ClinVar Miner

List of variants studied for Meckel syndrome by Invitae

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9345
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HGVS dbSNP gnomAD frequency
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
NM_000660.6(TGFB1):c.-1347T>C 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
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) 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_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 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.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.1540A>G (p.Ile514Val) rs371539069 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.1592A>G (p.Glu531Gly) rs794727129 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.2546A>T (p.Asp849Val) rs1313832672 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.6023C>T (p.Ala2008Val) rs376307540 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.2556+4T>G rs772449181 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
NM_001077418.2(TMEM231):c.-62A>C 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.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.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_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.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.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.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
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001077418.2(TMEM231):c.-46G>A rs752769188 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.211G>A (p.Val71Ile) rs776696098 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.3008A>G (p.Asn1003Ser) rs376663620 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.3154G>A (p.Asp1052Asn) rs1055487228 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_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 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.3362C>T (p.Pro1121Leu) rs886052093 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.2423A>G (p.Tyr808Cys) rs773007151 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.4150C>T (p.Arg1384Cys) rs794727563 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.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr) rs1159836808 0.00003
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) rs794727762 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.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
NM_001009894.3(RLIG1):c.*1008T>C rs762987255 0.00001
NM_001009894.3(RLIG1):c.*997T>A rs2033257006 0.00001
NM_001077418.2(TMEM231):c.-44C>A 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.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.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.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.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.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.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.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)_(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.(?_15529050)_(15530369_?)del
NC_000004.11:g.(?_15565496)_(15581640_?)del
NC_000004.11:g.(?_15568980)_(15569429_?)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.(?_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_000008.11:g.93799747GGAATTATACAGGTAA[3]
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.(?_124177185)_(124177290_?)del
NC_000012.11:g.(?_124189059)_(124192260_?)del
NC_000012.11:g.(?_124192131)_(124192260_?)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)_(88494960_?)del
NC_000012.11:g.(?_88452615)_(88453807_?)del
NC_000012.11:g.(?_88465051)_(88465723_?)del
NC_000012.11:g.(?_88465051)_(88508979_?)dup
NC_000012.11:g.(?_88470989)_(88473016_?)del
