ClinVar Miner

List of variants reported as likely benign for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4660
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HGVS dbSNP gnomAD frequency
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.36518
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
NM_024809.5(TCTN2):c.-55C>A rs78846567 0.03708
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956 0.02787
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_015681.6(B9D1):c.580T>C (p.Leu194=) rs7212549 0.01478
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NC_000016.10:g.75556260C>T rs115739052 0.01305
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_024809.5(TCTN2):c.*67C>T rs112214860 0.01216
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01103
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp) rs73980038 0.01073
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
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_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
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_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_024809.5(TCTN2):c.1505+3G>C rs111574617 0.00377
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_014875.3(KIF14):c.4842C>T (p.Asp1614=) rs12024960 0.00284
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_014875.3(KIF14):c.1087G>A (p.Val363Ile) rs77828651 0.00249
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_030578.4(B9D2):c.88+6C>T rs112498529 0.00205
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117 0.00196
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg) rs114568905 0.00194
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_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_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_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_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 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_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_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_153240.5(NPHP3):c.3570+9G>T rs112749193 0.00121
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923 0.00108
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.3701+19A>C rs199926524 0.00099
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 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_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_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_015272.5(RPGRIP1L):c.3300C>T (p.Leu1100=) rs190706759 0.00077
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_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331 0.00071
NM_015272.5(RPGRIP1L):c.3313G>A (p.Gly1105Arg) rs528501990 0.00070
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391 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_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
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.960C>T (p.Cys320=) rs145970332 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 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_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) rs368907353 0.00048
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_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_153240.5(NPHP3):c.393+18C>T rs367765709 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_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 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_001378615.1(CC2D2A):c.4315-13T>C rs377685137 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_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.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 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_030578.4(B9D2):c.336G>A (p.Thr112=) rs139072904 0.00027
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 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_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=) rs144924117 0.00025
NM_015681.6(B9D1):c.360C>T (p.Pro120=) rs139682891 0.00025
NM_001077418.3(TMEM231):c.139+42G>A rs375718217 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_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.4182G>A (p.Val1394=) rs371530941 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.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_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001378615.1(CC2D2A):c.2270C>A (p.Ala757Asp) rs377188181 0.00021
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 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_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_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.438+12C>T rs1000442477 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_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_153240.5(NPHP3):c.3812+16A>G rs376029054 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_015272.5(RPGRIP1L):c.3221-19C>T rs372929131 0.00017
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 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.351G>A (p.Ser117=) rs370781583 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_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.718-10C>T rs182383712 0.00015
NM_025114.4(CEP290):c.6522+15T>C rs1050903820 0.00015
NM_153240.5(NPHP3):c.3126-8T>G rs201592109 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.1671C>A (p.Ser557=) rs200067409 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 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.530-15T>C rs368728064 0.00014
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys) rs200340896 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_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.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.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025114.4(CEP290):c.6876C>T (p.Ser2292=) rs538590274 0.00013
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=) rs201015677 0.00013
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_001082538.3(TCTN1):c.823-6A>G rs377230085 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_017777.4(MKS1):c.515+8C>T rs376823839 0.00012
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=) rs377227262 0.00012
NM_153240.5(NPHP3):c.2883+16C>T rs376492280 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_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.332C>T (p.Ala111Val) rs137878385 0.00011
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) rs556542553 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_015681.6(B9D1):c.479G>A (p.Arg160His) rs538949071 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.588G>A (p.Thr196=) rs201545344 0.00011
NM_025114.4(CEP290):c.3195G>A (p.Lys1065=) rs778596948 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_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.4303G>A (p.Gly1435Ser) rs56265649 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_025114.4(CEP290):c.298-15G>T rs756197493 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.6005A>G (p.Tyr2002Cys) rs573872325 0.00010
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=) rs751840699 0.00009
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535 0.00009
NM_001378615.1(CC2D2A):c.1598T>C (p.Val533Ala) rs777351655 0.00009
NM_001378615.1(CC2D2A):c.2182-8G>A rs370731685 0.00009
NM_001378615.1(CC2D2A):c.3772-4G>A rs369928983 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_017777.4(MKS1):c.1338G>A (p.Arg446=) rs1179924577 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 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.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_153240.5(NPHP3):c.2931A>G (p.Leu977=) rs146316936 0.00009
NM_153704.6(TMEM67):c.978+19A>G rs575288126 0.00009
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.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.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_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.624C>T (p.Tyr208=) rs368594302 0.00007
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898 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.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=) rs762143074 0.00007
NM_017777.4(MKS1):c.1134A>G (p.Glu378=) rs77365082 0.00007
NM_017777.4(MKS1):c.468C>T (p.Val156=) rs199684837 0.00007
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223 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.2907+9T>C rs372865972 0.00007
NM_153704.6(TMEM67):c.69C>T (p.Thr23=) rs745801674 0.00007
NM_001077418.3(TMEM231):c.210G>T (p.Val70=) rs757361739 0.00006
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) rs776287219 0.00006
NM_001077418.3(TMEM231):c.665-19G>A rs200581224 0.00006
NM_001082538.3(TCTN1):c.162C>T (p.Pro54=) rs751912758 0.00006
NM_001082538.3(TCTN1):c.672G>A (p.Ser224=) rs763386832 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.1689C>T (p.His563=) rs755367503 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.3381A>G (p.Glu1127=) rs373780145 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.1872T>C (p.Ser624=) rs149464542 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.1914A>G (p.Thr638=) rs769763960 0.00006
NM_024809.5(TCTN2):c.764+19G>A rs371865300 0.00006
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440 0.00006
NM_025114.4(CEP290):c.1712-14T>A rs765835575 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 0.00006
NM_025114.4(CEP290):c.5012+15T>C rs538803349 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.6522+7T>G rs754878322 0.00006
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_153240.5(NPHP3):c.141A>T (p.Arg47=) rs774866337 0.00006
NM_153240.5(NPHP3):c.1887+17del rs772091214 0.00006
NM_153704.6(TMEM67):c.1961-19A>G rs996724179 0.00006
NM_153704.6(TMEM67):c.2175T>C (p.Ala725=) rs368159329 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.652-13T>C rs376654537 0.00006
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507 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_001077418.3(TMEM231):c.672C>T (p.Thr224=) rs769897831 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.258A>G (p.Pro86=) rs199909714 0.00005
NM_001378615.1(CC2D2A):c.282C>T (p.Gly94=) rs182119485 0.00005
NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu) rs766400907 0.00005
NM_001378615.1(CC2D2A):c.845A>C (p.Glu282Ala) rs760099299 0.00005
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) rs143189638 0.00005
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.883-7C>A rs372349467 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_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.441+18T>C rs756876705 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_153240.5(NPHP3):c.3126-4T>A rs746873186 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_001077418.3(TMEM231):c.139+27C>T rs773052053 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.665-10T>C rs201237881 0.00004
NM_001077418.3(TMEM231):c.759G>A (p.Val253=) rs1020757759 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.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.1116C>A (p.Ser372Arg) rs760839591 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.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.2843G>A (p.Arg948Gln) rs532411276 0.00004
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=) rs779304750 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.4452T>A (p.Ile1484=) rs373762896 0.00004
NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln) rs745699870 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.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.1582-11T>G rs182981308 0.00004
NM_015272.5(RPGRIP1L):c.1699+11T>C rs189805541 0.00004
NM_015272.5(RPGRIP1L):c.201T>C (p.His67=) rs762755851 0.00004
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=) rs145807002 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.3717G>A (p.Val1239=) rs989489575 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_015681.6(B9D1):c.33C>T (p.Leu11=) rs751480715 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.191-6T>G rs748412372 0.00004
NM_017777.4(MKS1):c.261+20C>A rs370117635 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_024809.5(TCTN2):c.1329G>A (p.Lys443=) rs543166165 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.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.83-16T>G rs1223559773 0.00004
NM_024809.5(TCTN2):c.960C>T (p.Cys320=) rs145332333 0.00004
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00004
NM_025114.4(CEP290):c.1905T>C (p.Asn635=) rs778341097 0.00004
NM_025114.4(CEP290):c.204G>A (p.Leu68=) rs780930630 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.2244T>C (p.Ser748=) rs979564116 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.3273G>A (p.Glu1091=) rs771584252 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.3810A>G (p.Leu1270=) rs769060806 0.00004
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=) rs779186037 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.5896A>G (p.Thr1966Ala) rs780570235 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 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_153240.5(NPHP3):c.3399C>T (p.Asp1133=) rs766231228 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.261C>T (p.Ile87=) rs190249177 0.00004
NM_153704.6(TMEM67):c.2765-12T>A rs1232793342 0.00004
NM_153704.6(TMEM67):c.313-19T>C rs748779738 0.00004
NM_153704.6(TMEM67):c.507-16T>C rs367547273 0.00004
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=) rs534627748 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.1350G>A (p.Pro450=) rs781366326 0.00003
NM_001082538.3(TCTN1):c.1494+20G>A rs1024500142 0.00003
NM_001082538.3(TCTN1):c.21G>T (p.Pro7=) rs760813360 0.00003
NM_001082538.3(TCTN1):c.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.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.2181+17T>C rs1016233369 0.00003
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755 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.2922+16T>C rs767460385 0.00003
NM_001378615.1(CC2D2A):c.3084G>C (p.Arg1028=) rs373698524 0.00003
NM_001378615.1(CC2D2A):c.3153C>T (p.Tyr1051=) rs373671064 0.00003
NM_001378615.1(CC2D2A):c.388C>T (p.Arg130Cys) rs886042463 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.439-13T>G rs1305181844 0.00003
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) rs200044412 0.00003
NM_001378615.1(CC2D2A):c.948C>T (p.Thr316=) rs201439700 0.00003
NM_015272.5(RPGRIP1L):c.1103+7C>T rs761579460 0.00003
NM_015272.5(RPGRIP1L):c.1104-14C>T rs763897513 0.00003
