012.11:g.(?_88452605)_(88454791_?)dup
|
|
|
|
NC_000012.11:g.(?_88452605)_(88494960_?)del
|
|
|
|
NC_000012.11:g.(?_88452605)_(88525015_?)del
|
|
|
|
NC_000012.11:g.(?_88452615)_(88453807_?)del
|
|
|
|
NC_000012.11:g.(?_88465051)_(88465723_?)del
|
|
|
|
NC_000012.11:g.(?_88465051)_(88496808_?)del
|
|
|
|
NC_000012.11:g.(?_88465051)_(88508979_?)dup
|
|
|
|
NC_000012.11:g.(?_88470989)_(88473016_?)del
|
|
|
|
NC_000012.11:g.(?_88471559)_(88471893_?)del
|
|
|
|
NC_000012.11:g.(?_88472849)_(88535092_?)del
|
|
|
|
NC_000012.11:g.(?_88479796)_(88514963_?)del
|
|
|
|
NC_000012.11:g.(?_88481537)_(88523673_?)del
|
|
|
|
NC_000012.11:g.(?_88484485)_(88487772_?)del
|
|
|
|
NC_000012.11:g.(?_88494960)_(88512540_?)dup
|
|
|
|
NC_000012.11:g.(?_88502823)_(88525015_?)del
|
|
|
|
NC_000012.11:g.(?_88510800)_(88510932_?)del
|
|
|
|
NC_000012.11:g.(?_88512250)_(88519156_?)del
|
|
|
|
NC_000012.11:g.(?_88517531)_(88519028_?)del
|
|
|
|
NC_000012.11:g.(?_88532902)_(88533361_?)del
|
|
|
|
NC_000012.12:g.(?_110626342)_(110642409_?)del
|
|
|
|
NC_000012.12:g.(?_123671221)_(123707733_?)dup
|
|
|
|
NC_000012.12:g.(?_123692638)_(123707733_?)dup
|
|
|
|
NC_000012.12:g.(?_123699684)_(123699830_?)del
|
|
|
|
NC_000012.12:g.(?_87983103)_(88507137_?)del
|
|
|
|
NC_000016.10:g.(?_53619015)_(53622366_?)del
|
|
|
|
NC_000016.10:g.(?_53619025)_(53622456_?)del
|
|
|
|
NC_000016.10:g.(?_53656472)_(53687965_?)del
|
|
|
|
NC_000016.10:g.(?_75539974)_(75545515_?)del
|
|
|
|
NC_000016.10:g.75556262T>C
|
rs1176007249
|
|
|
NC_000016.10:g.75556264G>A
|
rs2151711350
|
|
|
NC_000016.10:g.75556268C>T
|
|
|
|
NC_000016.10:g.75556270A>C
|
|
|
|
NC_000016.9:g.(?_53635988)_(53656288_?)del
|
|
|
|
NC_000016.9:g.(?_53635988)_(54967785_?)dup
|
|
|
|
NC_000016.9:g.(?_53635988)_(55539614_?)del
|
|
|
|
NC_000016.9:g.(?_53639383)_(53698931_?)del
|
|
|
|
NC_000016.9:g.(?_53644869)_(53644973_?)del
|
|
|
|
NC_000016.9:g.(?_53652917)_(53656288_?)del
|
|
|
|
NC_000016.9:g.(?_53656111)_(53656288_?)dup
|
|
|
|
NC_000016.9:g.(?_53672132)_(53679723_?)del
|
|
|
|
NC_000016.9:g.(?_53672254)_(53676298_?)del
|
|
|
|
NC_000016.9:g.(?_53674925)_(53734635_?)del
|
|
|
|
NC_000016.9:g.(?_53690364)_(53709054_?)del
|
|
|
|
NC_000016.9:g.(?_53691355)_(53692800_?)del
|
|
|
|
NC_000016.9:g.(?_53692306)_(53698941_?)del
|
|
|
|
NC_000016.9:g.(?_53692402)_(53694155_?)del
|
|
|
|
NC_000016.9:g.(?_53698762)_(53698941_?)del
|
|
|
|
NC_000016.9:g.(?_53698772)_(53734645_?)del
|
|
|
|
NC_000016.9:g.(?_53705412)_(53705505_?)del
|
|
|
|
NC_000016.9:g.(?_53705412)_(53706938_?)del
|
|
|
|
NC_000016.9:g.(?_53705412)_(53721887_?)del
|
|
|
|
NC_000016.9:g.(?_53706762)_(53709054_?)del
|
|
|
|
NC_000016.9:g.(?_53708919)_(53709044_?)del
|
|
|
|
NC_000016.9:g.(?_53720325)_(53721897_?)del
|
|
|
|
NC_000016.9:g.(?_53720335)_(53721887_?)del
|
|
|
|
NC_000016.9:g.(?_53720335)_(53721887_?)dup
|
|
|
|
NC_000016.9:g.(?_53720345)_(53721877_?)del
|
|
|
|
NC_000016.9:g.(?_53721765)_(53721887_?)del
|
|
|
|
NC_000016.9:g.(?_53721765)_(53734645_?)del
|
|
|
|
NC_000016.9:g.(?_53721798)_(53724290_?)del
|
|
|
|
NC_000016.9:g.(?_53729213)_(53730217_?)del
|
|
|
|
NC_000016.9:g.(?_53729213)_(53730217_?)dup
|
|
|
|
NC_000016.9:g.(?_53734541)_(53734645_?)del
|
|
|
|
NC_000016.9:g.(?_75490611)_(75576599_?)del
|
|
|
|
NC_000016.9:g.(?_75512539)_(75576601_?)del
|
|
|
|
NC_000016.9:g.(?_75573872)_(75579413_?)dup
|
|
|
|
NC_000016.9:g.(?_75573891)_(75579393_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75574092_?)del
|
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)del
|
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75579403_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)del
|
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75579872_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75690509_?)del
|
|
|
|
NC_000016.9:g.(?_75575228)_(75579413_?)dup
|
|
|
|
NC_000016.9:g.(?_75579704)_(75579872_?)del
|
|
|
|
NC_000016.9:g.(?_75579704)_(75590169_?)dup
|
|
|
|
NC_000016.9:g.(?_75589682)_(75590169_?)del
|
|
|
|
NC_000016.9:g.(?_75589682)_(75690509_?)dup
|
|
|
|
NC_000017.10:g.(?_16842861)_(19578885_?)dup
|
|
|
|
NC_000017.10:g.(?_19263613)_(19265882_?)dup
|
|
|
|
NC_000017.10:g.(?_54671585)_(59938900_?)dup
|
|
|
|
NC_000017.10:g.(?_56289719)_(56294117_?)del
|
|
|
|
NC_000017.10:g.(?_56293914)_(56294114_?)del
|
|
|
|
NC_000017.10:g.(?_56295969)_(56296506_?)del
|
|
|
|
NC_000017.10:g.(?_56295971)_(56296882_?)del
|
|
|
|
NC_000017.10:g.(?_56296502)_(56296882_?)del
|
|
|
|
NC_000017.11:g.(?_58206283)_(58206581_?)del
|
|
|
|
NC_000019.9:g.(?_41854180)_(41869424_?)dup
|
|
|
|
NM_001077418.3(TMEM231):c.-16C>A
|
|
|
|
NM_001077418.3(TMEM231):c.-17G>T
|
rs768513169
|
|
|
NM_001077418.3(TMEM231):c.-22G>C
|
|
|
|
NM_001077418.3(TMEM231):c.-25C>T
|
|
|
|
NM_001077418.3(TMEM231):c.-30C>A
|
rs2080810566
|
|
|
NM_001077418.3(TMEM231):c.-37G>A
|
|
|
|
NM_001077418.3(TMEM231):c.-38T>C
|
rs758946916
|
|
|
NM_001077418.3(TMEM231):c.-41A>C
|
rs765256905
|
|
|
NM_001077418.3(TMEM231):c.-8C>T
|
rs780752063
|
|
|
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
|
|
|
|
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
|
|
|
|
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.139+12C>T
|
rs937269706
|
|
|
NM_001077418.3(TMEM231):c.139+14G>A
|
|
|
|
NM_001077418.3(TMEM231):c.139+1del
|
rs2151711054
|
|
|
NM_001077418.3(TMEM231):c.139+28G>A
|
rs370005084
|
|
|
NM_001077418.3(TMEM231):c.139+39G>C
|
rs1448302846
|
|
|
NM_001077418.3(TMEM231):c.139+39_139+40del
|
|
|
|
NM_001077418.3(TMEM231):c.139+44G>T
|
|
|
|
NM_001077418.3(TMEM231):c.139+48G>T
|
rs1234390023
|
|
|
NM_001077418.3(TMEM231):c.139+9G>A
|
|
|
|
NM_001077418.3(TMEM231):c.140-10T>C
|
rs2151710900
|
|
|
NM_001077418.3(TMEM231):c.140-29C>T
|
|
|
|
NM_001077418.3(TMEM231):c.140-2A>G
|
rs1216670609
|
|
|
NM_001077418.3(TMEM231):c.140-30A>C
|
rs2080806593
|
|
|
NM_001077418.3(TMEM231):c.140-39G>A
|
|
|
|
NM_001077418.3(TMEM231):c.140-3C>G
|
rs776673877
|
|
|
NM_001077418.3(TMEM231):c.140-47C>G
|
rs369232571
|
|
|
NM_001077418.3(TMEM231):c.140-5C>T
|
|
|
|
NM_001077418.3(TMEM231):c.140-8dup
|
|
|
|
NM_001077418.3(TMEM231):c.140-9_140-8del
|
|
|
|
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu)
|
rs2151710882
|
|
|
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
|
|
|
|
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
|
|
|
|
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
|
|
|
|
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
|
|
|
|
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
|
|
|
|
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
|
|
|
|
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys)
|
rs772102451
|
|
|
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
|
|
|
|
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
|
|
|
|
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
|
|
|
|
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=)
|
rs781250253
|
|
|
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
|
|
|
|
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
|
|
|
|
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp)
|
rs1350319069
|
|
|
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val)
|
rs2151710764
|
|
|
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val)
|
rs2080804915
|
|
|
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
|
|
|
|
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
|
|
|
|
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn)
|
rs753709447
|
|
|
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
|
|
|
|
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
|
|
|
|
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
|
|
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
|
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=)
|
rs2151710642
|
|
|
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
|
|
|
|
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
|
|
|
|
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
|
|
|
|
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
|
|
|
|
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
|
|
|
|
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile)
|
rs2151710524
|
|
|
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
|
|
|
|
NM_001077418.3(TMEM231):c.309+12C>T
|
|
|
|
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=)
|
rs2151710504
|
|
|
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
|
rs2151710504
|
|
|
NM_001077418.3(TMEM231):c.310-15G>C
|
rs2151703201
|
|
|
NM_001077418.3(TMEM231):c.310-18C>T
|
|
|
|
NM_001077418.3(TMEM231):c.310-4C>G
|
rs2080685365
|
|
|
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
|
|
|
|
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly)
|
rs1415195367
|
|
|
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
|
|
|
|
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
|
|
|
|
NM_001077418.3(TMEM231):c.354dup (p.His119fs)
|
rs2151703115
|
|
|
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
|
|
|
|
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)
|
rs775329522
|
|
|
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
|
rs1202833405
|
|
|
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
|
|
|
|
NM_001077418.3(TMEM231):c.396T>C (p.Val132=)
|
rs1187444555
|
|
|
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
|
|
|
|
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
|
|
|
|
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
|
|
|
|
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=)
|
rs2080683492
|
|
|
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
|
|
|
|
NM_001077418.3(TMEM231):c.438+13G>A
|
rs780849828
|
|
|
NM_001077418.3(TMEM231):c.438+13G>T
|
rs780849828
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
|
NM_001077418.3(TMEM231):c.438+3G>A
|
rs1183368030
|
|
|
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
|
|
|
|
NM_001077418.3(TMEM231):c.439-11A>G
|
|
|
|
NM_001077418.3(TMEM231):c.439-20G>T
|
|
|
|
NM_001077418.3(TMEM231):c.439-33_538del
|
|
|
|
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
|
|
|
|
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
|
|
|
|
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg)
|
rs2080678228
|
|
|
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
|
|
|
|
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
|
|
|
|
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
|
|
|
|
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp)
|
rs1597041448
|
|
|
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu)
|
rs549400559
|
|
|
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr)
|
rs903354438
|
|
|
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
|
|
|
|
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
|
|
|
|
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=)
|
rs1335128278
|
|
|
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
|
|
|
|
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
|
|
|
|
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter)
|
rs2151702587
|
|
|
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe)
|
rs1280264089
|
|
|
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
|
|
|
|
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu)
|
rs2151702535
|
|
|
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
|
|
|
|
NM_001077418.3(TMEM231):c.582+17T>G
|
|
|
|
NM_001077418.3(TMEM231):c.582+8C>T
|
|
|
|
NM_001077418.3(TMEM231):c.583-1_583delinsAG
|
rs2151700036
|
|
|
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
|
|
|
|
NM_001077418.3(TMEM231):c.583-3C>G
|
|
|
|
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
|
|
|
|
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
|
|
|
|
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
|
|
|
|
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
|
|
|
|
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
|
rs2080639506
|
|
|
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
|
|
|
|
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu)
|
rs397514753
|
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
|
NM_001077418.3(TMEM231):c.665-13G>C
|
|
|
|
NM_001077418.3(TMEM231):c.665-19G>T
|
rs200581224
|
|
|
NM_001077418.3(TMEM231):c.665-19_665-13del
|
|
|
|
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
|
|
|
|
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
|
|
|
|
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
|
|
|
|
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val)
|
rs1567441268
|
|
|
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
|
|
|
|
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
|
|
|
|
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
|
|
|
|
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr)
|
rs1344067825
|
|
|
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
|
|
|
|
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr)
|
rs139236786
|
|
|
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
|
|
|
|
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu)
|
rs1277858041
|
|
|
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
|
|
|
|
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
|
|
|
|
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val)
|
rs951457866
|
|
|
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
|
|
|
|
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala)
|
rs1295551040
|
|
|
NM_001077418.3(TMEM231):c.770+20G>A
|
|
|
|
NM_001077418.3(TMEM231):c.770+3A>G
|
rs2080625882
|
|
|
NM_001077418.3(TMEM231):c.770+6C>G
|
|
|
|
NM_001077418.3(TMEM231):c.771-17T>G
|
|
|
|
NM_001077418.3(TMEM231):c.771-4A>G
|
|
|
|
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
|
|
|
|
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
|
rs758048238
|
|
|
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
|
rs2151697774
|
|
|
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys)
|
rs797044954
|
|
|
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=)
|
rs754352443
|
|
|
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
|
|
|
|
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
|
|
|
|
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
|
|
|
|
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
|
|
|
|
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
|
|
|
|
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
|
rs2080604225
|
|
|
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
|
|
|
|
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
|
|
|
|
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
|
|
|
|
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
|
|
|
|
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
|
|
|
|
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr)
|
rs2151697600
|
|
|
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
|
|
|
|
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
|
|
|
|
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
|
|
|
|
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
|
|
|
|
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)
|
rs1362332031
|
|
|
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
|
|
|
|
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
|
|
|
|
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
|
|
|
|
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
|
|
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
|
NM_001082538.3(TCTN1):c.1004_1013delinsCCTCACATACACAGCCTCACATACACAG (p.Asp335_Glu338delinsAlaSerHisThrGlnProHisIleHisArg)
|
|
|
|
NM_001082538.3(TCTN1):c.1009G>C (p.Gly337Arg)
|
rs2136130583
|
|
|
NM_001082538.3(TCTN1):c.1030C>A (p.Leu344Ile)
|
rs1056341678
|
|
|
NM_001082538.3(TCTN1):c.1033T>A (p.Ser345Thr)
|
rs2066918404
|
|
|
NM_001082538.3(TCTN1):c.1039G>A (p.Val347Ile)
|
rs199967338
|
|
|
NM_001082538.3(TCTN1):c.1045G>A (p.Gly349Arg)
|
|
|
|
NM_001082538.3(TCTN1):c.1050A>G (p.Thr350=)
|
|
|
|
NM_001082538.3(TCTN1):c.1079A>G (p.Gln360Arg)
|
rs774343613
|
|
|
NM_001082538.3(TCTN1):c.1083G>C (p.Lys361Asn)
|
|
|
|
NM_001082538.3(TCTN1):c.1086T>G (p.Phe362Leu)
|
rs2066921812
|
|
|
NM_001082538.3(TCTN1):c.1104+14A>G
|
|
|
|
NM_001082538.3(TCTN1):c.1104+2T>C
|
|
|
|
NM_001082538.3(TCTN1):c.1105-14G>C
|
|
|
|
NM_001082538.3(TCTN1):c.1109A>G (p.Asn370Ser)
|
|
|
|
NM_001082538.3(TCTN1):c.1119A>T (p.Pro373=)
|
rs2136135794
|
|
|
NM_001082538.3(TCTN1):c.1125T>C (p.Pro375=)
|
|
|
|
NM_001082538.3(TCTN1):c.114C>A (p.Thr38=)
|
|
|
|
NM_001082538.3(TCTN1):c.1176C>T (p.Phe392=)
|
|
|
|
NM_001082538.3(TCTN1):c.1191-17C>G
|
|
|
|
NM_001082538.3(TCTN1):c.1209C>A (p.Thr403=)
|
|
|
|
NM_001082538.3(TCTN1):c.1219T>C (p.Tyr407His)
|
|
|
|
NM_001082538.3(TCTN1):c.121G>T (p.Ala41Ser)
|
|
|
|
NM_001082538.3(TCTN1):c.1222G>A (p.Gly408Arg)
|
|
|
|
NM_001082538.3(TCTN1):c.1233T>A (p.Thr411=)
|
|
|
|
NM_001082538.3(TCTN1):c.1235T>C (p.Ile412Thr)
|
rs2136144284
|
|
|
NM_001082538.3(TCTN1):c.125T>C (p.Leu42Pro)
|
rs1415245710
|
|
|
NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile)
|
rs560599144
|
|
|
NM_001082538.3(TCTN1):c.1283G>A (p.Arg428Gln)
|
|
|
|
NM_001082538.3(TCTN1):c.1327C>T (p.Leu443=)
|
|
|
|
NM_001082538.3(TCTN1):c.1331+15T>C
|
|
|
|
NM_001082538.3(TCTN1):c.1332-17_1332-15del
|
rs1346752512
|
|
|
NM_001082538.3(TCTN1):c.1332-1G>C
|
|
|
|
NM_001082538.3(TCTN1):c.1337C>G (p.Thr446Ser)
|
|
|
|
NM_001082538.3(TCTN1):c.1351T>G (p.Cys451Gly)
|
|
|
|
NM_001082538.3(TCTN1):c.1360G>T (p.Val454Leu)
|
rs369759157
|
|
|
NM_001082538.3(TCTN1):c.1361T>C (p.Val454Ala)
|
|
|
|
NM_001082538.3(TCTN1):c.1380C>G (p.Ser460Arg)
|
rs2136171528
|
|
|
NM_001082538.3(TCTN1):c.1386G>A (p.Leu462=)
|
|
|
|
NM_001082538.3(TCTN1):c.1386G>T (p.Leu462=)
|
|
|
|
NM_001082538.3(TCTN1):c.1415C>A (p.Ala472Asp)
|
|
|
|
NM_001082538.3(TCTN1):c.1417C>T (p.Pro473Ser)
|
rs757074241
|
|
|
NM_001082538.3(TCTN1):c.1418del (p.Pro473fs)
|
rs757348545
|
|
|
NM_001082538.3(TCTN1):c.1425A>C (p.Gly475=)
|
|
|
|
NM_001082538.3(TCTN1):c.1434G>A (p.Gln478=)
|
rs2136172368
|
|
|
NM_001082538.3(TCTN1):c.1465del (p.His489fs)
|
rs2136172776
|
|
|
NM_001082538.3(TCTN1):c.146C>G (p.Pro49Arg)
|
rs571241015
|
|
|
NM_001082538.3(TCTN1):c.146C>T (p.Pro49Leu)
|
|
|
|
NM_001082538.3(TCTN1):c.1479G>A (p.Gln493=)
|
|
|
|
NM_001082538.3(TCTN1):c.1494+10A>G
|
|
|
|
NM_001082538.3(TCTN1):c.1494+1G>A
|
rs1165243207
|
|
|
NM_001082538.3(TCTN1):c.1494+21del
|
|
|
|
NM_001082538.3(TCTN1):c.1494+9G>A
|
|
|
|
NM_001082538.3(TCTN1):c.1495-15C>G
|
|
|
|
NM_001082538.3(TCTN1):c.1495-2A>G
|
|
|
|
NM_001082538.3(TCTN1):c.1503T>G (p.Val501=)
|
rs2067384815
|
|
|
NM_001082538.3(TCTN1):c.1505dup (p.Leu502fs)
|
|
|
|
NM_001082538.3(TCTN1):c.1517G>A (p.Cys506Tyr)
|
rs2136195685
|
|
|
NM_001082538.3(TCTN1):c.151A>G (p.Thr51Ala)
|
|
|
|
NM_001082538.3(TCTN1):c.1524C>T (p.Leu508=)
|
|
|
|
NM_001082538.3(TCTN1):c.1527del (p.Ala511fs)
|
rs2136195903
|
|
|
NM_001082538.3(TCTN1):c.156G>T (p.Arg52Ser)
|
|
|
|
NM_001082538.3(TCTN1):c.156del (p.Arg52fs)
|
rs766816100
|
|
|
NM_001082538.3(TCTN1):c.1595T>A (p.Val532Asp)
|
|
|
|
NM_001082538.3(TCTN1):c.1599T>C (p.Asn533=)
|
rs2136196716
|
|
|
NM_001082538.3(TCTN1):c.159C>T (p.Pro53=)
|
|
|
|
NM_001082538.3(TCTN1):c.1600G>A (p.Val534Ile)
|
|
|
|
NM_001082538.3(TCTN1):c.1623C>T (p.Ser541=)
|
rs2067393633
|
|
|
NM_001082538.3(TCTN1):c.1626C>T (p.Ser542=)
|
rs2136196962
|
|
|
NM_001082538.3(TCTN1):c.1636-13C>G
|
rs2136202456
|
|
|
NM_001082538.3(TCTN1):c.1636-16T>G
|
|
|
|
NM_001082538.3(TCTN1):c.1636-18TC[2]
|
rs201913681
|
|
|
NM_001082538.3(TCTN1):c.1636-20C>G
|
|
|
|
NM_001082538.3(TCTN1):c.1639A>G (p.Asn547Asp)
|
|
|
|
NM_001082538.3(TCTN1):c.163_164delinsAA (p.Gly55Lys)
|
|
|
|
NM_001082538.3(TCTN1):c.1641C>G (p.Asn547Lys)
|
|
|
|
NM_001082538.3(TCTN1):c.1666_1668dup (p.Ile556dup)
|
rs773918437
|
|
|
NM_001082538.3(TCTN1):c.1671C>T (p.Ser557=)
|
rs200067409
|
|
|
NM_001082538.3(TCTN1):c.1676C>A (p.Ala559Glu)
|
rs373723058
|
|
|
NM_001082538.3(TCTN1):c.1677G>A (p.Ala559=)
|
|
|
|
NM_001082538.3(TCTN1):c.167C>T (p.Thr56Ile)
|
rs2135829550
|
|
|
NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser)
|
rs1277761197
|
|
|
NM_001082538.3(TCTN1):c.1687G>T (p.Val563Leu)
|
rs1593399731
|
|
|
NM_001082538.3(TCTN1):c.1691A>C (p.Asp564Ala)
|
|
|
|
NM_001082538.3(TCTN1):c.1705G>A (p.Ala569Thr)
|
|
|
|
NM_001082538.3(TCTN1):c.1722A>C (p.Arg574Ser)
|
rs560372787
|
|
|
NM_001082538.3(TCTN1):c.1731A>G (p.Pro577=)
|
|
|
|
NM_001082538.3(TCTN1):c.1749G>A (p.Leu583=)
|
|
|
|
NM_001082538.3(TCTN1):c.1758C>T (p.Asn586=)
|
|
|
|
NM_001082538.3(TCTN1):c.1759TTC[2] (p.Phe589del)
|
|
|
|
NM_001082538.3(TCTN1):c.1759TTC[4] (p.Phe589dup)
|
rs1482826487
|
|
|
NM_001082538.3(TCTN1):c.1759_1760inv (p.Phe587Asn)
|
|
|
|
NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)
|
|
|
|
NM_001082538.3(TCTN1):c.1775_1778del (p.Val592fs)
|
rs1353535488
|
|
|
NM_001082538.3(TCTN1):c.186C>G (p.Pro62=)
|
|
|
|
NM_001082538.3(TCTN1):c.18C>G (p.Leu6=)
|
|
|
|
NM_001082538.3(TCTN1):c.198C>T (p.Pro66=)
|
rs745624307
|
|
|
NM_001082538.3(TCTN1):c.19C>T (p.Pro7Ser)
|
rs2135826823
|
|
|
NM_001082538.3(TCTN1):c.202C>G (p.Pro68Ala)
|
|
|
|
NM_001082538.3(TCTN1):c.205A>G (p.Thr69Ala)
|
|
|
|
NM_001082538.3(TCTN1):c.209_210del (p.Pro70fs)
|
|
|
|
NM_001082538.3(TCTN1):c.210dup (p.Val71fs)
|
|
|
|
NM_001082538.3(TCTN1):c.216G>C (p.Thr72=)
|
|
|
|
NM_001082538.3(TCTN1):c.220+10A>C
|
|
|
|
NM_001082538.3(TCTN1):c.220+11T>C
|
|
|
|
NM_001082538.3(TCTN1):c.220+12dup
|
|
|
|
NM_001082538.3(TCTN1):c.220+15C>A
|
|
|
|
NM_001082538.3(TCTN1):c.221-12T>C
|
rs2065291069
|
|
|
NM_001082538.3(TCTN1):c.221-7dup
|
rs768471137
|
|
|
NM_001082538.3(TCTN1):c.221-8_221-7del
|
|
|
|
NM_001082538.3(TCTN1):c.233G>C (p.Cys78Ser)
|
rs760047850
|
|
|
NM_001082538.3(TCTN1):c.235G>T (p.Val79Phe)
|
|
|
|
NM_001082538.3(TCTN1):c.249C>T (p.Ser83=)
|
rs2135904897
|
|
|
NM_001082538.3(TCTN1):c.24G>A (p.Pro8=)
|
rs2135826966
|
|
|
NM_001082538.3(TCTN1):c.251C>T (p.Pro84Leu)
|
|
|
|
NM_001082538.3(TCTN1):c.256_257del (p.Gln86fs)
|
|
|
|
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
|
|
|
|
NM_001082538.3(TCTN1):c.284C>T (p.Pro95Leu)
|
|
|
|
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys)
|
rs1593225303
|
|
|
NM_001082538.3(TCTN1):c.316T>C (p.Ser106Pro)
|
|
|
|
NM_001082538.3(TCTN1):c.332C>T (p.Pro111Leu)
|
|
|
|
NM_001082538.3(TCTN1):c.334G>C (p.Val112Leu)
|
rs1461650187
|
|
|
NM_001082538.3(TCTN1):c.341+10C>T
|
rs201488724
|
|
|
NM_001082538.3(TCTN1):c.341+20A>G
|
|
|
|
NM_001082538.3(TCTN1):c.341+20A>T
|
|
|
|
NM_001082538.3(TCTN1):c.342-10T>A
|
|
|
|
NM_001082538.3(TCTN1):c.342-17del
|
|
|
|
NM_001082538.3(TCTN1):c.342-19T>C
|
|
|
|
NM_001082538.3(TCTN1):c.347A>G (p.Asp116Gly)
|
|
|
|
NM_001082538.3(TCTN1):c.363T>C (p.Ser121=)
|
|
|
|
NM_001082538.3(TCTN1):c.37C>T (p.Leu13Phe)
|
rs762387258
|
|
|
NM_001082538.3(TCTN1):c.395C>T (p.Thr132Ile)
|
|
|
|
NM_001082538.3(TCTN1):c.396A>C (p.Thr132=)
|
|
|
|
NM_001082538.3(TCTN1):c.39C>G (p.Leu13=)
|
|
|
|
NM_001082538.3(TCTN1):c.401A>G (p.Asn134Ser)
|
|
|
|
NM_001082538.3(TCTN1):c.402C>T (p.Asn134=)
|
|
|
|
NM_001082538.3(TCTN1):c.411_412del (p.Arg138fs)
|
rs1398514249
|
|
|
NM_001082538.3(TCTN1):c.425TTG[1] (p.Val143del)
|
|
|
|
NM_001082538.3(TCTN1):c.436dup (p.Ile146fs)
|
rs2065847886
|
|
|
NM_001082538.3(TCTN1):c.469A>G (p.Asn157Asp)
|
rs1338880412
|
|
|
NM_001082538.3(TCTN1):c.472+14A>G
|
|
|
|
NM_001082538.3(TCTN1):c.472+14_472+15del
|
|
|
|
NM_001082538.3(TCTN1):c.472+15T>C
|
|
|
|
NM_001082538.3(TCTN1):c.472+18A>G
|
|
|
|
NM_001082538.3(TCTN1):c.472+1G>C
|
|
|
|
NM_001082538.3(TCTN1):c.473-10del
|
rs771463400
|
|
|
NM_001082538.3(TCTN1):c.473-10dup
|
rs771463400
|
|
|
NM_001082538.3(TCTN1):c.473-4dup
|
|
|
|
NM_001082538.3(TCTN1):c.496A>C (p.Asn166His)
|
|
|
|
NM_001082538.3(TCTN1):c.499C>A (p.Pro167Thr)
|
rs2136005301
|
|
|
NM_001082538.3(TCTN1):c.512A>G (p.Asp171Gly)
|
|
|
|
NM_001082538.3(TCTN1):c.532T>C (p.Leu178=)
|
|
|
|
NM_001082538.3(TCTN1):c.560T>C (p.Leu187Ser)
|
rs2066031755
|
|
|
NM_001082538.3(TCTN1):c.585C>T (p.Phe195=)
|
rs774402021
|
|
|
NM_001082538.3(TCTN1):c.586A>G (p.Thr196Ala)
|
|
|
|
NM_001082538.3(TCTN1):c.604C>T (p.Pro202Ser)
|
|
|
|
NM_001082538.3(TCTN1):c.614C>G (p.Ala205Gly)
|
|
|
|
NM_001082538.3(TCTN1):c.624+12C>A
|
|
|
|
NM_001082538.3(TCTN1):c.625-16G>A
|
rs1193239700
|
|
|
NM_001082538.3(TCTN1):c.625-16G>C
|
|
|
|
NM_001082538.3(TCTN1):c.630G>A (p.Gly210=)
|
|
|
|
NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln)
|
rs2066300090
|
|
|
NM_001082538.3(TCTN1):c.667C>T (p.Pro223Ser)
|
rs770297289
|
|
|
NM_001082538.3(TCTN1):c.669T>C (p.Pro223=)
|
|
|
|
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)
|
rs797046038
|
|
|
NM_001082538.3(TCTN1):c.712+19T>G
|
rs1407011800
|
|
|
NM_001082538.3(TCTN1):c.712+8del
|
|
|
|
NM_001082538.3(TCTN1):c.720G>A (p.Leu240=)
|
rs2066445334
|
|
|
NM_001082538.3(TCTN1):c.767G>T (p.Cys256Phe)
|
|
|
|
NM_001082538.3(TCTN1):c.782C>G (p.Ala261Gly)
|
rs2136070459
|
|
|
NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly)
|
rs771495390
|
|
|
NM_001082538.3(TCTN1):c.809C>A (p.Pro270Gln)
|
|
|
|
NM_001082538.3(TCTN1):c.822+1G>A
|
|
|
|
NM_001082538.3(TCTN1):c.823-13T>C
|
|
|
|
NM_001082538.3(TCTN1):c.823-17G>C
|
|
|
|
NM_001082538.3(TCTN1):c.843+1G>C
|
rs2066579666
|
|
|
NM_001082538.3(TCTN1):c.843+4A>G
|
|
|
|
NM_001082538.3(TCTN1):c.843+8TATT[2]
|
rs775925984
|
|
|
NM_001082538.3(TCTN1):c.844-10C>T
|
rs1565998186
|
|
|
NM_001082538.3(TCTN1):c.844G>A (p.Val282Ile)
|
|
|
|
NM_001082538.3(TCTN1):c.84G>A (p.Pro28=)
|
rs777519512
|
|
|
NM_001082538.3(TCTN1):c.84G>C (p.Pro28=)
|
|
|
|
NM_001082538.3(TCTN1):c.899G>C (p.Arg300Pro)
|
|
|
|
NM_001082538.3(TCTN1):c.902_929dup (p.Thr310_Leu311insGlyGlyHisTer)
|
rs2066879614
|
|
|
NM_001082538.3(TCTN1):c.915T>C (p.Asp305=)
|
|
|
|
NM_001082538.3(TCTN1):c.933C>A (p.Leu311=)
|
|
|
|
NM_001082538.3(TCTN1):c.942T>C (p.Ala314=)
|
|
|
|
NM_001082538.3(TCTN1):c.962del (p.Val321fs)
|
|
|
|
NM_001082538.3(TCTN1):c.978+9C>T
|
rs1193894596
|
|
|
NM_001082538.3(TCTN1):c.979-8G>A
|
rs1182390950
|
|
|
NM_001082538.3(TCTN1):c.993C>G (p.Leu331=)
|
|
|
|
NM_001142301.1(TMEM67):c.2522-6del
|
rs747342409
|
|
|
NM_001378615.1(CC2D2A):c.1002G>A (p.Leu334=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1005G>A (p.Leu335=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1014C>T (p.Asp338=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+11A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+12C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+19C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+3A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1017+5G>A
|
rs2109012967
|
|
|
NM_001378615.1(CC2D2A):c.1017+7G>T
|
rs137919504
|
|
|
NM_001378615.1(CC2D2A):c.1018-14T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1018-18C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1018-1G>A
|
rs1716886666
|
|
|
NM_001378615.1(CC2D2A):c.1018-20T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1018-5T>G
|
rs2109013647
|
|
|
NM_001378615.1(CC2D2A):c.1018-6C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1018-6del
|
rs2109013642
|
|
|
NM_001378615.1(CC2D2A):c.1018-9C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1026A>G (p.Arg342=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1035A>C (p.Gly345=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1042G>A (p.Gly348Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.1044C>T (p.Gly348=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1049T>C (p.Ile350Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.1068C>T (p.Pro356=)
|
rs2109013744
|
|
|
NM_001378615.1(CC2D2A):c.1071C>T (p.Ile357=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1091C>G (p.Pro364Arg)
|
rs768618373
|
|
|
NM_001378615.1(CC2D2A):c.1092G>A (p.Pro364=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1092G>T (p.Pro364=)
|
rs774216288
|
|
|
NM_001378615.1(CC2D2A):c.1096G>C (p.Val366Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.1098A>T (p.Val366=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1101A>G (p.Leu367=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1102A>G (p.Thr368Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.1105C>T (p.Gln369Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.1110G>A (p.Glu370=)
|
rs1289826078
|
|
|
NM_001378615.1(CC2D2A):c.1117A>G (p.Ile373Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.111A>T (p.Pro37=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1122G>A (p.Lys374=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1126G>C (p.Glu376Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)
|
rs16892095
|
|
|
NM_001378615.1(CC2D2A):c.1127_1128delinsCA (p.Glu376Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.1139T>C (p.Leu380Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.113G>A (p.Arg38Lys)
|
rs2108970106
|
|
|
NM_001378615.1(CC2D2A):c.1149+10C>T
|
rs752000548
|
|
|
NM_001378615.1(CC2D2A):c.1149+15C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1149+19C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1149+19C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1150-13C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1150-13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1150-15dup
|
|
|
|
NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1182G>A (p.Val394=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1182G>C (p.Val394=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1188A>G (p.Arg396=)
|
rs2109023994
|
|
|
NM_001378615.1(CC2D2A):c.1190C>T (p.Ser397Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.1196A>C (p.Asp399Ala)
|
rs2109024009
|
|
|
NM_001378615.1(CC2D2A):c.119A>C (p.Lys40Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.119A>G (p.Lys40Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.1203T>C (p.Pro401=)
|
rs940435544
|
|
|
NM_001378615.1(CC2D2A):c.1218G>C (p.Leu406=)
|
|
|
|
NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter)
|
rs2108970120
|
|
|
NM_001378615.1(CC2D2A):c.1229T>C (p.Ile410Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.123+16A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.123+23_123+24del
|
rs960925783
|
|
|
NM_001378615.1(CC2D2A):c.123+2T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.123+9T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1236G>C (p.Gly412=)
|
|
|
|
NM_001378615.1(CC2D2A):c.124-13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.124-14C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.124-18C>T
|
rs1162714204
|
|
|
NM_001378615.1(CC2D2A):c.124-1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.124-9T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.124-9_124-7del
|
|
|
|
NM_001378615.1(CC2D2A):c.1247C>T (p.Thr416Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.1260T>G (p.Cys420Trp)
|
rs751436798
|
|
|
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGC (p.Ser422fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1266C>G (p.Ser422Arg)
|
rs1229319521
|
|
|
NM_001378615.1(CC2D2A):c.1269A>T (p.Arg423=)
|
rs745715017
|
|
|
NM_001378615.1(CC2D2A):c.1275T>C (p.His425=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1281G>A (p.Leu427=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1287C>A (p.Ala429=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1297del (p.Gln433fs)
|
rs1560166488
|
|
|
NM_001378615.1(CC2D2A):c.12G>A (p.Arg4=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1305T>C (p.Tyr435=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1307A>T (p.Asp436Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.130A>G (p.Thr44Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.1312T>C (p.Tyr438His)
|
|
|
|
NM_001378615.1(CC2D2A):c.1326C>A (p.His442Gln)
|
rs1284018435
|
|
|
NM_001378615.1(CC2D2A):c.1331G>A (p.Arg444Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs)
|
rs386833745
|
|
|
NM_001378615.1(CC2D2A):c.1350T>C (p.Leu450=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1354G>A (p.Asp452Asn)
|
rs1443260159
|
|
|
NM_001378615.1(CC2D2A):c.1359+14C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1359+14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1359+19A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1359+1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1359+7G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1359+9G>T
|
rs369964702
|
|
|
NM_001378615.1(CC2D2A):c.1360-12T>A
|
rs1717637000
|
|
|
NM_001378615.1(CC2D2A):c.1360-13A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1360-15C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1360-8G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1360-9C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1360C>T (p.Leu454Phe)
|
rs868776328
|
|
|
NM_001378615.1(CC2D2A):c.1365A>G (p.Gln455=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1370T>A (p.Leu457Ter)
|
rs1131691659
|
|
|
NM_001378615.1(CC2D2A):c.1371A>C (p.Leu457Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.1377T>C (p.Asn459=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1392C>A (p.Gly464=)
|
rs755258233
|
|
|
NM_001378615.1(CC2D2A):c.1392C>G (p.Gly464=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1392C>T (p.Gly464=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1393C>T (p.Leu465Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=)
|
rs886059136
|
|
|
NM_001378615.1(CC2D2A):c.1421T>C (p.Leu474Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.1422C>G (p.Leu474=)
|
rs377448964
|
|
|
NM_001378615.1(CC2D2A):c.1423G>A (p.Asp475Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.1425T>C (p.Asp475=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1431C>A (p.Ile477=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1440del (p.Ile481fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1452T>C (p.Tyr484=)
|
rs2109025199
|
|
|
NM_001378615.1(CC2D2A):c.1465C>A (p.Arg489=)
|
rs145678228
|
|
|
NM_001378615.1(CC2D2A):c.1465C>T (p.Arg489Ter)
|
rs145678228
|
|
|
NM_001378615.1(CC2D2A):c.1466+13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1466+14_1466+16del
|
rs751142207
|
|
|
NM_001378615.1(CC2D2A):c.1466+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1466+2T>C
|
rs770219362
|
|
|
NM_001378615.1(CC2D2A):c.1466+4A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-11A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-14A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-17G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-17G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-21_1467-20del
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-4G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1467-7C>T
|
rs2109029775
|
|
|
NM_001378615.1(CC2D2A):c.1468C>T (p.Gln490Ter)
|
rs1288358527
|
|
|
NM_001378615.1(CC2D2A):c.1469A>G (p.Gln490Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.1485T>C (p.Arg495=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1494A>G (p.Glu498=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1498del (p.Glu500fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys)
|
rs765810643
|
|
|
NM_001378615.1(CC2D2A):c.1511C>T (p.Thr504Ile)
|
rs1717945434
|
|
|
NM_001378615.1(CC2D2A):c.1512A>G (p.Thr504=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1524T>C (p.Thr508=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1526T>C (p.Ile509Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.1533A>T (p.Lys511Asn)
|
rs1577354625
|
|
|
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)
|
rs2109029867
|
|
|
NM_001378615.1(CC2D2A):c.1545G>A (p.Glu515=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1547T>C (p.Met516Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.1551A>G (p.Lys517=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1554C>G (p.Ser518=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1557T>G (p.Leu519=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1561G>C (p.Glu521Gln)
|
rs756638247
|
|
|
NM_001378615.1(CC2D2A):c.1565T>C (p.Phe522Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.1580A>G (p.Asn527Ser)
|
rs2109029921
|
|
|
NM_001378615.1(CC2D2A):c.1596del (p.Val533fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1607+12del
|
|
|
|
NM_001378615.1(CC2D2A):c.1607+19T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1607+24_1607+28del
|
rs2109029956
|
|
|
NM_001378615.1(CC2D2A):c.1607+6C>A
|
rs2109029936
|
|
|
NM_001378615.1(CC2D2A):c.1608-12del
|
|
|
|
NM_001378615.1(CC2D2A):c.1608-18C>A
|
rs1303472925
|
|
|
NM_001378615.1(CC2D2A):c.1608-2A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1611A>C (p.Glu537Asp)
|
rs762714528
|
|
|
NM_001378615.1(CC2D2A):c.1621C>A (p.Gln541Lys)
|
rs1160716658
|
|
|
NM_001378615.1(CC2D2A):c.1629A>C (p.Ala543=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1632T>G (p.Asp544Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.1633G>A (p.Glu545Lys)
|
rs749783221
|
|
|
NM_001378615.1(CC2D2A):c.1634AAG[1] (p.Glu546del)
|
rs750868948
|
|
|
NM_001378615.1(CC2D2A):c.1638A>G (p.Glu546=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1640C>T (p.Ala547Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.1644T>A (p.Tyr548Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.165C>A (p.Ser55=)
|
|
|
|
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)
|
rs794727713
|
|
|
NM_001378615.1(CC2D2A):c.1666A>G (p.Ile556Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.1666del (p.Glu555_Ile556insTer)
|
rs773740057
|
|
|
NM_001378615.1(CC2D2A):c.1670G>C (p.Ser557Thr)
|
rs1479599144
|
|
|
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro)
|
rs754221308
|
|
|
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg)
|
rs754221308
|
|
|
NM_001378615.1(CC2D2A):c.1677G>A (p.Leu559=)
|
rs1560170993
|
|
|
NM_001378615.1(CC2D2A):c.1680A>G (p.Leu560=)
|
rs1410261022
|
|
|
NM_001378615.1(CC2D2A):c.1681G>C (p.Glu561Gln)
|
rs2109034008
|
|
|
NM_001378615.1(CC2D2A):c.1684G>A (p.Glu562Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.1684G>T (p.Glu562Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.1691C>A (p.Thr564Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.1692G>A (p.Thr564=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1693GAG[1] (p.Glu566del)
|
rs1718166919
|
|
|
NM_001378615.1(CC2D2A):c.1695G>A (p.Glu565=)
|
|
|
|
NM_001378615.1(CC2D2A):c.16G>T (p.Glu6Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.1710G>A (p.Lys570=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1720T>A (p.Tyr574Asn)
|
rs768277071
|
|
|
NM_001378615.1(CC2D2A):c.1722C>T (p.Tyr574=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1727C>T (p.Thr576Met)
|
|
|
|
NM_001378615.1(CC2D2A):c.1731G>T (p.Ser577=)
|
|
|
|
NM_001378615.1(CC2D2A):c.173del (p.Gly58fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1742G>C (p.Trp581Ser)
|
rs2109034111
|
|
|
NM_001378615.1(CC2D2A):c.174C>T (p.Gly58=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter)
|
rs980305935
|
|
|
NM_001378615.1(CC2D2A):c.1760T>A (p.Val587Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.1760T>C (p.Val587Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.1760del (p.Val587fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1764+10C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1764+13A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1764+17T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.1764+18C>T
|
rs1718172963
|
|
|
NM_001378615.1(CC2D2A):c.1765-10A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-12C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-13_1765-9del
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-17T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.1765-20T>C
|
rs1718218659
|
|
|
NM_001378615.1(CC2D2A):c.1765-24_1765-18del
|
|
|
|
NM_001378615.1(CC2D2A):c.1773GAA[2] (p.Lys594del)
|
rs886044115
|
|
|
NM_001378615.1(CC2D2A):c.1790_1809del (p.Gln597fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1797A>G (p.Ala599=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1798GAA[1] (p.Glu601del)
|
rs1363895451
|
|
|
NM_001378615.1(CC2D2A):c.179C>T (p.Pro60Leu)
|
rs566035797
|
|
|
NM_001378615.1(CC2D2A):c.1801G>T (p.Glu601Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.1804C>T (p.His602Tyr)
|
rs753430251
|
|
|
NM_001378615.1(CC2D2A):c.1812T>A (p.Gly604=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1812T>C (p.Gly604=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1824A>T (p.Ala608=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1850T>C (p.Val617Ala)
|
rs1718226237
|
|
|
NM_001378615.1(CC2D2A):c.1863T>A (p.Pro621=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1864C>G (p.Pro622Ala)
|
rs1718227512
|
|
|
NM_001378615.1(CC2D2A):c.1866A>C (p.Pro622=)
|
rs1560171734
|
|
|
NM_001378615.1(CC2D2A):c.1872C>T (p.Pro624=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1879C>T (p.Arg627Trp)
|
|
|
|
NM_001378615.1(CC2D2A):c.1883dup (p.Val629fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.1891G>C (p.Glu631Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.1895A>G (p.Gln632Arg)
|
rs777510836
|
|
|
NM_001378615.1(CC2D2A):c.1902G>A (p.Val634=)
|
rs1293349023
|
|
|
NM_001378615.1(CC2D2A):c.1910G>C (p.Arg637Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.1929G>A (p.Arg643=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg)
|
rs201884883
|
|
|
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)
|
rs201884883
|
|
|
NM_001378615.1(CC2D2A):c.1950G>A (p.Leu650=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1952T>C (p.Val651Ala)
|
rs762298895
|
|
|
NM_001378615.1(CC2D2A):c.1953C>G (p.Val651=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=)
|
rs550913315
|
|
|
NM_001378615.1(CC2D2A):c.1954C>T (p.Pro652Ser)
|
rs2109035370
|
|
|
NM_001378615.1(CC2D2A):c.1960C>G (p.Leu654Val)
|
rs2109035388
|
|
|
NM_001378615.1(CC2D2A):c.1977C>T (p.Ser659=)
|
rs2109035405
|
|
|
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)
|
rs16892134
|
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
|
NM_001378615.1(CC2D2A):c.1986C>G (p.Pro662=)
|
|
|
|
NM_001378615.1(CC2D2A):c.1998C>T (p.Cys666=)
|
|
|
|
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs)
|
rs1433294475
|
|
|
NM_001378615.1(CC2D2A):c.2003+12C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+15C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+16G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+19C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2003+20G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2004-1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2004-6T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2006C>A (p.Ala669Glu)
|
rs953243101
|
|
|
NM_001378615.1(CC2D2A):c.2010G>A (p.Glu670=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
|
NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2025G>T (p.Glu675Asp)
|
|
|
|
NM_001378615.1(CC2D2A):c.2040C>A (p.Arg680=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2040C>G (p.Arg680=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2043dup (p.Val682fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.2049C>T (p.Tyr683=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2058G>A (p.Val686=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2072AGG[1] (p.Glu692del)
|
rs1718395356
|
|
|
NM_001378615.1(CC2D2A):c.2076G>A (p.Glu692=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2079G>A (p.Val693=)
|
rs1348040937
|
|
|
NM_001378615.1(CC2D2A):c.2085G>A (p.Arg695=)
|
|
|
|
NM_001378615.1(CC2D2A):c.209C>T (p.Thr70Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2105G>T (p.Gly702Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.2105del (p.Gly702fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.2106A>G (p.Gly702=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2107G>A (p.Ala703Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2115C>T (p.Phe705=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2116C>T (p.Arg706Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2127T>C (p.Phe709=)
|
|
|
|
NM_001378615.1(CC2D2A):c.213C>A (p.Arg71=)
|
|
|
|
NM_001378615.1(CC2D2A):c.213C>G (p.Arg71=)
|
rs2108973641
|
|
|
NM_001378615.1(CC2D2A):c.2146C>T (p.Gln716Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2151A>G (p.Ile717Met)
|
|
|
|
NM_001378615.1(CC2D2A):c.2154C>T (p.Val718=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2163G>T (p.Pro721=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2170T>A (p.Leu724Ile)
|
rs1718404801
|
|
|
NM_001378615.1(CC2D2A):c.2174C>T (p.Thr725Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2175A>G (p.Thr725=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2178T>G (p.Leu726=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2180A>G (p.Gln727Arg)
|
rs2109038955
|
|
|
NM_001378615.1(CC2D2A):c.2181+15T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2181+17T>G
|
rs1016233369
|
|
|
NM_001378615.1(CC2D2A):c.2181+19G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2181+19G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2181+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2181+20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-11C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-11_2182-10del
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-3C>T
|
rs1560177957
|
|
|
NM_001378615.1(CC2D2A):c.2182-4T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-6T>G
|
rs1225693344
|
|
|
NM_001378615.1(CC2D2A):c.2182-8G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA
|
rs1560177950
|
|
|
NM_001378615.1(CC2D2A):c.2187T>C (p.Tyr729=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=)
|
rs764246302
|
|
|
NM_001378615.1(CC2D2A):c.2203A>T (p.Ser735Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.2208T>A (p.Ser736Arg)
|
rs2109050119
|
|
|
NM_001378615.1(CC2D2A):c.2209C>A (p.Pro737Thr)
|
rs1560177991
|
|
|
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs)
|
rs1471484901
|
|
|
NM_001378615.1(CC2D2A):c.2251A>C (p.Thr751Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.2253T>C (p.Thr751=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2259C>G (p.Val753=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2267G>C (p.Arg756Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2268G>A (p.Arg756=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2275A>C (p.Thr759Pro)
|
rs1226753536
|
|
|
NM_001378615.1(CC2D2A):c.2277T>C (p.Thr759=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2283A>C (p.Glu761Asp)
|
|
|
|
NM_001378615.1(CC2D2A):c.2287G>C (p.Glu763Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.2322C>T (p.His774=)
|
|
|
|
NM_001378615.1(CC2D2A):c.232C>T (p.Arg78Trp)
|
|
|
|
NM_001378615.1(CC2D2A):c.2336G>A (p.Ser779Asn)
|
rs2109050322
|
|
|
NM_001378615.1(CC2D2A):c.2338+14A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2338+14del
|
rs1560178133
|
|
|
NM_001378615.1(CC2D2A):c.2338+2T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2338+3A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2338+4T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-10G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-12G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-12G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-4C>A
|
rs2109052944
|
|
|
NM_001378615.1(CC2D2A):c.2339-4_2339-3dup
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-5C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-7del
|
|
|
|
NM_001378615.1(CC2D2A):c.2339-9T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2362G>C (p.Asp788His)
|
rs2109052993
|
|
|
NM_001378615.1(CC2D2A):c.2367C>A (p.Gly789=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2378T>G (p.Leu793Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.2380A>T (p.Thr794Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.2387T>C (p.Met796Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2397G>A (p.Gly799=)
|
rs1577370765
|
|
|
NM_001378615.1(CC2D2A):c.2398A>G (p.Lys800Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.2403G>A (p.Val801=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2410A>T (p.Ser804Cys)
|
rs745751160
|
|
|
NM_001378615.1(CC2D2A):c.2411G>A (p.Ser804Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.2414T>C (p.Val805Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.2415G>A (p.Val805=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2417del (p.Ala806fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.241C>G (p.Pro81Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.2425A>G (p.Ile809Val)
|
rs1719097213
|
|
|
NM_001378615.1(CC2D2A):c.2440A>G (p.Ile814Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.2445T>C (p.Pro815=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2452C>A (p.Pro818Thr)
|
rs1719099728
|
|
|
NM_001378615.1(CC2D2A):c.2456C>A (p.Pro819Gln)
|
rs1719100127
|
|
|
NM_001378615.1(CC2D2A):c.2458T>C (p.Leu820=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2469G>A (p.Gln823=)
|
|
|
|
NM_001378615.1(CC2D2A):c.246G>C (p.Arg82=)
|
|
|
|
NM_001378615.1(CC2D2A):c.247+12T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.247+13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.247+18A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.247+1G>A
|
rs765072583
|
|
|
NM_001378615.1(CC2D2A):c.247+9C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2472C>T (p.Asn824=)
|
|
|
|
NM_001378615.1(CC2D2A):c.248-16del
|
|
|
|
NM_001378615.1(CC2D2A):c.248-1G>A
|
rs2108998253
|
|
|
NM_001378615.1(CC2D2A):c.248-25TTTTGT[2]
|
|
|
|
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT
|
rs750398145
|
|
|
NM_001378615.1(CC2D2A):c.248-8T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2482C>A (p.Arg828=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp)
|
rs749997192
|
|
|
NM_001378615.1(CC2D2A):c.2484G>A (p.Arg828=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+13A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+17G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+5T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2486+9T>C
|
rs768382177
|
|
|
NM_001378615.1(CC2D2A):c.2487-3C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2487-4T>G
|
rs900632187
|
|
|
NM_001378615.1(CC2D2A):c.2487-7_2487-3del
|
|
|
|
NM_001378615.1(CC2D2A):c.2487-8C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2493G>A (p.Leu831=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2514A>G (p.Ser838=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2523C>T (p.Gly841=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2529A>C (p.Ser843=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2537C>A (p.Thr846Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.2537C>T (p.Thr846Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2549A>T (p.Lys850Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2551T>C (p.Leu851=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2554G>C (p.Ala852Pro)
|
rs2109055415
|
|
|
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter)
|
rs1560180188
|
|
|
NM_001378615.1(CC2D2A):c.2567C>A (p.Ala856Glu)
|
rs1719213816
|
|
|
NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.2575A>G (p.Lys859Glu)
|
rs770990150
|
|
|
NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.25A>T (p.Lys9Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2604C>A (p.Ala868=)
|
rs763477348
|
|
|
NM_001378615.1(CC2D2A):c.2604C>T (p.Ala868=)
|
rs763477348
|
|
|
NM_001378615.1(CC2D2A):c.2605C>T (p.Pro869Ser)
|
rs772863864
|
|
|
NM_001378615.1(CC2D2A):c.2610G>A (p.Leu870=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+12_2625+13insTCA
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+14G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+14_2625+19del
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+15_2625+24del
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+19A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+19A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+1G>A
|
rs1577372471
|
|
|
NM_001378615.1(CC2D2A):c.2625+2T>C
|
rs1449972974
|
|
|