NC_000012.11:g.(?_88479796)_(88514963_?)del
NC_000012.11:g.(?_88494960)_(88512540_?)dup
NC_000012.11:g.(?_88510800)_(88510932_?)del
NC_000012.11:g.(?_88512250)_(88519156_?)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_000016.9: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.(?_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.(?_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.(?_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)_(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.(?_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_001009894.3(RLIG1):c.*1006_*1008dup
NM_001009894.3(RLIG1):c.*1008_*1013del rs753383814
NM_001009894.3(RLIG1):c.*995A>C
NM_001077418.2(TMEM231):c.-53A>G rs1176007249
NM_001077418.2(TMEM231):c.-55C>T rs2151711350
NM_001077418.2(TMEM231):c.-59G>A
NM_001077418.2(TMEM231):c.-61T>G
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
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)
NM_001378615.1(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
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=)
NM_001378615.1(CC2D2A):c.4705T>G (p.Ser1569Ala)
NM_001378615.1(CC2D2A):c.4708G>T (p.Glu1570Ter)
NM_001378615.1(CC2D2A):c.4718C>T (p.Pro1573Leu)
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
NM_001378615.1(CC2D2A):c.4736A>G (p.Tyr1579Cys)
NM_001378615.1(CC2D2A):c.4740T>C (p.Ser1580=) rs759221177
NM_001378615.1(CC2D2A):c.4746A>C (p.Gly1582=) rs2148497436
NM_001378615.1(CC2D2A):c.4746_4747dup (p.Val1583fs) rs1721586115
NM_001378615.1(CC2D2A):c.4752T>C (p.His1584=)
NM_001378615.1(CC2D2A):c.4757T>A (p.Ile1586Asn)
NM_001378615.1(CC2D2A):c.4767T>C (p.Pro1589=)
NM_001378615.1(CC2D2A):c.4773T>C (p.Val1591=)
NM_001378615.1(CC2D2A):c.477C>T (p.Asp159=)
NM_001378615.1(CC2D2A):c.4808C>G (p.Pro1603Arg) rs2148497490
NM_001378615.1(CC2D2A):c.4811A>G (p.Lys1604Arg)
NM_001378615.1(CC2D2A):c.4819T>C (p.Leu1607=) rs1197953378
NM_001378615.1(CC2D2A):c.4819_4820del (p.Leu1607fs)
NM_001378615.1(CC2D2A):c.4835A>G (p.Tyr1612Cys) rs368070611
NM_001378615.1(CC2D2A):c.4836T>C (p.Tyr1612=)
NM_001378615.1(CC2D2A):c.483A>C (p.Gln161His)
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378615.1(CC2D2A):c.4847T>A (p.Leu1616His)
NM_001378615.1(CC2D2A):c.4848T>C (p.Leu1616=) rs1396115620
NM_001378615.1(CC2D2A):c.4848T>G (p.Leu1616=)
NM_001378615.1(CC2D2A):c.4852C>A (p.Arg1618Ser) rs201219078
NM_001378615.1(CC2D2A):c.4852C>G (p.Arg1618Gly)
NM_001378615.1(CC2D2A):c.4854C>A (p.Arg1618=)
NM_001378615.1(CC2D2A):c.4863A>G (p.Ter1621=)
NM_001378615.1(CC2D2A):c.48T>C (p.Ile16=)
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=)
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)
NM_001378615.1(CC2D2A):c.534del (p.Lys178fs)
NM_001378615.1(CC2D2A):c.540+10C>G
NM_001378615.1(CC2D2A):c.540+13G>T
NM_001378615.1(CC2D2A):c.540+17T>C
NM_001378615.1(CC2D2A):c.540+18T>C
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
NM_001378615.1(CC2D2A):c.540+5G>C
NM_001378615.1(CC2D2A):c.541-11C>G
NM_001378615.1(CC2D2A):c.541-12G>A
NM_001378615.1(CC2D2A):c.541-16C>T
NM_001378615.1(CC2D2A):c.541-18C>T
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=)
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=)
NM_001378615.1(CC2D2A):c.612A>G (p.Glu204=)
NM_001378615.1(CC2D2A):c.615A>T (p.Gly205=)
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
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
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_015272.5(RPGRIP1L):c.3617-4A>G rs771975767
NM_015272.5(RPGRIP1L):c.3617-5T>C
NM_015272.5(RPGRIP1L):c.3617-6G>A
NM_015272.5(RPGRIP1L):c.3617-6G>T rs377099270
NM_015272.5(RPGRIP1L):c.3617-7G>T rs1363436397
NM_015272.5(RPGRIP1L):c.3617-9T>C
NM_015272.5(RPGRIP1L):c.3623A>G (p.Tyr1208Cys)
NM_015272.5(RPGRIP1L):c.3628dup (p.Asp1210fs) rs2150938444
