ClinVar Miner

List of variants studied for central nervous system malformation by Invitae

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3844
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.2770+18_2770+19insG rs11370883 0.99994
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg) rs2241088 0.93443
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) rs273269 0.85598
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_001368809.2(AMPD2):c.860+19A>G rs524998 0.73896
NM_001368809.2(AMPD2):c.1272T>C (p.His424=) rs863978 0.70414
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_001077418.3(TMEM231):c.-6G>C rs3743602 0.21908
NM_015631.6(TCTN3):c.500-11A>T rs11188434 0.18618
NM_014846.4(WASHC5):c.979-20C>T rs12546285 0.18463
NM_022836.4(DCLRE1B):c.234T>C (p.His78=) rs3761936 0.15394
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_014846.4(WASHC5):c.187-3C>T rs16900368 0.13363
NM_014846.4(WASHC5):c.417+11A>G rs2384917 0.13320
NM_001082486.2(ACD):c.1298+20C>A rs67114979 0.13128
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_001082486.2(ACD):c.413+3A>G rs8058187 0.12302
NM_014846.4(WASHC5):c.1764+12A>G rs3765213 0.11313
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_005027.4(PIK3R2):c.700= (p.Ser234=) rs2241088 0.06557
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_005027.4(PIK3R2):c.937= (p.Ser313=) rs1011320 0.04360
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr) rs149081991 0.03942
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=) rs28730848 0.03689
NM_001082486.2(ACD):c.1371G>T (p.Pro457=) rs14920 0.03535
NM_014846.4(WASHC5):c.186+17G>A rs59134934 0.03280
NC_000016.10:g.67660703A>G rs72547496 0.03001
NM_014846.4(WASHC5):c.1408+7A>G rs16900312 0.02845
NM_014846.4(WASHC5):c.1151-8G>A rs16900335 0.02839
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) rs10429323 0.02837
NM_001368809.2(AMPD2):c.1984-19C>T rs75276578 0.02404
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02380
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=) rs34030799 0.01484
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) rs28381079 0.01483
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130 0.01420
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052 0.01305
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=) rs116321373 0.01259
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=) rs147625988 0.00840
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=) rs201655779 0.00768
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_005027.4(PIK3R2):c.1736+12C>T rs112411913 0.00759
NM_001368809.2(AMPD2):c.223-4C>T rs116223306 0.00736
NM_005027.4(PIK3R2):c.415+18dup rs200295171 0.00686
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595 0.00544
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_001082486.2(ACD):c.1207-10C>T rs67185288 0.00536
NM_001082486.2(ACD):c.801C>T (p.Ala267=) rs72549181 0.00530
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_001082486.2(ACD):c.494-20C>T rs59443695 0.00465
NM_005027.4(PIK3R2):c.1560-17C>T rs183117011 0.00461
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser) rs143873873 0.00450
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_002601.4(PDE6D):c.371+8A>C rs75242814 0.00367
NM_014846.4(WASHC5):c.2100G>A (p.Val700=) rs148936723 0.00357
NM_005465.7(AKT3):c.1416C>G (p.Ser472=) rs148332912 0.00352
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888 0.00320
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=) rs114727970 0.00316
NM_001368809.2(AMPD2):c.1407+3A>G rs41280332 0.00312
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=) rs116415979 0.00302
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00251
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00242
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val) rs10413655 0.00240
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser) rs150026441 0.00235
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084 0.00224
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001044385.3(TMEM237):c.554-15G>A rs144051344 0.00213
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_001044385.3(TMEM237):c.396-14C>T rs74411816 0.00210
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553 0.00199
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) rs144843243 0.00192
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=) rs114624650 0.00189
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346 0.00188
NM_018718.3(CEP41):c.575-12T>C rs186638258 0.00185
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317 0.00181
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn) rs142298615 0.00181
NM_014846.4(WASHC5):c.2771-7T>C rs142685897 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_016042.4(EXOSC3):c.757A>G (p.Ile253Val) rs62640004 0.00177
NM_001368809.2(AMPD2):c.1984-15C>G rs368592941 0.00168
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=) rs35337955 0.00159
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111 0.00156
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_001368809.2(AMPD2):c.1276-20A>G rs140464475 0.00149
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721 0.00144
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_005465.7(AKT3):c.1359T>C (p.Asp453=) rs142844303 0.00141
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288 0.00138
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_005027.4(PIK3R2):c.1416+11C>T rs140187437 0.00133
NM_001077418.3(TMEM231):c.583-20A>T rs375984875 0.00128
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=) rs80242901 0.00128
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys) rs143719918 0.00127
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) rs145569979 0.00127
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) rs35397235 0.00126
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_015631.6(TCTN3):c.1591-5C>T rs181107730 0.00109
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=) rs112859649 0.00108
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln) rs202165114 0.00108
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950 0.00105
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=) rs114463063 0.00101
NM_005027.4(PIK3R2):c.696G>A (p.Val232=) rs571661207 0.00101
NM_014846.4(WASHC5):c.2199+5C>G rs149763012 0.00100
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549 0.00098
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala) rs61736727 0.00098
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524 0.00098
NM_002449.5(MSX2):c.117C>T (p.Arg39=) rs376630472 0.00097
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164 0.00096
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys) rs558127851 0.00095
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_001077418.3(TMEM231):c.-15C>T rs138060715 0.00092
NM_001368809.2(AMPD2):c.1408-12C>T rs189047791 0.00090
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=) rs199628375 0.00089
NM_001368809.2(AMPD2):c.1699-11T>C rs188035528 0.00087
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg) rs142423043 0.00086
NM_003384.3(VRK1):c.286+12A>G rs376603491 0.00085
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=) rs140523354 0.00083
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser) rs142933317 0.00080
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=) rs143654828 0.00080