NM_015272.5(RPGRIP1L):c.1351-7A>G rs559918716 0.00003
NM_015272.5(RPGRIP1L):c.2103C>T (p.His701=) rs540930741 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.2875-19A>G rs370091137 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.529+17G>A rs754295905 0.00003
NM_015272.5(RPGRIP1L):c.530-7T>C rs780569188 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_015681.6(B9D1):c.381G>A (p.Thr127=) rs755165652 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.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.1408-15A>G rs762989365 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.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.858+7G>A rs918270665 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.271G>T (p.Val91Leu) rs371662397 0.00003
NM_024809.5(TCTN2):c.444T>C (p.Ser148=) rs771060074 0.00003
NM_024809.5(TCTN2):c.630C>T (p.Asp210=) rs560269152 0.00003
NM_024809.5(TCTN2):c.83-9C>G rs775671051 0.00003
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.2368-7T>C rs1470044444 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.3843A>G (p.Ala1281=) rs777382672 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.5271A>C (p.Ala1757=) rs368906813 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.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7034+10G>A rs1057522783 0.00003
NM_025114.4(CEP290):c.852+14T>C rs571313482 0.00003
NM_153704.6(TMEM67):c.1412+18G>T rs771301847 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.652-16A>G rs569346767 0.00003
NM_153704.6(TMEM67):c.978+13A>G rs760659884 0.00003
NM_001077418.3(TMEM231):c.140-35C>T rs750621210 0.00002
NM_001077418.3(TMEM231):c.309+20G>T rs1186787656 0.00002
NM_001077418.3(TMEM231):c.456G>A (p.Val152=) rs571562822 0.00002
NM_001077418.3(TMEM231):c.582+9G>A rs1266194059 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.1740T>C (p.Asn580=) rs376626018 0.00002
NM_001082538.3(TCTN1):c.237C>G (p.Val79=) rs374598052 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.954C>T (p.Ser318=) rs372535670 0.00002
NM_001378615.1(CC2D2A):c.1000T>C (p.Leu334=) rs780534369 0.00002
NM_001378615.1(CC2D2A):c.1140G>A (p.Leu380=) rs373742688 0.00002
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=) rs368116362 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.2003+16G>A rs746051826 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.2626-12C>T rs571780110 0.00002
NM_001378615.1(CC2D2A):c.2830-18G>A rs969121617 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.3132G>A (p.Leu1044=) rs929422473 0.00002
NM_001378615.1(CC2D2A):c.3183-17T>C rs961448334 0.00002
NM_001378615.1(CC2D2A):c.3771+11A>C rs955623216 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4080C>T (p.Leu1360=) rs777093551 0.00002
NM_001378615.1(CC2D2A):c.648G>A (p.Ala216=) rs1415780433 0.00002
NM_001378615.1(CC2D2A):c.891T>C (p.Tyr297=) rs797045438 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.1770T>C (p.Ser590=) rs966605945 0.00002
NM_015272.5(RPGRIP1L):c.1881A>G (p.Lys627=) rs774731949 0.00002
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=) rs778885314 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.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.2757T>C (p.Ala919=) rs758167588 0.00002
NM_015272.5(RPGRIP1L):c.2814C>T (p.Ser938=) rs192512050 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.3141A>C (p.Leu1047=) rs1313737236 0.00002
NM_015272.5(RPGRIP1L):c.3294+13A>G rs756969381 0.00002
NM_015272.5(RPGRIP1L):c.3777C>T (p.His1259=) rs750716320 0.00002
NM_015272.5(RPGRIP1L):c.529+16C>T rs765320880 0.00002
NM_015272.5(RPGRIP1L):c.654A>G (p.Gln218=) rs1404574894 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_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.1353C>T (p.Gly451=) rs764549118 0.00002
NM_017777.4(MKS1):c.1392A>T (p.Ile464=) rs1160063124 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.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.858+19C>T rs367750788 0.00002
NM_017777.4(MKS1):c.993C>T (p.Tyr331=) rs552668070 0.00002
NM_024809.5(TCTN2):c.1794C>T (p.Tyr598=) rs193008632 0.00002
NM_024809.5(TCTN2):c.191-15G>A rs780792228 0.00002
NM_024809.5(TCTN2):c.210G>T (p.Thr70=) rs1196817536 0.00002
NM_024809.5(TCTN2):c.510T>C (p.Pro170=) rs769707766 0.00002
NM_024809.5(TCTN2):c.642T>C (p.Pro214=) rs747382089 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.1113A>G (p.Val371=) rs370095967 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.1712-5T>C rs994843668 0.00002
NM_025114.4(CEP290):c.2211T>C (p.Asn737=) rs763182158 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.3310-9T>C rs752729387 0.00002
NM_025114.4(CEP290):c.3402T>C (p.Asp1134=) rs976423527 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.4107A>G (p.Lys1369=) rs1380584703 0.00002
NM_025114.4(CEP290):c.4123T>C (p.Leu1375=) rs368322148 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.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.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.5379T>C (p.Asp1793=) rs1031513373 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=) rs1481341836 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.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.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.6818+9A>G rs748162184 0.00002
NM_025114.4(CEP290):c.735G>A (p.Glu245=) rs917730125 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_153240.5(NPHP3):c.1308A>G (p.Gly436=) rs777911324 0.00002
NM_153240.5(NPHP3):c.3813-10T>C rs372263313 0.00002
NM_153704.6(TMEM67):c.1836T>C (p.Tyr612=) rs767820112 0.00002
NM_153704.6(TMEM67):c.1860+19G>A rs373634556 0.00002
NM_153704.6(TMEM67):c.1961-20C>A rs150209047 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.312+19A>T rs777205068 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092 0.00001
NM_001077418.3(TMEM231):c.139+24C>T rs746632596 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.513C>T (p.Tyr171=) rs751631216 0.00001
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=) rs748111030 0.00001
NM_001077418.3(TMEM231):c.583-10C>T rs774265542 0.00001
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=) rs959165450 0.00001
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=) rs750043051 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.915G>A (p.Thr305=) rs759314500 0.00001
NM_001082538.3(TCTN1):c.1209C>T (p.Thr403=) rs1195048348 0.00001
NM_001082538.3(TCTN1):c.1287C>T (p.Thr429=) rs746097128 0.00001
NM_001082538.3(TCTN1):c.1332-17C>A rs763909645 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.1636-5T>C rs1250840241 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.1749G>T (p.Leu583=) rs1228988444 0.00001
NM_001082538.3(TCTN1):c.297C>T (p.Ser99=) rs199654159 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.705C>T (p.Asn235=) rs752181429 0.00001
NM_001082538.3(TCTN1):c.714G>A (p.Ala238=) rs200574241 0.00001
NM_001082538.3(TCTN1):c.823-4C>G rs754017886 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.933C>T (p.Leu311=) rs748696458 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.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.1209T>C (p.Asn403=) rs764983506 0.00001
NM_001378615.1(CC2D2A):c.1299G>A (p.Gln433=) rs1717581475 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.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.1836C>T (p.Pro612=) rs763567590 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.1927A>C (p.Arg643=) rs1048216556 0.00001
NM_001378615.1(CC2D2A):c.2004-17A>G rs759192059 0.00001
NM_001378615.1(CC2D2A):c.2061G>A (p.Leu687=) rs182372139 0.00001
NM_001378615.1(CC2D2A):c.2103A>G (p.Leu701=) rs1236071005 0.00001
NM_001378615.1(CC2D2A):c.2184C>T (p.Val728=) rs1718959533 0.00001
NM_001378615.1(CC2D2A):c.2400A>G (p.Lys800=) rs371834330 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+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.2580C>T (p.Leu860=) rs955087884 0.00001
NM_001378615.1(CC2D2A):c.2652C>G (p.Val884=) rs944541785 0.00001
NM_001378615.1(CC2D2A):c.279A>G (p.Thr93=) rs987594766 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.2923-9T>C rs753188706 0.00001
NM_001378615.1(CC2D2A):c.2994A>G (p.Glu998=) rs1044670589 0.00001
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=) rs886044669 0.00001
NM_001378615.1(CC2D2A):c.3114T>C (p.Asp1038=) rs781371086 0.00001
NM_001378615.1(CC2D2A):c.3126G>A (p.Lys1042=) rs767804652 0.00001
NM_001378615.1(CC2D2A):c.3144G>A (p.Val1048=) rs1185288924 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.3249G>A (p.Thr1083=) rs200431110 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.3398+7A>G rs772784324 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.3595-11T>A rs1476484459 0.00001
NM_001378615.1(CC2D2A):c.3772-5_3772-4del rs1484994421 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.3996G>A (p.Val1332=) rs751553707 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.4197G>A (p.Val1399=) rs897543991 0.00001
NM_001378615.1(CC2D2A):c.4200A>G (p.Leu1400=) rs1720998446 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+9T>C rs775606863 0.00001
NM_001378615.1(CC2D2A):c.439-5T>A rs369244755 0.00001
NM_001378615.1(CC2D2A):c.4438-4A>G rs1463104948 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.4551T>C (p.Thr1517=) rs756862259 0.00001
NM_001378615.1(CC2D2A):c.4599G>A (p.Leu1533=) rs556117615 0.00001
NM_001378615.1(CC2D2A):c.4674+13T>C rs1216887028 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.4680T>C (p.Ser1560=) rs752706778 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.541-6C>T rs757151024 0.00001
NM_001378615.1(CC2D2A):c.576T>C (p.Tyr192=) rs536646769 0.00001
NM_001378615.1(CC2D2A):c.707G>A (p.Gly236Glu) rs773437112 0.00001
NM_001378615.1(CC2D2A):c.717+8A>G rs1716564777 0.00001
NM_001378615.1(CC2D2A):c.832C>A (p.Arg278=) rs372873919 0.00001
NM_001378615.1(CC2D2A):c.880+7G>A rs1445614932 0.00001
NM_001378615.1(CC2D2A):c.930A>G (p.Glu310=) rs1256968285 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_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.1092A>G (p.Lys364=) rs766514324 0.00001
NM_015272.5(RPGRIP1L):c.1095T>C (p.Leu365=) rs201763037 0.00001
NM_015272.5(RPGRIP1L):c.1128G>A (p.Glu376=) rs779375492 0.00001
NM_015272.5(RPGRIP1L):c.1155G>C (p.Leu385=) rs536376284 0.00001
NM_015272.5(RPGRIP1L):c.1176C>T (p.Leu392=) rs759115653 0.00001
NM_015272.5(RPGRIP1L):c.1203A>G (p.Thr401=) rs1158246946 0.00001
NM_015272.5(RPGRIP1L):c.1311A>G (p.Gln437=) rs1033613104 0.00001
NM_015272.5(RPGRIP1L):c.1338A>G (p.Lys446=) rs754700219 0.00001
NM_015272.5(RPGRIP1L):c.1402-13T>G rs940616503 0.00001
NM_015272.5(RPGRIP1L):c.147A>G (p.Glu49=) rs748560707 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.1700-7C>T rs1211017142 0.00001
NM_015272.5(RPGRIP1L):c.1755C>A (p.Ile585=) rs767506927 0.00001
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646 0.00001
NM_015272.5(RPGRIP1L):c.1863A>G (p.Leu621=) rs765009772 0.00001
NM_015272.5(RPGRIP1L):c.1902C>T (p.Thr634=) rs138097384 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.2121C>T (p.Ser707=) rs771201854 0.00001
NM_015272.5(RPGRIP1L):c.2153-6T>C rs371576599 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2316A>G (p.Gln772=) rs1013531093 0.00001
NM_015272.5(RPGRIP1L):c.2337C>T (p.Leu779=) rs1966519480 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.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.2522A>G (p.His841Arg) rs766357656 0.00001
NM_015272.5(RPGRIP1L):c.2535A>G (p.Pro845=) rs1357658306 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.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.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.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.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.3099T>C (p.Asn1033=) rs1309372176 0.00001
NM_015272.5(RPGRIP1L):c.3132G>A (p.Val1044=) rs201711256 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.3330C>T (p.Ser1110=) rs1304423187 0.00001
NM_015272.5(RPGRIP1L):c.3333G>A (p.Ala1111=) rs1017593402 0.00001
NM_015272.5(RPGRIP1L):c.3516G>A (p.Leu1172=) rs1388851938 0.00001
NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=) rs1253988919 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.3673C>T (p.Leu1225=) rs1189160289 0.00001
NM_015272.5(RPGRIP1L):c.3701+12C>A rs931566897 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.3768C>T (p.Gly1256=) rs780364836 0.00001
NM_015272.5(RPGRIP1L):c.3783C>T (p.Asp1261=) rs1245403227 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.387C>T (p.Leu129=) rs752951179 0.00001
NM_015272.5(RPGRIP1L):c.393C>T (p.Asn131=) rs759792690 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.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.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.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.315C>T (p.Ala105=) rs776662206 0.00001
NM_015681.6(B9D1):c.321C>T (p.His107=) rs377672945 0.00001
NM_015681.6(B9D1):c.342-12C>T rs1365103687 0.00001
NM_015681.6(B9D1):c.472+16C>G rs375227607 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.102A>G (p.Thr34=) rs886053171 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.1095+13A>T rs970409292 0.00001
NM_017777.4(MKS1):c.1095+19G>A rs200731008 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.114T>C (p.Phe38=) rs375861391 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 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.1299G>A (p.Thr433=) rs749503564 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.1479G>A (p.Leu493=) rs376833168 0.00001
NM_017777.4(MKS1):c.1490+13G>A rs1261119858 0.00001
NM_017777.4(MKS1):c.1589-12C>T rs377376912 0.00001
NM_017777.4(MKS1):c.1589-7C>T rs756418206 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.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.243G>A (p.Gln81=) rs1488924614 0.00001
NM_017777.4(MKS1):c.262-10G>T rs772852025 0.00001
NM_017777.4(MKS1):c.30C>A (p.Thr10=) rs576239597 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.522C>T (p.Gly174=) rs780657802 0.00001
NM_017777.4(MKS1):c.628C>T (p.Leu210=) rs1451406283 0.00001
NM_017777.4(MKS1):c.639T>C (p.Tyr213=) rs746647549 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.80+18G>A rs775676586 0.00001
NM_017777.4(MKS1):c.870G>A (p.Arg290=) rs769489826 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.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.1099+10G>A rs751385319 0.00001
NM_024809.5(TCTN2):c.1235-20T>A rs773929370 0.00001
NM_024809.5(TCTN2):c.1393+19T>C rs1434022811 0.00001
NM_024809.5(TCTN2):c.1476C>T (p.Val492=) rs755762894 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.1689C>T (p.His563=) rs763961375 0.00001