NM_015272.5(RPGRIP1L):c.3647_3651del (p.Ala1216fs) rs1964001995
NM_015272.5(RPGRIP1L):c.3648A>G (p.Ala1216=) rs2150938382
NM_015272.5(RPGRIP1L):c.3651G>A (p.Lys1217=)
NM_015272.5(RPGRIP1L):c.3655_3658dup (p.Ile1220fs)
NM_015272.5(RPGRIP1L):c.3657C>T (p.Asp1219=)
NM_015272.5(RPGRIP1L):c.3659T>C (p.Ile1220Thr) rs2150938312
NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter)
NM_015272.5(RPGRIP1L):c.3691C>T (p.Pro1231Ser)
NM_015272.5(RPGRIP1L):c.3696T>C (p.Asn1232=) rs2150938143
NM_015272.5(RPGRIP1L):c.3699A>G (p.Arg1233=)
NM_015272.5(RPGRIP1L):c.3701+13A>G
NM_015272.5(RPGRIP1L):c.3701+16C>A
NM_015272.5(RPGRIP1L):c.3701+19A>G
NM_015272.5(RPGRIP1L):c.3701+20A>G
NM_015272.5(RPGRIP1L):c.3701+9T>C
NM_015272.5(RPGRIP1L):c.3702-14C>G
NM_015272.5(RPGRIP1L):c.3702-20T>G
NM_015272.5(RPGRIP1L):c.3702-4C>T
NM_015272.5(RPGRIP1L):c.3702-6T>C
NM_015272.5(RPGRIP1L):c.3702-9C>A
NM_015272.5(RPGRIP1L):c.3702-9C>T
NM_015272.5(RPGRIP1L):c.3720C>T (p.Val1240=)
NM_015272.5(RPGRIP1L):c.3735G>A (p.Glu1245=)
NM_015272.5(RPGRIP1L):c.3748C>T (p.Leu1250=)
NM_015272.5(RPGRIP1L):c.3750G>A (p.Leu1250=)
NM_015272.5(RPGRIP1L):c.3753G>A (p.Glu1251=)
NM_015272.5(RPGRIP1L):c.3759G>A (p.Glu1253=)
NM_015272.5(RPGRIP1L):c.3765T>G (p.Ile1255Met) rs2150920632
NM_015272.5(RPGRIP1L):c.3766G>T (p.Gly1256Cys) rs1963628196
NM_015272.5(RPGRIP1L):c.3771G>A (p.Val1257=) rs1963627514
NM_015272.5(RPGRIP1L):c.377_378insGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAACAAAA (p.Asn126fs)
NM_015272.5(RPGRIP1L):c.377del (p.Asn126fs)
NM_015272.5(RPGRIP1L):c.3780C>A (p.Val1260=)
NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn) rs1445612197
NM_015272.5(RPGRIP1L):c.3789C>T (p.Ala1263=) rs1963626162
NM_015272.5(RPGRIP1L):c.379G>A (p.Glu127Lys) rs2151352773
NM_015272.5(RPGRIP1L):c.3801G>A (p.Gln1267=)
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs) rs761954313
NM_015272.5(RPGRIP1L):c.3813C>T (p.Asp1271=)
NM_015272.5(RPGRIP1L):c.3816C>T (p.Leu1272=)
NM_015272.5(RPGRIP1L):c.3827A>G (p.Asn1276Ser) rs1963622750
NM_015272.5(RPGRIP1L):c.3829A>G (p.Ile1277Val)
NM_015272.5(RPGRIP1L):c.3831C>A (p.Ile1277=)
NM_015272.5(RPGRIP1L):c.3835+12A>T
NM_015272.5(RPGRIP1L):c.3835+13G>A
NM_015272.5(RPGRIP1L):c.3835+14T>C
NM_015272.5(RPGRIP1L):c.3835+15G>A
NM_015272.5(RPGRIP1L):c.3835+18G>T
NM_015272.5(RPGRIP1L):c.3835+19C>T
NM_015272.5(RPGRIP1L):c.3835+20_3835+34del
NM_015272.5(RPGRIP1L):c.3835+5G>A rs754798360
NM_015272.5(RPGRIP1L):c.3836-13C>G rs886038620
NM_015272.5(RPGRIP1L):c.3836-16G>A
NM_015272.5(RPGRIP1L):c.3836-18C>T
NM_015272.5(RPGRIP1L):c.3836-19C>G rs1276455735
NM_015272.5(RPGRIP1L):c.3836-19C>T
NM_015272.5(RPGRIP1L):c.3836-21_3836-20del
NM_015272.5(RPGRIP1L):c.3836-4C>A rs1233984342
NM_015272.5(RPGRIP1L):c.3836-5C>T
NM_015272.5(RPGRIP1L):c.3837T>G (p.Val1279=) rs2150909559
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr) rs2150909535
NM_015272.5(RPGRIP1L):c.3845C>T (p.Ala1282Val) rs2150909524
NM_015272.5(RPGRIP1L):c.3847C>A (p.Arg1283=) rs754697392
NM_015272.5(RPGRIP1L):c.3848G>A (p.Arg1283Gln)
NM_015272.5(RPGRIP1L):c.384C>G (p.Thr128=) rs2151352728
NM_015272.5(RPGRIP1L):c.384C>T (p.Thr128=) rs2151352728
NM_015272.5(RPGRIP1L):c.3864T>C (p.Gly1288=) rs2150909430
NM_015272.5(RPGRIP1L):c.3880G>A (p.Val1294Ile)
NM_015272.5(RPGRIP1L):c.3886G>A (p.Val1296Ile)
NM_015272.5(RPGRIP1L):c.3887T>A (p.Val1296Asp)
NM_015272.5(RPGRIP1L):c.3888C>T (p.Val1296=) rs1963406998
NM_015272.5(RPGRIP1L):c.3889G>A (p.Glu1297Lys)
NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=) rs915393428
NM_015272.5(RPGRIP1L):c.3901G>A (p.Ala1301Thr)
NM_015272.5(RPGRIP1L):c.3912T>C (p.Ser1304=) rs2150909277
NM_015272.5(RPGRIP1L):c.3935A>C (p.Asp1312Ala) rs1963404223
NM_015272.5(RPGRIP1L):c.3939G>A (p.Leu1313=)
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) rs121918201
NM_015272.5(RPGRIP1L):c.397C>T (p.Leu133=) rs2151352510