NM_002601.4(PDE6D):c.140-3C>T rs368073853 0.00079
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=) rs146987351 0.00079
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386 0.00079
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015 0.00077
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397 0.00077
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650 0.00076
NM_005027.4(PIK3R2):c.1416+15G>A rs202218011 0.00076
NM_015631.6(TCTN3):c.500-6T>C rs201444392 0.00076
NM_014846.4(WASHC5):c.3181+4C>T rs372154199 0.00073
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221 0.00071
NM_015631.6(TCTN3):c.1764C>T (p.Val588=) rs137856303 0.00071
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=) rs147568068 0.00068
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830 0.00065
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417 0.00063
NM_015631.6(TCTN3):c.280T>C (p.Leu94=) rs367982164 0.00062
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=) rs149583035 0.00061
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_016464.5(TMEM138):c.461G>A (p.Arg154His) rs147966742 0.00059
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_016464.5(TMEM138):c.102T>A (p.Thr34=) rs139387935 0.00056
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys) rs147990742 0.00055
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val) rs142907217 0.00053
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg) rs373811074 0.00052
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=) rs140686003 0.00052
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_005465.7(AKT3):c.285-13C>T rs201603638 0.00051
NM_001368809.2(AMPD2):c.270G>T (p.Pro90=) rs139217835 0.00048
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu) rs201029925 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala) rs145464176 0.00048
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=) rs143163487 0.00045
NM_001082486.2(ACD):c.46C>A (p.Leu16Met) rs200365807 0.00044
NM_001082486.2(ACD):c.645+17G>A rs148412951 0.00044
NM_005465.7(AKT3):c.807C>T (p.Tyr269=) rs150205993 0.00044
NM_016042.4(EXOSC3):c.123C>T (p.Asp41=) rs147510873 0.00043
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046 0.00042
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) rs144640614 0.00042
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097 0.00041
NM_001077418.3(TMEM231):c.309+13C>A rs146945255 0.00041
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) rs201900751 0.00041
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728 0.00041
NM_005027.4(PIK3R2):c.1809-17A>G rs199501065 0.00040
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760 0.00039
NM_001368809.2(AMPD2):c.1081-8C>A rs145268448 0.00039
NM_005465.7(AKT3):c.792C>T (p.Ser264=) rs77764554 0.00039
NM_015631.6(TCTN3):c.1567C>T (p.Leu523=) rs150579201 0.00039
NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=) rs200330629 0.00039
NM_014846.4(WASHC5):c.2668-19C>T rs368313044 0.00038
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_005027.4(PIK3R2):c.657G>A (p.Ala219=) rs772272053 0.00037
NM_001082486.2(ACD):c.99+18G>A rs369046068 0.00036
NM_005027.4(PIK3R2):c.323-15del rs573541270 0.00036
NM_005465.7(AKT3):c.46+12G>A rs184404650 0.00036
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001368809.2(AMPD2):c.1699-12G>T rs372637186 0.00034
NM_001368809.2(AMPD2):c.633C>G (p.Thr211=) rs141818976 0.00034
NM_002601.4(PDE6D):c.258C>T (p.Cys86=) rs151191604 0.00034
NM_005465.7(AKT3):c.1163+17G>A rs367951410 0.00034
NM_001044385.3(TMEM237):c.554-10G>A rs371503069 0.00033
NM_001368809.2(AMPD2):c.1080+15C>T rs183445342 0.00033
NM_001368809.2(AMPD2):c.532-18G>A rs41314005 0.00032
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987 0.00031
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151 0.00031
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741 0.00031
NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=) rs147146700 0.00031
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=) rs749028997 0.00031
NM_005027.4(PIK3R2):c.302G>A (p.Arg101His) rs367971686 0.00031
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=) rs34474203 0.00031
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His) rs143568469 0.00031
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884 0.00030
NM_001077418.3(TMEM231):c.139+47C>A rs200063331 0.00029
NM_003384.3(VRK1):c.183A>C (p.Ser61=) rs150196318 0.00029
NM_005027.4(PIK3R2):c.1104C>T (p.Thr368=) rs551874555 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_018718.3(CEP41):c.423-18C>A rs371925259 0.00029
NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln) rs762238231 0.00028
NM_014846.4(WASHC5):c.12T>C (p.Phe4=) rs202120400 0.00028
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617 0.00026
NM_001044385.3(TMEM237):c.944-16T>C rs369720243 0.00026
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys) rs570605098 0.00026
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val) rs140103426 0.00026
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) rs200178501 0.00025
NM_005027.4(PIK3R2):c.323-16_323-15del rs374033727 0.00025
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_001077418.3(TMEM231):c.139+42G>A rs375718217 0.00024
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253 0.00024
NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=) rs371970036 0.00024
NM_005027.4(PIK3R2):c.1559+12G>A rs142415492 0.00024
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279 0.00024
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) rs749447795 0.00024
NM_016464.5(TMEM138):c.128+7G>T rs560650147 0.00023
NM_015631.6(TCTN3):c.1096-14C>A rs41291568 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu) rs28381069 0.00022
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447 0.00021
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=) rs757521991 0.00021
NM_003384.3(VRK1):c.1160G>A (p.Arg387His) rs1420939606 0.00021
NM_014846.4(WASHC5):c.2017-13T>C rs74458977 0.00021
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp) rs201178873 0.00021
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_001368809.2(AMPD2):c.2268+10C>T rs368736094 0.00020
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_005027.4(PIK3R2):c.902-17G>A rs199796442 0.00020
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro) rs140411676 0.00020
NM_001077418.3(TMEM231):c.140-15C>T rs201518524 0.00019
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001077418.3(TMEM231):c.438+12C>T rs1000442477 0.00019
NM_001082486.2(ACD):c.1152G>A (p.Pro384=) rs147116458 0.00019
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe) rs202133913 0.00019
NM_005027.4(PIK3R2):c.816-8C>T rs200494626 0.00018
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp) rs141081316 0.00018
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln) rs146482651 0.00018
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr) rs201412708 0.00017
NM_015631.6(TCTN3):c.537T>C (p.Asn179=) rs141346992 0.00017
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met) rs769393520 0.00017
NM_001044385.3(TMEM237):c.79+8del rs759786234 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=) rs371752653 0.00016
NM_001082486.2(ACD):c.837G>A (p.Pro279=) rs201965477 0.00016
NM_001368809.2(AMPD2):c.219C>T (p.Ala73=) rs140683735 0.00016
NM_001368809.2(AMPD2):c.582C>T (p.Leu194=) rs144177097 0.00016
NM_003384.3(VRK1):c.216+8A>G rs369680885 0.00016