NM_001378615.1(CC2D2A):c.2625+7A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+9C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2625+9C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=)
|
rs765873247
|
|
|
NM_001378615.1(CC2D2A):c.2626-18A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2626-4A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2626-6T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2634C>A (p.Thr878=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2637T>G (p.Ser879Arg)
|
rs2109058028
|
|
|
NM_001378615.1(CC2D2A):c.2640T>C (p.Gly880=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2649T>C (p.Tyr883=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2650del (p.Val884fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.2669T>G (p.Leu890Arg)
|
rs1719341621
|
|
|
NM_001378615.1(CC2D2A):c.2670G>A (p.Leu890=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2673G>A (p.Glu891=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
|
NM_001378615.1(CC2D2A):c.2687A>C (p.Glu896Ala)
|
rs1553838206
|
|
|
NM_001378615.1(CC2D2A):c.2688G>A (p.Glu896=)
|
rs2109058103
|
|
|
NM_001378615.1(CC2D2A):c.2708A>G (p.Gln903Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.2718T>C (p.Asn906=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2724C>T (p.Ser908=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)
|
rs781206278
|
|
|
NM_001378615.1(CC2D2A):c.2729G>A (p.Arg910Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly)
|
rs574421639
|
|
|
NM_001378615.1(CC2D2A):c.2737C>T (p.Leu913Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.2751A>C (p.Arg917Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.2752A>G (p.Ser918Gly)
|
rs2109058193
|
|
|
NM_001378615.1(CC2D2A):c.2772C>T (p.Phe924=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)
|
rs200707391
|
|
|
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.2796C>T (p.Val932=)
|
|
|
|
NM_001378615.1(CC2D2A):c.279A>T (p.Thr93=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2820G>C (p.Lys940Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.2829+15T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2829+18del
|
|
|
|
NM_001378615.1(CC2D2A):c.2829+20G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2829G>T (p.Gln943His)
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-16C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-18G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2830-8A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2835T>C (p.Tyr945=)
|
rs1719439232
|
|
|
NM_001378615.1(CC2D2A):c.2837A>G (p.Glu946Gly)
|
rs2109060095
|
|
|
NM_001378615.1(CC2D2A):c.2849G>A (p.Arg950Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.2853C>T (p.Asp951=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2859T>C (p.Asn953=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2871C>G (p.Thr957=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2874G>A (p.Lys958=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2875G>T (p.Glu959Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2875del (p.Glu959fs)
|
rs2109060174
|
|
|
NM_001378615.1(CC2D2A):c.2877A>G (p.Glu959=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2886C>T (p.Asp962=)
|
rs2109060199
|
|
|
NM_001378615.1(CC2D2A):c.2888C>T (p.Thr963Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.2892T>C (p.His964=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2895G>A (p.Arg965=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2898_2899dup (p.Ile967fs)
|
rs2109060214
|
|
|
NM_001378615.1(CC2D2A):c.2899A>G (p.Ile967Val)
|
rs895053103
|
|
|
NM_001378615.1(CC2D2A):c.28del (p.Lys9_Ile10insTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.2912A>G (p.Tyr971Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.2916C>G (p.Leu972=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2922+10dup
|
rs752271495
|
|
|
NM_001378615.1(CC2D2A):c.2922+13A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.2922+14T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2922+17A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2922+20A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-10C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-3del
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-5C>T
|
rs758867115
|
|
|
NM_001378615.1(CC2D2A):c.2923-6C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.2925T>C (p.Val975=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2927G>C (p.Arg976Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2928A>G (p.Arg976=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2934A>G (p.Ser978=)
|
|
|
|
NM_001378615.1(CC2D2A):c.293_299del (p.Glu97_Phe98insTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.294T>C (p.Phe98=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2961A>G (p.Lys987=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2964A>G (p.Gln988=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2970T>C (p.Phe990=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2977G>A (p.Ala993Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.2982T>C (p.Asp994=)
|
|
|
|
NM_001378615.1(CC2D2A):c.2984T>C (p.Met995Thr)
|
rs1719533280
|
|
|
NM_001378615.1(CC2D2A):c.2991A>G (p.Val997=)
|
rs2109061736
|
|
|
NM_001378615.1(CC2D2A):c.2993AAG[1] (p.Glu999_Glu1000del)
|
rs764874938
|
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
|
NM_001378615.1(CC2D2A):c.2999_3000inv (p.Glu1000Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+10A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+10del
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+11_3014+14del
|
rs1181395692
|
|
|
NM_001378615.1(CC2D2A):c.3014+16G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+18_3014+21del
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+19A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3014+24_3014+26del
|
rs780647289
|
|
|
NM_001378615.1(CC2D2A):c.3014+8T>C
|
rs1410013441
|
|
|
NM_001378615.1(CC2D2A):c.3014G>A (p.Ser1005Asn)
|
rs1719535877
|
|
|
NM_001378615.1(CC2D2A):c.3015-14T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3015-19C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3015-1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3015-5A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3015-8A>G
|
rs2109065118
|
|
|
NM_001378615.1(CC2D2A):c.3017T>A (p.Ile1006Asn)
|
rs754619415
|
|
|
NM_001378615.1(CC2D2A):c.3026T>C (p.Leu1009Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.3040_3041delinsGG (p.Leu1014Gly)
|
rs2109065185
|
|
|
NM_001378615.1(CC2D2A):c.3049C>T (p.Gln1017Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.304G>C (p.Gly102Arg)
|
rs1278804341
|
|
|
NM_001378615.1(CC2D2A):c.304G>T (p.Gly102Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3064C>A (p.Arg1022=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3064C>T (p.Arg1022Trp)
|
rs751865030
|
|
|
NM_001378615.1(CC2D2A):c.3066G>A (p.Arg1022=)
|
rs2109065234
|
|
|
NM_001378615.1(CC2D2A):c.306dup (p.Arg103fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3075A>G (p.Arg1025=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3079G>T (p.Gly1027Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3083G>A (p.Arg1028Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)
|
rs386833749
|
|
|
NM_001378615.1(CC2D2A):c.3104A>T (p.Asn1035Ile)
|
rs2109065297
|
|
|
NM_001378615.1(CC2D2A):c.311T>C (p.Met104Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3122T>G (p.Ile1041Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.312G>T (p.Met104Ile)
|
rs753884581
|
|
|
NM_001378615.1(CC2D2A):c.3133G>A (p.Val1045Met)
|
rs1473580177
|
|
|
NM_001378615.1(CC2D2A):c.3140T>C (p.Ile1047Thr)
|
rs778559564
|
|
|
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=)
|
rs386833750
|
|
|
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)
|
rs386833750
|
|
|
NM_001378615.1(CC2D2A):c.3147A>G (p.Arg1049=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3155A>G (p.Asp1052Gly)
|
|
|
|
NM_001378615.1(CC2D2A):c.3157A>C (p.Ile1053Leu)
|
rs148194457
|
|
|
NM_001378615.1(CC2D2A):c.3159T>G (p.Ile1053Met)
|
|
|
|
NM_001378615.1(CC2D2A):c.315G>A (p.Arg105=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3160C>T (p.Pro1054Ser)
|
rs1719718448
|
|
|
NM_001378615.1(CC2D2A):c.3164T>C (p.Val1055Ala)
|
rs2109065394
|
|
|
NM_001378615.1(CC2D2A):c.3177A>G (p.Ala1059=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3178G>T (p.Val1060Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.3180G>A (p.Val1060=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3182+10C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3182+13C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3182+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3182+5G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3183-12T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3183-1G>T
|
rs1719930798
|
|
|
NM_001378615.1(CC2D2A):c.3183-20T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3183-5C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3183-5C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3207T>G (p.Ser1069=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3213G>A (p.Arg1071=)
|
rs2109070172
|
|
|
NM_001378615.1(CC2D2A):c.3229C>G (p.His1077Asp)
|
rs2109070180
|
|
|
NM_001378615.1(CC2D2A):c.322T>C (p.Leu108=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3230A>G (p.His1077Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.3233C>T (p.Ala1078Val)
|
rs1437673943
|
|
|
NM_001378615.1(CC2D2A):c.3236C>T (p.Ala1079Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.3267T>C (p.Asn1089=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3276C>A (p.Tyr1092Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3276C>T (p.Tyr1092=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3279C>T (p.Pro1093=)
|
rs1302080963
|
|
|
NM_001378615.1(CC2D2A):c.3282C>G (p.Leu1094=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser)
|
rs181260724
|
|
|
NM_001378615.1(CC2D2A):c.3283G>T (p.Gly1095Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3288+12T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3288+12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3288+16C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3288+5G>A
|
rs1719939393
|
|
|
NM_001378615.1(CC2D2A):c.3288+9T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)
|
rs863225169
|
|
|
NM_001378615.1(CC2D2A):c.3289-15G>C
|
rs2109070538
|
|
|
NM_001378615.1(CC2D2A):c.3289-2del
|
rs774235067
|
|
|
NM_001378615.1(CC2D2A):c.3291_3296del (p.Leu1098_Val1099del)
|
rs1307456757
|
|
|
NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter)
|
rs1719950579
|
|
|
NM_001378615.1(CC2D2A):c.3295G>A (p.Val1099Ile)
|
rs1349492467
|
|
|
NM_001378615.1(CC2D2A):c.3295G>T (p.Val1099Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.3298C>A (p.Arg1100Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.3303C>G (p.Pro1101=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys)
|
rs2109070604
|
|
|
NM_001378615.1(CC2D2A):c.3311A>G (p.Glu1104Gly)
|
rs2109070607
|
|
|
NM_001378615.1(CC2D2A):c.3313G>A (p.Val1105Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.3320_3321del (p.Phe1107fs)
|
rs2109070615
|
|
|
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)
|
rs753770061
|
|
|
NM_001378615.1(CC2D2A):c.3334T>G (p.Cys1112Gly)
|
rs754824046
|
|
|
NM_001378615.1(CC2D2A):c.3336C>A (p.Cys1112Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3336C>T (p.Cys1112=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3342G>A (p.Thr1114=)
|
|
|
|
NM_001378615.1(CC2D2A):c.334A>C (p.Arg112=)
|
rs2108998391
|
|
|
NM_001378615.1(CC2D2A):c.336+14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.336+15A>G
|
rs2108998411
|
|
|
NM_001378615.1(CC2D2A):c.336+17G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.336+19A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.336+20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.336+3GA[2]
|
|
|
|
NM_001378615.1(CC2D2A):c.3360A>G (p.Pro1120=)
|
rs2109070685
|
|
|
NM_001378615.1(CC2D2A):c.3363C>A (p.Asn1121Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
|
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg)
|
rs886059182
|
|
|
NM_001378615.1(CC2D2A):c.3368G>C (p.Ser1123Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3369C>T (p.Ser1123=)
|
|
|
|
NM_001378615.1(CC2D2A):c.337-12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.337-14G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.337-18T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.337-2A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.337-7T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3398+18T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3398+19T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3398+7A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3398+7del
|
|
|
|
NM_001378615.1(CC2D2A):c.3398+9A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3399-12G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3399-12G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3399-14G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3399-1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3399-3C>A
|
rs386833753
|
|
|
NM_001378615.1(CC2D2A):c.3405T>C (p.Pro1135=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3418_3425del (p.Ser1140fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3425C>G (p.Ala1142Gly)
|
rs1252635827
|
|
|
NM_001378615.1(CC2D2A):c.3426C>T (p.Ala1142=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3435G>C (p.Gln1145His)
|
rs1479626818
|
|
|
NM_001378615.1(CC2D2A):c.3445G>A (p.Asp1149Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.3447T>A (p.Asp1149Glu)
|
rs772795748
|
|
|
NM_001378615.1(CC2D2A):c.3447T>C (p.Asp1149=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3447TGT[1] (p.Val1151del)
|
|
|
|
NM_001378615.1(CC2D2A):c.3453G>A (p.Val1151=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3456C>T (p.Phe1152=)
|
rs2109072690
|
|
|
NM_001378615.1(CC2D2A):c.3465T>A (p.Ile1155=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3468dup (p.Asp1157Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3469_3476del (p.Asp1157fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3471T>C (p.Asp1157=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3478C>T (p.Leu1160=)
|
rs776074900
|
|
|
NM_001378615.1(CC2D2A):c.3480G>A (p.Leu1160=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3483T>G (p.His1161Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.3485A>C (p.Asp1162Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.3486T>C (p.Asp1162=)
|
|
|
|
NM_001378615.1(CC2D2A):c.348A>G (p.Glu116=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3490T>C (p.Leu1164=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3495+11A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3495+11A>G
|
rs2109072768
|
|
|
NM_001378615.1(CC2D2A):c.3495+12G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3495+15T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3495+20A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3496-11C>A
|
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|
|
NM_001378615.1(CC2D2A):c.3496-11C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3496-14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3496-15C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3496-18T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3496-19C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3496-20A>G
|
rs1720099977
|
|
|
NM_001378615.1(CC2D2A):c.3496-7C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3496-8del
|
|
|
|
NM_001378615.1(CC2D2A):c.3505G>T (p.Glu1169Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3519A>T (p.Gly1173=)
|
rs2109073915
|
|
|
NM_001378615.1(CC2D2A):c.3527C>A (p.Thr1176Asn)
|
rs754966579
|
|
|
NM_001378615.1(CC2D2A):c.3527C>T (p.Thr1176Ile)
|
rs754966579
|
|
|
NM_001378615.1(CC2D2A):c.352G>A (p.Ala118Thr)
|
rs1214212437
|
|
|
NM_001378615.1(CC2D2A):c.3530G>A (p.Arg1177His)
|
rs1409338849
|
|
|
NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3538A>T (p.Arg1180Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.353C>G (p.Ala118Gly)
|
|
|
|
NM_001378615.1(CC2D2A):c.3548T>A (p.Leu1183Gln)
|
rs2109073973
|
|
|
NM_001378615.1(CC2D2A):c.354A>G (p.Ala118=)
|
|
|
|
NM_001378615.1(CC2D2A):c.354A>T (p.Ala118=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3554G>A (p.Cys1185Tyr)
|
rs1720105141
|
|
|
NM_001378615.1(CC2D2A):c.3562A>G (p.Met1188Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.3565C>T (p.Pro1189Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.3567A>G (p.Pro1189=)
|
rs1553841140
|
|
|
NM_001378615.1(CC2D2A):c.356T>A (p.Leu119Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3576A>G (p.Thr1192=)
|
rs953629205
|
|
|
NM_001378615.1(CC2D2A):c.357G>A (p.Leu119=)
|
|
|
|
NM_001378615.1(CC2D2A):c.357G>C (p.Leu119Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.3585C>T (p.Phe1195=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs)
|
rs982352950
|
|
|
NM_001378615.1(CC2D2A):c.3594+11A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3594+14G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3594+9C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-13A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-15A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-15A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-1G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-4A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3595-5C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.35_36del (p.Thr12fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3605C>T (p.Thr1202Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.3616G>T (p.Asp1206Tyr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3620T>C (p.Ile1207Thr)
|
rs2109077863
|
|
|
NM_001378615.1(CC2D2A):c.3638del (p.Gly1213fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.363G>A (p.Gln121=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3640_3643dup (p.Ser1215fs)
|
rs2109077880
|
|
|
NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg)
|
rs765661601
|
|
|
NM_001378615.1(CC2D2A):c.3648G>A (p.Lys1216=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3649G>A (p.Glu1217Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter)
|
rs375278294
|
|
|
NM_001378615.1(CC2D2A):c.3653G>A (p.Arg1218Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.3672G>A (p.Arg1224=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3684T>C (p.Ser1228=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3685G>T (p.Val1229Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.3689G>A (p.Arg1230Gln)
|
rs778082588
|
|
|
NM_001378615.1(CC2D2A):c.369C>A (p.Ile123=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3707_3709dup (p.Ser1236dup)
|
rs1720298896
|
|
|
NM_001378615.1(CC2D2A):c.3711C>T (p.Tyr1237=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3717C>G (p.Thr1239=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3725T>C (p.Ile1242Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3732T>C (p.Ile1244=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3734_3744del (p.Glu1245fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3739C>T (p.Gln1247Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3744G>A (p.Leu1248=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs)
|
rs863225171
|
|
|
NM_001378615.1(CC2D2A):c.3762del (p.Arg1255fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3764G>A (p.Arg1255Gln)
|
|
|
|
NM_001378615.1(CC2D2A):c.3770del (p.Lys1257fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+13A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+16T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+7A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3771+8C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-10C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-11dup
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-14C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-16G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3772-7T>C
|
rs2109083258
|
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
|
NM_001378615.1(CC2D2A):c.3777G>A (p.Glu1259=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3779C>T (p.Ser1260Phe)
|
rs759726075
|
|
|
NM_001378615.1(CC2D2A):c.3780T>A (p.Ser1260=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3783G>A (p.Gln1261=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3789T>C (p.Asp1263=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3790G>A (p.Glu1264Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3799C>G (p.Leu1267Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.3803_3804del (p.Gln1268fs)
|
rs2109083312
|
|
|
NM_001378615.1(CC2D2A):c.3805G>A (p.Ala1269Thr)
|
rs753246574
|
|
|
NM_001378615.1(CC2D2A):c.3810T>A (p.Thr1270=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3810_3811del (p.Lys1272fs)
|
rs1312758061
|
|
|
NM_001378615.1(CC2D2A):c.3814A>G (p.Lys1272Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.3820C>T (p.Gln1274Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.3834C>G (p.Ala1278=)
|
rs751897663
|
|
|
NM_001378615.1(CC2D2A):c.3834C>T (p.Ala1278=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3837A>G (p.Leu1279=)
|
rs1560192604
|
|
|
NM_001378615.1(CC2D2A):c.384del (p.Arg129fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3856T>C (p.Cys1286Arg)
|
rs1347377004
|
|
|
NM_001378615.1(CC2D2A):c.3861T>G (p.Leu1287=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3870A>G (p.Val1290=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3873T>C (p.Ile1291=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3873T>G (p.Ile1291Met)
|
|
|
|
NM_001378615.1(CC2D2A):c.3878T>C (p.Ile1293Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.3882C>T (p.Ser1294=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3885A>G (p.Gly1295=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3889_3890delinsCG (p.Thr1297Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.3891T>G (p.Thr1297=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs)
|
rs763735590
|
|
|
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp)
|
rs386833758
|
|
|
NM_001378615.1(CC2D2A):c.3896_3920del (p.Val1298_Phe1299insTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.3897del (p.Phe1299fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.39+10C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.39+16G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.39+20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.39+6T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3900C>T (p.Ile1300=)
|
rs2109083429
|
|
|
NM_001378615.1(CC2D2A):c.3902C>T (p.Thr1301Ile)
|
|
|
|
NM_001378615.1(CC2D2A):c.3904C>T (p.Arg1302Cys)
|
rs1398696429
|
|
|
NM_001378615.1(CC2D2A):c.3905G>A (p.Arg1302His)
|
rs988477564
|
|
|
NM_001378615.1(CC2D2A):c.390C>T (p.Arg130=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3919T>C (p.Leu1307=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3924C>A (p.Asn1308Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3927T>G (p.Pro1309=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu)
|
rs1720595936
|
|
|
NM_001378615.1(CC2D2A):c.3936G>A (p.Glu1312=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3943A>T (p.Asn1315Tyr)
|
|
|
|
NM_001378615.1(CC2D2A):c.394C>A (p.Arg132=)
|
|
|
|
NM_001378615.1(CC2D2A):c.3953C>G (p.Pro1318Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.3957T>C (p.Asn1319=)
|
rs2109083467
|
|
|
NM_001378615.1(CC2D2A):c.395G>A (p.Arg132Gln)
|
rs772016081
|
|
|
NM_001378615.1(CC2D2A):c.3975+11C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+12A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+17C>G
|
rs2109083516
|
|
|
NM_001378615.1(CC2D2A):c.3975+19del
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+19dup
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+1G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+2T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.3975+4_3975+7del
|
rs386833759
|
|
|
NM_001378615.1(CC2D2A):c.3975+8T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3976-14T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3976-19G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.3976-3C>A
|
rs576298659
|
|
|
NM_001378615.1(CC2D2A):c.3976-3C>T
|
rs576298659
|
|
|
NM_001378615.1(CC2D2A):c.3976-5T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.3978A>C (p.Glu1326Asp)
|
|
|
|
NM_001378615.1(CC2D2A):c.3984G>A (p.Val1328=)
|
|
|
|
NM_001378615.1(CC2D2A):c.398G>A (p.Ser133Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.3993T>C (p.Tyr1331=)
|
|
|
|
NM_001378615.1(CC2D2A):c.40-13C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.40-18T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4001T>C (p.Leu1334Ser)
|
rs1577396363
|
|
|
NM_001378615.1(CC2D2A):c.4014G>A (p.Leu1338=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4015C>T (p.Pro1339Ser)
|
rs781057021
|
|
|
NM_001378615.1(CC2D2A):c.4023T>C (p.Thr1341=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4037G>C (p.Gly1346Ala)
|
rs1720849726
|
|
|
NM_001378615.1(CC2D2A):c.4037G>T (p.Gly1346Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.4050C>G (p.Leu1350=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4059A>G (p.Thr1353=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+10_4065+11delinsAG
|
rs2109088612
|
|
|
NM_001378615.1(CC2D2A):c.4065+11C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+12T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+18A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+2T>C
|
rs1179041639
|
|
|
NM_001378615.1(CC2D2A):c.4065+6T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+8G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4065+9TTC[2]
|
rs755600533
|
|
|
NM_001378615.1(CC2D2A):c.4066-10T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-11C>A
|
rs1412529846
|
|
|
NM_001378615.1(CC2D2A):c.4066-11_4066-10del
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-11_4066-8del
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-12del
|
rs752759735
|
|
|
NM_001378615.1(CC2D2A):c.4066-16T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-1G>A
|
rs867390302
|
|
|
NM_001378615.1(CC2D2A):c.4066-20T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4066-20T>G
|
rs1174030292
|
|
|
NM_001378615.1(CC2D2A):c.4067A>G (p.Gln1356Arg)
|
rs771460583
|
|
|
NM_001378615.1(CC2D2A):c.4068A>C (p.Gln1356His)
|
|
|
|
NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs)
|
rs1313708855
|
|
|
NM_001378615.1(CC2D2A):c.4086del (p.Asp1364fs)
|
rs2109090291
|
|
|
NM_001378615.1(CC2D2A):c.408G>A (p.Lys136=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4090G>A (p.Asp1364Asn)
|
rs768130176
|
|
|
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)
|
rs557038070
|
|
|
NM_001378615.1(CC2D2A):c.4098del (p.Glu1367fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.40G>A (p.Glu14Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.4104T>C (p.His1368=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4111C>T (p.Leu1371=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4114T>C (p.Leu1372=)
|
|
|
|
NM_001378615.1(CC2D2A):c.411_414del (p.Lys137fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4125C>T (p.Tyr1375=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4126T>C (p.Phe1376Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.4127_4130del (p.Phe1376fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4128T>C (p.Phe1376=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4130T>C (p.Leu1377Pro)
|
rs2109090351
|
|
|
NM_001378615.1(CC2D2A):c.4139G>A (p.Gly1380Asp)
|
rs1271963891
|
|
|
NM_001378615.1(CC2D2A):c.4144_4145delinsGC (p.Lys1382Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.4149C>G (p.Ala1383=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4160T>C (p.Met1387Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.4171A>T (p.Ile1391Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.4179+12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4179+17T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4179+19C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4179+1G>A
|
rs886044295
|
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
|
NM_001378615.1(CC2D2A):c.4179+8C>A
|
rs2109090417
|
|
|
NM_001378615.1(CC2D2A):c.4179+8C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.4180-20T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4186A>G (p.Thr1396Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.4189G>C (p.Ala1397Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.418_419insGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATCTCCATCTGAGGTACCGGGTTCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGAATTGG (p.Glu140delinsGlyGlyArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.4191C>G (p.Ala1397=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4193_4194dup (p.Val1399fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4203T>G (p.Thr1401=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4206G>C (p.Trp1402Cys)
|
rs1720998794
|
|
|
NM_001378615.1(CC2D2A):c.4209G>A (p.Glu1403=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4216C>T (p.Arg1406Cys)
|
|
|
|
NM_001378615.1(CC2D2A):c.4221T>C (p.Tyr1407=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4222T>C (p.Leu1408=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4228T>C (p.Trp1410Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.4229G>A (p.Trp1410Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4233T>A (p.Asn1411Lys)
|
rs1721000269
|
|
|
NM_001378615.1(CC2D2A):c.4234C>T (p.Pro1412Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.4240A>G (p.Ser1414Gly)
|
|
|
|
NM_001378615.1(CC2D2A):c.4241G>A (p.Ser1414Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.4244G>T (p.Gly1415Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.4246C>A (p.His1416Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.4248T>C (p.His1416=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4254T>A (p.Tyr1418Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4254T>C (p.Tyr1418=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)
|
rs772110399
|
|
|
NM_001378615.1(CC2D2A):c.4273T>C (p.Cys1425Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.4287T>C (p.Asn1429=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)
|
rs863225168
|
|
|
NM_001378615.1(CC2D2A):c.4290G>A (p.Val1430=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4295_4298del (p.Gly1431_Cys1432insTer)
|
rs1560196436
|
|
|
NM_001378615.1(CC2D2A):c.429T>C (p.Phe143=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4303_4314+1del
|
|
|
|
NM_001378615.1(CC2D2A):c.4305T>A (p.Gly1435=)
|
rs1721005215
|
|
|
NM_001378615.1(CC2D2A):c.4314+13A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4314+7A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4315-15T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4315-16G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4315-19G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4315-6_4315-3del
|
rs926806639
|
|
|
NM_001378615.1(CC2D2A):c.4315-7T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4320G>A (p.Trp1440Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.432C>G (p.Gly144=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4335A>G (p.Arg1445=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4351A>C (p.Arg1451=)
|
|
|
|
NM_001378615.1(CC2D2A):c.436G>T (p.Glu146Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4374G>C (p.Arg1458Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.438+12C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.438+15_438+18del
|
rs1716044858
|
|
|
NM_001378615.1(CC2D2A):c.438+1G>T
|
rs1453265480
|
|
|
NM_001378615.1(CC2D2A):c.438+20C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.438G>A (p.Glu146=)
|
rs1215345163
|
|
|
NM_001378615.1(CC2D2A):c.439-13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.439-13del
|
|
|
|
NM_001378615.1(CC2D2A):c.439-16T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.439-20del
|
|
|
|
NM_001378615.1(CC2D2A):c.439-5T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.439-5_492dup
|
|
|
|
NM_001378615.1(CC2D2A):c.439-6A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.439-8T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.439-8T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.439-9C>T
|
rs747673081
|
|
|
NM_001378615.1(CC2D2A):c.4393T>G (p.Phe1465Val)
|
|
|
|
NM_001378615.1(CC2D2A):c.4407C>T (p.Ser1469=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4419T>C (p.Pro1473=)
|
|
|
|
NM_001378615.1(CC2D2A):c.441A>G (p.Pro147=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4425T>C (p.Leu1475=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4428C>T (p.Ser1476=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4434T>A (p.Val1478=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+12T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+4T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+6A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+7del
|
|
|
|
NM_001378615.1(CC2D2A):c.4437+8T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4437G>A (p.Gln1479=)
|
rs878854168
|
|
|
NM_001378615.1(CC2D2A):c.4437G>C (p.Gln1479His)
|
rs878854168
|
|
|
NM_001378615.1(CC2D2A):c.4438-18C>A
|
|
|
|
NM_001378615.1(CC2D2A):c.4438-20A>T
|
|
|
|
NM_001378615.1(CC2D2A):c.4438-5T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4440del (p.Glu1481fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4455C>A (p.Tyr1485Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4460G>T (p.Arg1487Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.4464A>T (p.Ser1488=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4465G>C (p.Asp1489His)
|
|
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
|
NM_001378615.1(CC2D2A):c.4471dup (p.Ala1491fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4491A>G (p.Gln1497=)
|
rs863225179
|
|
|
NM_001378615.1(CC2D2A):c.4492G>C (p.Asp1498His)
|
|
|
|
NM_001378615.1(CC2D2A):c.4494C>T (p.Asp1498=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+15A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+16T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+20T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+5C>T
|
rs1721369264
|
|
|
NM_001378615.1(CC2D2A):c.4496+6A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4496+7T>C
|
rs1721369727
|
|
|
NM_001378615.1(CC2D2A):c.4497-15A>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4497-15_4497-14del
|
rs2148495845
|
|
|
NM_001378615.1(CC2D2A):c.4497-19del
|
|
|
|
NM_001378615.1(CC2D2A):c.4497-6G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.4497-9T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4506A>C (p.Lys1502Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.4507dup (p.Ile1503fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4513A>T (p.Lys1505Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4522A>C (p.Ile1508Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs)
|
rs775292940
|
|
|
NM_001378615.1(CC2D2A):c.4522dup (p.Ile1508fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.4536G>A (p.Arg1512=)
|
|
|
|
NM_001378615.1(CC2D2A):c.453A>G (p.Val151=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4542C>A (p.Arg1514=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4544A>G (p.His1515Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.4545T>C (p.His1515=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4550C>T (p.Thr1517Ile)
|
rs780673487
|
|
|
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)
|
rs767260373
|
|
|
NM_001378615.1(CC2D2A):c.4554G>C (p.Arg1518=)
|
rs755691801
|
|
|
NM_001378615.1(CC2D2A):c.4569T>A (p.Cys1523Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4569T>C (p.Cys1523=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.4594_4624del (p.Leu1531_Pro1532insTer)
|
|
|
|
NM_001378615.1(CC2D2A):c.4601T>C (p.Leu1534Ser)
|
rs2148495981
|
|
|
NM_001378615.1(CC2D2A):c.4602A>G (p.Leu1534=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4624G>A (p.Val1542Ile)
|
rs1721490248
|
|
|
NM_001378615.1(CC2D2A):c.4625T>C (p.Val1542Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.4632T>C (p.Asp1544=)
|
|
|
|
NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4654A>C (p.Lys1552Gln)
|
rs2148496033
|
|
|
NM_001378615.1(CC2D2A):c.4654A>T (p.Lys1552Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4655_4656dup (p.Gln1553fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.465A>G (p.Gln155=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4666G>C (p.Asp1556His)
|
rs1721493626
|
|
|
NM_001378615.1(CC2D2A):c.4671C>A (p.Tyr1557Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4672A>C (p.Arg1558=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4674+12A>G
|
rs2148496063
|
|
|
NM_001378615.1(CC2D2A):c.4674+19C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4674+6T>C
|
rs1340397034
|
|
|
NM_001378615.1(CC2D2A):c.4675-10T>A
|
rs2148497339
|
|
|
NM_001378615.1(CC2D2A):c.4675-11T>C
|
rs1242070238
|
|
|
NM_001378615.1(CC2D2A):c.4675-13T>C
|
|
|
|
NM_001378615.1(CC2D2A):c.4675-19A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.4675-9dup
|
|
|
|
NM_001378615.1(CC2D2A):c.4679C>T (p.Ser1560Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.467_468insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGGACTCAACA (p.Gln156_Glu157insAlaGlyArgGlyGlySerArgLeuTer)
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|
NM_001378615.1(CC2D2A):c.4682dup (p.Phe1562fs)
|
rs1553845917
|
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|
NM_001378615.1(CC2D2A):c.4690C>T (p.Leu1564Phe)
|
rs1441082551
|
|
|
NM_001378615.1(CC2D2A):c.4699C>T (p.Pro1567Ser)
|
rs2148497378
|
|
|
NM_001378615.1(CC2D2A):c.469G>T (p.Glu157Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4704T>C (p.Tyr1568=)
|
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|
NM_001378615.1(CC2D2A):c.4705T>G (p.Ser1569Ala)
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|
NM_001378615.1(CC2D2A):c.4708G>T (p.Glu1570Ter)
|
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|
|
NM_001378615.1(CC2D2A):c.4718C>T (p.Pro1573Leu)
|
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|
NM_001378615.1(CC2D2A):c.4725T>C (p.Ile1575=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=)
|
rs774919996
|
|
|
NM_001378615.1(CC2D2A):c.4731T>C (p.Ala1577=)
|
|
|
|
NM_001378615.1(CC2D2A):c.4733T>C (p.Val1578Ala)
|
rs2148497423
|
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NM_001378615.1(CC2D2A):c.4736A>G (p.Tyr1579Cys)
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|
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|
NM_001378615.1(CC2D2A):c.4740T>C (p.Ser1580=)
|
rs759221177
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|
NM_001378615.1(CC2D2A):c.4746A>C (p.Gly1582=)
|
rs2148497436
|
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NM_001378615.1(CC2D2A):c.4746_4747dup (p.Val1583fs)
|
rs1721586115
|
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NM_001378615.1(CC2D2A):c.4752T>C (p.His1584=)
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NM_001378615.1(CC2D2A):c.4757T>A (p.Ile1586Asn)
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NM_001378615.1(CC2D2A):c.4767T>C (p.Pro1589=)
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NM_001378615.1(CC2D2A):c.4773T>C (p.Val1591=)
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NM_001378615.1(CC2D2A):c.477C>T (p.Asp159=)
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|
NM_001378615.1(CC2D2A):c.4808C>G (p.Pro1603Arg)
|
rs2148497490
|
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NM_001378615.1(CC2D2A):c.4811A>G (p.Lys1604Arg)
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|
NM_001378615.1(CC2D2A):c.4819T>C (p.Leu1607=)
|
rs1197953378
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NM_001378615.1(CC2D2A):c.4819_4820del (p.Leu1607fs)
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NM_001378615.1(CC2D2A):c.4835A>G (p.Tyr1612Cys)
|
rs368070611
|
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|
NM_001378615.1(CC2D2A):c.4836T>C (p.Tyr1612=)
|
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|
|
NM_001378615.1(CC2D2A):c.483A>C (p.Gln161His)
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|
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)
|
rs863225175
|
|
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NM_001378615.1(CC2D2A):c.4847T>A (p.Leu1616His)
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|
NM_001378615.1(CC2D2A):c.4848T>C (p.Leu1616=)
|
rs1396115620
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NM_001378615.1(CC2D2A):c.4848T>G (p.Leu1616=)
|
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|
NM_001378615.1(CC2D2A):c.4852C>A (p.Arg1618Ser)
|
rs201219078
|
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|
NM_001378615.1(CC2D2A):c.4852C>G (p.Arg1618Gly)
|
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|
|
NM_001378615.1(CC2D2A):c.4854C>A (p.Arg1618=)
|
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|
|
NM_001378615.1(CC2D2A):c.4863A>G (p.Ter1621=)
|
|
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|
NM_001378615.1(CC2D2A):c.48T>C (p.Ile16=)
|
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|
|
NM_001378615.1(CC2D2A):c.494G>A (p.Arg165Lys)
|
rs911542623
|
|
|
NM_001378615.1(CC2D2A):c.495A>G (p.Arg165=)
|
|
|
|
NM_001378615.1(CC2D2A):c.501G>A (p.Lys167=)
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|
NM_001378615.1(CC2D2A):c.503T>C (p.Phe168Ser)
|
rs1226794909
|
|
|
NM_001378615.1(CC2D2A):c.505C>T (p.His169Tyr)
|
rs1716491115
|
|
|
NM_001378615.1(CC2D2A):c.507T>C (p.His169=)
|
|
|
|
NM_001378615.1(CC2D2A):c.523del (p.Ile175fs)
|
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|
NM_001378615.1(CC2D2A):c.534del (p.Lys178fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.540+10C>G
|
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|
NM_001378615.1(CC2D2A):c.540+13G>T
|
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|
NM_001378615.1(CC2D2A):c.540+17T>C
|
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|
NM_001378615.1(CC2D2A):c.540+18T>C
|
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|
NM_001378615.1(CC2D2A):c.540+1G>A
|
rs1296652053
|
|
|
NM_001378615.1(CC2D2A):c.540+20A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.540+4A>G
|
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|
NM_001378615.1(CC2D2A):c.540+5G>C
|
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|
NM_001378615.1(CC2D2A):c.541-11C>G
|
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|
NM_001378615.1(CC2D2A):c.541-12G>A
|
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|
NM_001378615.1(CC2D2A):c.541-16C>T
|
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|
|
NM_001378615.1(CC2D2A):c.541-18C>T
|
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|
|
NM_001378615.1(CC2D2A):c.541-1G>A
|
rs1716552711
|
|
|
NM_001378615.1(CC2D2A):c.541-3T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.541-5G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.541-9T>A
|
rs1434091819
|
|
|
NM_001378615.1(CC2D2A):c.543T>A (p.Val181=)
|
|
|
|
NM_001378615.1(CC2D2A):c.54T>C (p.Asn18=)
|
|
|
|
NM_001378615.1(CC2D2A):c.551G>C (p.Gly184Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.552C>A (p.Gly184=)
|
|
|
|
NM_001378615.1(CC2D2A):c.555C>T (p.Phe185=)
|
|
|
|
NM_001378615.1(CC2D2A):c.556C>G (p.Pro186Ala)
|
|
|
|
NM_001378615.1(CC2D2A):c.558T>C (p.Pro186=)
|
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|
|
NM_001378615.1(CC2D2A):c.574T>A (p.Tyr192Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.58G>A (p.Glu20Lys)
|
rs1714407144
|
|
|
NM_001378615.1(CC2D2A):c.596T>C (p.Phe199Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.5A>G (p.Asn2Ser)
|
|
|
|
NM_001378615.1(CC2D2A):c.602C>G (p.Pro201Arg)
|
|
|
|
NM_001378615.1(CC2D2A):c.609A>G (p.Pro203=)
|
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|
|
NM_001378615.1(CC2D2A):c.612A>G (p.Glu204=)
|
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|
|
NM_001378615.1(CC2D2A):c.615A>T (p.Gly205=)
|
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|
|
NM_001378615.1(CC2D2A):c.618A>C (p.Ser206=)
|
|
|
|
NM_001378615.1(CC2D2A):c.630A>G (p.Pro210=)
|
|
|
|
NM_001378615.1(CC2D2A):c.635C>A (p.Ala212Glu)
|
|
|
|
NM_001378615.1(CC2D2A):c.639A>G (p.Arg213=)
|
rs750290771
|
|
|
NM_001378615.1(CC2D2A):c.63T>C (p.Asp21=)
|
rs1714407530
|
|
|
NM_001378615.1(CC2D2A):c.644G>C (p.Arg215Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro)
|
|
|
|
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)
|
rs746415983
|
|
|
NM_001378615.1(CC2D2A):c.663GGA[2] (p.Glu224del)
|
rs1553825978
|
|
|
NM_001378615.1(CC2D2A):c.664G>A (p.Glu222Lys)
|
rs2109007768
|
|
|
NM_001378615.1(CC2D2A):c.669G>A (p.Glu223=)
|
|
|
|
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)
|
rs1716561509
|
|
|
NM_001378615.1(CC2D2A):c.676G>T (p.Glu226Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
|
NM_001378615.1(CC2D2A):c.693T>G (p.Pro231=)
|
|
|
|
NM_001378615.1(CC2D2A):c.708A>T (p.Gly236=)
|
rs1716563559
|
|
|
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.717+12C>G
|
|
|
|
NM_001378615.1(CC2D2A):c.717+12C>T
|
rs776829032
|
|
|
NM_001378615.1(CC2D2A):c.717+13A>G
|
rs2109007872
|
|
|
NM_001378615.1(CC2D2A):c.717+15G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.717+18G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.717+19G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.717+1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.717+1G>T
|
rs1027674181
|
|
|
NM_001378615.1(CC2D2A):c.718-12A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.718-18C>T
|
|
|
|
NM_001378615.1(CC2D2A):c.718-19A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.718-1G>C
|
|
|
|
NM_001378615.1(CC2D2A):c.718-20T>C
|
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|
|
NM_001378615.1(CC2D2A):c.718-4G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.718-5T>C
|
rs1004108988
|
|
|
NM_001378615.1(CC2D2A):c.718-9A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.726A>G (p.Glu242=)
|
|
|
|
NM_001378615.1(CC2D2A):c.729A>G (p.Glu243=)
|
|
|
|
NM_001378615.1(CC2D2A):c.733C>T (p.Leu245Phe)
|
|
|
|
NM_001378615.1(CC2D2A):c.747T>C (p.Asp249=)
|
|
|
|
NM_001378615.1(CC2D2A):c.750C>A (p.Ala250=)
|
|
|
|
NM_001378615.1(CC2D2A):c.750C>G (p.Ala250=)
|
|
|
|
NM_001378615.1(CC2D2A):c.750C>T (p.Ala250=)
|
|
|
|
NM_001378615.1(CC2D2A):c.757T>C (p.Phe253Leu)
|
|
|
|
NM_001378615.1(CC2D2A):c.762A>C (p.Leu254=)
|
|
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
|
NM_001378615.1(CC2D2A):c.765G>A (p.Leu255=)
|
|
|
|
NM_001378615.1(CC2D2A):c.77_83del (p.Arg26fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.781G>C (p.Ala261Pro)
|
rs2109011616
|
|
|
NM_001378615.1(CC2D2A):c.786C>A (p.Asp262Glu)
|
rs200434902
|
|
|
NM_001378615.1(CC2D2A):c.79C>T (p.Gln27Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.811G>A (p.Asp271Asn)
|
|
|
|
NM_001378615.1(CC2D2A):c.816T>C (p.Tyr272=)
|
rs2109011659
|
|
|
NM_001378615.1(CC2D2A):c.834G>A (p.Arg278=)
|
|
|
|
NM_001378615.1(CC2D2A):c.839del (p.Gln280fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.840G>A (p.Gln280=)
|
|
|
|
NM_001378615.1(CC2D2A):c.857T>A (p.Leu286His)
|
|
|
|
NM_001378615.1(CC2D2A):c.865C>T (p.Pro289Ser)
|
rs371405756
|
|
|
NM_001378615.1(CC2D2A):c.873G>A (p.Arg291=)
|
|
|
|
NM_001378615.1(CC2D2A):c.876G>A (p.Gln292=)
|
|
|
|
NM_001378615.1(CC2D2A):c.880+16A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.881-14del
|
|
|
|
NM_001378615.1(CC2D2A):c.881-15T>G
|
|
|
|
NM_001378615.1(CC2D2A):c.881-5T>A
|
|
|
|
NM_001378615.1(CC2D2A):c.881-6A>G
|
|
|
|
NM_001378615.1(CC2D2A):c.881-7G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.881-7G>T
|
|
|
|
NM_001378615.1(CC2D2A):c.882C>T (p.Val294=)
|
|
|
|
NM_001378615.1(CC2D2A):c.888A>G (p.Thr296=)
|
rs1716838439
|
|
|
NM_001378615.1(CC2D2A):c.889T>C (p.Tyr297His)
|
rs2109012755
|
|
|
NM_001378615.1(CC2D2A):c.902_903insGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCC (p.Glu302fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.906G>A (p.Glu302=)
|
|
|
|
NM_001378615.1(CC2D2A):c.907A>T (p.Asn303Tyr)
|
|
|
|
NM_001378615.1(CC2D2A):c.90C>T (p.Asn30=)
|
|
|
|
NM_001378615.1(CC2D2A):c.918C>T (p.Pro306=)
|
|
|
|
NM_001378615.1(CC2D2A):c.933T>C (p.Asp311=)
|
|
|
|
NM_001378615.1(CC2D2A):c.941_943delinsC (p.Leu314fs)
|
rs1445978091
|
|
|
NM_001378615.1(CC2D2A):c.948C>A (p.Thr316=)
|
rs201439700
|
|
|
NM_001378615.1(CC2D2A):c.948del (p.Gly317_Val318insTer)
|
rs2109012834
|
|
|
NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=)
|
rs762984980
|
|
|
NM_001378615.1(CC2D2A):c.963G>A (p.Glu321=)
|
rs1207496034
|
|
|
NM_001378615.1(CC2D2A):c.964del (p.Val322fs)
|
rs1577340510
|
|
|
NM_001378615.1(CC2D2A):c.967G>A (p.Ala323Thr)
|
|
|
|
NM_001378615.1(CC2D2A):c.968C>T (p.Ala323Val)
|
rs2109012891
|
|
|
NM_001378615.1(CC2D2A):c.989T>C (p.Met330Thr)
|
rs1553826997
|
|
|
NM_001378615.1(CC2D2A):c.991G>A (p.Glu331Lys)
|
rs954758606
|
|
|
NM_015272.5(RPGRIP1L):c.1005G>A (p.Lys335=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly)
|
rs565245381
|
|
|
NM_015272.5(RPGRIP1L):c.100C>T (p.Arg34Trp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1029+10C>T
|
rs542635220
|
|
|
NM_015272.5(RPGRIP1L):c.1029+15A>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1029+15A>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.1029+16G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.1029+19del
|
|
|
|
NM_015272.5(RPGRIP1L):c.1029+6C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.1029+9C>G
|
rs2151244866
|
|
|
NM_015272.5(RPGRIP1L):c.1029+9C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.102G>A (p.Arg34=)
|
rs1598420614
|
|
|
NM_015272.5(RPGRIP1L):c.1030-13A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1030-15T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1030-18A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1030-1G>T
|
rs2151236867
|
|
|
NM_015272.5(RPGRIP1L):c.1030-20T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1030-7A>G
|
rs2151236913
|
|
|
NM_015272.5(RPGRIP1L):c.1031T>A (p.Leu344Gln)
|
rs2151236847
|
|
|
NM_015272.5(RPGRIP1L):c.1032G>A (p.Leu344=)
|
rs1598372472
|
|
|
NM_015272.5(RPGRIP1L):c.1032G>C (p.Leu344=)
|
rs1598372472
|
|
|
NM_015272.5(RPGRIP1L):c.1032G>T (p.Leu344=)
|
rs1598372472
|
|
|
NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter)
|
rs121918202
|
|
|
NM_015272.5(RPGRIP1L):c.1035G>A (p.Gln345=)
|
rs1437242760
|
|
|
NM_015272.5(RPGRIP1L):c.1040G>A (p.Arg347Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1047T>C (p.Asn349=)
|
rs2151236754
|
|
|
NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter)
|
rs1968731636
|
|
|
NM_015272.5(RPGRIP1L):c.1058A>G (p.Lys353Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1062A>G (p.Glu354=)
|
rs2151236607
|
|
|
NM_015272.5(RPGRIP1L):c.1062A>T (p.Glu354Asp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1065G>A (p.Arg355=)
|
rs2151236560
|
|
|
NM_015272.5(RPGRIP1L):c.1071T>G (p.Leu357=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs)
|
rs1060501006
|
|
|
NM_015272.5(RPGRIP1L):c.1073dup (p.Leu358fs)
|
rs1060501006
|
|
|
NM_015272.5(RPGRIP1L):c.1077G>A (p.Lys359=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1080A>G (p.Glu360=)
|
rs2151236444
|
|
|
NM_015272.5(RPGRIP1L):c.1089T>C (p.Asp363=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1097_1098del (p.Leu365_Tyr366insTer)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1103+15C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.1103+17T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1103+18G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.1103+18G>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1103+18del
|
|
|
|