NM_015272.5(RPGRIP1L):c.411A>G (p.Lys137=)
NM_015272.5(RPGRIP1L):c.414del (p.Gln138fs)
NM_015272.5(RPGRIP1L):c.421C>T (p.Gln141Ter) rs2151352275
NM_015272.5(RPGRIP1L):c.423A>G (p.Gln141=)
NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter) rs1970430433
NM_015272.5(RPGRIP1L):c.431G>A (p.Gly144Asp) rs1970430274
NM_015272.5(RPGRIP1L):c.440A>T (p.Gln147Leu) rs2151352094
NM_015272.5(RPGRIP1L):c.441_529+79delinsTGCT
NM_015272.5(RPGRIP1L):c.447A>C (p.Pro149=)
NM_015272.5(RPGRIP1L):c.447A>G (p.Pro149=)
NM_015272.5(RPGRIP1L):c.450C>T (p.Tyr150=) rs748120890
NM_015272.5(RPGRIP1L):c.458T>C (p.Val153Ala) rs1970427633
NM_015272.5(RPGRIP1L):c.459A>G (p.Val153=) rs2151351733
NM_015272.5(RPGRIP1L):c.462A>G (p.Gln154=)
NM_015272.5(RPGRIP1L):c.467G>A (p.Arg156His)
NM_015272.5(RPGRIP1L):c.467G>T (p.Arg156Leu)
NM_015272.5(RPGRIP1L):c.474C>T (p.Asn158=)
NM_015272.5(RPGRIP1L):c.477T>C (p.Thr159=)
NM_015272.5(RPGRIP1L):c.480G>T (p.Gly160=)
NM_015272.5(RPGRIP1L):c.482G>T (p.Arg161Leu)
NM_015272.5(RPGRIP1L):c.483T>G (p.Arg161=) rs2151351392
NM_015272.5(RPGRIP1L):c.486A>G (p.Arg162=)
NM_015272.5(RPGRIP1L):c.490G>A (p.Ala164Thr)
NM_015272.5(RPGRIP1L):c.492A>G (p.Ala164=)
NM_015272.5(RPGRIP1L):c.496G>T (p.Glu166Ter) rs2151351169
NM_015272.5(RPGRIP1L):c.503C>T (p.Ala168Val) rs926999229
NM_015272.5(RPGRIP1L):c.504T>C (p.Ala168=) rs2151351081
NM_015272.5(RPGRIP1L):c.505G>C (p.Gly169Arg)
NM_015272.5(RPGRIP1L):c.507T>C (p.Gly169=) rs2151350970
NM_015272.5(RPGRIP1L):c.511C>T (p.Gln171Ter)
NM_015272.5(RPGRIP1L):c.516A>G (p.Glu172=) rs2151350826
NM_015272.5(RPGRIP1L):c.519C>T (p.Cys173=)
NM_015272.5(RPGRIP1L):c.51A>G (p.Thr17=)
NM_015272.5(RPGRIP1L):c.525G>A (p.Arg175=) rs2151350777
NM_015272.5(RPGRIP1L):c.528del (p.Gly177fs) rs1970421631
NM_015272.5(RPGRIP1L):c.529+13T>C
NM_015272.5(RPGRIP1L):c.529+14T>C
NM_015272.5(RPGRIP1L):c.529+15A>G
NM_015272.5(RPGRIP1L):c.529+16C>G rs765320880
NM_015272.5(RPGRIP1L):c.529+19T>G
NM_015272.5(RPGRIP1L):c.529+1G>A
NM_015272.5(RPGRIP1L):c.529+7C>G rs1970421028
NM_015272.5(RPGRIP1L):c.529+7C>T rs1970421028
NM_015272.5(RPGRIP1L):c.52_57del (p.Gly18_Leu19del)
NM_015272.5(RPGRIP1L):c.530-10T>C
NM_015272.5(RPGRIP1L):c.530-13A>G
NM_015272.5(RPGRIP1L):c.530-16A>G
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_015272.5(RPGRIP1L):c.530-20T>C
NM_015272.5(RPGRIP1L):c.530-3del rs1567882035
NM_015272.5(RPGRIP1L):c.530-8G>C
NM_015272.5(RPGRIP1L):c.530-9T>C
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter)
NM_015272.5(RPGRIP1L):c.544G>A (p.Asp182Asn) rs2151325702
NM_015272.5(RPGRIP1L):c.548C>T (p.Ala183Val)
NM_015272.5(RPGRIP1L):c.550_551insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCAAGATGCAG (p.Asp184delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) rs2151325681
NM_015272.5(RPGRIP1L):c.555A>G (p.Val185=)
NM_015272.5(RPGRIP1L):c.556G>C (p.Ala186Pro)
NM_015272.5(RPGRIP1L):c.562A>G (p.Thr188Ala)
NM_015272.5(RPGRIP1L):c.563C>T (p.Thr188Ile)
NM_015272.5(RPGRIP1L):c.564T>A (p.Thr188=)
NM_015272.5(RPGRIP1L):c.582A>T (p.Thr194=)
NM_015272.5(RPGRIP1L):c.590G>C (p.Gly197Ala)
NM_015272.5(RPGRIP1L):c.591C>A (p.Gly197=)
NM_015272.5(RPGRIP1L):c.591_598del (p.Asn198fs)
NM_015272.5(RPGRIP1L):c.591del (p.Asn198fs) rs1283508618
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.59A>C (p.Asn20Thr)
NM_015272.5(RPGRIP1L):c.609A>C (p.Glu203Asp)
NM_015272.5(RPGRIP1L):c.616G>T (p.Gly206Ter)
NM_015272.5(RPGRIP1L):c.618A>G (p.Gly206=) rs1970130340
NM_015272.5(RPGRIP1L):c.632+16T>C
NM_015272.5(RPGRIP1L):c.632+16del rs559978421
NM_015272.5(RPGRIP1L):c.632+1G>A rs1376397728
NM_015272.5(RPGRIP1L):c.632+1G>T
NM_015272.5(RPGRIP1L):c.632+2T>C rs2151325186
NM_015272.5(RPGRIP1L):c.632+7G>A rs746526374
NM_015272.5(RPGRIP1L):c.632+9_632+21del rs2151325015
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)
NM_015272.5(RPGRIP1L):c.633-14G>T