NM_003384.3(VRK1):c.710-13C>T rs374386994 0.00016
NM_003384.3(VRK1):c.810T>C (p.Tyr270=) rs943810223 0.00016
NM_003384.3(VRK1):c.906C>T (p.Tyr302=) rs528346065 0.00016
NM_005027.4(PIK3R2):c.301C>T (p.Arg101Cys) rs187640248 0.00016
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His) rs151298198 0.00016
NM_014846.4(WASHC5):c.2199+4C>A rs145721086 0.00016
NM_014846.4(WASHC5):c.555T>C (p.Asp185=) rs145934920 0.00016
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys) rs888502576 0.00016
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val) rs866563020 0.00015
NM_001082486.2(ACD):c.846C>T (p.Pro282=) rs199856965 0.00015
NM_001368809.2(AMPD2):c.912C>T (p.Asp304=) rs141396033 0.00015
NM_005027.4(PIK3R2):c.1011-19A>G rs373122934 0.00015
NM_005465.7(AKT3):c.1398G>A (p.Pro466=) rs150573714 0.00015
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly) rs377047502 0.00015
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln) rs369010440 0.00014
NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser) rs150078051 0.00014
NM_001368809.2(AMPD2):c.1207C>T (p.Arg403Trp) rs373128067 0.00014
NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val) rs376516473 0.00014
NM_018718.3(CEP41):c.757+12G>T rs377656524 0.00014
NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=) rs183344879 0.00014
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu) rs149051014 0.00013
NM_005027.4(PIK3R2):c.1191C>T (p.Ser397=) rs201146203 0.00013
NM_005027.4(PIK3R2):c.126C>T (p.Gly42=) rs893028434 0.00013
NM_005027.4(PIK3R2):c.240C>T (p.Pro80=) rs370853734 0.00013
NM_014846.4(WASHC5):c.405A>G (p.Gly135=) rs529518868 0.00013
NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser) rs149728983 0.00013
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_003384.3(VRK1):c.759A>G (p.Gln253=) rs150534939 0.00012
NM_005027.4(PIK3R2):c.706G>A (p.Ala236Thr) rs941281903 0.00012
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_014846.4(WASHC5):c.187-6T>C rs200227798 0.00012
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val) rs146623998 0.00012
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=) rs369339497 0.00012
NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) rs768137956 0.00012
NM_015631.6(TCTN3):c.159G>A (p.Ala53=) rs540555381 0.00012
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg) rs141231095 0.00012
NM_016464.5(TMEM138):c.414C>T (p.Ala138=) rs151094420 0.00012
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala) rs781571059 0.00011
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn) rs143081480 0.00011
NM_001077418.3(TMEM231):c.583-9G>A rs371734111 0.00011
NM_001368809.2(AMPD2):c.27C>A (p.Gly9=) rs141792341 0.00011
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr) rs371024271 0.00011
NM_005027.4(PIK3R2):c.194G>A (p.Arg65Gln) rs374448993 0.00011
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr) rs150430170 0.00011
NM_014846.4(WASHC5):c.2098-13G>A rs375720047 0.00011
NM_014846.4(WASHC5):c.552C>T (p.Asp184=) rs140203497 0.00011
NM_014846.4(WASHC5):c.639G>C (p.Gln213His) rs141234822 0.00011
NM_015631.6(TCTN3):c.1452+16T>C rs779934498 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_016464.5(TMEM138):c.465G>A (p.Lys155=) rs141851191 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr) rs576982977 0.00010
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser) rs563492919 0.00010
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln) rs200293827 0.00010
NM_001368809.2(AMPD2):c.1080+9T>C rs202160763 0.00010
NM_001368809.2(AMPD2):c.174G>A (p.Pro58=) rs760164880 0.00010
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe) rs763310916 0.00010
NM_003384.3(VRK1):c.161-14A>G rs375176918 0.00010
NM_015631.6(TCTN3):c.1299-11T>C rs532774999 0.00010
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=) rs201367852 0.00010
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn) rs780308423 0.00010
NM_018718.3(CEP41):c.145+6del rs782483563 0.00010
NM_018718.3(CEP41):c.422+6C>T rs199678365 0.00010
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe) rs782137799 0.00010
NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val) rs142747676 0.00010
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys) rs368157267 0.00010
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=) rs751840699 0.00009
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=) rs375077045 0.00009
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535 0.00009
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=) rs758878104 0.00009
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser) rs370512338 0.00009
NM_003384.3(VRK1):c.216+19A>G rs200465413 0.00009
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg) rs149350224 0.00009
NM_005027.4(PIK3R2):c.1815C>T (p.Tyr605=) rs747442212 0.00009
NM_005027.4(PIK3R2):c.258C>T (p.Pro86=) rs565485814 0.00009
NM_005027.4(PIK3R2):c.527G>A (p.Ser176Asn) rs111848145 0.00009
NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys) rs200850741 0.00009
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn) rs758919422 0.00009
NM_014846.4(WASHC5):c.2139G>A (p.Glu713=) rs201066199 0.00009
NM_015631.6(TCTN3):c.576C>T (p.Gly192=) rs143020764 0.00009
NM_016464.5(TMEM138):c.128+3G>T rs754691659 0.00009
NM_016464.5(TMEM138):c.129-4A>G rs372877379 0.00009
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429 0.00009
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn) rs200392246 0.00009
NM_001044385.3(TMEM237):c.275-9T>C rs749658028 0.00008
NM_001082486.2(ACD):c.-24C>T rs770445581 0.00008
NM_001082486.2(ACD):c.493+7T>C rs199626332 0.00008
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser) rs775607009 0.00008
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu) rs374925782 0.00008
NM_001368809.2(AMPD2):c.726G>A (p.Pro242=) rs199980707 0.00008
NM_002449.5(MSX2):c.379+7G>C rs569601106 0.00008
NM_002449.5(MSX2):c.699G>A (p.Ala233=) rs201880865 0.00008
NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His) rs201531496 0.00008
NM_005027.4(PIK3R2):c.1290+4C>T rs376614345 0.00008
NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly) rs760280114 0.00008
NM_015631.6(TCTN3):c.1695A>G (p.Lys565=) rs370069674 0.00008
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile) rs201493612 0.00008
NM_015631.6(TCTN3):c.933G>T (p.Leu311=) rs371380545 0.00008
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu) rs773659373 0.00008
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp) rs777030988 0.00008
NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=) rs199507509 0.00008
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn) rs370614998 0.00008
NM_001077418.3(TMEM231):c.310-17C>T rs752375895 0.00007
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110 0.00007
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=) rs368594302 0.00007
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898 0.00007
NM_005465.7(AKT3):c.165A>G (p.Ser55=) rs369662909 0.00007
NM_005465.7(AKT3):c.306C>A (p.Ile102=) rs528649886 0.00007
NM_014846.4(WASHC5):c.1522-10T>A rs200283018 0.00007
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=) rs375214976 0.00007
NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr) rs373599521 0.00007
NM_014846.4(WASHC5):c.451C>T (p.Leu151=) rs6470336 0.00007
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=) rs184805842 0.00007
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) rs375708075 0.00007