NM_024809.5(TCTN2):c.1824C>T (p.Ala608=) rs747771800 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.207G>A (p.Pro69=) rs775096865 0.00001
NM_024809.5(TCTN2):c.255G>C (p.Val85=) rs1244229343 0.00001
NM_024809.5(TCTN2):c.504T>C (p.Leu168=) rs1359077600 0.00001
NM_024809.5(TCTN2):c.723T>C (p.Leu241=) rs373992170 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_025114.4(CEP290):c.1002A>G (p.Leu334=) rs757621266 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.103-17C>T rs976920583 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.1066-4A>G rs2039668462 0.00001
NM_025114.4(CEP290):c.1107A>G (p.Glu369=) rs1202218217 0.00001
NM_025114.4(CEP290):c.1190-19T>C rs892306905 0.00001
NM_025114.4(CEP290):c.1190-8C>T rs764602507 0.00001
NM_025114.4(CEP290):c.1236G>A (p.Thr412=) rs534187846 0.00001
NM_025114.4(CEP290):c.1359+7A>T rs2039362896 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.1512A>G (p.Arg504=) rs1592639705 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.1596A>G (p.Arg532=) rs770310236 0.00001
NM_025114.4(CEP290):c.1623+13G>A rs746496743 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+8C>T rs765158159 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.1779A>G (p.Lys593=) rs374292851 0.00001
NM_025114.4(CEP290):c.180+9G>A rs2040617810 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.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.1992T>C (p.Asp664=) rs1430141121 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.2073A>G (p.Ala691=) rs766690438 0.00001
NM_025114.4(CEP290):c.2091G>A (p.Ala697=) rs1399023990 0.00001
NM_025114.4(CEP290):c.2127C>T (p.Thr709=) rs756894456 0.00001
NM_025114.4(CEP290):c.2205A>G (p.Lys735=) rs1398701243 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.2343T>C (p.Asn781=) rs748034744 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.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.2587-19T>C rs755086278 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.2688T>C (p.Leu896=) rs2038314751 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.2778T>C (p.Ala926=) rs767032720 0.00001
NM_025114.4(CEP290):c.2826C>G (p.Ala942=) rs1456663660 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.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.298-11A>G rs748232723 0.00001
NM_025114.4(CEP290):c.2991+11G>A rs1214417467 0.00001
NM_025114.4(CEP290):c.3006C>T (p.Ser1002=) rs748493455 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.306G>A (p.Gln102=) rs755418283 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.3180T>G (p.Thr1060=) rs552585004 0.00001
NM_025114.4(CEP290):c.3225T>C (p.His1075=) rs1238044392 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.3258G>A (p.Ser1086=) rs775973036 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.3342G>A (p.Val1114=) rs754811220 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.3561G>A (p.Leu1187=) rs771857714 0.00001
NM_025114.4(CEP290):c.3562C>T (p.Leu1188=) rs1241950761 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.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.3717G>A (p.Glu1239=) rs1159465602 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.4083A>G (p.Leu1361=) rs528988184 0.00001
NM_025114.4(CEP290):c.4131C>T (p.Asn1377=) rs1217345596 0.00001
NM_025114.4(CEP290):c.4251A>G (p.Gln1417=) rs775279240 0.00001
NM_025114.4(CEP290):c.4299A>G (p.Gln1433=) rs1457015763 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.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.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.4518G>A (p.Arg1506=) rs748296011 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.4734G>A (p.Glu1578=) rs1409082857 0.00001
NM_025114.4(CEP290):c.4812+9C>T rs747569970 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.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.4941A>G (p.Val1647=) rs776334632 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.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.517-17T>C rs760912729 0.00001
NM_025114.4(CEP290):c.5181A>T (p.Val1727=) rs1002651698 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.5385T>C (p.Asn1795=) rs1452561924 0.00001
NM_025114.4(CEP290):c.5442A>G (p.Ser1814=) rs1161234355 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.5586+9A>G rs746293904 0.00001
NM_025114.4(CEP290):c.5589C>A (p.Gly1863=) rs1391226067 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.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.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.5919G>A (p.Gln1973=) rs1231554118 0.00001
NM_025114.4(CEP290):c.597G>A (p.Gly199=) rs757015598 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6072C>T (p.Tyr2024=) rs779262951 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.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6207A>G (p.Ser2069=) rs1327169453 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.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.6525T>C (p.Ala2175=) rs2034343634 0.00001
NM_025114.4(CEP290):c.6555G>A (p.Gly2185=) rs1282398701 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 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.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.6819-10A>G rs150241790 0.00001
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=) rs759290213 0.00001
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=) rs768771609 0.00001
NM_025114.4(CEP290):c.7020G>A (p.Glu2340=) rs749716804 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.7197G>A (p.Lys2399=) rs779550219 0.00001
NM_025114.4(CEP290):c.7210-5A>T rs2033257006 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.7314T>C (p.Asn2438=) rs1555193066 0.00001
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=) rs1415533078 0.00001
NM_025114.4(CEP290):c.78T>C (p.Asp26=) rs2040639110 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 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_153240.5(NPHP3):c.1245T>G (p.Val415=) rs772276779 0.00001
NM_153240.5(NPHP3):c.1404G>A (p.Glu468=) rs770200607 0.00001
NM_153240.5(NPHP3):c.2259C>T (p.His753=) rs765940696 0.00001
NM_153240.5(NPHP3):c.237G>A (p.Ser79=) rs555921512 0.00001
NM_153240.5(NPHP3):c.2884-8C>T rs757300023 0.00001
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=) rs745568685 0.00001
NM_153240.5(NPHP3):c.3696+20C>T rs773940041 0.00001
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=) rs777264064 0.00001
NM_153240.5(NPHP3):c.671-14C>A rs370887292 0.00001
NM_153240.5(NPHP3):c.684A>G (p.Gln228=) rs1369748544 0.00001
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413 0.00001
NM_153704.6(TMEM67):c.1014T>C (p.Asp338=) rs766110263 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1576-9G>T rs760002634 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.1734C>T (p.Ile578=) rs774011311 0.00001
NM_153704.6(TMEM67):c.1773+14T>A rs1370201374 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.231A>G (p.Ser77=) rs769535902 0.00001
NM_153704.6(TMEM67):c.2323-12C>A rs1007807232 0.00001
NM_153704.6(TMEM67):c.2370T>C (p.His790=) rs1475347154 0.00001
NM_153704.6(TMEM67):c.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2557-11T>C rs370652713 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.2814T>C (p.Thr938=) rs777590979 0.00001
NM_153704.6(TMEM67):c.2907+15T>C rs1218036498 0.00001
NM_153704.6(TMEM67):c.582G>A (p.Gly194=) rs1230815674 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.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.869+11T>G rs759451327 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_001077418.3(TMEM231):c.-30C>A rs2080810566
NM_001077418.3(TMEM231):c.139+12C>T rs937269706
NM_001077418.3(TMEM231):c.139+39G>C rs1448302846
NM_001077418.3(TMEM231):c.139+48G>T rs1234390023
NM_001077418.3(TMEM231):c.139+9G>A
NM_001077418.3(TMEM231):c.140-29C>T
NM_001077418.3(TMEM231):c.140-2A>G rs1216670609
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.140-5C>T
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
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.219C>T (p.Leu73=)
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
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.255G>T (p.Thr85=) rs2151710642
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
NM_001077418.3(TMEM231):c.309+12C>T
NM_001077418.3(TMEM231):c.310-15G>C rs2151703201
NM_001077418.3(TMEM231):c.310-4C>G rs2080685365
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys) rs775329522
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.415C>T (p.Leu139=)
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=) rs2080683492
NM_001077418.3(TMEM231):c.438+13G>A rs780849828
NM_001077418.3(TMEM231):c.438+13G>T rs780849828
NM_001077418.3(TMEM231):c.439-11A>G
NM_001077418.3(TMEM231):c.439-20G>T
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=) rs1335128278
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
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.600G>A (p.Gly200=)
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.675C>A (p.Val225=)
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr) rs1344067825
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val) rs951457866
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
NM_001077418.3(TMEM231):c.770+20G>A
NM_001077418.3(TMEM231):c.771-17T>G
NM_001077418.3(TMEM231):c.771-4A>G
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=) rs754352443
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
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_001082538.3(TCTN1):c.1050A>G (p.Thr350=)
NM_001082538.3(TCTN1):c.1104+14A>G
NM_001082538.3(TCTN1):c.1105-14G>C
NM_001082538.3(TCTN1):c.1119A>T (p.Pro373=) rs2136135794
NM_001082538.3(TCTN1):c.1125T>C (p.Pro375=)
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.1233T>A (p.Thr411=)
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.1386G>A (p.Leu462=)
NM_001082538.3(TCTN1):c.1386G>T (p.Leu462=)
NM_001082538.3(TCTN1):c.1425A>C (p.Gly475=)
NM_001082538.3(TCTN1):c.1434G>A (p.Gln478=) rs2136172368
NM_001082538.3(TCTN1):c.1479G>A (p.Gln493=)
NM_001082538.3(TCTN1):c.1494+10A>G
NM_001082538.3(TCTN1):c.1494+9G>A
NM_001082538.3(TCTN1):c.1495-15C>G
NM_001082538.3(TCTN1):c.1503T>G (p.Val501=) rs2067384815
NM_001082538.3(TCTN1):c.1524C>T (p.Leu508=)
NM_001082538.3(TCTN1):c.1599T>C (p.Asn533=) rs2136196716
NM_001082538.3(TCTN1):c.159C>T (p.Pro53=)
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.1636-20C>G
NM_001082538.3(TCTN1):c.1671C>T (p.Ser557=) rs200067409
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.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.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.221-8_221-7del
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.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.363T>C (p.Ser121=)
NM_001082538.3(TCTN1):c.396A>C (p.Thr132=)
NM_001082538.3(TCTN1):c.39C>G (p.Leu13=)
NM_001082538.3(TCTN1):c.402C>T (p.Asn134=)
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.532T>C (p.Leu178=)
NM_001082538.3(TCTN1):c.585C>T (p.Phe195=) rs774402021
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.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.823-13T>C
NM_001082538.3(TCTN1):c.823-17G>C
NM_001082538.3(TCTN1):c.843+8TATT[2] rs775925984
NM_001082538.3(TCTN1):c.844-10C>T rs1565998186
NM_001082538.3(TCTN1):c.84G>A (p.Pro28=) rs777519512
NM_001082538.3(TCTN1):c.84G>C (p.Pro28=)
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.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_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692
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+7G>T rs137919504
NM_001378615.1(CC2D2A):c.1018-14T>C
NM_001378615.1(CC2D2A):c.1018-18C>T
NM_001378615.1(CC2D2A):c.1018-20T>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.1044C>T (p.Gly348=)
NM_001378615.1(CC2D2A):c.1068C>T (p.Pro356=) rs2109013744
NM_001378615.1(CC2D2A):c.1071C>T (p.Ile357=)
NM_001378615.1(CC2D2A):c.1092G>A (p.Pro364=)
NM_001378615.1(CC2D2A):c.1092G>T (p.Pro364=) rs774216288
NM_001378615.1(CC2D2A):c.1098A>T (p.Val366=)
NM_001378615.1(CC2D2A):c.1101A>G (p.Leu367=)
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.1127_1128delinsCA (p.Glu376Ala)
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.119A>C (p.Lys40Thr)
NM_001378615.1(CC2D2A):c.1203T>C (p.Pro401=) rs940435544
NM_001378615.1(CC2D2A):c.1218G>C (p.Leu406=)
NM_001378615.1(CC2D2A):c.123+16A>G
NM_001378615.1(CC2D2A):c.123+23_123+24del rs960925783
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.124-9T>C
NM_001378615.1(CC2D2A):c.124-9_124-7del
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.12G>A (p.Arg4=)
NM_001378615.1(CC2D2A):c.1305T>C (p.Tyr435=)
NM_001378615.1(CC2D2A):c.1350T>C (p.Leu450=)
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+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.1365A>G (p.Gln455=)
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.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1422C>G (p.Leu474=) rs377448964
NM_001378615.1(CC2D2A):c.1425T>C (p.Asp475=)
NM_001378615.1(CC2D2A):c.1431C>A (p.Ile477=)
NM_001378615.1(CC2D2A):c.1452T>C (p.Tyr484=) rs2109025199
NM_001378615.1(CC2D2A):c.1466+13T>C
NM_001378615.1(CC2D2A):c.1466+14_1466+16del rs751142207
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.1467-20T>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.1485T>C (p.Arg495=)
NM_001378615.1(CC2D2A):c.1494A>G (p.Glu498=)
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys) rs765810643
NM_001378615.1(CC2D2A):c.1512A>G (p.Thr504=)
NM_001378615.1(CC2D2A):c.1524T>C (p.Thr508=)
NM_001378615.1(CC2D2A):c.1545G>A (p.Glu515=)
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.1607+19T>G
NM_001378615.1(CC2D2A):c.1607+24_1607+28del rs2109029956
NM_001378615.1(CC2D2A):c.1608-18C>A rs1303472925
NM_001378615.1(CC2D2A):c.1629A>C (p.Ala543=)
NM_001378615.1(CC2D2A):c.1638A>G (p.Glu546=)
NM_001378615.1(CC2D2A):c.165C>A (p.Ser55=)
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=) rs794727713
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.1692G>A (p.Thr564=)
NM_001378615.1(CC2D2A):c.1695G>A (p.Glu565=)
NM_001378615.1(CC2D2A):c.1710G>A (p.Lys570=)
NM_001378615.1(CC2D2A):c.1722C>T (p.Tyr574=)
NM_001378615.1(CC2D2A):c.1731G>T (p.Ser577=)
NM_001378615.1(CC2D2A):c.174C>T (p.Gly58=)
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.1765-20T>C rs1718218659
NM_001378615.1(CC2D2A):c.1765-24_1765-18del
NM_001378615.1(CC2D2A):c.1797A>G (p.Ala599=)
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.1863T>A (p.Pro621=)