NM_015272.5(RPGRIP1L):c.633-15G>A
NM_015272.5(RPGRIP1L):c.633-19C>T rs2151318621
NM_015272.5(RPGRIP1L):c.633-1G>C rs2151318564
NM_015272.5(RPGRIP1L):c.638A>G (p.Asn213Ser) rs2151318519
NM_015272.5(RPGRIP1L):c.647del (p.Gln216fs)
NM_015272.5(RPGRIP1L):c.651A>C (p.Ser217=)
NM_015272.5(RPGRIP1L):c.659del (p.Gly220fs)
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs) rs1567902051
NM_015272.5(RPGRIP1L):c.663_664dup (p.Ile222fs) rs2151318273
NM_015272.5(RPGRIP1L):c.669G>A (p.Glu223=)
NM_015272.5(RPGRIP1L):c.66T>C (p.Phe22=) rs760486367
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
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
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
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
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
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5227-2A>G
NM_025114.4(CEP290):c.5227-4T>G rs2137083466
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5230C>T (p.Leu1744Phe)
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5236C>A (p.Arg1746=) rs774427529
NM_025114.4(CEP290):c.5241A>C (p.Ala1747=)
NM_025114.4(CEP290):c.5250A>G (p.Glu1750=)
NM_025114.4(CEP290):c.5254C>A (p.Arg1752=) rs748471942
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5259A>G (p.Ala1753=)
NM_025114.4(CEP290):c.525A>G (p.Gln175=) rs2039993836
NM_025114.4(CEP290):c.5263A>G (p.Met1755Val)
NM_025114.4(CEP290):c.5268A>G (p.Thr1756=)
NM_025114.4(CEP290):c.5277T>C (p.Ala1759=)
NM_025114.4(CEP290):c.5277dup (p.Glu1760Ter)
NM_025114.4(CEP290):c.5282A>G (p.Glu1761Gly)
NM_025114.4(CEP290):c.5287A>C (p.Ile1763Leu)
NM_025114.4(CEP290):c.5298A>C (p.Ala1766=) rs2137081487
NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala)
NM_025114.4(CEP290):c.52C>T (p.Leu18=) rs2138305571
NM_025114.4(CEP290):c.5301T>G (p.Thr1767=) rs891496300
NM_025114.4(CEP290):c.530G>T (p.Cys177Phe)
NM_025114.4(CEP290):c.5313G>A (p.Glu1771=) rs2137081165
NM_025114.4(CEP290):c.5319T>C (p.His1773=)
NM_025114.4(CEP290):c.5324A>G (p.Asn1775Ser) rs527586777
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter) rs774410421
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter) rs2039993548
NM_025114.4(CEP290):c.5340T>C (p.Val1780=) rs2137080571
NM_025114.4(CEP290):c.5341G>A (p.Asp1781Asn)
NM_025114.4(CEP290):c.5343T>G (p.Asp1781Glu)
NM_025114.4(CEP290):c.5345G>A (p.Arg1782Gln)
NM_025114.4(CEP290):c.5346A>G (p.Arg1782=)
NM_025114.4(CEP290):c.5348_5351del (p.His1783fs) rs2137080156
NM_025114.4(CEP290):c.534G>A (p.Gln178=)
NM_025114.4(CEP290):c.5364+14C>A
NM_025114.4(CEP290):c.5364+14C>T
NM_025114.4(CEP290):c.5364+15G>A
NM_025114.4(CEP290):c.5364+17G>A
NM_025114.4(CEP290):c.5364+3G>A
NM_025114.4(CEP290):c.5364+8T>A rs2137079741
NM_025114.4(CEP290):c.5364+8T>G
NM_025114.4(CEP290):c.5364+9C>T rs2137079700
NM_025114.4(CEP290):c.5365-12T>G
NM_025114.4(CEP290):c.5365-17dup
NM_025114.4(CEP290):c.5365-8C>T
NM_025114.4(CEP290):c.5365-9T>C
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile) rs2035901966
NM_025114.4(CEP290):c.5367A>T (p.Thr1789=)
NM_025114.4(CEP290):c.5387A>C (p.Glu1796Ala) rs2137060627
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.5392C>G (p.Leu1798Val)
NM_025114.4(CEP290):c.5409A>G (p.Glu1803=)
NM_025114.4(CEP290):c.5415del (p.Thr1807fs) rs1592808035
NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter)
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
NM_025114.4(CEP290):c.5421A>C (p.Thr1807=)
NM_025114.4(CEP290):c.5423_5426del (p.Ser1808fs)
NM_025114.4(CEP290):c.5428A>G (p.Asn1810Asp) rs1351470304
NM_025114.4(CEP290):c.5432G>A (p.Arg1811Lys)
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5439C>T (p.Asn1813=) rs2137059444
NM_025114.4(CEP290):c.5445A>C (p.Leu1815=) rs1401075815
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5455T>C (p.Leu1819=)