NM_015272.5(RPGRIP1L):c.1103+8G>A
|
rs564455571
|
|
|
NM_015272.5(RPGRIP1L):c.1103+9T>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.1103+9T>C
|
rs2151236168
|
|
|
NM_015272.5(RPGRIP1L):c.1104-13G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.1104-2A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1104-4G>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1104-5dup
|
rs2151199111
|
|
|
NM_015272.5(RPGRIP1L):c.110A>T (p.Lys37Met)
|
rs1403169303
|
|
|
NM_015272.5(RPGRIP1L):c.1110C>T (p.Phe370=)
|
rs2151199080
|
|
|
NM_015272.5(RPGRIP1L):c.1116T>C (p.Ala372=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1119C>G (p.Ala373=)
|
rs1347730821
|
|
|
NM_015272.5(RPGRIP1L):c.111G>T (p.Lys37Asn)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)
|
rs200773352
|
|
|
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs)
|
rs878855006
|
|
|
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)
|
rs863225217
|
|
|
NM_015272.5(RPGRIP1L):c.1134del (p.Gln377_Trp378insTer)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1137G>A (p.Lys379=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1143G>A (p.Lys381=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1149A>G (p.Gln383=)
|
rs2151198800
|
|
|
NM_015272.5(RPGRIP1L):c.114T>A (p.Ser38=)
|
rs2151379752
|
|
|
NM_015272.5(RPGRIP1L):c.1150C>T (p.Gln384Ter)
|
rs1968112121
|
|
|
NM_015272.5(RPGRIP1L):c.1155G>T (p.Leu385=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1161G>T (p.Val387=)
|
rs2151198681
|
|
|
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg)
|
rs181526554
|
|
|
NM_015272.5(RPGRIP1L):c.1167T>A (p.Ile389=)
|
rs1271430052
|
|
|
NM_015272.5(RPGRIP1L):c.116G>T (p.Arg39Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter)
|
rs2151198563
|
|
|
NM_015272.5(RPGRIP1L):c.1176C>G (p.Leu392=)
|
rs759115653
|
|
|
NM_015272.5(RPGRIP1L):c.117C>G (p.Arg39=)
|
rs763892496
|
|
|
NM_015272.5(RPGRIP1L):c.1181C>T (p.Thr394Ile)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1202C>T (p.Thr401Ile)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1207A>G (p.Lys403Glu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.120G>A (p.Gln40=)
|
rs1660515981
|
|
|
NM_015272.5(RPGRIP1L):c.1213G>T (p.Glu405Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1217del (p.Ile406fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1218C>A (p.Ile406=)
|
rs1598357541
|
|
|
NM_015272.5(RPGRIP1L):c.1218C>T (p.Ile406=)
|
rs1598357541
|
|
|
NM_015272.5(RPGRIP1L):c.121G>A (p.Ala41Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1224C>T (p.Asp408=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1225A>T (p.Arg409Ter)
|
rs2151198227
|
|
|
NM_015272.5(RPGRIP1L):c.1226G>A (p.Arg409Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=)
|
rs569208946
|
|
|
NM_015272.5(RPGRIP1L):c.1243+1G>A
|
rs863225218
|
|
|
NM_015272.5(RPGRIP1L):c.1243+2T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1243+6T>C
|
rs751839339
|
|
|
NM_015272.5(RPGRIP1L):c.1243+7T>A
|
rs1302178966
|
|
|
NM_015272.5(RPGRIP1L):c.1243+8T>C
|
rs2151198059
|
|
|
NM_015272.5(RPGRIP1L):c.1243+9G>A
|
rs781524446
|
|
|
NM_015272.5(RPGRIP1L):c.1244-10del
|
rs1967515071
|
|
|
NM_015272.5(RPGRIP1L):c.1244-19T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1244-3A>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1244-9A>G
|
rs2151165404
|
|
|
NM_015272.5(RPGRIP1L):c.1246C>T (p.Gln416Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1247A>G (p.Gln416Arg)
|
rs753413251
|
|
|
NM_015272.5(RPGRIP1L):c.1251T>C (p.Asn417=)
|
rs2151165227
|
|
|
NM_015272.5(RPGRIP1L):c.1252G>T (p.Glu418Ter)
|
rs1967512180
|
|
|
NM_015272.5(RPGRIP1L):c.1258C>G (p.Leu420Val)
|
rs1967511576
|
|
|
NM_015272.5(RPGRIP1L):c.1269G>A (p.Glu423=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.126G>A (p.Val42=)
|
rs1423077786
|
|
|
NM_015272.5(RPGRIP1L):c.1271del (p.Asn424fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1278del (p.Glu426fs)
|
rs1967510088
|
|
|
NM_015272.5(RPGRIP1L):c.1290_1291del (p.Tyr431fs)
|
rs1381634873
|
|
|
NM_015272.5(RPGRIP1L):c.1293T>C (p.Tyr431=)
|
rs2151164876
|
|
|
NM_015272.5(RPGRIP1L):c.1301A>G (p.Gln434Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1304A>G (p.Lys435Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.130C>T (p.Arg44Cys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1310A>G (p.Gln437Arg)
|
rs1227063404
|
|
|
NM_015272.5(RPGRIP1L):c.1311A>C (p.Gln437His)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
|
rs749987648
|
|
|
NM_015272.5(RPGRIP1L):c.1328A>G (p.Lys443Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.132dup (p.Val45fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1340del (p.Leu447fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1343A>G (p.Tyr448Cys)
|
rs2151164400
|
|
|
NM_015272.5(RPGRIP1L):c.1344C>T (p.Tyr448=)
|
rs1967498439
|
|
|
NM_015272.5(RPGRIP1L):c.1350+15T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1350+17_1350+20del
|
|
|
|
NM_015272.5(RPGRIP1L):c.1350+1G>A
|
rs761435025
|
|
|
NM_015272.5(RPGRIP1L):c.1350+1G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.1350G>A (p.Gln450=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1351-12A>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1351-12A>G
|
rs374000859
|
|
|
NM_015272.5(RPGRIP1L):c.1351-13dup
|
|
|
|
NM_015272.5(RPGRIP1L):c.1351-15_1351-12del
|
|
|
|
NM_015272.5(RPGRIP1L):c.1351-16A>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.1351-18T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1351-2A>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1351-4G>A
|
rs1479026011
|
|
|
NM_015272.5(RPGRIP1L):c.1351-9C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.1364A>G (p.Asn455Ser)
|
rs1967458211
|
|
|
NM_015272.5(RPGRIP1L):c.1374A>G (p.Glu458=)
|
rs2151162320
|
|
|
NM_015272.5(RPGRIP1L):c.1377G>A (p.Leu459=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1383A>C (p.Glu461Asp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1386T>C (p.Ala462=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1394T>G (p.Leu465Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1400A>C (p.Lys467Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1401+12A>T
|
rs2151161924
|
|
|
NM_015272.5(RPGRIP1L):c.1401+13A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1401+14C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.1401+16T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1401+18A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1401+20C>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.1401+20C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.1401+8T>C
|
rs2151161961
|
|
|
NM_015272.5(RPGRIP1L):c.1401+9C>G
|
rs768434507
|
|
|
NM_015272.5(RPGRIP1L):c.1401+9C>T
|
rs768434507
|
|
|
NM_015272.5(RPGRIP1L):c.1402-11T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1402-13dup
|
rs1361189318
|
|
|
NM_015272.5(RPGRIP1L):c.1402-14G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.1402-18A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1403del (p.Ala468fs)
|
rs2151157545
|
|
|
NM_015272.5(RPGRIP1L):c.1404T>C (p.Ala468=)
|
rs2151157523
|
|
|
NM_015272.5(RPGRIP1L):c.1414C>G (p.Gln472Glu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1414_1417del (p.Gln472fs)
|
rs2151157384
|
|
|
NM_015272.5(RPGRIP1L):c.1416A>G (p.Gln472=)
|
rs2151157400
|
|
|
NM_015272.5(RPGRIP1L):c.1419_1421del (p.Lys473del)
|
rs760952407
|
|
|
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs)
|
rs760952407
|
|
|
NM_015272.5(RPGRIP1L):c.1421dup (p.Asn474fs)
|
rs760952407
|
|
|
NM_015272.5(RPGRIP1L):c.1428C>T (p.Asp476=)
|
rs2151157288
|
|
|
NM_015272.5(RPGRIP1L):c.1430T>C (p.Leu477Pro)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1437T>C (p.Phe479=)
|
rs2151157214
|
|
|
NM_015272.5(RPGRIP1L):c.1444A>G (p.Lys482Glu)
|
rs1967376456
|
|
|
NM_015272.5(RPGRIP1L):c.1445_1446dup (p.Val483fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1455T>C (p.Ser485=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1464del (p.Asn488fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp)
|
rs1967370164
|
|
|
NM_015272.5(RPGRIP1L):c.1479C>T (p.Arg493=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1492C>T (p.Leu498=)
|
rs777340505
|
|
|
NM_015272.5(RPGRIP1L):c.1496A>C (p.Gln499Pro)
|
rs2151156698
|
|
|
NM_015272.5(RPGRIP1L):c.1509A>G (p.Ala503=)
|
rs2151156589
|
|
|
NM_015272.5(RPGRIP1L):c.1514C>T (p.Thr505Met)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1515G>A (p.Thr505=)
|
rs1472969606
|
|
|
NM_015272.5(RPGRIP1L):c.151G>A (p.Glu51Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1524G>A (p.Glu508=)
|
rs1238972011
|
|
|
NM_015272.5(RPGRIP1L):c.1525C>T (p.Leu509=)
|
rs780528142
|
|
|
NM_015272.5(RPGRIP1L):c.1536A>G (p.Thr512=)
|
rs1020243535
|
|
|
NM_015272.5(RPGRIP1L):c.1537A>G (p.Arg513Gly)
|
|
|
|
NM_015272.5(RPGRIP1L):c.153A>G (p.Glu51=)
|
rs1970746720
|
|
|
NM_015272.5(RPGRIP1L):c.1548A>G (p.Leu516=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1566_1569del (p.Asn523fs)
|
rs2151156278
|
|
|
NM_015272.5(RPGRIP1L):c.1581+11dup
|
|
|
|
NM_015272.5(RPGRIP1L):c.1581+15T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1581+17A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1581+1G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.1581+20G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.1581+20G>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1581+2T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.1581+9A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1582-1G>C
|
rs750917538
|
|
|
NM_015272.5(RPGRIP1L):c.1582-20T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1582-4G>A
|
rs1967278713
|
|
|
NM_015272.5(RPGRIP1L):c.1583T>A (p.Met528Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1587G>A (p.Glu529=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1603del (p.Arg535fs)
|
rs771264753
|
|
|
NM_015272.5(RPGRIP1L):c.1606A>C (p.Lys536Gln)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1608_1614del (p.Met537fs)
|
rs2151150644
|
|
|
NM_015272.5(RPGRIP1L):c.1618T>C (p.Leu540=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1623G>A (p.Gln541=)
|
rs1178582517
|
|
|
NM_015272.5(RPGRIP1L):c.1627G>A (p.Asp543Asn)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1638C>G (p.Leu546=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1641dup (p.Val548fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1650G>A (p.Gln550=)
|
rs2151150317
|
|
|
NM_015272.5(RPGRIP1L):c.1652A>G (p.Tyr551Cys)
|
rs1307023675
|
|
|
NM_015272.5(RPGRIP1L):c.1652A>T (p.Tyr551Phe)
|
rs1307023675
|
|
|
NM_015272.5(RPGRIP1L):c.1656T>C (p.Val552=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1656T>G (p.Val552=)
|
rs2151150242
|
|
|
NM_015272.5(RPGRIP1L):c.1659T>C (p.His553=)
|
rs1227717832
|
|
|
NM_015272.5(RPGRIP1L):c.1672A>C (p.Arg558=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1675G>A (p.Ala559Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1680A>G (p.Ala560=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1692del (p.Lys564fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1693C>T (p.Leu565=)
|
rs2151149921
|
|
|
NM_015272.5(RPGRIP1L):c.1699+13C>T
|
rs1212500499
|
|
|
NM_015272.5(RPGRIP1L):c.1699+14G>A
|
rs188075133
|
|
|
NM_015272.5(RPGRIP1L):c.1699+14G>T
|
rs188075133
|
|
|
NM_015272.5(RPGRIP1L):c.1699+17T>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.1699+4C>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1699+5A>C
|
rs865956479
|
|
|
NM_015272.5(RPGRIP1L):c.1699+9T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.169T>A (p.Leu57Met)
|
rs1970745367
|
|
|
NM_015272.5(RPGRIP1L):c.1700-16G>T
|
rs1555604481
|
|
|
NM_015272.5(RPGRIP1L):c.1700-4G>A
|
rs1966916853
|
|
|
NM_015272.5(RPGRIP1L):c.1700-4G>T
|
rs1966916853
|
|
|
NM_015272.5(RPGRIP1L):c.1700-9C>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1700-9C>T
|
rs2151128760
|
|
|
NM_015272.5(RPGRIP1L):c.1700C>A (p.Ala567Asp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=)
|
rs1555604462
|
|
|
NM_015272.5(RPGRIP1L):c.1702C>T (p.Gln568Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1708_1709insTT (p.Lys570fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)
|
rs778149316
|
|
|
NM_015272.5(RPGRIP1L):c.170T>A (p.Leu57Ter)
|
rs2151379380
|
|
|
NM_015272.5(RPGRIP1L):c.1714A>G (p.Ile572Val)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr)
|
rs2151128525
|
|
|
NM_015272.5(RPGRIP1L):c.172C>A (p.His58Asn)
|
rs2151379355
|
|
|
NM_015272.5(RPGRIP1L):c.1732C>T (p.Gln578Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1739A>C (p.Lys580Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.173A>G (p.His58Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1743T>A (p.Phe581Leu)
|
rs1966909934
|
|
|
NM_015272.5(RPGRIP1L):c.1745_1749del (p.Lys582fs)
|
rs754766543
|
|
|
NM_015272.5(RPGRIP1L):c.1746A>G (p.Lys582=)
|
rs2151128298
|
|
|
NM_015272.5(RPGRIP1L):c.175G>C (p.Asp59His)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1773T>C (p.Val591=)
|
rs2151128005
|
|
|
NM_015272.5(RPGRIP1L):c.1775A>G (p.Asp592Gly)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
|
rs1966902456
|
|
|
NM_015272.5(RPGRIP1L):c.1809C>G (p.Gly603=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1815T>C (p.Asn605=)
|
rs2151127604
|
|
|
NM_015272.5(RPGRIP1L):c.1818A>G (p.Leu606=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1827C>T (p.Ile609=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro)
|
rs386833997
|
|
|
NM_015272.5(RPGRIP1L):c.1830T>C (p.His610=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1831A>G (p.Ile611Val)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1833C>T (p.Ile611=)
|
rs756141067
|
|
|
NM_015272.5(RPGRIP1L):c.1842A>G (p.Val614=)
|
rs781049099
|
|
|
NM_015272.5(RPGRIP1L):c.1844C>A (p.Thr615Asn)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1854T>G (p.Ser618=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1860T>C (p.Val620=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1861T>C (p.Leu621=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter)
|
rs1156977888
|
|
|
NM_015272.5(RPGRIP1L):c.1884G>A (p.Glu628=)
|
rs2151126933
|
|
|
NM_015272.5(RPGRIP1L):c.1893T>G (p.Thr631=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1896C>G (p.Phe632Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1897T>C (p.Cys633Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys)
|
rs981992752
|
|
|
NM_015272.5(RPGRIP1L):c.1914T>A (p.Tyr638Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1914T>C (p.Tyr638=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1919T>G (p.Phe640Cys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1920dup (p.Glu641Ter)
|
rs2151126581
|
|
|
NM_015272.5(RPGRIP1L):c.1925T>C (p.Leu642Pro)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1926A>T (p.Leu642=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1935T>A (p.Thr645=)
|
rs2151126431
|
|
|
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)
|
rs745879566
|
|
|
NM_015272.5(RPGRIP1L):c.1951del (p.Leu651fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1955A>G (p.His652Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1959C>T (p.Pro653=)
|
rs1213772384
|
|
|
NM_015272.5(RPGRIP1L):c.1959del (p.Glu654fs)
|
rs2151126163
|
|
|
NM_015272.5(RPGRIP1L):c.196C>A (p.Gln66Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=)
|
rs138669723
|
|
|
NM_015272.5(RPGRIP1L):c.1972A>G (p.Thr658Ala)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1974T>C (p.Thr658=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1978C>T (p.Gln660Ter)
|
rs2151125946
|
|
|
NM_015272.5(RPGRIP1L):c.1986T>C (p.Leu662=)
|
rs2151125842
|
|
|
NM_015272.5(RPGRIP1L):c.198G>A (p.Gln66=)
|
rs2151379187
|
|
|
NM_015272.5(RPGRIP1L):c.1991A>G (p.His664Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1995T>C (p.Val665=)
|
rs2151125697
|
|
|
NM_015272.5(RPGRIP1L):c.1996A>G (p.Asn666Asp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.1998T>C (p.Asn666=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2003T>A (p.Leu668Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2008T>C (p.Leu670=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2009dup (p.Leu670fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.200A>G (p.His67Arg)
|
rs763837182
|
|
|
NM_015272.5(RPGRIP1L):c.200A>T (p.His67Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2012A>G (p.Gln671Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2014T>C (p.Tyr672His)
|
rs1966881046
|
|
|
NM_015272.5(RPGRIP1L):c.2017A>G (p.Ile673Val)
|
rs2151125534
|
|
|
NM_015272.5(RPGRIP1L):c.2018T>A (p.Ile673Asn)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2018_2021dup (p.Gln674fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2022G>A (p.Gln674=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2032A>C (p.Ile678Leu)
|
rs958116016
|
|
|
NM_015272.5(RPGRIP1L):c.2032A>G (p.Ile678Val)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2040T>G (p.Leu680=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2042A>G (p.Glu681Gly)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2064A>G (p.Thr688=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2067A>G (p.Glu689=)
|
rs890062959
|
|
|
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His)
|
rs574091991
|
|
|
NM_015272.5(RPGRIP1L):c.2070T>C (p.Tyr690=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.207C>G (p.Arg69=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2083_2084delinsAA (p.Ala695Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2090A>G (p.Gln697Arg)
|
rs1396387199
|
|
|
NM_015272.5(RPGRIP1L):c.2092_2095del (p.Leu698fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2096A>C (p.Lys699Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2104G>T (p.Glu702Ter)
|
rs199975230
|
|
|
NM_015272.5(RPGRIP1L):c.2115A>G (p.Glu705=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
|
NM_015272.5(RPGRIP1L):c.2126G>A (p.Arg709Gln)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2130A>G (p.Ile710Met)
|
rs748143379
|
|
|
NM_015272.5(RPGRIP1L):c.2138C>T (p.Thr713Ile)
|
rs1016477709
|
|
|
NM_015272.5(RPGRIP1L):c.2141C>G (p.Ala714Gly)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2145T>C (p.Ser715=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2149_2152del (p.Ile717fs)
|
rs763685772
|
|
|
NM_015272.5(RPGRIP1L):c.2152+10A>C
|
rs1966875026
|
|
|
NM_015272.5(RPGRIP1L):c.2152+10A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2152+11T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2152+19C>A
|
rs754811161
|
|
|
NM_015272.5(RPGRIP1L):c.2152+19C>G
|
rs754811161
|
|
|
NM_015272.5(RPGRIP1L):c.2152+1G>C
|
rs1006433886
|
|
|
NM_015272.5(RPGRIP1L):c.2152+7A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2152+8C>G
|
rs2151124212
|
|
|
NM_015272.5(RPGRIP1L):c.2153-12A>G
|
rs2151102687
|
|
|
NM_015272.5(RPGRIP1L):c.2153-13T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2153-14G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2153-14G>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2153-15T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2153-16A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2153-16A>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.2153-19G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2153-19G>T
|
rs988899852
|
|
|
NM_015272.5(RPGRIP1L):c.2153-20_2153-18del
|
|
|
|
NM_015272.5(RPGRIP1L):c.2153-4G>A
|
rs201380599
|
|
|
NM_015272.5(RPGRIP1L):c.2153-5del
|
|
|
|
NM_015272.5(RPGRIP1L):c.2153-7T>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2156C>G (p.Thr719Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2158A>G (p.Lys720Glu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2172A>G (p.Pro724=)
|
rs1472949647
|
|
|
NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp)
|
rs546150528
|
|
|
NM_015272.5(RPGRIP1L):c.2184A>C (p.Thr728=)
|
rs2151102385
|
|
|
NM_015272.5(RPGRIP1L):c.2184A>G (p.Thr728=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2190A>G (p.Glu730=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2193C>T (p.Tyr731=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2196G>C (p.Trp732Cys)
|
rs2151102358
|
|
|
NM_015272.5(RPGRIP1L):c.2201_2213del (p.Arg734fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2206A>G (p.Arg736Gly)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2214C>G (p.Pro738=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2221C>T (p.Gln741Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2223A>G (p.Gln741=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2223del (p.Ala742fs)
|
rs2151102253
|
|
|
NM_015272.5(RPGRIP1L):c.2230C>A (p.Arg744=)
|
rs267604575
|
|
|
NM_015272.5(RPGRIP1L):c.2231G>T (p.Arg744Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
|
NM_015272.5(RPGRIP1L):c.223A>G (p.Ile75Val)
|
rs2151379062
|
|
|
NM_015272.5(RPGRIP1L):c.2241A>T (p.Arg747=)
|
rs2151101997
|
|
|
NM_015272.5(RPGRIP1L):c.2244A>G (p.Glu748=)
|
rs2151101953
|
|
|
NM_015272.5(RPGRIP1L):c.2246G>A (p.Arg749Lys)
|
rs774573573
|
|
|
NM_015272.5(RPGRIP1L):c.225T>A (p.Ile75=)
|
rs2151379048
|
|
|
NM_015272.5(RPGRIP1L):c.225dup (p.Lys76Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2261G>A (p.Gly754Glu)
|
rs1966773695
|
|
|
NM_015272.5(RPGRIP1L):c.2262G>T (p.Gly754=)
|
rs775616241
|
|
|
NM_015272.5(RPGRIP1L):c.2262del (p.Tyr755fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2271A>G (p.Thr757=)
|
rs2151101735
|
|
|
NM_015272.5(RPGRIP1L):c.2273C>T (p.Ser758Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2277T>C (p.Asn759=)
|
rs2151101706
|
|
|
NM_015272.5(RPGRIP1L):c.2286G>A (p.Gly762=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2286G>T (p.Gly762=)
|
rs769599317
|
|
|
NM_015272.5(RPGRIP1L):c.2288dup (p.Glu764fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2293_2301del (p.His765_Gln767del)
|
rs1555602657
|
|
|
NM_015272.5(RPGRIP1L):c.2296A>G (p.Met766Val)
|
rs2151101589
|
|
|
NM_015272.5(RPGRIP1L):c.230+10A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.230+13dup
|
|
|
|
NM_015272.5(RPGRIP1L):c.230+14G>A
|
rs1970739259
|
|
|
NM_015272.5(RPGRIP1L):c.230+14G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.230+17T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.230+18T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.230+19T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.230+1G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.230+7A>G
|
rs1970740052
|
|
|
NM_015272.5(RPGRIP1L):c.230+9A>G
|
rs774753693
|
|
|
NM_015272.5(RPGRIP1L):c.2301G>A (p.Gln767=)
|
rs1338012833
|
|
|
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
|
rs542206983
|
|
|
NM_015272.5(RPGRIP1L):c.2303C>T (p.Ser768Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2304+12T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2304+14G>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2304+18T>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2304+18T>C
|
rs780469767
|
|
|
NM_015272.5(RPGRIP1L):c.2304+1G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2304+6C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.2304+8C>T
|
rs1421469718
|
|
|
NM_015272.5(RPGRIP1L):c.2304+9A>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2304+9A>G
|
rs1461433745
|
|
|
NM_015272.5(RPGRIP1L):c.2304+9A>T
|
rs1461433745
|
|
|
NM_015272.5(RPGRIP1L):c.2305-11T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2305-15T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2305-15del
|
|
|
|
NM_015272.5(RPGRIP1L):c.2305-1G>C
|
rs863225215
|
|
|
NM_015272.5(RPGRIP1L):c.2305-8T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2305-8T>G
|
rs953486434
|
|
|
NM_015272.5(RPGRIP1L):c.231-10A>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.231-13A>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.231-2A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.231-4C>G
|
rs774628905
|
|
|
NM_015272.5(RPGRIP1L):c.231-5C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.2319A>C (p.Ala773=)
|
rs2151084071
|
|
|
NM_015272.5(RPGRIP1L):c.2322del (p.Thr776fs)
|
rs1253568005
|
|
|
NM_015272.5(RPGRIP1L):c.2332C>T (p.Gln778Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2334A>G (p.Gln778=)
|
rs1435869251
|
|
|
NM_015272.5(RPGRIP1L):c.2335C>T (p.Leu779Phe)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2346A>G (p.Thr782=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=)
|
rs1966518935
|
|
|
NM_015272.5(RPGRIP1L):c.2352C>A (p.Ser784=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2354_2367delinsTTAC (p.Thr785fs)
|
rs1966516920
|
|
|
NM_015272.5(RPGRIP1L):c.2358T>C (p.Asp786=)
|
rs1468139751
|
|
|
NM_015272.5(RPGRIP1L):c.2360G>A (p.Gly787Asp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2360G>C (p.Gly787Ala)
|
rs996587890
|
|
|
NM_015272.5(RPGRIP1L):c.2361C>A (p.Gly787=)
|
rs1481436139
|
|
|
NM_015272.5(RPGRIP1L):c.2370T>C (p.Asn790=)
|
rs2151083713
|
|
|
NM_015272.5(RPGRIP1L):c.2379C>T (p.His793=)
|
rs1567830747
|
|
|
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=)
|
rs1970448329
|
|
|
NM_015272.5(RPGRIP1L):c.2380A>G (p.Ile794Val)
|
rs781443815
|
|
|
NM_015272.5(RPGRIP1L):c.2381T>C (p.Ile794Thr)
|
rs2151083626
|
|
|
NM_015272.5(RPGRIP1L):c.2383A>G (p.Thr795Ala)
|
rs1393329540
|
|
|
NM_015272.5(RPGRIP1L):c.2384C>T (p.Thr795Ile)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2389A>G (p.Arg797Gly)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2391A>G (p.Arg797=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2397C>A (p.Cys799Ter)
|
rs758547965
|
|
|
NM_015272.5(RPGRIP1L):c.2398A>G (p.Asn800Asp)
|
rs752724338
|
|
|
NM_015272.5(RPGRIP1L):c.2404C>G (p.Leu802Val)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2418A>G (p.Ala806=)
|
rs1966512167
|
|
|
NM_015272.5(RPGRIP1L):c.2424C>T (p.His808=)
|
rs771774137
|
|
|
NM_015272.5(RPGRIP1L):c.2425C>T (p.Leu809=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2428C>T (p.Gln810Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2432del (p.Pro811fs)
|
rs1966511029
|
|
|
NM_015272.5(RPGRIP1L):c.2435_2436dup (p.Pro813fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.243G>A (p.Lys81=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2444T>C (p.Val815Ala)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2445T>C (p.Val815=)
|
rs2151083124
|
|
|
NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter)
|
rs145807002
|
|
|
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)
|
rs145807002
|
|
|
NM_015272.5(RPGRIP1L):c.2460T>C (p.Phe820=)
|
rs778075524
|
|
|
NM_015272.5(RPGRIP1L):c.2465T>C (p.Phe822Ser)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2466del (p.Phe822fs)
|
rs1966507642
|
|
|
NM_015272.5(RPGRIP1L):c.2467G>A (p.Ala823Thr)
|
rs1051268898
|
|
|
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu)
|
rs2151082906
|
|
|
NM_015272.5(RPGRIP1L):c.2481A>C (p.Thr827=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2484T>G (p.Ala828=)
|
rs2151082787
|
|
|
NM_015272.5(RPGRIP1L):c.2487C>T (p.Ile829=)
|
rs2151082774
|
|
|
NM_015272.5(RPGRIP1L):c.2490T>C (p.Ile830=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2493del (p.Ser832fs)
|
rs746792129
|
|
|
NM_015272.5(RPGRIP1L):c.2496T>C (p.Ser832=)
|
rs2151082740
|
|
|
NM_015272.5(RPGRIP1L):c.249A>G (p.Ile83Met)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2508A>G (p.Pro836=)
|
rs753693082
|
|
|
NM_015272.5(RPGRIP1L):c.2508A>T (p.Pro836=)
|
rs753693082
|
|
|
NM_015272.5(RPGRIP1L):c.250C>A (p.Arg84=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.250C>G (p.Arg84Gly)
|
rs770098954
|
|
|
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=)
|
rs1598310040
|
|
|
NM_015272.5(RPGRIP1L):c.2532C>T (p.Phe844=)
|
rs760455293
|
|
|
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)
|
rs770291169
|
|
|
NM_015272.5(RPGRIP1L):c.2563T>C (p.Tyr855His)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2565C>A (p.Tyr855Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)
|
rs886052096
|
|
|
NM_015272.5(RPGRIP1L):c.2566del (p.Lys857fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.256G>A (p.Val86Ile)
|
|
|
|
NM_015272.5(RPGRIP1L):c.256G>C (p.Val86Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.256_259del (p.Val86fs)
|
rs751020468
|
|
|
NM_015272.5(RPGRIP1L):c.2571G>A (p.Lys857=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2573C>A (p.Ser858Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2574A>G (p.Ser858=)
|
rs1966500554
|
|
|
NM_015272.5(RPGRIP1L):c.2576_2577del (p.Glu859fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2577G>A (p.Glu859=)
|
rs2151082234
|
|
|
NM_015272.5(RPGRIP1L):c.2591_2592del (p.Tyr864fs)
|
rs772028612
|
|
|
NM_015272.5(RPGRIP1L):c.2592T>C (p.Tyr864=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2595T>G (p.Val865=)
|
rs546554009
|
|
|
NM_015272.5(RPGRIP1L):c.2601T>C (p.Asp867=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2603A>G (p.Asp868Gly)
|
rs1966497416
|
|
|
NM_015272.5(RPGRIP1L):c.2604T>C (p.Asp868=)
|
rs1567829935
|
|
|
NM_015272.5(RPGRIP1L):c.2609A>G (p.Asp870Gly)
|
rs1966496784
|
|
|
NM_015272.5(RPGRIP1L):c.2615A>G (p.Gln872Arg)
|
rs754997198
|
|
|
NM_015272.5(RPGRIP1L):c.261T>C (p.Asn87=)
|
rs752587948
|
|
|
NM_015272.5(RPGRIP1L):c.2630T>C (p.Ile877Thr)
|
rs756072167
|
|
|
NM_015272.5(RPGRIP1L):c.2634A>G (p.Gly878=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2643_2671del (p.Asn881fs)
|
rs886041824
|
|
|
NM_015272.5(RPGRIP1L):c.2657C>T (p.Ser886Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2658G>T (p.Ser886=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2665C>T (p.His889Tyr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.267G>A (p.Lys89=)
|
rs1434968352
|
|
|
NM_015272.5(RPGRIP1L):c.2683+15T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2683+15T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2683+1G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.2683+2T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2684-14T>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2684-14T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2684-15A>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2684-1G>A
|
rs2151060257
|
|
|
NM_015272.5(RPGRIP1L):c.269_273del (p.Lys90fs)
|
rs2151353922
|
|
|
NM_015272.5(RPGRIP1L):c.2711del (p.Lys904fs)
|
rs2151060082
|
|
|
NM_015272.5(RPGRIP1L):c.2715del (p.Pro906fs)
|
rs2151060021
|
|
|
NM_015272.5(RPGRIP1L):c.2718T>C (p.Pro906=)
|
rs1038661631
|
|
|
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser)
|
rs1966216548
|
|
|
NM_015272.5(RPGRIP1L):c.2726C>G (p.Thr909Ser)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2729T>C (p.Ile910Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2730C>T (p.Ile910=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2733T>C (p.His911=)
|
rs780925825
|
|
|
NM_015272.5(RPGRIP1L):c.2740T>C (p.Leu914=)
|
rs746733895
|
|
|
NM_015272.5(RPGRIP1L):c.2743A>C (p.Lys915Gln)
|
rs2151059707
|
|
|
NM_015272.5(RPGRIP1L):c.2751A>G (p.Lys917=)
|
rs2151059675
|
|
|
NM_015272.5(RPGRIP1L):c.2760C>A (p.Tyr920Ter)
|
rs1966212821
|
|
|
NM_015272.5(RPGRIP1L):c.2763T>G (p.Leu921=)
|
rs2151059581
|
|
|
NM_015272.5(RPGRIP1L):c.2765C>T (p.Pro922Leu)
|
rs2151059566
|
|
|
NM_015272.5(RPGRIP1L):c.2766A>G (p.Pro922=)
|
rs1567825162
|
|
|
NM_015272.5(RPGRIP1L):c.2767C>T (p.Pro923Ser)
|
rs572508334
|
|
|
NM_015272.5(RPGRIP1L):c.2770A>C (p.Ser924Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2771G>A (p.Ser924Asn)
|
rs142234650
|
|
|
NM_015272.5(RPGRIP1L):c.2773G>A (p.Gly925Arg)
|
rs2151059471
|
|
|
NM_015272.5(RPGRIP1L):c.2778A>G (p.Ser926=)
|
rs1293313012
|
|
|
NM_015272.5(RPGRIP1L):c.2781A>T (p.Ile927=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2784A>G (p.Thr928=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.27A>C (p.Ala9=)
|
rs765315344
|
|
|
NM_015272.5(RPGRIP1L):c.27A>G (p.Ala9=)
|
rs765315344
|
|
|
NM_015272.5(RPGRIP1L):c.2809C>T (p.Arg937Cys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2810G>T (p.Arg937Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2816_2817del (p.Glu939fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2823A>G (p.Pro941=)
|
rs1966206646
|
|
|
NM_015272.5(RPGRIP1L):c.282G>T (p.Arg94=)
|
rs2151353718
|
|
|
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe)
|
rs576417383
|
|
|
NM_015272.5(RPGRIP1L):c.2840T>C (p.Leu947Pro)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2842C>A (p.Pro948Thr)
|
rs1486116698
|
|
|
NM_015272.5(RPGRIP1L):c.2843C>T (p.Pro948Leu)
|
rs561327446
|
|
|
NM_015272.5(RPGRIP1L):c.2851_2863del (p.Ser951fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2852C>T (p.Ser951Phe)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2853C>T (p.Ser951=)
|
rs2151058811
|
|
|
NM_015272.5(RPGRIP1L):c.2855_2856del (p.Ser952fs)
|
rs2151058791
|
|
|
NM_015272.5(RPGRIP1L):c.2857G>A (p.Val953Ile)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2859T>C (p.Val953=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=)
|
rs2151058712
|
|
|
NM_015272.5(RPGRIP1L):c.2867T>C (p.Leu956Pro)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2874+10A>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2874+11G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2874+13G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2874+18_2874+19del
|
|
|
|
NM_015272.5(RPGRIP1L):c.2874+4A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2875-15G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2875-17T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.2875-20C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.2875-2A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2875-3T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2875-4T>C
|
rs2151057424
|
|
|
NM_015272.5(RPGRIP1L):c.2875-5C>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2875-5C>T
|
rs758927533
|
|
|
NM_015272.5(RPGRIP1L):c.2875-6T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.287G>A (p.Gly96Asp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2883A>G (p.Arg961=)
|
rs1459496882
|
|
|
NM_015272.5(RPGRIP1L):c.2886T>G (p.Pro962=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2913A>C (p.Val971=)
|
rs766575191
|
|
|
NM_015272.5(RPGRIP1L):c.2915A>G (p.Asp972Gly)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2919G>A (p.Lys973=)
|
rs2151056978
|
|
|
NM_015272.5(RPGRIP1L):c.291C>A (p.Gly97=)
|
rs765369037
|
|
|
NM_015272.5(RPGRIP1L):c.2920A>T (p.Lys974Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2923G>A (p.Val975Ile)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2934G>A (p.Val978=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2935G>T (p.Asp979Tyr)
|
rs370687136
|
|
|
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs)
|
rs1182447072
|
|
|
NM_015272.5(RPGRIP1L):c.294C>T (p.Gly98=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2952G>C (p.Gln984His)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2958+10A>G
|
rs2151056471
|
|
|
NM_015272.5(RPGRIP1L):c.2958+11G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.2958+12A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>T
|
rs2151056579
|
|
|
NM_015272.5(RPGRIP1L):c.2958+3A>G
|
rs2151056549
|
|
|
NM_015272.5(RPGRIP1L):c.2958+4_2958+7dup
|
rs2151056517
|
|
|
NM_015272.5(RPGRIP1L):c.2959-11A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2959-12C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.2959-13A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2959-16_2960del
|
|
|
|
NM_015272.5(RPGRIP1L):c.2959-5A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2959-8A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.2959G>A (p.Glu987Lys)
|
rs1467277908
|
|
|
NM_015272.5(RPGRIP1L):c.2960A>C (p.Glu987Ala)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2961G>A (p.Glu987=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2962A>T (p.Thr988Ser)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2963C>T (p.Thr988Ile)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2964T>C (p.Thr988=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2964T>G (p.Thr988=)
|
rs2151040746
|
|
|
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)
|
rs752076060
|
|
|
NM_015272.5(RPGRIP1L):c.296C>T (p.Pro99Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2974C>G (p.Pro992Ala)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2976T>C (p.Pro992=)
|
rs2151040617
|
|
|
NM_015272.5(RPGRIP1L):c.2981_2982insCA (p.Arg995fs)
|
rs2151040565
|
|
|
NM_015272.5(RPGRIP1L):c.2985G>A (p.Arg995=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2988G>A (p.Lys996=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2992A>G (p.Ile998Val)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2996C>G (p.Ser999Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.299del (p.Lys100fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3007G>A (p.Glu1003Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)
|
rs574430009
|
|
|
NM_015272.5(RPGRIP1L):c.3014T>C (p.Ile1005Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3024A>T (p.Ile1008=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3027A>T (p.Glu1009Asp)
|
rs2151040118
|
|
|
NM_015272.5(RPGRIP1L):c.3035T>C (p.Met1012Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)
|
rs182207372
|
|
|
NM_015272.5(RPGRIP1L):c.303G>T (p.Arg101=)
|
rs182207372
|
|
|
NM_015272.5(RPGRIP1L):c.3042T>C (p.Thr1014=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3043G>C (p.Val1015Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3045_3060+12dup
|
|
|
|
NM_015272.5(RPGRIP1L):c.3047C>T (p.Pro1016Leu)
|
rs2151040012
|
|
|
NM_015272.5(RPGRIP1L):c.3060+10T>A
|
rs2151039825
|
|
|
NM_015272.5(RPGRIP1L):c.3060+7A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3060+8T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3061-18G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3061-7T>C
|
rs1965940741
|
|
|
NM_015272.5(RPGRIP1L):c.3061G>A (p.Val1021Ile)
|
rs552123467
|
|
|
NM_015272.5(RPGRIP1L):c.3067C>T (p.Gln1023Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3068A>G (p.Gln1023Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3069A>G (p.Gln1023=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3078T>C (p.Ser1026=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3084T>C (p.Asp1028=)
|
rs1965938868
|
|
|
NM_015272.5(RPGRIP1L):c.3090A>G (p.Val1030=)
|
rs1965937231
|
|
|
NM_015272.5(RPGRIP1L):c.3110T>A (p.Met1037Lys)
|
rs2151036636
|
|
|
NM_015272.5(RPGRIP1L):c.3124G>C (p.Asp1042His)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3134C>G (p.Ser1045Cys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3138A>G (p.Leu1046=)
|
rs1306386140
|
|
|
NM_015272.5(RPGRIP1L):c.3141A>G (p.Leu1047=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3141_3144del (p.Ser1048fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3142T>C (p.Ser1048Pro)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3156T>A (p.Leu1052=)
|
rs2151036210
|
|
|
NM_015272.5(RPGRIP1L):c.3160G>T (p.Glu1054Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3162A>G (p.Glu1054=)
|
rs2151036177
|
|
|
NM_015272.5(RPGRIP1L):c.3168C>T (p.Ser1056=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3169T>C (p.Leu1057=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3171G>A (p.Leu1057=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3174A>G (p.Ala1058=)
|
rs1965928165
|
|
|
NM_015272.5(RPGRIP1L):c.3175T>C (p.Ser1059Pro)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3184G>A (p.Asp1062Asn)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3192A>C (p.Thr1064=)
|
rs956639777
|
|
|
NM_015272.5(RPGRIP1L):c.3192A>G (p.Thr1064=)
|
rs956639777
|
|
|
NM_015272.5(RPGRIP1L):c.3208_3214del (p.Leu1070fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3211G>A (p.Glu1071Lys)
|
rs864622470
|
|
|
NM_015272.5(RPGRIP1L):c.3220+13T>C
|
rs376659273
|
|
|
NM_015272.5(RPGRIP1L):c.3220+5C>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.3220+7T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3220+8T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3221-14T>A
|
rs761174078
|
|
|
NM_015272.5(RPGRIP1L):c.3221-15T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3221-17T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3221-20C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3221-3C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3221-4A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3221-7T>C
|
rs1170674790
|
|
|
NM_015272.5(RPGRIP1L):c.3221-7dup
|
|
|
|
NM_015272.5(RPGRIP1L):c.3221T>A (p.Val1074Asp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.322A>G (p.Met108Val)
|
rs1970437847
|
|
|
NM_015272.5(RPGRIP1L):c.3232A>C (p.Met1078Leu)
|
rs1965842435
|
|
|
NM_015272.5(RPGRIP1L):c.3233T>C (p.Met1078Thr)
|
rs1391765743
|
|
|
NM_015272.5(RPGRIP1L):c.3235T>G (p.Ser1079Ala)
|
rs1295300355
|
|
|
NM_015272.5(RPGRIP1L):c.3237A>C (p.Ser1079=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3246C>T (p.Asp1082=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.324G>C (p.Met108Ile)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3257G>A (p.Cys1086Tyr)
|
rs772351648
|
|
|
NM_015272.5(RPGRIP1L):c.3257_3258del (p.Cys1086fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.325G>A (p.Glu109Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.325G>T (p.Glu109Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3263T>C (p.Ile1088Thr)
|
rs1185071339
|
|
|
NM_015272.5(RPGRIP1L):c.3270T>C (p.Gly1090=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3277del (p.Ser1093fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.327A>G (p.Glu109=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3294+10T>C
|
rs201237327
|
|
|
NM_015272.5(RPGRIP1L):c.3294+11T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3294+17C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3294+19A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3294+6T>C
|
rs2151029086
|
|
|
NM_015272.5(RPGRIP1L):c.3294+9C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-10T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-16T>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-18_3295-17insC
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-20T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-2A>G
|
rs1258182460
|
|
|
NM_015272.5(RPGRIP1L):c.3295-4A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-6A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-6del
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-7G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-7del
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-7dup
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-8del
|
rs113083177
|
|
|
NM_015272.5(RPGRIP1L):c.3295-9T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3295-9_3295-8insG
|
|
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
|
NM_015272.5(RPGRIP1L):c.330A>G (p.Glu110=)
|
rs1970437460
|
|
|
NM_015272.5(RPGRIP1L):c.3310C>T (p.Pro1104Ser)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=)
|
rs568801926
|
|
|
NM_015272.5(RPGRIP1L):c.3313G>C (p.Gly1105Arg)
|
rs528501990
|
|
|
NM_015272.5(RPGRIP1L):c.3315G>A (p.Gly1105=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3321G>A (p.Gly1107=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3324C>T (p.Cys1108=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3332C>T (p.Ala1111Val)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3339A>C (p.Ser1113=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3351C>T (p.Asn1117=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3356G>T (p.Arg1119Leu)
|
rs1207253947
|
|
|
NM_015272.5(RPGRIP1L):c.3363G>A (p.Pro1121=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.336T>A (p.Ile112=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.336T>C (p.Ile112=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3373G>T (p.Asp1125Tyr)
|
rs866468122
|
|
|
NM_015272.5(RPGRIP1L):c.3380del (p.Pro1127fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3390C>T (p.Ala1130=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3393C>A (p.Ser1131=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3396A>G (p.Gln1132=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.339G>A (p.Glu113=)
|
rs1970436686
|
|
|
NM_015272.5(RPGRIP1L):c.3412G>A (p.Gly1138Ser)
|
rs2150974674
|
|
|
NM_015272.5(RPGRIP1L):c.3423C>T (p.His1141=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3426C>T (p.His1142=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3428C>A (p.Thr1143Asn)
|
rs111775292
|
|
|
NM_015272.5(RPGRIP1L):c.3430C>T (p.Gln1144Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3432+10dup
|
|
|
|
NM_015272.5(RPGRIP1L):c.3432+13A>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3432+1G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.3432+1G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3432+20G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3432+2T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3432+4A>G
|
rs1449225904
|
|
|
NM_015272.5(RPGRIP1L):c.3433-13G>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.3433-1G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.3433-20dup
|
|
|
|
NM_015272.5(RPGRIP1L):c.3433-7T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3433-7_3436del
|
rs2150964847
|
|
|
NM_015272.5(RPGRIP1L):c.3435A>G (p.Pro1145=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3439G>T (p.Glu1147Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3445dup (p.Ile1149fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=)
|
rs750930363
|
|
|
NM_015272.5(RPGRIP1L):c.3453T>C (p.Ile1151=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3457del (p.Ile1153fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3459C>T (p.Ile1153=)
|
rs1964562143
|
|
|
NM_015272.5(RPGRIP1L):c.3461dup (p.Ala1155fs)
|
rs1964561986
|
|
|
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val)
|
rs1436841364
|
|
|
NM_015272.5(RPGRIP1L):c.3465T>A (p.Ala1155=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3470G>C (p.Ser1157Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3480T>G (p.Asp1160Glu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3492C>T (p.Thr1164=)
|
rs2150964666
|
|
|
NM_015272.5(RPGRIP1L):c.3493A>G (p.Met1165Val)
|
rs2150964658
|
|
|
NM_015272.5(RPGRIP1L):c.3497A>T (p.Asp1166Val)
|
|
|
|
NM_015272.5(RPGRIP1L):c.349G>A (p.Glu117Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3511C>T (p.Arg1171Trp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3512G>A (p.Arg1171Gln)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3514C>T (p.Leu1172=)
|
rs2150964607
|
|
|
NM_015272.5(RPGRIP1L):c.3516G>C (p.Leu1172=)
|
rs1388851938
|
|
|
NM_015272.5(RPGRIP1L):c.3528T>C (p.Cys1176=)
|
rs1449202929
|
|
|
NM_015272.5(RPGRIP1L):c.3529C>A (p.Arg1177=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3531A>T (p.Arg1177=)
|
rs2150964540
|
|
|
NM_015272.5(RPGRIP1L):c.3533_3535del (p.Phe1178del)
|
rs1964556741
|
|
|
NM_015272.5(RPGRIP1L):c.3540T>G (p.Ser1180Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3552A>G (p.Glu1184=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3555G>A (p.Glu1185=)
|
rs2150964438
|
|
|
NM_015272.5(RPGRIP1L):c.3558_3559del (p.Pro1187fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
|
NM_015272.5(RPGRIP1L):c.3561C>T (p.Pro1187=)
|
rs557855890
|
|
|
NM_015272.5(RPGRIP1L):c.3573A>C (p.Pro1191=)
|
rs2150964332
|
|
|
NM_015272.5(RPGRIP1L):c.357T>G (p.Val119=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3580A>C (p.Lys1194Gln)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3580A>G (p.Lys1194Glu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3585T>G (p.Ser1195Arg)
|
rs376935464
|
|
|
NM_015272.5(RPGRIP1L):c.3591G>A (p.Gln1197=)
|
rs1598241420
|
|
|
NM_015272.5(RPGRIP1L):c.3593G>A (p.Trp1198Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3605_3608del (p.Asn1202fs)
|
rs2150964195
|
|
|
NM_015272.5(RPGRIP1L):c.3607del (p.Tyr1203fs)
|
rs2150964205
|
|
|
NM_015272.5(RPGRIP1L):c.3608A>G (p.Tyr1203Cys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.360_388dup (p.Lys130fs)
|
rs2151352672
|
|
|
NM_015272.5(RPGRIP1L):c.3616+12T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3616+14A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.3616+18G>T
|
rs1053189955
|
|
|
NM_015272.5(RPGRIP1L):c.3616+1G>A
|
rs1964549409
|
|
|
NM_015272.5(RPGRIP1L):c.3616+2T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3616+2del
|
rs1964549329
|
|
|
NM_015272.5(RPGRIP1L):c.3616+9G>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3617-12C>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.3617-13T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.3617-13del
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NM_015272.5(RPGRIP1L):c.3617-13dup
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rs750499169
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NM_015272.5(RPGRIP1L):c.3617-4A>G
|
rs771975767
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NM_015272.5(RPGRIP1L):c.3617-5T>C
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NM_015272.5(RPGRIP1L):c.3617-6G>A
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NM_015272.5(RPGRIP1L):c.3617-6G>T
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rs377099270
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NM_015272.5(RPGRIP1L):c.3617-7G>T
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rs1363436397
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NM_015272.5(RPGRIP1L):c.3617-9T>C
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NM_015272.5(RPGRIP1L):c.3623A>G (p.Tyr1208Cys)
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NM_015272.5(RPGRIP1L):c.3628dup (p.Asp1210fs)
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rs2150938444
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NM_015272.5(RPGRIP1L):c.3647_3651del (p.Ala1216fs)
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rs1964001995
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NM_015272.5(RPGRIP1L):c.3648A>G (p.Ala1216=)
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rs2150938382
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NM_015272.5(RPGRIP1L):c.3651G>A (p.Lys1217=)
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NM_015272.5(RPGRIP1L):c.3655_3658dup (p.Ile1220fs)
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NM_015272.5(RPGRIP1L):c.3657C>T (p.Asp1219=)
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NM_015272.5(RPGRIP1L):c.3659T>C (p.Ile1220Thr)
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rs2150938312
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NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter)
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NM_015272.5(RPGRIP1L):c.3691C>T (p.Pro1231Ser)
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NM_015272.5(RPGRIP1L):c.3696T>C (p.Asn1232=)
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rs2150938143
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NM_015272.5(RPGRIP1L):c.3699A>G (p.Arg1233=)
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NM_015272.5(RPGRIP1L):c.3701+13A>G
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NM_015272.5(RPGRIP1L):c.3701+16C>A
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NM_015272.5(RPGRIP1L):c.3701+19A>G
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NM_015272.5(RPGRIP1L):c.3701+20A>G
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NM_015272.5(RPGRIP1L):c.3701+9T>C
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NM_015272.5(RPGRIP1L):c.3702-14C>G
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NM_015272.5(RPGRIP1L):c.3702-20T>G
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NM_015272.5(RPGRIP1L):c.3702-4C>T
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NM_015272.5(RPGRIP1L):c.3702-6T>C
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NM_015272.5(RPGRIP1L):c.3702-9C>A
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NM_015272.5(RPGRIP1L):c.3702-9C>T
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NM_015272.5(RPGRIP1L):c.3720C>T (p.Val1240=)