NM_001378615.1(CC2D2A):c.1866A>C (p.Pro622=) rs1560171734
NM_001378615.1(CC2D2A):c.1872C>T (p.Pro624=)
NM_001378615.1(CC2D2A):c.1902G>A (p.Val634=) rs1293349023
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.1953C>G (p.Val651=)
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001378615.1(CC2D2A):c.1977C>T (p.Ser659=) rs2109035405
NM_001378615.1(CC2D2A):c.1986C>G (p.Pro662=)
NM_001378615.1(CC2D2A):c.1998C>T (p.Cys666=)
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.2004-6T>C
NM_001378615.1(CC2D2A):c.2010G>A (p.Glu670=)
NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=)
NM_001378615.1(CC2D2A):c.2040C>A (p.Arg680=)
NM_001378615.1(CC2D2A):c.2040C>G (p.Arg680=)
NM_001378615.1(CC2D2A):c.2049C>T (p.Tyr683=)
NM_001378615.1(CC2D2A):c.2058G>A (p.Val686=)
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.2106A>G (p.Gly702=)
NM_001378615.1(CC2D2A):c.2115C>T (p.Phe705=)
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.2154C>T (p.Val718=)
NM_001378615.1(CC2D2A):c.2163G>T (p.Pro721=)
NM_001378615.1(CC2D2A):c.2175A>G (p.Thr725=)
NM_001378615.1(CC2D2A):c.2178T>G (p.Leu726=)
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+20T>C
NM_001378615.1(CC2D2A):c.2182-11C>T
NM_001378615.1(CC2D2A):c.2182-11_2182-10del
NM_001378615.1(CC2D2A):c.2182-4T>C
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.2253T>C (p.Thr751=)
NM_001378615.1(CC2D2A):c.2259C>G (p.Val753=)
NM_001378615.1(CC2D2A):c.2268G>A (p.Arg756=)
NM_001378615.1(CC2D2A):c.2277T>C (p.Thr759=)
NM_001378615.1(CC2D2A):c.2322C>T (p.His774=)
NM_001378615.1(CC2D2A):c.2338+14A>G
NM_001378615.1(CC2D2A):c.2338+14del rs1560178133
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.2367C>A (p.Gly789=)
NM_001378615.1(CC2D2A):c.2397G>A (p.Gly799=) rs1577370765
NM_001378615.1(CC2D2A):c.2403G>A (p.Val801=)
NM_001378615.1(CC2D2A):c.2415G>A (p.Val805=)
NM_001378615.1(CC2D2A):c.2445T>C (p.Pro815=)
NM_001378615.1(CC2D2A):c.2458T>C (p.Leu820=)
NM_001378615.1(CC2D2A):c.2469G>A (p.Gln823=)
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+9C>G
NM_001378615.1(CC2D2A):c.2472C>T (p.Asn824=)
NM_001378615.1(CC2D2A):c.248-25TTTTGT[2]
NM_001378615.1(CC2D2A):c.248-8T>C
NM_001378615.1(CC2D2A):c.2482C>A (p.Arg828=)
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+9T>C rs768382177
NM_001378615.1(CC2D2A):c.2487-4T>G rs900632187
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.2551T>C (p.Leu851=)
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.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+7A>G
NM_001378615.1(CC2D2A):c.2625+9C>G
NM_001378615.1(CC2D2A):c.2625+9C>T
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.2640T>C (p.Gly880=)
NM_001378615.1(CC2D2A):c.2649T>C (p.Tyr883=)
NM_001378615.1(CC2D2A):c.2670G>A (p.Leu890=)
NM_001378615.1(CC2D2A):c.2673G>A (p.Glu891=)
NM_001378615.1(CC2D2A):c.2688G>A (p.Glu896=) rs2109058103
NM_001378615.1(CC2D2A):c.2718T>C (p.Asn906=)
NM_001378615.1(CC2D2A):c.2724C>T (p.Ser908=)
NM_001378615.1(CC2D2A):c.2772C>T (p.Phe924=)
NM_001378615.1(CC2D2A):c.2796C>T (p.Val932=)
NM_001378615.1(CC2D2A):c.279A>T (p.Thr93=)
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.2830-14C>T
NM_001378615.1(CC2D2A):c.2830-16C>A
NM_001378615.1(CC2D2A):c.2830-18G>T
NM_001378615.1(CC2D2A):c.2830-20T>C
NM_001378615.1(CC2D2A):c.2830-8A>T
NM_001378615.1(CC2D2A):c.2835T>C (p.Tyr945=) rs1719439232
NM_001378615.1(CC2D2A):c.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.2877A>G (p.Glu959=)
NM_001378615.1(CC2D2A):c.2886C>T (p.Asp962=) rs2109060199
NM_001378615.1(CC2D2A):c.2892T>C (p.His964=)
NM_001378615.1(CC2D2A):c.2895G>A (p.Arg965=)
NM_001378615.1(CC2D2A):c.2916C>G (p.Leu972=)
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.2923-3del
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.2928A>G (p.Arg976=)
NM_001378615.1(CC2D2A):c.2934A>G (p.Ser978=)
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.2982T>C (p.Asp994=)
NM_001378615.1(CC2D2A):c.2991A>G (p.Val997=) rs2109061736
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.3015-14T>C
NM_001378615.1(CC2D2A):c.3015-19C>G
NM_001378615.1(CC2D2A):c.3015-5A>G
NM_001378615.1(CC2D2A):c.3064C>A (p.Arg1022=)
NM_001378615.1(CC2D2A):c.3066G>A (p.Arg1022=) rs2109065234
NM_001378615.1(CC2D2A):c.3075A>G (p.Arg1025=)
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001378615.1(CC2D2A):c.3147A>G (p.Arg1049=)
NM_001378615.1(CC2D2A):c.315G>A (p.Arg105=)
NM_001378615.1(CC2D2A):c.3177A>G (p.Ala1059=)
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.3183-12T>G
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.322T>C (p.Leu108=)
NM_001378615.1(CC2D2A):c.3267T>C (p.Asn1089=)
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.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+9T>C
NM_001378615.1(CC2D2A):c.3289-15G>C rs2109070538
NM_001378615.1(CC2D2A):c.3303C>G (p.Pro1101=)
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
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.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.337-7T>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.3405T>C (p.Pro1135=)
NM_001378615.1(CC2D2A):c.3426C>T (p.Ala1142=)
NM_001378615.1(CC2D2A):c.3447T>C (p.Asp1149=)
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.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.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.3519A>T (p.Gly1173=) rs2109073915
NM_001378615.1(CC2D2A):c.354A>G (p.Ala118=)
NM_001378615.1(CC2D2A):c.354A>T (p.Ala118=)
NM_001378615.1(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001378615.1(CC2D2A):c.3576A>G (p.Thr1192=) rs953629205
NM_001378615.1(CC2D2A):c.357G>A (p.Leu119=)
NM_001378615.1(CC2D2A):c.3585C>T (p.Phe1195=)
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.3595-4A>T
NM_001378615.1(CC2D2A):c.3595-5C>G
NM_001378615.1(CC2D2A):c.363G>A (p.Gln121=)
NM_001378615.1(CC2D2A):c.3648G>A (p.Lys1216=)
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.369C>A (p.Ile123=)
NM_001378615.1(CC2D2A):c.3711C>T (p.Tyr1237=)
NM_001378615.1(CC2D2A):c.3717C>G (p.Thr1239=)
NM_001378615.1(CC2D2A):c.3732T>C (p.Ile1244=)
NM_001378615.1(CC2D2A):c.3744G>A (p.Leu1248=)
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.3777G>A (p.Glu1259=)
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.3810T>A (p.Thr1270=)
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.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.3882C>T (p.Ser1294=)
NM_001378615.1(CC2D2A):c.3885A>G (p.Gly1295=)
NM_001378615.1(CC2D2A):c.3891T>G (p.Thr1297=)
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.3900C>T (p.Ile1300=) rs2109083429
NM_001378615.1(CC2D2A):c.390C>T (p.Arg130=)
NM_001378615.1(CC2D2A):c.3919T>C (p.Leu1307=)
NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)
NM_001378615.1(CC2D2A):c.3927T>G (p.Pro1309=)
NM_001378615.1(CC2D2A):c.3936G>A (p.Glu1312=)
NM_001378615.1(CC2D2A):c.394C>A (p.Arg132=)
NM_001378615.1(CC2D2A):c.3957T>C (p.Asn1319=) rs2109083467
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+8T>C
NM_001378615.1(CC2D2A):c.3976-14T>C
NM_001378615.1(CC2D2A):c.3976-5T>C
NM_001378615.1(CC2D2A):c.3984G>A (p.Val1328=)
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.4014G>A (p.Leu1338=)
NM_001378615.1(CC2D2A):c.4023T>C (p.Thr1341=)
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+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.4066-16T>G
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.408G>A (p.Lys136=)
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
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.4125C>T (p.Tyr1375=)
NM_001378615.1(CC2D2A):c.4128T>C (p.Phe1376=)
NM_001378615.1(CC2D2A):c.4149C>G (p.Ala1383=)
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+8C>A rs2109090417
NM_001378615.1(CC2D2A):c.4179+8C>T
NM_001378615.1(CC2D2A):c.4180-20T>C
NM_001378615.1(CC2D2A):c.4191C>G (p.Ala1397=)
NM_001378615.1(CC2D2A):c.4203T>G (p.Thr1401=)
NM_001378615.1(CC2D2A):c.4209G>A (p.Glu1403=)
NM_001378615.1(CC2D2A):c.4221T>C (p.Tyr1407=)
NM_001378615.1(CC2D2A):c.4222T>C (p.Leu1408=)
NM_001378615.1(CC2D2A):c.4248T>C (p.His1416=)
NM_001378615.1(CC2D2A):c.4254T>C (p.Tyr1418=)
NM_001378615.1(CC2D2A):c.4287T>C (p.Asn1429=)
NM_001378615.1(CC2D2A):c.4290G>A (p.Val1430=)
NM_001378615.1(CC2D2A):c.429T>C (p.Phe143=)
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.4315-7T>G
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.438+12C>T
NM_001378615.1(CC2D2A):c.438+15_438+18del rs1716044858
NM_001378615.1(CC2D2A):c.438+20C>T
NM_001378615.1(CC2D2A):c.439-13T>C
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.439-6A>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.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+7del
NM_001378615.1(CC2D2A):c.4437+8T>A
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.4464A>T (p.Ser1488=)
NM_001378615.1(CC2D2A):c.4491A>G (p.Gln1497=) rs863225179
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+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.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.4545T>C (p.His1515=)
NM_001378615.1(CC2D2A):c.4554G>C (p.Arg1518=) rs755691801
NM_001378615.1(CC2D2A):c.4569T>C (p.Cys1523=)
NM_001378615.1(CC2D2A):c.4602A>G (p.Leu1534=)
NM_001378615.1(CC2D2A):c.4632T>C (p.Asp1544=)
NM_001378615.1(CC2D2A):c.465A>G (p.Gln155=)
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.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.4704T>C (p.Tyr1568=)
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.4740T>C (p.Ser1580=) rs759221177
NM_001378615.1(CC2D2A):c.4746A>C (p.Gly1582=) rs2148497436
NM_001378615.1(CC2D2A):c.4752T>C (p.His1584=)
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.4811A>G (p.Lys1604Arg)
NM_001378615.1(CC2D2A):c.4819T>C (p.Leu1607=) rs1197953378
NM_001378615.1(CC2D2A):c.4836T>C (p.Tyr1612=)
NM_001378615.1(CC2D2A):c.4848T>C (p.Leu1616=) rs1396115620
NM_001378615.1(CC2D2A):c.4848T>G (p.Leu1616=)
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.495A>G (p.Arg165=)
NM_001378615.1(CC2D2A):c.501G>A (p.Lys167=)
NM_001378615.1(CC2D2A):c.507T>C (p.His169=)
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+20A>G
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.541-5G>T
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.558T>C (p.Pro186=)
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.639A>G (p.Arg213=) rs750290771
NM_001378615.1(CC2D2A):c.63T>C (p.Asp21=) rs1714407530
NM_001378615.1(CC2D2A):c.669G>A (p.Glu223=)
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.693T>G (p.Pro231=)
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.718-12A>G
NM_001378615.1(CC2D2A):c.718-18C>T
NM_001378615.1(CC2D2A):c.718-19A>G
NM_001378615.1(CC2D2A):c.718-20T>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.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.762A>C (p.Leu254=)
NM_001378615.1(CC2D2A):c.765G>A (p.Leu255=)
NM_001378615.1(CC2D2A):c.816T>C (p.Tyr272=) rs2109011659
NM_001378615.1(CC2D2A):c.834G>A (p.Arg278=)
NM_001378615.1(CC2D2A):c.840G>A (p.Gln280=)
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.90C>T (p.Asn30=)
NM_001378615.1(CC2D2A):c.933T>C (p.Asp311=)
NM_001378615.1(CC2D2A):c.948C>A (p.Thr316=) rs201439700
NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=) rs762984980
NM_001378615.1(CC2D2A):c.963G>A (p.Glu321=) rs1207496034
NM_015272.5(RPGRIP1L):c.1005G>A (p.Lys335=)
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+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.1030-20T>C
NM_015272.5(RPGRIP1L):c.1030-7A>G rs2151236913
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.1035G>A (p.Gln345=) rs1437242760
NM_015272.5(RPGRIP1L):c.1047T>C (p.Asn349=) rs2151236754
NM_015272.5(RPGRIP1L):c.1062A>G (p.Glu354=) rs2151236607
NM_015272.5(RPGRIP1L):c.1065G>A (p.Arg355=) rs2151236560
NM_015272.5(RPGRIP1L):c.1071T>G (p.Leu357=)
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.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.1104-4G>C
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.1120C>T (p.His374Tyr) rs200773352
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.1155G>T (p.Leu385=)
NM_015272.5(RPGRIP1L):c.1161G>T (p.Val387=) rs2151198681
NM_015272.5(RPGRIP1L):c.1167T>A (p.Ile389=) rs1271430052
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.120G>A (p.Gln40=) rs1660515981
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.1224C>T (p.Asp408=)
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.1244-9A>G rs2151165404
NM_015272.5(RPGRIP1L):c.1251T>C (p.Asn417=) rs2151165227
NM_015272.5(RPGRIP1L):c.1269G>A (p.Glu423=)
NM_015272.5(RPGRIP1L):c.126G>A (p.Val42=) rs1423077786
NM_015272.5(RPGRIP1L):c.1293T>C (p.Tyr431=) rs2151164876
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.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.1351-4G>A rs1479026011
NM_015272.5(RPGRIP1L):c.1351-9C>T
NM_015272.5(RPGRIP1L):c.1374A>G (p.Glu458=) rs2151162320
NM_015272.5(RPGRIP1L):c.1377G>A (p.Leu459=)
NM_015272.5(RPGRIP1L):c.1386T>C (p.Ala462=)
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.1404T>C (p.Ala468=) rs2151157523
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.1428C>T (p.Asp476=) rs2151157288
NM_015272.5(RPGRIP1L):c.1437T>C (p.Phe479=) rs2151157214
NM_015272.5(RPGRIP1L):c.1455T>C (p.Ser485=)
NM_015272.5(RPGRIP1L):c.1479C>T (p.Arg493=)
NM_015272.5(RPGRIP1L):c.1492C>T (p.Leu498=) rs777340505
NM_015272.5(RPGRIP1L):c.1509A>G (p.Ala503=) rs2151156589
NM_015272.5(RPGRIP1L):c.1515G>A (p.Thr505=) rs1472969606
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.153A>G (p.Glu51=) rs1970746720
NM_015272.5(RPGRIP1L):c.1548A>G (p.Leu516=)
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+20G>A
NM_015272.5(RPGRIP1L):c.1581+20G>C
NM_015272.5(RPGRIP1L):c.1581+9A>G
NM_015272.5(RPGRIP1L):c.1582-20T>G
NM_015272.5(RPGRIP1L):c.1582-4G>A rs1967278713
NM_015272.5(RPGRIP1L):c.1587G>A (p.Glu529=)
NM_015272.5(RPGRIP1L):c.1618T>C (p.Leu540=)
NM_015272.5(RPGRIP1L):c.1623G>A (p.Gln541=) rs1178582517
NM_015272.5(RPGRIP1L):c.1638C>G (p.Leu546=)
NM_015272.5(RPGRIP1L):c.1650G>A (p.Gln550=) rs2151150317
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.1680A>G (p.Ala560=)
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+9T>C
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.1701C>A (p.Ala567=) rs1555604462
NM_015272.5(RPGRIP1L):c.1746A>G (p.Lys582=) rs2151128298
NM_015272.5(RPGRIP1L):c.1773T>C (p.Val591=) rs2151128005
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.1830T>C (p.His610=)
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.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.1884G>A (p.Glu628=) rs2151126933
NM_015272.5(RPGRIP1L):c.1893T>G (p.Thr631=)