NM_025114.4(CEP290):c.5460T>C (p.Asn1820=)
NM_025114.4(CEP290):c.5468A>G (p.Asn1823Ser)
NM_025114.4(CEP290):c.5468_5471del (p.Asn1823fs)
NM_025114.4(CEP290):c.5483A>G (p.Lys1828Arg)
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5499T>C (p.Tyr1833=)
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5507T>C (p.Ile1836Thr)
NM_025114.4(CEP290):c.5508A>T (p.Ile1836=)
NM_025114.4(CEP290):c.5509_5512del (p.Leu1837fs)
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs) rs1565822519
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5517G>A (p.Glu1839=)
NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val)
NM_025114.4(CEP290):c.5529T>A (p.Ile1843=)
NM_025114.4(CEP290):c.552G>A (p.Gln184=)
NM_025114.4(CEP290):c.5535A>G (p.Gln1845=)
NM_025114.4(CEP290):c.5538G>A (p.Glu1846=)
NM_025114.4(CEP290):c.5549T>C (p.Leu1850Pro) rs1176131735
NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)
NM_025114.4(CEP290):c.5559A>G (p.Gln1853=) rs2035884341
NM_025114.4(CEP290):c.555A>G (p.Lys185=) rs2138097181
NM_025114.4(CEP290):c.5564_5566del (p.Lys1855del)
NM_025114.4(CEP290):c.5573C>T (p.Thr1858Ile)
NM_025114.4(CEP290):c.5574C>G (p.Thr1858=)
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=) rs775652694
NM_025114.4(CEP290):c.5576G>A (p.Ser1859Asn) rs2137056432
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg) rs2035881706
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5581T>C (p.Leu1861=)
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter) rs2137056192
NM_025114.4(CEP290):c.5583A>C (p.Leu1861Phe)
NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)
NM_025114.4(CEP290):c.5586+12T>C
NM_025114.4(CEP290):c.5586+14T>G
NM_025114.4(CEP290):c.5586+17C>T rs2137055900
NM_025114.4(CEP290):c.5586+19C>T
NM_025114.4(CEP290):c.5586+1G>C rs2035880971
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5586+8_5586+9insGATTACAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_025114.4(CEP290):c.5587-10T>A rs1592805772
NM_025114.4(CEP290):c.5587-12T>G
NM_025114.4(CEP290):c.5587-14_5588del
NM_025114.4(CEP290):c.5587-15C>T
NM_025114.4(CEP290):c.5587-16dup
NM_025114.4(CEP290):c.5587-19G>A
NM_025114.4(CEP290):c.5587-7T>A
NM_025114.4(CEP290):c.5587-9A>C rs2035856064
NM_025114.4(CEP290):c.558_561del (p.Asp188fs)
NM_025114.4(CEP290):c.5596del (p.Pro1865_Leu1866insTer)
NM_025114.4(CEP290):c.5599A>G (p.Thr1867Ala)
NM_025114.4(CEP290):c.5605A>C (p.Asn1869His)
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.560T>C (p.Ile187Thr)
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5614del (p.Ser1872fs)
NM_025114.4(CEP290):c.5619A>G (p.Leu1873=) rs2035852547
NM_025114.4(CEP290):c.5625A>G (p.Glu1875=) rs754796813
NM_025114.4(CEP290):c.5631C>T (p.Leu1877=) rs2137050526
NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter) rs2137050478
NM_025114.4(CEP290):c.5634A>G (p.Gln1878=)
NM_025114.4(CEP290):c.5648A>C (p.Lys1883Thr)
NM_025114.4(CEP290):c.5649A>G (p.Lys1883=) rs2137050153
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5658C>T (p.Asn1886=)
NM_025114.4(CEP290):c.5659C>A (p.Gln1887Lys)
NM_025114.4(CEP290):c.5676G>A (p.Val1892=) rs2137049568
NM_025114.4(CEP290):c.567A>G (p.Ser189=)
NM_025114.4(CEP290):c.5682A>G (p.Glu1894=)
NM_025114.4(CEP290):c.5684T>C (p.Val1895Ala)
NM_025114.4(CEP290):c.5689C>T (p.Leu1897=) rs2137049271
NM_025114.4(CEP290):c.5691A>G (p.Leu1897=)
NM_025114.4(CEP290):c.5698A>G (p.Met1900Val) rs1415835597
NM_025114.4(CEP290):c.569A>G (p.Gln190Arg) rs2039990572
NM_025114.4(CEP290):c.5709+12A>T
NM_025114.4(CEP290):c.5709+14C>A
NM_025114.4(CEP290):c.5709+17A>C
NM_025114.4(CEP290):c.5709+1G>A rs759850328
NM_025114.4(CEP290):c.5709+2T>G
NM_025114.4(CEP290):c.5709+7G>A
NM_025114.4(CEP290):c.5710-13G>A
NM_025114.4(CEP290):c.5710-18C>G
NM_025114.4(CEP290):c.5710-7_5710-5del
NM_025114.4(CEP290):c.5710-9T>C