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NM_015272.5(RPGRIP1L):c.3735G>A (p.Glu1245=)
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NM_015272.5(RPGRIP1L):c.3748C>T (p.Leu1250=)
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NM_015272.5(RPGRIP1L):c.3750G>A (p.Leu1250=)
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NM_015272.5(RPGRIP1L):c.3753G>A (p.Glu1251=)
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NM_015272.5(RPGRIP1L):c.3759G>A (p.Glu1253=)
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NM_015272.5(RPGRIP1L):c.3765T>G (p.Ile1255Met)
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rs2150920632
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NM_015272.5(RPGRIP1L):c.3766G>T (p.Gly1256Cys)
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rs1963628196
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NM_015272.5(RPGRIP1L):c.3771G>A (p.Val1257=)
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rs1963627514
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NM_015272.5(RPGRIP1L):c.377_378insGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAACAAAA (p.Asn126fs)
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NM_015272.5(RPGRIP1L):c.377del (p.Asn126fs)
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NM_015272.5(RPGRIP1L):c.3780C>A (p.Val1260=)
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NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn)
|
rs1445612197
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NM_015272.5(RPGRIP1L):c.3789C>T (p.Ala1263=)
|
rs1963626162
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NM_015272.5(RPGRIP1L):c.379G>A (p.Glu127Lys)
|
rs2151352773
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NM_015272.5(RPGRIP1L):c.3801G>A (p.Gln1267=)
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NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
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NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)
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rs761954313
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NM_015272.5(RPGRIP1L):c.3813C>T (p.Asp1271=)
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NM_015272.5(RPGRIP1L):c.3816C>T (p.Leu1272=)
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NM_015272.5(RPGRIP1L):c.3827A>G (p.Asn1276Ser)
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rs1963622750
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NM_015272.5(RPGRIP1L):c.3829A>G (p.Ile1277Val)
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NM_015272.5(RPGRIP1L):c.3831C>A (p.Ile1277=)
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NM_015272.5(RPGRIP1L):c.3835+12A>T
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NM_015272.5(RPGRIP1L):c.3835+13G>A
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NM_015272.5(RPGRIP1L):c.3835+14T>C
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NM_015272.5(RPGRIP1L):c.3835+15G>A
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NM_015272.5(RPGRIP1L):c.3835+18G>T
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NM_015272.5(RPGRIP1L):c.3835+19C>T
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NM_015272.5(RPGRIP1L):c.3835+20_3835+34del
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NM_015272.5(RPGRIP1L):c.3835+5G>A
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rs754798360
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NM_015272.5(RPGRIP1L):c.3836-13C>G
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rs886038620
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NM_015272.5(RPGRIP1L):c.3836-16G>A
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NM_015272.5(RPGRIP1L):c.3836-18C>T
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NM_015272.5(RPGRIP1L):c.3836-19C>G
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rs1276455735
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NM_015272.5(RPGRIP1L):c.3836-19C>T
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NM_015272.5(RPGRIP1L):c.3836-21_3836-20del
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NM_015272.5(RPGRIP1L):c.3836-4C>A
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rs1233984342
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NM_015272.5(RPGRIP1L):c.3836-5C>T
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NM_015272.5(RPGRIP1L):c.3837T>G (p.Val1279=)
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rs2150909559
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NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr)
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rs2150909535
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NM_015272.5(RPGRIP1L):c.3845C>T (p.Ala1282Val)
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rs2150909524
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NM_015272.5(RPGRIP1L):c.3847C>A (p.Arg1283=)
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rs754697392
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NM_015272.5(RPGRIP1L):c.3848G>A (p.Arg1283Gln)
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NM_015272.5(RPGRIP1L):c.384C>G (p.Thr128=)
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rs2151352728
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NM_015272.5(RPGRIP1L):c.384C>T (p.Thr128=)
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rs2151352728
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NM_015272.5(RPGRIP1L):c.3864T>C (p.Gly1288=)
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rs2150909430
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NM_015272.5(RPGRIP1L):c.3880G>A (p.Val1294Ile)
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NM_015272.5(RPGRIP1L):c.3886G>A (p.Val1296Ile)
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NM_015272.5(RPGRIP1L):c.3887T>A (p.Val1296Asp)
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NM_015272.5(RPGRIP1L):c.3888C>T (p.Val1296=)
|
rs1963406998
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NM_015272.5(RPGRIP1L):c.3889G>A (p.Glu1297Lys)
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NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=)
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rs915393428
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NM_015272.5(RPGRIP1L):c.3901G>A (p.Ala1301Thr)
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NM_015272.5(RPGRIP1L):c.3912T>C (p.Ser1304=)
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rs2150909277
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NM_015272.5(RPGRIP1L):c.3935A>C (p.Asp1312Ala)
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rs1963404223
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NM_015272.5(RPGRIP1L):c.3939G>A (p.Leu1313=)
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NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter)
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rs121918201
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NM_015272.5(RPGRIP1L):c.397C>T (p.Leu133=)
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rs2151352510
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NM_015272.5(RPGRIP1L):c.411A>G (p.Lys137=)
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NM_015272.5(RPGRIP1L):c.414del (p.Gln138fs)
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NM_015272.5(RPGRIP1L):c.421C>T (p.Gln141Ter)
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rs2151352275
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NM_015272.5(RPGRIP1L):c.423A>G (p.Gln141=)
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NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter)
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rs1970430433
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NM_015272.5(RPGRIP1L):c.431G>A (p.Gly144Asp)
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rs1970430274
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NM_015272.5(RPGRIP1L):c.440A>T (p.Gln147Leu)
|
rs2151352094
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NM_015272.5(RPGRIP1L):c.441_529+79delinsTGCT
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NM_015272.5(RPGRIP1L):c.447A>C (p.Pro149=)
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NM_015272.5(RPGRIP1L):c.447A>G (p.Pro149=)
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NM_015272.5(RPGRIP1L):c.450C>T (p.Tyr150=)
|
rs748120890
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NM_015272.5(RPGRIP1L):c.458T>C (p.Val153Ala)
|
rs1970427633
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NM_015272.5(RPGRIP1L):c.459A>G (p.Val153=)
|
rs2151351733
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NM_015272.5(RPGRIP1L):c.462A>G (p.Gln154=)
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NM_015272.5(RPGRIP1L):c.467G>A (p.Arg156His)
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NM_015272.5(RPGRIP1L):c.467G>T (p.Arg156Leu)
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NM_015272.5(RPGRIP1L):c.474C>T (p.Asn158=)
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NM_015272.5(RPGRIP1L):c.477T>C (p.Thr159=)
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NM_015272.5(RPGRIP1L):c.480G>T (p.Gly160=)
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NM_015272.5(RPGRIP1L):c.482G>T (p.Arg161Leu)
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NM_015272.5(RPGRIP1L):c.483T>G (p.Arg161=)
|
rs2151351392
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NM_015272.5(RPGRIP1L):c.486A>G (p.Arg162=)
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NM_015272.5(RPGRIP1L):c.490G>A (p.Ala164Thr)
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NM_015272.5(RPGRIP1L):c.492A>G (p.Ala164=)
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NM_015272.5(RPGRIP1L):c.496G>T (p.Glu166Ter)
|
rs2151351169
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NM_015272.5(RPGRIP1L):c.503C>T (p.Ala168Val)
|
rs926999229
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NM_015272.5(RPGRIP1L):c.504T>C (p.Ala168=)
|
rs2151351081
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NM_015272.5(RPGRIP1L):c.505G>C (p.Gly169Arg)
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NM_015272.5(RPGRIP1L):c.507T>C (p.Gly169=)
|
rs2151350970
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NM_015272.5(RPGRIP1L):c.511C>T (p.Gln171Ter)
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NM_015272.5(RPGRIP1L):c.516A>G (p.Glu172=)
|
rs2151350826
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NM_015272.5(RPGRIP1L):c.519C>T (p.Cys173=)
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NM_015272.5(RPGRIP1L):c.51A>G (p.Thr17=)
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NM_015272.5(RPGRIP1L):c.525G>A (p.Arg175=)
|
rs2151350777
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NM_015272.5(RPGRIP1L):c.528del (p.Gly177fs)
|
rs1970421631
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NM_015272.5(RPGRIP1L):c.529+13T>C
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NM_015272.5(RPGRIP1L):c.529+14T>C
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NM_015272.5(RPGRIP1L):c.529+15A>G
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NM_015272.5(RPGRIP1L):c.529+16C>G
|
rs765320880
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NM_015272.5(RPGRIP1L):c.529+19T>G
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NM_015272.5(RPGRIP1L):c.529+1G>A
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NM_015272.5(RPGRIP1L):c.529+7C>G
|
rs1970421028
|
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NM_015272.5(RPGRIP1L):c.529+7C>T
|
rs1970421028
|
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NM_015272.5(RPGRIP1L):c.52_57del (p.Gly18_Leu19del)
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NM_015272.5(RPGRIP1L):c.530-10T>C
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NM_015272.5(RPGRIP1L):c.530-13A>G
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NM_015272.5(RPGRIP1L):c.530-16A>G
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NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
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NM_015272.5(RPGRIP1L):c.530-20T>C
|
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NM_015272.5(RPGRIP1L):c.530-3del
|
rs1567882035
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NM_015272.5(RPGRIP1L):c.530-8G>C
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NM_015272.5(RPGRIP1L):c.530-9T>C
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NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp)
|
rs987512823
|
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NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter)
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NM_015272.5(RPGRIP1L):c.544G>A (p.Asp182Asn)
|
rs2151325702
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NM_015272.5(RPGRIP1L):c.548C>T (p.Ala183Val)
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NM_015272.5(RPGRIP1L):c.550_551insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCAAGATGCAG (p.Asp184delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
rs2151325681
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NM_015272.5(RPGRIP1L):c.555A>G (p.Val185=)
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NM_015272.5(RPGRIP1L):c.556G>C (p.Ala186Pro)
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NM_015272.5(RPGRIP1L):c.562A>G (p.Thr188Ala)
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NM_015272.5(RPGRIP1L):c.563C>T (p.Thr188Ile)
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NM_015272.5(RPGRIP1L):c.564T>A (p.Thr188=)
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NM_015272.5(RPGRIP1L):c.582A>T (p.Thr194=)
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NM_015272.5(RPGRIP1L):c.590G>C (p.Gly197Ala)
|
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NM_015272.5(RPGRIP1L):c.591C>A (p.Gly197=)
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NM_015272.5(RPGRIP1L):c.591_598del (p.Asn198fs)
|
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NM_015272.5(RPGRIP1L):c.591del (p.Asn198fs)
|
rs1283508618
|
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NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
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NM_015272.5(RPGRIP1L):c.59A>C (p.Asn20Thr)
|
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NM_015272.5(RPGRIP1L):c.609A>C (p.Glu203Asp)
|
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NM_015272.5(RPGRIP1L):c.616G>T (p.Gly206Ter)
|
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NM_015272.5(RPGRIP1L):c.618A>G (p.Gly206=)
|
rs1970130340
|
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NM_015272.5(RPGRIP1L):c.632+16T>C
|
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NM_015272.5(RPGRIP1L):c.632+16del
|
rs559978421
|
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NM_015272.5(RPGRIP1L):c.632+1G>A
|
rs1376397728
|
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NM_015272.5(RPGRIP1L):c.632+1G>T
|
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NM_015272.5(RPGRIP1L):c.632+2T>C
|
rs2151325186
|
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NM_015272.5(RPGRIP1L):c.632+7G>A
|
rs746526374
|
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NM_015272.5(RPGRIP1L):c.632+9_632+21del
|
rs2151325015
|
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NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)
|
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NM_015272.5(RPGRIP1L):c.633-14G>T
|
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NM_015272.5(RPGRIP1L):c.633-15G>A
|
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NM_015272.5(RPGRIP1L):c.633-19C>T
|
rs2151318621
|
|
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NM_015272.5(RPGRIP1L):c.633-1G>C
|
rs2151318564
|
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|
NM_015272.5(RPGRIP1L):c.638A>G (p.Asn213Ser)
|
rs2151318519
|
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|
NM_015272.5(RPGRIP1L):c.647del (p.Gln216fs)
|
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NM_015272.5(RPGRIP1L):c.651A>C (p.Ser217=)
|
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NM_015272.5(RPGRIP1L):c.659del (p.Gly220fs)
|
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NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs)
|
rs1567902051
|
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NM_015272.5(RPGRIP1L):c.663_664dup (p.Ile222fs)
|
rs2151318273
|
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NM_015272.5(RPGRIP1L):c.669G>A (p.Glu223=)
|
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NM_015272.5(RPGRIP1L):c.66T>C (p.Phe22=)
|
rs760486367
|
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NM_015272.5(RPGRIP1L):c.676G>T (p.Glu226Ter)
|
rs2151318201
|
|
|
NM_015272.5(RPGRIP1L):c.678G>A (p.Glu226=)
|
rs1970027900
|
|
|
NM_015272.5(RPGRIP1L):c.682T>A (p.Leu228Met)
|
|
|
|
NM_015272.5(RPGRIP1L):c.699A>G (p.Lys233=)
|
rs2151318068
|
|
|
NM_015272.5(RPGRIP1L):c.6T>C (p.Ser2=)
|
rs2151417590
|
|
|
NM_015272.5(RPGRIP1L):c.702T>A (p.Thr234=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.705G>A (p.Gln235=)
|
rs752815435
|
|
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NM_015272.5(RPGRIP1L):c.706T>A (p.Leu236Met)
|
|
|
|
NM_015272.5(RPGRIP1L):c.707T>A (p.Leu236Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.712del (p.Arg238fs)
|
rs2151317974
|
|
|
NM_015272.5(RPGRIP1L):c.714A>G (p.Arg238=)
|
rs2151317940
|
|
|
NM_015272.5(RPGRIP1L):c.721A>G (p.Asn241Asp)
|
rs1970023173
|
|
|
NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs)
|
rs386833998
|
|
|
NM_015272.5(RPGRIP1L):c.726A>G (p.Glu242=)
|
rs2151317865
|
|
|
NM_015272.5(RPGRIP1L):c.734T>G (p.Leu245Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.735A>G (p.Leu245=)
|
rs2151317799
|
|
|
NM_015272.5(RPGRIP1L):c.740TTC[1] (p.Leu248del)
|
|
|
|
NM_015272.5(RPGRIP1L):c.744T>G (p.Leu248=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.745C>T (p.Gln249Ter)
|
rs1970021137
|
|
|
NM_015272.5(RPGRIP1L):c.752G>C (p.Arg251Pro)
|
rs767314963
|
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
|
NM_015272.5(RPGRIP1L):c.759G>A (p.Gln253=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.772C>T (p.Gln258Ter)
|
rs1970017927
|
|
|
NM_015272.5(RPGRIP1L):c.776+17A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.776+19A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.776+1G>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.776+2T>C
|
rs2151317483
|
|
|
NM_015272.5(RPGRIP1L):c.776+8A>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.777-12A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.777-17T>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.777-20T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.777-6C>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.777-7T>C
|
rs1969053313
|
|
|
NM_015272.5(RPGRIP1L):c.777-8C>T
|
|
|
|
NM_015272.5(RPGRIP1L):c.777-9A>T
|
rs1969053796
|
|
|
NM_015272.5(RPGRIP1L):c.779C>G (p.Ser260Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.780A>G (p.Ser260=)
|
rs201761685
|
|
|
NM_015272.5(RPGRIP1L):c.787C>A (p.Arg263=)
|
rs773626315
|
|
|
NM_015272.5(RPGRIP1L):c.789G>A (p.Arg263=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.78G>T (p.Gly26=)
|
rs1276297529
|
|
|
NM_015272.5(RPGRIP1L):c.803T>A (p.Met268Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.805A>G (p.Ile269Val)
|
|
|
|
NM_015272.5(RPGRIP1L):c.810G>A (p.Lys270=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.813T>C (p.Leu271=)
|
rs2151259061
|
|
|
NM_015272.5(RPGRIP1L):c.816T>C (p.His272=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.822G>A (p.Gln274=)
|
rs2151258993
|
|
|
NM_015272.5(RPGRIP1L):c.825A>G (p.Leu275=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.839del (p.Asn280fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.85+12T>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.85+12T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.85+17T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.85+2del
|
|
|
|
NM_015272.5(RPGRIP1L):c.86-12G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.86-12_86-8del
|
|
|
|
NM_015272.5(RPGRIP1L):c.86-18A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.86-7T>G
|
rs2151379974
|
|
|
NM_015272.5(RPGRIP1L):c.864A>G (p.Lys288=)
|
rs2151258723
|
|
|
NM_015272.5(RPGRIP1L):c.86A>C (p.Glu29Ala)
|
|
|
|
NM_015272.5(RPGRIP1L):c.874C>T (p.Leu292Phe)
|
rs1969042766
|
|
|
NM_015272.5(RPGRIP1L):c.882+10T>C
|
rs1598379616
|
|
|
NM_015272.5(RPGRIP1L):c.882+17T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.882+3A>G
|
rs1969042020
|
|
|
NM_015272.5(RPGRIP1L):c.882+9A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.882G>T (p.Glu294Asp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.883-14T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.883-15C>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.883-15_883-14del
|
|
|
|
NM_015272.5(RPGRIP1L):c.883-16T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.883-20A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.883-2A>G
|
rs1598375731
|
|
|
NM_015272.5(RPGRIP1L):c.883-3del
|
|
|
|
NM_015272.5(RPGRIP1L):c.883-6T>C
|
|
|
|
NM_015272.5(RPGRIP1L):c.883_884insT (p.Lys295fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.884A>C (p.Lys295Thr)
|
rs2151246140
|
|
|
NM_015272.5(RPGRIP1L):c.890G>A (p.Arg297Lys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.918G>A (p.Leu306=)
|
rs1968869903
|
|
|
NM_015272.5(RPGRIP1L):c.919A>T (p.Met307Leu)
|
|
|
|
NM_015272.5(RPGRIP1L):c.929G>A (p.Gly310Glu)
|
rs2151245719
|
|
|
NM_015272.5(RPGRIP1L):c.930G>A (p.Gly310=)
|
rs1968868729
|
|
|
NM_015272.5(RPGRIP1L):c.935A>C (p.Glu312Ala)
|
rs2151245683
|
|
|
NM_015272.5(RPGRIP1L):c.937T>C (p.Leu313=)
|
rs2151245638
|
|
|
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter)
|
rs1598375579
|
|
|
NM_015272.5(RPGRIP1L):c.950_951del (p.Leu317fs)
|
rs2151245549
|
|
|
NM_015272.5(RPGRIP1L):c.952A>T (p.Lys318Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.957G>A (p.Glu319=)
|
rs1968866974
|
|
|
NM_015272.5(RPGRIP1L):c.961C>T (p.Arg321Cys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.971G>C (p.Cys324Ser)
|
|
|
|
NM_015272.5(RPGRIP1L):c.972C>G (p.Cys324Trp)
|
|
|
|
NM_015272.5(RPGRIP1L):c.972C>T (p.Cys324=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)
|
rs757594906
|
|
|
NM_015272.5(RPGRIP1L):c.975C>T (p.Cys325=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.978T>C (p.Ser326=)
|
rs2151245344
|
|
|
NM_015272.5(RPGRIP1L):c.980T>G (p.Leu327Arg)
|
|
|
|
NM_015272.5(RPGRIP1L):c.981T>C (p.Leu327=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs)
|
rs1470967742
|
|
|
NM_015272.5(RPGRIP1L):c.988C>T (p.Gln330Ter)
|
rs771058410
|
|
|
NM_015272.5(RPGRIP1L):c.991T>C (p.Leu331=)
|
|
|
|
NM_015272.5(RPGRIP1L):c.992T>C (p.Leu331Ser)
|
|
|
|
NM_015272.5(RPGRIP1L):c.999T>A (p.Ser333=)
|
rs1022259426
|
|
|
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)
|
rs1022259426
|
|
|
NM_015272.5(RPGRIP1L):c.99A>G (p.Thr33=)
|
|
|
|
NM_015681.6(B9D1):c.103G>A (p.Val35Met)
|
rs2152276184
|
|
|
NM_015681.6(B9D1):c.105G>A (p.Val35=)
|
|
|
|
NM_015681.6(B9D1):c.113A>G (p.Gln38Arg)
|
rs1248771637
|
|
|
NM_015681.6(B9D1):c.124C>A (p.Pro42Thr)
|
rs2152276151
|
|
|
NM_015681.6(B9D1):c.132+11C>T
|
rs2152276135
|
|
|
NM_015681.6(B9D1):c.132+14T>C
|
|
|
|
NM_015681.6(B9D1):c.162A>C (p.Thr54=)
|
|
|
|
NM_015681.6(B9D1):c.165C>T (p.Ser55=)
|
rs368753881
|
|
|
NM_015681.6(B9D1):c.182G>A (p.Arg61Gln)
|
|
|
|
NM_015681.6(B9D1):c.189A>G (p.Ala63=)
|
|
|
|
NM_015681.6(B9D1):c.204C>A (p.Phe68Leu)
|
rs1006221533
|
|
|
NM_015681.6(B9D1):c.204C>T (p.Phe68=)
|
rs1006221533
|
|
|
NM_015681.6(B9D1):c.208A>G (p.Ile70Val)
|
|
|
|
NM_015681.6(B9D1):c.20G>A (p.Ser7Asn)
|
rs1911256730
|
|
|
NM_015681.6(B9D1):c.216C>G (p.Val72=)
|
|
|
|
NM_015681.6(B9D1):c.226A>C (p.Ser76Arg)
|
rs2152273843
|
|
|
NM_015681.6(B9D1):c.22G>A (p.Val8Ile)
|
|
|
|
NM_015681.6(B9D1):c.233A>G (p.Asn78Ser)
|
|
|
|
NM_015681.6(B9D1):c.234C>A (p.Asn78Lys)
|
rs2152273834
|
|
|
NM_015681.6(B9D1):c.234C>G (p.Asn78Lys)
|
rs2152273834
|
|
|
NM_015681.6(B9D1):c.240C>T (p.Tyr80=)
|
|
|
|
NM_015681.6(B9D1):c.244+10dup
|
rs1340872247
|
|
|
NM_015681.6(B9D1):c.244+17C>T
|
|
|
|
NM_015681.6(B9D1):c.244+19T>G
|
|
|
|
NM_015681.6(B9D1):c.245-12del
|
|
|
|
NM_015681.6(B9D1):c.245-20C>T
|
|
|
|
NM_015681.6(B9D1):c.245-9C>T
|
|
|
|
NM_015681.6(B9D1):c.255C>T (p.Ile85=)
|
|
|
|
NM_015681.6(B9D1):c.261C>G (p.Leu87=)
|
|
|
|
NM_015681.6(B9D1):c.261C>T (p.Leu87=)
|
|
|
|
NM_015681.6(B9D1):c.264C>T (p.Ser88=)
|
|
|
|
NM_015681.6(B9D1):c.26T>G (p.Phe9Cys)
|
|
|
|
NM_015681.6(B9D1):c.271G>A (p.Gly91Arg)
|
rs1238280587
|
|
|
NM_015681.6(B9D1):c.276A>C (p.Pro92=)
|
|
|
|
NM_015681.6(B9D1):c.285C>A (p.Phe95Leu)
|
rs373478202
|
|
|
NM_015681.6(B9D1):c.285C>G (p.Phe95Leu)
|
|
|
|
NM_015681.6(B9D1):c.285C>T (p.Phe95=)
|
|
|
|
NM_015681.6(B9D1):c.286G>A (p.Gly96Arg)
|
|
|
|
NM_015681.6(B9D1):c.288G>A (p.Gly96=)
|
|
|
|
NM_015681.6(B9D1):c.302G>A (p.Arg101Gln)
|
|
|
|
NM_015681.6(B9D1):c.303A>T (p.Arg101=)
|
rs1555607998
|
|
|
NM_015681.6(B9D1):c.30A>C (p.Leu10=)
|
rs781395275
|
|
|
NM_015681.6(B9D1):c.312G>A (p.Gly104=)
|
rs2152261896
|
|
|
NM_015681.6(B9D1):c.333A>T (p.Ser111=)
|
|
|
|
NM_015681.6(B9D1):c.341+15T>C
|
|
|
|
NM_015681.6(B9D1):c.341+19C>T
|
|
|
|
NM_015681.6(B9D1):c.342-10T>C
|
rs1908966319
|
|
|
NM_015681.6(B9D1):c.342-1G>T
|
|
|
|
NM_015681.6(B9D1):c.342-1_344dup
|
rs2152260983
|
|
|
NM_015681.6(B9D1):c.342-9T>C
|
|
|
|
NM_015681.6(B9D1):c.344A>G (p.His115Arg)
|
rs748742792
|
|
|
NM_015681.6(B9D1):c.358C>G (p.Pro120Ala)
|
|
|
|
NM_015681.6(B9D1):c.391C>T (p.Gln131Ter)
|
|
|
|
NM_015681.6(B9D1):c.404+10G>A
|
|
|
|
NM_015681.6(B9D1):c.404+11T>C
|
|
|
|
NM_015681.6(B9D1):c.405-13_405-11del
|
rs748543760
|
|
|
NM_015681.6(B9D1):c.405-19T>C
|
|
|
|
NM_015681.6(B9D1):c.405-9T>C
|
|
|
|
NM_015681.6(B9D1):c.415G>T (p.Gly139Trp)
|
|
|
|
NM_015681.6(B9D1):c.419G>A (p.Arg140Gln)
|
|
|
|
NM_015681.6(B9D1):c.426C>T (p.Pro142=)
|
|
|
|
NM_015681.6(B9D1):c.431A>G (p.Tyr144Cys)
|
rs1908317419
|
|
|
NM_015681.6(B9D1):c.445G>A (p.Val149Met)
|
|
|
|
NM_015681.6(B9D1):c.446TGG[1] (p.Val150del)
|
rs1064796686
|
|
|
NM_015681.6(B9D1):c.455A>G (p.Gln152Arg)
|
rs1456979116
|
|
|
NM_015681.6(B9D1):c.460G>T (p.Glu154Ter)
|
|
|
|
NM_015681.6(B9D1):c.465C>A (p.Gly155=)
|
rs748971385
|
|
|
NM_015681.6(B9D1):c.472+13C>G
|
rs2152253339
|
|
|
NM_015681.6(B9D1):c.472+15C>G
|
|
|
|
NM_015681.6(B9D1):c.472+16C>T
|
rs375227607
|
|
|
NM_015681.6(B9D1):c.473-12T>C
|
rs1330715883
|
|
|
NM_015681.6(B9D1):c.473-13del
|
|
|
|
NM_015681.6(B9D1):c.473-15C>G
|
|
|
|
NM_015681.6(B9D1):c.478C>A (p.Arg160Ser)
|
rs182767811
|
|
|
NM_015681.6(B9D1):c.480T>G (p.Arg160=)
|
|
|
|
NM_015681.6(B9D1):c.493G>C (p.Gly165Arg)
|
|
|
|
NM_015681.6(B9D1):c.49G>A (p.Val17Met)
|
|
|
|
NM_015681.6(B9D1):c.505C>G (p.Leu169Val)
|
|
|
|
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
|
|
|
|
NM_015681.6(B9D1):c.510C>G (p.Leu170=)
|
|
|
|
NM_015681.6(B9D1):c.510C>T (p.Leu170=)
|
|
|
|
NM_015681.6(B9D1):c.548A>G (p.Tyr183Cys)
|
|
|
|
NM_015681.6(B9D1):c.55A>C (p.Ser19Arg)
|
|
|
|
NM_015681.6(B9D1):c.55A>G (p.Ser19Gly)
|
rs1280021718
|
|
|
NM_015681.6(B9D1):c.579G>C (p.Val193=)
|
|
|
|
NM_015681.6(B9D1):c.602G>A (p.Ser201Asn)
|
rs1310730602
|
|
|
NM_015681.6(B9D1):c.608C>T (p.Pro203Leu)
|
|
|
|
NM_015681.6(B9D1):c.612G>T (p.Gln204His)
|
|
|
|
NM_015681.6(B9D1):c.613T>C (p.Ter205Arg)
|
rs201498591
|
|
|
NM_015681.6(B9D1):c.63+11G>A
|
rs2152278747
|
|
|
NM_015681.6(B9D1):c.63+16C>T
|
|
|
|
NM_015681.6(B9D1):c.63+19dup
|
rs2152278724
|
|
|
NM_015681.6(B9D1):c.63+20G>A
|
rs765907063
|
|
|
NM_015681.6(B9D1):c.63+20_63+43del
|
rs2152278609
|
|
|
NM_015681.6(B9D1):c.63+6C>A
|
|
|
|
NM_015681.6(B9D1):c.64-12_64-11del
|
|
|
|
NM_015681.6(B9D1):c.64-15_64-12del
|
|
|
|
NM_015681.6(B9D1):c.64-19_64-18del
|
rs2152276295
|
|
|
NM_015681.6(B9D1):c.64-5T>C
|
rs1910896502
|
|
|
NM_015681.6(B9D1):c.64-6T>C
|
|
|
|
NM_015681.6(B9D1):c.77A>C (p.Asp26Ala)
|
|
|
|
NM_015681.6(B9D1):c.83T>C (p.Leu28Pro)
|
|
|
|
NM_015681.6(B9D1):c.96C>T (p.Tyr32=)
|
rs2152276201
|
|
|
NM_015681.6(B9D1):c.9C>G (p.Thr3=)
|
rs749611797
|
|
|
NM_017777.4(MKS1):c.1007T>C (p.Val336Ala)
|
rs772205041
|
|
|
NM_017777.4(MKS1):c.1012T>C (p.Leu338=)
|
rs1968819648
|
|
|
NM_017777.4(MKS1):c.1023T>C (p.Ala341=)
|
rs2143774558
|
|
|
NM_017777.4(MKS1):c.1024+16A>T
|
|
|
|
NM_017777.4(MKS1):c.1024+1G>T
|
|
|
|
NM_017777.4(MKS1):c.1024+8A>G
|
|
|
|
NM_017777.4(MKS1):c.1024C>T (p.His342Tyr)
|
rs1357107885
|
|
|
NM_017777.4(MKS1):c.1025-18T>C
|
|
|
|
NM_017777.4(MKS1):c.1025-20A>G
|
|
|
|
NM_017777.4(MKS1):c.1025-2A>G
|
|
|
|
NM_017777.4(MKS1):c.1026C>T (p.His342=)
|
|
|
|
NM_017777.4(MKS1):c.1028G>A (p.Trp343Ter)
|
|
|
|
NM_017777.4(MKS1):c.1036C>T (p.Pro346Ser)
|
rs538164532
|
|
|
NM_017777.4(MKS1):c.1041A>G (p.Ala347=)
|
|
|
|
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
|
|
|
|
NM_017777.4(MKS1):c.1047G>C (p.Gln349His)
|
|
|
|
NM_017777.4(MKS1):c.1050G>A (p.Gln350=)
|
|
|
|
NM_017777.4(MKS1):c.1051C>G (p.Leu351Val)
|
|
|
|
NM_017777.4(MKS1):c.1058G>A (p.Gly353Glu)
|
|
|
|
NM_017777.4(MKS1):c.1058del (p.Gly353fs)
|
|
|
|
NM_017777.4(MKS1):c.1062A>G (p.Val354=)
|
rs2143757521
|
|
|
NM_017777.4(MKS1):c.1065A>G (p.Thr355=)
|
rs2143757456
|
|
|
NM_017777.4(MKS1):c.1071C>T (p.Thr357=)
|
rs939716801
|
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
|
NM_017777.4(MKS1):c.1073G>T (p.Cys358Phe)
|
|
|
|
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
|
|
|
|
NM_017777.4(MKS1):c.1077C>T (p.Thr359=)
|
rs1968672310
|
|
|
NM_017777.4(MKS1):c.1078A>G (p.Thr360Ala)
|
|
|
|
NM_017777.4(MKS1):c.1085C>G (p.Ser362Cys)
|
|
|
|
NM_017777.4(MKS1):c.1090G>A (p.Ala364Thr)
|
|
|
|
NM_017777.4(MKS1):c.1090dup (p.Ala364fs)
|
|
|
|
NM_017777.4(MKS1):c.1092A>C (p.Ala364=)
|
rs1379453194
|
|
|
NM_017777.4(MKS1):c.1094T>C (p.Met365Thr)
|
|
|
|
NM_017777.4(MKS1):c.1095+10A>G
|
|
|
|
NM_017777.4(MKS1):c.1095+14G>A
|
|
|
|
NM_017777.4(MKS1):c.1095+14G>T
|
rs2143756719
|
|
|
NM_017777.4(MKS1):c.1095+17C>T
|
|
|
|
NM_017777.4(MKS1):c.1095+2T>C
|
rs2143756871
|
|
|
NM_017777.4(MKS1):c.1096-10C>A
|
|
|
|
NM_017777.4(MKS1):c.1096-10C>G
|
rs766137727
|
|
|
NM_017777.4(MKS1):c.1096-19A>C
|
|
|
|
NM_017777.4(MKS1):c.1096-20T>A
|
|
|
|
NM_017777.4(MKS1):c.1096-20del
|
|
|
|
NM_017777.4(MKS1):c.1096-4A>G
|
rs1320626045
|
|
|
NM_017777.4(MKS1):c.1096-5del
|
rs2143753890
|
|
|
NM_017777.4(MKS1):c.1096-7T>C
|
rs2143753917
|
|
|
NM_017777.4(MKS1):c.1096-9T>C
|
rs2143753947
|
|
|
NM_017777.4(MKS1):c.1096G>T (p.Asp366Tyr)
|
rs2143753811
|
|
|
NM_017777.4(MKS1):c.1098C>T (p.Asp366=)
|
rs1374437999
|
|
|
NM_017777.4(MKS1):c.10A>G (p.Thr4Ala)
|
rs928775924
|
|
|
NM_017777.4(MKS1):c.1113C>T (p.Phe371=)
|
|
|
|
NM_017777.4(MKS1):c.1115C>T (p.Ser372Phe)
|
rs1433377596
|
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
|
NM_017777.4(MKS1):c.1116C>T (p.Ser372=)
|
|
|
|
NM_017777.4(MKS1):c.111dup (p.Phe38fs)
|
|
|
|
NM_017777.4(MKS1):c.1121C>G (p.Pro374Arg)
|
rs773157492
|
|
|
NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu)
|
rs773157492
|
|
|
NM_017777.4(MKS1):c.1122A>G (p.Pro374=)
|
|
|
|
NM_017777.4(MKS1):c.1126dup (p.Thr376fs)
|
rs2143753386
|
|
|
NM_017777.4(MKS1):c.1128G>T (p.Thr376=)
|
rs369141016
|
|
|
NM_017777.4(MKS1):c.1137C>T (p.Ala379=)
|
|
|
|
NM_017777.4(MKS1):c.1138T>G (p.Phe380Val)
|
|
|
|
NM_017777.4(MKS1):c.1140C>T (p.Phe380=)
|
|
|
|
NM_017777.4(MKS1):c.1149T>C (p.His383=)
|
|
|
|
NM_017777.4(MKS1):c.114dup (p.Leu39fs)
|
|
|
|
NM_017777.4(MKS1):c.1158A>G (p.Glu386=)
|
rs797045705
|
|
|
NM_017777.4(MKS1):c.1158del (p.Glu386fs)
|
|
|
|
NM_017777.4(MKS1):c.1165+18T>A
|
|
|
|
NM_017777.4(MKS1):c.1165+7del
|
|
|
|
NM_017777.4(MKS1):c.1165+9C>T
|
|
|
|
NM_017777.4(MKS1):c.1166-11C>T
|
|
|
|
NM_017777.4(MKS1):c.1166-16C>G
|
|
|
|
NM_017777.4(MKS1):c.1166-1G>C
|
rs776174898
|
|
|
NM_017777.4(MKS1):c.1166-20G>A
|
|
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
|
NM_017777.4(MKS1):c.1166-5C>T
|
|
|
|
NM_017777.4(MKS1):c.1167T>C (p.Asp389=)
|
|
|
|
NM_017777.4(MKS1):c.1176G>C (p.Pro392=)
|
rs775169308
|
|
|
NM_017777.4(MKS1):c.1176G>T (p.Pro392=)
|
rs775169308
|
|
|
NM_017777.4(MKS1):c.1185T>C (p.Pro395=)
|
|
|
|
NM_017777.4(MKS1):c.1191C>G (p.Leu397=)
|
|
|
|
NM_017777.4(MKS1):c.1192T>C (p.Tyr398His)
|
rs1968629952
|
|
|
NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser)
|
rs144764478
|
|
|
NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe)
|
rs144764478
|
|
|
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
|
|
|
|
NM_017777.4(MKS1):c.1203C>A (p.Val401=)
|
|
|
|
NM_017777.4(MKS1):c.1204_1208dup (p.Leu404fs)
|
rs2143751393
|
|
|
NM_017777.4(MKS1):c.1206C>T (p.Leu402=)
|
rs202040080
|
|
|
NM_017777.4(MKS1):c.1210C>T (p.Leu404=)
|
|
|
|
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn)
|
rs372554696
|
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
|
NM_017777.4(MKS1):c.1224G>A (p.Gln408=)
|
rs1216137211
|
|
|
NM_017777.4(MKS1):c.1229A>T (p.Tyr410Phe)
|
|
|
|
NM_017777.4(MKS1):c.1231C>T (p.Arg411Cys)
|
|
|
|
NM_017777.4(MKS1):c.1232G>A (p.Arg411His)
|
rs200679238
|
|
|
NM_017777.4(MKS1):c.1232G>C (p.Arg411Pro)
|
rs200679238
|
|
|
NM_017777.4(MKS1):c.1240G>A (p.Gly414Ser)
|
rs1178459205
|
|
|
NM_017777.4(MKS1):c.1244A>G (p.Tyr415Cys)
|
|
|
|
NM_017777.4(MKS1):c.1245T>C (p.Tyr415=)
|
rs1968622013
|
|
|
NM_017777.4(MKS1):c.124C>T (p.Gln42Ter)
|
rs1969405671
|
|
|
NM_017777.4(MKS1):c.1254G>A (p.Val418=)
|
rs2143750611
|
|
|
NM_017777.4(MKS1):c.1261C>G (p.Pro421Ala)
|
|
|
|
NM_017777.4(MKS1):c.1265C>T (p.Ala422Val)
|
|
|
|
NM_017777.4(MKS1):c.1267A>G (p.Thr423Ala)
|
|
|
|
NM_017777.4(MKS1):c.1273+10C>T
|
|
|
|
NM_017777.4(MKS1):c.1273+13C>A
|
|
|
|
NM_017777.4(MKS1):c.1273+17G>A
|
|
|
|
NM_017777.4(MKS1):c.1273+17del
|
rs2143750048
|
|
|
NM_017777.4(MKS1):c.1273+18C>A
|
|
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
|
NM_017777.4(MKS1):c.1273+7G>T
|
rs569463908
|
|
|
NM_017777.4(MKS1):c.1274-10C>G
|
rs751088795
|
|
|
NM_017777.4(MKS1):c.1274-13T>A
|
|
|
|
NM_017777.4(MKS1):c.1274-14C>T
|
|
|
|
NM_017777.4(MKS1):c.1274-16C>T
|
|
|
|
NM_017777.4(MKS1):c.1274-18T>C
|
|
|
|
NM_017777.4(MKS1):c.1274-2A>C
|
|
|
|
NM_017777.4(MKS1):c.1274-4G>T
|
rs377033778
|
|
|
NM_017777.4(MKS1):c.1274-7T>C
|
|
|
|
NM_017777.4(MKS1):c.1274-9dup
|
|
|
|
NM_017777.4(MKS1):c.1281C>T (p.His427=)
|
rs2143744776
|
|
|
NM_017777.4(MKS1):c.1282A>T (p.Thr428Ser)
|
|
|
|
NM_017777.4(MKS1):c.1284C>G (p.Thr428=)
|
|
|
|
NM_017777.4(MKS1):c.128C>G (p.Pro43Arg)
|
rs1311306088
|
|
|
NM_017777.4(MKS1):c.1295C>A (p.Ser432Tyr)
|
|
|
|
NM_017777.4(MKS1):c.1299G>T (p.Thr433=)
|
rs749503564
|
|
|
NM_017777.4(MKS1):c.1301G>A (p.Trp434Ter)
|
rs2143744476
|
|
|
NM_017777.4(MKS1):c.1305A>G (p.Arg435=)
|
rs1007814770
|
|
|
NM_017777.4(MKS1):c.1323G>A (p.Thr441=)
|
rs781038098
|
|
|
NM_017777.4(MKS1):c.1323G>C (p.Thr441=)
|
|
|
|
NM_017777.4(MKS1):c.1326G>A (p.Val442=)
|
rs569499621
|
|
|
NM_017777.4(MKS1):c.1341G>A (p.Arg447=)
|
rs1294257326
|
|
|
NM_017777.4(MKS1):c.1342T>G (p.Phe448Val)
|
|
|
|
NM_017777.4(MKS1):c.1353C>A (p.Gly451=)
|
rs764549118
|
|
|
NM_017777.4(MKS1):c.1353C>G (p.Gly451=)
|
|
|
|
NM_017777.4(MKS1):c.1354G>A (p.Gly452Ser)
|
|
|
|
NM_017777.4(MKS1):c.1355G>A (p.Gly452Asp)
|
rs2143743650
|
|
|
NM_017777.4(MKS1):c.135C>G (p.Ala45=)
|
|
|
|
NM_017777.4(MKS1):c.135C>T (p.Ala45=)
|
|
|
|
NM_017777.4(MKS1):c.1365del (p.Glu455fs)
|
|
|
|
NM_017777.4(MKS1):c.1369G>C (p.Glu457Gln)
|
rs1968562983
|
|
|
NM_017777.4(MKS1):c.136G>T (p.Glu46Ter)
|
rs183617764
|
|
|
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)
|
rs730882120
|
|
|
NM_017777.4(MKS1):c.1387C>A (p.Arg463=)
|
|
|
|
NM_017777.4(MKS1):c.1387C>G (p.Arg463Gly)
|
rs766392300
|
|
|
NM_017777.4(MKS1):c.1389G>T (p.Arg463=)
|
rs773269657
|
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
|
NM_017777.4(MKS1):c.1397G>C (p.Gly466Ala)
|
|
|
|
NM_017777.4(MKS1):c.1399_1407+4del
|
rs2143742869
|
|
|
NM_017777.4(MKS1):c.1407+10G>A
|
|
|
|
NM_017777.4(MKS1):c.1407+19G>A
|
|
|
|
NM_017777.4(MKS1):c.1407+1G>A
|
rs1567795088
|
|
|
NM_017777.4(MKS1):c.1407+20_1407+25del
|
|
|
|
NM_017777.4(MKS1):c.1407+9T>A
|
rs2143742823
|
|
|
NM_017777.4(MKS1):c.1408-13T>C
|
rs2143738734
|
|
|
NM_017777.4(MKS1):c.1408-14A>G
|
|
|
|
NM_017777.4(MKS1):c.1408-18C>A
|
rs2143738791
|
|
|
NM_017777.4(MKS1):c.1408-1dup
|
rs762668200
|
|
|
NM_017777.4(MKS1):c.1408-20G>C
|
|
|
|
NM_017777.4(MKS1):c.1408-21T>G
|
|
|
|
NM_017777.4(MKS1):c.1408-23G>A
|
|
|
|
NM_017777.4(MKS1):c.1408-28C>G
|
|
|
|
NM_017777.4(MKS1):c.1408-29C>T
|
rs2143738957
|
|
|
NM_017777.4(MKS1):c.1408-2_1408-1del
|
|
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
|
NM_017777.4(MKS1):c.1408-35C>T
|
rs2143738994
|
|
|
NM_017777.4(MKS1):c.1408-9A>G
|
|
|
|
NM_017777.4(MKS1):c.1410G>A (p.Gly470=)
|
rs2143738492
|
|
|
NM_017777.4(MKS1):c.1413A>G (p.Glu471=)
|
rs1597975817
|
|
|
NM_017777.4(MKS1):c.1414C>G (p.Arg472Gly)
|
rs181513926
|
|
|
NM_017777.4(MKS1):c.1416C>G (p.Arg472=)
|
|
|
|
NM_017777.4(MKS1):c.141C>A (p.Leu47=)
|
rs1598006779
|
|
|
NM_017777.4(MKS1):c.141C>T (p.Leu47=)
|
rs1598006779
|
|
|
NM_017777.4(MKS1):c.1422C>T (p.Ser474=)
|
rs1597975737
|
|
|
NM_017777.4(MKS1):c.1423C>T (p.Arg475Cys)
|
|
|
|
NM_017777.4(MKS1):c.1424G>T (p.Arg475Leu)
|
|
|
|
NM_017777.4(MKS1):c.1425C>A (p.Arg475=)
|
rs2143738206
|
|
|
NM_017777.4(MKS1):c.1434C>T (p.Leu478=)
|
rs1463944569
|
|
|
NM_017777.4(MKS1):c.1436G>T (p.Arg479Leu)
|
|
|
|
NM_017777.4(MKS1):c.1446C>T (p.Thr482=)
|
rs2143737944
|
|
|
NM_017777.4(MKS1):c.1449A>G (p.Thr483=)
|
rs2143737889
|
|
|
NM_017777.4(MKS1):c.144G>C (p.Gly48=)
|
rs2143838897
|
|
|
NM_017777.4(MKS1):c.1450G>T (p.Gly484Cys)
|
rs1473936553
|
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
|
NM_017777.4(MKS1):c.1458C>T (p.Val486=)
|
|
|
|
NM_017777.4(MKS1):c.1460C>T (p.Thr487Ile)
|
rs2143737729
|
|
|
NM_017777.4(MKS1):c.1468T>G (p.Leu490Val)
|
rs2143737631
|
|
|
NM_017777.4(MKS1):c.1470G>A (p.Leu490=)
|
rs1968517645
|
|
|
NM_017777.4(MKS1):c.1471C>T (p.His491Tyr)
|
|
|
|
NM_017777.4(MKS1):c.1476T>C (p.Cys492=)
|
|
|
|
NM_017777.4(MKS1):c.1478T>C (p.Leu493Pro)
|
|
|
|
NM_017777.4(MKS1):c.147G>A (p.Lys49=)
|
rs2143838854
|
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
|
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter)
|
rs2143737457
|
|
|
NM_017777.4(MKS1):c.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG
|
|
|
|
NM_017777.4(MKS1):c.148G>A (p.Asp50Asn)
|
|
|
|
NM_017777.4(MKS1):c.1490+15C>A
|
|
|
|
NM_017777.4(MKS1):c.1490+17T>A
|
|
|
|
NM_017777.4(MKS1):c.1490+18C>G
|
|
|
|
NM_017777.4(MKS1):c.1490+1G>A
|
rs2143737350
|
|
|
NM_017777.4(MKS1):c.1490+1G>T
|
|
|
|
NM_017777.4(MKS1):c.1490+8A>T
|
|
|
|
NM_017777.4(MKS1):c.1490+9C>T
|
rs1555596804
|
|
|
NM_017777.4(MKS1):c.1491-10C>T
|
|
|
|
NM_017777.4(MKS1):c.1491-13G>A
|
rs2143736475
|
|
|
NM_017777.4(MKS1):c.1491-15C>G
|
|
|
|
NM_017777.4(MKS1):c.1491-17G>T
|
|
|
|
NM_017777.4(MKS1):c.1491-20T>C
|
|
|
|
NM_017777.4(MKS1):c.1491-4G>A
|
rs1555596758
|
|
|
NM_017777.4(MKS1):c.1491-4G>T
|
rs1555596758
|
|
|
NM_017777.4(MKS1):c.1491-7C>T
|
|
|
|
NM_017777.4(MKS1):c.1491-8C>A
|
|
|
|
NM_017777.4(MKS1):c.1497C>T (p.Phe499=)
|
|
|
|
NM_017777.4(MKS1):c.149del (p.Asp50fs)
|
|
|
|
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp)
|
rs758838271
|
|
|
NM_017777.4(MKS1):c.1505C>T (p.Ser502Leu)
|
rs758838271
|
|
|
NM_017777.4(MKS1):c.1507A>G (p.Ser503Gly)
|
rs1328968692
|
|
|
NM_017777.4(MKS1):c.1513C>T (p.Leu505Phe)
|
rs1968506619
|
|
|
NM_017777.4(MKS1):c.1515T>A (p.Leu505=)
|
|
|
|
NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)
|
|
|
|
NM_017777.4(MKS1):c.1528C>A (p.Arg510=)
|
|
|
|
NM_017777.4(MKS1):c.1530G>A (p.Arg510=)
|
|
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
|
NM_017777.4(MKS1):c.1532_1533insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGGATGCGGAG (p.Ser511fs)
|
|
|
|
NM_017777.4(MKS1):c.1535T>C (p.Val512Ala)
|
rs1567794194
|
|
|
NM_017777.4(MKS1):c.1538T>C (p.Leu513Ser)
|
rs1968503638
|
|
|
NM_017777.4(MKS1):c.1544G>A (p.Arg515His)
|
rs200658872
|
|
|
NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu)
|
rs200658872
|
|
|
NM_017777.4(MKS1):c.1557C>T (p.Phe519=)
|
rs1433060710
|
|
|
NM_017777.4(MKS1):c.1560C>T (p.Ser520=)
|
rs2143735433
|
|
|
NM_017777.4(MKS1):c.1567A>G (p.Ser523Gly)
|
rs1968502243
|
|
|
NM_017777.4(MKS1):c.1575T>A (p.Ile525=)
|
|
|
|
NM_017777.4(MKS1):c.1578C>T (p.His526=)
|
|
|
|
NM_017777.4(MKS1):c.1588+10del
|
|
|
|
NM_017777.4(MKS1):c.1588+12C>G
|
rs762501967
|
|
|
NM_017777.4(MKS1):c.1588+15C>G
|
|
|
|
NM_017777.4(MKS1):c.1588+16C>A
|
|
|
|
NM_017777.4(MKS1):c.1588+16C>G
|
|
|
|
NM_017777.4(MKS1):c.1588+20T>C
|
rs2143734918
|
|
|
NM_017777.4(MKS1):c.1588+3A>G
|
|
|
|
NM_017777.4(MKS1):c.1588+7C>A
|
|
|
|
NM_017777.4(MKS1):c.1588+7C>T
|
|
|
|
NM_017777.4(MKS1):c.1589-10T>A
|
rs2143734265
|
|
|
NM_017777.4(MKS1):c.1589-11T>C
|
|
|
|
NM_017777.4(MKS1):c.1589-15C>G
|
|
|
|
NM_017777.4(MKS1):c.1589-19A>G
|
|
|
|
NM_017777.4(MKS1):c.1589-19A>T
|
|
|
|
NM_017777.4(MKS1):c.1589-2A>G
|
|
|
|
NM_017777.4(MKS1):c.1589-2A>T
|
rs863225207
|
|
|
NM_017777.4(MKS1):c.1590G>A (p.Glu530=)
|
|
|
|
NM_017777.4(MKS1):c.1598G>A (p.Arg533His)
|
rs779093781
|
|
|
NM_017777.4(MKS1):c.1598G>T (p.Arg533Leu)
|
rs779093781
|
|
|
NM_017777.4(MKS1):c.159C>T (p.Asp53=)
|
rs907068935
|
|
|
NM_017777.4(MKS1):c.1600C>A (p.Arg534=)
|
rs772719574
|
|
|
NM_017777.4(MKS1):c.1605C>T (p.Ala535=)
|
rs35493987
|
|
|
NM_017777.4(MKS1):c.1608G>A (p.Arg536=)
|
rs2143733718
|
|
|
NM_017777.4(MKS1):c.1610G>A (p.Arg537His)
|
rs771624307
|
|
|
NM_017777.4(MKS1):c.1612C>T (p.Arg538Cys)
|
|
|
|
NM_017777.4(MKS1):c.1613G>C (p.Arg538Pro)
|
|
|
|
NM_017777.4(MKS1):c.1613G>T (p.Arg538Leu)
|
rs557678962
|
|
|
NM_017777.4(MKS1):c.1617G>T (p.Met539Ile)
|
|
|
|
NM_017777.4(MKS1):c.1619del (p.Gln540fs)
|
|
|
|
NM_017777.4(MKS1):c.161T>A (p.Leu54Ter)
|
rs2143838681
|
|
|
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)
|
rs1555596538
|
|
|
NM_017777.4(MKS1):c.162G>C (p.Leu54Phe)
|
|
|
|
NM_017777.4(MKS1):c.1630G>A (p.Glu544Lys)
|
|
|
|
NM_017777.4(MKS1):c.1635C>A (p.Ser545Arg)
|
|
|
|
NM_017777.4(MKS1):c.1635C>G (p.Ser545Arg)
|
|
|
|
NM_017777.4(MKS1):c.165C>A (p.Ala55=)
|
|
|
|
NM_017777.4(MKS1):c.1671G>A (p.Leu557=)
|
rs11548967
|
|
|
NM_017777.4(MKS1):c.1671G>T (p.Leu557=)
|
rs11548967
|
|
|
NM_017777.4(MKS1):c.1677C>T (p.Ser559=)
|
rs921675582
|
|
|
NM_017777.4(MKS1):c.177T>G (p.Pro59=)
|
rs2143838526
|
|
|
NM_017777.4(MKS1):c.17G>A (p.Trp6Ter)
|
|
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
|
NM_017777.4(MKS1):c.190+11C>G
|
|
|
|
NM_017777.4(MKS1):c.190+11C>T
|
rs529293609
|
|
|
NM_017777.4(MKS1):c.190+15G>T
|
|
|
|
NM_017777.4(MKS1):c.190+1G>A
|
|
|
|
NM_017777.4(MKS1):c.190+20T>C
|
|
|
|
NM_017777.4(MKS1):c.190+8dup
|
rs766767996
|
|
|
NM_017777.4(MKS1):c.191-10G>T
|
rs756533204
|
|
|
NM_017777.4(MKS1):c.191-12T>C
|
|
|
|
NM_017777.4(MKS1):c.191-17C>T
|
|
|
|
NM_017777.4(MKS1):c.191-19C>G
|
|
|
|
NM_017777.4(MKS1):c.191-9T>C
|
rs2143823943
|
|
|
NM_017777.4(MKS1):c.193G>C (p.Gly65Arg)
|
|
|
|
NM_017777.4(MKS1):c.201C>G (p.Arg67=)
|
rs2143823724
|
|
|
NM_017777.4(MKS1):c.203del (p.Pro68fs)
|
|
|
|
NM_017777.4(MKS1):c.204A>G (p.Pro68=)
|
|
|
|
NM_017777.4(MKS1):c.205G>T (p.Glu69Ter)
|
|
|
|
NM_017777.4(MKS1):c.207G>A (p.Glu69=)
|
rs1969242335
|
|
|
NM_017777.4(MKS1):c.20G>A (p.Ser7Asn)
|
|
|
|
NM_017777.4(MKS1):c.213C>T (p.Asp71=)
|
rs142813109
|
|
|
NM_017777.4(MKS1):c.216A>C (p.Glu72Asp)
|
rs2143823461
|
|
|
NM_017777.4(MKS1):c.219G>A (p.Glu73=)
|
|
|
|
NM_017777.4(MKS1):c.222G>A (p.Glu74=)
|
|
|
|
NM_017777.4(MKS1):c.225G>A (p.Glu75=)
|
rs775351056
|
|
|
NM_017777.4(MKS1):c.225G>T (p.Glu75Asp)
|
rs775351056
|
|
|
NM_017777.4(MKS1):c.229G>A (p.Val77Met)
|
rs1198645467
|
|
|
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)
|
rs786204222
|
|
|
NM_017777.4(MKS1):c.237G>A (p.Gly79=)
|
rs2143823165
|
|
|
NM_017777.4(MKS1):c.23C>G (p.Thr8Ser)
|
|
|
|
NM_017777.4(MKS1):c.240G>A (p.Trp80Ter)
|
|
|
|
NM_017777.4(MKS1):c.252C>T (p.Leu84=)
|
rs969699321
|
|
|
NM_017777.4(MKS1):c.261+10T>C
|
rs781466261
|
|
|
NM_017777.4(MKS1):c.261+10T>G
|
rs781466261
|
|
|
NM_017777.4(MKS1):c.261+15C>G
|
|
|
|
NM_017777.4(MKS1):c.261+16_261+17del
|
|
|
|
NM_017777.4(MKS1):c.262-10G>A
|
rs772852025
|
|
|
NM_017777.4(MKS1):c.262-10G>C
|
|
|
|
NM_017777.4(MKS1):c.262-12T>C
|
|
|
|
NM_017777.4(MKS1):c.262-13A>G
|
|
|
|
NM_017777.4(MKS1):c.262-16C>T
|
|
|
|
NM_017777.4(MKS1):c.262-19T>C
|
|
|
|
NM_017777.4(MKS1):c.262-7_262-6del
|
rs2143820463
|
|
|
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser)
|
rs886053170
|
|
|
NM_017777.4(MKS1):c.276G>A (p.Leu92=)
|
|
|
|
NM_017777.4(MKS1):c.282A>G (p.Gln94=)
|
|
|
|
NM_017777.4(MKS1):c.285T>C (p.Asn95=)
|
|
|
|
NM_017777.4(MKS1):c.291A>G (p.Thr97=)
|
rs1597999676
|
|
|
NM_017777.4(MKS1):c.297T>A (p.Cys99Ter)
|
|
|
|
NM_017777.4(MKS1):c.2T>A (p.Met1Lys)
|
|
|
|
NM_017777.4(MKS1):c.2T>C (p.Met1Thr)
|
|
|
|
NM_017777.4(MKS1):c.301_302dup (p.Ser101fs)
|
|
|
|
NM_017777.4(MKS1):c.30C>G (p.Thr10=)
|
rs576239597
|
|
|
NM_017777.4(MKS1):c.318G>A (p.Gln106=)
|
|
|
|
NM_017777.4(MKS1):c.31G>C (p.Gly11Arg)
|
rs762103206
|
|
|
NM_017777.4(MKS1):c.31G>T (p.Gly11Trp)
|
|
|
|
NM_017777.4(MKS1):c.324T>C (p.Arg108=)
|
rs1007384458
|
|
|
NM_017777.4(MKS1):c.32G>C (p.Gly11Ala)
|
rs375223375
|
|
|
NM_017777.4(MKS1):c.34G>T (p.Glu12Ter)
|
rs1183365510
|
|
|
NM_017777.4(MKS1):c.351G>C (p.Ser117=)
|
rs370781583
|
|
|
NM_017777.4(MKS1):c.354T>G (p.Gly118=)
|
rs1969193189
|
|
|
NM_017777.4(MKS1):c.369A>G (p.Arg123=)
|
rs997559994
|
|
|
NM_017777.4(MKS1):c.381C>G (p.Thr127=)
|
|
|
|
NM_017777.4(MKS1):c.384C>A (p.Tyr128Ter)
|
|
|
|
NM_017777.4(MKS1):c.385A>T (p.Thr129Ser)
|
|
|
|
NM_017777.4(MKS1):c.38C>A (p.Ala13Glu)
|
rs1969448667
|
|
|
NM_017777.4(MKS1):c.390C>T (p.Asp130=)
|
|
|
|
NM_017777.4(MKS1):c.398G>C (p.Arg133Thr)
|
rs2143819004
|
|
|
NM_017777.4(MKS1):c.39A>G (p.Ala13=)
|
|
|
|
NM_017777.4(MKS1):c.400T>C (p.Tyr134His)
|
rs1969185710
|
|
|
NM_017777.4(MKS1):c.405C>A (p.Thr135=)
|
|
|
|
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr)
|
rs1969184476
|
|
|
NM_017777.4(MKS1):c.411G>A (p.Leu137=)
|
|
|
|
NM_017777.4(MKS1):c.414G>T (p.Glu138Asp)
|
|
|
|
NM_017777.4(MKS1):c.417+10T>C
|
rs780977789
|
|
|
NM_017777.4(MKS1):c.417+13C>T
|
|
|
|
NM_017777.4(MKS1):c.417+15A>G
|
|
|
|
NM_017777.4(MKS1):c.417+1G>A
|
rs756368560
|
|
|
NM_017777.4(MKS1):c.417+1G>T
|
rs756368560
|
|
|
NM_017777.4(MKS1):c.418-3C>T
|
|
|
|
NM_017777.4(MKS1):c.418-4C>G
|
rs2143809915
|
|
|
NM_017777.4(MKS1):c.427A>C (p.Arg143=)
|
|
|
|
NM_017777.4(MKS1):c.438T>C (p.Thr146=)
|
|
|
|
NM_017777.4(MKS1):c.442G>C (p.Ala148Pro)
|
rs1969097203
|
|
|
NM_017777.4(MKS1):c.449A>T (p.Glu150Val)
|
|
|
|
NM_017777.4(MKS1):c.453G>A (p.Val151=)
|
|
|
|
NM_017777.4(MKS1):c.453_454delinsAA (p.Pro152Thr)
|
rs2143809459
|
|
|
NM_017777.4(MKS1):c.457T>G (p.Ser153Ala)
|
rs2143809333
|
|
|
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)
|
rs903778224
|
|
|
NM_017777.4(MKS1):c.45T>C (p.Tyr15=)
|
|
|
|
NM_017777.4(MKS1):c.468C>G (p.Val156=)
|
rs199684837
|
|
|
NM_017777.4(MKS1):c.469G>T (p.Glu157Ter)
|
rs200970148
|
|
|
NM_017777.4(MKS1):c.473G>A (p.Arg158Gln)
|
rs373471917
|
|
|
NM_017777.4(MKS1):c.478G>A (p.Ala160Thr)
|
|
|
|
NM_017777.4(MKS1):c.47G>A (p.Arg16His)
|
rs1969447926
|
|
|
NM_017777.4(MKS1):c.483T>C (p.Asn161=)
|
rs1472188901
|
|
|
NM_017777.4(MKS1):c.490C>T (p.Arg164Cys)
|
|
|
|
NM_017777.4(MKS1):c.492T>A (p.Arg164=)
|
rs2143808753
|
|
|
NM_017777.4(MKS1):c.492_497del (p.Arg165_Arg166del)
|
|
|
|
NM_017777.4(MKS1):c.493_494insTTC (p.Arg164_Arg165insLeu)
|
rs2143808702
|
|
|
NM_017777.4(MKS1):c.498G>A (p.Arg166=)
|
rs778956664
|
|
|
NM_017777.4(MKS1):c.499C>T (p.Gln167Ter)
|
rs1215189491
|
|
|
NM_017777.4(MKS1):c.50C>T (p.Ser17Phe)
|
|
|
|
NM_017777.4(MKS1):c.513G>C (p.Gly171=)
|
rs2143808375
|
|
|
NM_017777.4(MKS1):c.513G>T (p.Gly171=)
|
|
|
|
NM_017777.4(MKS1):c.515+13A>G
|
|
|
|
NM_017777.4(MKS1):c.515+13A>T
|
|
|
|
NM_017777.4(MKS1):c.515+15G>T
|
|
|
|
NM_017777.4(MKS1):c.515+19T>C
|
|
|
|
NM_017777.4(MKS1):c.515+2T>C
|
rs1376664664
|
|
|
NM_017777.4(MKS1):c.515+9G>C
|
rs752279060
|
|
|
NM_017777.4(MKS1):c.515+9G>T
|
|
|
|
NM_017777.4(MKS1):c.516-2A>G
|
rs2143805609
|
|
|
NM_017777.4(MKS1):c.516-5C>A
|
|
|
|
NM_017777.4(MKS1):c.516-9G>A
|
rs1969068781
|
|
|
NM_017777.4(MKS1):c.517G>T (p.Glu173Ter)
|
|
|
|
NM_017777.4(MKS1):c.519G>A (p.Glu173=)
|
rs901476301
|
|
|
NM_017777.4(MKS1):c.521G>A (p.Gly174Asp)
|
rs2143805491
|
|
|
NM_017777.4(MKS1):c.522C>A (p.Gly174=)
|
|
|
|
NM_017777.4(MKS1):c.528C>T (p.Ile176=)
|
rs2143805374
|
|
|
NM_017777.4(MKS1):c.528_644+12del
|
|
|
|
NM_017777.4(MKS1):c.52C>A (p.Arg18=)
|
rs557896607
|
|
|
NM_017777.4(MKS1):c.539G>C (p.Arg180Pro)
|
|
|
|
NM_017777.4(MKS1):c.53G>A (p.Arg18Gln)
|
|
|
|
NM_017777.4(MKS1):c.546C>T (p.Val182=)
|
rs1969065058
|
|
|
NM_017777.4(MKS1):c.548C>T (p.Thr183Ile)
|
rs775805558
|
|
|
NM_017777.4(MKS1):c.555G>A (p.Glu185=)
|
rs2143804915
|
|
|
NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr)
|
rs863225205
|
|
|
NM_017777.4(MKS1):c.564A>G (p.Glu188=)
|
rs2143804818
|
|
|
NM_017777.4(MKS1):c.564_565insTTCT (p.Glu189delinsPheTer)
|
rs1969063562
|
|
|
NM_017777.4(MKS1):c.567G>A (p.Glu189=)
|
|
|
|
NM_017777.4(MKS1):c.573C>G (p.Val191=)
|
rs1247479841
|
|
|
NM_017777.4(MKS1):c.582C>T (p.Asn194=)
|
rs940590057
|
|
|
NM_017777.4(MKS1):c.598C>T (p.Pro200Ser)
|
rs1969060676
|
|
|
NM_017777.4(MKS1):c.600T>G (p.Pro200=)
|
|
|
|
NM_017777.4(MKS1):c.60C>A (p.Pro20=)
|
|
|
|
NM_017777.4(MKS1):c.60C>T (p.Pro20=)
|
|
|
|
NM_017777.4(MKS1):c.618C>A (p.Ile206=)
|
|
|
|
NM_017777.4(MKS1):c.618C>G (p.Ile206Met)
|
|
|
|
NM_017777.4(MKS1):c.624A>G (p.Ala208=)
|
|
|
|
NM_017777.4(MKS1):c.62T>G (p.Val21Gly)
|
|
|
|
NM_017777.4(MKS1):c.632G>A (p.Gly211Glu)
|
|
|
|
NM_017777.4(MKS1):c.633del (p.Tyr213fs)
|
|
|
|
NM_017777.4(MKS1):c.637T>C (p.Tyr213His)
|
rs780721543
|
|
|
NM_017777.4(MKS1):c.639T>A (p.Tyr213Ter)
|
rs746647549
|
|
|
NM_017777.4(MKS1):c.640A>G (p.Lys214Glu)
|
|
|
|
NM_017777.4(MKS1):c.644+15T>A
|
rs2143803705
|
|
|
NM_017777.4(MKS1):c.644+18C>T
|
|
|
|
NM_017777.4(MKS1):c.645-12_645-10del
|
rs2143800934
|
|
|
NM_017777.4(MKS1):c.645-13del
|
|
|
|
NM_017777.4(MKS1):c.645-18T>C
|
|
|
|
NM_017777.4(MKS1):c.645-2A>T
|
rs773036963
|
|
|
NM_017777.4(MKS1):c.645-7T>C
|
|
|
|
NM_017777.4(MKS1):c.645G>C (p.Lys215Asn)
|
rs1969031350
|
|
|
NM_017777.4(MKS1):c.653A>G (p.Tyr218Cys)
|
|
|
|
NM_017777.4(MKS1):c.657G>A (p.Lys219=)
|
|
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
|
NM_017777.4(MKS1):c.663T>C (p.Tyr221=)
|
rs1597993685
|
|
|
NM_017777.4(MKS1):c.663T>G (p.Tyr221Ter)
|
|
|
|
NM_017777.4(MKS1):c.668A>G (p.His223Arg)
|
|
|
|
NM_017777.4(MKS1):c.675G>A (p.Leu225=)
|
rs1969025949
|
|
|
NM_017777.4(MKS1):c.676T>C (p.Cys226Arg)
|
|
|
|
NM_017777.4(MKS1):c.68A>C (p.Asn23Thr)
|
|
|
|
NM_017777.4(MKS1):c.68A>G (p.Asn23Ser)
|
|
|
|
NM_017777.4(MKS1):c.693T>C (p.Asp231=)
|
rs777474025
|
|
|
NM_017777.4(MKS1):c.695G>C (p.Ser232Thr)
|
rs1422512368
|
|
|
NM_017777.4(MKS1):c.69C>T (p.Asn23=)
|
|
|
|
NM_017777.4(MKS1):c.704T>C (p.Val235Ala)
|
rs557691735
|
|
|
NM_017777.4(MKS1):c.705G>T (p.Val235=)
|
|
|
|
NM_017777.4(MKS1):c.726C>T (p.Phe242=)
|
|
|
|
NM_017777.4(MKS1):c.729G>C (p.Thr243=)
|
rs373491923
|
|
|
NM_017777.4(MKS1):c.729G>T (p.Thr243=)
|
rs373491923
|
|
|
NM_017777.4(MKS1):c.741A>C (p.Gly247=)
|
|
|
|
NM_017777.4(MKS1):c.744C>T (p.Pro248=)
|
|
|
|
NM_017777.4(MKS1):c.749+11G>A
|
|
|
|
NM_017777.4(MKS1):c.749+14G>T
|
|
|
|
NM_017777.4(MKS1):c.749+18G>C
|
|
|
|
NM_017777.4(MKS1):c.749+20G>T
|
|
|
|
NM_017777.4(MKS1):c.749+9A>C
|
rs2143799781
|
|
|
NM_017777.4(MKS1):c.750-14T>C
|
|