NM_015272.5(RPGRIP1L):c.1914T>C (p.Tyr638=)
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.1959C>T (p.Pro653=) rs1213772384
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=) rs138669723
NM_015272.5(RPGRIP1L):c.1974T>C (p.Thr658=)
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.1995T>C (p.Val665=) rs2151125697
NM_015272.5(RPGRIP1L):c.1998T>C (p.Asn666=)
NM_015272.5(RPGRIP1L):c.2008T>C (p.Leu670=)
NM_015272.5(RPGRIP1L):c.2022G>A (p.Gln674=)
NM_015272.5(RPGRIP1L):c.2040T>G (p.Leu680=)
NM_015272.5(RPGRIP1L):c.2064A>G (p.Thr688=)
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.2115A>G (p.Glu705=)
NM_015272.5(RPGRIP1L):c.2145T>C (p.Ser715=)
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+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.2172A>G (p.Pro724=) rs1472949647
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.2214C>G (p.Pro738=)
NM_015272.5(RPGRIP1L):c.2223A>G (p.Gln741=)
NM_015272.5(RPGRIP1L):c.2230C>A (p.Arg744=) rs267604575
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.225T>A (p.Ile75=) rs2151379048
NM_015272.5(RPGRIP1L):c.2262G>T (p.Gly754=) rs775616241
NM_015272.5(RPGRIP1L):c.2271A>G (p.Thr757=) rs2151101735
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.230+10A>G
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+9A>G rs774753693
NM_015272.5(RPGRIP1L):c.2301G>A (p.Gln767=) rs1338012833
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+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.2305-8T>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.231-4C>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.2334A>G (p.Gln778=) rs1435869251
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.2358T>C (p.Asp786=) rs1468139751
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.2391A>G (p.Arg797=)
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.243G>A (p.Lys81=)
NM_015272.5(RPGRIP1L):c.2445T>C (p.Val815=) rs2151083124
NM_015272.5(RPGRIP1L):c.2460T>C (p.Phe820=) rs778075524
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.2496T>C (p.Ser832=) rs2151082740
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.2523T>C (p.His841=) rs1598310040
NM_015272.5(RPGRIP1L):c.2532C>T (p.Phe844=) rs760455293
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2571G>A (p.Lys857=)
NM_015272.5(RPGRIP1L):c.2574A>G (p.Ser858=) rs1966500554
NM_015272.5(RPGRIP1L):c.2577G>A (p.Glu859=) rs2151082234
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.2604T>C (p.Asp868=) rs1567829935
NM_015272.5(RPGRIP1L):c.261T>C (p.Asn87=) rs752587948
NM_015272.5(RPGRIP1L):c.2634A>G (p.Gly878=)
NM_015272.5(RPGRIP1L):c.2658G>T (p.Ser886=)
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.2684-14T>A
NM_015272.5(RPGRIP1L):c.2684-14T>C
NM_015272.5(RPGRIP1L):c.2684-15A>C
NM_015272.5(RPGRIP1L):c.2718T>C (p.Pro906=) rs1038661631
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.2751A>G (p.Lys917=) rs2151059675
NM_015272.5(RPGRIP1L):c.2763T>G (p.Leu921=) rs2151059581
NM_015272.5(RPGRIP1L):c.2766A>G (p.Pro922=) rs1567825162
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.2823A>G (p.Pro941=) rs1966206646
NM_015272.5(RPGRIP1L):c.282G>T (p.Arg94=) rs2151353718
NM_015272.5(RPGRIP1L):c.2853C>T (p.Ser951=) rs2151058811
NM_015272.5(RPGRIP1L):c.2859T>C (p.Val953=)
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=) rs2151058712
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.2875-15G>A
NM_015272.5(RPGRIP1L):c.2875-17T>C
NM_015272.5(RPGRIP1L):c.2875-20C>T
NM_015272.5(RPGRIP1L):c.2875-4T>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.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.2919G>A (p.Lys973=) rs2151056978
NM_015272.5(RPGRIP1L):c.291C>A (p.Gly97=) rs765369037
NM_015272.5(RPGRIP1L):c.2934G>A (p.Val978=)
NM_015272.5(RPGRIP1L):c.294C>T (p.Gly98=)
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+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.2959-8A>G
NM_015272.5(RPGRIP1L):c.2961G>A (p.Glu987=)
NM_015272.5(RPGRIP1L):c.2964T>C (p.Thr988=)
NM_015272.5(RPGRIP1L):c.2964T>G (p.Thr988=) rs2151040746
NM_015272.5(RPGRIP1L):c.2976T>C (p.Pro992=) rs2151040617
NM_015272.5(RPGRIP1L):c.2985G>A (p.Arg995=)
NM_015272.5(RPGRIP1L):c.2988G>A (p.Lys996=)
NM_015272.5(RPGRIP1L):c.3024A>T (p.Ile1008=)
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.3045_3060+12dup
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.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.3138A>G (p.Leu1046=) rs1306386140
NM_015272.5(RPGRIP1L):c.3141A>G (p.Leu1047=)
NM_015272.5(RPGRIP1L):c.3156T>A (p.Leu1052=) rs2151036210
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.3192A>C (p.Thr1064=) rs956639777
NM_015272.5(RPGRIP1L):c.3192A>G (p.Thr1064=) rs956639777
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.3221-7T>C rs1170674790
NM_015272.5(RPGRIP1L):c.3237A>C (p.Ser1079=)
NM_015272.5(RPGRIP1L):c.3246C>T (p.Asp1082=)
NM_015272.5(RPGRIP1L):c.3270T>C (p.Gly1090=)
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+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.3295-4A>G
NM_015272.5(RPGRIP1L):c.3295-6A>G
NM_015272.5(RPGRIP1L):c.3295-7dup
NM_015272.5(RPGRIP1L):c.3295-9T>C
NM_015272.5(RPGRIP1L):c.3295-9_3295-8insG
NM_015272.5(RPGRIP1L):c.330A>G (p.Glu110=) rs1970437460
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=) rs568801926
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.3339A>C (p.Ser1113=)
NM_015272.5(RPGRIP1L):c.3351C>T (p.Asn1117=)
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.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.3423C>T (p.His1141=)
NM_015272.5(RPGRIP1L):c.3426C>T (p.His1142=)
NM_015272.5(RPGRIP1L):c.3432+13A>T
NM_015272.5(RPGRIP1L):c.3432+20G>T
NM_015272.5(RPGRIP1L):c.3433-13G>T
NM_015272.5(RPGRIP1L):c.3433-7T>C
NM_015272.5(RPGRIP1L):c.3435A>G (p.Pro1145=)
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=) rs750930363
NM_015272.5(RPGRIP1L):c.3453T>C (p.Ile1151=)
NM_015272.5(RPGRIP1L):c.3459C>T (p.Ile1153=) rs1964562143
NM_015272.5(RPGRIP1L):c.3465T>A (p.Ala1155=)
NM_015272.5(RPGRIP1L):c.3492C>T (p.Thr1164=) rs2150964666
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.3552A>G (p.Glu1184=)
NM_015272.5(RPGRIP1L):c.3555G>A (p.Glu1185=) rs2150964438
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.3591G>A (p.Gln1197=) rs1598241420
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+9G>C
NM_015272.5(RPGRIP1L):c.3617-12C>A
NM_015272.5(RPGRIP1L):c.3617-13T>C
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.3648A>G (p.Ala1216=) rs2150938382
NM_015272.5(RPGRIP1L):c.3651G>A (p.Lys1217=)
NM_015272.5(RPGRIP1L):c.3657C>T (p.Asp1219=)
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>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.3771G>A (p.Val1257=) rs1963627514
NM_015272.5(RPGRIP1L):c.3780C>A (p.Val1260=)
NM_015272.5(RPGRIP1L):c.3789C>T (p.Ala1263=) rs1963626162
NM_015272.5(RPGRIP1L):c.3801G>A (p.Gln1267=)
NM_015272.5(RPGRIP1L):c.3813C>T (p.Asp1271=)
NM_015272.5(RPGRIP1L):c.3816C>T (p.Leu1272=)
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.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.3847C>A (p.Arg1283=) rs754697392
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.3888C>T (p.Val1296=) rs1963406998
NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=) rs915393428
NM_015272.5(RPGRIP1L):c.3912T>C (p.Ser1304=) rs2150909277
NM_015272.5(RPGRIP1L):c.3939G>A (p.Leu1313=)
NM_015272.5(RPGRIP1L):c.397C>T (p.Leu133=) rs2151352510
NM_015272.5(RPGRIP1L):c.411A>G (p.Lys137=)
NM_015272.5(RPGRIP1L):c.423A>G (p.Gln141=)
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.459A>G (p.Val153=) rs2151351733
NM_015272.5(RPGRIP1L):c.462A>G (p.Gln154=)
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.483T>G (p.Arg161=) rs2151351392
NM_015272.5(RPGRIP1L):c.486A>G (p.Arg162=)
NM_015272.5(RPGRIP1L):c.492A>G (p.Ala164=)
NM_015272.5(RPGRIP1L):c.504T>C (p.Ala168=) rs2151351081
NM_015272.5(RPGRIP1L):c.507T>C (p.Gly169=) rs2151350970
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.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+7C>G rs1970421028
NM_015272.5(RPGRIP1L):c.529+7C>T rs1970421028
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.530-20T>C
NM_015272.5(RPGRIP1L):c.530-8G>C
NM_015272.5(RPGRIP1L):c.530-9T>C
NM_015272.5(RPGRIP1L):c.555A>G (p.Val185=)
NM_015272.5(RPGRIP1L):c.564T>A (p.Thr188=)
NM_015272.5(RPGRIP1L):c.582A>T (p.Thr194=)
NM_015272.5(RPGRIP1L):c.591C>A (p.Gly197=)
NM_015272.5(RPGRIP1L):c.618A>G (p.Gly206=) rs1970130340
NM_015272.5(RPGRIP1L):c.632+16T>C
NM_015272.5(RPGRIP1L):c.632+7G>A rs746526374
NM_015272.5(RPGRIP1L):c.632+9_632+21del rs2151325015
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.651A>C (p.Ser217=)
NM_015272.5(RPGRIP1L):c.669G>A (p.Glu223=)
NM_015272.5(RPGRIP1L):c.66T>C (p.Phe22=) rs760486367
NM_015272.5(RPGRIP1L):c.678G>A (p.Glu226=) rs1970027900
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.714A>G (p.Arg238=) rs2151317940
NM_015272.5(RPGRIP1L):c.726A>G (p.Glu242=) rs2151317865
NM_015272.5(RPGRIP1L):c.735A>G (p.Leu245=) rs2151317799
NM_015272.5(RPGRIP1L):c.744T>G (p.Leu248=)
NM_015272.5(RPGRIP1L):c.759G>A (p.Gln253=)
NM_015272.5(RPGRIP1L):c.776+17A>G
NM_015272.5(RPGRIP1L):c.776+19A>G
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.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.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.85+12T>A
NM_015272.5(RPGRIP1L):c.85+12T>C
NM_015272.5(RPGRIP1L):c.85+17T>C
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.882+10T>C rs1598379616
NM_015272.5(RPGRIP1L):c.882+17T>C
NM_015272.5(RPGRIP1L):c.882+9A>G
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.883-3del
NM_015272.5(RPGRIP1L):c.883-6T>C
NM_015272.5(RPGRIP1L):c.918G>A (p.Leu306=) rs1968869903
NM_015272.5(RPGRIP1L):c.930G>A (p.Gly310=) rs1968868729
NM_015272.5(RPGRIP1L):c.937T>C (p.Leu313=) rs2151245638
NM_015272.5(RPGRIP1L):c.957G>A (p.Glu319=) rs1968866974
NM_015272.5(RPGRIP1L):c.972C>T (p.Cys324=)
NM_015272.5(RPGRIP1L):c.975C>T (p.Cys325=)
NM_015272.5(RPGRIP1L):c.978T>C (p.Ser326=) rs2151245344
NM_015272.5(RPGRIP1L):c.981T>C (p.Leu327=)
NM_015272.5(RPGRIP1L):c.991T>C (p.Leu331=)
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.105G>A (p.Val35=)
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.189A>G (p.Ala63=)
NM_015681.6(B9D1):c.204C>T (p.Phe68=) rs1006221533
NM_015681.6(B9D1):c.216C>G (p.Val72=)
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.276A>C (p.Pro92=)
NM_015681.6(B9D1):c.285C>T (p.Phe95=)
NM_015681.6(B9D1):c.288G>A (p.Gly96=)
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.342-9T>C
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.426C>T (p.Pro142=)
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.480T>G (p.Arg160=)
NM_015681.6(B9D1):c.510C>G (p.Leu170=)
NM_015681.6(B9D1):c.510C>T (p.Leu170=)
NM_015681.6(B9D1):c.579G>C (p.Val193=)
NM_015681.6(B9D1):c.63+11G>A rs2152278747
NM_015681.6(B9D1):c.63+16C>T
NM_015681.6(B9D1):c.63+20G>A rs765907063
NM_015681.6(B9D1):c.63+20_63+43del rs2152278609
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.96C>T (p.Tyr32=) rs2152276201
NM_015681.6(B9D1):c.9C>G (p.Thr3=) rs749611797
NM_017777.4(MKS1):c.1012T>C (p.Leu338=) rs1968819648
NM_017777.4(MKS1):c.1024+16A>T
NM_017777.4(MKS1):c.1024+8A>G
NM_017777.4(MKS1):c.1025-18T>C
NM_017777.4(MKS1):c.1025-20A>G
NM_017777.4(MKS1):c.1026C>T (p.His342=)
NM_017777.4(MKS1):c.1041A>G (p.Ala347=)
NM_017777.4(MKS1):c.1050G>A (p.Gln350=)
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.1077C>T (p.Thr359=) rs1968672310
NM_017777.4(MKS1):c.1092A>C (p.Ala364=) rs1379453194
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.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.1096-7T>C rs2143753917
NM_017777.4(MKS1):c.1096-9T>C rs2143753947
NM_017777.4(MKS1):c.1098C>T (p.Asp366=) rs1374437999
NM_017777.4(MKS1):c.1113C>T (p.Phe371=)
NM_017777.4(MKS1):c.1116C>T (p.Ser372=)
NM_017777.4(MKS1):c.1122A>G (p.Pro374=)
NM_017777.4(MKS1):c.1128G>T (p.Thr376=) rs369141016
NM_017777.4(MKS1):c.1137C>T (p.Ala379=)
NM_017777.4(MKS1):c.1140C>T (p.Phe380=)
NM_017777.4(MKS1):c.1149T>C (p.His383=)
NM_017777.4(MKS1):c.1158A>G (p.Glu386=) rs797045705
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.1166-20G>A
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.1203C>A (p.Val401=)
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.1224G>A (p.Gln408=) rs1216137211
NM_017777.4(MKS1):c.1245T>C (p.Tyr415=) rs1968622013
NM_017777.4(MKS1):c.1254G>A (p.Val418=) rs2143750611
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+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.1274-4G>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.1284C>G (p.Thr428=)
NM_017777.4(MKS1):c.1299G>T (p.Thr433=) rs749503564
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.1353C>A (p.Gly451=) rs764549118
NM_017777.4(MKS1):c.1353C>G (p.Gly451=)
NM_017777.4(MKS1):c.135C>G (p.Ala45=)
NM_017777.4(MKS1):c.135C>T (p.Ala45=)
NM_017777.4(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.4(MKS1):c.1407+10G>A
NM_017777.4(MKS1):c.1407+19G>A
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.1408-18C>A rs2143738791
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.1408-29C>T rs2143738957
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.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.1425C>A (p.Arg475=) rs2143738206
NM_017777.4(MKS1):c.1434C>T (p.Leu478=) rs1463944569
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.1458C>T (p.Val486=)
NM_017777.4(MKS1):c.1470G>A (p.Leu490=) rs1968517645
NM_017777.4(MKS1):c.1476T>C (p.Cys492=)
NM_017777.4(MKS1):c.147G>A (p.Lys49=) rs2143838854
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+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.1515T>A (p.Leu505=)
NM_017777.4(MKS1):c.1528C>A (p.Arg510=)
NM_017777.4(MKS1):c.1530G>A (p.Arg510=)
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.1575T>A (p.Ile525=)
NM_017777.4(MKS1):c.1578C>T (p.His526=)
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+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.1590G>A (p.Glu530=)
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.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.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+20T>C
NM_017777.4(MKS1):c.190+8dup rs766767996
NM_017777.4(MKS1):c.191-10G>T rs756533204
NM_017777.4(MKS1):c.191-17C>T
NM_017777.4(MKS1):c.191-19C>G
NM_017777.4(MKS1):c.191-9T>C rs2143823943
NM_017777.4(MKS1):c.201C>G (p.Arg67=) rs2143823724
NM_017777.4(MKS1):c.204A>G (p.Pro68=)
NM_017777.4(MKS1):c.207G>A (p.Glu69=) rs1969242335
NM_017777.4(MKS1):c.213C>T (p.Asp71=) rs142813109