NM_025114.4(CEP290):c.5714del (p.Ala1905fs) rs2136966486
NM_025114.4(CEP290):c.5715T>C (p.Ala1905=)
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) rs754728136
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.4(CEP290):c.5739A>G (p.Glu1913=)
NM_025114.4(CEP290):c.5745T>C (p.Gly1915=) rs2035404611
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
NM_025114.4(CEP290):c.5750del (p.Lys1917fs)
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
NM_025114.4(CEP290):c.5757A>G (p.Gln1919=)
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=) rs1027531979
NM_025114.4(CEP290):c.5766_5769del (p.Ile1922fs)
NM_025114.4(CEP290):c.5775T>C (p.Ile1925=)
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5783del (p.Lys1928fs) rs2136964738
NM_025114.4(CEP290):c.5784G>A (p.Lys1928=) rs2136964688
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs) rs2035400071
NM_025114.4(CEP290):c.5790A>C (p.Lys1930Asn)
NM_025114.4(CEP290):c.5790del (p.Glu1931fs) rs2136964542
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs) rs2136964385
NM_025114.4(CEP290):c.5796A>G (p.Lys1932=)
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
NM_025114.4(CEP290):c.5799G>A (p.Glu1933=) rs2136964287
NM_025114.4(CEP290):c.579_580del (p.Leu194fs)
NM_025114.4(CEP290):c.57C>G (p.Pro19=)
NM_025114.4(CEP290):c.57C>T (p.Pro19=)
NM_025114.4(CEP290):c.5801G>A (p.Gly1934Glu)
NM_025114.4(CEP290):c.5802G>A (p.Gly1934=)
NM_025114.4(CEP290):c.5803G>A (p.Glu1935Lys)
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5805A>G (p.Glu1935=) rs2136964084
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5805dup (p.Val1936fs)
NM_025114.4(CEP290):c.5810T>C (p.Phe1937Ser) rs2035398253
NM_025114.4(CEP290):c.5811T>C (p.Phe1937=)
NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile) rs2035397823
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5816dup (p.Leu1939fs)
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.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
NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro) rs775716868
NM_153704.6(TMEM67):c.476C>T (p.Ser159Phe)
NM_153704.6(TMEM67):c.485T>C (p.Val162Ala)
NM_153704.6(TMEM67):c.48C>T (p.Leu16=)
NM_153704.6(TMEM67):c.497T>C (p.Leu166Ser) rs1812963679
NM_153704.6(TMEM67):c.499G>A (p.Gly167Arg) rs2130576945
NM_153704.6(TMEM67):c.506+10G>A
NM_153704.6(TMEM67):c.506+13A>T rs2130577066
NM_153704.6(TMEM67):c.506+17G>C
NM_153704.6(TMEM67):c.506+5G>A
NM_153704.6(TMEM67):c.506+9T>G
NM_153704.6(TMEM67):c.507-10T>C
NM_153704.6(TMEM67):c.507-11A>G
NM_153704.6(TMEM67):c.507-14G>T
NM_153704.6(TMEM67):c.507-16T>G
NM_153704.6(TMEM67):c.507-9A>G
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter) rs1563672487
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.522G>A (p.Glu174=)
NM_153704.6(TMEM67):c.531T>G (p.Phe177Leu) rs1813038272
NM_153704.6(TMEM67):c.546G>A (p.Arg182=) rs2130585586
NM_153704.6(TMEM67):c.55G>T (p.Ala19Ser) rs1300371747
NM_153704.6(TMEM67):c.565C>T (p.Pro189Ser)
NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)
NM_153704.6(TMEM67):c.576+11C>A
NM_153704.6(TMEM67):c.576+16T>C
NM_153704.6(TMEM67):c.576+17T>C
NM_153704.6(TMEM67):c.576+2T>C
NM_153704.6(TMEM67):c.576+9A>G rs2130585836
NM_153704.6(TMEM67):c.577-11T>C
NM_153704.6(TMEM67):c.577-12T>A
NM_153704.6(TMEM67):c.577-12_577-1delinsAA
NM_153704.6(TMEM67):c.577-20T>C
NM_153704.6(TMEM67):c.577-4del
NM_153704.6(TMEM67):c.577-8T>C
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153704.6(TMEM67):c.57C>A (p.Ala19=) rs749429162
NM_153704.6(TMEM67):c.588A>T (p.Leu196Phe)
NM_153704.6(TMEM67):c.594C>T (p.Phe198=) rs149290663
NM_153704.6(TMEM67):c.619C>T (p.Arg207Cys)
NM_153704.6(TMEM67):c.651+12T>G
NM_153704.6(TMEM67):c.651+15A>G
NM_153704.6(TMEM67):c.651+17T>C rs926157464
NM_153704.6(TMEM67):c.651+17T>G rs926157464
NM_153704.6(TMEM67):c.651+18T>C