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly) rs781835148 0.00007
NM_001044385.3(TMEM237):c.1160-1G>A rs747465681 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989 0.00006
NM_001044385.3(TMEM237):c.74+15C>T rs375401635 0.00006
NM_001044385.3(TMEM237):c.79+15T>C rs182250754 0.00006
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln) rs368402335 0.00006
NM_001077418.3(TMEM231):c.210G>T (p.Val70=) rs757361739 0.00006
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met) rs762041003 0.00006
NM_001077418.3(TMEM231):c.582+6A>G rs376300743 0.00006
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) rs776287219 0.00006
NM_001077418.3(TMEM231):c.665-19G>A rs200581224 0.00006
NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met) rs749833212 0.00006
NM_001368809.2(AMPD2):c.2158-9C>A rs756915998 0.00006
NM_001368809.2(AMPD2):c.2237A>G (p.Asn746Ser) rs764032802 0.00006
NM_001368809.2(AMPD2):c.2269-9T>G rs778204030 0.00006
NM_001368809.2(AMPD2):c.537G>A (p.Pro179=) rs776483432 0.00006
NM_001368809.2(AMPD2):c.818G>A (p.Arg273Gln) rs143736463 0.00006
NM_002449.5(MSX2):c.286G>T (p.Val96Leu) rs769329948 0.00006
NM_002449.5(MSX2):c.95A>T (p.Glu32Val) rs780593593 0.00006
NM_002601.4(PDE6D):c.201G>A (p.Ser67=) rs764377846 0.00006
NM_002601.4(PDE6D):c.408C>T (p.Asp136=) rs547505745 0.00006
NM_003384.3(VRK1):c.1005T>C (p.Asp335=) rs948151259 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_003384.3(VRK1):c.286+20T>C rs756827476 0.00006
NM_003384.3(VRK1):c.576+8T>C rs368495945 0.00006
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser) rs369310409 0.00006
NM_005027.4(PIK3R2):c.1629G>A (p.Glu543=) rs774532039 0.00006
NM_005027.4(PIK3R2):c.1968C>T (p.Ala656=) rs756868198 0.00006
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe) rs542398089 0.00006
NM_005027.4(PIK3R2):c.481G>A (p.Asp161Asn) rs1208639269 0.00006
NM_005465.7(AKT3):c.820-10T>G rs370193515 0.00006
NM_005465.7(AKT3):c.840C>T (p.Asp280=) rs201347487 0.00006
NM_014846.4(WASHC5):c.1550A>G (p.Asn517Ser) rs368546546 0.00006
NM_014846.4(WASHC5):c.18C>T (p.Ala6=) rs17852424 0.00006
NM_014846.4(WASHC5):c.2151C>T (p.Arg717=) rs766145087 0.00006
NM_014846.4(WASHC5):c.2850+4T>C rs770743674 0.00006
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr) rs142883794 0.00006
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg) rs151123934 0.00006
NM_015631.6(TCTN3):c.1096-13C>T rs372991715 0.00006
NM_015631.6(TCTN3):c.1680C>T (p.Pro560=) rs761227686 0.00006
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys) rs780304630 0.00006
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile) rs769275482 0.00006
NM_016464.5(TMEM138):c.81C>T (p.Phe27=) rs149327827 0.00006
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_018718.3(CEP41):c.1032C>T (p.Ser344=) rs189895981 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_018718.3(CEP41):c.407G>A (p.Arg136His) rs546106020 0.00006
NM_018718.3(CEP41):c.957G>A (p.Gly319=) rs367931878 0.00006
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg) rs764178255 0.00006
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala) rs200134441 0.00006
NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=) rs768273057 0.00006
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln) rs201436658 0.00006
NM_001044385.3(TMEM237):c.137-14C>G rs760624801 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001077418.2(TMEM231):c.-62A>C rs964025567 0.00005
NM_001077418.3(TMEM231):c.664+4A>G rs760426025 0.00005
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=) rs769897831 0.00005
NM_001082486.2(ACD):c.100-7C>G rs774058030 0.00005
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg) rs553014261 0.00005
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys) rs531580930 0.00005
NM_001082486.2(ACD):c.1226G>A (p.Arg409His) rs374742891 0.00005
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met) rs372747629 0.00005
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys) rs200909340 0.00005
NM_001082486.2(ACD):c.617A>C (p.His206Pro) rs755371076 0.00005
NM_001082486.2(ACD):c.793C>G (p.Leu265Val) rs200934242 0.00005
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met) rs374249741 0.00005
NM_001368809.2(AMPD2):c.1193G>A (p.Arg398His) rs138073893 0.00005
NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys) rs147463318 0.00005
NM_001368809.2(AMPD2):c.72G>A (p.Gln24=) rs143354905 0.00005
NM_002601.4(PDE6D):c.174A>G (p.Ala58=) rs139835658 0.00005
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln) rs1412431442 0.00005
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr) rs1041937206 0.00005
NM_005027.4(PIK3R2):c.107C>T (p.Ala36Val) rs768075445 0.00005
NM_005027.4(PIK3R2):c.1440A>C (p.Ala480=) rs748631629 0.00005
NM_005027.4(PIK3R2):c.564C>G (p.Pro188=) rs756748269 0.00005
NM_005465.7(AKT3):c.1202G>A (p.Arg401Lys) rs771494754 0.00005
NM_005465.7(AKT3):c.996A>G (p.Leu332=) rs371532988 0.00005
NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=) rs202216835 0.00005
NM_014846.4(WASHC5):c.2013C>T (p.Tyr671=) rs769262318 0.00005
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys) rs202015963 0.00005
NM_015631.6(TCTN3):c.1452+17A>G rs376162804 0.00005
NM_015631.6(TCTN3):c.1591-4G>A rs376757601 0.00005
NM_015631.6(TCTN3):c.488A>G (p.His163Arg) rs376756059 0.00005
NM_015631.6(TCTN3):c.888+10T>C rs746513472 0.00005
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val) rs745506522 0.00005
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala) rs764405866 0.00005
NM_018718.3(CEP41):c.146-11A>G rs781817949 0.00005
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=) rs199758910 0.00005
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011 0.00004
NM_001044385.3(TMEM237):c.274+11A>G rs200487330 0.00004
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440 0.00004
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=) rs544767440 0.00004
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp) rs370790275 0.00004
NM_001044385.3(TMEM237):c.43-8C>T rs759325746 0.00004
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met) rs755252433 0.00004
NM_001044385.3(TMEM237):c.553+9A>T rs568158023 0.00004
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met) rs374042611 0.00004
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro) rs200892635 0.00004
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val) rs374399278 0.00004
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384 0.00004
NM_001077418.3(TMEM231):c.139+27C>T rs773052053 0.00004
NM_001077418.3(TMEM231):c.140-33C>T rs901311435 0.00004
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098 0.00004
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=) rs760694007 0.00004
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=) rs778118263 0.00004
NM_001077418.3(TMEM231):c.309+12C>A rs561475784 0.00004
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln) rs756494100 0.00004
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001077418.3(TMEM231):c.665-10T>C rs201237881 0.00004
NM_001077418.3(TMEM231):c.759G>A (p.Val253=) rs1020757759 0.00004
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr) rs770469234 0.00004
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met) rs373660568 0.00004
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His) rs753292136 0.00004
NM_001082486.1(ACD):c.20G>C (p.Ser7Thr) rs373593390 0.00004