|
|
NM_017777.4(MKS1):c.750-15G>C
|
|
|
|
NM_017777.4(MKS1):c.750-18G>A
|
|
|
|
NM_017777.4(MKS1):c.750-5T>C
|
|
|
|
NM_017777.4(MKS1):c.750-7C>T
|
rs2143795530
|
|
|
NM_017777.4(MKS1):c.750-8C>A
|
rs1323177668
|
|
|
NM_017777.4(MKS1):c.750-9A>C
|
rs2143795587
|
|
|
NM_017777.4(MKS1):c.756G>A (p.Glu252=)
|
|
|
|
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)
|
rs201237547
|
|
|
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp)
|
rs201237547
|
|
|
NM_017777.4(MKS1):c.771G>A (p.Lys257=)
|
rs886038632
|
|
|
NM_017777.4(MKS1):c.787T>C (p.Tyr263His)
|
rs1597991801
|
|
|
NM_017777.4(MKS1):c.789T>C (p.Tyr263=)
|
rs1968972848
|
|
|
NM_017777.4(MKS1):c.792G>T (p.Thr264=)
|
rs1272905094
|
|
|
NM_017777.4(MKS1):c.795C>T (p.Ile265=)
|
rs750597104
|
|
|
NM_017777.4(MKS1):c.796G>A (p.Asp266Asn)
|
|
|
|
NM_017777.4(MKS1):c.798C>T (p.Asp266=)
|
rs1968971741
|
|
|
NM_017777.4(MKS1):c.80+10C>T
|
|
|
|
NM_017777.4(MKS1):c.80+11C>G
|
|
|
|
NM_017777.4(MKS1):c.80+11del
|
|
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
|
NM_017777.4(MKS1):c.80+16C>T
|
|
|
|
NM_017777.4(MKS1):c.80+17A>G
|
|
|
|
NM_017777.4(MKS1):c.80+4G>A
|
|
|
|
NM_017777.4(MKS1):c.80+6C>T
|
|
|
|
NM_017777.4(MKS1):c.80+7G>T
|
|
|
|
NM_017777.4(MKS1):c.800A>G (p.Asn267Ser)
|
rs757032985
|
|
|
NM_017777.4(MKS1):c.801T>C (p.Asn267=)
|
rs753798549
|
|
|
NM_017777.4(MKS1):c.804T>C (p.Val268=)
|
rs764069453
|
|
|
NM_017777.4(MKS1):c.805dup (p.Ser269fs)
|
rs1320893771
|
|
|
NM_017777.4(MKS1):c.81-11T>C
|
|
|
|
NM_017777.4(MKS1):c.81-13C>T
|
|
|
|
NM_017777.4(MKS1):c.81-14G>A
|
|
|
|
NM_017777.4(MKS1):c.81-14del
|
|
|
|
NM_017777.4(MKS1):c.81-2A>G
|
|
|
|
NM_017777.4(MKS1):c.81-2A>T
|
rs756709080
|
|
|
NM_017777.4(MKS1):c.81-5G>T
|
rs1969411105
|
|
|
NM_017777.4(MKS1):c.81-9T>C
|
|
|
|
NM_017777.4(MKS1):c.811C>A (p.His271Asn)
|
rs201771125
|
|
|
NM_017777.4(MKS1):c.811C>G (p.His271Asp)
|
rs201771125
|
|
|
NM_017777.4(MKS1):c.811del (p.His271fs)
|
rs1968969593
|
|
|
NM_017777.4(MKS1):c.811dup (p.His271fs)
|
|
|
|
NM_017777.4(MKS1):c.812dup (p.His271fs)
|
|
|
|
NM_017777.4(MKS1):c.813C>A (p.His271Gln)
|
rs201961765
|
|
|
NM_017777.4(MKS1):c.817C>G (p.Gln273Glu)
|
rs1968968283
|
|
|
NM_017777.4(MKS1):c.81_82del
|
|
|
|
NM_017777.4(MKS1):c.825G>A (p.Glu275=)
|
rs921504865
|
|
|
NM_017777.4(MKS1):c.826G>A (p.Glu276Lys)
|
rs1968967475
|
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
|
NM_017777.4(MKS1):c.831G>A (p.Glu277=)
|
rs2143793926
|
|
|
NM_017777.4(MKS1):c.840A>G (p.Glu280=)
|
rs1406421081
|
|
|
NM_017777.4(MKS1):c.843G>T (p.Arg281=)
|
|
|
|
NM_017777.4(MKS1):c.847G>C (p.Val283Leu)
|
rs976973396
|
|
|
NM_017777.4(MKS1):c.84C>T (p.Val28=)
|
|
|
|
NM_017777.4(MKS1):c.852C>G (p.Phe284Leu)
|
|
|
|
NM_017777.4(MKS1):c.858+17T>G
|
|
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
|
NM_017777.4(MKS1):c.858+4A>C
|
rs1359924062
|
|
|
NM_017777.4(MKS1):c.858+7G>C
|
rs918270665
|
|
|
NM_017777.4(MKS1):c.858+7G>T
|
rs918270665
|
|
|
NM_017777.4(MKS1):c.858+9A>T
|
|
|
|
NM_017777.4(MKS1):c.859-19GTTTG[3]
|
|
|
|
NM_017777.4(MKS1):c.859-2A>C
|
|
|
|
NM_017777.4(MKS1):c.859-2A>T
|
|
|
|
NM_017777.4(MKS1):c.859-5C>T
|
|
|
|
NM_017777.4(MKS1):c.85C>T (p.His29Tyr)
|
rs1969410240
|
|
|
NM_017777.4(MKS1):c.870G>T (p.Arg290=)
|
rs769489826
|
|
|
NM_017777.4(MKS1):c.875A>G (p.Lys292Arg)
|
rs1170460125
|
|
|
NM_017777.4(MKS1):c.876G>A (p.Lys292=)
|
|
|
|
NM_017777.4(MKS1):c.882T>C (p.Tyr294=)
|
|
|
|
NM_017777.4(MKS1):c.892C>T (p.Leu298Phe)
|
|
|
|
NM_017777.4(MKS1):c.900C>T (p.Gly300=)
|
|
|
|
NM_017777.4(MKS1):c.915+19T>C
|
|
|
|
NM_017777.4(MKS1):c.915+19_915+21del
|
rs3217067
|
|
|
NM_017777.4(MKS1):c.915+20G>A
|
|
|
|
NM_017777.4(MKS1):c.915+8G>T
|
|
|
|
NM_017777.4(MKS1):c.916-16C>T
|
|
|
|
NM_017777.4(MKS1):c.916-20C>T
|
|
|
|
NM_017777.4(MKS1):c.916-6C>T
|
rs765028851
|
|
|
NM_017777.4(MKS1):c.916-7A>C
|
rs2143778235
|
|
|
NM_017777.4(MKS1):c.917C>T (p.Thr306Ile)
|
rs1567799806
|
|
|
NM_017777.4(MKS1):c.918T>A (p.Thr306=)
|
|
|
|
NM_017777.4(MKS1):c.918T>G (p.Thr306=)
|
|
|
|
NM_017777.4(MKS1):c.918del (p.Val307fs)
|
rs2143778074
|
|
|
NM_017777.4(MKS1):c.921C>G (p.Val307=)
|
|
|
|
NM_017777.4(MKS1):c.925_926insTCTAA (p.Gly309delinsValTer)
|
rs2143777988
|
|
|
NM_017777.4(MKS1):c.92A>G (p.Gln31Arg)
|
|
|
|
NM_017777.4(MKS1):c.931C>T (p.Leu311Phe)
|
rs2143777929
|
|
|
NM_017777.4(MKS1):c.932T>A (p.Leu311His)
|
|
|
|
NM_017777.4(MKS1):c.934C>T (p.Arg312Trp)
|
|
|
|
NM_017777.4(MKS1):c.935G>A (p.Arg312Gln)
|
|
|
|
NM_017777.4(MKS1):c.935G>C (p.Arg312Pro)
|
rs369483945
|
|
|
NM_017777.4(MKS1):c.948T>C (p.Asn316=)
|
|
|
|
NM_017777.4(MKS1):c.94del (p.Arg32fs)
|
rs1969409341
|
|
|
NM_017777.4(MKS1):c.955G>A (p.Val319Ile)
|
rs1393510784
|
|
|
NM_017777.4(MKS1):c.958+13C>G
|
|
|
|
NM_017777.4(MKS1):c.958+14T>C
|
|
|
|
NM_017777.4(MKS1):c.958+18A>G
|
|
|
|
NM_017777.4(MKS1):c.958+7G>T
|
|
|
|
NM_017777.4(MKS1):c.958+8T>A
|
|
|
|
NM_017777.4(MKS1):c.959-10TC[2]
|
|
|
|
NM_017777.4(MKS1):c.959-16del
|
|
|
|
NM_017777.4(MKS1):c.959-1G>A
|
|
|
|
NM_017777.4(MKS1):c.959-20C>T
|
|
|
|
NM_017777.4(MKS1):c.959-2A>G
|
rs1273591389
|
|
|
NM_017777.4(MKS1):c.959-5C>A
|
rs765242131
|
|
|
NM_017777.4(MKS1):c.959-7C>G
|
|
|
|
NM_017777.4(MKS1):c.959-8T>C
|
rs763444295
|
|
|
NM_017777.4(MKS1):c.959-9C>A
|
rs538316917
|
|
|
NM_017777.4(MKS1):c.959-9C>G
|
rs538316917
|
|
|
NM_017777.4(MKS1):c.977A>G (p.Glu326Gly)
|
|
|
|
NM_017777.4(MKS1):c.981T>C (p.Tyr327=)
|
|
|
|
NM_017777.4(MKS1):c.998A>G (p.His333Arg)
|
rs2143774851
|
|
|
NM_024809.5(TCTN2):c.1008G>A (p.Ala336=)
|
|
|
|
NM_024809.5(TCTN2):c.100A>C (p.Ile34Leu)
|
|
|
|
NM_024809.5(TCTN2):c.1033+13T>A
|
rs368148687
|
|
|
NM_024809.5(TCTN2):c.1033+18G>C
|
|
|
|
NM_024809.5(TCTN2):c.1033+1G>A
|
|
|
|
NM_024809.5(TCTN2):c.1034-12T>C
|
|
|
|
NM_024809.5(TCTN2):c.1043C>T (p.Thr348Ile)
|
|
|
|
NM_024809.5(TCTN2):c.1045C>G (p.Pro349Ala)
|
rs2135843071
|
|
|
NM_024809.5(TCTN2):c.1060G>C (p.Glu354Gln)
|
rs953263200
|
|
|
NM_024809.5(TCTN2):c.1072G>A (p.Asp358Asn)
|
|
|
|
NM_024809.5(TCTN2):c.1074C>G (p.Asp358Glu)
|
|
|
|
NM_024809.5(TCTN2):c.1083A>G (p.Lys361=)
|
|
|
|
NM_024809.5(TCTN2):c.1088T>C (p.Ile363Thr)
|
|
|
|
NM_024809.5(TCTN2):c.1099+19T>A
|
|
|
|
NM_024809.5(TCTN2):c.1099+19_1099+20inv
|
|
|
|
NM_024809.5(TCTN2):c.1099+6del
|
rs2135843158
|
|
|
NM_024809.5(TCTN2):c.1099+8del
|
|
|
|
NM_024809.5(TCTN2):c.1100-18A>G
|
|
|
|
NM_024809.5(TCTN2):c.1107T>A (p.Pro369=)
|
|
|
|
NM_024809.5(TCTN2):c.1116C>T (p.Asn372=)
|
|
|
|
NM_024809.5(TCTN2):c.1123A>G (p.Thr375Ala)
|
rs1256664879
|
|
|
NM_024809.5(TCTN2):c.112G>T (p.Gly38Cys)
|
rs1955751143
|
|
|
NM_024809.5(TCTN2):c.1135G>T (p.Val379Leu)
|
|
|
|
NM_024809.5(TCTN2):c.1154A>G (p.Tyr385Cys)
|
|
|
|
NM_024809.5(TCTN2):c.1165T>C (p.Trp389Arg)
|
rs200080239
|
|
|
NM_024809.5(TCTN2):c.1165T>G (p.Trp389Gly)
|
|
|
|
NM_024809.5(TCTN2):c.1173_1178del (p.Asn392_Thr393del)
|
|
|
|
NM_024809.5(TCTN2):c.1179C>A (p.Thr393=)
|
|
|
|
NM_024809.5(TCTN2):c.1190T>A (p.Ile397Lys)
|
|
|
|
NM_024809.5(TCTN2):c.1208G>A (p.Arg403Lys)
|
|
|
|
NM_024809.5(TCTN2):c.1209G>A (p.Arg403=)
|
|
|
|
NM_024809.5(TCTN2):c.1234+7_1234+8del
|
|
|
|
NM_024809.5(TCTN2):c.1235-5T>C
|
|
|
|
NM_024809.5(TCTN2):c.1245A>G (p.Thr415=)
|
|
|
|
NM_024809.5(TCTN2):c.1248G>A (p.Gln416=)
|
rs766355400
|
|
|
NM_024809.5(TCTN2):c.1250_1251del (p.Arg417fs)
|
rs2135847212
|
|
|
NM_024809.5(TCTN2):c.1264T>A (p.Phe422Ile)
|
|
|
|
NM_024809.5(TCTN2):c.1286A>T (p.Asn429Ile)
|
|
|
|
NM_024809.5(TCTN2):c.1288GAA[2] (p.Glu432del)
|
|
|
|
NM_024809.5(TCTN2):c.1293A>G (p.Glu431=)
|
|
|
|
NM_024809.5(TCTN2):c.1303G>A (p.Gly435Arg)
|
|
|
|
NM_024809.5(TCTN2):c.1312+14_1312+15del
|
|
|
|
NM_024809.5(TCTN2):c.1312+17C>T
|
|
|
|
NM_024809.5(TCTN2):c.1312+1G>C
|
|
|
|
NM_024809.5(TCTN2):c.1312+3A>G
|
rs1381902683
|
|
|
NM_024809.5(TCTN2):c.1313-14T>C
|
|
|
|
NM_024809.5(TCTN2):c.1317C>G (p.Tyr439Ter)
|
|
|
|
NM_024809.5(TCTN2):c.1329del (p.Lys443fs)
|
|
|
|
NM_024809.5(TCTN2):c.1366G>A (p.Val456Ile)
|
|
|
|
NM_024809.5(TCTN2):c.1371G>A (p.Thr457=)
|
|
|
|
NM_024809.5(TCTN2):c.1377A>C (p.Leu459Phe)
|
|
|
|
NM_024809.5(TCTN2):c.1379A>C (p.His460Pro)
|
|
|
|
NM_024809.5(TCTN2):c.1389A>G (p.Gln463=)
|
|
|
|
NM_024809.5(TCTN2):c.1391C>T (p.Ser464Leu)
|
rs991572501
|
|
|
NM_024809.5(TCTN2):c.1393+8G>A
|
|
|
|
NM_024809.5(TCTN2):c.1394-10_1394-5del
|
rs754718630
|
|
|
NM_024809.5(TCTN2):c.1394-5T>C
|
|
|
|
NM_024809.5(TCTN2):c.1403G>T (p.Gly468Val)
|
rs1345786491
|
|
|
NM_024809.5(TCTN2):c.1411A>C (p.Thr471Pro)
|
rs2135849648
|
|
|
NM_024809.5(TCTN2):c.1432A>G (p.Ile478Val)
|
|
|
|
NM_024809.5(TCTN2):c.1436T>G (p.Leu479Ter)
|
|
|
|
NM_024809.5(TCTN2):c.1447A>C (p.Asn483His)
|
|
|
|
NM_024809.5(TCTN2):c.1449T>C (p.Asn483=)
|
|
|
|
NM_024809.5(TCTN2):c.147C>A (p.Thr49=)
|
|
|
|
NM_024809.5(TCTN2):c.147C>T (p.Thr49=)
|
|
|
|
NM_024809.5(TCTN2):c.148G>A (p.Glu50Lys)
|
rs959524376
|
|
|
NM_024809.5(TCTN2):c.1498del (p.Gln500fs)
|
|
|
|
NM_024809.5(TCTN2):c.1499A>G (p.Gln500Arg)
|
rs866607617
|
|
|
NM_024809.5(TCTN2):c.1505+13T>C
|
rs2135849825
|
|
|
NM_024809.5(TCTN2):c.1505+15G>A
|
|
|
|
NM_024809.5(TCTN2):c.1505+3G>A
|
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|
|
NM_024809.5(TCTN2):c.1506-17G>A
|
|
|
|
NM_024809.5(TCTN2):c.1506-20A>C
|
rs1011092991
|
|
|
NM_024809.5(TCTN2):c.1509G>T (p.Glu503Asp)
|
|
|
|
NM_024809.5(TCTN2):c.1528G>C (p.Asp510His)
|
|
|
|
NM_024809.5(TCTN2):c.1538T>C (p.Ile513Thr)
|
|
|
|
NM_024809.5(TCTN2):c.1545G>A (p.Ala515=)
|
|
|
|
NM_024809.5(TCTN2):c.1551C>T (p.His517=)
|
|
|
|
NM_024809.5(TCTN2):c.1569C>T (p.Asn523=)
|
rs2135852947
|
|
|
NM_024809.5(TCTN2):c.1576T>G (p.Tyr526Asp)
|
rs2135852961
|
|
|
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr)
|
rs760206821
|
|
|
NM_024809.5(TCTN2):c.1579G>T (p.Ala527Ser)
|
rs760206821
|
|
|
NM_024809.5(TCTN2):c.1602C>G (p.Leu534=)
|
rs752527801
|
|
|
NM_024809.5(TCTN2):c.1612+12C>A
|
|
|
|
NM_024809.5(TCTN2):c.1612+14G>A
|
|
|
|
NM_024809.5(TCTN2):c.1612+15G>C
|
|
|
|
NM_024809.5(TCTN2):c.1612+16G>A
|
|
|
|
NM_024809.5(TCTN2):c.1612+9A>C
|
|
|
|
NM_024809.5(TCTN2):c.1641C>T (p.Asp547=)
|
rs555666775
|
|
|
NM_024809.5(TCTN2):c.1645C>T (p.Leu549=)
|
|
|
|
NM_024809.5(TCTN2):c.1655G>A (p.Ser552Asn)
|
|
|
|
NM_024809.5(TCTN2):c.1671C>T (p.Cys557=)
|
|
|
|
NM_024809.5(TCTN2):c.1685C>T (p.Ala562Val)
|
rs2135859426
|
|
|
NM_024809.5(TCTN2):c.1687C>T (p.His563Tyr)
|
|
|
|
NM_024809.5(TCTN2):c.1692G>A (p.Leu564=)
|
rs751298784
|
|
|
NM_024809.5(TCTN2):c.1704C>G (p.Ile568Met)
|
|
|
|
NM_024809.5(TCTN2):c.1705C>G (p.Leu569Val)
|
|
|
|
NM_024809.5(TCTN2):c.170C>T (p.Ala57Val)
|
|
|
|
NM_024809.5(TCTN2):c.1713G>A (p.Ser571=)
|
|
|
|
NM_024809.5(TCTN2):c.1722C>T (p.Gly574=)
|
rs557018110
|
|
|
NM_024809.5(TCTN2):c.1725G>A (p.Ala575=)
|
|
|
|
NM_024809.5(TCTN2):c.1725G>C (p.Ala575=)
|
rs145483549
|
|
|
NM_024809.5(TCTN2):c.1726G>C (p.Val576Leu)
|
|
|
|
NM_024809.5(TCTN2):c.1728G>A (p.Val576=)
|
|
|
|
NM_024809.5(TCTN2):c.1743_1744delinsTT (p.Gln581_Gln582delinsHisTer)
|
|
|
|
NM_024809.5(TCTN2):c.1751T>C (p.Ile584Thr)
|
|
|
|
NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)
|
|
|
|
NM_024809.5(TCTN2):c.1769+10C>T
|
|
|
|
NM_024809.5(TCTN2):c.1769+8C>T
|
|
|
|
NM_024809.5(TCTN2):c.1769+9A>G
|
rs528667731
|
|
|
NM_024809.5(TCTN2):c.1770-13del
|
rs1566265391
|
|
|
NM_024809.5(TCTN2):c.1770-18G>A
|
|
|
|
NM_024809.5(TCTN2):c.1770-2A>G
|
rs1566265412
|
|
|
NM_024809.5(TCTN2):c.1781T>C (p.Val594Ala)
|
|
|
|
NM_024809.5(TCTN2):c.1791G>T (p.Gln597His)
|
|
|
|
NM_024809.5(TCTN2):c.1797G>A (p.Gln599=)
|
|
|
|
NM_024809.5(TCTN2):c.1809C>T (p.Thr603=)
|
|
|
|
NM_024809.5(TCTN2):c.1810T>C (p.Cys604Arg)
|
|
|
|
NM_024809.5(TCTN2):c.1812T>G (p.Cys604Trp)
|
rs1593871306
|
|
|
NM_024809.5(TCTN2):c.1815G>A (p.Glu605=)
|
|
|
|
NM_024809.5(TCTN2):c.1847C>A (p.Ser616Tyr)
|
rs1436566157
|
|
|
NM_024809.5(TCTN2):c.184G>T (p.Glu62Ter)
|
|
|
|
NM_024809.5(TCTN2):c.1851C>T (p.Val617=)
|
rs1956235464
|
|
|
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter)
|
rs863225426
|
|
|
NM_024809.5(TCTN2):c.1873_1874del (p.Gln625fs)
|
rs1025526121
|
|
|
NM_024809.5(TCTN2):c.1881C>G (p.Pro627=)
|
|
|
|
NM_024809.5(TCTN2):c.1881C>T (p.Pro627=)
|
rs139902134
|
|
|
NM_024809.5(TCTN2):c.1882C>T (p.His628Tyr)
|
rs2135862503
|
|
|
NM_024809.5(TCTN2):c.1887C>G (p.Pro629=)
|
rs1276465193
|
|
|
NM_024809.5(TCTN2):c.188C>G (p.Ala63Gly)
|
|
|
|
NM_024809.5(TCTN2):c.1892C>T (p.Thr631Ile)
|
|
|
|
NM_024809.5(TCTN2):c.1896-11A>C
|
rs2135862710
|
|
|
NM_024809.5(TCTN2):c.1896-14A>G
|
|
|
|
NM_024809.5(TCTN2):c.1896-16_1896-15insACTTGTAGTTTTTG
|
|
|
|
NM_024809.5(TCTN2):c.1896-18C>A
|
|
|
|
NM_024809.5(TCTN2):c.18G>A (p.Pro6=)
|
|
|
|
NM_024809.5(TCTN2):c.190+14C>T
|
|
|
|
NM_024809.5(TCTN2):c.1904T>G (p.Ile635Ser)
|
rs2135862767
|
|
|
NM_024809.5(TCTN2):c.191-10_191-8del
|
rs1955759155
|
|
|
NM_024809.5(TCTN2):c.191-12T>G
|
|
|
|
NM_024809.5(TCTN2):c.191-19G>A
|
|
|
|
NM_024809.5(TCTN2):c.191-19G>T
|
|
|
|
NM_024809.5(TCTN2):c.191-20T>C
|
rs2135814239
|
|
|
NM_024809.5(TCTN2):c.1910A>T (p.Tyr637Phe)
|
|
|
|
NM_024809.5(TCTN2):c.1926C>T (p.Cys642=)
|
|
|
|
NM_024809.5(TCTN2):c.1928A>G (p.Asn643Ser)
|
|
|
|
NM_024809.5(TCTN2):c.192A>C (p.Gly64=)
|
|
|
|
NM_024809.5(TCTN2):c.1943_1944del (p.Cys648fs)
|
rs2135862848
|
|
|
NM_024809.5(TCTN2):c.1948C>T (p.Pro650Ser)
|
|
|
|
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu)
|
rs1393954437
|
|
|
NM_024809.5(TCTN2):c.1950G>A (p.Pro650=)
|
|
|
|
NM_024809.5(TCTN2):c.1958T>C (p.Leu653Pro)
|
|
|
|
NM_024809.5(TCTN2):c.1958_1963del (p.Leu653_Tyr654del)
|
rs377628976
|
|
|
NM_024809.5(TCTN2):c.1959A>G (p.Leu653=)
|
|
|
|
NM_024809.5(TCTN2):c.1987G>C (p.Glu663Gln)
|
rs756940400
|
|
|
NM_024809.5(TCTN2):c.2001G>C (p.Gln667His)
|
|
|
|
NM_024809.5(TCTN2):c.2005G>A (p.Val669Ile)
|
rs768699111
|
|
|
NM_024809.5(TCTN2):c.200C>G (p.Pro67Arg)
|
|
|
|
NM_024809.5(TCTN2):c.200C>T (p.Pro67Leu)
|
rs772417842
|
|
|
NM_024809.5(TCTN2):c.2020C>T (p.Leu674=)
|
|
|
|
NM_024809.5(TCTN2):c.2029T>C (p.Leu677=)
|
rs1271806468
|
|
|
NM_024809.5(TCTN2):c.2029T>G (p.Leu677Val)
|
|
|
|
NM_024809.5(TCTN2):c.2034C>T (p.Phe678=)
|
|
|
|
NM_024809.5(TCTN2):c.2047T>G (p.Leu683Val)
|
|
|
|
NM_024809.5(TCTN2):c.2049G>T (p.Leu683Phe)
|
rs975324103
|
|
|
NM_024809.5(TCTN2):c.206C>T (p.Pro69Leu)
|
|
|
|
NM_024809.5(TCTN2):c.2085C>G (p.Ala695=)
|
rs950593517
|
|
|
NM_024809.5(TCTN2):c.210G>A (p.Thr70=)
|
|
|
|
NM_024809.5(TCTN2):c.217G>C (p.Val73Leu)
|
rs1955760079
|
|
|
NM_024809.5(TCTN2):c.225_226delinsTC (p.Asn76His)
|
|
|
|
NM_024809.5(TCTN2):c.22G>A (p.Ala8Thr)
|
|
|
|
NM_024809.5(TCTN2):c.233C>G (p.Thr78Arg)
|
rs1015790415
|
|
|
NM_024809.5(TCTN2):c.234G>A (p.Thr78=)
|
|
|
|
NM_024809.5(TCTN2):c.235G>A (p.Glu79Lys)
|
|
|
|
NM_024809.5(TCTN2):c.239A>C (p.Asp80Ala)
|
|
|
|
NM_024809.5(TCTN2):c.246C>T (p.Ser82=)
|
rs552719113
|
|
|
NM_024809.5(TCTN2):c.258C>A (p.Ile86=)
|
|
|
|
NM_024809.5(TCTN2):c.25C>T (p.Leu9Phe)
|
|
|
|
NM_024809.5(TCTN2):c.267+13G>A
|
|
|
|
NM_024809.5(TCTN2):c.267+17A>T
|
rs1593828714
|
|
|
NM_024809.5(TCTN2):c.267+20_267+21delinsAC
|
|
|
|
NM_024809.5(TCTN2):c.267+21_267+23del
|
rs768504261
|
|
|
NM_024809.5(TCTN2):c.267G>T (p.Ala89=)
|
|
|
|
NM_024809.5(TCTN2):c.268-15A>G
|
|
|
|
NM_024809.5(TCTN2):c.268-15A>T
|
|
|
|
NM_024809.5(TCTN2):c.268-2A>G
|
|
|
|
NM_024809.5(TCTN2):c.269A>G (p.Lys90Arg)
|
rs879080073
|
|
|
NM_024809.5(TCTN2):c.273G>T (p.Val91=)
|
|
|
|
NM_024809.5(TCTN2):c.275_276insCAC (p.Leu92delinsPheThr)
|
|
|
|
NM_024809.5(TCTN2):c.27T>A (p.Leu9=)
|
|
|
|
NM_024809.5(TCTN2):c.27T>G (p.Leu9=)
|
rs942739172
|
|
|
NM_024809.5(TCTN2):c.282G>C (p.Val94=)
|
rs146257198
|
|
|
NM_024809.5(TCTN2):c.317C>G (p.Ser106Cys)
|
|
|
|
NM_024809.5(TCTN2):c.333T>C (p.Asp111=)
|
rs534113568
|
|
|
NM_024809.5(TCTN2):c.347C>A (p.Ser116Tyr)
|
|
|
|
NM_024809.5(TCTN2):c.350C>T (p.Pro117Leu)
|
|
|
|
NM_024809.5(TCTN2):c.352T>G (p.Cys118Gly)
|
rs2135816491
|
|
|
NM_024809.5(TCTN2):c.357C>T (p.Ile119=)
|
rs1335976509
|
|
|
NM_024809.5(TCTN2):c.374T>G (p.Val125Gly)
|
|
|
|
NM_024809.5(TCTN2):c.458C>T (p.Ala153Val)
|
|
|
|
NM_024809.5(TCTN2):c.463+17_463+20del
|
|
|
|
NM_024809.5(TCTN2):c.464-13G>A
|
|
|
|
NM_024809.5(TCTN2):c.464-8C>G
|
|
|
|
NM_024809.5(TCTN2):c.481C>T (p.Pro161Ser)
|
|
|
|
NM_024809.5(TCTN2):c.485A>G (p.Asn162Ser)
|
|
|
|
NM_024809.5(TCTN2):c.487C>T (p.Gln163Ter)
|
|
|
|
NM_024809.5(TCTN2):c.512G>A (p.Cys171Tyr)
|
rs1247122928
|
|
|
NM_024809.5(TCTN2):c.521A>G (p.Asn174Ser)
|
|
|
|
NM_024809.5(TCTN2):c.524dup (p.Leu175fs)
|
rs760034947
|
|
|
NM_024809.5(TCTN2):c.526A>G (p.Thr176Ala)
|
|
|
|
NM_024809.5(TCTN2):c.528A>T (p.Thr176=)
|
|
|
|
NM_024809.5(TCTN2):c.529G>A (p.Ala177Thr)
|
|
|
|
NM_024809.5(TCTN2):c.543T>C (p.Asp181=)
|
|
|
|
NM_024809.5(TCTN2):c.545T>C (p.Val182Ala)
|
|
|
|
NM_024809.5(TCTN2):c.547C>T (p.Arg183Cys)
|
rs774520912
|
|
|
NM_024809.5(TCTN2):c.564+11del
|
rs767884874
|
|
|
NM_024809.5(TCTN2):c.564+13G>A
|
|
|
|
NM_024809.5(TCTN2):c.565-1G>A
|
|
|
|
NM_024809.5(TCTN2):c.565-5T>G
|
|
|
|
NM_024809.5(TCTN2):c.573del (p.Ser192fs)
|
rs2135834102
|
|
|
NM_024809.5(TCTN2):c.577A>G (p.Asn193Asp)
|
|
|
|
NM_024809.5(TCTN2):c.580T>G (p.Leu194Val)
|
|
|
|
NM_024809.5(TCTN2):c.585A>G (p.Thr195=)
|
rs2135834132
|
|
|
NM_024809.5(TCTN2):c.587C>T (p.Thr196Met)
|
|
|
|
NM_024809.5(TCTN2):c.590T>C (p.Leu197Pro)
|
|
|
|
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)
|
|
|
|
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)
|
rs201827132
|
|
|
NM_024809.5(TCTN2):c.615C>A (p.Gly205=)
|
rs147485641
|
|
|
NM_024809.5(TCTN2):c.649C>G (p.Gln217Glu)
|
|
|
|
NM_024809.5(TCTN2):c.660T>C (p.Ser220=)
|
rs2135834313
|
|
|
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met)
|
rs376996387
|
|
|
NM_024809.5(TCTN2):c.672G>A (p.Thr224=)
|
|
|
|
NM_024809.5(TCTN2):c.673A>T (p.Thr225Ser)
|
|
|
|
NM_024809.5(TCTN2):c.684C>T (p.Val228=)
|
|
|
|
NM_024809.5(TCTN2):c.687C>T (p.Pro229=)
|
|
|
|
NM_024809.5(TCTN2):c.690T>C (p.Asp230=)
|
|
|
|
NM_024809.5(TCTN2):c.697C>T (p.Pro233Ser)
|
rs1156772105
|
|
|
NM_024809.5(TCTN2):c.6C>A (p.Gly2=)
|
|
|
|
NM_024809.5(TCTN2):c.716C>A (p.Ser239Tyr)
|
|
|
|
NM_024809.5(TCTN2):c.716C>G (p.Ser239Cys)
|
rs149186771
|
|
|
NM_024809.5(TCTN2):c.716C>T (p.Ser239Phe)
|
|
|
|
NM_024809.5(TCTN2):c.72G>A (p.Trp24Ter)
|
rs1955746650
|
|
|
NM_024809.5(TCTN2):c.738C>G (p.Phe246Leu)
|
|
|
|
NM_024809.5(TCTN2):c.756T>C (p.His252=)
|
rs1593847530
|
|
|
NM_024809.5(TCTN2):c.758G>T (p.Gly253Val)
|
rs1955979058
|
|
|
NM_024809.5(TCTN2):c.761C>T (p.Ala254Val)
|
|
|
|
NM_024809.5(TCTN2):c.764+13_764+14delinsTT
|
rs2135834618
|
|
|
NM_024809.5(TCTN2):c.764+17C>T
|
|
|
|
NM_024809.5(TCTN2):c.764+18C>T
|
|
|
|
NM_024809.5(TCTN2):c.764+19G>T
|
rs371865300
|
|
|
NM_024809.5(TCTN2):c.764+20C>T
|
|
|
|
NM_024809.5(TCTN2):c.764+9C>G
|
rs1955979503
|
|
|
NM_024809.5(TCTN2):c.765-11T>C
|
|
|
|
NM_024809.5(TCTN2):c.765-1G>A
|
|
|
|
NM_024809.5(TCTN2):c.765-1G>C
|
|
|
|
NM_024809.5(TCTN2):c.765-20C>G
|
|
|
|
NM_024809.5(TCTN2):c.765-9G>A
|
|
|
|
NM_024809.5(TCTN2):c.771C>A (p.Pro257=)
|
rs2135836168
|
|
|
NM_024809.5(TCTN2):c.795A>G (p.Val265=)
|
|
|
|
NM_024809.5(TCTN2):c.797A>T (p.Tyr266Phe)
|
|
|
|
NM_024809.5(TCTN2):c.7T>C (p.Phe3Leu)
|
|
|
|
NM_024809.5(TCTN2):c.800_801del (p.Val267fs)
|
|
|
|
NM_024809.5(TCTN2):c.802G>T (p.Asp268Tyr)
|
|
|
|
NM_024809.5(TCTN2):c.806C>G (p.Thr269Ser)
|
|
|
|
NM_024809.5(TCTN2):c.811G>A (p.Ala271Thr)
|
|
|
|
NM_024809.5(TCTN2):c.82+15G>T
|
|
|
|
NM_024809.5(TCTN2):c.82+17A>C
|
rs2135813322
|
|
|
NM_024809.5(TCTN2):c.82+1G>T
|
|
|
|
NM_024809.5(TCTN2):c.822T>C (p.Phe274=)
|
|
|
|
NM_024809.5(TCTN2):c.83-12C>T
|
rs2135813538
|
|
|
NM_024809.5(TCTN2):c.83-18C>T
|
|
|
|
NM_024809.5(TCTN2):c.83-2A>G
|
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|
|
NM_024809.5(TCTN2):c.830T>C (p.Phe277Ser)
|
rs1566252816
|
|
|
NM_024809.5(TCTN2):c.848A>T (p.Asp283Val)
|
rs2135836324
|
|
|
NM_024809.5(TCTN2):c.852C>T (p.Pro284=)
|
rs2135836333
|
|
|
NM_024809.5(TCTN2):c.858G>T (p.Met286Ile)
|
rs371804063
|
|
|
NM_024809.5(TCTN2):c.861T>C (p.Thr287=)
|
|
|
|
NM_024809.5(TCTN2):c.877T>A (p.Phe293Ile)
|
rs201322440
|
|
|
NM_024809.5(TCTN2):c.891+12A>G
|
|
|
|
NM_024809.5(TCTN2):c.891+18A>G
|
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|
|
NM_024809.5(TCTN2):c.891+1G>A
|
|
|
|
NM_024809.5(TCTN2):c.891+5T>G
|
rs2135836443
|
|
|
NM_024809.5(TCTN2):c.891+6C>T
|
|
|
|
NM_024809.5(TCTN2):c.891+7_891+8inv
|
|
|
|
NM_024809.5(TCTN2):c.892-18T>C
|
rs1319716996
|
|
|
NM_024809.5(TCTN2):c.892-19C>G
|
|
|
|
NM_024809.5(TCTN2):c.892-7C>T
|
rs2135839788
|
|
|
NM_024809.5(TCTN2):c.892G>A (p.Val298Met)
|
|
|
|
NM_024809.5(TCTN2):c.898del (p.Leu300fs)
|
|
|
|
NM_024809.5(TCTN2):c.902C>T (p.Ala301Val)
|
|
|
|
NM_024809.5(TCTN2):c.921C>T (p.Asn307=)
|
|
|
|
NM_024809.5(TCTN2):c.922G>A (p.Ala308Thr)
|
|
|
|
NM_024809.5(TCTN2):c.92C>G (p.Pro31Arg)
|
rs1009530513
|
|
|
NM_024809.5(TCTN2):c.92C>T (p.Pro31Leu)
|
rs1009530513
|
|
|
NM_024809.5(TCTN2):c.94C>T (p.Pro32Ser)
|
rs2135813593
|
|
|
NM_024809.5(TCTN2):c.961G>A (p.Val321Ile)
|
|
|
|
NM_024809.5(TCTN2):c.964dup (p.Thr322fs)
|
rs746186338
|
|
|
NM_024809.5(TCTN2):c.965C>T (p.Thr322Ile)
|
rs2135839958
|
|
|
NM_024809.5(TCTN2):c.97T>C (p.Phe33Leu)
|
|
|
|
NM_024809.5(TCTN2):c.993T>C (p.Asp331=)
|
rs2135840040
|
|
|
NM_025114.3(CEP290):c.4438-318_7243del
|
|
|
|
NM_025114.3(CEP290):c.6819-?_*171+?dup
|
|
|
|
NM_025114.4(CEP290):c.-8_2del (p.Met1fs)
|
rs2040644607
|
|
|
NM_025114.4(CEP290):c.1000C>T (p.Leu334=)
|
rs2138022943
|
|
|
NM_025114.4(CEP290):c.1002A>T (p.Leu334=)
|
rs757621266
|
|
|
NM_025114.4(CEP290):c.1004G>A (p.Arg335Lys)
|
|
|
|
NM_025114.4(CEP290):c.1005G>A (p.Arg335=)
|
rs1043933772
|
|
|
NM_025114.4(CEP290):c.1006dup (p.Glu336fs)
|
|
|
|
NM_025114.4(CEP290):c.1008G>A (p.Glu336=)
|
|
|
|
NM_025114.4(CEP290):c.100A>C (p.Lys34Gln)
|
|
|
|
NM_025114.4(CEP290):c.102+17T>C
|
|
|
|
NM_025114.4(CEP290):c.102+2T>A
|
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
|
NM_025114.4(CEP290):c.102+7A>T
|
|
|
|
NM_025114.4(CEP290):c.102+8A>T
|
rs2138303509
|
|
|
NM_025114.4(CEP290):c.1020T>C (p.Asn340=)
|
|
|
|
NM_025114.4(CEP290):c.1025A>G (p.Gln342Arg)
|
rs2138022289
|
|
|
NM_025114.4(CEP290):c.1026G>A (p.Gln342=)
|
|
|
|
NM_025114.4(CEP290):c.103-20T>C
|
|
|
|
NM_025114.4(CEP290):c.103-4T>G
|
|
|
|
NM_025114.4(CEP290):c.103-5C>T
|
rs2138299257
|
|
|
NM_025114.4(CEP290):c.1035T>A (p.Ala345=)
|
|
|
|
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
|
|
|
|
NM_025114.4(CEP290):c.1044T>C (p.Ser348=)
|
|
|
|
NM_025114.4(CEP290):c.1052T>C (p.Met351Thr)
|
rs1415965131
|
|
|
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser)
|
|
|
|
NM_025114.4(CEP290):c.1059A>G (p.Leu353=)
|
rs2138021415
|
|
|
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)
|
rs2138021345
|
|
|
NM_025114.4(CEP290):c.1065+11A>G
|
|
|
|
NM_025114.4(CEP290):c.1065+12_1065+14del
|
|
|
|
NM_025114.4(CEP290):c.1065+15_1065+16del
|
|
|
|
NM_025114.4(CEP290):c.1065+1G>A
|
|
|
|
NM_025114.4(CEP290):c.1065+1G>C
|
rs2138021203
|
|
|
NM_025114.4(CEP290):c.1065+9T>G
|
|
|
|
NM_025114.4(CEP290):c.1066-10T>C
|
|
|
|
NM_025114.4(CEP290):c.1066-20T>A
|
rs1472056992
|
|
|
NM_025114.4(CEP290):c.1066-5T>C
|
|
|
|
NM_025114.4(CEP290):c.1066-8T>A
|
|
|
|
NM_025114.4(CEP290):c.1067G>A (p.Gly356Asp)
|
rs1403887401
|
|
|
NM_025114.4(CEP290):c.1068T>A (p.Gly356=)
|
|
|
|
NM_025114.4(CEP290):c.1069A>C (p.Ile357Leu)
|
rs2138003595
|
|
|
NM_025114.4(CEP290):c.1069A>G (p.Ile357Val)
|
|
|
|
NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)
|
|
|
|
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter)
|
rs1592656929
|
|
|
NM_025114.4(CEP290):c.1078C>A (p.Arg360=)
|
rs776645403
|
|
|
NM_025114.4(CEP290):c.1082A>G (p.Asp361Gly)
|
|
|
|
NM_025114.4(CEP290):c.1083C>A (p.Asp361Glu)
|
|
|
|
NM_025114.4(CEP290):c.1092T>C (p.Ile364=)
|
|
|
|
NM_025114.4(CEP290):c.1095G>A (p.Lys365=)
|
rs2138002953
|
|
|
NM_025114.4(CEP290):c.1096del (p.Met366fs)
|
|
|
|
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile)
|
|
|
|
NM_025114.4(CEP290):c.1108C>G (p.Gln370Glu)
|
rs2039663676
|
|
|
NM_025114.4(CEP290):c.1111G>A (p.Val371Ile)
|
rs2138002338
|
|
|
NM_025114.4(CEP290):c.1117C>A (p.Gln373Lys)
|
|
|
|
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=)
|
rs758472041
|
|
|
NM_025114.4(CEP290):c.1128A>G (p.Lys376=)
|
rs2138001930
|
|
|
NM_025114.4(CEP290):c.1131A>G (p.Glu377=)
|
rs1248968401
|
|
|
NM_025114.4(CEP290):c.1140G>A (p.Lys380=)
|
|
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
|
NM_025114.4(CEP290):c.1158A>G (p.Glu386=)
|
|
|
|
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)
|
|
|
|
NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter)
|
rs2138000998
|
|
|
NM_025114.4(CEP290):c.1166A>T (p.Lys389Ile)
|
rs2138000943
|
|
|
NM_025114.4(CEP290):c.1172A>G (p.Glu391Gly)
|
|
|
|
NM_025114.4(CEP290):c.1179A>G (p.Gln393=)
|
rs2138000643
|
|
|
NM_025114.4(CEP290):c.1182A>G (p.Arg394=)
|
rs2138000548
|
|
|
NM_025114.4(CEP290):c.1189+10T>G
|
|
|
|
NM_025114.4(CEP290):c.1189+13A>G
|
rs2039658519
|
|
|
NM_025114.4(CEP290):c.1189+15A>G
|
|
|
|
NM_025114.4(CEP290):c.1189+16T>C
|
|
|
|
NM_025114.4(CEP290):c.1189+19A>G
|
|
|
|
NM_025114.4(CEP290):c.1189+19_1189+21del
|
|
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
|
NM_025114.4(CEP290):c.1189+20G>A
|
|
|
|
NM_025114.4(CEP290):c.1189+20_1189+23del
|
rs1460774098
|
|
|
NM_025114.4(CEP290):c.1189+2T>C
|
|
|
|
NM_025114.4(CEP290):c.1189+9A>G
|
|
|
|
NM_025114.4(CEP290):c.1190-10T>C
|
rs750104849
|
|
|
NM_025114.4(CEP290):c.1190-15G>T
|
|
|
|
NM_025114.4(CEP290):c.1190-4G>C
|
rs2039375104
|
|
|
NM_025114.4(CEP290):c.1190-6C>G
|
|
|
|
NM_025114.4(CEP290):c.1190-6C>T
|
|
|
|
NM_025114.4(CEP290):c.1190-8C>G
|
rs764602507
|
|
|
NM_025114.4(CEP290):c.1190-8_1190-7delinsTC
|
rs2137921603
|
|
|
NM_025114.4(CEP290):c.1195T>G (p.Ser399Ala)
|
|
|
|
NM_025114.4(CEP290):c.1197A>C (p.Ser399=)
|
|
|
|
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)
|
rs773578133
|
|
|
NM_025114.4(CEP290):c.1205C>G (p.Ser402Cys)
|
rs2137920983
|
|
|
NM_025114.4(CEP290):c.1209A>G (p.Gln403=)
|
rs748251474
|
|
|
NM_025114.4(CEP290):c.120A>G (p.Leu40=)
|
rs2138298973
|
|
|
NM_025114.4(CEP290):c.1217_1218delinsTC (p.His406Leu)
|
rs2137920625
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
|
NM_025114.4(CEP290):c.1225del (p.Ile409fs)
|
rs1287628446
|
|
|
NM_025114.4(CEP290):c.1229A>G (p.Gln410Arg)
|
|
|
|
NM_025114.4(CEP290):c.1230G>A (p.Gln410=)
|
rs2137920073
|
|
|
NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter)
|
|
|
|
NM_025114.4(CEP290):c.1236G>T (p.Thr412=)
|
|
|
|
NM_025114.4(CEP290):c.1240G>A (p.Asp414Asn)
|
|
|
|
NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter)
|
rs1269182131
|
|
|
NM_025114.4(CEP290):c.1248A>G (p.Leu416=)
|
|
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
|
NM_025114.4(CEP290):c.1258dup (p.Thr420fs)
|
rs868650061
|
|
|
NM_025114.4(CEP290):c.1263A>G (p.Lys421=)
|
|
|
|
NM_025114.4(CEP290):c.1266G>A (p.Glu422=)
|
|
|
|
NM_025114.4(CEP290):c.1268C>A (p.Ala423Asp)
|
|
|
|
NM_025114.4(CEP290):c.1273del (p.Arg425fs)
|
|
|
|
NM_025114.4(CEP290):c.1280C>T (p.Ala427Val)
|
rs2039369004
|
|
|
NM_025114.4(CEP290):c.1281T>C (p.Ala427=)
|
rs2137918647
|
|
|
NM_025114.4(CEP290):c.1284A>G (p.Glu428=)
|
|
|
|
NM_025114.4(CEP290):c.1293G>A (p.Glu431=)
|
rs1367715172
|
|
|
NM_025114.4(CEP290):c.1296T>C (p.Ala432=)
|
|
|
|
NM_025114.4(CEP290):c.1296_1299dup (p.Ala434Ter)
|
|
|
|
NM_025114.4(CEP290):c.1297G>A (p.Asp433Asn)
|
|
|
|
NM_025114.4(CEP290):c.12T>C (p.Asn4=)
|
|
|
|
NM_025114.4(CEP290):c.1305G>A (p.Arg435=)
|
|
|
|
NM_025114.4(CEP290):c.1306G>A (p.Glu436Lys)
|
|
|
|
NM_025114.4(CEP290):c.1307A>G (p.Glu436Gly)
|
rs2039366661
|
|
|
NM_025114.4(CEP290):c.1313A>G (p.Asp438Gly)
|
rs2137917175
|
|
|
NM_025114.4(CEP290):c.1318G>T (p.Glu440Ter)
|
rs2137917114
|
|
|
NM_025114.4(CEP290):c.1320A>G (p.Glu440=)
|
|
|
|
NM_025114.4(CEP290):c.1325T>A (p.Val442Asp)
|
|
|
|
NM_025114.4(CEP290):c.1338del (p.Arg447fs)
|
rs2039364798
|
|
|
NM_025114.4(CEP290):c.133del (p.Gln45fs)
|
|
|
|
NM_025114.4(CEP290):c.1347dup (p.Asp450fs)
|
rs774490795
|
|
|
NM_025114.4(CEP290):c.1350T>C (p.Asp450=)
|
|
|
|
NM_025114.4(CEP290):c.1353T>C (p.Tyr451=)
|
rs2137916151
|
|
|
NM_025114.4(CEP290):c.1358C>T (p.Ser453Leu)
|
rs772635605
|
|
|
NM_025114.4(CEP290):c.1359+13A>G
|
|
|
|
NM_025114.4(CEP290):c.1359+15C>G
|
|
|
|
NM_025114.4(CEP290):c.1359+15C>T
|
|
|
|
NM_025114.4(CEP290):c.1359+16T>C
|
|
|
|
NM_025114.4(CEP290):c.1359+18G>T
|
|
|
|
NM_025114.4(CEP290):c.1359+19T>C
|
|
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
|
NM_025114.4(CEP290):c.1359+20C>A
|
|
|
|
NM_025114.4(CEP290):c.1359+20C>T
|
|
|
|
NM_025114.4(CEP290):c.1359+2dup
|
|
|
|
NM_025114.4(CEP290):c.135A>C (p.Gln45His)
|
rs2138298764
|
|
|
NM_025114.4(CEP290):c.135A>G (p.Gln45=)
|
|
|
|
NM_025114.4(CEP290):c.1360-11A>G
|
|
|
|
NM_025114.4(CEP290):c.1360-14T>G
|
|
|
|
NM_025114.4(CEP290):c.1360-1G>C
|
|
|
|
NM_025114.4(CEP290):c.1360-4T>C
|
|
|
|
NM_025114.4(CEP290):c.1360-7T>C
|
|
|
|
NM_025114.4(CEP290):c.1360-9A>C
|
rs2137905309
|
|
|
NM_025114.4(CEP290):c.1360-9del
|
|
|
|
NM_025114.4(CEP290):c.1362A>G (p.Gly454=)
|
|
|
|
NM_025114.4(CEP290):c.1365A>G (p.Val455=)
|
|
|
|
NM_025114.4(CEP290):c.1371T>C (p.Gly457=)
|
|
|
|
NM_025114.4(CEP290):c.1380T>C (p.Asp460=)
|
|
|
|
NM_025114.4(CEP290):c.1386C>A (p.Val462=)
|
rs886038689
|
|
|
NM_025114.4(CEP290):c.1389T>A (p.Val463=)
|
|
|
|
NM_025114.4(CEP290):c.1390G>C (p.Glu464Gln)
|
rs1437841365
|
|
|
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)
|
rs1437841365
|
|
|
NM_025114.4(CEP290):c.1392A>G (p.Glu464=)
|
|
|
|
NM_025114.4(CEP290):c.1393del (p.Glu464_Ile465insTer)
|
rs2039321844
|
|
|
NM_025114.4(CEP290):c.13A>T (p.Ile5Leu)
|
|
|
|
NM_025114.4(CEP290):c.1400del (p.Asn467fs)
|
rs2137903965
|
|
|
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr)
|
|
|
|
NM_025114.4(CEP290):c.1405A>G (p.Lys469Glu)
|
|
|
|
NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter)
|
rs1361189290
|
|
|
NM_025114.4(CEP290):c.1419A>G (p.Lys473=)
|
rs2137903473
|
|
|
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)
|
rs771266705
|
|
|
NM_025114.4(CEP290):c.141T>C (p.Asn47=)
|
rs1267471683
|
|
|
NM_025114.4(CEP290):c.1429C>A (p.Arg477=)
|
rs1170451277
|
|
|
NM_025114.4(CEP290):c.1434G>A (p.Glu478=)
|
|
|
|
NM_025114.4(CEP290):c.1435_1436del (p.Glu478_Ile479insTer)
|
|
|
|
NM_025114.4(CEP290):c.1436T>C (p.Ile479Thr)
|
|
|
|
NM_025114.4(CEP290):c.1451del (p.Lys484fs)
|
rs386834149
|
|
|
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
|
|
|
|
NM_025114.4(CEP290):c.1471T>A (p.Leu491Met)
|
|
|
|
NM_025114.4(CEP290):c.147A>G (p.Ile49Met)
|
|
|
|
NM_025114.4(CEP290):c.1480del (p.Ser494fs)
|
|
|
|
NM_025114.4(CEP290):c.1482T>C (p.Ser494=)
|
rs1295495930
|
|
|
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)
|
rs878853363
|
|
|
NM_025114.4(CEP290):c.1493A>T (p.Asp498Val)
|
rs2039315374
|
|
|
NM_025114.4(CEP290):c.149A>G (p.His50Arg)
|
rs2138298302
|
|
|
NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter)
|
|
|
|
NM_025114.4(CEP290):c.1504G>A (p.Ala502Thr)
|
rs1035966537
|
|
|
NM_025114.4(CEP290):c.1508T>G (p.Leu503Arg)
|
rs761301690
|
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
|
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
|
rs886043303
|
|
|
NM_025114.4(CEP290):c.1515G>A (p.Glu505=)
|
|
|
|
NM_025114.4(CEP290):c.1518dup (p.Val507fs)
|
|
|
|
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe)
|
rs1264332374
|
|
|
NM_025114.4(CEP290):c.1522+11T>C
|
|
|
|
NM_025114.4(CEP290):c.1522+14T>G
|
|
|
|
NM_025114.4(CEP290):c.1522+15A>C
|
|
|
|
NM_025114.4(CEP290):c.1522+20A>T
|
|
|
|
NM_025114.4(CEP290):c.1522+8A>G
|
rs1410927153
|
|
|
NM_025114.4(CEP290):c.1522+9T>C
|
rs982222564
|
|
|
NM_025114.4(CEP290):c.1523-10del
|
rs2039228878
|
|
|
NM_025114.4(CEP290):c.1523-13C>T
|
|
|
|
NM_025114.4(CEP290):c.1523-14G>A
|
|
|
|
NM_025114.4(CEP290):c.1523-15del
|
rs2137876506
|
|
|
NM_025114.4(CEP290):c.1523-18T>C
|
|
|
|
NM_025114.4(CEP290):c.1523-19A>G
|
|
|
|
NM_025114.4(CEP290):c.1523-1G>T
|
rs1192112844
|
|
|
NM_025114.4(CEP290):c.1523G>A (p.Gly508Asp)
|
rs2039227577
|
|
|
NM_025114.4(CEP290):c.1524C>T (p.Gly508=)
|
|
|
|
NM_025114.4(CEP290):c.1527T>G (p.Leu509=)
|
|
|
|
NM_025114.4(CEP290):c.1550dup (p.Leu517fs)
|
rs62640579
|
|
|
NM_025114.4(CEP290):c.1564A>C (p.Asn522His)
|
|
|
|
NM_025114.4(CEP290):c.1565A>G (p.Asn522Ser)
|
rs751732097
|
|
|
NM_025114.4(CEP290):c.1584G>A (p.Gln528=)
|
|
|
|
NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter)
|
|
|
|
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg)
|
rs1390141039
|
|
|
NM_025114.4(CEP290):c.1590G>C (p.Gln530His)
|
rs766779533
|
|
|
NM_025114.4(CEP290):c.1593C>T (p.Tyr531=)
|
rs763559949
|
|
|
NM_025114.4(CEP290):c.1596A>C (p.Arg532Ser)
|
rs770310236
|
|
|
NM_025114.4(CEP290):c.1597G>T (p.Ala533Ser)
|
|
|
|
NM_025114.4(CEP290):c.1599T>G (p.Ala533=)
|
rs2137874116
|
|
|
NM_025114.4(CEP290):c.1600G>A (p.Glu534Lys)
|
|
|
|
NM_025114.4(CEP290):c.1602A>G (p.Glu534=)
|
|
|
|
NM_025114.4(CEP290):c.1605C>T (p.Asn535=)
|
|
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
|
NM_025114.4(CEP290):c.1611T>A (p.Ile537=)
|
|
|
|
NM_025114.4(CEP290):c.1611T>C (p.Ile537=)
|
|
|
|
NM_025114.4(CEP290):c.1615T>G (p.Leu539Val)
|
rs2137873551
|
|
|
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
|
|
|
|
NM_025114.4(CEP290):c.1623+10G>T
|
rs377529198
|
|
|
NM_025114.4(CEP290):c.1623+10_1623+11dup
|
|
|
|
NM_025114.4(CEP290):c.1623+18T>C
|
|
|
|
NM_025114.4(CEP290):c.1623+1G>A
|
rs863225186
|
|
|
NM_025114.4(CEP290):c.1623+7G>T
|
rs2137873070
|
|
|
NM_025114.4(CEP290):c.1624-10T>C
|
rs2137871528
|
|
|
NM_025114.4(CEP290):c.1624-12T>G
|
|
|
|
NM_025114.4(CEP290):c.1624-13T>C
|
|
|
|
NM_025114.4(CEP290):c.1624-13T>G
|
|
|
|
NM_025114.4(CEP290):c.1624-14T>G
|
|
|
|
NM_025114.4(CEP290):c.1624-18A>C
|
|
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
|
NM_025114.4(CEP290):c.1625T>C (p.Ile542Thr)
|
rs1180698614
|
|
|
NM_025114.4(CEP290):c.1626T>A (p.Ile542=)
|
rs762272190
|
|
|
NM_025114.4(CEP290):c.1635A>G (p.Leu545=)
|
|
|
|
NM_025114.4(CEP290):c.1636G>C (p.Glu546Gln)
|
rs373498346
|
|
|
NM_025114.4(CEP290):c.1638G>A (p.Glu546=)
|
|
|
|
NM_025114.4(CEP290):c.1644A>C (p.Glu548Asp)
|
|
|
|
NM_025114.4(CEP290):c.1644A>G (p.Glu548=)
|
|
|
|
NM_025114.4(CEP290):c.1646G>T (p.Arg549Leu)
|
|
|
|
NM_025114.4(CEP290):c.1648C>T (p.Leu550Phe)
|
rs2039207431
|
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
|
NM_025114.4(CEP290):c.1650T>A (p.Leu550=)
|
|
|
|
NM_025114.4(CEP290):c.1654C>A (p.Leu552Met)
|
|
|
|
NM_025114.4(CEP290):c.165T>A (p.Thr55=)
|
rs2138297919
|
|
|
NM_025114.4(CEP290):c.165T>C (p.Thr55=)
|
rs2138297919
|
|
|
NM_025114.4(CEP290):c.1664A>T (p.Lys555Ile)
|
|
|
|
NM_025114.4(CEP290):c.1665_1666del (p.Lys555fs)
|
rs727503855
|
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
|
NM_025114.4(CEP290):c.1668T>A (p.Ile556=)
|
rs1458242843
|
|
|
NM_025114.4(CEP290):c.1668del (p.Arg557fs)
|
rs2039204524
|
|
|
NM_025114.4(CEP290):c.166C>T (p.Gln56Ter)
|
rs1592706963
|
|
|
NM_025114.4(CEP290):c.1672C>G (p.Gln558Glu)
|
|
|
|
NM_025114.4(CEP290):c.1675del (p.Met559fs)
|
rs2137868361
|
|
|
NM_025114.4(CEP290):c.167dup (p.Ser57fs)
|
rs2138297703
|
|
|
NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)
|
|
|
|
NM_025114.4(CEP290):c.1683A>G (p.Gln561=)
|
|
|
|
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)
|
rs1272411609
|
|
|
NM_025114.4(CEP290):c.1710A>C (p.Ser570=)
|
rs2137866803
|
|
|
NM_025114.4(CEP290):c.1711+13A>T
|
|
|
|
NM_025114.4(CEP290):c.1711+18A>G
|
rs2137866354
|
|
|
NM_025114.4(CEP290):c.1711+2T>A
|
|
|
|
NM_025114.4(CEP290):c.1711+7T>C
|
|
|
|
NM_025114.4(CEP290):c.1711+9A>G
|
rs1354489737
|
|
|
NM_025114.4(CEP290):c.1712-20G>T
|
|
|
|
NM_025114.4(CEP290):c.1712-4A>G
|
|
|
|
NM_025114.4(CEP290):c.1712-7T>C
|
rs1211882783
|
|
|
NM_025114.4(CEP290):c.1712-9TA[5]
|
rs2137838962
|
|
|
NM_025114.4(CEP290):c.171A>G (p.Ser57=)
|
rs2138297496
|
|
|
NM_025114.4(CEP290):c.1721C>G (p.Thr574Ser)
|
|
|
|
NM_025114.4(CEP290):c.1737A>T (p.Leu579=)
|
rs1173906301
|
|
|
NM_025114.4(CEP290):c.1741G>A (p.Glu581Lys)
|
rs2039101381
|
|
|
NM_025114.4(CEP290):c.1746C>T (p.Asn582=)
|
|
|
|
NM_025114.4(CEP290):c.174A>G (p.Leu58=)
|
rs1257171303
|
|
|
NM_025114.4(CEP290):c.174A>T (p.Leu58=)
|
|
|
|
NM_025114.4(CEP290):c.1750del (p.Ser584fs)
|
rs780954447
|
|
|
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)
|
rs867094910
|
|
|
NM_025114.4(CEP290):c.1757G>A (p.Gly586Glu)
|
|
|
|
NM_025114.4(CEP290):c.1758A>G (p.Gly586=)
|
|
|
|
NM_025114.4(CEP290):c.1761T>C (p.Asp587=)
|
|
|
|
NM_025114.4(CEP290):c.1767A>G (p.Ile589Met)
|
|
|
|
NM_025114.4(CEP290):c.1769G>C (p.Ser590Thr)
|
|
|
|
NM_025114.4(CEP290):c.1781T>C (p.Leu594Ser)
|
rs371496675
|
|
|
NM_025114.4(CEP290):c.1782G>T (p.Leu594Phe)
|
rs1283118657
|
|
|
NM_025114.4(CEP290):c.1788A>G (p.Leu596=)
|
rs1223585284
|
|
|
NM_025114.4(CEP290):c.1789T>C (p.Leu597=)
|
rs2039096949
|
|
|
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)
|
|
|
|
NM_025114.4(CEP290):c.1790_1805del (p.Leu596_Leu597insTer)
|
|
|
|
NM_025114.4(CEP290):c.1791G>A (p.Leu597=)
|
rs1346086093
|
|
|
NM_025114.4(CEP290):c.1797C>A (p.Leu599=)
|
rs2137836275
|
|
|
NM_025114.4(CEP290):c.1797C>G (p.Leu599=)
|
|
|
|
NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter)
|
rs2137836218
|
|
|
NM_025114.4(CEP290):c.180+10_180+11dup
|
|
|
|
NM_025114.4(CEP290):c.180+11A>G
|
rs2138296866
|
|
|
NM_025114.4(CEP290):c.180+12G>T
|
|
|
|
NM_025114.4(CEP290):c.180+13T>C
|
|
|
|
NM_025114.4(CEP290):c.180+14A>T
|
|
|
|
NM_025114.4(CEP290):c.180+15G>T
|
|
|
|
NM_025114.4(CEP290):c.180+18T>G
|
|
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
|
NM_025114.4(CEP290):c.180+8T>C
|
rs750648438
|
|
|
NM_025114.4(CEP290):c.1801A>G (p.Asn601Asp)
|
|
|
|
NM_025114.4(CEP290):c.1802del (p.Asn601fs)
|
|
|
|
NM_025114.4(CEP290):c.1805del (p.Met602fs)
|
|
|
|
NM_025114.4(CEP290):c.180G>A (p.Lys60=)
|
|
|
|
NM_025114.4(CEP290):c.181-10T>A
|
|
|
|
NM_025114.4(CEP290):c.181-10del
|
rs1302625844
|
|
|
NM_025114.4(CEP290):c.181-10dup
|
|
|
|
NM_025114.4(CEP290):c.181-17C>A
|
|
|
|
NM_025114.4(CEP290):c.181-17C>G
|
|
|
|
NM_025114.4(CEP290):c.181-18C>T
|
|
|
|
NM_025114.4(CEP290):c.181-4T>A
|
rs773899264
|
|
|
NM_025114.4(CEP290):c.181-6G>A
|
rs975947396
|
|
|
NM_025114.4(CEP290):c.181-7T>C
|
rs2138267601
|
|
|
NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter)
|
|
|
|
NM_025114.4(CEP290):c.1824+12G>A
|
|
|
|
NM_025114.4(CEP290):c.1824+14A>G
|
|
|
|
NM_025114.4(CEP290):c.1824+15dup
|
rs746448124
|
|
|
NM_025114.4(CEP290):c.1824+17G>A
|
|
|
|
NM_025114.4(CEP290):c.1824+18C>A
|
|
|
|
NM_025114.4(CEP290):c.1824+7G>A
|
|
|
|
NM_025114.4(CEP290):c.1824+7G>C
|
|
|
|
NM_025114.4(CEP290):c.1824+9A>G
|
rs2137835565
|
|
|
NM_025114.4(CEP290):c.1825-11G>C
|
|
|
|
NM_025114.4(CEP290):c.1825-16T>C
|
|
|
|
NM_025114.4(CEP290):c.1825-17C>A
|
rs1271533024
|
|
|
NM_025114.4(CEP290):c.1825-17C>T
|
|
|
|
NM_025114.4(CEP290):c.1825-17CT[2]
|
rs367600498
|
|
|
NM_025114.4(CEP290):c.1825-19T>G
|
|
|
|
NM_025114.4(CEP290):c.1827T>C (p.Asn609=)
|
|
|
|
NM_025114.4(CEP290):c.1830A>G (p.Glu610=)
|
rs2038962868
|
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
|
NM_025114.4(CEP290):c.1839A>T (p.Ser613=)
|
|
|
|
NM_025114.4(CEP290):c.1844_1845dup (p.Leu616fs)
|
|
|
|
NM_025114.4(CEP290):c.1851T>C (p.Ile617=)
|
|
|
|
NM_025114.4(CEP290):c.1854A>G (p.Glu618=)
|
rs1457478471
|
|
|
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)
|
rs1203763812
|
|
|
NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs)
|
rs386834151
|
|
|
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)
|
rs766608755
|
|
|
NM_025114.4(CEP290):c.1862G>C (p.Arg621Thr)
|
|
|
|
NM_025114.4(CEP290):c.1863A>G (p.Arg621=)
|
|
|
|
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)
|
rs1033594764
|
|
|
NM_025114.4(CEP290):c.1875G>A (p.Arg625=)
|
|
|
|
NM_025114.4(CEP290):c.1878T>C (p.Ser626=)
|
|
|
|
NM_025114.4(CEP290):c.1884A>C (p.Thr628=)
|
|
|
|
NM_025114.4(CEP290):c.1884A>G (p.Thr628=)
|
|
|
|
NM_025114.4(CEP290):c.188C>T (p.Ala63Val)
|
rs769705891
|
|
|
NM_025114.4(CEP290):c.1899T>C (p.Phe633=)
|
|
|
|
NM_025114.4(CEP290):c.1908A>G (p.Lys636=)
|
|
|
|
NM_025114.4(CEP290):c.1909+14A>T
|
|
|
|
NM_025114.4(CEP290):c.1909+17T>C
|
|
|
|
NM_025114.4(CEP290):c.1909+9C>G
|
rs2038957507
|
|
|
NM_025114.4(CEP290):c.190C>T (p.Gln64Ter)
|
rs1166981120
|
|
|
NM_025114.4(CEP290):c.1910-10_1910-9del
|
rs773520477
|
|
|
NM_025114.4(CEP290):c.1910-1G>A
|
|
|
|
NM_025114.4(CEP290):c.1910-27_1910-19del
|
|
|
|
NM_025114.4(CEP290):c.1910-4A>G
|
|
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
|
NM_025114.4(CEP290):c.191AAG[1] (p.Glu65del)
|
rs1312256490
|
|
|
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)
|
rs886049883
|
|
|
NM_025114.4(CEP290):c.1926A>T (p.Glu642Asp)
|
|
|
|
NM_025114.4(CEP290):c.1935G>A (p.Lys645=)
|
|
|
|
NM_025114.4(CEP290):c.1944A>G (p.Glu648=)
|
|
|
|
NM_025114.4(CEP290):c.1963T>C (p.Leu655=)
|
rs2137782192
|
|
|
NM_025114.4(CEP290):c.1965G>A (p.Leu655=)
|
rs2137782106
|
|
|
NM_025114.4(CEP290):c.1968A>G (p.Gln656=)
|
rs2038920205
|
|
|
NM_025114.4(CEP290):c.1970C>A (p.Ala657Glu)
|
rs2038920051
|
|
|
NM_025114.4(CEP290):c.1972A>G (p.Ile658Val)
|
rs2038919900
|
|
|
NM_025114.4(CEP290):c.1982T>G (p.Met661Arg)
|
rs2137781691
|
|
|
NM_025114.4(CEP290):c.1986G>A (p.Gln662=)
|
|
|
|
NM_025114.4(CEP290):c.1987A>G (p.Lys663Glu)
|
|
|
|
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)
|
rs2038919221
|
|
|
NM_025114.4(CEP290):c.1989dup (p.Asp664fs)
|
|
|
|
NM_025114.4(CEP290):c.1992del (p.Pro665fs)
|
rs770175184
|
|
|
NM_025114.4(CEP290):c.1998T>C (p.Asp666=)
|
|
|
|
NM_025114.4(CEP290):c.1A>G (p.Met1Val)
|
rs2040644756
|
|
|
NM_025114.4(CEP290):c.201G>A (p.Glu67=)
|
|
|
|
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile)
|
rs2038915965
|
|
|
NM_025114.4(CEP290):c.2041_2052+23del
|
rs2137779120
|
|
|
NM_025114.4(CEP290):c.2043A>G (p.Arg681=)
|
|
|
|
NM_025114.4(CEP290):c.2047_2050del (p.Val683fs)
|
|
|
|
NM_025114.4(CEP290):c.2052+14T>C
|
rs2137779486
|
|
|
NM_025114.4(CEP290):c.2052+15T>C
|
|
|
|
NM_025114.4(CEP290):c.2052+15dup
|
|
|
|
NM_025114.4(CEP290):c.2052+18T>A
|
|
|
|
NM_025114.4(CEP290):c.2052+1G>A
|
|
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
|
NM_025114.4(CEP290):c.2052+4A>T
|
|
|
|
NM_025114.4(CEP290):c.2052+8A>G
|
|
|
|
NM_025114.4(CEP290):c.2052+9T>C
|
|
|
|
NM_025114.4(CEP290):c.2053-11A>C
|
rs2137726477
|
|
|
NM_025114.4(CEP290):c.2053-14T>C
|
rs2137726582
|
|
|
NM_025114.4(CEP290):c.2053-14_2053-10del
|
|
|
|
NM_025114.4(CEP290):c.2053-16A>G
|
|
|
|
NM_025114.4(CEP290):c.2053-17T>C
|
|
|
|
NM_025114.4(CEP290):c.2053-20A>C
|
|
|
|
NM_025114.4(CEP290):c.2053-20A>G
|
|
|
|
NM_025114.4(CEP290):c.2053-4C>G
|
|
|
|
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr)
|
rs2038714969
|
|
|
NM_025114.4(CEP290):c.2058A>G (p.Ile686Met)
|
|
|
|
NM_025114.4(CEP290):c.2064A>C (p.Ser688=)
|
rs2137725550
|
|
|
NM_025114.4(CEP290):c.2064A>G (p.Ser688=)
|
|
|
|
NM_025114.4(CEP290):c.2067G>A (p.Lys689=)
|
rs1425613490
|
|
|
NM_025114.4(CEP290):c.2070T>C (p.Asn690=)
|
|
|
|
NM_025114.4(CEP290):c.2073A>C (p.Ala691=)
|
|
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
|
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val)
|
rs200454865
|
|
|
NM_025114.4(CEP290):c.2092A>C (p.Ser698Arg)
|
|
|
|
NM_025114.4(CEP290):c.2095C>T (p.Leu699=)
|
rs748627817
|
|
|
NM_025114.4(CEP290):c.2097G>T (p.Leu699=)
|
|
|
|
NM_025114.4(CEP290):c.2099A>G (p.His700Arg)
|
|
|
|
NM_025114.4(CEP290):c.2112del (p.Val705fs)
|
rs863225183
|
|
|
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs)
|
rs62640580
|
|
|
NM_025114.4(CEP290):c.2127C>G (p.Thr709=)
|
|
|
|
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg)
|
|
|
|
NM_025114.4(CEP290):c.2132G>C (p.Arg711Thr)
|
|
|
|
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)
|
rs1440259390
|
|
|
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)
|
|
|
|
NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter)
|
|
|
|
NM_025114.4(CEP290):c.214G>T (p.Glu72Ter)
|
|
|
|
NM_025114.4(CEP290):c.2163A>G (p.Glu721=)
|
rs2137722314
|
|
|
NM_025114.4(CEP290):c.216A>T (p.Glu72Asp)
|
|
|
|
NM_025114.4(CEP290):c.2173G>A (p.Glu725Lys)
|
|
|
|
NM_025114.4(CEP290):c.2177C>T (p.Ala726Val)
|
rs1592608053
|
|
|
NM_025114.4(CEP290):c.2179A>G (p.Ile727Val)
|
|
|
|
NM_025114.4(CEP290):c.2180T>C (p.Ile727Thr)
|
rs2137721924
|
|
|
NM_025114.4(CEP290):c.2186A>T (p.Tyr729Phe)
|
|
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
|
NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter)
|
|
|
|
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)
|
|
|
|
NM_025114.4(CEP290):c.2197T>C (p.Leu733=)
|
|
|
|
NM_025114.4(CEP290):c.2199G>A (p.Leu733=)
|
rs2137721385
|
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
|
NM_025114.4(CEP290):c.2202A>G (p.Ala734=)
|
rs2137721256
|
|
|
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)
|
rs2137720951
|
|
|
NM_025114.4(CEP290):c.2217+17A>G
|
rs2137720557
|
|
|
NM_025114.4(CEP290):c.2217+19A>G
|
|
|
|
NM_025114.4(CEP290):c.2217+1G>T
|
|
|
|
NM_025114.4(CEP290):c.2217+2T>C
|
rs2038702746
|
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
|
NM_025114.4(CEP290):c.2217+3G>C
|
rs765291878
|
|
|
NM_025114.4(CEP290):c.2217+5G>T
|
|
|
|
NM_025114.4(CEP290):c.2217+7A>G
|
|
|
|
NM_025114.4(CEP290):c.2218-13T>A
|
rs780987235
|
|
|
NM_025114.4(CEP290):c.2218-13dup
|
rs143621850
|
|
|
NM_025114.4(CEP290):c.2218-15G>A
|
rs993016017
|
|
|
NM_025114.4(CEP290):c.2218-16G>A
|
|
|
|
NM_025114.4(CEP290):c.2218-4C>T
|
rs2137713156
|
|
|
NM_025114.4(CEP290):c.2218-5del
|
rs143621850
|
|
|
NM_025114.4(CEP290):c.2218-6T>C
|
|
|
|
NM_025114.4(CEP290):c.2218A>T (p.Ile740Leu)
|
rs754736974
|
|
|
NM_025114.4(CEP290):c.2227C>T (p.Leu743Phe)
|
|
|
|
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu)
|
rs1193394531
|
|
|
NM_025114.4(CEP290):c.2235A>G (p.Lys745=)
|
|
|
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
|
|
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
|
rs2038674474
|
|
|
NM_025114.4(CEP290):c.2247T>C (p.Leu749=)
|
rs762072403
|
|
|
NM_025114.4(CEP290):c.2250A>G (p.Leu750=)
|
|
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
|
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln)
|
rs1360220092
|
|
|
NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter)
|
rs2137711696
|
|
|
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)
|
|
|
|
NM_025114.4(CEP290):c.2259A>G (p.Ser753=)
|
|
|
|
NM_025114.4(CEP290):c.225A>G (p.Lys75=)
|
rs2040521242
|
|
|
NM_025114.4(CEP290):c.2267_2268inv (p.Ser756Leu)
|
|
|
|
NM_025114.4(CEP290):c.2268= (p.Ser756=)
|
rs2468255
|
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
|
NM_025114.4(CEP290):c.2268A>T (p.Ser756=)
|
rs2468255
|
|
|
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer)
|
|
|
|
NM_025114.4(CEP290):c.2276T>G (p.Val759Gly)
|
rs2038671061
|
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
|
NM_025114.4(CEP290):c.2286A>G (p.Gly762=)
|
rs1171982729
|
|
|
NM_025114.4(CEP290):c.228T>C (p.Ala76=)
|
|
|
|
NM_025114.4(CEP290):c.2293T>C (p.Leu765=)
|
|
|
|
NM_025114.4(CEP290):c.2296C>A (p.Pro766Thr)
|
|
|
|
NM_025114.4(CEP290):c.2301T>C (p.Asp767=)
|
|
|
|
NM_025114.4(CEP290):c.2304G>C (p.Gly768=)
|
|
|
|
NM_025114.4(CEP290):c.2315C>A (p.Ser772Tyr)
|
rs2137709342
|
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
|
NM_025114.4(CEP290):c.231A>G (p.Gly77=)
|
rs753852812
|
|
|
NM_025114.4(CEP290):c.2321C>G (p.Ala774Gly)
|
|
|
|
NM_025114.4(CEP290):c.2322C>T (p.Ala774=)
|
|
|
|
NM_025114.4(CEP290):c.2328C>T (p.Ile776=)
|
rs2137708829
|
|
|
NM_025114.4(CEP290):c.2332_2334del (p.Asn778del)
|
rs2038666741
|
|
|
NM_025114.4(CEP290):c.2337T>G (p.Ser779=)
|
|
|
|
NM_025114.4(CEP290):c.2340_2341del (p.Gln780_Asn781insTer)
|
|
|
|
NM_025114.4(CEP290):c.2361G>A (p.Leu787=)
|
rs1337194775
|
|
|
NM_025114.4(CEP290):c.2365C>A (p.Gln789Lys)
|
rs2137707386
|
|
|
NM_025114.4(CEP290):c.2367+10A>G
|
|
|
|
NM_025114.4(CEP290):c.2367+2T>C
|
rs2137707354
|
|
|
NM_025114.4(CEP290):c.2367+8A>G
|
rs1373970415
|
|
|
NM_025114.4(CEP290):c.2367+9A>C
|
|
|
|
NM_025114.4(CEP290):c.2368-10del
|
rs2137665854
|
|
|
NM_025114.4(CEP290):c.2368-16C>A
|
|
|
|
NM_025114.4(CEP290):c.2368-19T>C
|
rs2137665948
|
|
|
NM_025114.4(CEP290):c.2368-1G>T
|
rs2137665576
|
|
|
NM_025114.4(CEP290):c.2368-4T>A
|
rs2137665617
|
|
|
NM_025114.4(CEP290):c.2368-5_2368-4del
|
|
|
|
NM_025114.4(CEP290):c.2368-8C>T
|
|
|
|
NM_025114.4(CEP290):c.2371C>T (p.Leu791=)
|
rs2137665532
|
|
|
NM_025114.4(CEP290):c.2373A>G (p.Leu791=)
|
rs760126835
|
|
|
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del)
|
rs2038499476
|
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
|
NM_025114.4(CEP290):c.2400T>C (p.Asn800=)
|
rs2038497441
|
|
|
NM_025114.4(CEP290):c.2406del (p.Asp803fs)
|
|
|
|
NM_025114.4(CEP290):c.2418A>G (p.Glu806=)
|
rs2137663910
|
|
|
NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys)
|
|
|
|
NM_025114.4(CEP290):c.2428A>C (p.Arg810=)
|
rs2137663513
|
|
|
NM_025114.4(CEP290):c.2433del (p.Lys811fs)
|
rs2137663442
|
|
|
NM_025114.4(CEP290):c.2435T>A (p.Phe812Tyr)
|
rs2038494496
|
|
|
NM_025114.4(CEP290):c.243A>T (p.Ala81=)
|
|
|
|
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)
|
rs955251811
|
|
|
NM_025114.4(CEP290):c.2447G>C (p.Arg816Pro)
|
rs768448895
|
|
|
NM_025114.4(CEP290):c.2447G>T (p.Arg816Leu)
|
rs768448895
|
|
|
NM_025114.4(CEP290):c.2450A>G (p.His817Arg)
|
rs1251392498
|
|
|
NM_025114.4(CEP290):c.2451T>A (p.His817Gln)
|
rs2038492778
|
|
|
NM_025114.4(CEP290):c.2455C>A (p.Gln819Lys)
|
rs2137662565
|
|
|
NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter)
|
|
|
|
NM_025114.4(CEP290):c.2459G>A (p.Ser820Asn)
|
|
|
|
NM_025114.4(CEP290):c.2466G>A (p.Leu822=)
|
rs2137662331
|
|
|
NM_025114.4(CEP290):c.2468A>G (p.Tyr823Cys)
|
rs2137662247
|
|
|
NM_025114.4(CEP290):c.246A>C (p.Lys82Asn)
|
|
|
|
NM_025114.4(CEP290):c.246A>G (p.Lys82=)
|
rs761233532
|
|
|
NM_025114.4(CEP290):c.2478C>T (p.Tyr826=)
|
|
|
|
NM_025114.4(CEP290):c.2482A>T (p.Ser828Cys)
|
|
|
|
NM_025114.4(CEP290):c.2483+10T>G
|
rs1327914633
|
|
|
NM_025114.4(CEP290):c.2483+13G>A
|
|
|
|
NM_025114.4(CEP290):c.2483+15A>G
|
|
|
|
NM_025114.4(CEP290):c.2483+19C>T
|
|
|
|
NM_025114.4(CEP290):c.2483+1G>A
|
rs2137661795
|
|
|
NM_025114.4(CEP290):c.2483+5A>G
|
rs2137661741
|
|
|
NM_025114.4(CEP290):c.2483+7G>T
|
rs886038692
|
|
|
NM_025114.4(CEP290):c.2484-12T>C
|
|
|
|
NM_025114.4(CEP290):c.2484-18G>A
|
|
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[2]
|
rs745522483
|
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[5]
|
rs745522483
|
|
|
NM_025114.4(CEP290):c.2484-2A>C
|
|
|
|
NM_025114.4(CEP290):c.2484-3dup
|
|
|
|
NM_025114.4(CEP290):c.2484-8G>A
|
rs1436691712
|
|
|
NM_025114.4(CEP290):c.2484-9del
|
rs1189055838
|
|
|
NM_025114.4(CEP290):c.2497del (p.Trp833fs)
|
rs2137624524
|
|
|
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)
|
rs2137624440
|
|
|
NM_025114.4(CEP290):c.249T>C (p.Phe83=)
|
|
|
|
NM_025114.4(CEP290):c.250+10T>C
|
rs1317384355
|
|
|
NM_025114.4(CEP290):c.250+11T>A
|
|
|
|
NM_025114.4(CEP290):c.250+13G>A
|
|
|
|
NM_025114.4(CEP290):c.250+14A>G
|
|
|
|
NM_025114.4(CEP290):c.250+16A>G
|
|
|
|
NM_025114.4(CEP290):c.250+1G>A
|
|
|
|
NM_025114.4(CEP290):c.250+9C>G
|
rs2040519029
|
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
|
NM_025114.4(CEP290):c.251-11del
|
rs752284551
|
|
|
NM_025114.4(CEP290):c.251-19dup
|
rs752284551
|
|
|
NM_025114.4(CEP290):c.251-1G>C
|
rs2138259162
|
|
|
NM_025114.4(CEP290):c.251-20del
|
rs879405859
|
|
|
NM_025114.4(CEP290):c.251-2A>G
|
rs951979448
|
|
|
NM_025114.4(CEP290):c.251-4del
|
rs759170743
|
|
|
NM_025114.4(CEP290):c.251-4dup
|
|
|
|
NM_025114.4(CEP290):c.2515A>G (p.Thr839Ala)
|
rs1227513489
|
|
|
NM_025114.4(CEP290):c.2518A>T (p.Ile840Leu)
|
|
|
|
NM_025114.4(CEP290):c.2526G>T (p.Glu842Asp)
|
|
|
|