NM_153704.6(TMEM67):c.651+19T>C
NM_153704.6(TMEM67):c.651+22del
NM_153704.6(TMEM67):c.651+8T>C
NM_153704.6(TMEM67):c.652-18G>A rs1198930533
NM_153704.6(TMEM67):c.652-8G>T
NM_153704.6(TMEM67):c.654C>G (p.Gly218=)
NM_153704.6(TMEM67):c.654C>T (p.Gly218=)
NM_153704.6(TMEM67):c.666T>A (p.Thr222=)
NM_153704.6(TMEM67):c.66G>A (p.Val22=)
NM_153704.6(TMEM67):c.675G>C (p.Trp225Cys)
NM_153704.6(TMEM67):c.679G>A (p.Ala227Thr) rs767886819
NM_153704.6(TMEM67):c.67A>G (p.Thr23Ala) rs2130521457
NM_153704.6(TMEM67):c.67A>T (p.Thr23Ser)
NM_153704.6(TMEM67):c.683_689del (p.Lys228fs) rs2130622403
NM_153704.6(TMEM67):c.687T>C (p.Tyr229=)
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_153704.6(TMEM67):c.695C>T (p.Ser232Leu) rs2130622470
NM_153704.6(TMEM67):c.69C>G (p.Thr23=)
NM_153704.6(TMEM67):c.708A>G (p.Ala236=)
NM_153704.6(TMEM67):c.714+11A>G
NM_153704.6(TMEM67):c.714+14T>C
NM_153704.6(TMEM67):c.714+4A>G
NM_153704.6(TMEM67):c.714+7T>C rs2130622573
NM_153704.6(TMEM67):c.714G>A (p.Trp238Ter) rs1038920023
NM_153704.6(TMEM67):c.715-12G>A
NM_153704.6(TMEM67):c.715-12G>T
NM_153704.6(TMEM67):c.715-13T>C
NM_153704.6(TMEM67):c.715-4G>C rs560467218
NM_153704.6(TMEM67):c.715-8T>C
NM_153704.6(TMEM67):c.71C>T (p.Ala24Val)
NM_153704.6(TMEM67):c.720T>C (p.Tyr240=)
NM_153704.6(TMEM67):c.722C>T (p.Ala241Val) rs115766095
NM_153704.6(TMEM67):c.731C>T (p.Thr244Ile) rs1405448469
NM_153704.6(TMEM67):c.741A>G (p.Gln247=)
NM_153704.6(TMEM67):c.744T>C (p.Ala248=)
NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
NM_153704.6(TMEM67):c.754A>G (p.Met252Val)
NM_153704.6(TMEM67):c.756G>C (p.Met252Ile) rs2130662628
NM_153704.6(TMEM67):c.757T>G (p.Cys253Gly)
NM_153704.6(TMEM67):c.786T>C (p.Phe262=) rs1222482768
NM_153704.6(TMEM67):c.789C>T (p.Ala263=)
NM_153704.6(TMEM67):c.793T>G (p.Phe265Val)
NM_153704.6(TMEM67):c.796G>C (p.Asp266His)
NM_153704.6(TMEM67):c.801A>G (p.Ala267=)
NM_153704.6(TMEM67):c.810A>G (p.Leu270=)
NM_153704.6(TMEM67):c.816G>C (p.Gln272His)
NM_153704.6(TMEM67):c.820A>C (p.Ile274Leu) rs748922044
NM_153704.6(TMEM67):c.840A>C (p.Gly280=)
NM_153704.6(TMEM67):c.840A>G (p.Gly280=)
NM_153704.6(TMEM67):c.846C>T (p.Ser282=) rs1813782763
NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile) rs747533371
NM_153704.6(TMEM67):c.849T>G (p.Thr283=)
NM_153704.6(TMEM67):c.854A>T (p.His285Leu)
NM_153704.6(TMEM67):c.859A>G (p.Ile287Val)
NM_153704.6(TMEM67):c.869+17T>C
NM_153704.6(TMEM67):c.869+17T>G
NM_153704.6(TMEM67):c.869+18G>C
NM_153704.6(TMEM67):c.869+1G>C
NM_153704.6(TMEM67):c.869+20T>C
NM_153704.6(TMEM67):c.869+3A>T rs1813784101
NM_153704.6(TMEM67):c.869G>A (p.Trp290Ter)
NM_153704.6(TMEM67):c.870-16T>C
NM_153704.6(TMEM67):c.870-8G>A
NM_153704.6(TMEM67):c.877_880del (p.Asn293fs)
NM_153704.6(TMEM67):c.897T>C (p.Tyr299=)
NM_153704.6(TMEM67):c.905A>G (p.Gln302Arg) rs2130664380
NM_153704.6(TMEM67):c.924_925insTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGGATTAGCACCTCAA (p.Val309Ter) rs2130664400
NM_153704.6(TMEM67):c.92C>T (p.Pro31Leu)
NM_153704.6(TMEM67):c.937A>G (p.Thr313Ala)
NM_153704.6(TMEM67):c.939C>T (p.Thr313=)
NM_153704.6(TMEM67):c.949A>T (p.Thr317Ser)
NM_153704.6(TMEM67):c.94C>A (p.Arg32Ser)
NM_153704.6(TMEM67):c.952A>G (p.Asn318Asp)
NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)
NM_153704.6(TMEM67):c.972A>G (p.Glu324=) rs2130664789
NM_153704.6(TMEM67):c.978+12T>C rs2130664875
NM_153704.6(TMEM67):c.978+14A>G
NM_153704.6(TMEM67):c.978+17T>C
NM_153704.6(TMEM67):c.978+1G>A rs1563458773
NM_153704.6(TMEM67):c.978+3A>G rs775256658
NM_153704.6(TMEM67):c.979-15G>A
NM_153704.6(TMEM67):c.979-18C>T
NM_153704.6(TMEM67):c.982A>T (p.Thr328Ser) rs2130668443
NM_153704.6(TMEM67):c.990G>A (p.Leu330=)
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=)
NM_153704.6(TMEM67):c.9G>A (p.Thr3=) rs774376361
Single allele

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