NM_001082486.1(ACD):c.78C>T (p.Ser26=) rs142762905 0.00004
NM_001082486.1(ACD):c.80G>A (p.Gly27Glu) rs778255016 0.00004
NM_001082486.1(ACD):c.9C>G (p.Gly3=) rs201685459 0.00004
NM_001082486.2(ACD):c.1207-8C>T rs201192255 0.00004
NM_001082486.2(ACD):c.242+7G>A rs368510441 0.00004
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys) rs781239912 0.00004
NM_001082486.2(ACD):c.513T>G (p.Leu171=) rs755523137 0.00004
NM_001082486.2(ACD):c.741G>C (p.Gln247His) rs776468683 0.00004
NM_001082486.2(ACD):c.861C>T (p.Ser287=) rs751515020 0.00004
NM_001082486.2(ACD):c.876C>T (p.Thr292=) rs372485172 0.00004
NM_001082486.2(ACD):c.944C>A (p.Pro315His) rs147306863 0.00004
NM_001368809.2(AMPD2):c.-43G>T rs768664971 0.00004
NM_001368809.2(AMPD2):c.-94G>T rs1012698060 0.00004
NM_001368809.2(AMPD2):c.1236G>A (p.Thr412=) rs143970486 0.00004
NM_001368809.2(AMPD2):c.1479G>A (p.Ser493=) rs777419165 0.00004
NM_001368809.2(AMPD2):c.1734G>A (p.Lys578=) rs781503038 0.00004
NM_001368809.2(AMPD2):c.1750T>C (p.Phe584Leu) rs763257527 0.00004
NM_001368809.2(AMPD2):c.1871G>T (p.Gly624Val) rs1349754803 0.00004
NM_001368809.2(AMPD2):c.222+19C>T rs200880116 0.00004
NM_001368809.2(AMPD2):c.2269-12C>T rs753510697 0.00004
NM_001368809.2(AMPD2):c.283G>A (p.Glu95Lys) rs776751502 0.00004
NM_001368809.2(AMPD2):c.423-20C>T rs112705694 0.00004
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val) rs145441666 0.00004
NM_001368809.2(AMPD2):c.861-11C>T rs368738130 0.00004
NM_002449.5(MSX2):c.380-9G>C rs769673082 0.00004
NM_002449.5(MSX2):c.49G>A (p.Gly17Ser) rs754789827 0.00004
NM_002449.5(MSX2):c.723G>A (p.Pro241=) rs201103544 0.00004
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile) rs766118708 0.00004
NM_002601.4(PDE6D):c.50+16C>A rs993589615 0.00004
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val) rs147604836 0.00004
NM_003384.3(VRK1):c.1170C>G (p.Thr390=) rs776701715 0.00004
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu) rs777028935 0.00004
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln) rs536881543 0.00004
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys) rs769507445 0.00004
NM_003384.3(VRK1):c.663C>T (p.His221=) rs376006178 0.00004
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) rs146113610 0.00004
NM_005027.4(PIK3R2):c.108G>A (p.Ala36=) rs761735561 0.00004
NM_005027.4(PIK3R2):c.1215C>T (p.Tyr405=) rs200914853 0.00004
NM_005027.4(PIK3R2):c.1428G>T (p.Met476Ile) rs200508580 0.00004
NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys) rs1022260890 0.00004
NM_005027.4(PIK3R2):c.1980-5C>T rs771103459 0.00004
NM_005027.4(PIK3R2):c.271C>T (p.Arg91Trp) rs752430880 0.00004
NM_005465.7(AKT3):c.1104A>G (p.Thr368=) rs774883413 0.00004
NM_005465.7(AKT3):c.16A>G (p.Ile6Val) rs750279631 0.00004
NM_005465.7(AKT3):c.820-18A>G rs750153115 0.00004
NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn) rs766834356 0.00004
NM_014846.4(WASHC5):c.1830C>T (p.Ser610=) rs190138661 0.00004
NM_014846.4(WASHC5):c.2238G>A (p.Ala746=) rs376307168 0.00004
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln) rs749703625 0.00004
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala) rs553869211 0.00004
NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu) rs757250722 0.00004
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) rs367744328 0.00004
NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys) rs758843087 0.00004
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=) rs200733182 0.00004
NM_014846.4(WASHC5):c.439G>A (p.Gly147Arg) rs979115163 0.00004
NM_014846.4(WASHC5):c.612A>G (p.Pro204=) rs376240904 0.00004
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr) rs1218811554 0.00004
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter) rs387907273 0.00004
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs) rs755903123 0.00004
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser) rs755942179 0.00004
NM_015631.6(TCTN3):c.1590+4A>T rs756071891 0.00004
NM_015631.6(TCTN3):c.1591-12T>C rs373643964 0.00004
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr) rs143758863 0.00004
NM_015631.6(TCTN3):c.381-19C>G rs759096352 0.00004
NM_015631.6(TCTN3):c.627+6C>T rs190843846 0.00004
NM_016042.4(EXOSC3):c.24G>T (p.Ala8=) rs755145404 0.00004
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=) rs910605187 0.00004
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile) rs763118625 0.00004
NM_016464.5(TMEM138):c.377-3C>T rs774110963 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716 0.00004
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly) rs782048004 0.00004
NM_018718.3(CEP41):c.213C>T (p.Ile71=) rs370498782 0.00004
NM_018718.3(CEP41):c.277+16G>C rs782272723 0.00004
NM_018718.3(CEP41):c.357G>A (p.Ser119=) rs1179996142 0.00004
NM_018718.3(CEP41):c.716T>C (p.Met239Thr) rs200882016 0.00004
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu) rs200709703 0.00004
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg) rs782392521 0.00004
NM_022836.4(DCLRE1B):c.15G>C (p.Leu5=) rs746144334 0.00004
NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=) rs774530909 0.00004
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) rs1199130382 0.00004
NM_022914.2(ACD):c.116G>A (p.Arg39His) rs199612237 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 0.00004
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr) rs776825848 0.00003
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=) rs879874108 0.00003
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) rs957203033 0.00003
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp) rs972949531 0.00003
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly) rs771350638 0.00003
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr) rs772074875 0.00003
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461 0.00003
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val) rs768672107 0.00003
NM_001044385.3(TMEM237):c.869+4A>G rs771107990 0.00003
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001077418.2(TMEM231):c.-46G>A rs752769188 0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser) rs372775075 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001077418.3(TMEM231):c.284del (p.Asp95fs) rs750897443 0.00003
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=) rs534627748 0.00003
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn) rs769321473 0.00003
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln) rs1033608835 0.00003
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600 0.00003
NM_001077418.3(TMEM231):c.771-4A>C rs199768195 0.00003
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=) rs1412070252 0.00003
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg) rs753367228 0.00003
NM_001082486.1(ACD):c.27C>T (p.Ala9=) rs780167082 0.00003
NM_001082486.2(ACD):c.1017C>T (p.Ser339=) rs769298187 0.00003
NM_001082486.2(ACD):c.1077G>C (p.Gln359His) rs200526158 0.00003
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu) rs781117606 0.00003
NM_001082486.2(ACD):c.1269G>A (p.Thr423=) rs751284994 0.00003
NM_001082486.2(ACD):c.242+13dup rs774149870 0.00003
NM_001082486.2(ACD):c.255G>A (p.Glu85=) rs146942923 0.00003
NM_001082486.2(ACD):c.337-14C>T rs765992071 0.00003
NM_001082486.2(ACD):c.602C>T (p.Ala201Val) rs777707916 0.00003
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser) rs758700674 0.00003
NM_001082486.2(ACD):c.829+11G>A rs778449742 0.00003
NM_001082486.2(ACD):c.891G>A (p.Leu297=) rs1459307216 0.00003