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.237G>A (p.Gly79=) rs2143823165
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.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.30C>G (p.Thr10=) rs576239597
NM_017777.4(MKS1):c.318G>A (p.Gln106=)
NM_017777.4(MKS1):c.324T>C (p.Arg108=) rs1007384458
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.390C>T (p.Asp130=)
NM_017777.4(MKS1):c.39A>G (p.Ala13=)
NM_017777.4(MKS1):c.405C>A (p.Thr135=)
NM_017777.4(MKS1):c.411G>A (p.Leu137=)
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.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.453G>A (p.Val151=)
NM_017777.4(MKS1):c.45T>C (p.Tyr15=)
NM_017777.4(MKS1):c.468C>G (p.Val156=) rs199684837
NM_017777.4(MKS1):c.483T>C (p.Asn161=) rs1472188901
NM_017777.4(MKS1):c.492T>A (p.Arg164=) rs2143808753
NM_017777.4(MKS1):c.498G>A (p.Arg166=) rs778956664
NM_017777.4(MKS1):c.513G>C (p.Gly171=) rs2143808375
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+9G>C rs752279060
NM_017777.4(MKS1):c.515+9G>T
NM_017777.4(MKS1):c.516-5C>A
NM_017777.4(MKS1):c.516-9G>A rs1969068781
NM_017777.4(MKS1):c.519G>A (p.Glu173=) rs901476301
NM_017777.4(MKS1):c.522C>A (p.Gly174=)
NM_017777.4(MKS1):c.528C>T (p.Ile176=) rs2143805374
NM_017777.4(MKS1):c.52C>A (p.Arg18=) rs557896607
NM_017777.4(MKS1):c.546C>T (p.Val182=) rs1969065058
NM_017777.4(MKS1):c.555G>A (p.Glu185=) rs2143804915
NM_017777.4(MKS1):c.564A>G (p.Glu188=) rs2143804818
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.600T>G (p.Pro200=)
NM_017777.4(MKS1):c.60C>A (p.Pro20=)
NM_017777.4(MKS1):c.618C>A (p.Ile206=)
NM_017777.4(MKS1):c.624A>G (p.Ala208=)
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.645-7T>C
NM_017777.4(MKS1):c.657G>A (p.Lys219=)
NM_017777.4(MKS1):c.663T>C (p.Tyr221=) rs1597993685
NM_017777.4(MKS1):c.675G>A (p.Leu225=) rs1969025949
NM_017777.4(MKS1):c.693T>C (p.Asp231=) rs777474025
NM_017777.4(MKS1):c.69C>T (p.Asn23=)
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.771G>A (p.Lys257=) rs886038632
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.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+7G>T
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.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.81-5G>T rs1969411105
NM_017777.4(MKS1):c.81-9T>C
NM_017777.4(MKS1):c.825G>A (p.Glu275=) rs921504865
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.84C>T (p.Val28=)
NM_017777.4(MKS1):c.858+17T>G
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.859-5C>T
NM_017777.4(MKS1):c.870G>T (p.Arg290=) rs769489826
NM_017777.4(MKS1):c.876G>A (p.Lys292=)
NM_017777.4(MKS1):c.882T>C (p.Tyr294=)
NM_017777.4(MKS1):c.900C>T (p.Gly300=)
NM_017777.4(MKS1):c.915+19T>C
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.918T>A (p.Thr306=)
NM_017777.4(MKS1):c.918T>G (p.Thr306=)
NM_017777.4(MKS1):c.921C>G (p.Val307=)
NM_017777.4(MKS1):c.948T>C (p.Asn316=)
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.959-20C>T
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.981T>C (p.Tyr327=)
NM_024809.5(TCTN2):c.1008G>A (p.Ala336=)
NM_024809.5(TCTN2):c.1033+13T>A rs368148687
NM_024809.5(TCTN2):c.1033+18G>C
NM_024809.5(TCTN2):c.1034-12T>C
NM_024809.5(TCTN2):c.1083A>G (p.Lys361=)
NM_024809.5(TCTN2):c.1099+19T>A
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.1179C>A (p.Thr393=)
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.1293A>G (p.Glu431=)
NM_024809.5(TCTN2):c.1312+14_1312+15del
NM_024809.5(TCTN2):c.1312+17C>T
NM_024809.5(TCTN2):c.1313-14T>C
NM_024809.5(TCTN2):c.1371G>A (p.Thr457=)
NM_024809.5(TCTN2):c.1389A>G (p.Gln463=)
NM_024809.5(TCTN2):c.1393+8G>A
NM_024809.5(TCTN2):c.1394-5T>C
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.1505+13T>C rs2135849825
NM_024809.5(TCTN2):c.1505+15G>A
NM_024809.5(TCTN2):c.1506-20A>C rs1011092991
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.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.1671C>T (p.Cys557=)
NM_024809.5(TCTN2):c.1692G>A (p.Leu564=) rs751298784
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.1728G>A (p.Val576=)
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.1797G>A (p.Gln599=)
NM_024809.5(TCTN2):c.1809C>T (p.Thr603=)
NM_024809.5(TCTN2):c.1815G>A (p.Glu605=)
NM_024809.5(TCTN2):c.1851C>T (p.Val617=) rs1956235464
NM_024809.5(TCTN2):c.1881C>G (p.Pro627=)
NM_024809.5(TCTN2):c.1881C>T (p.Pro627=) rs139902134
NM_024809.5(TCTN2):c.1887C>G (p.Pro629=) rs1276465193
NM_024809.5(TCTN2):c.1896-11A>C rs2135862710
NM_024809.5(TCTN2):c.1896-14A>G
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.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.1926C>T (p.Cys642=)
NM_024809.5(TCTN2):c.192A>C (p.Gly64=)
NM_024809.5(TCTN2):c.1950G>A (p.Pro650=)
NM_024809.5(TCTN2):c.1959A>G (p.Leu653=)
NM_024809.5(TCTN2):c.2020C>T (p.Leu674=)
NM_024809.5(TCTN2):c.2029T>C (p.Leu677=) rs1271806468
NM_024809.5(TCTN2):c.2034C>T (p.Phe678=)
NM_024809.5(TCTN2):c.2085C>G (p.Ala695=) rs950593517
NM_024809.5(TCTN2):c.210G>A (p.Thr70=)
NM_024809.5(TCTN2):c.234G>A (p.Thr78=)
NM_024809.5(TCTN2):c.246C>T (p.Ser82=) rs552719113
NM_024809.5(TCTN2):c.258C>A (p.Ile86=)
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.268-15A>G
NM_024809.5(TCTN2):c.268-15A>T
NM_024809.5(TCTN2):c.273G>T (p.Val91=)
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.333T>C (p.Asp111=) rs534113568
NM_024809.5(TCTN2):c.357C>T (p.Ile119=) rs1335976509
NM_024809.5(TCTN2):c.463+17_463+20del
NM_024809.5(TCTN2):c.464-13G>A
NM_024809.5(TCTN2):c.528A>T (p.Thr176=)
NM_024809.5(TCTN2):c.543T>C (p.Asp181=)
NM_024809.5(TCTN2):c.564+11del rs767884874
NM_024809.5(TCTN2):c.564+13G>A
NM_024809.5(TCTN2):c.565-5T>G
NM_024809.5(TCTN2):c.585A>G (p.Thr195=) rs2135834132
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.660T>C (p.Ser220=) rs2135834313
NM_024809.5(TCTN2):c.672G>A (p.Thr224=)
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.6C>A (p.Gly2=)
NM_024809.5(TCTN2):c.756T>C (p.His252=) rs1593847530
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.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.82+15G>T
NM_024809.5(TCTN2):c.82+17A>C rs2135813322
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.852C>T (p.Pro284=) rs2135836333
NM_024809.5(TCTN2):c.861T>C (p.Thr287=)
NM_024809.5(TCTN2):c.891+12A>G
NM_024809.5(TCTN2):c.891+18A>G
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.921C>T (p.Asn307=)
NM_024809.5(TCTN2):c.993T>C (p.Asp331=) rs2135840040
NM_025114.4(CEP290):c.*19_*22del rs142288119
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.1005G>A (p.Arg335=) rs1043933772
NM_025114.4(CEP290):c.1008G>A (p.Glu336=)
NM_025114.4(CEP290):c.102+17T>C
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.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.1044T>C (p.Ser348=)
NM_025114.4(CEP290):c.1059A>G (p.Leu353=) rs2138021415
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+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.1068T>A (p.Gly356=)
NM_025114.4(CEP290):c.1078C>A (p.Arg360=) rs776645403
NM_025114.4(CEP290):c.1092T>C (p.Ile364=)
NM_025114.4(CEP290):c.1095G>A (p.Lys365=) rs2138002953
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.1158A>G (p.Glu386=)
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+20G>A
NM_025114.4(CEP290):c.1189+20_1189+23del rs1460774098
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.1190-8_1190-7delinsTC rs2137921603
NM_025114.4(CEP290):c.1197A>C (p.Ser399=)
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.1230G>A (p.Gln410=) rs2137920073
NM_025114.4(CEP290):c.1236G>T (p.Thr412=)
NM_025114.4(CEP290):c.1248A>G (p.Leu416=)
NM_025114.4(CEP290):c.1263A>G (p.Lys421=)
NM_025114.4(CEP290):c.1266G>A (p.Glu422=)
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.12T>C (p.Asn4=)
NM_025114.4(CEP290):c.1305G>A (p.Arg435=)
NM_025114.4(CEP290):c.1320A>G (p.Glu440=)
NM_025114.4(CEP290):c.1350T>C (p.Asp450=)
NM_025114.4(CEP290):c.1353T>C (p.Tyr451=) rs2137916151
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+20C>A
NM_025114.4(CEP290):c.1359+20C>T
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.1360-4T>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.1392A>G (p.Glu464=)
NM_025114.4(CEP290):c.1419A>G (p.Lys473=) rs2137903473
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.1482T>C (p.Ser494=) rs1295495930
NM_025114.4(CEP290):c.1515G>A (p.Glu505=)
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.1524C>T (p.Gly508=)
NM_025114.4(CEP290):c.1527T>G (p.Leu509=)
NM_025114.4(CEP290):c.1584G>A (p.Gln528=)
NM_025114.4(CEP290):c.1593C>T (p.Tyr531=) rs763559949
NM_025114.4(CEP290):c.1599T>G (p.Ala533=) rs2137874116
NM_025114.4(CEP290):c.1602A>G (p.Glu534=)
NM_025114.4(CEP290):c.1605C>T (p.Asn535=)
NM_025114.4(CEP290):c.1611T>A (p.Ile537=)
NM_025114.4(CEP290):c.1611T>C (p.Ile537=)
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+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.1626T>A (p.Ile542=) rs762272190
NM_025114.4(CEP290):c.1635A>G (p.Leu545=)
NM_025114.4(CEP290):c.1638G>A (p.Glu546=)
NM_025114.4(CEP290):c.1644A>G (p.Glu548=)
NM_025114.4(CEP290):c.1650T>A (p.Leu550=)
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.1668T>A (p.Ile556=) rs1458242843
NM_025114.4(CEP290):c.1683A>G (p.Gln561=)
NM_025114.4(CEP290):c.1711+13A>T
NM_025114.4(CEP290):c.1711+18A>G rs2137866354
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.1737A>T (p.Leu579=) rs1173906301
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.1758A>G (p.Gly586=)
NM_025114.4(CEP290):c.1761T>C (p.Asp587=)
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.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.180+10_180+11dup
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+8T>C rs750648438
NM_025114.4(CEP290):c.181-10T>A
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.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.1825-19T>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.1839A>T (p.Ser613=)
NM_025114.4(CEP290):c.1851T>C (p.Ile617=)
NM_025114.4(CEP290):c.1854A>G (p.Glu618=) rs1457478471
NM_025114.4(CEP290):c.1863A>G (p.Arg621=)
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.1899T>C (p.Phe633=)
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.1910-10_1910-9del rs773520477
NM_025114.4(CEP290):c.1910-27_1910-19del
NM_025114.4(CEP290):c.1910-4A>G
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.1986G>A (p.Gln662=)
NM_025114.4(CEP290):c.1998T>C (p.Asp666=)
NM_025114.4(CEP290):c.201G>A (p.Glu67=)
NM_025114.4(CEP290):c.2043A>G (p.Arg681=)
NM_025114.4(CEP290):c.2052+14T>C rs2137779486
NM_025114.4(CEP290):c.2052+15T>C
NM_025114.4(CEP290):c.2052+18T>A
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.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.2095C>T (p.Leu699=) rs748627817
NM_025114.4(CEP290):c.2097G>T (p.Leu699=)
NM_025114.4(CEP290):c.2127C>G (p.Thr709=)
NM_025114.4(CEP290):c.2163A>G (p.Glu721=) rs2137722314
NM_025114.4(CEP290):c.2197T>C (p.Leu733=)
NM_025114.4(CEP290):c.2199G>A (p.Leu733=) rs2137721385
NM_025114.4(CEP290):c.2202A>G (p.Ala734=) rs2137721256
NM_025114.4(CEP290):c.2217+17A>G rs2137720557
NM_025114.4(CEP290):c.2217+19A>G
NM_025114.4(CEP290):c.2217+7A>G
NM_025114.4(CEP290):c.2218-13T>A rs780987235
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.2218-6T>C
NM_025114.4(CEP290):c.2235A>G (p.Lys745=)
NM_025114.4(CEP290):c.2247T>C (p.Leu749=) rs762072403
NM_025114.4(CEP290):c.2250A>G (p.Leu750=)
NM_025114.4(CEP290):c.2259A>G (p.Ser753=)
NM_025114.4(CEP290):c.225A>G (p.Lys75=) rs2040521242
NM_025114.4(CEP290):c.2268A>T (p.Ser756=) rs2468255
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.2301T>C (p.Asp767=)
NM_025114.4(CEP290):c.2304G>C (p.Gly768=)
NM_025114.4(CEP290):c.231A>G (p.Gly77=) rs753852812
NM_025114.4(CEP290):c.2322C>T (p.Ala774=)
NM_025114.4(CEP290):c.2328C>T (p.Ile776=) rs2137708829
NM_025114.4(CEP290):c.2337T>G (p.Ser779=)
NM_025114.4(CEP290):c.2361G>A (p.Leu787=) rs1337194775
NM_025114.4(CEP290):c.2367+10A>G
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.2368-4T>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.2400T>C (p.Asn800=) rs2038497441
NM_025114.4(CEP290):c.2418A>G (p.Glu806=) rs2137663910
NM_025114.4(CEP290):c.2428A>C (p.Arg810=) rs2137663513
NM_025114.4(CEP290):c.243A>T (p.Ala81=)
NM_025114.4(CEP290):c.2466G>A (p.Leu822=) rs2137662331
NM_025114.4(CEP290):c.246A>G (p.Lys82=) rs761233532
NM_025114.4(CEP290):c.2478C>T (p.Tyr826=)
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+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[5] rs745522483
NM_025114.4(CEP290):c.2484-8G>A rs1436691712
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+9C>G rs2040519029
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.251-20del rs879405859
NM_025114.4(CEP290):c.251-4del rs759170743
NM_025114.4(CEP290):c.251-4dup
NM_025114.4(CEP290):c.2533A>C (p.Arg845=) rs371475408
NM_025114.4(CEP290):c.2538A>G (p.Lys846=)
NM_025114.4(CEP290):c.2544G>A (p.Glu848=) rs1201358340
NM_025114.4(CEP290):c.2547T>C (p.Asp849=) rs1417219342
NM_025114.4(CEP290):c.2550A>G (p.Gln850=)
NM_025114.4(CEP290):c.2559A>G (p.Gln853=)
NM_025114.4(CEP290):c.2565T>C (p.Ala855=)
NM_025114.4(CEP290):c.2568A>C (p.Ile856=)
NM_025114.4(CEP290):c.2574A>G (p.Val858=) rs768235992
NM_025114.4(CEP290):c.2583T>C (p.Tyr861=)
NM_025114.4(CEP290):c.2586+20C>A
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.2587-20A>G
NM_025114.4(CEP290):c.258A>G (p.Gln86=)
NM_025114.4(CEP290):c.259T>C (p.Leu87=)
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.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.2673G>A (p.Val891=)
NM_025114.4(CEP290):c.267T>G (p.Thr89=)
NM_025114.4(CEP290):c.2694G>A (p.Arg898=) rs2038314186
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2706C>G (p.Thr902=)
NM_025114.4(CEP290):c.2730T>C (p.Leu910=)
NM_025114.4(CEP290):c.273A>G (p.Val91=) rs768434171
NM_025114.4(CEP290):c.2757T>C (p.Asn919=)
NM_025114.4(CEP290):c.2763G>A (p.Leu921=) rs760283430
NM_025114.4(CEP290):c.2784T>G (p.Val928=)
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.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.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.2874T>G (p.Ser958=)
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.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.2931G>A (p.Arg977=)
NM_025114.4(CEP290):c.2934C>T (p.Asp978=) rs2038000673
NM_025114.4(CEP290):c.2952T>C (p.Asn984=) rs1007548055
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+8T>A rs2138257277
NM_025114.4(CEP290):c.297+9T>C rs2138257225
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.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.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.2992-6dup rs2137426720