NM_025114.4(CEP290):c.2533A>C (p.Arg845=)
|
rs371475408
|
|
|
NM_025114.4(CEP290):c.2536A>G (p.Lys846Glu)
|
rs2137623175
|
|
|
NM_025114.4(CEP290):c.2538A>G (p.Lys846=)
|
|
|
|
NM_025114.4(CEP290):c.2544G>A (p.Glu848=)
|
rs1201358340
|
|
|
NM_025114.4(CEP290):c.2545G>C (p.Asp849His)
|
rs1565877637
|
|
|
NM_025114.4(CEP290):c.2547T>C (p.Asp849=)
|
rs1417219342
|
|
|
NM_025114.4(CEP290):c.254del (p.Asn85fs)
|
|
|
|
NM_025114.4(CEP290):c.254dup (p.Asn85fs)
|
rs2138259100
|
|
|
NM_025114.4(CEP290):c.2550A>G (p.Gln850=)
|
|
|
|
NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter)
|
|
|
|
NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter)
|
rs2038335853
|
|
|
NM_025114.4(CEP290):c.2559A>G (p.Gln853=)
|
|
|
|
NM_025114.4(CEP290):c.2565T>C (p.Ala855=)
|
|
|
|
NM_025114.4(CEP290):c.2566A>G (p.Ile856Val)
|
|
|
|
NM_025114.4(CEP290):c.2567dup (p.Val858fs)
|
|
|
|
NM_025114.4(CEP290):c.2568A>C (p.Ile856=)
|
|
|
|
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
|
|
|
|
NM_025114.4(CEP290):c.256C>A (p.Gln86Lys)
|
rs1004064531
|
|
|
NM_025114.4(CEP290):c.256_259del (p.Asn85_Gln86insTer)
|
rs2138258864
|
|
|
NM_025114.4(CEP290):c.2571del (p.Lys857_Val858insTer)
|
|
|
|
NM_025114.4(CEP290):c.2574A>G (p.Val858=)
|
rs768235992
|
|
|
NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)
|
|
|
|
NM_025114.4(CEP290):c.2583T>C (p.Tyr861=)
|
|
|
|
NM_025114.4(CEP290):c.2586+20C>A
|
|
|
|
NM_025114.4(CEP290):c.2586_2586+4del
|
|
|
|
NM_025114.4(CEP290):c.2587-10C>G
|
rs2137619649
|
|
|
NM_025114.4(CEP290):c.2587-14G>T
|
|
|
|
NM_025114.4(CEP290):c.2587-16A>T
|
|
|
|
NM_025114.4(CEP290):c.2587-17G>A
|
|
|
|
NM_025114.4(CEP290):c.2587-1G>A
|
|
|
|
NM_025114.4(CEP290):c.2587-1G>T
|
|
|
|
NM_025114.4(CEP290):c.2587-20A>G
|
|
|
|
NM_025114.4(CEP290):c.258A>G (p.Gln86=)
|
|
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
|
NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser)
|
|
|
|
NM_025114.4(CEP290):c.259T>C (p.Leu87=)
|
|
|
|
NM_025114.4(CEP290):c.2600C>T (p.Ala867Val)
|
rs2038321746
|
|
|
NM_025114.4(CEP290):c.2602C>T (p.Leu868Phe)
|
|
|
|
NM_025114.4(CEP290):c.2608A>G (p.Met870Val)
|
|
|
|
NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)
|
|
|
|
NM_025114.4(CEP290):c.2618A>T (p.Asp873Val)
|
|
|
|
NM_025114.4(CEP290):c.2621A>T (p.Glu874Val)
|
|
|
|
NM_025114.4(CEP290):c.2623A>G (p.Met875Val)
|
|
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
|
NM_025114.4(CEP290):c.2640A>C (p.Ala880=)
|
rs2137617832
|
|
|
NM_025114.4(CEP290):c.2646T>C (p.Asn882=)
|
rs2038318253
|
|
|
NM_025114.4(CEP290):c.2646TAG[1] (p.Ser883del)
|
|
|
|
NM_025114.4(CEP290):c.2652G>A (p.Arg884=)
|
rs2137617412
|
|
|
NM_025114.4(CEP290):c.2655A>G (p.Lys885=)
|
|
|
|
NM_025114.4(CEP290):c.2661T>C (p.Thr887=)
|
rs2137617168
|
|
|
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter)
|
rs886044332
|
|
|
NM_025114.4(CEP290):c.2668del (p.Gln890fs)
|
|
|
|
NM_025114.4(CEP290):c.2673G>A (p.Val891=)
|
|
|
|
NM_025114.4(CEP290):c.267T>G (p.Thr89=)
|
|
|
|
NM_025114.4(CEP290):c.2681A>T (p.Lys894Ile)
|
rs2137616560
|
|
|
NM_025114.4(CEP290):c.2682del (p.Lys894fs)
|
|
|
|
NM_025114.4(CEP290):c.2689dup (p.Ile897fs)
|
|
|
|
NM_025114.4(CEP290):c.2694G>A (p.Arg898=)
|
rs2038314186
|
|
|
NM_025114.4(CEP290):c.2694G>C (p.Arg898Ser)
|
rs2038314186
|
|
|
NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)
|
|
|
|
NM_025114.4(CEP290):c.2697A>G (p.Gln899=)
|
rs770769486
|
|
|
NM_025114.4(CEP290):c.2704A>T (p.Thr902Ser)
|
rs1353471879
|
|
|
NM_025114.4(CEP290):c.2706C>G (p.Thr902=)
|
|
|
|
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
|
|
|
|
NM_025114.4(CEP290):c.2713G>A (p.Glu905Lys)
|
|
|
|
NM_025114.4(CEP290):c.2723G>A (p.Arg908Gln)
|
|
|
|
NM_025114.4(CEP290):c.2728C>T (p.Leu910Phe)
|
rs375348494
|
|
|
NM_025114.4(CEP290):c.272_276del (p.Val91fs)
|
rs2040498071
|
|
|
NM_025114.4(CEP290):c.2730T>C (p.Leu910=)
|
|
|
|
NM_025114.4(CEP290):c.2732_2735del (p.Arg911fs)
|
rs2137614623
|
|
|
NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter)
|
|
|
|
NM_025114.4(CEP290):c.273A>G (p.Val91=)
|
rs768434171
|
|
|
NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter)
|
|
|
|
NM_025114.4(CEP290):c.274_280del (p.Met92fs)
|
rs2138258171
|
|
|
NM_025114.4(CEP290):c.2750A>C (p.Gln917Pro)
|
|
|
|
NM_025114.4(CEP290):c.2757T>C (p.Asn919=)
|
|
|
|
NM_025114.4(CEP290):c.2763G>A (p.Leu921=)
|
rs760283430
|
|
|
NM_025114.4(CEP290):c.2776G>C (p.Ala926Pro)
|
|
|
|
NM_025114.4(CEP290):c.2781A>G (p.Glu927=)
|
rs2137612847
|
|
|
NM_025114.4(CEP290):c.2782G>C (p.Val928Leu)
|
|
|
|
NM_025114.4(CEP290):c.2784T>G (p.Val928=)
|
|
|
|
NM_025114.4(CEP290):c.2785T>A (p.Cys929Ser)
|
rs770836483
|
|
|
NM_025114.4(CEP290):c.2801_2802del (p.Cys934fs)
|
|
|
|
NM_025114.4(CEP290):c.2813T>C (p.Phe938Ser)
|
|
|
|
NM_025114.4(CEP290):c.2817+10A>G
|
|
|
|
NM_025114.4(CEP290):c.2817+10A>T
|
rs2137611795
|
|
|
NM_025114.4(CEP290):c.2817+14T>C
|
|
|
|
NM_025114.4(CEP290):c.2817+16A>G
|
|
|
|
NM_025114.4(CEP290):c.2817+17T>C
|
|
|
|
NM_025114.4(CEP290):c.2817+17T>G
|
|
|
|
NM_025114.4(CEP290):c.2817+19T>A
|
|
|
|
NM_025114.4(CEP290):c.2817+1G>T
|
|
|
|
NM_025114.4(CEP290):c.2818-10A>G
|
rs2137544573
|
|
|
NM_025114.4(CEP290):c.2818-14C>A
|
|
|
|
NM_025114.4(CEP290):c.2818-14C>T
|
|
|
|
NM_025114.4(CEP290):c.2818-15T>A
|
|
|
|
NM_025114.4(CEP290):c.2818-20G>A
|
|
|
|
NM_025114.4(CEP290):c.2818-4A>G
|
rs2137544449
|
|
|
NM_025114.4(CEP290):c.2818-6A>G
|
|
|
|
NM_025114.4(CEP290):c.2821A>G (p.Met941Val)
|
rs2038012227
|
|
|
NM_025114.4(CEP290):c.2826C>T (p.Ala942=)
|
rs1456663660
|
|
|
NM_025114.4(CEP290):c.282G>A (p.Leu94=)
|
|
|
|
NM_025114.4(CEP290):c.2841A>T (p.Ala947=)
|
rs1252435155
|
|
|
NM_025114.4(CEP290):c.2844T>A (p.Ala948=)
|
rs2137543585
|
|
|
NM_025114.4(CEP290):c.2847C>T (p.Leu949=)
|
|
|
|
NM_025114.4(CEP290):c.2853A>G (p.Lys951=)
|
rs2038009620
|
|
|
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser)
|
rs1443848622
|
|
|
NM_025114.4(CEP290):c.2874T>G (p.Ser958=)
|
|
|
|
NM_025114.4(CEP290):c.2884C>A (p.Leu962Ile)
|
|
|
|
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)
|
rs1180594304
|
|
|
NM_025114.4(CEP290):c.2890C>T (p.Leu964=)
|
rs1237834262
|
|
|
NM_025114.4(CEP290):c.2898T>C (p.Asn966=)
|
rs2137542191
|
|
|
NM_025114.4(CEP290):c.2901A>T (p.Lys967Asn)
|
|
|
|
NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter)
|
rs1592574519
|
|
|
NM_025114.4(CEP290):c.2911G>A (p.Glu971Lys)
|
rs780805963
|
|
|
NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter)
|
rs780805963
|
|
|
NM_025114.4(CEP290):c.291A>T (p.Glu97Asp)
|
rs757402765
|
|
|
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys)
|
rs1039332206
|
|
|
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=)
|
rs1393060819
|
|
|
NM_025114.4(CEP290):c.2929A>G (p.Arg977Gly)
|
rs765840717
|
|
|
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)
|
rs2040497202
|
|
|
NM_025114.4(CEP290):c.2931G>A (p.Arg977=)
|
|
|
|
NM_025114.4(CEP290):c.2932G>T (p.Asp978Tyr)
|
rs2137541060
|
|
|
NM_025114.4(CEP290):c.2933A>G (p.Asp978Gly)
|
rs758309007
|
|
|
NM_025114.4(CEP290):c.2933del (p.Asp978fs)
|
|
|
|
NM_025114.4(CEP290):c.2934C>T (p.Asp978=)
|
rs2038000673
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
|
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile)
|
rs2037998907
|
|
|
NM_025114.4(CEP290):c.2952T>C (p.Asn984=)
|
rs1007548055
|
|
|
NM_025114.4(CEP290):c.2953A>G (p.Met985Val)
|
rs1160930595
|
|
|
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile)
|
rs2037998320
|
|
|
NM_025114.4(CEP290):c.2958del (p.Val987fs)
|
|
|
|
NM_025114.4(CEP290):c.2965A>C (p.Arg989=)
|
rs2037997734
|
|
|
NM_025114.4(CEP290):c.297+10T>C
|
rs2138257173
|
|
|
NM_025114.4(CEP290):c.297+11T>C
|
|
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
|
NM_025114.4(CEP290):c.297+1G>C
|
|
|
|
NM_025114.4(CEP290):c.297+1del
|
rs2138257533
|
|
|
NM_025114.4(CEP290):c.297+8T>A
|
rs2138257277
|
|
|
NM_025114.4(CEP290):c.297+9T>C
|
rs2138257225
|
|
|
NM_025114.4(CEP290):c.2975A>G (p.Asn992Ser)
|
rs2137539633
|
|
|
NM_025114.4(CEP290):c.298-15G>A
|
|
|
|
NM_025114.4(CEP290):c.298-16G>A
|
rs531851010
|
|
|
NM_025114.4(CEP290):c.298-16G>C
|
rs531851010
|
|
|
NM_025114.4(CEP290):c.298-16G>T
|
|
|
|
NM_025114.4(CEP290):c.298-20T>G
|
|
|
|
NM_025114.4(CEP290):c.298-7C>T
|
rs2040376906
|
|
|
NM_025114.4(CEP290):c.2983C>T (p.His995Tyr)
|
rs2137539514
|
|
|
NM_025114.4(CEP290):c.2986C>T (p.Leu996=)
|
rs759867592
|
|
|
NM_025114.4(CEP290):c.2991+17C>T
|
|
|
|
NM_025114.4(CEP290):c.2991+20G>T
|
|
|
|
NM_025114.4(CEP290):c.2991+3A>C
|
|
|
|
NM_025114.4(CEP290):c.2992-10C>G
|
rs2137426807
|
|
|
NM_025114.4(CEP290):c.2992-11C>T
|
|
|
|
NM_025114.4(CEP290):c.2992-17A>G
|
|
|
|
NM_025114.4(CEP290):c.2992-18T>C
|
|
|
|
NM_025114.4(CEP290):c.2992-20del
|
|
|
|
NM_025114.4(CEP290):c.2992-2A>C
|
|
|
|
NM_025114.4(CEP290):c.2992-6dup
|
rs2137426720
|
|
|
NM_025114.4(CEP290):c.2992-7T>C
|
|
|
|
NM_025114.4(CEP290):c.2992T>G (p.Cys998Gly)
|
rs2037480137
|
|
|
NM_025114.4(CEP290):c.2997A>G (p.Glu999=)
|
rs2137426535
|
|
|
NM_025114.4(CEP290):c.3000C>T (p.Asn1000=)
|
|
|
|
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
|
rs1555213204
|
|
|
NM_025114.4(CEP290):c.3013G>C (p.Glu1005Gln)
|
rs2037478393
|
|
|
NM_025114.4(CEP290):c.3013G>T (p.Glu1005Ter)
|
rs2037478393
|
|
|
NM_025114.4(CEP290):c.3014A>G (p.Glu1005Gly)
|
|
|
|
NM_025114.4(CEP290):c.3018A>G (p.Gln1006=)
|
|
|
|
NM_025114.4(CEP290):c.3019G>A (p.Val1007Met)
|
rs2137425726
|
|
|
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala)
|
rs898733071
|
|
|
NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter)
|
rs2037477197
|
|
|
NM_025114.4(CEP290):c.3023_3024insCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAACAAGTGGA (p.Glu1008delinsAspLeuTer)
|
rs2137425453
|
|
|
NM_025114.4(CEP290):c.3036A>G (p.Lys1012=)
|
rs2137424983
|
|
|
NM_025114.4(CEP290):c.3037G>A (p.Glu1013Lys)
|
|
|
|
NM_025114.4(CEP290):c.303T>C (p.Ala101=)
|
rs2040376122
|
|
|
NM_025114.4(CEP290):c.3045G>A (p.Glu1015=)
|
rs2137424685
|
|
|
NM_025114.4(CEP290):c.305A>G (p.Gln102Arg)
|
|
|
|
NM_025114.4(CEP290):c.3066C>T (p.His1022=)
|
|
|
|
NM_025114.4(CEP290):c.3070A>G (p.Ile1024Val)
|
|
|
|
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=)
|
rs779561006
|
|
|
NM_025114.4(CEP290):c.3081C>T (p.Ala1027=)
|
|
|
|
NM_025114.4(CEP290):c.3082T>G (p.Trp1028Gly)
|
rs2037472723
|
|
|
NM_025114.4(CEP290):c.3093A>G (p.Glu1031=)
|
|
|
|
NM_025114.4(CEP290):c.309G>A (p.Gln103=)
|
|
|
|
NM_025114.4(CEP290):c.30A>C (p.Ile10=)
|
|
|
|
NM_025114.4(CEP290):c.3103+13A>G
|
|
|
|
NM_025114.4(CEP290):c.3103+15T>C
|
|
|
|
NM_025114.4(CEP290):c.3103+17T>C
|
|
|
|
NM_025114.4(CEP290):c.3103+19A>G
|
|
|
|
NM_025114.4(CEP290):c.3103+1G>A
|
|
|
|
NM_025114.4(CEP290):c.3103G>T (p.Gly1035Cys)
|
rs1195864585
|
|
|
NM_025114.4(CEP290):c.3104-11A>T
|
|
|
|
NM_025114.4(CEP290):c.3104-14A>G
|
|
|
|
NM_025114.4(CEP290):c.3104-16A>G
|
|
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
|
NM_025114.4(CEP290):c.3104-5T>A
|
rs1302558061
|
|
|
NM_025114.4(CEP290):c.3104-8G>A
|
|
|
|
NM_025114.4(CEP290):c.3104-8G>T
|
|
|
|
NM_025114.4(CEP290):c.3104-9T>C
|
|
|
|
NM_025114.4(CEP290):c.3111A>T (p.Glu1037Asp)
|
|
|
|
NM_025114.4(CEP290):c.3115A>C (p.Ser1039Arg)
|
rs2037241839
|
|
|
NM_025114.4(CEP290):c.3116G>A (p.Ser1039Asn)
|
|
|
|
NM_025114.4(CEP290):c.3121G>A (p.Asp1041Asn)
|
|
|
|
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)
|
rs1555212271
|
|
|
NM_025114.4(CEP290):c.312T>G (p.Ser104=)
|
rs2138217275
|
|
|
NM_025114.4(CEP290):c.3130A>G (p.Lys1044Glu)
|
|
|
|
NM_025114.4(CEP290):c.3132G>T (p.Lys1044Asn)
|
rs762342726
|
|
|
NM_025114.4(CEP290):c.3139A>G (p.Ile1047Val)
|
rs2137368973
|
|
|
NM_025114.4(CEP290):c.3148A>C (p.Ser1050Arg)
|
rs1240996430
|
|
|
NM_025114.4(CEP290):c.3150dup (p.Asp1051Ter)
|
rs2137368561
|
|
|
NM_025114.4(CEP290):c.3153C>T (p.Asp1051=)
|
rs2037238077
|
|
|
NM_025114.4(CEP290):c.3156T>A (p.Ile1052=)
|
rs779569679
|
|
|
NM_025114.4(CEP290):c.315A>G (p.Ala105=)
|
|
|
|
NM_025114.4(CEP290):c.3161C>T (p.Ser1054Phe)
|
|
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
|
NM_025114.4(CEP290):c.3175A>C (p.Ile1059Leu)
|
|
|
|
NM_025114.4(CEP290):c.3175A>G (p.Ile1059Val)
|
rs771815959
|
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
|
NM_025114.4(CEP290):c.3176del (p.Ile1059fs)
|
rs863225184
|
|
|
NM_025114.4(CEP290):c.3178_3181del (p.Thr1060fs)
|
rs1450189463
|
|
|
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val)
|
rs1201486566
|
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
|
NM_025114.4(CEP290):c.3184C>T (p.Leu1062=)
|
rs2137366862
|
|
|
NM_025114.4(CEP290):c.318T>G (p.Gly106=)
|
rs2138217159
|
|
|
NM_025114.4(CEP290):c.3198A>T (p.Glu1066Asp)
|
|
|
|
NM_025114.4(CEP290):c.3204T>C (p.Asn1068=)
|
|
|
|
NM_025114.4(CEP290):c.3205G>T (p.Glu1069Ter)
|
rs2137365958
|
|
|
NM_025114.4(CEP290):c.3205_3206delinsTG (p.Glu1069Ter)
|
rs1555212150
|
|
|
NM_025114.4(CEP290):c.3210G>A (p.Arg1070=)
|
rs1592539040
|
|
|
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
|
rs778407127
|
|
|
NM_025114.4(CEP290):c.3214C>A (p.Arg1072=)
|
rs780870106
|
|
|
NM_025114.4(CEP290):c.3214C>T (p.Arg1072Trp)
|
|
|
|
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln)
|
rs1298561837
|
|
|
NM_025114.4(CEP290):c.321A>T (p.Gly107=)
|
|
|
|
NM_025114.4(CEP290):c.3235A>C (p.Met1079Leu)
|
|
|
|
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys)
|
rs902039539
|
|
|
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)
|
rs886042467
|
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
|
NM_025114.4(CEP290):c.3249A>G (p.Leu1083=)
|
|
|
|
NM_025114.4(CEP290):c.3249_3250insAA (p.Arg1084fs)
|
rs2037226237
|
|
|
NM_025114.4(CEP290):c.3249dup (p.Arg1084fs)
|
rs2037226237
|
|
|
NM_025114.4(CEP290):c.3250C>A (p.Arg1084=)
|
rs372918770
|
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
|
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
|
rs372918770
|
|
|
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
|
|
|
|
NM_025114.4(CEP290):c.3252G>A (p.Arg1084=)
|
rs2137363882
|
|
|
NM_025114.4(CEP290):c.3253A>G (p.Thr1085Ala)
|
|
|
|
NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter)
|
|
|
|
NM_025114.4(CEP290):c.3267A>G (p.Gln1089=)
|
|
|
|
NM_025114.4(CEP290):c.3278G>C (p.Arg1093Pro)
|
rs1049569883
|
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
|
NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter)
|
|
|
|
NM_025114.4(CEP290):c.3288A>G (p.Glu1096=)
|
|
|
|
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala)
|
rs750018041
|
|
|
NM_025114.4(CEP290):c.3291G>A (p.Leu1097=)
|
rs2037221962
|
|
|
NM_025114.4(CEP290):c.3297C>G (p.Thr1099=)
|
rs1277434581
|
|
|
NM_025114.4(CEP290):c.3304G>A (p.Ala1102Thr)
|
|
|
|
NM_025114.4(CEP290):c.3309+14A>C
|
|
|
|
NM_025114.4(CEP290):c.3309+16T>G
|
|
|
|
NM_025114.4(CEP290):c.3309+19T>C
|
|
|
|
NM_025114.4(CEP290):c.3309+8A>T
|
rs2137362040
|
|
|
NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)
|
|
|
|
NM_025114.4(CEP290):c.3310-13T>A
|
|
|
|
NM_025114.4(CEP290):c.3310-1_3310delinsAA
|
rs2037150824
|
|
|
NM_025114.4(CEP290):c.3310-2A>G
|
rs2137345150
|
|
|
NM_025114.4(CEP290):c.3310-5C>A
|
rs2137345196
|
|
|
NM_025114.4(CEP290):c.3310-6C>T
|
rs774139392
|
|
|
NM_025114.4(CEP290):c.3310-7del
|
rs2037151700
|
|
|
NM_025114.4(CEP290):c.3313A>C (p.Thr1105Pro)
|
rs772886007
|
|
|
NM_025114.4(CEP290):c.3315C>T (p.Thr1105=)
|
|
|
|
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=)
|
rs2037149786
|
|
|
NM_025114.4(CEP290):c.3330T>C (p.Asp1110=)
|
|
|
|
NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter)
|
rs2137344539
|
|
|
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr)
|
rs780796789
|
|
|
NM_025114.4(CEP290):c.333G>T (p.Arg111=)
|
rs2138216422
|
|
|
NM_025114.4(CEP290):c.3351G>A (p.Met1117Ile)
|
rs2037147645
|
|
|
NM_025114.4(CEP290):c.3352T>G (p.Leu1118Val)
|
|
|
|
NM_025114.4(CEP290):c.3359A>G (p.Asp1120Gly)
|
|
|
|
NM_025114.4(CEP290):c.3363A>G (p.Glu1121=)
|
|
|
|
NM_025114.4(CEP290):c.3375T>A (p.Ser1125Arg)
|
|
|
|
NM_025114.4(CEP290):c.3378G>A (p.Val1126=)
|
rs546939043
|
|
|
NM_025114.4(CEP290):c.3380G>A (p.Ser1127Asn)
|
rs757526726
|
|
|
NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)
|
rs2040373653
|
|
|
NM_025114.4(CEP290):c.3390_3393del (p.Ser1131fs)
|
rs2137342973
|
|
|
NM_025114.4(CEP290):c.3396T>C (p.Asp1132=)
|
rs1291200387
|
|
|
NM_025114.4(CEP290):c.3398C>T (p.Ala1133Val)
|
|
|
|
NM_025114.4(CEP290):c.3399T>C (p.Ala1133=)
|
|
|
|
NM_025114.4(CEP290):c.3405G>A (p.Arg1135=)
|
|
|
|
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys)
|
rs766095901
|
|
|
NM_025114.4(CEP290):c.3418G>C (p.Glu1140Gln)
|
|
|
|
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)
|
rs770474857
|
|
|
NM_025114.4(CEP290):c.3426G>A (p.Glu1142=)
|
rs2137341818
|
|
|
NM_025114.4(CEP290):c.3431A>G (p.Asn1144Ser)
|
rs2137341520
|
|
|
NM_025114.4(CEP290):c.3432_3434dup (p.Asn1144_Glu1145insAsp)
|
rs2137341409
|
|
|
NM_025114.4(CEP290):c.3441A>G (p.Glu1147=)
|
rs2137341183
|
|
|
NM_025114.4(CEP290):c.3448G>A (p.Val1150Ile)
|
rs2137340972
|
|
|
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala)
|
rs2037141100
|
|
|
NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)
|
|
|
|
NM_025114.4(CEP290):c.345T>A (p.Asn115Lys)
|
|
|
|
NM_025114.4(CEP290):c.3460A>G (p.Lys1154Glu)
|
rs753136596
|
|
|
NM_025114.4(CEP290):c.3461+10T>A
|
|
|
|
NM_025114.4(CEP290):c.3461+14A>T
|
rs1469392631
|
|
|
NM_025114.4(CEP290):c.3461+15G>A
|
rs2137340039
|
|
|
NM_025114.4(CEP290):c.3461+17A>G
|
|
|
|
NM_025114.4(CEP290):c.3461+1G>A
|
rs766952056
|
|
|
NM_025114.4(CEP290):c.3461+7G>T
|
rs1565852636
|
|
|
NM_025114.4(CEP290):c.3461+8C>T
|
rs1370236429
|
|
|
NM_025114.4(CEP290):c.3461+9A>G
|
|
|
|
NM_025114.4(CEP290):c.3461A>C (p.Lys1154Thr)
|
rs1050202680
|
|
|
NM_025114.4(CEP290):c.3462-10C>A
|
rs2137305901
|
|
|
NM_025114.4(CEP290):c.3462-12A>T
|
|
|
|
NM_025114.4(CEP290):c.3462-16C>T
|
|
|
|
NM_025114.4(CEP290):c.3462-18T>C
|
|
|
|
NM_025114.4(CEP290):c.3462-19del
|
|
|
|
NM_025114.4(CEP290):c.3462-5C>T
|
rs2036980891
|
|
|
NM_025114.4(CEP290):c.3477T>C (p.Ser1159=)
|
rs2137305444
|
|
|
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe)
|
rs2036979298
|
|
|
NM_025114.4(CEP290):c.3482T>C (p.Ile1161Thr)
|
|
|
|
NM_025114.4(CEP290):c.3486C>G (p.Ala1162=)
|
rs376583223
|
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
|
NM_025114.4(CEP290):c.348A>G (p.Glu116=)
|
|
|
|
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)
|
rs2036977924
|
|
|
NM_025114.4(CEP290):c.3495A>G (p.Gln1165=)
|
|
|
|
NM_025114.4(CEP290):c.3497T>G (p.Val1166Gly)
|
|
|
|
NM_025114.4(CEP290):c.3499G>C (p.Glu1167Gln)
|
|
|
|
NM_025114.4(CEP290):c.3512C>G (p.Ala1171Gly)
|
rs1183095802
|
|
|
NM_025114.4(CEP290):c.3513A>G (p.Ala1171=)
|
|
|
|
NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter)
|
rs2036975289
|
|
|
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del)
|
rs749010290
|
|
|
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys)
|
|
|
|
NM_025114.4(CEP290):c.351T>C (p.Ile117=)
|
|
|
|
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter)
|
rs2036974151
|
|
|
NM_025114.4(CEP290):c.3528G>A (p.Arg1176=)
|
|
|
|
NM_025114.4(CEP290):c.3533A>G (p.Lys1178Arg)
|
rs2137303115
|
|
|
NM_025114.4(CEP290):c.3533del (p.Lys1178fs)
|
rs2036971853
|
|
|
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=)
|
rs756488924
|
|
|
NM_025114.4(CEP290):c.3537A>G (p.Glu1179=)
|
|
|
|
NM_025114.4(CEP290):c.3539T>C (p.Val1180Ala)
|
|
|
|
NM_025114.4(CEP290):c.3540A>G (p.Val1180=)
|
|
|
|
NM_025114.4(CEP290):c.3542A>G (p.Glu1181Gly)
|
rs1402260550
|
|
|
NM_025114.4(CEP290):c.3543G>A (p.Glu1181=)
|
rs2137302632
|
|
|
NM_025114.4(CEP290):c.3545C>A (p.Ser1182Tyr)
|
|
|
|
NM_025114.4(CEP290):c.3546C>A (p.Ser1182=)
|
|
|
|
NM_025114.4(CEP290):c.3546C>G (p.Ser1182=)
|
rs760639256
|
|
|
NM_025114.4(CEP290):c.3546C>T (p.Ser1182=)
|
|
|
|
NM_025114.4(CEP290):c.354C>T (p.Cys118=)
|
rs370725951
|
|
|
NM_025114.4(CEP290):c.3552A>G (p.Arg1184=)
|
rs2137302452
|
|
|
NM_025114.4(CEP290):c.3553A>G (p.Met1185Val)
|
|
|
|
NM_025114.4(CEP290):c.3558A>C (p.Gln1186His)
|
rs1189042096
|
|
|
NM_025114.4(CEP290):c.3558A>G (p.Gln1186=)
|
rs1189042096
|
|
|
NM_025114.4(CEP290):c.355C>T (p.Gln119Ter)
|
rs2138215835
|
|
|
NM_025114.4(CEP290):c.3571C>T (p.Gln1191Ter)
|
|
|
|
NM_025114.4(CEP290):c.3572A>G (p.Gln1191Arg)
|
|
|
|
NM_025114.4(CEP290):c.3573+10G>T
|
|
|
|
NM_025114.4(CEP290):c.3573+13T>C
|
rs2137301378
|
|
|
NM_025114.4(CEP290):c.3573+17C>A
|
|
|
|
NM_025114.4(CEP290):c.3573+1G>A
|
|
|
|
NM_025114.4(CEP290):c.3573+1G>C
|
rs1339320666
|
|
|
NM_025114.4(CEP290):c.3573+1G>T
|
rs1339320666
|
|
|
NM_025114.4(CEP290):c.3573+1del
|
rs2137301783
|
|
|
NM_025114.4(CEP290):c.3573+5G>A
|
rs974204266
|
|
|
NM_025114.4(CEP290):c.3573+7G>T
|
rs2137301511
|
|
|
NM_025114.4(CEP290):c.3574-10_3574-9del
|
|
|
|
NM_025114.4(CEP290):c.3574-15T>G
|
rs565414938
|
|
|
NM_025114.4(CEP290):c.3574-16_3574-15insA
|
|
|
|
NM_025114.4(CEP290):c.3574-16dup
|
rs10717563
|
|
|
NM_025114.4(CEP290):c.3574-17A>G
|
|
|
|
NM_025114.4(CEP290):c.3574-19A>G
|
rs2137281532
|
|
|
NM_025114.4(CEP290):c.3574-1G>A
|
|
|
|
NM_025114.4(CEP290):c.3574-20T>A
|
|
|
|
NM_025114.4(CEP290):c.3574-2A>G
|
|
|
|
NM_025114.4(CEP290):c.3574-5A>G
|
rs2036853648
|
|
|
NM_025114.4(CEP290):c.3574-7A>T
|
|
|
|
NM_025114.4(CEP290):c.3574-7del
|
|
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
|
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)
|
|
|
|
NM_025114.4(CEP290):c.3591G>A (p.Lys1197=)
|
|
|
|
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)
|
rs372640024
|
|
|
NM_025114.4(CEP290):c.3603C>T (p.Ala1201=)
|
|
|
|
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg)
|
rs375065584
|
|
|
NM_025114.4(CEP290):c.3609G>A (p.Leu1203=)
|
|
|
|
NM_025114.4(CEP290):c.3617A>G (p.His1206Arg)
|
|
|
|
NM_025114.4(CEP290):c.361G>T (p.Glu121Ter)
|
rs2138215714
|
|
|
NM_025114.4(CEP290):c.3624C>T (p.Val1208=)
|
rs1331516324
|
|
|
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala)
|
rs2040372439
|
|
|
NM_025114.4(CEP290):c.362A>G (p.Glu121Gly)
|
rs2040372439
|
|
|
NM_025114.4(CEP290):c.3630T>G (p.Leu1210=)
|
|
|
|
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=)
|
|
|
|
NM_025114.4(CEP290):c.3633_3637del (p.Gln1211_Leu1212insTer)
|
rs2137279498
|
|
|
NM_025114.4(CEP290):c.3638G>C (p.Ser1213Thr)
|
|
|
|
NM_025114.4(CEP290):c.3643G>A (p.Ala1215Thr)
|
|
|
|
NM_025114.4(CEP290):c.3643_3652del (p.Ala1215fs)
|
|
|
|
NM_025114.4(CEP290):c.3650C>T (p.Ala1217Val)
|
|
|
|
NM_025114.4(CEP290):c.3651T>C (p.Ala1217=)
|
|
|
|
NM_025114.4(CEP290):c.3660G>A (p.Lys1220=)
|
|
|
|
NM_025114.4(CEP290):c.3669A>C (p.Ser1223=)
|
rs968207045
|
|
|
NM_025114.4(CEP290):c.3669A>G (p.Ser1223=)
|
|
|
|
NM_025114.4(CEP290):c.3675A>T (p.Thr1225=)
|
|
|
|
NM_025114.4(CEP290):c.3677C>T (p.Ser1226Phe)
|
|
|
|
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val)
|
rs1282211647
|
|
|
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile)
|
|
|
|
NM_025114.4(CEP290):c.3697G>A (p.Ala1233Thr)
|
|
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
|
NM_025114.4(CEP290):c.3704A>G (p.Asn1235Ser)
|
rs1344828907
|
|
|
NM_025114.4(CEP290):c.3708G>A (p.Leu1236=)
|
|
|
|
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu)
|
rs7307793
|
|
|
NM_025114.4(CEP290):c.3714A>G (p.Leu1238=)
|
|
|
|
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)
|
|
|
|
NM_025114.4(CEP290):c.3722A>G (p.Lys1241Arg)
|
|
|
|
NM_025114.4(CEP290):c.3723A>G (p.Lys1241=)
|
rs1592856911
|
|
|
NM_025114.4(CEP290):c.3729T>C (p.Asp1243=)
|
|
|
|
NM_025114.4(CEP290):c.372A>G (p.Leu124=)
|
|
|
|
NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter)
|
rs2137277291
|
|
|
NM_025114.4(CEP290):c.3732A>G (p.Glu1244=)
|
rs2137277122
|
|
|
NM_025114.4(CEP290):c.3733_3735del (p.Lys1245del)
|
rs2137277006
|
|
|
NM_025114.4(CEP290):c.3738del (p.Glu1246fs)
|
|
|
|
NM_025114.4(CEP290):c.373G>A (p.Glu125Lys)
|
|
|
|
NM_025114.4(CEP290):c.3741_3752dup (p.Tyr1251Ter)
|
|
|
|
NM_025114.4(CEP290):c.3744T>C (p.Ala1248=)
|
rs2137276523
|
|
|
NM_025114.4(CEP290):c.3745C>T (p.Leu1249Phe)
|
|
|
|
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs)
|
rs2137276301
|
|
|
NM_025114.4(CEP290):c.3756T>C (p.Ala1252=)
|
|
|
|
NM_025114.4(CEP290):c.3761dup (p.Leu1254fs)
|
rs750520052
|
|
|
NM_025114.4(CEP290):c.376C>A (p.Gln126Lys)
|
|
|
|
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs)
|
rs765483163
|
|
|
NM_025114.4(CEP290):c.377A>T (p.Gln126Leu)
|
rs748429036
|
|
|
NM_025114.4(CEP290):c.3780A>G (p.Ala1260=)
|
|
|
|
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
|
rs2036833257
|
|
|
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu)
|
|
|
|
NM_025114.4(CEP290):c.3786_3798del (p.His1262fs)
|
|
|
|
NM_025114.4(CEP290):c.3787C>T (p.Leu1263=)
|
rs370395204
|
|
|
NM_025114.4(CEP290):c.379A>C (p.Lys127Gln)
|
rs781101346
|
|
|
NM_025114.4(CEP290):c.3803del (p.Gln1268fs)
|
rs2036830890
|
|
|
NM_025114.4(CEP290):c.3807T>C (p.Ser1269=)
|
rs1405878362
|
|
|
NM_025114.4(CEP290):c.3808_3809del (p.Leu1270fs)
|
rs1565846034
|
|
|
NM_025114.4(CEP290):c.3810A>C (p.Leu1270=)
|
|
|
|
NM_025114.4(CEP290):c.3810A>T (p.Leu1270=)
|
|
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
|
NM_025114.4(CEP290):c.3815G>A (p.Arg1272Gln)
|
|
|
|
NM_025114.4(CEP290):c.3818A>G (p.Gln1273Arg)
|
|
|
|
NM_025114.4(CEP290):c.3823A>G (p.Ser1275Gly)
|
|
|
|
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
|
NM_025114.4(CEP290):c.382G>C (p.Asp128His)
|
|
|
|
NM_025114.4(CEP290):c.382G>T (p.Asp128Tyr)
|
rs755112866
|
|
|
NM_025114.4(CEP290):c.3830C>T (p.Ala1277Val)
|
|
|
|
NM_025114.4(CEP290):c.3831T>A (p.Ala1277=)
|
|
|
|
NM_025114.4(CEP290):c.3831T>C (p.Ala1277=)
|
|
|
|
NM_025114.4(CEP290):c.3832T>C (p.Leu1278=)
|
|
|
|
NM_025114.4(CEP290):c.3838_3840dup (p.Leu1280_Ala1281insLeu)
|
|
|
|
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)
|
rs2036824785
|
|
|
NM_025114.4(CEP290):c.384_385del (p.Asp128fs)
|
rs1288619268
|
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
|
NM_025114.4(CEP290):c.3855G>A (p.Lys1285=)
|
rs766410040
|
|
|
NM_025114.4(CEP290):c.385A>G (p.Arg129Gly)
|
rs2138214415
|
|
|
NM_025114.4(CEP290):c.3860C>T (p.Ser1287Phe)
|
|
|
|
NM_025114.4(CEP290):c.3867A>G (p.Thr1289=)
|
rs1387223378
|
|
|
NM_025114.4(CEP290):c.3879A>G (p.Leu1293=)
|
rs2137272114
|
|
|
NM_025114.4(CEP290):c.3884dup (p.Asn1295fs)
|
|
|
|
NM_025114.4(CEP290):c.3885T>C (p.Asn1295=)
|
|
|
|
NM_025114.4(CEP290):c.3888C>T (p.Asp1296=)
|
rs2137271829
|
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
|
NM_025114.4(CEP290):c.389A>G (p.Glu130Gly)
|
|
|
|
NM_025114.4(CEP290):c.38T>A (p.Val13Asp)
|
|
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
|
NM_025114.4(CEP290):c.3909A>G (p.Glu1303=)
|
rs2137271264
|
|
|
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs)
|
|
|
|
NM_025114.4(CEP290):c.3915A>G (p.Lys1305=)
|
|
|
|
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
|
|
|
|
NM_025114.4(CEP290):c.3921T>C (p.Ser1307=)
|
rs369567962
|
|
|
NM_025114.4(CEP290):c.3924A>G (p.Gln1308=)
|
rs2036816675
|
|
|
NM_025114.4(CEP290):c.3925C>G (p.Gln1309Glu)
|
|
|
|
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)
|
rs2036816455
|
|
|
NM_025114.4(CEP290):c.3930A>G (p.Glu1310=)
|
rs775663498
|
|
|
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp)
|
|
|
|
NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter)
|
rs774705706
|
|
|
NM_025114.4(CEP290):c.3938A>T (p.Asn1313Ile)
|
|
|
|
NM_025114.4(CEP290):c.3945G>A (p.Glu1315=)
|
rs1367935035
|
|
|
NM_025114.4(CEP290):c.3948C>G (p.Asn1316Lys)
|
rs1361449401
|
|
|
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=)
|
rs1361449401
|
|
|
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu)
|
rs2137270029
|
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
|
NM_025114.4(CEP290):c.3951_3977del (p.Thr1318_Lys1326del)
|
|
|
|
NM_025114.4(CEP290):c.3954A>G (p.Thr1318=)
|
|
|
|
NM_025114.4(CEP290):c.3956del (p.Leu1319fs)
|
rs2137269723
|
|
|
NM_025114.4(CEP290):c.3967T>C (p.Leu1323=)
|
|
|
|
NM_025114.4(CEP290):c.3972A>G (p.Lys1324=)
|
rs2137269381
|
|
|
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val)
|
rs959651787
|
|
|
NM_025114.4(CEP290):c.3981C>G (p.Gly1327=)
|
|
|
|
NM_025114.4(CEP290):c.3987A>G (p.Glu1329=)
|
rs1224624148
|
|
|
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
|
|
|
|
NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter)
|
|
|
|
NM_025114.4(CEP290):c.4006A>G (p.Lys1336Glu)
|
rs2036809812
|
|
|
NM_025114.4(CEP290):c.4008G>A (p.Lys1336=)
|
|
|
|
NM_025114.4(CEP290):c.4020A>C (p.Gly1340=)
|
|
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
|
NM_025114.4(CEP290):c.4029+14C>T
|
|
|
|
NM_025114.4(CEP290):c.4029+17G>A
|
|
|
|
NM_025114.4(CEP290):c.4029+17G>C
|
|
|
|
NM_025114.4(CEP290):c.4029+17G>T
|
|
|
|
NM_025114.4(CEP290):c.4029+7A>G
|
|
|
|
NM_025114.4(CEP290):c.4030-11G>A
|
|
|
|
NM_025114.4(CEP290):c.4030-14A>T
|
|
|
|
NM_025114.4(CEP290):c.4030-2A>G
|
rs2036722229
|
|
|
NM_025114.4(CEP290):c.4030-5del
|
rs2137252186
|
|
|
NM_025114.4(CEP290):c.4035C>A (p.Ile1345=)
|
|
|
|
NM_025114.4(CEP290):c.4037A>G (p.Asn1346Ser)
|
|
|
|
NM_025114.4(CEP290):c.4038C>T (p.Asn1346=)
|
rs2137251909
|
|
|
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)
|
rs1339975972
|
|
|
NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter)
|
rs2137251821
|
|
|
NM_025114.4(CEP290):c.4043A>G (p.His1348Arg)
|
|
|
|
NM_025114.4(CEP290):c.4044T>C (p.His1348=)
|
rs771298371
|
|
|
NM_025114.4(CEP290):c.4050A>G (p.Lys1350=)
|
|
|
|
NM_025114.4(CEP290):c.4054GAA[1] (p.Glu1353del)
|
rs2036719008
|
|
|
NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter)
|
|
|
|
NM_025114.4(CEP290):c.405A>G (p.Glu135=)
|
|
|
|
NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter)
|
|
|
|
NM_025114.4(CEP290):c.4071A>G (p.Gln1357=)
|
|
|
|
NM_025114.4(CEP290):c.4074A>G (p.Glu1358=)
|
rs1031453040
|
|
|
NM_025114.4(CEP290):c.4076_4077del (p.Leu1359fs)
|
|
|
|
NM_025114.4(CEP290):c.4077T>C (p.Leu1359=)
|
rs2137250800
|
|
|
NM_025114.4(CEP290):c.4078_4081del (p.Leu1359_Lys1360insTer)
|
rs2036717675
|
|
|
NM_025114.4(CEP290):c.4087C>A (p.Arg1363=)
|
rs181121175
|
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
|
NM_025114.4(CEP290):c.4088G>T (p.Arg1363Leu)
|
|
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
|
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=)
|
rs1006145739
|
|
|
NM_025114.4(CEP290):c.4096_4099del (p.Val1366fs)
|
|
|
|
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly)
|
rs1270381017
|
|
|
NM_025114.4(CEP290):c.4098C>A (p.Val1366=)
|
|
|
|
NM_025114.4(CEP290):c.4098C>T (p.Val1366=)
|
|
|
|
NM_025114.4(CEP290):c.40G>A (p.Asp14Asn)
|
rs769179397
|
|
|
NM_025114.4(CEP290):c.4101G>A (p.Lys1367=)
|
|
|
|
NM_025114.4(CEP290):c.4102G>T (p.Asp1368Tyr)
|
rs184143186
|
|
|
NM_025114.4(CEP290):c.4110A>G (p.Glu1370=)
|
rs1190210677
|
|
|
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs)
|
rs62640582
|
|
|
NM_025114.4(CEP290):c.4115_4118del (p.Ile1372fs)
|
|
|
|
NM_025114.4(CEP290):c.4116A>C (p.Ile1372=)
|
rs2137249532
|
|
|
NM_025114.4(CEP290):c.4121del (p.Tyr1374fs)
|
|
|
|
NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter)
|
|
|
|
NM_025114.4(CEP290):c.412T>C (p.Leu138=)
|
|
|
|
NM_025114.4(CEP290):c.4133_4134del (p.Ile1378fs)
|
|
|
|
NM_025114.4(CEP290):c.4137T>C (p.Ile1379=)
|
|
|
|
NM_025114.4(CEP290):c.4142A>C (p.Glu1381Ala)
|
|
|
|
NM_025114.4(CEP290):c.4152T>A (p.Arg1384=)
|
rs2137248717
|
|
|
NM_025114.4(CEP290):c.4160_4164delinsATGAACGTACATAATTTCTGAATATGAA (p.Ser1387_Ser1388delinsAsnGluArgThrTer)
|
rs2137248487
|
|
|
NM_025114.4(CEP290):c.4167T>G (p.Leu1389=)
|
rs2137248362
|
|
|
NM_025114.4(CEP290):c.4175A>T (p.Glu1392Val)
|
rs2137248175
|
|
|
NM_025114.4(CEP290):c.4176A>G (p.Glu1392=)
|
rs2137248119
|
|
|
NM_025114.4(CEP290):c.4179T>C (p.Ile1393=)
|
|
|
|
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter)
|
rs1459653241
|
|
|
NM_025114.4(CEP290):c.4187A>G (p.Gln1396Arg)
|
|
|
|
NM_025114.4(CEP290):c.4194+10T>C
|
|
|
|
NM_025114.4(CEP290):c.4194+11A>G
|
|
|
|
NM_025114.4(CEP290):c.4194+11A>T
|
|
|
|
NM_025114.4(CEP290):c.4194+13A>G
|
|
|
|
NM_025114.4(CEP290):c.4194+16T>C
|
|
|
|
NM_025114.4(CEP290):c.4194+17A>T
|
|
|
|
NM_025114.4(CEP290):c.4194+19T>G
|
|
|
|
NM_025114.4(CEP290):c.4194+1G>C
|
|
|
|
NM_025114.4(CEP290):c.4194+2T>A
|
rs2137247685
|
|
|
NM_025114.4(CEP290):c.4194+5T>G
|
|
|
|
NM_025114.4(CEP290):c.4194+8T>G
|
|
|
|
NM_025114.4(CEP290):c.4194+8_4194+12del
|
rs1223134777
|
|
|
NM_025114.4(CEP290):c.4195-13G>A
|
|
|
|
NM_025114.4(CEP290):c.4195-18A>G
|
|
|
|
NM_025114.4(CEP290):c.4195-19C>A
|
|
|
|
NM_025114.4(CEP290):c.4195-1G>T
|
rs751807811
|
|
|
NM_025114.4(CEP290):c.4195-3del
|
|
|
|
NM_025114.4(CEP290):c.4195-3dup
|
|
|
|
NM_025114.4(CEP290):c.4195-5T>C
|
rs1014066992
|
|
|
NM_025114.4(CEP290):c.4195-8T>C
|
rs2137221868
|
|
|
NM_025114.4(CEP290):c.4200T>C (p.His1400=)
|
rs2137221395
|
|
|
NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter)
|
|
|
|
NM_025114.4(CEP290):c.420del (p.Glu141fs)
|
|
|
|
NM_025114.4(CEP290):c.4215G>A (p.Met1405Ile)
|
rs797045457
|
|
|
NM_025114.4(CEP290):c.4224T>C (p.Asp1408=)
|
rs2137220817
|
|
|
NM_025114.4(CEP290):c.4239C>A (p.Asp1413Glu)
|
|
|
|
NM_025114.4(CEP290):c.4239C>T (p.Asp1413=)
|
|
|
|
NM_025114.4(CEP290):c.4240C>T (p.Leu1414=)
|
|
|
|
NM_025114.4(CEP290):c.4254A>G (p.Leu1418=)
|
|
|
|
NM_025114.4(CEP290):c.4263T>C (p.Phe1421=)
|
rs2137219486
|
|
|
NM_025114.4(CEP290):c.4263del (p.Phe1421fs)
|
rs2137219551
|
|
|
NM_025114.4(CEP290):c.4267C>T (p.Arg1423Cys)
|
|
|
|
NM_025114.4(CEP290):c.4276A>C (p.Asn1426His)
|
|
|
|
NM_025114.4(CEP290):c.4276_4277del (p.Gln1425_Asn1426insTer)
|
rs863224523
|
|
|
NM_025114.4(CEP290):c.4285C>T (p.Leu1429=)
|
rs2137218765
|
|
|
NM_025114.4(CEP290):c.4286T>A (p.Leu1429Gln)
|
rs2137218717
|
|
|
NM_025114.4(CEP290):c.4296A>C (p.Ala1432=)
|
|
|
|
NM_025114.4(CEP290):c.4296A>G (p.Ala1432=)
|
rs2137218338
|
|
|
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg)
|
rs1157241942
|
|
|
NM_025114.4(CEP290):c.4302+10A>G
|
|
|
|
NM_025114.4(CEP290):c.4302+12T>G
|
|
|
|
NM_025114.4(CEP290):c.4302+13A>G
|
|
|
|
NM_025114.4(CEP290):c.4302+19G>A
|
|
|
|
NM_025114.4(CEP290):c.4302+8T>C
|
|
|
|
NM_025114.4(CEP290):c.4302+9G>C
|
rs2137217907
|
|
|
NM_025114.4(CEP290):c.4303-12A>G
|
|
|
|
NM_025114.4(CEP290):c.4303-16T>C
|
|
|
|
NM_025114.4(CEP290):c.4303-18C>A
|
|
|
|
NM_025114.4(CEP290):c.4303-18C>T
|
|
|
|
NM_025114.4(CEP290):c.4303-6T>C
|
|
|
|
NM_025114.4(CEP290):c.4303-7T>C
|
|
|
|
NM_025114.4(CEP290):c.4305T>C (p.Phe1435=)
|
rs138095601
|
|
|
NM_025114.4(CEP290):c.4322C>G (p.Ser1441Ter)
|
|
|
|
NM_025114.4(CEP290):c.4326C>T (p.Ile1442=)
|
|
|
|
NM_025114.4(CEP290):c.4338T>C (p.Ser1446=)
|
|
|
|
NM_025114.4(CEP290):c.434A>G (p.Asn145Ser)
|
|
|
|
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)
|
|
|
|
NM_025114.4(CEP290):c.4358T>C (p.Leu1453Pro)
|
|
|
|
NM_025114.4(CEP290):c.435T>C (p.Asn145=)
|
rs2040367783
|
|
|
NM_025114.4(CEP290):c.4365C>A (p.Ile1455=)
|
rs552731286
|
|
|
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr)
|
rs375111436
|
|
|
NM_025114.4(CEP290):c.4371A>G (p.Leu1457=)
|
rs2137212322
|
|
|
NM_025114.4(CEP290):c.4373G>C (p.Arg1458Thr)
|
|
|
|
NM_025114.4(CEP290):c.4380T>A (p.Ile1460=)
|
rs1014763442
|
|
|
NM_025114.4(CEP290):c.4380T>C (p.Ile1460=)
|
|
|
|
NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter)
|
|
|
|
NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
|
rs863225182
|
|
|
NM_025114.4(CEP290):c.438G>A (p.Glu146=)
|
rs2138213152
|
|
|
NM_025114.4(CEP290):c.4402C>T (p.Leu1468=)
|
rs1565838540
|
|
|
NM_025114.4(CEP290):c.4407A>G (p.Glu1469=)
|
rs2137211343
|
|
|
NM_025114.4(CEP290):c.441+11T>C
|
|
|
|
NM_025114.4(CEP290):c.441+15T>G
|
|
|
|
NM_025114.4(CEP290):c.441+18del
|
|
|
|
NM_025114.4(CEP290):c.441+18dup
|
|
|
|
NM_025114.4(CEP290):c.441+1G>A
|
|
|
|
NM_025114.4(CEP290):c.441+1G>C
|
|
|
|
NM_025114.4(CEP290):c.4415C>A (p.Ala1472Glu)
|
|
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
|
NM_025114.4(CEP290):c.442-14_442-11del
|
|
|
|
NM_025114.4(CEP290):c.442-17T>A
|
rs2040048473
|
|
|
NM_025114.4(CEP290):c.442-18T>C
|
|
|
|
NM_025114.4(CEP290):c.442-19T>C
|
rs113132803
|
|
|
NM_025114.4(CEP290):c.442-19_442-18insA
|
|
|
|
NM_025114.4(CEP290):c.442-1G>A
|
|
|
|
NM_025114.4(CEP290):c.442-20T>A
|
|
|
|
NM_025114.4(CEP290):c.442-22_442-21dup
|
rs199511358
|
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
|
NM_025114.4(CEP290):c.442-23_442-20del
|
rs746139755
|
|
|
NM_025114.4(CEP290):c.442-7A>G
|
rs1252546173
|
|
|
NM_025114.4(CEP290):c.442-8T>G
|
|
|
|
NM_025114.4(CEP290):c.4428A>G (p.Ser1476=)
|
rs1206552589
|
|
|
NM_025114.4(CEP290):c.4429C>T (p.Leu1477=)
|
rs2137210634
|
|
|
NM_025114.4(CEP290):c.4437+10A>C
|
|
|
|
NM_025114.4(CEP290):c.4437+11G>T
|
|
|
|
NM_025114.4(CEP290):c.4437+17G>A
|
|
|
|
NM_025114.4(CEP290):c.4437+7A>T
|
rs2137210220
|
|
|
NM_025114.4(CEP290):c.4438-10A>C
|
|
|
|
NM_025114.4(CEP290):c.4438-12T>C
|
|
|
|
NM_025114.4(CEP290):c.4438-13_4438-9del
|
|
|
|
NM_025114.4(CEP290):c.4438-17T>C
|
|
|
|
NM_025114.4(CEP290):c.4438-4G>T
|
rs2036460485
|
|
|
NM_025114.4(CEP290):c.4438-8_4438-7del
|
rs2137190016
|
|
|
NM_025114.4(CEP290):c.4443A>G (p.Leu1481=)
|
rs2036459644
|
|
|
NM_025114.4(CEP290):c.4446A>G (p.Lys1482=)
|
|
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
|
NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter)
|
|
|
|
NM_025114.4(CEP290):c.4454A>C (p.Glu1485Ala)
|
|
|
|
NM_025114.4(CEP290):c.4473A>G (p.Ala1491=)
|
|
|
|
NM_025114.4(CEP290):c.447T>A (p.Ala149=)
|
rs2138114644
|
|
|
NM_025114.4(CEP290):c.447T>C (p.Ala149=)
|
|
|
|
NM_025114.4(CEP290):c.447T>G (p.Ala149=)
|
|
|
|
NM_025114.4(CEP290):c.4482T>C (p.Asn1494=)
|
rs2137188752
|
|
|
NM_025114.4(CEP290):c.4486C>T (p.Leu1496=)
|
rs1026690396
|
|
|
NM_025114.4(CEP290):c.4488G>A (p.Leu1496=)
|
rs2137188485
|
|
|
NM_025114.4(CEP290):c.448C>T (p.Leu150Phe)
|
|
|
|
NM_025114.4(CEP290):c.4496A>T (p.Asp1499Val)
|
rs2036455482
|
|
|
NM_025114.4(CEP290):c.4506C>T (p.Ile1502=)
|
rs1592837830
|
|
|
NM_025114.4(CEP290):c.4507A>C (p.Asn1503His)
|
|
|
|
NM_025114.4(CEP290):c.4512A>G (p.Glu1504=)
|
rs1177088224
|
|
|
NM_025114.4(CEP290):c.4513C>T (p.Leu1505=)
|
rs1481340734
|
|
|
NM_025114.4(CEP290):c.4515G>A (p.Leu1505=)
|
|
|
|
NM_025114.4(CEP290):c.4517G>C (p.Arg1506Thr)
|
rs1266234548
|
|
|
NM_025114.4(CEP290):c.4535del (p.Thr1512fs)
|
|
|
|
NM_025114.4(CEP290):c.4539A>C (p.Ala1513=)
|
rs750049263
|
|
|
NM_025114.4(CEP290):c.4539A>G (p.Ala1513=)
|
|
|
|
NM_025114.4(CEP290):c.4542A>G (p.Glu1514=)
|
rs765011862
|
|
|
NM_025114.4(CEP290):c.4547A>G (p.Glu1516Gly)
|
rs367941106
|
|
|
NM_025114.4(CEP290):c.4548A>G (p.Glu1516=)
|
rs2137186609
|
|
|
NM_025114.4(CEP290):c.454A>G (p.Asn152Asp)
|
|
|
|
NM_025114.4(CEP290):c.4551G>A (p.Lys1517=)
|
|
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
|
NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter)
|
|
|
|
NM_025114.4(CEP290):c.4562dup (p.Leu1522fs)
|
|
|
|
NM_025114.4(CEP290):c.4566A>C (p.Leu1522=)
|
rs763991371
|
|
|
NM_025114.4(CEP290):c.4569C>T (p.Gly1523=)
|
|
|
|
NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter)
|
|
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
|
NM_025114.4(CEP290):c.457G>T (p.Glu153Ter)
|
|
|
|
NM_025114.4(CEP290):c.4586C>G (p.Pro1529Arg)
|
rs759438587
|
|
|
NM_025114.4(CEP290):c.4590A>G (p.Lys1530=)
|
|
|
|
NM_025114.4(CEP290):c.4599C>T (p.His1533=)
|
rs932264519
|
|
|
NM_025114.4(CEP290):c.45A>G (p.Pro15=)
|
rs1383191175
|
|
|
NM_025114.4(CEP290):c.4600A>C (p.Thr1534Pro)
|
rs2036443574
|
|
|
NM_025114.4(CEP290):c.4603T>C (p.Leu1535=)
|
|
|
|
NM_025114.4(CEP290):c.4604T>C (p.Leu1535Ser)
|
rs2137184439
|
|
|
NM_025114.4(CEP290):c.4614T>G (p.Ala1538=)
|
|
|
|
NM_025114.4(CEP290):c.4614_4615delinsCT (p.His1539Tyr)
|
|
|
|
NM_025114.4(CEP290):c.4619A>C (p.Gln1540Pro)
|
|
|
|
NM_025114.4(CEP290):c.4619A>G (p.Gln1540Arg)
|
|
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
|
NM_025114.4(CEP290):c.4628C>T (p.Ala1543Val)
|
rs2036441054
|
|
|
NM_025114.4(CEP290):c.4629A>C (p.Ala1543=)
|
rs2137183853
|
|
|
NM_025114.4(CEP290):c.462G>A (p.Glu154=)
|
|
|
|
NM_025114.4(CEP290):c.4634_4637dup (p.Gln1546fs)
|
|
|
|
NM_025114.4(CEP290):c.4638A>G (p.Gln1546=)
|
|
|
|
NM_025114.4(CEP290):c.4638A>T (p.Gln1546His)
|
|
|
|
NM_025114.4(CEP290):c.463G>A (p.Ala155Thr)
|
rs2138114070
|
|
|
NM_025114.4(CEP290):c.4644G>A (p.Arg1548=)
|
rs2137183393
|
|
|
NM_025114.4(CEP290):c.4648_4649insCA (p.Asn1550fs)
|
rs2137183334
|
|
|
NM_025114.4(CEP290):c.4650T>C (p.Asn1550=)
|
rs2137183194
|
|
|
NM_025114.4(CEP290):c.4651C>A (p.Gln1551Lys)
|
|
|
|
NM_025114.4(CEP290):c.4653A>G (p.Gln1551=)
|
rs2137183063
|
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
|
NM_025114.4(CEP290):c.4656del (p.Glu1553fs)
|
rs62640572
|
|
|
NM_025114.4(CEP290):c.4674G>T (p.Lys1558Asn)
|
|
|
|
NM_025114.4(CEP290):c.4676A>G (p.Tyr1559Cys)
|
|
|
|
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=)
|
rs2137182509
|
|
|
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)
|
rs2137182509
|
|
|
NM_025114.4(CEP290):c.4680A>G (p.Gln1560=)
|
|
|
|
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)
|
rs371157150
|
|
|
NM_025114.4(CEP290):c.4682G>C (p.Arg1561Pro)
|
|
|
|
NM_025114.4(CEP290):c.4683T>A (p.Arg1561=)
|
rs2137182194
|
|
|
NM_025114.4(CEP290):c.4683T>C (p.Arg1561=)
|
rs2137182194
|
|
|
NM_025114.4(CEP290):c.468A>G (p.Glu156=)
|
rs967600444
|
|
|
NM_025114.4(CEP290):c.4692A>G (p.Glu1564=)
|
rs2137181983
|
|
|
NM_025114.4(CEP290):c.4693A>G (p.Lys1565Glu)
|
|
|
|
NM_025114.4(CEP290):c.46G>C (p.Asp16His)
|
rs2040641439
|
|
|
NM_025114.4(CEP290):c.4700G>C (p.Arg1567Thr)
|
|
|
|
NM_025114.4(CEP290):c.4701A>G (p.Arg1567=)
|
rs2137181574
|
|
|
NM_025114.4(CEP290):c.4704+11A>T
|
|
|
|
NM_025114.4(CEP290):c.4704+12T>C
|
rs2137181292
|
|
|
NM_025114.4(CEP290):c.4704+13_4704+17del
|
|
|
|
NM_025114.4(CEP290):c.4704+19A>C
|
|
|
|
NM_025114.4(CEP290):c.4704+1G>A
|
|
|
|
NM_025114.4(CEP290):c.4704+3A>G
|
|
|
|
NM_025114.4(CEP290):c.4704+7T>C
|
|
|
|
NM_025114.4(CEP290):c.4705-12T>C
|
|
|
|
NM_025114.4(CEP290):c.4705-15T>C
|
|
|
|
NM_025114.4(CEP290):c.4705-17G>A
|
|
|
|
NM_025114.4(CEP290):c.4705-19T>G
|
|
|
|
NM_025114.4(CEP290):c.4705-2A>C
|
rs2137170380
|
|
|
NM_025114.4(CEP290):c.4705-7A>G
|
rs1367159797
|
|
|
NM_025114.4(CEP290):c.4705G>A (p.Glu1569Lys)
|
rs2137170285
|
|
|
NM_025114.4(CEP290):c.4705G>T (p.Glu1569Ter)
|
rs2137170285
|
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
|
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs)
|
|
|
|
NM_025114.4(CEP290):c.4717A>T (p.Ile1573Phe)
|
|
|
|
NM_025114.4(CEP290):c.471T>C (p.Asn157=)
|
|
|
|
NM_025114.4(CEP290):c.4726A>G (p.Lys1576Glu)
|
rs1203769698
|
|
|
NM_025114.4(CEP290):c.4737A>G (p.Glu1579=)
|
rs2137169332
|
|
|
NM_025114.4(CEP290):c.4737del (p.Asp1580fs)
|
rs1304430926
|
|
|
NM_025114.4(CEP290):c.4745A>G (p.His1582Arg)
|
|
|
|
NM_025114.4(CEP290):c.4758C>T (p.His1586=)
|
rs896218309
|
|
|
NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter)
|
rs760653238
|
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
|
NM_025114.4(CEP290):c.4785A>C (p.Ser1595=)
|
|
|
|
NM_025114.4(CEP290):c.4785A>G (p.Ser1595=)
|
|
|
|
NM_025114.4(CEP290):c.4788A>G (p.Leu1596=)
|
rs775682517
|
|
|
NM_025114.4(CEP290):c.4790A>G (p.Asn1597Ser)
|
rs1352598713
|
|
|
NM_025114.4(CEP290):c.4794A>G (p.Lys1598=)
|
rs760100036
|
|
|
NM_025114.4(CEP290):c.4795T>C (p.Phe1599Leu)
|
|
|
|
NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter)
|
|
|
|
NM_025114.4(CEP290):c.4806G>C (p.Thr1602=)
|
|
|
|
NM_025114.4(CEP290):c.4806G>T (p.Thr1602=)
|
rs201614215
|
|
|
NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs)
|
rs2036372197
|
|
|
NM_025114.4(CEP290):c.4812+15A>T
|
rs1011820485
|
|
|
NM_025114.4(CEP290):c.4812+18_4812+19del
|
rs1362916745
|
|
|
NM_025114.4(CEP290):c.4812+1G>A
|
rs2137167420
|
|
|
NM_025114.4(CEP290):c.4812+1G>T
|
|
|
|
NM_025114.4(CEP290):c.4812G>T (p.Trp1604Cys)
|
|
|
|
NM_025114.4(CEP290):c.4813-10T>C
|
|
|
|
NM_025114.4(CEP290):c.4813-11A>G
|
|
|
|
NM_025114.4(CEP290):c.4813-4A>G
|
rs2036324053
|
|
|
NM_025114.4(CEP290):c.4813-5T>C
|
rs2137156921
|
|
|
NM_025114.4(CEP290):c.4813-7T>A
|
rs2137156966
|
|
|
NM_025114.4(CEP290):c.4813-9A>G
|
|
|
|
NM_025114.4(CEP290):c.4815T>C (p.Asp1605=)
|
rs2137156688
|
|
|
NM_025114.4(CEP290):c.4819A>T (p.Met1607Leu)
|
|
|
|
NM_025114.4(CEP290):c.4820dup (p.Met1607fs)
|
|
|
|
NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter)
|
rs2137156392
|
|
|
NM_025114.4(CEP290):c.4825_4826del (p.Gln1609fs)
|
|
|
|
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu)
|
|
|
|
NM_025114.4(CEP290):c.4833C>T (p.Pro1611=)
|
rs763271689
|
|
|
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs)
|
rs1207944612
|
|
|
NM_025114.4(CEP290):c.483del (p.Lys161fs)
|
|
|
|
NM_025114.4(CEP290):c.4840G>T (p.Val1614Phe)
|
|
|
|
NM_025114.4(CEP290):c.4844C>G (p.Pro1615Arg)
|
|
|
|
NM_025114.4(CEP290):c.4848C>A (p.Thr1616=)
|
|
|
|
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
|
|
|
|
NM_025114.4(CEP290):c.4857T>C (p.His1619=)
|
|
|
|
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
|
rs2036318355
|
|
|
NM_025114.4(CEP290):c.4867C>T (p.Leu1623=)
|
|
|
|
NM_025114.4(CEP290):c.4877T>C (p.Met1626Thr)
|
rs1413188289
|
|
|
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
|
|
|
|
NM_025114.4(CEP290):c.4879dup (p.Glu1627fs)
|
|
|
|
NM_025114.4(CEP290):c.4882C>A (p.Gln1628Lys)
|
|
|
|
NM_025114.4(CEP290):c.4887A>G (p.Thr1629=)
|
rs1179886652
|
|
|
NM_025114.4(CEP290):c.4888G>A (p.Val1630Ile)
|
rs2036315177
|
|
|
NM_025114.4(CEP290):c.4894G>A (p.Glu1632Lys)
|
rs916470951
|
|
|
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
|
|
|
|
NM_025114.4(CEP290):c.4899A>G (p.Gln1633=)
|
|
|
|
NM_025114.4(CEP290):c.4908T>G (p.Ser1636=)
|
|
|
|
NM_025114.4(CEP290):c.4909_4910del (p.Leu1637fs)
|
|
|
|
NM_025114.4(CEP290):c.4910T>C (p.Leu1637Pro)
|
|
|
|
NM_025114.4(CEP290):c.4914C>T (p.Ser1638=)
|
rs2137153390
|
|
|
NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter)
|
|
|
|
NM_025114.4(CEP290):c.4923G>T (p.Leu1641Phe)
|
|
|
|
NM_025114.4(CEP290):c.4926C>A (p.Val1642=)
|
|
|
|
NM_025114.4(CEP290):c.4926C>G (p.Val1642=)
|
|
|
|
NM_025114.4(CEP290):c.4931T>A (p.Leu1644Gln)
|
rs763470977
|
|
|
NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter)
|
|
|
|
NM_025114.4(CEP290):c.4943_4944insTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATC (p.Gln1649_Asp1650insTerGln)
|
|
|
|
NM_025114.4(CEP290):c.4944A>G (p.Ser1648=)
|
|
|
|
NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter)
|
rs2137152484
|
|
|
NM_025114.4(CEP290):c.4947A>G (p.Gln1649=)
|
rs2137152427
|
|
|
NM_025114.4(CEP290):c.495+16A>G
|
|
|
|
NM_025114.4(CEP290):c.495+7A>T
|
rs2138113223
|
|
|
NM_025114.4(CEP290):c.495+8dup
|
|
|
|
NM_025114.4(CEP290):c.495+9T>A
|
|
|
|
NM_025114.4(CEP290):c.495+9T>G
|
rs2138113170
|
|
|
NM_025114.4(CEP290):c.4950T>C (p.Asp1650=)
|
|
|
|
NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter)
|
|
|
|
NM_025114.4(CEP290):c.496-12C>T
|
rs2138102416
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
|
NM_025114.4(CEP290):c.4963del (p.Arg1655fs)
|
|
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
|
NM_025114.4(CEP290):c.4977A>G (p.Glu1659=)
|
|
|
|
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer)
|
rs879447211
|
|
|
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs)
|
rs2036306894
|
|
|
NM_025114.4(CEP290):c.4986A>G (p.Val1662=)
|
|
|
|
NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)
|
|
|
|
NM_025114.4(CEP290):c.4995T>G (p.Phe1665Leu)
|
|
|
|
NM_025114.4(CEP290):c.4997A>G (p.Glu1666Gly)
|
rs566018288
|
|
|
NM_025114.4(CEP290):c.5002dup (p.Ile1668fs)
|
rs2137151163
|
|
|
NM_025114.4(CEP290):c.5009_5012del (p.Leu1670fs)
|
rs2137150860
|
|
|
NM_025114.4(CEP290):c.5010A>G (p.Leu1670=)
|
|
|
|
NM_025114.4(CEP290):c.5012+13A>G
|
|
|
|
NM_025114.4(CEP290):c.5012+19T>C
|
|
|
|
NM_025114.4(CEP290):c.5012+20T>A
|
|
|
|
NM_025114.4(CEP290):c.5012+20T>C
|
|
|
|
NM_025114.4(CEP290):c.5012+5G>A
|
|
|
|
NM_025114.4(CEP290):c.5012+7C>A
|
|
|
|
NM_025114.4(CEP290):c.5012+7_5012+8del
|
rs2137150584
|
|
|
NM_025114.4(CEP290):c.5013-17_5013-16del
|
rs774225453
|
|
|
NM_025114.4(CEP290):c.5013-19A>G
|
|
|
|
NM_025114.4(CEP290):c.5013-1G>A
|
|
|
|
NM_025114.4(CEP290):c.5013-20C>T
|
rs1299195353
|
|
|
NM_025114.4(CEP290):c.5013-30CA[5]
|
rs759447937
|
|
|
NM_025114.4(CEP290):c.5013-30CA[7]
|
|
|
|
NM_025114.4(CEP290):c.5013-6C>T
|
rs2137107114
|
|
|
NM_025114.4(CEP290):c.5013-7A>G
|
rs762217156
|
|
|
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His)
|
rs1173154577
|
|
|
NM_025114.4(CEP290):c.5027A>T (p.His1676Leu)
|
|
|
|
NM_025114.4(CEP290):c.5029_5030del (p.Glu1677fs)
|
|
|
|
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys)
|
rs760856790
|
|
|
NM_025114.4(CEP290):c.5032G>C (p.Asp1678His)
|
|
|
|
NM_025114.4(CEP290):c.5033A>T (p.Asp1678Val)
|
rs1174731379
|
|
|
NM_025114.4(CEP290):c.5040G>A (p.Val1680=)
|
rs2137106401
|
|
|
NM_025114.4(CEP290):c.504T>C (p.Arg168=)
|
rs2138101728
|
|
|
NM_025114.4(CEP290):c.5055G>T (p.Ala1685=)
|
|
|
|
NM_025114.4(CEP290):c.5056G>A (p.Glu1686Lys)
|
|
|
|
NM_025114.4(CEP290):c.5057A>G (p.Glu1686Gly)
|
|
|
|
NM_025114.4(CEP290):c.5067T>C (p.Asp1689=)
|
rs2137105805
|
|
|
NM_025114.4(CEP290):c.5070A>C (p.Leu1690Phe)
|
|
|
|
NM_025114.4(CEP290):c.5075A>G (p.Tyr1692Cys)
|
rs1565827486
|
|
|
NM_025114.4(CEP290):c.507A>G (p.Leu169=)
|
rs2138101663
|
|
|
NM_025114.4(CEP290):c.5083G>T (p.Asp1695Tyr)
|
rs1209477107
|
|
|
NM_025114.4(CEP290):c.5086C>G (p.Gln1696Glu)
|
rs2036106218
|
|
|
NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter)
|
|
|
|
NM_025114.4(CEP290):c.5091A>G (p.Ser1697=)
|
|
|
|
NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)
|
|
|
|
NM_025114.4(CEP290):c.5097G>A (p.Lys1699=)
|
|
|
|
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
|
|
|
|
NM_025114.4(CEP290):c.5100G>A (p.Glu1700=)
|
rs2137104806
|
|
|
NM_025114.4(CEP290):c.5101T>C (p.Ser1701Pro)
|
|
|
|
NM_025114.4(CEP290):c.5103A>G (p.Ser1701=)
|
rs2137104709
|
|
|
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
|
rs766259648
|
|
|
NM_025114.4(CEP290):c.5109T>C (p.Cys1703=)
|
|
|
|
NM_025114.4(CEP290):c.5121A>G (p.Glu1707=)
|
rs2137104323
|
|
|
NM_025114.4(CEP290):c.5127_5143del (p.Ala1710fs)
|
rs2137103699
|
|
|
NM_025114.4(CEP290):c.5130T>C (p.Ala1710=)
|
|
|
|
NM_025114.4(CEP290):c.5130del (p.Gln1711fs)
|
|
|
|
NM_025114.4(CEP290):c.5134A>G (p.Lys1712Glu)
|
rs1241267572
|
|
|
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs)
|
rs995093343
|
|
|
NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter)
|
|
|
|
NM_025114.4(CEP290):c.5143A>G (p.Asn1715Asp)
|
rs1565827241
|
|
|
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
|
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
|
|
|
|
NM_025114.4(CEP290):c.5157A>G (p.Pro1719=)
|
rs1215659876
|
|
|
NM_025114.4(CEP290):c.5158A>G (p.Thr1720Ala)
|
rs1555205391
|
|
|
NM_025114.4(CEP290):c.5159C>G (p.Thr1720Arg)
|
|
|
|
NM_025114.4(CEP290):c.516+10T>G
|
rs2138101103
|
|
|
NM_025114.4(CEP290):c.516+12A>C
|
|
|
|
NM_025114.4(CEP290):c.516+13G>A
|
|
|
|
NM_025114.4(CEP290):c.516+15G>A
|
|
|
|
NM_025114.4(CEP290):c.516+19T>A
|
|
|
|
NM_025114.4(CEP290):c.516+1G>A
|
|
|
|
NM_025114.4(CEP290):c.516+9T>C
|
rs771222198
|
|
|
NM_025114.4(CEP290):c.5166A>G (p.Thr1722=)
|
rs970862392
|
|
|
NM_025114.4(CEP290):c.517-18G>T
|
|
|
|
NM_025114.4(CEP290):c.517-5T>G
|
|
|
|
NM_025114.4(CEP290):c.517-6C>T
|
|
|
|
NM_025114.4(CEP290):c.5178A>G (p.Leu1726=)
|
rs2137102455
|
|
|
NM_025114.4(CEP290):c.5181A>G (p.Val1727=)
|
rs1002651698
|
|
|
NM_025114.4(CEP290):c.5187G>A (p.Arg1729=)
|
|
|
|
NM_025114.4(CEP290):c.5190A>G (p.Leu1730=)
|
rs1203367950
|
|
|
NM_025114.4(CEP290):c.5193G>A (p.Lys1731=)
|
rs2137101998
|
|
|
NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter)
|
rs1367899236
|
|
|
NM_025114.4(CEP290):c.519T>C (p.Asn173=)
|
|
|
|
NM_025114.4(CEP290):c.51C>T (p.Asp17=)
|
rs2138305629
|
|
|
NM_025114.4(CEP290):c.5203G>A (p.Ala1735Thr)
|
rs2036093152
|
|
|
NM_025114.4(CEP290):c.5204C>T (p.Ala1735Val)
|
rs1311947993
|
|
|
NM_025114.4(CEP290):c.5205C>T (p.Ala1735=)
|
|
|
|
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter)
|
rs1555205328
|
|
|
NM_025114.4(CEP290):c.5217del (p.Lys1739fs)
|
rs2137101209
|
|
|
NM_025114.4(CEP290):c.5218_5226del (p.Gln1740_Lys1742del)
|
|
|
|
NM_025114.4(CEP290):c.5219A>C (p.Gln1740Pro)
|
|
|
|
NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter)
|
|
|
|
NM_025114.4(CEP290):c.5225A>G (p.Lys1742Arg)
|
|
|
|
NM_025114.4(CEP290):c.5226+11_5226+13del
|
|
|
|
NM_025114.4(CEP290):c.5226+12_5226+16del
|
|
|
|
NM_025114.4(CEP290):c.5226+18A>C
|
|
|
|
NM_025114.4(CEP290):c.5226+5_5226+8del
|
rs1353301232
|
|
|
NM_025114.4(CEP290):c.5226+7A>G
|
rs2036089729
|
|
|
NM_025114.4(CEP290):c.5226+7_5226+8insGAC
|
rs2036089498
|
|
|
NM_025114.4(CEP290):c.5226+9C>G
|
rs2137100623
|
|
|
NM_025114.4(CEP290):c.5226+9C>T
|
|
|
|
NM_025114.4(CEP290):c.5227-13G>C
|
|
|
|
NM_025114.4(CEP290):c.5227-14del
|
rs747878752
|
|
|
NM_025114.4(CEP290):c.5227-15T>G
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NM_025114.4(CEP290):c.5227-23dup
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rs747878752
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NM_025114.4(CEP290):c.5227-2A>G
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NM_025114.4(CEP290):c.5227-4T>G
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rs2137083466
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NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)
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rs951910051
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NM_025114.4(CEP290):c.5230C>T (p.Leu1744Phe)
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NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs)
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rs775969711
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NM_025114.4(CEP290):c.5236C>A (p.Arg1746=)
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rs774427529
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NM_025114.4(CEP290):c.5241A>C (p.Ala1747=)
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NM_025114.4(CEP290):c.5250A>G (p.Glu1750=)
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NM_025114.4(CEP290):c.5254C>A (p.Arg1752=)
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rs748471942
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NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
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rs748471942
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NM_025114.4(CEP290):c.5259A>G (p.Ala1753=)
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NM_025114.4(CEP290):c.525A>G (p.Gln175=)
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rs2039993836
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NM_025114.4(CEP290):c.5263A>G (p.Met1755Val)
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NM_025114.4(CEP290):c.5268A>G (p.Thr1756=)
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NM_025114.4(CEP290):c.5277T>C (p.Ala1759=)
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NM_025114.4(CEP290):c.5277dup (p.Glu1760Ter)
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NM_025114.4(CEP290):c.5282A>G (p.Glu1761Gly)
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NM_025114.4(CEP290):c.5287A>C (p.Ile1763Leu)
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NM_025114.4(CEP290):c.5298A>C (p.Ala1766=)
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rs2137081487
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NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala)
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NM_025114.4(CEP290):c.52C>T (p.Leu18=)
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rs2138305571
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NM_025114.4(CEP290):c.5301T>G (p.Thr1767=)
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rs891496300
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NM_025114.4(CEP290):c.530G>T (p.Cys177Phe)
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NM_025114.4(CEP290):c.5313G>A (p.Glu1771=)
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rs2137081165
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NM_025114.4(CEP290):c.5319T>C (p.His1773=)
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NM_025114.4(CEP290):c.5324A>G (p.Asn1775Ser)
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rs527586777
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NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)
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rs774410421
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NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)
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rs2039993548
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NM_025114.4(CEP290):c.5340T>C (p.Val1780=)
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rs2137080571
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NM_025114.4(CEP290):c.5341G>A (p.Asp1781Asn)
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NM_025114.4(CEP290):c.5343T>G (p.Asp1781Glu)
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NM_025114.4(CEP290):c.5345G>A (p.Arg1782Gln)
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NM_025114.4(CEP290):c.5346A>G (p.Arg1782=)
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NM_025114.4(CEP290):c.5348_5351del (p.His1783fs)
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rs2137080156
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NM_025114.4(CEP290):c.534G>A (p.Gln178=)
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NM_025114.4(CEP290):c.5364+14C>A
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NM_025114.4(CEP290):c.5364+14C>T
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NM_025114.4(CEP290):c.5364+15G>A
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NM_025114.4(CEP290):c.5364+17G>A
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NM_025114.4(CEP290):c.5364+3G>A
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NM_025114.4(CEP290):c.5364+8T>A
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rs2137079741
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NM_025114.4(CEP290):c.5364+8T>G
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NM_025114.4(CEP290):c.5364+9C>T
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rs2137079700
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NM_025114.4(CEP290):c.5365-12T>G
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NM_025114.4(CEP290):c.5365-17dup
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NM_025114.4(CEP290):c.5365-8C>T
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NM_025114.4(CEP290):c.5365-9T>C
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NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile)
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rs2035901966
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NM_025114.4(CEP290):c.5367A>T (p.Thr1789=)
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NM_025114.4(CEP290):c.5387A>C (p.Glu1796Ala)
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rs2137060627
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NM_025114.4(CEP290):c.5391T>C (p.Asn1797=)
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rs1034544936
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NM_025114.4(CEP290):c.5392C>G (p.Leu1798Val)
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NM_025114.4(CEP290):c.5409A>G (p.Glu1803=)
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NM_025114.4(CEP290):c.5415del (p.Thr1807fs)
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rs1592808035
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NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter)
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NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
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NM_025114.4(CEP290):c.5421A>C (p.Thr1807=)
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NM_025114.4(CEP290):c.5423_5426del (p.Ser1808fs)
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NM_025114.4(CEP290):c.5428A>G (p.Asn1810Asp)
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rs1351470304
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NM_025114.4(CEP290):c.5432G>A (p.Arg1811Lys)
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NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
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rs757609119
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NM_025114.4(CEP290):c.5439C>T (p.Asn1813=)
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rs2137059444
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NM_025114.4(CEP290):c.5445A>C (p.Leu1815=)
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rs1401075815
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NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)
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rs749331348
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NM_025114.4(CEP290):c.5455T>C (p.Leu1819=)
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NM_025114.4(CEP290):c.5460T>C (p.Asn1820=)
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NM_025114.4(CEP290):c.5468A>G (p.Asn1823Ser)
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NM_025114.4(CEP290):c.5468_5471del (p.Asn1823fs)
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NM_025114.4(CEP290):c.5483A>G (p.Lys1828Arg)
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NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
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rs386834158
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NM_025114.4(CEP290):c.5499T>C (p.Tyr1833=)
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NM_025114.4(CEP290):c.54G>A (p.Leu18=)
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rs886049885
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NM_025114.4(CEP290):c.54G>C (p.Leu18=)
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rs886049885
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NM_025114.4(CEP290):c.5507T>C (p.Ile1836Thr)
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NM_025114.4(CEP290):c.5508A>T (p.Ile1836=)
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NM_025114.4(CEP290):c.5509_5512del (p.Leu1837fs)
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NM_025114.4(CEP290):c.5512dup (p.Arg1838fs)
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rs1565822519
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NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
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rs281865187
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NM_025114.4(CEP290):c.5517G>A (p.Glu1839=)
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NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val)
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NM_025114.4(CEP290):c.5529T>A (p.Ile1843=)
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NM_025114.4(CEP290):c.552G>A (p.Gln184=)
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NM_025114.4(CEP290):c.5535A>G (p.Gln1845=)
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NM_025114.4(CEP290):c.5538G>A (p.Glu1846=)
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NM_025114.4(CEP290):c.5549T>C (p.Leu1850Pro)
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rs1176131735
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NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)
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NM_025114.4(CEP290):c.5559A>G (p.Gln1853=)
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rs2035884341
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NM_025114.4(CEP290):c.555A>G (p.Lys185=)
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rs2138097181
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NM_025114.4(CEP290):c.5564_5566del (p.Lys1855del)
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NM_025114.4(CEP290):c.5573C>T (p.Thr1858Ile)
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NM_025114.4(CEP290):c.5574C>G (p.Thr1858=)
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NM_025114.4(CEP290):c.5574C>T (p.Thr1858=)
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rs775652694
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NM_025114.4(CEP290):c.5576G>A (p.Ser1859Asn)
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rs2137056432
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NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg)
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rs2035881706
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NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
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rs1592807018
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NM_025114.4(CEP290):c.5581T>C (p.Leu1861=)
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NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)
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rs2137056192
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NM_025114.4(CEP290):c.5583A>C (p.Leu1861Phe)
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NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)
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NM_025114.4(CEP290):c.5586+12T>C
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NM_025114.4(CEP290):c.5586+14T>G
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NM_025114.4(CEP290):c.5586+17C>T
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rs2137055900
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NM_025114.4(CEP290):c.5586+19C>T
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NM_025114.4(CEP290):c.5586+1G>C
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rs2035880971
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NM_025114.4(CEP290):c.5586+1G>T
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rs2035880971
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NM_025114.4(CEP290):c.5586+8_5586+9insGATTACAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
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NM_025114.4(CEP290):c.5587-10T>A
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rs1592805772
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NM_025114.4(CEP290):c.5587-12T>G
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NM_025114.4(CEP290):c.5587-14_5588del
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NM_025114.4(CEP290):c.5587-15C>T
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NM_025114.4(CEP290):c.5587-16dup
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NM_025114.4(CEP290):c.5587-19G>A
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NM_025114.4(CEP290):c.5587-7T>A
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NM_025114.4(CEP290):c.5587-9A>C
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rs2035856064
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NM_025114.4(CEP290):c.558_561del (p.Asp188fs)
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NM_025114.4(CEP290):c.5596del (p.Pro1865_Leu1866insTer)
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NM_025114.4(CEP290):c.5599A>G (p.Thr1867Ala)
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NM_025114.4(CEP290):c.5605A>C (p.Asn1869His)
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NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
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rs777353443
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NM_025114.4(CEP290):c.560T>C (p.Ile187Thr)
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NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
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rs727503853
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NM_025114.4(CEP290):c.5614del (p.Ser1872fs)
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NM_025114.4(CEP290):c.5619A>G (p.Leu1873=)
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rs2035852547
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NM_025114.4(CEP290):c.5625A>G (p.Glu1875=)
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rs754796813
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NM_025114.4(CEP290):c.5631C>T (p.Leu1877=)
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rs2137050526
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NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter)
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rs2137050478
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NM_025114.4(CEP290):c.5634A>G (p.Gln1878=)
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NM_025114.4(CEP290):c.5648A>C (p.Lys1883Thr)
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NM_025114.4(CEP290):c.5649A>G (p.Lys1883=)
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rs2137050153
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NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
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rs281865188
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NM_025114.4(CEP290):c.5658C>T (p.Asn1886=)
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NM_025114.4(CEP290):c.5659C>A (p.Gln1887Lys)
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NM_025114.4(CEP290):c.5676G>A (p.Val1892=)
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rs2137049568
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NM_025114.4(CEP290):c.567A>G (p.Ser189=)
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NM_025114.4(CEP290):c.5682A>G (p.Glu1894=)
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NM_025114.4(CEP290):c.5684T>C (p.Val1895Ala)
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NM_025114.4(CEP290):c.5689C>T (p.Leu1897=)
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rs2137049271
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NM_025114.4(CEP290):c.5691A>G (p.Leu1897=)
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NM_025114.4(CEP290):c.5698A>G (p.Met1900Val)
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rs1415835597
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NM_025114.4(CEP290):c.569A>G (p.Gln190Arg)
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rs2039990572
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NM_025114.4(CEP290):c.5709+12A>T
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NM_025114.4(CEP290):c.5709+14C>A
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NM_025114.4(CEP290):c.5709+17A>C
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NM_025114.4(CEP290):c.5709+1G>A
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rs759850328
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NM_025114.4(CEP290):c.5709+2T>G
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NM_025114.4(CEP290):c.5709+7G>A
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NM_025114.4(CEP290):c.5710-13G>A
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NM_025114.4(CEP290):c.5710-18C>G
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NM_025114.4(CEP290):c.5710-7_5710-5del
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NM_025114.4(CEP290):c.5710-9T>C
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NM_025114.4(CEP290):c.5714del (p.Ala1905fs)
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rs2136966486
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NM_025114.4(CEP290):c.5715T>C (p.Ala1905=)
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NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs)
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rs754728136
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NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser)
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rs1565813077
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NM_025114.4(CEP290):c.5739A>G (p.Glu1913=)
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NM_025114.4(CEP290):c.5745T>C (p.Gly1915=)
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rs2035404611
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NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
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NM_025114.4(CEP290):c.5750del (p.Lys1917fs)
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NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
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NM_025114.4(CEP290):c.5757A>G (p.Gln1919=)
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NM_025114.4(CEP290):c.5766A>T (p.Ile1922=)
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rs1027531979
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NM_025114.4(CEP290):c.5766_5769del (p.Ile1922fs)
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NM_025114.4(CEP290):c.5775T>C (p.Ile1925=)
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NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
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rs561598805
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NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
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rs778030031
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NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
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rs778030031
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NM_025114.4(CEP290):c.5783del (p.Lys1928fs)
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rs2136964738
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NM_025114.4(CEP290):c.5784G>A (p.Lys1928=)
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rs2136964688
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NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
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rs1592784618
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NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs)
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rs2035400071
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NM_025114.4(CEP290):c.5790A>C (p.Lys1930Asn)
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NM_025114.4(CEP290):c.5790del (p.Glu1931fs)
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rs2136964542
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NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs)
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rs2136964385
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NM_025114.4(CEP290):c.5796A>G (p.Lys1932=)
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NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
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NM_025114.4(CEP290):c.5799G>A (p.Glu1933=)
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rs2136964287
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NM_025114.4(CEP290):c.579_580del (p.Leu194fs)
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NM_025114.4(CEP290):c.57C>G (p.Pro19=)
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NM_025114.4(CEP290):c.57C>T (p.Pro19=)
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NM_025114.4(CEP290):c.5801G>A (p.Gly1934Glu)
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NM_025114.4(CEP290):c.5802G>A (p.Gly1934=)
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NM_025114.4(CEP290):c.5803G>A (p.Glu1935Lys)
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NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
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rs886042360
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NM_025114.4(CEP290):c.5805A>G (p.Glu1935=)
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rs2136964084
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NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)
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rs2136964084
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NM_025114.4(CEP290):c.5805dup (p.Val1936fs)
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NM_025114.4(CEP290):c.5810T>C (p.Phe1937Ser)
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rs2035398253
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NM_025114.4(CEP290):c.5811T>C (p.Phe1937=)
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NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile)
|
rs2035397823
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NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
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NM_025114.4(CEP290):c.5816dup (p.Leu1939fs)
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|
|
NM_025114.4(CEP290):c.5823G>A (p.Lys1941=)
|
|
|
|
NM_025114.4(CEP290):c.5824C>A (p.Gln1942Lys)
|
|
|
|
NM_025114.4(CEP290):c.5825A>G (p.Gln1942Arg)
|
|
|
|
NM_025114.4(CEP290):c.5828del (p.Gln1942_Leu1943insTer)
|
|
|
|
NM_025114.4(CEP290):c.5829G>A (p.Leu1943=)
|
rs1195022621
|
|
|
NM_025114.4(CEP290):c.5830A>T (p.Asn1944Tyr)
|
rs1014034003
|
|
|
NM_025114.4(CEP290):c.5838G>A (p.Leu1946=)
|
|
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
|
NM_025114.4(CEP290):c.5841G>A (p.Lys1947=)
|
rs2136963237
|
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
|
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly)
|
rs2035394009
|
|
|
NM_025114.4(CEP290):c.5853C>A (p.Ala1951=)
|
rs2136962808
|
|
|
NM_025114.4(CEP290):c.5853C>G (p.Ala1951=)
|
rs2136962808
|
|
|
NM_025114.4(CEP290):c.5853C>T (p.Ala1951=)
|
|
|
|
NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter)
|
rs2035393800
|
|
|
NM_025114.4(CEP290):c.5855+11A>C
|
|
|
|
NM_025114.4(CEP290):c.5855+11A>G
|
|
|
|
NM_025114.4(CEP290):c.5855+18T>A
|
|
|
|
NM_025114.4(CEP290):c.5855+18_5855+20del
|
rs1442503417
|
|
|
NM_025114.4(CEP290):c.5856-13T>C
|
|
|
|
NM_025114.4(CEP290):c.5856-14A>G
|
|
|
|
NM_025114.4(CEP290):c.5856-16A>C
|
|
|
|
NM_025114.4(CEP290):c.5856-16A>G
|
|
|
|
NM_025114.4(CEP290):c.5856-16A>T
|
rs372444243
|
|
|
NM_025114.4(CEP290):c.5856-1_5856delinsTT
|
rs2136958216
|
|
|
NM_025114.4(CEP290):c.5856-2A>C
|
|
|
|
NM_025114.4(CEP290):c.585A>G (p.Leu195=)
|
rs2138096227
|
|
|
NM_025114.4(CEP290):c.5868G>A (p.Glu1956=)
|
|
|
|
NM_025114.4(CEP290):c.5873T>C (p.Leu1958Pro)
|
rs2136957996
|
|
|
NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs)
|
rs2035367210
|
|
|
NM_025114.4(CEP290):c.587C>G (p.Ser196Ter)
|
|
|
|
NM_025114.4(CEP290):c.5889A>G (p.Lys1963=)
|
|
|
|
NM_025114.4(CEP290):c.5892A>G (p.Leu1964=)
|
rs2136957684
|
|
|
NM_025114.4(CEP290):c.5899A>G (p.Thr1967Ala)
|
|
|
|
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys)
|
rs779867970
|
|
|
NM_025114.4(CEP290):c.5901T>C (p.Thr1967=)
|
|
|
|
NM_025114.4(CEP290):c.5910T>C (p.Thr1970=)
|
rs2136957326
|
|
|
NM_025114.4(CEP290):c.5911G>C (p.Val1971Leu)
|
rs2035364656
|
|
|
NM_025114.4(CEP290):c.5925G>A (p.Leu1975=)
|
|
|
|
NM_025114.4(CEP290):c.5927G>A (p.Gly1976Glu)
|
rs2136956748
|
|
|
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs)
|
rs1555201796
|
|
|
NM_025114.4(CEP290):c.5932C>G (p.Arg1978Gly)
|
rs371525247
|
|
|
NM_025114.4(CEP290):c.5943G>A (p.Glu1981=)
|
|
|
|
NM_025114.4(CEP290):c.5944T>A (p.Ser1982Thr)
|
rs2035360147
|
|
|
NM_025114.4(CEP290):c.594A>G (p.Arg198=)
|
|
|
|
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
|
|
|
|
NM_025114.4(CEP290):c.5956T>C (p.Leu1986=)
|
|
|
|
NM_025114.4(CEP290):c.5962G>A (p.Glu1988Lys)
|
|
|
|
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)
|
rs2035358840
|
|
|
NM_025114.4(CEP290):c.5967A>T (p.Leu1989Phe)
|
|
|
|
NM_025114.4(CEP290):c.5969A>G (p.Lys1990Arg)
|
|
|
|
NM_025114.4(CEP290):c.5970A>G (p.Lys1990=)
|
|
|
|
NM_025114.4(CEP290):c.5972del (p.Lys1991fs)
|
rs1468269366
|
|
|
NM_025114.4(CEP290):c.597_648del (p.Glu200fs)
|
rs2039985700
|
|
|
NM_025114.4(CEP290):c.5986T>G (p.Leu1996Val)
|
|
|
|
NM_025114.4(CEP290):c.5995G>C (p.Asp1999His)
|
rs2136955385
|
|
|
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=)
|
|
|
|
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr)
|
rs1592782496
|
|
|
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=)
|
rs112738303
|
|
|
NM_025114.4(CEP290):c.6003G>A (p.Leu2001=)
|
rs2035355059
|
|
|
NM_025114.4(CEP290):c.6011+13G>T
|
|
|
|
NM_025114.4(CEP290):c.6011+14_6011+15del
|
rs1565811649
|
|
|
NM_025114.4(CEP290):c.6011+15G>A
|
|
|
|
NM_025114.4(CEP290):c.6011+2T>G
|
|
|
|
NM_025114.4(CEP290):c.6011+7dup
|
|
|
|
NM_025114.4(CEP290):c.6011+8A>G
|
|
|
|
NM_025114.4(CEP290):c.6012-11G>A
|
|
|
|
NM_025114.4(CEP290):c.6012-13_6012-12insA
|
|
|
|
NM_025114.4(CEP290):c.6012-14A>G
|
|
|
|
NM_025114.4(CEP290):c.6012-18T>C
|
rs2035130236
|
|
|
NM_025114.4(CEP290):c.6012-4A>C
|
rs760029406
|
|
|
NM_025114.4(CEP290):c.6012-4A>G
|
|
|
|
NM_025114.4(CEP290):c.6012-5C>A
|
|
|
|
NM_025114.4(CEP290):c.6012-9T>C
|
rs2136914044
|
|
|
NM_025114.4(CEP290):c.6012G>A (p.Arg2004=)
|
rs2136913860
|
|
|
NM_025114.4(CEP290):c.6030T>A (p.Pro2010=)
|
|
|
|
NM_025114.4(CEP290):c.6032G>A (p.Arg2011Gln)
|
|
|
|
NM_025114.4(CEP290):c.6037T>C (p.Ser2013Pro)
|
rs2136913105
|
|
|
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala)
|
rs2136913105
|
|
|
NM_025114.4(CEP290):c.603C>T (p.Asp201=)
|
|
|
|
NM_025114.4(CEP290):c.6042T>C (p.Val2014=)
|
rs2035125225
|
|
|
NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs)
|
rs2035124136
|
|
|
NM_025114.4(CEP290):c.6045AGA[1] (p.Glu2016del)
|
rs1481875615
|
|
|
NM_025114.4(CEP290):c.6054A>G (p.Leu2018=)
|
rs2136912612
|
|
|
NM_025114.4(CEP290):c.6057T>C (p.His2019=)
|
|
|
|
NM_025114.4(CEP290):c.6060A>G (p.Leu2020=)
|
rs2035122755
|
|
|
NM_025114.4(CEP290):c.6062A>C (p.Gln2021Pro)
|
|
|
|
NM_025114.4(CEP290):c.6065A>G (p.Asn2022Ser)
|
rs1283291449
|
|
|
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)
|
rs764861728
|
|
|
NM_025114.4(CEP290):c.6067A>G (p.Arg2023Gly)
|
|
|
|
NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter)
|
|
|
|
NM_025114.4(CEP290):c.6079del (p.Glu2027fs)
|
rs2136911634
|
|
|
NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg)
|
|
|
|
NM_025114.4(CEP290):c.6084A>G (p.Lys2028=)
|
rs2136911467
|
|
|
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs)
|
rs2136911405
|
|
|
NM_025114.4(CEP290):c.6087T>A (p.Leu2029=)
|
rs1592770859
|
|
|
NM_025114.4(CEP290):c.6087T>C (p.Leu2029=)
|
|
|
|
NM_025114.4(CEP290):c.6102A>G (p.Lys2034=)
|
rs752291080
|
|
|
NM_025114.4(CEP290):c.6103del (p.Gln2035fs)
|
rs2136910908
|
|
|
NM_025114.4(CEP290):c.6105G>A (p.Gln2035=)
|
rs754426182
|
|
|
NM_025114.4(CEP290):c.6105G>C (p.Gln2035His)
|
|
|
|
NM_025114.4(CEP290):c.6120A>T (p.Thr2040=)
|
rs766265410
|
|
|
NM_025114.4(CEP290):c.6130C>T (p.Pro2044Ser)
|
rs750159998
|
|
|
NM_025114.4(CEP290):c.6134C>T (p.Ser2045Leu)
|
|
|
|
NM_025114.4(CEP290):c.6135+10T>C
|
rs371097588
|
|
|
NM_025114.4(CEP290):c.6135+13C>G
|
|
|
|
NM_025114.4(CEP290):c.6135+15T>C
|
|
|
|
NM_025114.4(CEP290):c.6135+19T>C
|
|
|
|
NM_025114.4(CEP290):c.6135+9A>C
|
|
|
|
NM_025114.4(CEP290):c.6135+9A>G
|
|
|
|
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=)
|
rs2035114777
|
|
|
NM_025114.4(CEP290):c.6136-13C>A
|
|
|
|
NM_025114.4(CEP290):c.6136-6C>G
|
|
|
|
NM_025114.4(CEP290):c.6136-8C>T
|
|
|
|
NM_025114.4(CEP290):c.6136A>G (p.Ile2046Val)
|
|
|
|
NM_025114.4(CEP290):c.6138T>A (p.Ile2046=)
|
|
|
|
NM_025114.4(CEP290):c.613C>G (p.Arg205Gly)
|
|
|
|
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=)
|
rs779553989
|
|
|
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln)
|
|
|
|
NM_025114.4(CEP290):c.6154_6161del (p.Asp2052fs)
|
rs867904492
|
|
|
NM_025114.4(CEP290):c.6156_6159del (p.Asp2053fs)
|
|
|
|
NM_025114.4(CEP290):c.615A>T (p.Arg205=)
|
|
|
|
NM_025114.4(CEP290):c.6162T>C (p.His2054=)
|
rs867670449
|
|
|
NM_025114.4(CEP290):c.6163T>G (p.Cys2055Gly)
|
rs2136814953
|
|
|
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=)
|
rs2034700190
|
|
|
NM_025114.4(CEP290):c.6170_6173del (p.Arg2057fs)
|
|
|
|
NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)
|
|
|
|
NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter)
|
rs2136814350
|
|
|
NM_025114.4(CEP290):c.6192A>G (p.Glu2064=)
|
rs1565798798
|
|
|
NM_025114.4(CEP290):c.6196T>C (p.Leu2066=)
|
rs2136814010
|
|
|
NM_025114.4(CEP290):c.6200A>G (p.Lys2067Arg)
|
|
|
|
NM_025114.4(CEP290):c.6204G>A (p.Leu2068=)
|
|
|
|
NM_025114.4(CEP290):c.6207A>T (p.Ser2069=)
|
rs1327169453
|
|
|
NM_025114.4(CEP290):c.620A>G (p.Gln207Arg)
|
rs2138095264
|
|
|
NM_025114.4(CEP290):c.6216T>C (p.Asn2072=)
|
|
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
|
NM_025114.4(CEP290):c.621G>A (p.Gln207=)
|
|
|
|
NM_025114.4(CEP290):c.6223C>G (p.Leu2075Val)
|
|
|
|
NM_025114.4(CEP290):c.6225G>C (p.Leu2075=)
|
|
|
|
NM_025114.4(CEP290):c.6228A>T (p.Lys2076Asn)
|
rs2136813251
|
|
|
NM_025114.4(CEP290):c.6234G>A (p.Gln2078=)
|
|
|
|
NM_025114.4(CEP290):c.6249_6252del (p.Asn2083fs)
|
|
|
|
NM_025114.4(CEP290):c.6254A>T (p.Asp2085Val)
|
rs774510171
|
|
|
NM_025114.4(CEP290):c.6258G>A (p.Leu2086=)
|
|
|
|
NM_025114.4(CEP290):c.6261A>C (p.Pro2087=)
|
|
|
|
NM_025114.4(CEP290):c.6261A>G (p.Pro2087=)
|
rs2136812192
|
|
|
NM_025114.4(CEP290):c.6264A>G (p.Arg2088=)
|
rs2136812129
|
|
|
NM_025114.4(CEP290):c.6269A>G (p.Lys2090Arg)
|
|
|
|
NM_025114.4(CEP290):c.6270+12G>A
|
|
|
|
NM_025114.4(CEP290):c.6270+17T>G
|
rs1473886719
|
|
|
NM_025114.4(CEP290):c.6270+18del
|
rs371141771
|
|
|
NM_025114.4(CEP290):c.6270+19del
|
|
|
|
NM_025114.4(CEP290):c.6270+1G>T
|
|
|
|
NM_025114.4(CEP290):c.6270+2T>C
|
|
|
|
NM_025114.4(CEP290):c.6270+9A>G
|
rs2136811401
|
|
|
NM_025114.4(CEP290):c.6271-11T>C
|
|
|
|
NM_025114.4(CEP290):c.6271-13T>G
|
|
|
|
NM_025114.4(CEP290):c.6271-16G>A
|
|
|
|
NM_025114.4(CEP290):c.6271-6_6274del
|
rs2034579427
|
|
|
NM_025114.4(CEP290):c.6271-8T>G
|
rs1039146791
|
|
|
NM_025114.4(CEP290):c.6271-9A>T
|
|
|
|
NM_025114.4(CEP290):c.6291G>A (p.Lys2097=)
|
rs2136785499
|
|
|
NM_025114.4(CEP290):c.6294A>G (p.Glu2098=)
|
rs1213494233
|
|
|
NM_025114.4(CEP290):c.6297G>T (p.Met2099Ile)
|
rs753507165
|
|
|
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr)
|
rs1274778299
|
|
|
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr)
|
|
|
|
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del)
|
rs749826807
|
|
|
NM_025114.4(CEP290):c.6324A>G (p.Ala2108=)
|
|
|
|
NM_025114.4(CEP290):c.6327A>G (p.Glu2109=)
|
|
|
|
NM_025114.4(CEP290):c.6336G>A (p.Arg2112=)
|
rs1475220538
|
|
|
NM_025114.4(CEP290):c.6347A>G (p.His2116Arg)
|
|
|
|
NM_025114.4(CEP290):c.6348T>C (p.His2116=)
|
|
|
|
NM_025114.4(CEP290):c.6351T>C (p.Val2117=)
|
rs2136784239
|
|
|
NM_025114.4(CEP290):c.6354A>G (p.Arg2118=)
|
rs762397066
|
|
|
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser)
|
rs762397066
|
|
|
NM_025114.4(CEP290):c.6357+11A>C
|
|
|
|
NM_025114.4(CEP290):c.6357+16C>T
|
|
|
|
NM_025114.4(CEP290):c.6357+17C>T
|
|
|
|
NM_025114.4(CEP290):c.6357+1G>A
|
rs1196938557
|
|
|
NM_025114.4(CEP290):c.6357+20A>G
|
|
|
|
NM_025114.4(CEP290):c.6357+9_6357+14del
|
|
|
|
NM_025114.4(CEP290):c.6358-11T>C
|
|
|
|
NM_025114.4(CEP290):c.6358-13T>C
|
rs1355948965
|
|
|
NM_025114.4(CEP290):c.6358-14A>G
|
|
|
|
NM_025114.4(CEP290):c.6358-16del
|
|
|
|
NM_025114.4(CEP290):c.6358-17_6358-10del
|
|
|
|
NM_025114.4(CEP290):c.6358-18_6358-15del
|
|
|
|
NM_025114.4(CEP290):c.6358-20T>C
|
|
|
|
NM_025114.4(CEP290):c.6358-6T>C
|
|
|
|
NM_025114.4(CEP290):c.6358-7T>C
|
rs1323070560
|
|
|
NM_025114.4(CEP290):c.635_636insG (p.Asn212fs)
|
|
|
|
NM_025114.4(CEP290):c.635_636insT (p.Tyr213fs)
|
|
|
|
NM_025114.4(CEP290):c.635del (p.Asn212fs)
|
|
|
|
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
|
rs769091629
|
|
|
NM_025114.4(CEP290):c.6360dup (p.Gly2121fs)
|
|
|
|
NM_025114.4(CEP290):c.6363T>C (p.Gly2121=)
|
rs2136752914
|
|
|
NM_025114.4(CEP290):c.6369T>C (p.Ser2123=)
|
rs750473077
|
|
|
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg)
|
|
|
|
NM_025114.4(CEP290):c.6372A>G (p.Gly2124=)
|
|
|
|
NM_025114.4(CEP290):c.6377_6378del (p.Thr2126fs)
|
|
|
|
NM_025114.4(CEP290):c.6384A>G (p.Pro2128=)
|
|
|
|
NM_025114.4(CEP290):c.6387A>G (p.Glu2129=)
|
|
|
|
NM_025114.4(CEP290):c.6388C>A (p.Leu2130Met)
|
rs1178627897
|
|
|
NM_025114.4(CEP290):c.6388C>T (p.Leu2130=)
|
|
|
|
NM_025114.4(CEP290):c.6398C>A (p.Thr2133Asn)
|
rs775860198
|
|
|
NM_025114.4(CEP290):c.6417dup (p.Val2140fs)
|
|
|
|
NM_025114.4(CEP290):c.6418_6419insC (p.Val2140fs)
|
rs2136751258
|
|
|
NM_025114.4(CEP290):c.6420A>G (p.Val2140=)
|
rs2034432859
|
|
|
NM_025114.4(CEP290):c.6421G>A (p.Val2141Ile)
|
rs2136751097
|
|
|
NM_025114.4(CEP290):c.6424dup (p.Glu2142fs)
|
|
|
|
NM_025114.4(CEP290):c.642G>A (p.Glu214=)
|
rs2138094419
|
|
|
NM_025114.4(CEP290):c.6432C>A (p.Val2144=)
|
|
|
|
NM_025114.4(CEP290):c.6433C>G (p.Gln2145Glu)
|
rs747203539
|
|
|
NM_025114.4(CEP290):c.6435G>T (p.Gln2145His)
|
rs1308226735
|
|
|
NM_025114.4(CEP290):c.6438A>G (p.Arg2146=)
|
|
|
|
NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter)
|
rs1234975160
|
|
|
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys)
|
|
|
|
NM_025114.4(CEP290):c.6447del (p.Glu2149fs)
|
rs1157238971
|
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
|
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
|
rs191613017
|
|
|
NM_025114.4(CEP290):c.6461C>A (p.Ala2154Glu)
|
|
|
|
NM_025114.4(CEP290):c.6468A>G (p.Gly2156=)
|
|
|
|
NM_025114.4(CEP290):c.6472T>C (p.Leu2158=)
|
|
|
|
NM_025114.4(CEP290):c.6474G>A (p.Leu2158=)
|
rs2034427417
|
|
|
NM_025114.4(CEP290):c.6487dup (p.Met2163fs)
|
rs2136748724
|
|
|
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile)
|
rs1017249180
|
|
|
NM_025114.4(CEP290):c.648C>A (p.Ile216=)
|
rs748527265
|
|
|
NM_025114.4(CEP290):c.6497T>C (p.Ile2166Thr)
|
|
|
|
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)
|
rs780211907
|
|
|
NM_025114.4(CEP290):c.6505G>A (p.Glu2169Lys)
|
rs2136748183
|
|
|
NM_025114.4(CEP290):c.6510T>A (p.Asn2170Lys)
|
|
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
|
NM_025114.4(CEP290):c.6516dup (p.Leu2173fs)
|
rs1057519165
|
|
|
NM_025114.4(CEP290):c.6517T>C (p.Leu2173=)
|
|
|
|
NM_025114.4(CEP290):c.6522+11_6522+12del
|
|
|
|
NM_025114.4(CEP290):c.6522+11_6522+12dup
|
|
|
|
NM_025114.4(CEP290):c.6522+12del
|
|
|
|
NM_025114.4(CEP290):c.6522+13A>T
|
|
|
|
NM_025114.4(CEP290):c.6522+13_6522+14insC
|
|
|
|
NM_025114.4(CEP290):c.6522+14_6522+15insC
|
|
|
|
NM_025114.4(CEP290):c.6522+16G>A
|
|
|
|
NM_025114.4(CEP290):c.6522+18G>C
|
|
|
|
NM_025114.4(CEP290):c.6522+19A>T
|
|
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
|
NM_025114.4(CEP290):c.6522+6_6522+7insC
|
|
|
|
NM_025114.4(CEP290):c.6522+8_6522+9insA
|
|
|
|
NM_025114.4(CEP290):c.6523-12T>C
|
rs761172645
|
|
|
NM_025114.4(CEP290):c.6523-12T>G
|
|
|
|
NM_025114.4(CEP290):c.6523-12dup
|
rs1216267478
|
|
|
NM_025114.4(CEP290):c.6523-13G>T
|
|
|
|
NM_025114.4(CEP290):c.6523-13_6523-10del
|
rs779782832
|
|
|
NM_025114.4(CEP290):c.6523-14T>C
|
|
|
|
NM_025114.4(CEP290):c.6523-14T>G
|
|
|
|
NM_025114.4(CEP290):c.6523-17_6523-15del
|
rs751359519
|
|
|
NM_025114.4(CEP290):c.6523-18T>C
|
|
|
|
NM_025114.4(CEP290):c.6523-18T>G
|
rs954082831
|
|
|
NM_025114.4(CEP290):c.6523-22_6523-18del
|
rs2034347330
|
|
|
NM_025114.4(CEP290):c.6523-6del
|
|
|
|
NM_025114.4(CEP290):c.6523-8T>C
|
|
|
|
NM_025114.4(CEP290):c.6523-9T>G
|
|
|
|
NM_025114.4(CEP290):c.6537del (p.Lys2179fs)
|
rs2136728464
|
|
|
NM_025114.4(CEP290):c.6538C>T (p.Leu2180Phe)
|
rs1381853150
|
|
|
NM_025114.4(CEP290):c.653A>G (p.Tyr218Cys)
|
|
|
|
NM_025114.4(CEP290):c.6541A>G (p.Lys2181Glu)
|
|
|
|
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro)
|
rs2034340081
|
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
|
NM_025114.4(CEP290):c.6553G>C (p.Gly2185Arg)
|
|
|
|
NM_025114.4(CEP290):c.6561G>A (p.Gln2187=)
|
rs2136727209
|
|
|
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile)
|
rs1480802620
|
|
|
NM_025114.4(CEP290):c.6572A>G (p.His2191Arg)
|
rs368428115
|
|
|
NM_025114.4(CEP290):c.6579A>G (p.Glu2193=)
|
|
|
|
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=)
|
rs1592739990
|
|
|
NM_025114.4(CEP290):c.6585G>A (p.Lys2195=)
|
|
|
|
NM_025114.4(CEP290):c.6588C>T (p.Thr2196=)
|
|
|
|
NM_025114.4(CEP290):c.6592G>T (p.Gly2198Cys)
|
|
|
|
NM_025114.4(CEP290):c.6595A>T (p.Thr2199Ser)
|
|
|
|
NM_025114.4(CEP290):c.6600A>G (p.Glu2200=)
|
rs2136725980
|
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
|
NM_025114.4(CEP290):c.6606T>A (p.Ile2202=)
|
|
|
|
NM_025114.4(CEP290):c.6606T>C (p.Ile2202=)
|
|
|
|
NM_025114.4(CEP290):c.661G>T (p.Glu221Ter)
|
rs2138093974
|
|
|
NM_025114.4(CEP290):c.6624G>A (p.Arg2208=)
|
|
|
|
NM_025114.4(CEP290):c.6624del (p.Arg2208fs)
|
rs2136725569
|
|
|
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)
|
rs2034330893
|
|
|
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
|
|
|
|
NM_025114.4(CEP290):c.6644A>T (p.Lys2215Ile)
|
|
|
|
NM_025114.4(CEP290):c.6645+4T>A
|
|
|
|
NM_025114.4(CEP290):c.6645+7C>T
|
rs762527255
|
|
|
NM_025114.4(CEP290):c.6645del (p.Glu2216fs)
|
rs2136724878
|
|
|
NM_025114.4(CEP290):c.6646-10T>C
|
rs2136707145
|
|
|
NM_025114.4(CEP290):c.6646-16del
|
|
|
|
NM_025114.4(CEP290):c.6646-17T>C
|
|
|
|
NM_025114.4(CEP290):c.6646-4A>G
|
|
|
|
NM_025114.4(CEP290):c.6646-9T>C
|
|
|
|
NM_025114.4(CEP290):c.6649A>G (p.Thr2217Ala)
|
|
|
|
NM_025114.4(CEP290):c.664del (p.Ile222fs)
|
rs2138093868
|
|
|
NM_025114.4(CEP290):c.6653A>G (p.Asp2218Gly)
|
rs2136706903
|
|
|
NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)
|
|
|
|
NM_025114.4(CEP290):c.6662A>C (p.Glu2221Ala)
|
|
|
|
NM_025114.4(CEP290):c.6670C>T (p.Arg2224Trp)
|
|
|
|
NM_025114.4(CEP290):c.6672G>A (p.Arg2224=)
|
|
|
|
NM_025114.4(CEP290):c.667C>G (p.Gln223Glu)
|
rs2138093804
|
|
|
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys)
|
|
|
|
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser)
|
rs2034240934
|
|
|
NM_025114.4(CEP290):c.669+15A>G
|
|
|
|
NM_025114.4(CEP290):c.669+16G>A
|
rs1408808578
|
|
|
NM_025114.4(CEP290):c.669+20A>T
|
|
|
|
NM_025114.4(CEP290):c.669+6del
|
rs761225874
|
|
|
NM_025114.4(CEP290):c.669+6dup
|
rs761225874
|
|
|
NM_025114.4(CEP290):c.669+8G>A
|
rs768408897
|
|
|
NM_025114.4(CEP290):c.669+9G>A
|
rs746701712
|
|
|
NM_025114.4(CEP290):c.669+9G>T
|
rs746701712
|
|
|
NM_025114.4(CEP290):c.6693G>A (p.Glu2231=)
|
rs2136706174
|
|
|
NM_025114.4(CEP290):c.670-13T>C
|
|
|
|
NM_025114.4(CEP290):c.670-13_670-12del
|
rs941686794
|
|
|
NM_025114.4(CEP290):c.670-3dup
|
|
|
|
NM_025114.4(CEP290):c.670-7T>G
|
|
|
|
NM_025114.4(CEP290):c.670-9C>T
|
|
|
|
NM_025114.4(CEP290):c.6714A>C (p.Thr2238=)
|
rs1293521533
|
|
|
NM_025114.4(CEP290):c.6721C>T (p.Leu2241=)
|
|
|
|
NM_025114.4(CEP290):c.6734G>A (p.Gly2245Asp)
|
rs766640788
|
|
|
NM_025114.4(CEP290):c.6742T>C (p.Leu2248=)
|
|
|
|
NM_025114.4(CEP290):c.6744G>A (p.Leu2248=)
|
rs2136705270
|
|
|
NM_025114.4(CEP290):c.6750T>G (p.Phe2250Leu)
|
|
|
|
NM_025114.4(CEP290):c.6753A>G (p.Ala2251=)
|
rs2136704965
|
|
|
NM_025114.4(CEP290):c.6756A>G (p.Glu2252=)
|
rs750070359
|
|
|
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs)
|
rs2034235109
|
|
|
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp)
|
rs377561473
|
|
|
NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter)
|
rs2136704614
|
|
|
NM_025114.4(CEP290):c.6774T>G (p.Leu2258=)
|
rs2034234195
|
|
|
NM_025114.4(CEP290):c.6776A>C (p.Glu2259Ala)
|
|
|
|
NM_025114.4(CEP290):c.6777A>G (p.Glu2259=)
|
|
|
|
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)
|
rs2034232539
|
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
|
NM_025114.4(CEP290):c.6804C>G (p.Ser2268=)
|
rs775553764
|
|
|
NM_025114.4(CEP290):c.6805A>G (p.Ile2269Val)
|
|
|
|
NM_025114.4(CEP290):c.6818+10G>C
|
|
|
|
NM_025114.4(CEP290):c.6818+20C>T
|
|
|
|
NM_025114.4(CEP290):c.6818+2T>C
|
|
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
|
NM_025114.4(CEP290):c.6819-10A>C
|
rs150241790
|
|
|
NM_025114.4(CEP290):c.6819-11T>C
|
rs2136657156
|
|
|
NM_025114.4(CEP290):c.6819-15del
|
|
|
|
NM_025114.4(CEP290):c.6819-15dup
|
|
|
|
NM_025114.4(CEP290):c.6819-5T>A
|
|
|
|
NM_025114.4(CEP290):c.6819-6T>C
|
rs2136656943
|
|
|
NM_025114.4(CEP290):c.6819-7C>T
|
|
|
|
NM_025114.4(CEP290):c.6823T>G (p.Tyr2275Asp)
|
|
|
|
NM_025114.4(CEP290):c.6824A>T (p.Tyr2275Phe)
|
|
|
|
NM_025114.4(CEP290):c.6831C>A (p.Thr2277=)
|
|
|
|
NM_025114.4(CEP290):c.6831C>T (p.Thr2277=)
|
|
|
|
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)
|
rs2033943937
|
|
|
NM_025114.4(CEP290):c.6837A>G (p.Leu2279=)
|
rs2136656585
|
|
|
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
|
|
|
|
NM_025114.4(CEP290):c.6841G>A (p.Glu2281Lys)
|
|
|
|
NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter)
|
rs2136656497
|
|
|
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)
|
rs2033943524
|
|
|
NM_025114.4(CEP290):c.6846G>A (p.Leu2282=)
|
|
|
|
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys)
|
rs2136656424
|
|
|
NM_025114.4(CEP290):c.6869A>G (p.Asn2290Ser)
|
rs2033940025
|
|
|
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
|
rs587783017
|
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
|
NM_025114.4(CEP290):c.6875G>C (p.Ser2292Thr)
|
|
|
|
NM_025114.4(CEP290):c.6876C>G (p.Ser2292Arg)
|
rs538590274
|
|
|
NM_025114.4(CEP290):c.6879T>C (p.Ile2293=)
|
rs1592725976
|
|
|
NM_025114.4(CEP290):c.687T>C (p.Asn229=)
|
rs2138087198
|
|
|
NM_025114.4(CEP290):c.6892C>G (p.Gln2298Glu)
|
|
|
|
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)
|
rs2033937635
|
|
|
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg)
|
rs1337960015
|
|
|
NM_025114.4(CEP290):c.6895C>T (p.Leu2299Phe)
|
|
|
|
NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)
|
|
|
|
NM_025114.4(CEP290):c.6917G>A (p.Arg2306Lys)
|
rs1772781673
|
|
|
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs)
|
rs1177923180
|
|
|
NM_025114.4(CEP290):c.6919G>A (p.Glu2307Lys)
|
|
|
|
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
|
rs1177923180
|
|
|
NM_025114.4(CEP290):c.6919_6920dup (p.Gln2308fs)
|
rs1177923180
|
|
|
NM_025114.4(CEP290):c.6922C>A (p.Gln2308Lys)
|
|
|
|
NM_025114.4(CEP290):c.6924A>G (p.Gln2308=)
|
rs2033935023
|
|
|
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
|
|
|
|
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
|
|
|
|
NM_025114.4(CEP290):c.6933C>G (p.Asn2311Lys)
|
|
|
|
NM_025114.4(CEP290):c.6942T>C (p.Asn2314=)
|
rs2136654318
|
|
|
NM_025114.4(CEP290):c.694dup (p.Ile232fs)
|
|
|
|
NM_025114.4(CEP290):c.6951T>A (p.Leu2317=)
|
|
|
|
NM_025114.4(CEP290):c.6954A>G (p.Glu2318=)
|
rs2136653946
|
|
|
NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu)
|
rs780375623
|
|
|
NM_025114.4(CEP290):c.6960+14T>G
|
|
|
|
NM_025114.4(CEP290):c.6960+5_6960+8del
|
rs2033930168
|
|
|
NM_025114.4(CEP290):c.6960+9C>A
|
|
|
|
NM_025114.4(CEP290):c.6960+9_6960+13del
|
|
|
|
NM_025114.4(CEP290):c.6961-10G>A
|
|
|
|
NM_025114.4(CEP290):c.6961-12T>C
|
|
|
|
NM_025114.4(CEP290):c.6961-18T>C
|
|
|
|
NM_025114.4(CEP290):c.6961-1G>T
|
rs2136637204
|
|
|
NM_025114.4(CEP290):c.6961-3_6965del
|
|
|
|
NM_025114.4(CEP290):c.6961-5dup
|
rs2033832669
|
|
|
NM_025114.4(CEP290):c.6961-6T>C
|
rs768947002
|
|
|
NM_025114.4(CEP290):c.6969T>A (p.Ile2323=)
|
rs2136637133
|
|
|
NM_025114.4(CEP290):c.6970C>T (p.Leu2324Phe)
|
rs1261405954
|
|
|
NM_025114.4(CEP290):c.6972T>C (p.Leu2324=)
|
|
|
|
NM_025114.4(CEP290):c.6976C>A (p.His2326Asn)
|
rs2136637071
|
|
|
NM_025114.4(CEP290):c.6977A>G (p.His2326Arg)
|
|
|
|
NM_025114.4(CEP290):c.6978T>C (p.His2326=)
|
rs775641877
|
|
|
NM_025114.4(CEP290):c.6981T>C (p.Val2327=)
|
|
|
|
NM_025114.4(CEP290):c.6987A>G (p.Glu2329=)
|
rs2136636831
|
|
|
NM_025114.4(CEP290):c.698A>G (p.Glu233Gly)
|
rs2138087140
|
|
|
NM_025114.4(CEP290):c.6991G>T (p.Ala2331Ser)
|
|
|
|
NM_025114.4(CEP290):c.6992del (p.Ala2331fs)
|
|
|
|
NM_025114.4(CEP290):c.6993T>A (p.Ala2331=)
|
rs2136636592
|
|
|
NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter)
|
rs1414041522
|
|
|
NM_025114.4(CEP290):c.6999A>C (p.Thr2333=)
|
|
|
|
NM_025114.4(CEP290):c.6A>C (p.Pro2=)
|
|
|
|
NM_025114.4(CEP290):c.7003dup (p.Gln2335fs)
|
|
|
|
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=)
|
rs1592722143
|
|
|
NM_025114.4(CEP290):c.7007G>A (p.Gly2336Asp)
|
rs863224794
|
|
|
NM_025114.4(CEP290):c.7008C>T (p.Gly2336=)
|
rs2136636238
|
|
|
NM_025114.4(CEP290):c.7015del (p.Arg2339fs)
|
|
|
|
NM_025114.4(CEP290):c.7016G>T (p.Arg2339Leu)
|
|
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
|
NM_025114.4(CEP290):c.7031_7034+7delinsAT
|
|
|
|
NM_025114.4(CEP290):c.7034+13_7034+15del
|
|
|
|
NM_025114.4(CEP290):c.7034+19T>A
|
|
|
|
NM_025114.4(CEP290):c.7034+19T>C
|
|
|
|
NM_025114.4(CEP290):c.7034+8A>C
|
rs1209334887
|
|
|
NM_025114.4(CEP290):c.7034+8A>G
|
|
|
|
NM_025114.4(CEP290):c.7035-11T>C
|
|
|
|
NM_025114.4(CEP290):c.7035-12A>G
|
|
|
|
NM_025114.4(CEP290):c.7035-14T>C
|
|
|
|
NM_025114.4(CEP290):c.7035-15A>G
|
|
|
|
NM_025114.4(CEP290):c.7035-18A>G
|
|
|
|
NM_025114.4(CEP290):c.7035-19C>T
|
|
|
|
NM_025114.4(CEP290):c.7035-7G>T
|
|
|
|
NM_025114.4(CEP290):c.7035-9G>A
|
rs2136625815
|
|
|
NM_025114.4(CEP290):c.7036T>C (p.Leu2346=)
|
|
|
|
NM_025114.4(CEP290):c.7055A>T (p.Asp2352Val)
|
rs2033762979
|
|
|
NM_025114.4(CEP290):c.7056T>G (p.Asp2352Glu)
|
|
|
|
NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr)
|
|
|
|
NM_025114.4(CEP290):c.7067C>G (p.Ala2356Gly)
|
rs2136624871
|
|
|
NM_025114.4(CEP290):c.7077C>A (p.Ile2359=)
|
|
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
|
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu)
|
rs1364454411
|
|
|
NM_025114.4(CEP290):c.7107T>A (p.Ser2369Arg)
|
|
|
|
NM_025114.4(CEP290):c.7111G>T (p.Ala2371Ser)
|
|
|
|
NM_025114.4(CEP290):c.7113T>C (p.Ala2371=)
|
|
|
|
NM_025114.4(CEP290):c.7119C>T (p.Ser2373=)
|
rs2136623871
|
|
|
NM_025114.4(CEP290):c.711A>G (p.Gln237=)
|
|
|
|
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr)
|
rs540340404
|
|
|
NM_025114.4(CEP290):c.7127del (p.Pro2376fs)
|
|
|
|
NM_025114.4(CEP290):c.7129+10T>C
|
rs2136623387
|
|
|
NM_025114.4(CEP290):c.7129+13A>T
|
|
|
|
NM_025114.4(CEP290):c.7129+18dup
|
|
|
|
NM_025114.4(CEP290):c.7129+20A>G
|
|
|
|
NM_025114.4(CEP290):c.7129+20_7129+21del
|
|
|
|
NM_025114.4(CEP290):c.7129+8A>G
|
rs2136623486
|
|
|
NM_025114.4(CEP290):c.7129+9T>G
|
|
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
|
NM_025114.4(CEP290):c.7130-18G>A
|
|
|
|
NM_025114.4(CEP290):c.7130-18G>C
|
rs1258894576
|
|
|
NM_025114.4(CEP290):c.7130-1G>A
|
|
|
|
NM_025114.4(CEP290):c.7130-6C>G
|
|
|
|
NM_025114.4(CEP290):c.7130-6C>T
|
rs1267739576
|
|
|
NM_025114.4(CEP290):c.7130-8_7130-7del
|
rs1555193620
|
|
|
NM_025114.4(CEP290):c.7134T>C (p.Ala2378=)
|
|
|
|
NM_025114.4(CEP290):c.713A>C (p.Glu238Ala)
|
rs2138086785
|
|
|
NM_025114.4(CEP290):c.7143A>G (p.Leu2381=)
|
|
|
|
NM_025114.4(CEP290):c.7150A>G (p.Lys2384Glu)
|
|
|
|
NM_025114.4(CEP290):c.7153A>G (p.Ile2385Val)
|
|
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
|
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
|
|
|
|
NM_025114.4(CEP290):c.7161T>C (p.Asp2387=)
|
rs1419407850
|
|
|
NM_025114.4(CEP290):c.7162C>T (p.Leu2388=)
|
|
|
|
NM_025114.4(CEP290):c.7171_7172del (p.Gln2391fs)
|
rs768864797
|
|
|
NM_025114.4(CEP290):c.7173G>A (p.Gln2391=)
|
|
|
|
NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe)
|
|
|
|
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
|
|
|
|