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser) rs1300291520 0.00003
NM_001368809.2(AMPD2):c.-13C>T rs759860840 0.00003
NM_001368809.2(AMPD2):c.-149G>A rs773946980 0.00003
NM_001368809.2(AMPD2):c.-19C>T rs771607197 0.00003
NM_001368809.2(AMPD2):c.-52C>G rs570541266 0.00003
NM_001368809.2(AMPD2):c.-67T>C rs745646206 0.00003
NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr) rs149171366 0.00003
NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr) rs374652371 0.00003
NM_001368809.2(AMPD2):c.1522C>T (p.Arg508Cys) rs146798795 0.00003
NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn) rs754712604 0.00003
NM_001368809.2(AMPD2):c.1895C>T (p.Pro632Leu) rs746845817 0.00003
NM_001368809.2(AMPD2):c.2184C>T (p.Ile728=) rs367822022 0.00003
NM_001368809.2(AMPD2):c.353+9G>A rs371094107 0.00003
NM_001368809.2(AMPD2):c.433G>C (p.Glu145Gln) rs753757082 0.00003
NM_001368809.2(AMPD2):c.579G>A (p.Ala193=) rs183170041 0.00003
NM_002449.5(MSX2):c.255C>T (p.Gly85=) rs367614252 0.00003
NM_002449.5(MSX2):c.379+9G>A rs766596963 0.00003
NM_002449.5(MSX2):c.484C>T (p.Arg162Cys) rs555293970 0.00003
NM_002449.5(MSX2):c.749C>T (p.Pro250Leu) rs374244313 0.00003
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser) rs776218196 0.00003
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala) rs199759408 0.00003
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met) rs369917766 0.00003
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile) rs1392561922 0.00003
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys) rs755450815 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003384.3(VRK1):c.577-19G>C rs781055432 0.00003
NM_003384.3(VRK1):c.882C>T (p.Asn294=) rs541660707 0.00003
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=) rs546014325 0.00003
NM_005027.4(PIK3R2):c.1808+10C>T rs549556976 0.00003
NM_005027.4(PIK3R2):c.467-17C>T rs373288144 0.00003
NM_005027.4(PIK3R2):c.59C>T (p.Pro20Leu) rs929809973 0.00003
NM_005027.4(PIK3R2):c.734C>A (p.Ala245Asp) rs897040629 0.00003
NM_005465.7(AKT3):c.906C>T (p.Thr302=) rs770248544 0.00003
NM_014846.4(WASHC5):c.1094G>C (p.Cys365Ser) rs756457820 0.00003
NM_014846.4(WASHC5):c.1173C>A (p.Arg391=) rs1344658074 0.00003
NM_014846.4(WASHC5):c.1642A>G (p.Met548Val) rs138176168 0.00003
NM_014846.4(WASHC5):c.1779C>T (p.Leu593=) rs147434450 0.00003
NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg) rs747787888 0.00003
NM_014846.4(WASHC5):c.3201G>A (p.Pro1067=) rs754759068 0.00003
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln) rs762522662 0.00003
NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=) rs749478956 0.00003
NM_014846.4(WASHC5):c.777C>T (p.Tyr259=) rs781517421 0.00003
NM_015631.6(TCTN3):c.1134T>G (p.Pro378=) rs771848227 0.00003
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu) rs535199429 0.00003
NM_015631.6(TCTN3):c.153A>G (p.Ser51=) rs937027387 0.00003
NM_015631.6(TCTN3):c.178G>A (p.Val60Met) rs557962090 0.00003
NM_015631.6(TCTN3):c.18C>T (p.Leu6=) rs879694012 0.00003
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) rs758230758 0.00003
NM_016042.4(EXOSC3):c.475-12A>G rs370087266 0.00003
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met) rs565320740 0.00003
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala) rs755251825 0.00003
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923 0.00003
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp) rs750788154 0.00003
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser) rs782131552 0.00003
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys) rs138907207 0.00003
NM_018718.3(CEP41):c.225C>T (p.Ser75=) rs1402831101 0.00003
NM_018718.3(CEP41):c.33+9C>G rs376019428 0.00003
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter) rs781848162 0.00003
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala) rs782769549 0.00003
NM_018718.3(CEP41):c.510C>T (p.Asp170=) rs782083906 0.00003
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402 0.00003
NM_018718.3(CEP41):c.643-6T>A rs782610948 0.00003
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307 0.00003
NM_018718.3(CEP41):c.725G>A (p.Arg242His) rs191246968 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300 0.00003
NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala) rs367553852 0.00003
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met) rs375759945 0.00003
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg) rs770223898 0.00003
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser) rs757797519 0.00003
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met) rs749431578 0.00003
NM_001044385.3(TMEM237):c.137-3T>C rs540193518 0.00002
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser) rs1269827788 0.00002
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser) rs372581479 0.00002
NM_001044385.3(TMEM237):c.274+18G>A rs762194214 0.00002
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu) rs17856844 0.00002
NM_001044385.3(TMEM237):c.553+1G>A rs80034299 0.00002
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp) rs754056989 0.00002
NM_001044385.3(TMEM237):c.74+16A>G rs538615771 0.00002
NM_001044385.3(TMEM237):c.75-7G>A rs1443411958 0.00002
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=) rs934193386 0.00002
NM_001044385.3(TMEM237):c.943+1G>T rs748510210 0.00002
NM_001077418.3(TMEM231):c.-17G>A rs768513169 0.00002
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr) rs1197109885 0.00002
NM_001077418.3(TMEM231):c.139+17C>T rs759518508 0.00002
NM_001077418.3(TMEM231):c.140-35C>T rs750621210 0.00002
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln) rs771783989 0.00002
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447 0.00002
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) rs774091057 0.00002
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser) rs775968168 0.00002
NM_001077418.3(TMEM231):c.309+20G>T rs1186787656 0.00002
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=) rs774761408 0.00002
NM_001077418.3(TMEM231):c.456G>A (p.Val152=) rs571562822 0.00002
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr) rs768932063 0.00002
NM_001077418.3(TMEM231):c.582+9G>A rs1266194059 0.00002
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val) rs778298588 0.00002
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys) rs374279951 0.00002
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr) rs775383043 0.00002
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu) rs761280513 0.00002
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp) rs770715825 0.00002
NM_001082486.1(ACD):c.102A>C (p.Arg34=) rs773306733 0.00002
NM_001082486.1(ACD):c.43G>A (p.Gly15Arg) rs752006255 0.00002
NM_001082486.1(ACD):c.84T>C (p.Ser28=) rs753040978 0.00002
NM_001082486.2(ACD):c.1004G>A (p.Arg335His) rs774558672 0.00002
NM_001082486.2(ACD):c.1211C>A (p.Pro404His) rs201907421 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg) rs773274371 0.00002
NM_001082486.2(ACD):c.1314C>T (p.Leu438=) rs528476326 0.00002
NM_001082486.2(ACD):c.1320C>T (p.Ala440=) rs765091780 0.00002
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu) rs150387011 0.00002
NM_001082486.2(ACD):c.159C>T (p.Asp53=) rs761226246 0.00002
NM_001082486.2(ACD):c.413+9T>C rs774274068 0.00002
NM_001082486.2(ACD):c.459-18G>A rs1449515028 0.00002
NM_001082486.2(ACD):c.545dup (p.Ala184fs) rs1567641214 0.00002