NM_025114.4(CEP290):c.2992-7T>C
NM_025114.4(CEP290):c.2997A>G (p.Glu999=) rs2137426535
NM_025114.4(CEP290):c.3000C>T (p.Asn1000=)
NM_025114.4(CEP290):c.3018A>G (p.Gln1006=)
NM_025114.4(CEP290):c.3036A>G (p.Lys1012=) rs2137424983
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.3066C>T (p.His1022=)
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=) rs779561006
NM_025114.4(CEP290):c.3081C>T (p.Ala1027=)
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.3104-11A>T
NM_025114.4(CEP290):c.3104-14A>G
NM_025114.4(CEP290):c.3104-16A>G
NM_025114.4(CEP290):c.3104-8G>A
NM_025114.4(CEP290):c.3104-8G>T
NM_025114.4(CEP290):c.3104-9T>C
NM_025114.4(CEP290):c.312T>G (p.Ser104=) rs2138217275
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.3184C>T (p.Leu1062=) rs2137366862
NM_025114.4(CEP290):c.318T>G (p.Gly106=) rs2138217159
NM_025114.4(CEP290):c.3204T>C (p.Asn1068=)
NM_025114.4(CEP290):c.3210G>A (p.Arg1070=) rs1592539040
NM_025114.4(CEP290):c.3214C>A (p.Arg1072=) rs780870106
NM_025114.4(CEP290):c.321A>T (p.Gly107=)
NM_025114.4(CEP290):c.3249A>G (p.Leu1083=)
NM_025114.4(CEP290):c.3250C>A (p.Arg1084=) rs372918770
NM_025114.4(CEP290):c.3252G>A (p.Arg1084=) rs2137363882
NM_025114.4(CEP290):c.3267A>G (p.Gln1089=)
NM_025114.4(CEP290):c.3288A>G (p.Glu1096=)
NM_025114.4(CEP290):c.3297C>G (p.Thr1099=) rs1277434581
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.3310-13T>A
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.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.333G>T (p.Arg111=) rs2138216422
NM_025114.4(CEP290):c.3363A>G (p.Glu1121=)
NM_025114.4(CEP290):c.3378G>A (p.Val1126=) rs546939043
NM_025114.4(CEP290):c.3396T>C (p.Asp1132=) rs1291200387
NM_025114.4(CEP290):c.3399T>C (p.Ala1133=)
NM_025114.4(CEP290):c.3405G>A (p.Arg1135=)
NM_025114.4(CEP290):c.3426G>A (p.Glu1142=) rs2137341818
NM_025114.4(CEP290):c.3441A>G (p.Glu1147=) rs2137341183
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+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.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.3486C>G (p.Ala1162=) rs376583223
NM_025114.4(CEP290):c.348A>G (p.Glu116=)
NM_025114.4(CEP290):c.3495A>G (p.Gln1165=)
NM_025114.4(CEP290):c.3513A>G (p.Ala1171=)
NM_025114.4(CEP290):c.351T>C (p.Ile117=)
NM_025114.4(CEP290):c.3528G>A (p.Arg1176=)
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=) rs756488924
NM_025114.4(CEP290):c.3537A>G (p.Glu1179=)
NM_025114.4(CEP290):c.3540A>G (p.Val1180=)
NM_025114.4(CEP290):c.3543G>A (p.Glu1181=) rs2137302632
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.3558A>G (p.Gln1186=) rs1189042096
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+7G>T rs2137301511
NM_025114.4(CEP290):c.3574-15T>G rs565414938
NM_025114.4(CEP290):c.3574-16_3574-15insA
NM_025114.4(CEP290):c.3574-17A>G
NM_025114.4(CEP290):c.3574-19A>G rs2137281532
NM_025114.4(CEP290):c.3574-20T>A
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.3591G>A (p.Lys1197=)
NM_025114.4(CEP290):c.3603C>T (p.Ala1201=)
NM_025114.4(CEP290):c.3609G>A (p.Leu1203=)
NM_025114.4(CEP290):c.3624C>T (p.Val1208=) rs1331516324
NM_025114.4(CEP290):c.3630T>G (p.Leu1210=)
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=)
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.3708G>A (p.Leu1236=)
NM_025114.4(CEP290):c.3714A>G (p.Leu1238=)
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.3732A>G (p.Glu1244=) rs2137277122
NM_025114.4(CEP290):c.3744T>C (p.Ala1248=) rs2137276523
NM_025114.4(CEP290):c.3756T>C (p.Ala1252=)
NM_025114.4(CEP290):c.3780A>G (p.Ala1260=)
NM_025114.4(CEP290):c.3787C>T (p.Leu1263=) rs370395204
NM_025114.4(CEP290):c.3807T>C (p.Ser1269=) rs1405878362
NM_025114.4(CEP290):c.3810A>C (p.Leu1270=)
NM_025114.4(CEP290):c.3810A>T (p.Leu1270=)
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.3855G>A (p.Lys1285=) rs766410040
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.3885T>C (p.Asn1295=)
NM_025114.4(CEP290):c.3888C>T (p.Asp1296=) rs2137271829
NM_025114.4(CEP290):c.3909A>G (p.Glu1303=) rs2137271264
NM_025114.4(CEP290):c.3915A>G (p.Lys1305=)
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.3930A>G (p.Glu1310=) rs775663498
NM_025114.4(CEP290):c.3945G>A (p.Glu1315=) rs1367935035
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=) rs1361449401
NM_025114.4(CEP290):c.3954A>G (p.Thr1318=)
NM_025114.4(CEP290):c.3967T>C (p.Leu1323=)
NM_025114.4(CEP290):c.3972A>G (p.Lys1324=) rs2137269381
NM_025114.4(CEP290):c.3981C>G (p.Gly1327=)
NM_025114.4(CEP290):c.3987A>G (p.Glu1329=) rs1224624148
NM_025114.4(CEP290):c.4008G>A (p.Lys1336=)
NM_025114.4(CEP290):c.4020A>C (p.Gly1340=)
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.4030-5del rs2137252186
NM_025114.4(CEP290):c.4035C>A (p.Ile1345=)
NM_025114.4(CEP290):c.4038C>T (p.Asn1346=) rs2137251909
NM_025114.4(CEP290):c.4044T>C (p.His1348=) rs771298371
NM_025114.4(CEP290):c.4050A>G (p.Lys1350=)
NM_025114.4(CEP290):c.405A>G (p.Glu135=)
NM_025114.4(CEP290):c.4071A>G (p.Gln1357=)
NM_025114.4(CEP290):c.4074A>G (p.Glu1358=) rs1031453040
NM_025114.4(CEP290):c.4077T>C (p.Leu1359=) rs2137250800
NM_025114.4(CEP290):c.4087C>A (p.Arg1363=) rs181121175
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.4098C>A (p.Val1366=)
NM_025114.4(CEP290):c.4098C>T (p.Val1366=)
NM_025114.4(CEP290):c.4101G>A (p.Lys1367=)
NM_025114.4(CEP290):c.4110A>G (p.Glu1370=) rs1190210677
NM_025114.4(CEP290):c.4116A>C (p.Ile1372=) rs2137249532
NM_025114.4(CEP290):c.412T>C (p.Leu138=)
NM_025114.4(CEP290):c.4137T>C (p.Ile1379=)
NM_025114.4(CEP290):c.4152T>A (p.Arg1384=) rs2137248717
NM_025114.4(CEP290):c.4167T>G (p.Leu1389=) rs2137248362
NM_025114.4(CEP290):c.4176A>G (p.Glu1392=) rs2137248119
NM_025114.4(CEP290):c.4179T>C (p.Ile1393=)
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+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.4195-5T>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.4224T>C (p.Asp1408=) rs2137220817
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.4285C>T (p.Leu1429=) rs2137218765
NM_025114.4(CEP290):c.4296A>C (p.Ala1432=)
NM_025114.4(CEP290):c.4296A>G (p.Ala1432=) rs2137218338
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.4326C>T (p.Ile1442=)
NM_025114.4(CEP290):c.4338T>C (p.Ser1446=)
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)
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.4371A>G (p.Leu1457=) rs2137212322
NM_025114.4(CEP290):c.4380T>A (p.Ile1460=) rs1014763442
NM_025114.4(CEP290):c.4380T>C (p.Ile1460=)
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.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.442-20T>A
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.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.4506C>T (p.Ile1502=) rs1592837830
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.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.4548A>G (p.Glu1516=) rs2137186609
NM_025114.4(CEP290):c.4551G>A (p.Lys1517=)
NM_025114.4(CEP290):c.4566A>C (p.Leu1522=) rs763991371
NM_025114.4(CEP290):c.4569C>T (p.Gly1523=)
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
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.4603T>C (p.Leu1535=)
NM_025114.4(CEP290):c.4614T>G (p.Ala1538=)
NM_025114.4(CEP290):c.4629A>C (p.Ala1543=) rs2137183853
NM_025114.4(CEP290):c.462G>A (p.Glu154=)
NM_025114.4(CEP290):c.4638A>G (p.Gln1546=)
NM_025114.4(CEP290):c.4644G>A (p.Arg1548=) rs2137183393
NM_025114.4(CEP290):c.4650T>C (p.Asn1550=) rs2137183194
NM_025114.4(CEP290):c.4653A>G (p.Gln1551=) rs2137183063
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=) rs2137182509
NM_025114.4(CEP290):c.4680A>G (p.Gln1560=)
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.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+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.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.471T>C (p.Asn157=)
NM_025114.4(CEP290):c.4737A>G (p.Glu1579=) rs2137169332
NM_025114.4(CEP290):c.4758C>T (p.His1586=) rs896218309
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.4794A>G (p.Lys1598=) rs760100036
NM_025114.4(CEP290):c.4806G>C (p.Thr1602=)
NM_025114.4(CEP290):c.4806G>T (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.4812+15A>T rs1011820485
NM_025114.4(CEP290):c.4812+18_4812+19del rs1362916745
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.4833C>T (p.Pro1611=) rs763271689
NM_025114.4(CEP290):c.4848C>A (p.Thr1616=)
NM_025114.4(CEP290):c.4857T>C (p.His1619=)
NM_025114.4(CEP290):c.4867C>T (p.Leu1623=)
NM_025114.4(CEP290):c.4887A>G (p.Thr1629=) rs1179886652
NM_025114.4(CEP290):c.4899A>G (p.Gln1633=)
NM_025114.4(CEP290):c.4908T>G (p.Ser1636=)
NM_025114.4(CEP290):c.4914C>T (p.Ser1638=) rs2137153390
NM_025114.4(CEP290):c.4926C>A (p.Val1642=)
NM_025114.4(CEP290):c.4926C>G (p.Val1642=)
NM_025114.4(CEP290):c.4944A>G (p.Ser1648=)
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+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.496-12C>T rs2138102416
NM_025114.4(CEP290):c.4977A>G (p.Glu1659=)
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+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.5013-20C>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.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.5067T>C (p.Asp1689=) rs2137105805
NM_025114.4(CEP290):c.507A>G (p.Leu169=) rs2138101663
NM_025114.4(CEP290):c.5091A>G (p.Ser1697=)
NM_025114.4(CEP290):c.5097G>A (p.Lys1699=)
NM_025114.4(CEP290):c.5100G>A (p.Glu1700=) rs2137104806
NM_025114.4(CEP290):c.5103A>G (p.Ser1701=) rs2137104709
NM_025114.4(CEP290):c.5109T>C (p.Cys1703=)
NM_025114.4(CEP290):c.5121A>G (p.Glu1707=) rs2137104323
NM_025114.4(CEP290):c.5130T>C (p.Ala1710=)
NM_025114.4(CEP290):c.5157A>G (p.Pro1719=) rs1215659876
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+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.519T>C (p.Asn173=)
NM_025114.4(CEP290):c.51C>T (p.Asp17=) rs2138305629
NM_025114.4(CEP290):c.5205C>T (p.Ala1735=)
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+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.5227-15T>G
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5227-4T>G rs2137083466
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.5259A>G (p.Ala1753=)
NM_025114.4(CEP290):c.525A>G (p.Gln175=) rs2039993836
NM_025114.4(CEP290):c.5268A>G (p.Thr1756=)
NM_025114.4(CEP290):c.5277T>C (p.Ala1759=)
NM_025114.4(CEP290):c.5298A>C (p.Ala1766=) rs2137081487
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.5313G>A (p.Glu1771=) rs2137081165
NM_025114.4(CEP290):c.5319T>C (p.His1773=)
NM_025114.4(CEP290):c.5340T>C (p.Val1780=) rs2137080571
NM_025114.4(CEP290):c.5346A>G (p.Arg1782=)
NM_025114.4(CEP290):c.534G>A (p.Gln178=)
NM_025114.4(CEP290):c.5364+14C>A
NM_025114.4(CEP290):c.5364+15G>A
NM_025114.4(CEP290):c.5364+17G>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.5367A>T (p.Thr1789=)
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.5409A>G (p.Glu1803=)
NM_025114.4(CEP290):c.5421A>C (p.Thr1807=)
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.5455T>C (p.Leu1819=)
NM_025114.4(CEP290):c.5460T>C (p.Asn1820=)
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.5508A>T (p.Ile1836=)
NM_025114.4(CEP290):c.5517G>A (p.Glu1839=)
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.5559A>G (p.Gln1853=) rs2035884341
NM_025114.4(CEP290):c.555A>G (p.Lys185=) rs2138097181
NM_025114.4(CEP290):c.5574C>G (p.Thr1858=)
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=) rs775652694
NM_025114.4(CEP290):c.5581T>C (p.Leu1861=)
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.5587-10T>A rs1592805772
NM_025114.4(CEP290):c.5587-12T>G
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.5607T>C (p.Asn1869=) rs777353443
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.5634A>G (p.Gln1878=)
NM_025114.4(CEP290):c.5649A>G (p.Lys1883=) rs2137050153
NM_025114.4(CEP290):c.5658C>T (p.Asn1886=)
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.5689C>T (p.Leu1897=) rs2137049271
NM_025114.4(CEP290):c.5691A>G (p.Leu1897=)
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+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.5715T>C (p.Ala1905=)
NM_025114.4(CEP290):c.5739A>G (p.Glu1913=)
NM_025114.4(CEP290):c.5745T>C (p.Gly1915=) rs2035404611
NM_025114.4(CEP290):c.5757A>G (p.Gln1919=)
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=) rs1027531979
NM_025114.4(CEP290):c.5775T>C (p.Ile1925=)
NM_025114.4(CEP290):c.5784G>A (p.Lys1928=) rs2136964688
NM_025114.4(CEP290):c.5796A>G (p.Lys1932=)
NM_025114.4(CEP290):c.5799G>A (p.Glu1933=) rs2136964287
NM_025114.4(CEP290):c.57C>G (p.Pro19=)
NM_025114.4(CEP290):c.57C>T (p.Pro19=)
NM_025114.4(CEP290):c.5802G>A (p.Gly1934=)
NM_025114.4(CEP290):c.5805A>G (p.Glu1935=) rs2136964084
NM_025114.4(CEP290):c.5811T>C (p.Phe1937=)
NM_025114.4(CEP290):c.5823G>A (p.Lys1941=)
NM_025114.4(CEP290):c.5829G>A (p.Leu1943=) rs1195022621
NM_025114.4(CEP290):c.5838G>A (p.Leu1946=)
NM_025114.4(CEP290):c.5841G>A (p.Lys1947=) rs2136963237
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.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.585A>G (p.Leu195=) rs2138096227
NM_025114.4(CEP290):c.5868G>A (p.Glu1956=)
NM_025114.4(CEP290):c.5889A>G (p.Lys1963=)
NM_025114.4(CEP290):c.5892A>G (p.Leu1964=) rs2136957684
NM_025114.4(CEP290):c.5901T>C (p.Thr1967=)
NM_025114.4(CEP290):c.5910T>C (p.Thr1970=) rs2136957326
NM_025114.4(CEP290):c.5925G>A (p.Leu1975=)
NM_025114.4(CEP290):c.5943G>A (p.Glu1981=)
NM_025114.4(CEP290):c.594A>G (p.Arg198=)
NM_025114.4(CEP290):c.5956T>C (p.Leu1986=)
NM_025114.4(CEP290):c.5970A>G (p.Lys1990=)
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=)
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+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.6030T>A (p.Pro2010=)
NM_025114.4(CEP290):c.603C>T (p.Asp201=)
NM_025114.4(CEP290):c.6042T>C (p.Val2014=) rs2035125225
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.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.6084A>G (p.Lys2028=) rs2136911467
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.6105G>A (p.Gln2035=) rs754426182
NM_025114.4(CEP290):c.6120A>T (p.Thr2040=) rs766265410
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.6136-13C>A
NM_025114.4(CEP290):c.6136-6C>G
NM_025114.4(CEP290):c.6136-8C>T
NM_025114.4(CEP290):c.6138T>A (p.Ile2046=)
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=) rs779553989
NM_025114.4(CEP290):c.615A>T (p.Arg205=)
NM_025114.4(CEP290):c.6162T>C (p.His2054=) rs867670449
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=) rs2034700190
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.6204G>A (p.Leu2068=)