NM_025114.4(CEP290):c.7176C>A (p.Leu2392=)
|
|
|
|
NM_025114.4(CEP290):c.7179A>G (p.Lys2393=)
|
rs2136564522
|
|
|
NM_025114.4(CEP290):c.7186G>C (p.Asp2396His)
|
|
|
|
NM_025114.4(CEP290):c.7188T>C (p.Asp2396=)
|
rs1373327829
|
|
|
NM_025114.4(CEP290):c.718A>T (p.Arg240Ter)
|
|
|
|
NM_025114.4(CEP290):c.7191A>C (p.Leu2397=)
|
|
|
|
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)
|
rs1478582091
|
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
|
NM_025114.4(CEP290):c.7209+11_7209+16del
|
rs1480154927
|
|
|
NM_025114.4(CEP290):c.7209+1G>A
|
|
|
|
NM_025114.4(CEP290):c.7209+7T>C
|
rs745813087
|
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
|
NM_025114.4(CEP290):c.7209+7_7209+10del
|
|
|
|
NM_025114.4(CEP290):c.7209+9_7209+13del
|
|
|
|
NM_025114.4(CEP290):c.7210-14_7210-12dup
|
|
|
|
NM_025114.4(CEP290):c.7210-18_7210-13del
|
rs753383814
|
|
|
NM_025114.4(CEP290):c.7210-3T>G
|
|
|
|
NM_025114.4(CEP290):c.7212G>A (p.Glu2404=)
|
rs1592705118
|
|
|
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)
|
rs763762899
|
|
|
NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)
|
|
|
|
NM_025114.4(CEP290):c.7233A>G (p.Lys2411=)
|
|
|
|
NM_025114.4(CEP290):c.7233del (p.Glu2412fs)
|
rs2033254449
|
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
|
NM_025114.4(CEP290):c.7237C>A (p.Leu2413Met)
|
rs2136547632
|
|
|
NM_025114.4(CEP290):c.7239G>C (p.Leu2413=)
|
rs2136547545
|
|
|
NM_025114.4(CEP290):c.7243A>G (p.Asn2415Asp)
|
|
|
|
NM_025114.4(CEP290):c.7251T>C (p.Asp2417=)
|
rs2136547270
|
|
|
NM_025114.4(CEP290):c.7256C>T (p.Ser2419Leu)
|
rs2136547201
|
|
|
NM_025114.4(CEP290):c.7257A>C (p.Ser2419=)
|
|
|
|
NM_025114.4(CEP290):c.725dup (p.Asn242fs)
|
|
|
|
NM_025114.4(CEP290):c.7263del (p.Phe2421fs)
|
|
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
|
NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter)
|
rs2136547054
|
|
|
NM_025114.4(CEP290):c.7275A>G (p.Glu2425=)
|
rs2136546932
|
|
|
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile)
|
|
|
|
NM_025114.4(CEP290):c.7282_7284dup (p.Lys2428_Tyr2429insLys)
|
|
|
|
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)
|
rs2136546576
|
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
|
NM_025114.4(CEP290):c.7284G>A (p.Lys2428=)
|
|
|
|
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs)
|
rs1482471100
|
|
|
NM_025114.4(CEP290):c.7289_7292dup (p.Tyr2431Ter)
|
rs2136546348
|
|
|
NM_025114.4(CEP290):c.729A>G (p.Leu243=)
|
rs1349591192
|
|
|
NM_025114.4(CEP290):c.7303G>A (p.Val2435Met)
|
rs2136546112
|
|
|
NM_025114.4(CEP290):c.7305G>C (p.Val2435=)
|
|
|
|
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)
|
rs768777116
|
|
|
NM_025114.4(CEP290):c.7305GAA[4] (p.Lys2437_Asn2438insLys)
|
|
|
|
NM_025114.4(CEP290):c.7308G>A (p.Lys2436=)
|
rs2136545903
|
|
|
NM_025114.4(CEP290):c.730G>T (p.Glu244Ter)
|
rs2138086329
|
|
|
NM_025114.4(CEP290):c.7316T>C (p.Ile2439Thr)
|
|
|
|
NM_025114.4(CEP290):c.7317T>A (p.Ile2439=)
|
|
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
|
NM_025114.4(CEP290):c.7329G>A (p.Glu2443=)
|
rs1592704594
|
|
|
NM_025114.4(CEP290):c.732A>G (p.Glu244=)
|
rs2138086280
|
|
|
NM_025114.4(CEP290):c.7331del (p.Lys2444fs)
|
|
|
|
NM_025114.4(CEP290):c.7335A>C (p.Val2445=)
|
|
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
|
NM_025114.4(CEP290):c.7347A>G (p.Ser2449=)
|
|
|
|
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)
|
rs1592671672
|
|
|
NM_025114.4(CEP290):c.7354T>C (p.Leu2452=)
|
rs2136544711
|
|
|
NM_025114.4(CEP290):c.7358_7359delinsAG (p.Gly2453Glu)
|
|
|
|
NM_025114.4(CEP290):c.7366T>C (p.Leu2456=)
|
|
|
|
NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile)
|
rs2033234687
|
|
|
NM_025114.4(CEP290):c.7374C>T (p.Ser2458=)
|
|
|
|
NM_025114.4(CEP290):c.737_738del (p.Ser246fs)
|
rs2039957886
|
|
|
NM_025114.4(CEP290):c.7380T>A (p.Val2460=)
|
|
|
|
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del)
|
rs1345322609
|
|
|
NM_025114.4(CEP290):c.7386T>G (p.Ala2462=)
|
|
|
|
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs)
|
rs757255407
|
|
|
NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu)
|
|
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
|
NM_025114.4(CEP290):c.7394_7397dup (p.Phe2466fs)
|
|
|
|
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser)
|
rs1159836808
|
|
|
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del)
|
rs777398895
|
|
|
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)
|
|
|
|
NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs)
|
rs1368325179
|
|
|
NM_025114.4(CEP290):c.7416T>C (p.Ser2472=)
|
|
|
|
NM_025114.4(CEP290):c.741A>G (p.Val247=)
|
rs2138085914
|
|
|
NM_025114.4(CEP290):c.7422T>C (p.Val2474=)
|
|
|
|
NM_025114.4(CEP290):c.7425T>C (p.Asn2475=)
|
rs2136543130
|
|
|
NM_025114.4(CEP290):c.742C>T (p.Gln248Ter)
|
rs2138085855
|
|
|
NM_025114.4(CEP290):c.7430C>G (p.Pro2477Arg)
|
rs2033224468
|
|
|
NM_025114.4(CEP290):c.7437C>T (p.Tyr2479=)
|
rs2136542833
|
|
|
NM_025114.4(CEP290):c.74C>T (p.Ala25Val)
|
|
|
|
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp)
|
rs2039957080
|
|
|
NM_025114.4(CEP290):c.758_760del (p.Met253del)
|
rs2039956756
|
|
|
NM_025114.4(CEP290):c.75A>G (p.Ala25=)
|
rs2138304637
|
|
|
NM_025114.4(CEP290):c.768A>G (p.Glu256=)
|
|
|
|
NM_025114.4(CEP290):c.78T>G (p.Asp26Glu)
|
|
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
|
NM_025114.4(CEP290):c.792G>A (p.Val264=)
|
|
|
|
NM_025114.4(CEP290):c.794A>G (p.His265Arg)
|
rs902444632
|
|
|
NM_025114.4(CEP290):c.802_803del (p.Thr267_Asp268insTer)
|
|
|
|
NM_025114.4(CEP290):c.810A>G (p.Val270=)
|
|
|
|
NM_025114.4(CEP290):c.816T>C (p.Asp272=)
|
|
|
|
NM_025114.4(CEP290):c.816del (p.Gln273fs)
|
|
|
|
NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)
|
|
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
|
NM_025114.4(CEP290):c.832_852+19del
|
rs2138082472
|
|
|
NM_025114.4(CEP290):c.833_836dup (p.Asp279fs)
|
rs1489175048
|
|
|
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr)
|
rs796540607
|
|
|
NM_025114.4(CEP290):c.836A>T (p.Asp279Val)
|
|
|
|
NM_025114.4(CEP290):c.837T>C (p.Asp279=)
|
|
|
|
NM_025114.4(CEP290):c.839A>G (p.His280Arg)
|
|
|
|
NM_025114.4(CEP290):c.843_845del (p.Tyr281_Gln282delinsTer)
|
rs2138083048
|
|
|
NM_025114.4(CEP290):c.846A>G (p.Gln282=)
|
|
|
|
NM_025114.4(CEP290):c.84del (p.Leu28fs)
|
|
|
|
NM_025114.4(CEP290):c.850C>G (p.Gln284Glu)
|
|
|
|
NM_025114.4(CEP290):c.850C>T (p.Gln284Ter)
|
|
|
|
NM_025114.4(CEP290):c.852+10A>C
|
rs1191374264
|
|
|
NM_025114.4(CEP290):c.852+10A>G
|
rs1191374264
|
|
|
NM_025114.4(CEP290):c.852+11C>A
|
|
|
|
NM_025114.4(CEP290):c.852+16A>G
|
rs2138082584
|
|
|
NM_025114.4(CEP290):c.852+17G>A
|
|
|
|
NM_025114.4(CEP290):c.852+7A>G
|
|
|
|
NM_025114.4(CEP290):c.852A>T (p.Gln284His)
|
rs1592671091
|
|
|
NM_025114.4(CEP290):c.853-10del
|
rs201265955
|
|
|
NM_025114.4(CEP290):c.853-11T>G
|
|
|
|
NM_025114.4(CEP290):c.853-11_853-10insC
|
|
|
|
NM_025114.4(CEP290):c.853-12_853-11insA
|
|
|
|
NM_025114.4(CEP290):c.853-14del
|
|
|
|
NM_025114.4(CEP290):c.853-16T>C
|
|
|
|
NM_025114.4(CEP290):c.853-18A>C
|
rs2138072197
|
|
|
NM_025114.4(CEP290):c.853-20G>C
|
rs1565913252
|
|
|
NM_025114.4(CEP290):c.853-2A>G
|
|
|
|
NM_025114.4(CEP290):c.853-2A>T
|
|
|
|
NM_025114.4(CEP290):c.853-7C>A
|
rs2138071676
|
|
|
NM_025114.4(CEP290):c.853G>A (p.Val285Met)
|
|
|
|
NM_025114.4(CEP290):c.854T>G (p.Val285Gly)
|
|
|
|
NM_025114.4(CEP290):c.858G>A (p.Gln286=)
|
|
|
|
NM_025114.4(CEP290):c.864T>A (p.Leu288=)
|
|
|
|
NM_025114.4(CEP290):c.867A>C (p.Thr289=)
|
rs2138071158
|
|
|
NM_025114.4(CEP290):c.871C>A (p.Leu291Ile)
|
|
|
|
NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)
|
|
|
|
NM_025114.4(CEP290):c.888T>C (p.Asn296=)
|
|
|
|
NM_025114.4(CEP290):c.890A>T (p.Glu297Val)
|
|
|
|
NM_025114.4(CEP290):c.894A>C (p.Glu298Asp)
|
|
|
|
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp)
|
rs2039900054
|
|
|
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn)
|
|
|
|
NM_025114.4(CEP290):c.897T>C (p.Asp299=)
|
|
|
|
NM_025114.4(CEP290):c.898G>A (p.Asp300Asn)
|
|
|
|
NM_025114.4(CEP290):c.916G>T (p.Val306Phe)
|
rs558949569
|
|
|
NM_025114.4(CEP290):c.918C>T (p.Val306=)
|
rs1592668759
|
|
|
NM_025114.4(CEP290):c.93C>G (p.Ser31=)
|
rs375955381
|
|
|
NM_025114.4(CEP290):c.942+11del
|
|
|
|
NM_025114.4(CEP290):c.942+13A>G
|
|
|
|
NM_025114.4(CEP290):c.942+14A>G
|
|
|
|
NM_025114.4(CEP290):c.942+1G>A
|
rs2039897317
|
|
|
NM_025114.4(CEP290):c.942+1G>C
|
rs2039897317
|
|
|
NM_025114.4(CEP290):c.942+4dup
|
rs558914208
|
|
|
NM_025114.4(CEP290):c.943-14G>T
|
|
|
|
NM_025114.4(CEP290):c.943-16T>C
|
|
|
|
NM_025114.4(CEP290):c.943-1G>A
|
rs2138025029
|
|
|
NM_025114.4(CEP290):c.943-1G>C
|
rs2138025029
|
|
|
NM_025114.4(CEP290):c.943-4C>G
|
|
|
|
NM_025114.4(CEP290):c.948T>C (p.Ile316=)
|
rs767967987
|
|
|
NM_025114.4(CEP290):c.948T>G (p.Ile316Met)
|
rs767967987
|
|
|
NM_025114.4(CEP290):c.955del (p.Ser319fs)
|
rs764507012
|
|
|
NM_025114.4(CEP290):c.961G>A (p.Asp321Asn)
|
rs2138024512
|
|
|
NM_025114.4(CEP290):c.962A>T (p.Asp321Val)
|
|
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
|
NM_025114.4(CEP290):c.964G>A (p.Asp322Asn)
|
rs536127246
|
|
|
NM_025114.4(CEP290):c.966T>C (p.Asp322=)
|
rs762450740
|
|
|
NM_025114.4(CEP290):c.976_979del (p.Glu326fs)
|
|
|
|
NM_025114.4(CEP290):c.983A>C (p.Gln328Pro)
|
|
|
|
NM_025114.4(CEP290):c.985C>T (p.Gln329Ter)
|
rs2138023519
|
|
|
NM_025114.4(CEP290):c.993A>G (p.Leu331=)
|
|
|
|
NM_025114.4(CEP290):c.994C>T (p.His332Tyr)
|
|
|
|
NM_025114.4(CEP290):c.99C>T (p.Ser33=)
|
rs866917306
|
|
|
NM_030578.4(B9D2):c.115G>A (p.Val39Met)
|
rs761158280
|
|
|
NM_030578.4(B9D2):c.131C>T (p.Thr44Met)
|
|
|
|
NM_030578.4(B9D2):c.132G>A (p.Thr44=)
|
|
|
|
NM_030578.4(B9D2):c.156_163del (p.Asp53fs)
|
rs786204189
|
|
|
NM_030578.4(B9D2):c.157G>T (p.Asp53Tyr)
|
rs746928334
|
|
|
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn)
|
rs1555756363
|
|
|
NM_030578.4(B9D2):c.186C>T (p.Asp62=)
|
|
|
|
NM_030578.4(B9D2):c.238G>A (p.Val80Met)
|
rs760432560
|
|
|
NM_030578.4(B9D2):c.307C>T (p.Pro103Ser)
|
|
|
|
NM_030578.4(B9D2):c.346C>T (p.Leu116=)
|
rs1555755825
|
|
|
NM_030578.4(B9D2):c.432C>T (p.Ala144=)
|
|
|
|
NM_030578.4(B9D2):c.484G>A (p.Gly162Ser)
|
|
|
|
NM_030578.4(B9D2):c.508C>G (p.Arg170Gly)
|
rs371315485
|
|
|
NM_030578.4(B9D2):c.508C>T (p.Arg170Cys)
|
|
|
|
NM_030578.4(B9D2):c.509G>A (p.Arg170His)
|
|
|
|
NM_030578.4(B9D2):c.516C>T (p.Gly172=)
|
|
|
|
NM_030578.4(B9D2):c.88+17G>C
|
|
|
|
NM_153704.6(TMEM67):c.1002T>A (p.Ala334=)
|
|
|
|
NM_153704.6(TMEM67):c.1026T>C (p.Asn342=)
|
|
|
|
NM_153704.6(TMEM67):c.1030C>T (p.Leu344Phe)
|
rs2130668790
|
|
|
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys)
|
rs754370463
|
|
|
NM_153704.6(TMEM67):c.1048G>A (p.Glu350Lys)
|
|
|
|
NM_153704.6(TMEM67):c.1050A>C (p.Glu350Asp)
|
rs1813838328
|
|
|
NM_153704.6(TMEM67):c.1065+12T>A
|
|
|
|
NM_153704.6(TMEM67):c.1065+12T>G
|
|
|
|
NM_153704.6(TMEM67):c.1065+17T>G
|
rs2130669162
|
|
|
NM_153704.6(TMEM67):c.1065+3A>C
|
|
|
|
NM_153704.6(TMEM67):c.1065+7A>G
|
|
|
|
NM_153704.6(TMEM67):c.1065+9G>A
|
|
|
|
NM_153704.6(TMEM67):c.1066-16T>C
|
|
|
|
NM_153704.6(TMEM67):c.1066-1G>A
|
|
|
|
NM_153704.6(TMEM67):c.1066-4G>A
|
|
|
|
NM_153704.6(TMEM67):c.1066-4_1066-3delinsAT
|
|
|
|
NM_153704.6(TMEM67):c.1066-7G>A
|
rs978443277
|
|
|
NM_153704.6(TMEM67):c.1066-7G>T
|
|
|
|
NM_153704.6(TMEM67):c.108C>G (p.Ala36=)
|
rs2130522054
|
|
|
NM_153704.6(TMEM67):c.1093A>G (p.Asn365Asp)
|
|
|
|
NM_153704.6(TMEM67):c.1101T>C (p.Ala367=)
|
|
|
|
NM_153704.6(TMEM67):c.1101T>G (p.Ala367=)
|
|
|
|
NM_153704.6(TMEM67):c.1102T>A (p.Tyr368Asn)
|
|
|
|
NM_153704.6(TMEM67):c.1104T>C (p.Tyr368=)
|
|
|
|
NM_153704.6(TMEM67):c.1107A>G (p.Ser369=)
|
|
|
|
NM_153704.6(TMEM67):c.1121A>G (p.Tyr374Cys)
|
|
|
|
NM_153704.6(TMEM67):c.1130del (p.Asn377fs)
|
|
|
|
NM_153704.6(TMEM67):c.1131+12C>T
|
|
|
|
NM_153704.6(TMEM67):c.1131+13G>A
|
|
|
|
NM_153704.6(TMEM67):c.1131+16A>G
|
|
|
|
NM_153704.6(TMEM67):c.1131+3A>G
|
|
|
|
NM_153704.6(TMEM67):c.1131+9G>A
|
rs1813883065
|
|
|
NM_153704.6(TMEM67):c.1132-14_1132-9del
|
rs2130685786
|
|
|
NM_153704.6(TMEM67):c.1132-16T>C
|
|
|
|
NM_153704.6(TMEM67):c.1132-19T>G
|
|
|
|
NM_153704.6(TMEM67):c.1132-1G>T
|
|
|
|
NM_153704.6(TMEM67):c.1132-2A>G
|
|
|
|
NM_153704.6(TMEM67):c.1132-2_1132-1insAAAA
|
|
|
|
NM_153704.6(TMEM67):c.1143T>C (p.Pro381=)
|
|
|
|
NM_153704.6(TMEM67):c.114C>T (p.Thr38=)
|
|
|
|
NM_153704.6(TMEM67):c.1159A>G (p.Ile387Val)
|
|
|
|
NM_153704.6(TMEM67):c.1160T>G (p.Ile387Ser)
|
|
|
|
NM_153704.6(TMEM67):c.1195C>T (p.Leu399Phe)
|
|
|
|
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup)
|
rs886063171
|
|
|
NM_153704.6(TMEM67):c.1203T>C (p.Tyr401=)
|
rs1814042818
|
|
|
NM_153704.6(TMEM67):c.1220A>G (p.His407Arg)
|
rs777641401
|
|
|
NM_153704.6(TMEM67):c.1220A>T (p.His407Leu)
|
|
|
|
NM_153704.6(TMEM67):c.1230T>A (p.Ile410=)
|
|
|
|
NM_153704.6(TMEM67):c.1239G>C (p.Val413=)
|
|
|
|
NM_153704.6(TMEM67):c.1239G>T (p.Val413=)
|
|
|
|
NM_153704.6(TMEM67):c.123C>G (p.Phe41Leu)
|
rs1812503608
|
|
|
NM_153704.6(TMEM67):c.1247T>A (p.Leu416Ter)
|
|
|
|
NM_153704.6(TMEM67):c.124C>G (p.Pro42Ala)
|
|
|
|
NM_153704.6(TMEM67):c.1263A>G (p.Gln421=)
|
|
|
|
NM_153704.6(TMEM67):c.1264C>T (p.His422Tyr)
|
|
|
|
NM_153704.6(TMEM67):c.1269T>C (p.Asn423=)
|
|
|
|
NM_153704.6(TMEM67):c.1271A>C (p.Lys424Thr)
|
rs2130686722
|
|
|
NM_153704.6(TMEM67):c.1285C>T (p.Gln429Ter)
|
|
|
|
NM_153704.6(TMEM67):c.1287A>G (p.Gln429=)
|
|
|
|
NM_153704.6(TMEM67):c.1288+10C>G
|
|
|
|
NM_153704.6(TMEM67):c.1288+14A>G
|
rs1458179636
|
|
|
NM_153704.6(TMEM67):c.1288+15C>T
|
rs1057523004
|
|
|
NM_153704.6(TMEM67):c.1288+15del
|
|
|
|
NM_153704.6(TMEM67):c.1288+1G>A
|
|
|
|
NM_153704.6(TMEM67):c.1288+9T>A
|
|
|
|
NM_153704.6(TMEM67):c.1288+9T>C
|
|
|
|
NM_153704.6(TMEM67):c.1289-16_1289-12del
|
|
|
|
NM_153704.6(TMEM67):c.1289-19T>C
|
|
|
|
NM_153704.6(TMEM67):c.1289-20T>C
|
|
|
|
NM_153704.6(TMEM67):c.1289-6T>C
|
rs746707583
|
|
|
NM_153704.6(TMEM67):c.1289-8A>G
|
|
|
|
NM_153704.6(TMEM67):c.1289-8A>T
|
|
|
|
NM_153704.6(TMEM67):c.1299T>G (p.Ser433=)
|
|
|
|
NM_153704.6(TMEM67):c.1312C>T (p.Leu438=)
|
|
|
|
NM_153704.6(TMEM67):c.1316C>A (p.Thr439Asn)
|
|
|
|
NM_153704.6(TMEM67):c.1317T>A (p.Thr439=)
|
rs1814090920
|
|
|
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)
|
rs386834183
|
|
|
NM_153704.6(TMEM67):c.1333G>C (p.Val445Leu)
|
rs1174323452
|
|
|
NM_153704.6(TMEM67):c.1338T>G (p.Asp446Glu)
|
|
|
|
NM_153704.6(TMEM67):c.1338_1350del (p.Ala447fs)
|
rs2130690833
|
|
|
NM_153704.6(TMEM67):c.1371T>C (p.Thr457=)
|
|
|
|
NM_153704.6(TMEM67):c.1373dup (p.Pro459fs)
|
rs1586051330
|
|
|
NM_153704.6(TMEM67):c.1376C>A (p.Pro459Gln)
|
|
|
|
NM_153704.6(TMEM67):c.1377A>G (p.Pro459=)
|
|
|
|
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln)
|
rs199708882
|
|
|
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu)
|
rs199708882
|
|
|
NM_153704.6(TMEM67):c.1381G>A (p.Val461Ile)
|
rs1036689562
|
|
|
NM_153704.6(TMEM67):c.1386T>A (p.Ile462=)
|
|
|
|
NM_153704.6(TMEM67):c.1398T>G (p.Thr466=)
|
|
|
|
NM_153704.6(TMEM67):c.13G>T (p.Gly5Cys)
|
|
|
|
NM_153704.6(TMEM67):c.1412+10T>C
|
|
|
|
NM_153704.6(TMEM67):c.1412+12T>C
|
|
|
|
NM_153704.6(TMEM67):c.1412+13C>T
|
|
|
|
NM_153704.6(TMEM67):c.1412+16A>G
|
|
|
|
NM_153704.6(TMEM67):c.1413-1G>A
|
|
|
|
NM_153704.6(TMEM67):c.1413-1G>C
|
rs386834185
|
|
|
NM_153704.6(TMEM67):c.1413-6A>G
|
|
|
|
NM_153704.6(TMEM67):c.1422T>C (p.Leu474=)
|
|
|
|
NM_153704.6(TMEM67):c.1433C>T (p.Thr478Ile)
|
|
|
|
NM_153704.6(TMEM67):c.1447A>G (p.Ile483Val)
|
|
|
|
NM_153704.6(TMEM67):c.1452C>T (p.Tyr484=)
|
|
|
|
NM_153704.6(TMEM67):c.145T>A (p.Cys49Ser)
|
|
|
|
NM_153704.6(TMEM67):c.1473C>G (p.Ala491=)
|
|
|
|
NM_153704.6(TMEM67):c.1486G>A (p.Asp496Asn)
|
|
|
|
NM_153704.6(TMEM67):c.148G>A (p.Asp50Asn)
|
rs144253777
|
|
|
NM_153704.6(TMEM67):c.148G>C (p.Asp50His)
|
rs144253777
|
|
|
NM_153704.6(TMEM67):c.148G>T (p.Asp50Tyr)
|
|
|
|
NM_153704.6(TMEM67):c.1506C>T (p.Ser502=)
|
|
|
|
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu)
|
rs1486419446
|
|
|
NM_153704.6(TMEM67):c.1518+15del
|
|
|
|
NM_153704.6(TMEM67):c.1518+20G>T
|
|
|
|
NM_153704.6(TMEM67):c.1518+2T>C
|
|
|
|
NM_153704.6(TMEM67):c.1519-14G>C
|
|
|
|
NM_153704.6(TMEM67):c.1519-1G>A
|
|
|
|
NM_153704.6(TMEM67):c.1519G>T (p.Val507Phe)
|
|
|
|
NM_153704.6(TMEM67):c.151AAC[1] (p.Asn52del)
|
|
|
|
NM_153704.6(TMEM67):c.1529C>T (p.Ser510Leu)
|
rs1814362454
|
|
|
NM_153704.6(TMEM67):c.1530A>G (p.Ser510=)
|
|
|
|
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)
|
rs137853107
|
|
|
NM_153704.6(TMEM67):c.1544T>C (p.Met515Thr)
|
rs1329676384
|
|
|
NM_153704.6(TMEM67):c.1549C>G (p.His517Asp)
|
|
|
|
NM_153704.6(TMEM67):c.1559C>T (p.Ala520Val)
|
rs2130711278
|
|
|
NM_153704.6(TMEM67):c.1575+15A>G
|
|
|
|
NM_153704.6(TMEM67):c.1575+16C>T
|
rs2130711471
|
|
|
NM_153704.6(TMEM67):c.1575+6T>G
|
rs2130711420
|
|
|
NM_153704.6(TMEM67):c.1575+9A>G
|
|
|
|
NM_153704.6(TMEM67):c.1576-10T>C
|
|
|
|
NM_153704.6(TMEM67):c.1576-19T>C
|
|
|
|
NM_153704.6(TMEM67):c.1576-1G>A
|
|
|
|
NM_153704.6(TMEM67):c.1576-20A>G
|
rs1397119713
|
|
|
NM_153704.6(TMEM67):c.1576-2del
|
|
|
|
NM_153704.6(TMEM67):c.1576-7T>C
|
rs767939125
|
|
|
NM_153704.6(TMEM67):c.1576-7T>G
|
|
|
|
NM_153704.6(TMEM67):c.1576-9G>C
|
|
|
|
NM_153704.6(TMEM67):c.157C>T (p.Gln53Ter)
|
|
|
|
NM_153704.6(TMEM67):c.1580C>T (p.Ala527Val)
|
|
|
|
NM_153704.6(TMEM67):c.1584G>C (p.Leu528Phe)
|
rs1340120220
|
|
|
NM_153704.6(TMEM67):c.1589T>C (p.Val530Ala)
|
|
|
|
NM_153704.6(TMEM67):c.158A>G (p.Gln53Arg)
|
|
|
|
NM_153704.6(TMEM67):c.1594G>T (p.Gly532Cys)
|
|
|
|
NM_153704.6(TMEM67):c.1599G>A (p.Gly533=)
|
|
|
|
NM_153704.6(TMEM67):c.159G>A (p.Gln53=)
|
|
|
|
NM_153704.6(TMEM67):c.159G>C (p.Gln53His)
|
|
|
|
NM_153704.6(TMEM67):c.15T>G (p.Gly5=)
|
|
|
|
NM_153704.6(TMEM67):c.1600C>T (p.Leu534=)
|
|
|
|
NM_153704.6(TMEM67):c.1605T>C (p.Ala535=)
|
|
|
|
NM_153704.6(TMEM67):c.161_188del (p.Tyr54fs)
|
|
|
|
NM_153704.6(TMEM67):c.1620T>G (p.Leu540=)
|
|
|
|
NM_153704.6(TMEM67):c.1621T>C (p.Leu541=)
|
|
|
|
NM_153704.6(TMEM67):c.1621_1622del (p.Leu541fs)
|
|
|
|
NM_153704.6(TMEM67):c.1628C>T (p.Thr543Ile)
|
|
|
|
NM_153704.6(TMEM67):c.1638G>A (p.Trp546Ter)
|
rs2130719312
|
|
|
NM_153704.6(TMEM67):c.1638del (p.Gly545_Trp546insTer)
|
rs2130719298
|
|
|
NM_153704.6(TMEM67):c.1641G>A (p.Lys547=)
|
|
|
|
NM_153704.6(TMEM67):c.1645C>A (p.Arg549Ser)
|
|
|
|
NM_153704.6(TMEM67):c.1652G>A (p.Gly551Glu)
|
rs2130719408
|
|
|
NM_153704.6(TMEM67):c.1661T>C (p.Met554Thr)
|
|
|
|
NM_153704.6(TMEM67):c.1662G>T (p.Met554Ile)
|
rs184632089
|
|
|
NM_153704.6(TMEM67):c.1669T>C (p.Leu557=)
|
|
|
|
NM_153704.6(TMEM67):c.1671A>G (p.Leu557=)
|
|
|
|
NM_153704.6(TMEM67):c.1674+12G>A
|
|
|
|
NM_153704.6(TMEM67):c.1674+17T>G
|
|
|
|
NM_153704.6(TMEM67):c.1674+1G>A
|
rs1211156516
|
|
|
NM_153704.6(TMEM67):c.1674+3A>G
|
rs863225224
|
|
|
NM_153704.6(TMEM67):c.1674+5A>G
|
|
|
|
NM_153704.6(TMEM67):c.1674+5A>T
|
rs863224813
|
|
|
NM_153704.6(TMEM67):c.1675-10dup
|
rs752404927
|
|
|
NM_153704.6(TMEM67):c.1675-18C>T
|
|
|
|
NM_153704.6(TMEM67):c.1675-1G>T
|
|
|
|
NM_153704.6(TMEM67):c.1675-6T>C
|
|
|
|
NM_153704.6(TMEM67):c.1675-8A>T
|
|
|
|
NM_153704.6(TMEM67):c.167A>G (p.Asp56Gly)
|
rs1812506710
|
|
|
NM_153704.6(TMEM67):c.167A>T (p.Asp56Val)
|
|
|
|
NM_153704.6(TMEM67):c.1690T>C (p.Leu564=)
|
rs950429653
|
|
|
NM_153704.6(TMEM67):c.1697A>G (p.Tyr566Cys)
|
|
|
|
NM_153704.6(TMEM67):c.1701T>C (p.Tyr567=)
|
|
|
|
NM_153704.6(TMEM67):c.1704dup (p.Gly569fs)
|
|
|
|
NM_153704.6(TMEM67):c.1730_1733del (p.Ile577fs)
|
|
|
|
NM_153704.6(TMEM67):c.1732A>G (p.Ile578Val)
|
rs2130727646
|
|
|
NM_153704.6(TMEM67):c.1740G>A (p.Val580=)
|
|
|
|
NM_153704.6(TMEM67):c.1749T>C (p.Gly583=)
|
|
|
|
NM_153704.6(TMEM67):c.174C>T (p.Ser58=)
|
|
|
|
NM_153704.6(TMEM67):c.1758G>T (p.Trp586Cys)
|
rs1814570287
|
|
|
NM_153704.6(TMEM67):c.1765T>C (p.Phe589Leu)
|
|
|
|
NM_153704.6(TMEM67):c.1773+13C>T
|
|
|
|
NM_153704.6(TMEM67):c.1773+17A>G
|
|
|
|
NM_153704.6(TMEM67):c.1773A>C (p.Lys591Asn)
|
rs2130727915
|
|
|
NM_153704.6(TMEM67):c.1774-19C>G
|
|
|
|
NM_153704.6(TMEM67):c.1774-4A>G
|
|
|
|
NM_153704.6(TMEM67):c.1774-6_1774-3inv
|
|
|
|
NM_153704.6(TMEM67):c.1774-7A>T
|
|
|
|
NM_153704.6(TMEM67):c.1775C>G (p.Ala592Gly)
|
|
|
|
NM_153704.6(TMEM67):c.177C>A (p.Ala59=)
|
|
|
|
NM_153704.6(TMEM67):c.177C>T (p.Ala59=)
|
|
|
|
NM_153704.6(TMEM67):c.1783T>C (p.Ser595Pro)
|
|
|
|
NM_153704.6(TMEM67):c.1785T>C (p.Ser595=)
|
|
|
|
NM_153704.6(TMEM67):c.1785T>G (p.Ser595=)
|
|
|
|
NM_153704.6(TMEM67):c.1786G>C (p.Val596Leu)
|
|
|
|
NM_153704.6(TMEM67):c.1786G>T (p.Val596Leu)
|
rs778478057
|
|
|
NM_153704.6(TMEM67):c.1788_1789del (p.Ser597fs)
|
|
|
|
NM_153704.6(TMEM67):c.1806G>A (p.Met602Ile)
|
|
|
|
NM_153704.6(TMEM67):c.180C>T (p.Leu60=)
|
|
|
|
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly)
|
rs142283122
|
|
|
NM_153704.6(TMEM67):c.1825T>C (p.Phe609Leu)
|
|
|
|
NM_153704.6(TMEM67):c.182C>G (p.Ser61Trp)
|
|
|
|
NM_153704.6(TMEM67):c.1830C>G (p.Val610=)
|
|
|
|
NM_153704.6(TMEM67):c.1830C>T (p.Val610=)
|
|
|
|
NM_153704.6(TMEM67):c.1832C>T (p.Thr611Ile)
|
|
|
|
NM_153704.6(TMEM67):c.1833_1834del (p.Tyr612fs)
|
|
|
|
NM_153704.6(TMEM67):c.1842A>G (p.Gly614=)
|
|
|
|
NM_153704.6(TMEM67):c.1860+10A>G
|
|
|
|
NM_153704.6(TMEM67):c.1860+14G>A
|
|
|
|
NM_153704.6(TMEM67):c.1860+16C>G
|
|
|
|
NM_153704.6(TMEM67):c.1860+17A>G
|
|
|
|
NM_153704.6(TMEM67):c.1860+19G>T
|
rs373634556
|
|
|
NM_153704.6(TMEM67):c.1860+8T>C
|
|
|
|
NM_153704.6(TMEM67):c.1861-13A>G
|
|
|
|
NM_153704.6(TMEM67):c.1861-16T>C
|
|
|
|
NM_153704.6(TMEM67):c.1861-18A>G
|
|
|
|
NM_153704.6(TMEM67):c.1861-1G>A
|
|
|
|
NM_153704.6(TMEM67):c.1864C>T (p.Leu622=)
|
|
|
|
NM_153704.6(TMEM67):c.1893G>C (p.Gln631His)
|
|
|
|
NM_153704.6(TMEM67):c.18G>C (p.Gly6=)
|
rs1812494244
|
|
|
NM_153704.6(TMEM67):c.1906G>T (p.Val636Leu)
|
|
|
|
NM_153704.6(TMEM67):c.1911C>T (p.Phe637=)
|
rs863225225
|
|
|
NM_153704.6(TMEM67):c.1913T>A (p.Phe638Tyr)
|
rs2130734310
|
|
|
NM_153704.6(TMEM67):c.1913T>C (p.Phe638Ser)
|
|
|
|
NM_153704.6(TMEM67):c.1926G>A (p.Glu642=)
|
|
|
|
NM_153704.6(TMEM67):c.1942G>A (p.Val648Ile)
|
rs764882441
|
|
|
NM_153704.6(TMEM67):c.1942_1951del (p.Val648fs)
|
|
|
|
NM_153704.6(TMEM67):c.1956T>G (p.Val652=)
|
rs2130734693
|
|
|
NM_153704.6(TMEM67):c.1960+17dup
|
rs1475466139
|
|
|
NM_153704.6(TMEM67):c.1960+9A>T
|
|
|
|
NM_153704.6(TMEM67):c.1961-3C>T
|
|
|
|
NM_153704.6(TMEM67):c.1961-7T>A
|
rs1563472215
|
|
|
NM_153704.6(TMEM67):c.1963G>A (p.Glu655Lys)
|
|
|
|
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
|
|
|
|
NM_153704.6(TMEM67):c.1968_1969del (p.Gly657fs)
|
|
|
|
NM_153704.6(TMEM67):c.1977A>C (p.Arg659=)
|
|
|
|
NM_153704.6(TMEM67):c.1987_1988del (p.Val663fs)
|
|
|
|
NM_153704.6(TMEM67):c.2001A>G (p.Ile667Met)
|
|
|
|
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=)
|
rs137989705
|
|
|
NM_153704.6(TMEM67):c.2010A>T (p.Thr670=)
|
rs137989705
|
|
|
NM_153704.6(TMEM67):c.2016T>C (p.Phe672=)
|
|
|
|
NM_153704.6(TMEM67):c.2018T>C (p.Val673Ala)
|
|
|
|
NM_153704.6(TMEM67):c.2036A>G (p.Glu679Gly)
|
|
|
|
NM_153704.6(TMEM67):c.2042A>G (p.Gln681Arg)
|
|
|
|
NM_153704.6(TMEM67):c.2043G>T (p.Gln681His)
|
|
|
|
NM_153704.6(TMEM67):c.2065C>G (p.Leu689Val)
|
rs576166051
|
|
|
NM_153704.6(TMEM67):c.2069_2070del (p.Phe690fs)
|
|
|
|
NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val)
|
rs863225238
|
|
|
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)
|
rs863225238
|
|
|
NM_153704.6(TMEM67):c.2087T>C (p.Leu696Pro)
|
rs2130735817
|
|
|
NM_153704.6(TMEM67):c.2089T>C (p.Phe697Leu)
|
|
|
|
NM_153704.6(TMEM67):c.2100+11_2100+14del
|
|
|
|
NM_153704.6(TMEM67):c.2100+13T>C
|
|
|
|
NM_153704.6(TMEM67):c.2101-10T>G
|
|
|
|
NM_153704.6(TMEM67):c.2101-13C>A
|
|
|
|
NM_153704.6(TMEM67):c.2101-13C>G
|
|
|
|
NM_153704.6(TMEM67):c.2101-14C>T
|
|
|
|
NM_153704.6(TMEM67):c.2101-20A>C
|
rs369488441
|
|
|
NM_153704.6(TMEM67):c.2101-20A>G
|
|
|
|
NM_153704.6(TMEM67):c.2101-5T>C
|
|
|
|
NM_153704.6(TMEM67):c.2101-8T>C
|
|
|
|
NM_153704.6(TMEM67):c.2103T>G (p.Val701=)
|
|
|
|
NM_153704.6(TMEM67):c.210G>C (p.Arg70Ser)
|
rs2130523134
|
|
|
NM_153704.6(TMEM67):c.2115G>A (p.Lys705=)
|
|
|
|
NM_153704.6(TMEM67):c.2122G>C (p.Ala708Pro)
|
rs149475825
|
|
|
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val)
|
rs112261772
|
|
|
NM_153704.6(TMEM67):c.2135C>T (p.Ser712Leu)
|
|
|
|
NM_153704.6(TMEM67):c.2137TCT[1] (p.Ser715del)
|
|
|
|
NM_153704.6(TMEM67):c.2142T>C (p.Ser714=)
|
|
|
|
NM_153704.6(TMEM67):c.2145T>G (p.Ser715Arg)
|
rs1814779822
|
|
|
NM_153704.6(TMEM67):c.2146C>A (p.Leu716Ile)
|
|
|
|
NM_153704.6(TMEM67):c.2157C>T (p.Asn719=)
|
|
|
|
NM_153704.6(TMEM67):c.2159C>A (p.Pro720Gln)
|
|
|
|
NM_153704.6(TMEM67):c.2160A>G (p.Pro720=)
|
|
|
|
NM_153704.6(TMEM67):c.2163del (p.Ser722fs)
|
|
|
|
NM_153704.6(TMEM67):c.2165G>C (p.Ser722Thr)
|
|
|
|
NM_153704.6(TMEM67):c.2166C>G (p.Ser722Arg)
|
|
|
|
NM_153704.6(TMEM67):c.2166C>T (p.Ser722=)
|
|
|
|
NM_153704.6(TMEM67):c.2167T>C (p.Tyr723His)
|
rs576079013
|
|
|
NM_153704.6(TMEM67):c.2175T>A (p.Ala725=)
|
|
|
|
NM_153704.6(TMEM67):c.217G>A (p.Ala73Thr)
|
|
|
|
NM_153704.6(TMEM67):c.2180A>G (p.Tyr727Cys)
|
|
|
|
NM_153704.6(TMEM67):c.2181T>C (p.Tyr727=)
|
|
|
|
NM_153704.6(TMEM67):c.2184C>T (p.Ser728=)
|
|
|
|
NM_153704.6(TMEM67):c.2202A>G (p.Ala734=)
|
|
|
|
NM_153704.6(TMEM67):c.2214T>A (p.Ala738=)
|
|
|
|
NM_153704.6(TMEM67):c.2223A>G (p.Leu741=)
|
|
|
|
NM_153704.6(TMEM67):c.2226C>A (p.Ala742=)
|
|
|
|
NM_153704.6(TMEM67):c.223+10T>G
|
|
|
|
NM_153704.6(TMEM67):c.223+13G>C
|
|
|
|
NM_153704.6(TMEM67):c.223+15G>A
|
|
|
|
NM_153704.6(TMEM67):c.223+16G>C
|
|
|
|
NM_153704.6(TMEM67):c.223+1G>C
|
|
|
|
NM_153704.6(TMEM67):c.223+7C>T
|
|
|
|
NM_153704.6(TMEM67):c.2239C>T (p.Gln747Ter)
|
|
|
|
NM_153704.6(TMEM67):c.223G>A (p.Gly75Arg)
|
|
|
|
NM_153704.6(TMEM67):c.224-11T>A
|
|
|
|
NM_153704.6(TMEM67):c.224-13_224-3del
|
|
|
|
NM_153704.6(TMEM67):c.224-17T>C
|
|
|
|
NM_153704.6(TMEM67):c.224-20T>C
|
|
|
|
NM_153704.6(TMEM67):c.224-2A>T
|
rs768412278
|
|
|
NM_153704.6(TMEM67):c.224-2dup
|
|
|
|
NM_153704.6(TMEM67):c.224-4_224-3insA
|
|
|
|
NM_153704.6(TMEM67):c.224-7T>C
|
|
|
|
NM_153704.6(TMEM67):c.224-9T>G
|
|
|
|
NM_153704.6(TMEM67):c.2241+12T>C
|
|
|
|
NM_153704.6(TMEM67):c.2241+19A>G
|
|
|
|
NM_153704.6(TMEM67):c.2242-14A>G
|
|
|
|
NM_153704.6(TMEM67):c.2242-8T>C
|
|
|
|
NM_153704.6(TMEM67):c.2242-9A>T
|
|
|
|
NM_153704.6(TMEM67):c.2244C>T (p.Val748=)
|
|
|
|
NM_153704.6(TMEM67):c.2245G>A (p.Val749Met)
|
rs753896569
|
|
|
NM_153704.6(TMEM67):c.2247G>C (p.Val749=)
|
|
|
|
NM_153704.6(TMEM67):c.2263T>C (p.Tyr755His)
|
rs2130757495
|
|
|
NM_153704.6(TMEM67):c.2268G>A (p.Glu756=)
|
|
|
|
NM_153704.6(TMEM67):c.2269A>C (p.Arg757=)
|
|
|
|
NM_153704.6(TMEM67):c.2283T>C (p.Asp761=)
|
|
|
|
NM_153704.6(TMEM67):c.2287A>G (p.Ile763Val)
|
|
|
|
NM_153704.6(TMEM67):c.2295G>A (p.Gln765=)
|
|
|
|
NM_153704.6(TMEM67):c.2298C>G (p.Phe766Leu)
|
rs372104198
|
|
|
NM_153704.6(TMEM67):c.2298C>T (p.Phe766=)
|
rs372104198
|
|
|
NM_153704.6(TMEM67):c.2301T>G (p.Val767=)
|
|
|
|
NM_153704.6(TMEM67):c.2302dup (p.Asp768fs)
|
|
|
|
NM_153704.6(TMEM67):c.2314_2322+4delinsGG
|
rs1064792983
|
|
|
NM_153704.6(TMEM67):c.231A>T (p.Ser77=)
|
|
|
|
NM_153704.6(TMEM67):c.2322+11T>C
|
|
|
|
NM_153704.6(TMEM67):c.2322+11dup
|
rs761531825
|
|
|
NM_153704.6(TMEM67):c.2322+17T>C
|
|
|
|
NM_153704.6(TMEM67):c.2322+18T>G
|
|
|
|
NM_153704.6(TMEM67):c.2322+1G>T
|
|
|
|
NM_153704.6(TMEM67):c.2322+20A>G
|
|
|
|
NM_153704.6(TMEM67):c.2322+4A>C
|
rs1386323468
|
|
|
NM_153704.6(TMEM67):c.2322+7A>G
|
|
|
|
NM_153704.6(TMEM67):c.2323-10C>G
|
|
|
|
NM_153704.6(TMEM67):c.2323-10C>T
|
|
|
|
NM_153704.6(TMEM67):c.2323-4A>G
|
|
|
|
NM_153704.6(TMEM67):c.2323-5_2323-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGAGAGGGAGCGGGCGCCCGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACCTATTCTCTTTTT
|
rs2130763431
|
|
|
NM_153704.6(TMEM67):c.2325A>G (p.Ile775Met)
|
rs777320782
|
|
|
NM_153704.6(TMEM67):c.2326T>G (p.Ser776Ala)
|
|
|
|
NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)
|
|
|
|
NM_153704.6(TMEM67):c.2336T>G (p.Leu779Arg)
|
rs2130763583
|
|
|
NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr)
|
rs1563673490
|
|
|
NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)
|
|
|
|
NM_153704.6(TMEM67):c.2341T>C (p.Ser781Pro)
|
|
|
|
NM_153704.6(TMEM67):c.2343C>G (p.Ser781=)
|
|
|
|
NM_153704.6(TMEM67):c.2343C>T (p.Ser781=)
|
|
|
|
NM_153704.6(TMEM67):c.2347A>G (p.Lys783Glu)
|
|
|
|
NM_153704.6(TMEM67):c.2348A>G (p.Lys783Arg)
|
|
|
|
NM_153704.6(TMEM67):c.2350T>G (p.Cys784Gly)
|
rs2130763694
|
|
|
NM_153704.6(TMEM67):c.2351G>A (p.Cys784Tyr)
|
rs1328212583
|
|
|
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu)
|
rs386834193
|
|
|
NM_153704.6(TMEM67):c.2373T>C (p.Gly791=)
|
rs2130763777
|
|
|
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)
|
rs1815059174
|
|
|
NM_153704.6(TMEM67):c.237A>T (p.Val79=)
|
|
|
|
NM_153704.6(TMEM67):c.2385T>A (p.His795Gln)
|
|
|
|
NM_153704.6(TMEM67):c.2388G>C (p.Gly796=)
|
rs1586083001
|
|
|
NM_153704.6(TMEM67):c.2388G>T (p.Gly796=)
|
|
|
|
NM_153704.6(TMEM67):c.2407G>A (p.Glu803Lys)
|
|
|
|
NM_153704.6(TMEM67):c.2425C>G (p.Leu809Val)
|
|
|
|
NM_153704.6(TMEM67):c.2427T>G (p.Leu809=)
|
|
|
|
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
|
|
|
|
NM_153704.6(TMEM67):c.242_245del (p.Leu81fs)
|
|
|
|
NM_153704.6(TMEM67):c.2439+19del
|
|
|
|
NM_153704.6(TMEM67):c.2439+8A>C
|
|
|
|
NM_153704.6(TMEM67):c.2439+9A>G
|
rs2130764128
|
|
|
NM_153704.6(TMEM67):c.243A>C (p.Leu81=)
|
|
|
|
NM_153704.6(TMEM67):c.2440-13T>C
|
|
|
|
NM_153704.6(TMEM67):c.2440-5T>C
|
rs2130780220
|
|
|
NM_153704.6(TMEM67):c.2440-7T>C
|
|
|
|
NM_153704.6(TMEM67):c.2442A>G (p.Glu814=)
|
|
|
|
NM_153704.6(TMEM67):c.2445T>C (p.Asn815=)
|
|
|
|
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr)
|
rs2130780313
|
|
|
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg)
|
rs772437766
|
|
|
NM_153704.6(TMEM67):c.246A>G (p.Pro82=)
|
|
|
|
NM_153704.6(TMEM67):c.2475C>T (p.Asn825=)
|
|
|
|
NM_153704.6(TMEM67):c.2484T>A (p.Gly828=)
|
|
|
|
NM_153704.6(TMEM67):c.2505T>A (p.Ile835=)
|
|
|
|
NM_153704.6(TMEM67):c.2508T>A (p.Ser836=)
|
|
|
|
NM_153704.6(TMEM67):c.2515A>C (p.Met839Leu)
|
rs1041608878
|
|
|
NM_153704.6(TMEM67):c.2521C>T (p.Gln841Ter)
|
|
|
|
NM_153704.6(TMEM67):c.2532C>T (p.Asp844=)
|
|
|
|
NM_153704.6(TMEM67):c.2538T>C (p.Ile846=)
|
|
|
|
NM_153704.6(TMEM67):c.2544G>A (p.Glu848=)
|
|
|
|
NM_153704.6(TMEM67):c.2556+1G>A
|
|
|
|
NM_153704.6(TMEM67):c.2557-16C>G
|
rs2130781103
|
|
|
NM_153704.6(TMEM67):c.2557-20A>G
|
|
|
|
NM_153704.6(TMEM67):c.2557-5A>G
|
|
|
|
NM_153704.6(TMEM67):c.2565T>C (p.Gly855=)
|
|
|
|
NM_153704.6(TMEM67):c.2576T>A (p.Leu859Gln)
|
|
|
|
NM_153704.6(TMEM67):c.2577A>G (p.Leu859=)
|
|
|
|
NM_153704.6(TMEM67):c.2598T>G (p.Thr866=)
|
|
|
|
NM_153704.6(TMEM67):c.2600T>C (p.Phe867Ser)
|
rs1563481582
|
|
|
NM_153704.6(TMEM67):c.2604G>A (p.Glu868=)
|
|
|
|
NM_153704.6(TMEM67):c.2619A>G (p.Ala873=)
|
|
|
|
NM_153704.6(TMEM67):c.2619A>T (p.Ala873=)
|
|
|
|
NM_153704.6(TMEM67):c.2625T>C (p.His875=)
|
|
|
|
NM_153704.6(TMEM67):c.2627T>C (p.Met876Thr)
|
rs528989414
|
|
|
NM_153704.6(TMEM67):c.2635A>G (p.Lys879Glu)
|
|
|
|
NM_153704.6(TMEM67):c.2654T>C (p.Ile885Thr)
|
rs1563481671
|
|
|
NM_153704.6(TMEM67):c.2659C>A (p.His887Asn)
|
|
|
|
NM_153704.6(TMEM67):c.2660A>G (p.His887Arg)
|
|
|
|
NM_153704.6(TMEM67):c.2661+14del
|
|
|
|
NM_153704.6(TMEM67):c.2661+17T>A
|
rs2130781754
|
|
|
NM_153704.6(TMEM67):c.2661+18T>G
|
|
|
|
NM_153704.6(TMEM67):c.2661+3A>G
|
rs568703831
|
|
|
NM_153704.6(TMEM67):c.2662-16T>C
|
|
|
|
NM_153704.6(TMEM67):c.2662-6T>A
|
|
|
|
NM_153704.6(TMEM67):c.2662G>T (p.Val888Phe)
|
rs1586091861
|
|
|
NM_153704.6(TMEM67):c.2673A>G (p.Glu891=)
|
|
|
|
NM_153704.6(TMEM67):c.267_294del (p.Asn89fs)
|
|
|
|
NM_153704.6(TMEM67):c.2680T>A (p.Tyr894Asn)
|
rs1170985091
|
|
|
NM_153704.6(TMEM67):c.2685T>A (p.Phe895Leu)
|
rs1808622944
|
|
|
NM_153704.6(TMEM67):c.2688A>C (p.Ile896=)
|
|
|
|
NM_153704.6(TMEM67):c.2701CTT[1] (p.Leu902del)
|
rs2130783329
|
|
|
NM_153704.6(TMEM67):c.2706T>C (p.Leu902=)
|
|
|
|
NM_153704.6(TMEM67):c.270T>C (p.Asn90=)
|
|
|
|
NM_153704.6(TMEM67):c.2716C>T (p.Leu906Phe)
|
rs200477047
|
|
|
NM_153704.6(TMEM67):c.2725G>C (p.Glu909Gln)
|
rs878855230
|
|
|
NM_153704.6(TMEM67):c.2737C>A (p.Pro913Thr)
|
rs1254095209
|
|
|
NM_153704.6(TMEM67):c.273A>C (p.Gly91=)
|
|
|
|
NM_153704.6(TMEM67):c.2744A>T (p.Glu915Val)
|
rs1450784678
|
|
|
NM_153704.6(TMEM67):c.2764+10A>T
|
rs900677485
|
|
|
NM_153704.6(TMEM67):c.2764+19T>C
|
|
|
|
NM_153704.6(TMEM67):c.2764+2T>G
|
|
|
|
NM_153704.6(TMEM67):c.2765-5A>G
|
rs1808862357
|
|
|
NM_153704.6(TMEM67):c.2765-6dup
|
|
|
|
NM_153704.6(TMEM67):c.2769A>G (p.Glu923=)
|
|
|
|
NM_153704.6(TMEM67):c.2769A>T (p.Glu923Asp)
|
|
|
|
NM_153704.6(TMEM67):c.2771G>A (p.Gly924Asp)
|
|
|
|
NM_153704.6(TMEM67):c.2772T>C (p.Gly924=)
|
|
|
|
NM_153704.6(TMEM67):c.2774A>T (p.Tyr925Phe)
|
rs376103225
|
|
|
NM_153704.6(TMEM67):c.2776T>C (p.Ser926Pro)
|
rs763360678
|
|
|
NM_153704.6(TMEM67):c.2777C>A (p.Ser926Tyr)
|
rs1808863667
|
|
|
NM_153704.6(TMEM67):c.2787T>G (p.Ser929Arg)
|
rs1197717166
|
|
|
NM_153704.6(TMEM67):c.2790C>T (p.Val930=)
|
rs767620101
|
|
|
NM_153704.6(TMEM67):c.2793G>A (p.Leu931=)
|
|
|
|
NM_153704.6(TMEM67):c.2796T>C (p.Tyr932=)
|
|
|
|
NM_153704.6(TMEM67):c.2827G>T (p.Asp943Tyr)
|
rs2130799791
|
|
|
NM_153704.6(TMEM67):c.2829T>C (p.Asp943=)
|
|
|
|
NM_153704.6(TMEM67):c.2835G>A (p.Leu945=)
|
rs745807071
|
|
|
NM_153704.6(TMEM67):c.2835G>C (p.Leu945=)
|
|
|
|
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val)
|
rs758638902
|
|
|
NM_153704.6(TMEM67):c.2856G>A (p.Leu952=)
|
|
|
|
NM_153704.6(TMEM67):c.2858C>T (p.Ala953Val)
|
|
|
|
NM_153704.6(TMEM67):c.2861G>C (p.Cys954Ser)
|
rs537935631
|
|
|
NM_153704.6(TMEM67):c.2877A>G (p.Leu959=)
|
|
|
|
NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)
|
|
|
|
NM_153704.6(TMEM67):c.2883C>T (p.Ser961=)
|
|
|
|
NM_153704.6(TMEM67):c.288T>G (p.Ile96Met)
|
rs1812547985
|
|
|
NM_153704.6(TMEM67):c.2898A>G (p.Leu966=)
|
|
|
|
NM_153704.6(TMEM67):c.2907+14A>T
|
|
|
|
NM_153704.6(TMEM67):c.2908-10A>C
|
|
|
|
NM_153704.6(TMEM67):c.2908-12T>C
|
|
|
|
NM_153704.6(TMEM67):c.2908-15G>T
|
|
|
|
NM_153704.6(TMEM67):c.2908-20G>T
|
rs2130802403
|
|
|
NM_153704.6(TMEM67):c.2918A>G (p.Tyr973Cys)
|
|
|
|
NM_153704.6(TMEM67):c.2924G>T (p.Arg975Leu)
|
rs191759530
|
|
|
NM_153704.6(TMEM67):c.2933T>C (p.Val978Ala)
|
|
|
|
NM_153704.6(TMEM67):c.2934A>G (p.Val978=)
|
|
|
|
NM_153704.6(TMEM67):c.2942A>G (p.Lys981Arg)
|
rs2130802666
|
|
|
NM_153704.6(TMEM67):c.2947T>C (p.Leu983=)
|
|
|
|
NM_153704.6(TMEM67):c.2961A>G (p.Thr987=)
|
|
|
|
NM_153704.6(TMEM67):c.2962T>C (p.Leu988=)
|
|
|
|
NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)
|
|
|
|
NM_153704.6(TMEM67):c.2981_2982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCAAAGATTTTT (p.Leu994delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
rs2130802792
|
|
|
NM_153704.6(TMEM67):c.2982G>T (p.Leu994Phe)
|
|
|
|
NM_153704.6(TMEM67):c.2988A>G (p.Ter996=)
|
|
|
|
NM_153704.6(TMEM67):c.308A>G (p.Asn103Ser)
|
rs1289474043
|
|
|
NM_153704.6(TMEM67):c.312+15T>G
|
|
|
|
NM_153704.6(TMEM67):c.312+2T>G
|
rs2130528812
|
|
|
NM_153704.6(TMEM67):c.312+3G>A
|
rs1404637051
|
|
|
NM_153704.6(TMEM67):c.313-12C>G
|
|
|
|
NM_153704.6(TMEM67):c.313-12C>T
|
|
|
|
NM_153704.6(TMEM67):c.313-13del
|
rs367575555
|
|
|
NM_153704.6(TMEM67):c.317G>A (p.Gly106Asp)
|
rs1812680811
|
|
|
NM_153704.6(TMEM67):c.318T>C (p.Gly106=)
|
rs1812680947
|
|
|
NM_153704.6(TMEM67):c.319G>A (p.Val107Ile)
|
|
|
|
NM_153704.6(TMEM67):c.322dup (p.Thr108fs)
|
|
|
|
NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly)
|
|
|
|
NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)
|
|
|
|
NM_153704.6(TMEM67):c.32T>A (p.Met11Lys)
|
rs544982647
|
|
|
NM_153704.6(TMEM67):c.330T>C (p.Asp110=)
|
|
|
|
NM_153704.6(TMEM67):c.333C>G (p.Gly111=)
|
|
|
|
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
|
|
|
|
NM_153704.6(TMEM67):c.355A>G (p.Ser119Gly)
|
|
|
|
NM_153704.6(TMEM67):c.360C>T (p.Asp120=)
|
|
|
|
NM_153704.6(TMEM67):c.361T>G (p.Leu121Val)
|
rs934823566
|
|
|
NM_153704.6(TMEM67):c.36G>A (p.Ala12=)
|
rs766615868
|
|
|
NM_153704.6(TMEM67):c.36G>C (p.Ala12=)
|
|
|
|
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)
|
rs375824494
|
|
|
NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)
|
|
|
|
NM_153704.6(TMEM67):c.376A>C (p.Lys126Gln)
|
rs2130545126
|
|
|
NM_153704.6(TMEM67):c.390C>T (p.Pro130=)
|
|
|
|
NM_153704.6(TMEM67):c.392T>C (p.Ile131Thr)
|
rs2130545286
|
|
|
NM_153704.6(TMEM67):c.39T>G (p.Val13=)
|
|
|
|
NM_153704.6(TMEM67):c.401T>C (p.Ile134Thr)
|
|
|
|
NM_153704.6(TMEM67):c.406+11G>T
|
|
|
|
NM_153704.6(TMEM67):c.406+12A>T
|
rs575499078
|
|
|
NM_153704.6(TMEM67):c.406+17T>A
|
|
|
|
NM_153704.6(TMEM67):c.406+18T>C
|
|
|
|
NM_153704.6(TMEM67):c.406+1G>A
|
|
|
|
NM_153704.6(TMEM67):c.406+4A>G
|
|
|
|
NM_153704.6(TMEM67):c.406+7A>C
|
|
|
|
NM_153704.6(TMEM67):c.407-19T>C
|
|
|
|
NM_153704.6(TMEM67):c.407-1G>T
|
|
|
|
NM_153704.6(TMEM67):c.407-2A>G
|
rs2130576231
|
|
|
NM_153704.6(TMEM67):c.407-6G>C
|
rs1271174081
|
|
|
NM_153704.6(TMEM67):c.407-8C>G
|
rs778605297
|
|
|
NM_153704.6(TMEM67):c.407T>C (p.Val136Ala)
|
rs2130576247
|
|
|
NM_153704.6(TMEM67):c.408G>T (p.Val136=)
|
|
|
|
NM_153704.6(TMEM67):c.423T>C (p.Asn141=)
|
|
|
|
NM_153704.6(TMEM67):c.429A>T (p.Thr143=)
|
|
|
|
NM_153704.6(TMEM67):c.429_431del (p.Leu145del)
|
|
|
|
NM_153704.6(TMEM67):c.443C>A (p.Ala148Glu)
|
rs1563679408
|
|
|
NM_153704.6(TMEM67):c.454C>T (p.Leu152Phe)
|
rs1563679425
|
|
|
NM_153704.6(TMEM67):c.459_460del (p.Cys153_Asp154delinsTer)
|
|
|
|
NM_153704.6(TMEM67):c.45C>T (p.Ser15=)
|
|
|
|
NM_153704.6(TMEM67):c.463G>A (p.Gly155Arg)
|
|
|
|
NM_153704.6(TMEM67):c.471A>G (p.Glu157=)
|
rs1812962110
|
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NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro)
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rs775716868
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NM_153704.6(TMEM67):c.476C>T (p.Ser159Phe)
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NM_153704.6(TMEM67):c.485T>C (p.Val162Ala)
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NM_153704.6(TMEM67):c.48C>T (p.Leu16=)
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NM_153704.6(TMEM67):c.497T>C (p.Leu166Ser)
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rs1812963679
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NM_153704.6(TMEM67):c.499G>A (p.Gly167Arg)
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rs2130576945
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NM_153704.6(TMEM67):c.506+10G>A
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NM_153704.6(TMEM67):c.506+13A>T
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rs2130577066
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NM_153704.6(TMEM67):c.506+17G>C
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NM_153704.6(TMEM67):c.506+5G>A
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NM_153704.6(TMEM67):c.506+9T>G
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NM_153704.6(TMEM67):c.507-10T>C
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NM_153704.6(TMEM67):c.507-11A>G
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NM_153704.6(TMEM67):c.507-14G>T
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NM_153704.6(TMEM67):c.507-16T>G
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NM_153704.6(TMEM67):c.507-9A>G
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NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter)
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rs1563672487
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NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
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NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)
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rs138783896
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NM_153704.6(TMEM67):c.522G>A (p.Glu174=)
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NM_153704.6(TMEM67):c.531T>G (p.Phe177Leu)
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rs1813038272
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NM_153704.6(TMEM67):c.546G>A (p.Arg182=)
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rs2130585586
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NM_153704.6(TMEM67):c.55G>T (p.Ala19Ser)
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rs1300371747
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NM_153704.6(TMEM67):c.565C>T (p.Pro189Ser)
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NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)
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NM_153704.6(TMEM67):c.576+11C>A
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NM_153704.6(TMEM67):c.576+16T>C
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NM_153704.6(TMEM67):c.576+17T>C
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NM_153704.6(TMEM67):c.576+2T>C
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NM_153704.6(TMEM67):c.576+9A>G
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rs2130585836
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NM_153704.6(TMEM67):c.577-11T>C
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NM_153704.6(TMEM67):c.577-12T>A
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NM_153704.6(TMEM67):c.577-12_577-1delinsAA
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NM_153704.6(TMEM67):c.577-20T>C
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NM_153704.6(TMEM67):c.577-4del
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NM_153704.6(TMEM67):c.577-8T>C
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NM_153704.6(TMEM67):c.579del (p.Gly195fs)
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rs386834203
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NM_153704.6(TMEM67):c.57C>A (p.Ala19=)
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rs749429162
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NM_153704.6(TMEM67):c.588A>T (p.Leu196Phe)
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NM_153704.6(TMEM67):c.594C>T (p.Phe198=)
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rs149290663
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NM_153704.6(TMEM67):c.619C>T (p.Arg207Cys)
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NM_153704.6(TMEM67):c.651+12T>G
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NM_153704.6(TMEM67):c.651+15A>G
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NM_153704.6(TMEM67):c.651+17T>C
|
rs926157464
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NM_153704.6(TMEM67):c.651+17T>G
|
rs926157464
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NM_153704.6(TMEM67):c.651+18T>C
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NM_153704.6(TMEM67):c.651+19T>C
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NM_153704.6(TMEM67):c.651+22del
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NM_153704.6(TMEM67):c.651+8T>C
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NM_153704.6(TMEM67):c.652-18G>A
|
rs1198930533
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NM_153704.6(TMEM67):c.652-8G>T
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NM_153704.6(TMEM67):c.654C>G (p.Gly218=)
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NM_153704.6(TMEM67):c.654C>T (p.Gly218=)
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NM_153704.6(TMEM67):c.666T>A (p.Thr222=)
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NM_153704.6(TMEM67):c.66G>A (p.Val22=)
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NM_153704.6(TMEM67):c.675G>C (p.Trp225Cys)
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NM_153704.6(TMEM67):c.679G>A (p.Ala227Thr)
|
rs767886819
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NM_153704.6(TMEM67):c.67A>G (p.Thr23Ala)
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rs2130521457
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NM_153704.6(TMEM67):c.67A>T (p.Thr23Ser)
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NM_153704.6(TMEM67):c.683_689del (p.Lys228fs)
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rs2130622403
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NM_153704.6(TMEM67):c.687T>C (p.Tyr229=)
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NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg)
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rs143495661
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NM_153704.6(TMEM67):c.695C>T (p.Ser232Leu)
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rs2130622470
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NM_153704.6(TMEM67):c.69C>G (p.Thr23=)
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NM_153704.6(TMEM67):c.708A>G (p.Ala236=)
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NM_153704.6(TMEM67):c.714+11A>G
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NM_153704.6(TMEM67):c.714+14T>C
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NM_153704.6(TMEM67):c.714+4A>G
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NM_153704.6(TMEM67):c.714+7T>C
|
rs2130622573
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NM_153704.6(TMEM67):c.714G>A (p.Trp238Ter)
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rs1038920023
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NM_153704.6(TMEM67):c.715-12G>A
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NM_153704.6(TMEM67):c.715-12G>T
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NM_153704.6(TMEM67):c.715-13T>C
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NM_153704.6(TMEM67):c.715-4G>C
|
rs560467218
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NM_153704.6(TMEM67):c.715-8T>C
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NM_153704.6(TMEM67):c.71C>T (p.Ala24Val)
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NM_153704.6(TMEM67):c.720T>C (p.Tyr240=)
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NM_153704.6(TMEM67):c.722C>T (p.Ala241Val)
|
rs115766095
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NM_153704.6(TMEM67):c.731C>T (p.Thr244Ile)
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rs1405448469
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NM_153704.6(TMEM67):c.741A>G (p.Gln247=)
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NM_153704.6(TMEM67):c.744T>C (p.Ala248=)
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NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
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NM_153704.6(TMEM67):c.754A>G (p.Met252Val)
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NM_153704.6(TMEM67):c.756G>C (p.Met252Ile)
|
rs2130662628
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NM_153704.6(TMEM67):c.757T>G (p.Cys253Gly)
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NM_153704.6(TMEM67):c.786T>C (p.Phe262=)
|
rs1222482768
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NM_153704.6(TMEM67):c.789C>T (p.Ala263=)
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NM_153704.6(TMEM67):c.793T>G (p.Phe265Val)
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NM_153704.6(TMEM67):c.796G>C (p.Asp266His)
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NM_153704.6(TMEM67):c.801A>G (p.Ala267=)
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NM_153704.6(TMEM67):c.810A>G (p.Leu270=)
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NM_153704.6(TMEM67):c.816G>C (p.Gln272His)
|
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NM_153704.6(TMEM67):c.820A>C (p.Ile274Leu)
|
rs748922044
|
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NM_153704.6(TMEM67):c.840A>C (p.Gly280=)
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NM_153704.6(TMEM67):c.840A>G (p.Gly280=)
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NM_153704.6(TMEM67):c.846C>T (p.Ser282=)
|
rs1813782763
|
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NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile)
|
rs747533371
|
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NM_153704.6(TMEM67):c.849T>G (p.Thr283=)
|
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NM_153704.6(TMEM67):c.854A>T (p.His285Leu)
|
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NM_153704.6(TMEM67):c.859A>G (p.Ile287Val)
|
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NM_153704.6(TMEM67):c.869+17T>C
|
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NM_153704.6(TMEM67):c.869+17T>G
|
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NM_153704.6(TMEM67):c.869+18G>C
|
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NM_153704.6(TMEM67):c.869+1G>C
|
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NM_153704.6(TMEM67):c.869+20T>C
|
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NM_153704.6(TMEM67):c.869+3A>T
|
rs1813784101
|
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NM_153704.6(TMEM67):c.869G>A (p.Trp290Ter)
|
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NM_153704.6(TMEM67):c.870-16T>C
|
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NM_153704.6(TMEM67):c.870-8G>A
|
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NM_153704.6(TMEM67):c.877_880del (p.Asn293fs)
|
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NM_153704.6(TMEM67):c.897T>C (p.Tyr299=)
|
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NM_153704.6(TMEM67):c.905A>G (p.Gln302Arg)
|
rs2130664380
|
|
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NM_153704.6(TMEM67):c.924_925insTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGGATTAGCACCTCAA (p.Val309Ter)
|
rs2130664400
|
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NM_153704.6(TMEM67):c.92C>T (p.Pro31Leu)
|
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NM_153704.6(TMEM67):c.937A>G (p.Thr313Ala)
|
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NM_153704.6(TMEM67):c.939C>T (p.Thr313=)
|
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NM_153704.6(TMEM67):c.949A>T (p.Thr317Ser)
|
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NM_153704.6(TMEM67):c.94C>A (p.Arg32Ser)
|
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NM_153704.6(TMEM67):c.952A>G (p.Asn318Asp)
|
|
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|
NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)
|
|
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|
NM_153704.6(TMEM67):c.972A>G (p.Glu324=)
|
rs2130664789
|
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NM_153704.6(TMEM67):c.978+12T>C
|
rs2130664875
|
|
|
NM_153704.6(TMEM67):c.978+14A>G
|
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|
|
NM_153704.6(TMEM67):c.978+17T>C
|
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NM_153704.6(TMEM67):c.978+1G>A
|
rs1563458773
|
|
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NM_153704.6(TMEM67):c.978+3A>G
|
rs775256658
|
|
|
NM_153704.6(TMEM67):c.979-15G>A
|
|
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NM_153704.6(TMEM67):c.979-18C>T
|
|
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|
NM_153704.6(TMEM67):c.982A>T (p.Thr328Ser)
|
rs2130668443
|
|
|
NM_153704.6(TMEM67):c.990G>A (p.Leu330=)
|
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|
NM_153704.6(TMEM67):c.995T>G (p.Phe332Cys)
|
rs2130668557
|
|
|
NM_153704.6(TMEM67):c.996_1014del (p.Phe332fs)
|
rs2130668581
|
|
|
NM_153704.6(TMEM67):c.99C>T (p.Phe33=)
|
|
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|
NM_153704.6(TMEM67):c.9G>A (p.Thr3=)
|
rs774376361
|
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|
Single allele
|
|
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