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile) rs1181866888 0.00002
NM_001082486.2(ACD):c.608_609del (p.Pro203fs) rs777476880 0.00002
NM_001082486.2(ACD):c.609T>C (p.Pro203=) rs752926001 0.00002
NM_001082486.2(ACD):c.642C>T (p.Ala214=) rs375866577 0.00002
NM_001082486.2(ACD):c.743-14C>T rs781614614 0.00002
NM_001082486.2(ACD):c.743-17C>T rs746257998 0.00002
NM_001082486.2(ACD):c.853A>G (p.Met285Val) rs780951085 0.00002
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu) rs1006777863 0.00002
NM_001082486.2(ACD):c.99+20C>T rs751731124 0.00002
NM_001368809.2(AMPD2):c.-112G>A rs759948714 0.00002
NM_001368809.2(AMPD2):c.1050G>A (p.Val350=) rs758064430 0.00002
NM_001368809.2(AMPD2):c.1203G>A (p.Thr401=) rs756936910 0.00002
NM_001368809.2(AMPD2):c.1276-4C>T rs769541378 0.00002
NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu) rs770051774 0.00002
NM_001368809.2(AMPD2):c.1673C>T (p.Pro558Leu) rs780742359 0.00002
NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe) rs766037337 0.00002
NM_001368809.2(AMPD2):c.1862+10C>T rs371378180 0.00002
NM_001368809.2(AMPD2):c.223-5C>A rs764953041 0.00002
NM_001368809.2(AMPD2):c.353+10G>A rs1269768577 0.00002
NM_001368809.2(AMPD2):c.841C>T (p.Arg281Cys) rs769550203 0.00002
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr) rs747438024 0.00002
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724 0.00002
NM_002449.5(MSX2):c.803A>G (p.Ter268=) rs1436220047 0.00002
NM_002601.4(PDE6D):c.363C>T (p.Ser121=) rs1206823310 0.00002
NM_003384.3(VRK1):c.1065A>C (p.Thr355=) rs765863043 0.00002
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter) rs184887106 0.00002
NM_003384.3(VRK1):c.1164A>C (p.Ser388=) rs760801260 0.00002
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala) rs756589419 0.00002
NM_003384.3(VRK1):c.26C>T (p.Ala9Val) rs771269721 0.00002
NM_003384.3(VRK1):c.308G>A (p.Arg103His) rs779386449 0.00002
NM_003384.3(VRK1):c.327T>G (p.Gly109=) rs560242666 0.00002
NM_003384.3(VRK1):c.39C>T (p.Ser13=) rs759767615 0.00002
NM_003384.3(VRK1):c.462C>T (p.Val154=) rs757654085 0.00002
NM_005027.4(PIK3R2):c.1288C>G (p.Gln430Glu) rs754971694 0.00002
NM_005027.4(PIK3R2):c.1532G>A (p.Arg511His) rs566152147 0.00002
NM_005027.4(PIK3R2):c.2037C>T (p.Phe679=) rs112163556 0.00002
NM_005027.4(PIK3R2):c.265C>T (p.Arg89Cys) rs759139578 0.00002
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn) rs774502328 0.00002
NM_005027.4(PIK3R2):c.322+7A>G rs774883359 0.00002
NM_005465.7(AKT3):c.1050C>T (p.Asp350=) rs1026697335 0.00002
NM_005465.7(AKT3):c.1163+16C>T rs781443210 0.00002
NM_005465.7(AKT3):c.1386T>C (p.Asn462=) rs778193336 0.00002
NM_005465.7(AKT3):c.47-18C>T rs186964075 0.00002
NM_005465.7(AKT3):c.564T>C (p.Asp188=) rs775503811 0.00002
NM_005465.7(AKT3):c.882A>G (p.Lys294=) rs766767139 0.00002
NM_014846.4(WASHC5):c.1210C>T (p.Arg404Trp) rs758878691 0.00002
NM_014846.4(WASHC5):c.1589T>C (p.Phe530Ser) rs184557946 0.00002
NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr) rs199936194 0.00002
NM_014846.4(WASHC5):c.1668C>T (p.Phe556=) rs199725572 0.00002
NM_014846.4(WASHC5):c.1689-4A>G rs777297323 0.00002
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=) rs750122277 0.00002
NM_014846.4(WASHC5):c.2025G>A (p.Lys675=) rs769221945 0.00002
NM_014846.4(WASHC5):c.2380-6T>C rs375887732 0.00002
NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=) rs554772608 0.00002
NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr) rs761053851 0.00002
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg) rs202184316 0.00002
NM_014846.4(WASHC5):c.417+9T>C rs758034244 0.00002
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) rs565980279 0.00002
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=) rs750698768 0.00002
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr) rs765375312 0.00002
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys) rs777277759 0.00002
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu) rs1399269953 0.00002
NM_015631.6(TCTN3):c.1298+16C>T rs777492522 0.00002
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His) rs754607949 0.00002
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn) rs1190331074 0.00002
NM_015631.6(TCTN3):c.1539G>A (p.Pro513=) rs1026823695 0.00002
NM_015631.6(TCTN3):c.1591-9T>G rs1317879597 0.00002
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala) rs1290852650 0.00002
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val) rs759598264 0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_015631.6(TCTN3):c.499+5G>T rs1242330719 0.00002
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser) rs541135431 0.00002
NM_015631.6(TCTN3):c.889-18G>C rs1254012662 0.00002
NM_015631.6(TCTN3):c.931C>T (p.Leu311=) rs774592467 0.00002
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys) rs1176554738 0.00002
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016042.4(EXOSC3):c.783G>A (p.Thr261=) rs376325566 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016464.5(TMEM138):c.128+8C>T rs769334895 0.00002
NM_016464.5(TMEM138):c.136G>C (p.Asp46His) rs375503806 0.00002
NM_016464.5(TMEM138):c.192C>T (p.Phe64=) rs199841349 0.00002
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys) rs202210746 0.00002
NM_016464.5(TMEM138):c.426C>T (p.Gly142=) rs781330063 0.00002
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002
NM_018718.3(CEP41):c.1050T>G (p.Gly350=) rs374440977 0.00002
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr) rs201490201 0.00002
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter) rs139909606 0.00002
NM_018718.3(CEP41):c.205C>T (p.Leu69=) rs144793783 0.00002
NM_018718.3(CEP41):c.277+19G>A rs377242873 0.00002
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165 0.00002
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser) rs781914996 0.00002
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe) rs782265732 0.00002
NM_018718.3(CEP41):c.653A>C (p.His218Pro) rs527896814 0.00002
NM_018718.3(CEP41):c.664A>G (p.Ile222Val) rs560824415 0.00002
NM_018718.3(CEP41):c.723G>A (p.Glu241=) rs782303641 0.00002
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu) rs782241458 0.00002
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu) rs782704918 0.00002
NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu) rs527254164 0.00002
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala) rs777529403 0.00002
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu) rs780781288 0.00002
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg) rs745340882 0.00002
NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=) rs760179150 0.00002
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly) rs764770290 0.00002
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) rs150374247 0.00002
NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=) rs144459176 0.00002
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg) rs755456896 0.00002
NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=) rs574323645 0.00002
NM_022836.4(DCLRE1B):c.858C>T (p.Val286=) rs773997509 0.00002
NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=) rs750879802 0.00002
NC_000016.10:g.67660316G>T rs774922687 0.00001
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu) rs1559590115 0.00001
NM_001044385.3(TMEM237):c.1038-6T>G rs758523904 0.00001
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp) rs747158935 0.00001
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val) rs1437714395 0.00001