NM_025114.4(CEP290):c.6207A>T (p.Ser2069=) rs1327169453
NM_025114.4(CEP290):c.6216T>C (p.Asn2072=)
NM_025114.4(CEP290):c.621G>A (p.Gln207=)
NM_025114.4(CEP290):c.6225G>C (p.Leu2075=)
NM_025114.4(CEP290):c.6234G>A (p.Gln2078=)
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.6270+12G>A
NM_025114.4(CEP290):c.6270+17T>G rs1473886719
NM_025114.4(CEP290):c.6270+19del
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.6271-9A>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.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.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.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+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.6358-18_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.6363T>C (p.Gly2121=) rs2136752914
NM_025114.4(CEP290):c.6369T>C (p.Ser2123=) rs750473077
NM_025114.4(CEP290):c.6372A>G (p.Gly2124=)
NM_025114.4(CEP290):c.6384A>G (p.Pro2128=)
NM_025114.4(CEP290):c.6387A>G (p.Glu2129=)
NM_025114.4(CEP290):c.6388C>T (p.Leu2130=)
NM_025114.4(CEP290):c.6420A>G (p.Val2140=) rs2034432859
NM_025114.4(CEP290):c.642G>A (p.Glu214=) rs2138094419
NM_025114.4(CEP290):c.6432C>A (p.Val2144=)
NM_025114.4(CEP290):c.6438A>G (p.Arg2146=)
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.648C>A (p.Ile216=) rs748527265
NM_025114.4(CEP290):c.6517T>C (p.Leu2173=)
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+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.6523-13G>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.6523-8T>C
NM_025114.4(CEP290):c.6523-9T>G
NM_025114.4(CEP290):c.6561G>A (p.Gln2187=) rs2136727209
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.6600A>G (p.Glu2200=) rs2136725980
NM_025114.4(CEP290):c.6606T>A (p.Ile2202=)
NM_025114.4(CEP290):c.6606T>C (p.Ile2202=)
NM_025114.4(CEP290):c.6624G>A (p.Arg2208=)
NM_025114.4(CEP290):c.6645+7C>T rs762527255
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.6672G>A (p.Arg2224=)
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+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.670-7T>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.6742T>C (p.Leu2248=)
NM_025114.4(CEP290):c.6744G>A (p.Leu2248=) rs2136705270
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.6774T>G (p.Leu2258=) rs2034234195
NM_025114.4(CEP290):c.6777A>G (p.Glu2259=)
NM_025114.4(CEP290):c.6804C>G (p.Ser2268=) rs775553764
NM_025114.4(CEP290):c.6818+10G>C
NM_025114.4(CEP290):c.6818+20C>T
NM_025114.4(CEP290):c.6819-10A>C rs150241790
NM_025114.4(CEP290):c.6819-11T>C rs2136657156
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.6831C>A (p.Thr2277=)
NM_025114.4(CEP290):c.6831C>T (p.Thr2277=)
NM_025114.4(CEP290):c.6837A>G (p.Leu2279=) rs2136656585
NM_025114.4(CEP290):c.6846G>A (p.Leu2282=)
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.6924A>G (p.Gln2308=) rs2033935023
NM_025114.4(CEP290):c.6942T>C (p.Asn2314=) rs2136654318
NM_025114.4(CEP290):c.6951T>A (p.Leu2317=)
NM_025114.4(CEP290):c.6954A>G (p.Glu2318=) rs2136653946
NM_025114.4(CEP290):c.6960+14T>G
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.6961-5dup 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.6972T>C (p.Leu2324=)
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.6993T>A (p.Ala2331=) rs2136636592
NM_025114.4(CEP290):c.6999A>C (p.Thr2333=)
NM_025114.4(CEP290):c.6A>C (p.Pro2=)
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=) rs1592722143
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.7077C>A (p.Ile2359=)
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.7129+10T>C rs2136623387
NM_025114.4(CEP290):c.7129+13A>T
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.7130-18G>A
NM_025114.4(CEP290):c.7130-18G>C rs1258894576
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.7143A>G (p.Leu2381=)
NM_025114.4(CEP290):c.7161T>C (p.Asp2387=) rs1419407850
NM_025114.4(CEP290):c.7162C>T (p.Leu2388=)
NM_025114.4(CEP290):c.7173G>A (p.Gln2391=)
NM_025114.4(CEP290):c.7176C>A (p.Leu2392=)
NM_025114.4(CEP290):c.7179A>G (p.Lys2393=) rs2136564522
NM_025114.4(CEP290):c.7188T>C (p.Asp2396=) rs1373327829
NM_025114.4(CEP290):c.7191A>C (p.Leu2397=)
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+7T>C rs745813087
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7209+7_7209+10del
NM_025114.4(CEP290):c.7209+9_7209+13del
NM_025114.4(CEP290):c.7210-14_7210-12dup
NM_025114.4(CEP290):c.7210-18_7210-13del rs753383814
NM_025114.4(CEP290):c.7212G>A (p.Glu2404=) rs1592705118
NM_025114.4(CEP290):c.7233A>G (p.Lys2411=)
NM_025114.4(CEP290):c.7239G>C (p.Leu2413=) rs2136547545
NM_025114.4(CEP290):c.7251T>C (p.Asp2417=) rs2136547270
NM_025114.4(CEP290):c.7257A>C (p.Ser2419=)
NM_025114.4(CEP290):c.7275A>G (p.Glu2425=) rs2136546932
NM_025114.4(CEP290):c.7284G>A (p.Lys2428=)
NM_025114.4(CEP290):c.729A>G (p.Leu243=) rs1349591192
NM_025114.4(CEP290):c.7305G>C (p.Val2435=)
NM_025114.4(CEP290):c.7308G>A (p.Lys2436=) rs2136545903
NM_025114.4(CEP290):c.7317T>A (p.Ile2439=)
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.7335A>C (p.Val2445=)
NM_025114.4(CEP290):c.7347A>G (p.Ser2449=)
NM_025114.4(CEP290):c.7354T>C (p.Leu2452=) rs2136544711
NM_025114.4(CEP290):c.7366T>C (p.Leu2456=)
NM_025114.4(CEP290):c.7374C>T (p.Ser2458=)
NM_025114.4(CEP290):c.7380T>A (p.Val2460=)
NM_025114.4(CEP290):c.7386T>G (p.Ala2462=)
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.7437C>T (p.Tyr2479=) rs2136542833
NM_025114.4(CEP290):c.75A>G (p.Ala25=) rs2138304637
NM_025114.4(CEP290):c.768A>G (p.Glu256=)
NM_025114.4(CEP290):c.792G>A (p.Val264=)
NM_025114.4(CEP290):c.810A>G (p.Val270=)
NM_025114.4(CEP290):c.816T>C (p.Asp272=)
NM_025114.4(CEP290):c.836A>T (p.Asp279Val)
NM_025114.4(CEP290):c.837T>C (p.Asp279=)
NM_025114.4(CEP290):c.846A>G (p.Gln282=)
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.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.853-7C>A rs2138071676
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.888T>C (p.Asn296=)
NM_025114.4(CEP290):c.897T>C (p.Asp299=)
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+13A>G
NM_025114.4(CEP290):c.942+14A>G
NM_025114.4(CEP290):c.943-14G>T
NM_025114.4(CEP290):c.943-16T>C
NM_025114.4(CEP290):c.943-4C>G
NM_025114.4(CEP290):c.948T>C (p.Ile316=) rs767967987
NM_025114.4(CEP290):c.966T>C (p.Asp322=) rs762450740
NM_025114.4(CEP290):c.993A>G (p.Leu331=)
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306
NM_030578.4(B9D2):c.132G>A (p.Thr44=)
NM_030578.4(B9D2):c.186C>T (p.Asp62=)
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.432C>T (p.Ala144=)
NM_030578.4(B9D2):c.516C>T (p.Gly172=)
NM_030578.4(B9D2):c.88+17G>C
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=) rs1215885580
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2884-4C>A rs185913426
NM_153240.5(NPHP3):c.3126-17T>G rs186041429
NM_153240.5(NPHP3):c.3201+11A>G rs1423098134
NM_153704.6(TMEM67):c.1002T>A (p.Ala334=)
NM_153704.6(TMEM67):c.1026T>C (p.Asn342=)
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+7A>G
NM_153704.6(TMEM67):c.1065+9G>A
NM_153704.6(TMEM67):c.1066-16T>C
NM_153704.6(TMEM67):c.1066-4G>A
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.1101T>C (p.Ala367=)
NM_153704.6(TMEM67):c.1101T>G (p.Ala367=)
NM_153704.6(TMEM67):c.1104T>C (p.Tyr368=)
NM_153704.6(TMEM67):c.1107A>G (p.Ser369=)
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+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.1143T>C (p.Pro381=)
NM_153704.6(TMEM67):c.114C>T (p.Thr38=)
NM_153704.6(TMEM67):c.1203T>C (p.Tyr401=) rs1814042818
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.1263A>G (p.Gln421=)
NM_153704.6(TMEM67):c.1269T>C (p.Asn423=)
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+9T>A
NM_153704.6(TMEM67):c.1288+9T>C
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.1317T>A (p.Thr439=) rs1814090920
NM_153704.6(TMEM67):c.1371T>C (p.Thr457=)
NM_153704.6(TMEM67):c.1377A>G (p.Pro459=)
NM_153704.6(TMEM67):c.1386T>A (p.Ile462=)
NM_153704.6(TMEM67):c.1398T>G (p.Thr466=)
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.1413-6A>G
NM_153704.6(TMEM67):c.1422T>C (p.Leu474=)
NM_153704.6(TMEM67):c.1452C>T (p.Tyr484=)
NM_153704.6(TMEM67):c.1473C>G (p.Ala491=)
NM_153704.6(TMEM67):c.1506C>T (p.Ser502=)
NM_153704.6(TMEM67):c.1518+15del
NM_153704.6(TMEM67):c.1518+20G>T
NM_153704.6(TMEM67):c.1519-14G>C
NM_153704.6(TMEM67):c.1530A>G (p.Ser510=)
NM_153704.6(TMEM67):c.1575+15A>G
NM_153704.6(TMEM67):c.1575+16C>T rs2130711471
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.1576-20A>G rs1397119713
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.1599G>A (p.Gly533=)
NM_153704.6(TMEM67):c.159G>A (p.Gln53=)
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.1620T>G (p.Leu540=)
NM_153704.6(TMEM67):c.1621T>C (p.Leu541=)
NM_153704.6(TMEM67):c.1641G>A (p.Lys547=)
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.1675-10dup rs752404927
NM_153704.6(TMEM67):c.1675-18C>T
NM_153704.6(TMEM67):c.1675-8A>T
NM_153704.6(TMEM67):c.1690T>C (p.Leu564=) rs950429653
NM_153704.6(TMEM67):c.1701T>C (p.Tyr567=)
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.1773+13C>T
NM_153704.6(TMEM67):c.1773+17A>G
NM_153704.6(TMEM67):c.1774-19C>G
NM_153704.6(TMEM67):c.1774-4A>G
NM_153704.6(TMEM67):c.1774-7A>T
NM_153704.6(TMEM67):c.177C>A (p.Ala59=)
NM_153704.6(TMEM67):c.177C>T (p.Ala59=)
NM_153704.6(TMEM67):c.1785T>C (p.Ser595=)
NM_153704.6(TMEM67):c.1785T>G (p.Ser595=)
NM_153704.6(TMEM67):c.180C>T (p.Leu60=)
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly) rs142283122
NM_153704.6(TMEM67):c.1830C>G (p.Val610=)
NM_153704.6(TMEM67):c.1830C>T (p.Val610=)
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.18G>C (p.Gly6=) rs1812494244
NM_153704.6(TMEM67):c.1911C>T (p.Phe637=) rs863225225
NM_153704.6(TMEM67):c.1926G>A (p.Glu642=)
NM_153704.6(TMEM67):c.1956T>G (p.Val652=) rs2130734693
NM_153704.6(TMEM67):c.1960+9A>T
NM_153704.6(TMEM67):c.1977A>C (p.Arg659=)
NM_153704.6(TMEM67):c.2010A>T (p.Thr670=) rs137989705
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.2115G>A (p.Lys705=)
NM_153704.6(TMEM67):c.2142T>C (p.Ser714=)
NM_153704.6(TMEM67):c.2157C>T (p.Asn719=)
NM_153704.6(TMEM67):c.2160A>G (p.Pro720=)
NM_153704.6(TMEM67):c.2166C>T (p.Ser722=)
NM_153704.6(TMEM67):c.2175T>A (p.Ala725=)
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+7C>T
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.224-4_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.2247G>C (p.Val749=)
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.2295G>A (p.Gln765=)
NM_153704.6(TMEM67):c.2298C>T (p.Phe766=) rs372104198
NM_153704.6(TMEM67):c.2301T>G (p.Val767=)
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+20A>G
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.2343C>G (p.Ser781=)
NM_153704.6(TMEM67):c.2343C>T (p.Ser781=)
NM_153704.6(TMEM67):c.2373T>C (p.Gly791=) rs2130763777
NM_153704.6(TMEM67):c.237A>T (p.Val79=)
NM_153704.6(TMEM67):c.2388G>C (p.Gly796=) rs1586083001
NM_153704.6(TMEM67):c.2388G>T (p.Gly796=)
NM_153704.6(TMEM67):c.2427T>G (p.Leu809=)
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.2440-7T>C
NM_153704.6(TMEM67):c.2442A>G (p.Glu814=)
NM_153704.6(TMEM67):c.2445T>C (p.Asn815=)
NM_153704.6(TMEM67):c.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.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.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.2577A>G (p.Leu859=)
NM_153704.6(TMEM67):c.2598T>G (p.Thr866=)
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.2661+14del
NM_153704.6(TMEM67):c.2661+17T>A rs2130781754
NM_153704.6(TMEM67):c.2661+18T>G
NM_153704.6(TMEM67):c.2662-16T>C
NM_153704.6(TMEM67):c.2662-6T>A
NM_153704.6(TMEM67):c.2673A>G (p.Glu891=)
NM_153704.6(TMEM67):c.2688A>C (p.Ile896=)
NM_153704.6(TMEM67):c.2706T>C (p.Leu902=)
NM_153704.6(TMEM67):c.270T>C (p.Asn90=)
NM_153704.6(TMEM67):c.273A>C (p.Gly91=)
NM_153704.6(TMEM67):c.2764+10A>T rs900677485
NM_153704.6(TMEM67):c.2764+19T>C
NM_153704.6(TMEM67):c.2765-5A>G rs1808862357
NM_153704.6(TMEM67):c.2769A>G (p.Glu923=)
NM_153704.6(TMEM67):c.2772T>C (p.Gly924=)
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.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.2856G>A (p.Leu952=)
NM_153704.6(TMEM67):c.2877A>G (p.Leu959=)
NM_153704.6(TMEM67):c.2883C>T (p.Ser961=)
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.2934A>G (p.Val978=)
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.2988A>G (p.Ter996=)
NM_153704.6(TMEM67):c.312+15T>G
NM_153704.6(TMEM67):c.313-12C>G
NM_153704.6(TMEM67):c.313-12C>T
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153704.6(TMEM67):c.318T>C (p.Gly106=) rs1812680947
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.360C>T (p.Asp120=)
NM_153704.6(TMEM67):c.36G>A (p.Ala12=) rs766615868
NM_153704.6(TMEM67):c.36G>C (p.Ala12=)
NM_153704.6(TMEM67):c.390C>T (p.Pro130=)
NM_153704.6(TMEM67):c.39T>G (p.Val13=)
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+7A>C
NM_153704.6(TMEM67):c.407-19T>C
NM_153704.6(TMEM67):c.407-6G>C rs1271174081
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.45C>T (p.Ser15=)
NM_153704.6(TMEM67):c.471A>G (p.Glu157=) rs1812962110
NM_153704.6(TMEM67):c.48C>T (p.Leu16=)
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+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.522G>A (p.Glu174=)
NM_153704.6(TMEM67):c.546G>A (p.Arg182=) rs2130585586
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+9A>G rs2130585836
NM_153704.6(TMEM67):c.577-11T>C
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.57C>A (p.Ala19=) rs749429162
NM_153704.6(TMEM67):c.594C>T (p.Phe198=) rs149290663
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.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.687T>C (p.Tyr229=)
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+7T>C rs2130622573
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.720T>C (p.Tyr240=)
NM_153704.6(TMEM67):c.741A>G (p.Gln247=)
NM_153704.6(TMEM67):c.744T>C (p.Ala248=)
NM_153704.6(TMEM67):c.786T>C (p.Phe262=) rs1222482768
NM_153704.6(TMEM67):c.789C>T (p.Ala263=)
NM_153704.6(TMEM67):c.801A>G (p.Ala267=)
NM_153704.6(TMEM67):c.810A>G (p.Leu270=)
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.849T>G (p.Thr283=)
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.870-16T>C
NM_153704.6(TMEM67):c.870-8G>A
NM_153704.6(TMEM67):c.897T>C (p.Tyr299=)
NM_153704.6(TMEM67):c.939C>T (p.Thr313=)
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.979-15G>A
NM_153704.6(TMEM67):c.979-18C>T
NM_153704.6(TMEM67):c.990G>A (p.Leu330=)
NM_153704.6(TMEM67):c.99C>T (p.Phe33=)
NM_153704.6(TMEM67):c.9G>A (p.Thr3=) rs774376361

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