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860 0.00001
NM_001044385.3(TMEM237):c.1159+20G>A rs1162670210 0.00001
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys) rs373445814 0.00001
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328 0.00001
NM_001044385.3(TMEM237):c.136+17T>C rs1461794959 0.00001
NM_001044385.3(TMEM237):c.136+1G>T rs778823927 0.00001
NM_001044385.3(TMEM237):c.136+7C>T rs768764111 0.00001
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp) rs779250127 0.00001
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter) rs1687223389 0.00001
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys) rs1186656902 0.00001
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val) rs759392151 0.00001
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val) rs772680401 0.00001
NM_001044385.3(TMEM237):c.42+15G>A rs1461749315 0.00001
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser) rs750312169 0.00001
NM_001044385.3(TMEM237):c.43-6C>T rs886974025 0.00001
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala) rs184256195 0.00001
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu) rs771052304 0.00001
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys) rs762678333 0.00001
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=) rs1466574515 0.00001
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=) rs754056989 0.00001
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His) rs186216206 0.00001
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro) rs373956551 0.00001
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr) rs773685442 0.00001
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg) rs749330370 0.00001
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080 0.00001
NM_001044385.3(TMEM237):c.677+1G>A rs793888505 0.00001
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=) rs370681829 0.00001
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser) rs769694232 0.00001
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met) rs759814109 0.00001
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001044385.3(TMEM237):c.869+5T>C rs530769303 0.00001
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys) rs1209527419 0.00001
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln) rs745540263 0.00001
NM_001044385.3(TMEM237):c.943+5G>A rs779322966 0.00001
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His) rs576586379 0.00001
NM_001077418.2(TMEM231):c.-44C>A rs1419518232 0.00001
NM_001077418.3(TMEM231):c.-12C>G rs745498623 0.00001
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521 0.00001
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092 0.00001
NM_001077418.3(TMEM231):c.139+23G>A rs770598456 0.00001
NM_001077418.3(TMEM231):c.139+24C>T rs746632596 0.00001
NM_001077418.3(TMEM231):c.139+25C>T rs1474874368 0.00001
NM_001077418.3(TMEM231):c.139+39G>T rs1448302846 0.00001
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=) rs1444231443 0.00001
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg) rs766492182 0.00001
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val) rs1309156955 0.00001
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn) rs759954710 0.00001
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg) rs1255071095 0.00001
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro) rs1202833405 0.00001
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val) rs750935858 0.00001
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser) rs566395744 0.00001
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser) rs778407563 0.00001
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=) rs751631216 0.00001
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg) rs763194213 0.00001
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=) rs748111030 0.00001
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter) rs543122080 0.00001
NM_001077418.3(TMEM231):c.582+1G>A rs752141701 0.00001
NM_001077418.3(TMEM231):c.583-10C>T rs774265542 0.00001
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met) rs745485432 0.00001
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=) rs959165450 0.00001
NM_001077418.3(TMEM231):c.665-3C>T rs780063686 0.00001
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile) rs746055228 0.00001
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=) rs750043051 0.00001
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189 0.00001
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=) rs746685376 0.00001
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu) rs1230743826 0.00001
NM_001077418.3(TMEM231):c.770+18G>T rs1413880610 0.00001
NM_001077418.3(TMEM231):c.771-6C>A rs1160382019 0.00001
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val) rs768632156 0.00001
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=) rs759314500 0.00001
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln) rs746970206 0.00001
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=) rs1435643293 0.00001
NM_001082486.1(ACD):c.107G>A (p.Gly36Glu) rs527307806 0.00001
NM_001082486.1(ACD):c.122A>C (p.Gln41Pro) rs755584473 0.00001
NM_001082486.1(ACD):c.125C>A (p.Ala42Glu) rs1396620065 0.00001
NM_001082486.1(ACD):c.131G>T (p.Gly44Val) rs756883228 0.00001
NM_001082486.1(ACD):c.174G>A (p.Lys58=) rs780457506 0.00001
NM_001082486.1(ACD):c.215C>A (p.Ala72Glu) rs765105630 0.00001
NM_001082486.1(ACD):c.67G>C (p.Gly23Arg) rs760222002 0.00001
NM_001082486.1(ACD):c.77G>C (p.Ser26Thr) rs781229512 0.00001
NM_001082486.1(ACD):c.91A>G (p.Thr31Ala) rs949049586 0.00001
NM_001082486.1(ACD):c.97C>T (p.Pro33Ser) rs776842448 0.00001
NM_001082486.2(ACD):c.-1G>C rs1432567553 0.00001
NM_001082486.2(ACD):c.-20C>T rs148124985 0.00001
NM_001082486.2(ACD):c.-37C>T rs1377497479 0.00001
NM_001082486.2(ACD):c.1002C>T (p.Ser334=) rs372195324 0.00001
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn) rs368783801 0.00001
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala) rs745338439 0.00001
NM_001082486.2(ACD):c.1032C>T (p.Cys344=) rs776364958 0.00001
NM_001082486.2(ACD):c.1046del (p.Ser349fs) rs1291433639 0.00001
NM_001082486.2(ACD):c.1052G>A (p.Arg351His) rs370293582 0.00001
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser) rs757414908 0.00001
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser) rs996525402 0.00001
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu) rs772867895 0.00001
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp) rs747913250 0.00001
NM_001082486.2(ACD):c.114C>G (p.Ala38=) rs756189227 0.00001
NM_001082486.2(ACD):c.1158T>C (p.Phe386=) rs1371779126 0.00001
NM_001082486.2(ACD):c.1167C>T (p.Thr389=) rs370757729 0.00001
NM_001082486.2(ACD):c.1205G>A (p.Trp402Ter) rs761750721 0.00001
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser) rs779041176 0.00001
NM_001082486.2(ACD):c.124G>A (p.Val42Ile) rs758513965 0.00001
NM_001082486.2(ACD):c.1262C>G (p.Pro421Arg) rs149418249 0.00001
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp) rs775323156 0.00001
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln) rs1397584716 0.00001
NM_001082486.2(ACD):c.1299-16G>A rs746378955 0.00001
NM_001082486.2(ACD):c.15G>T (p.Gly5=) rs1032620777 0.00001
NM_001082486.2(ACD):c.170C>T (p.Thr57Met) rs1383980242 0.00001
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe) rs368387402 0.00001
NM_001082486.2(ACD):c.186C>T (p.Asp62=) rs998982026 0.00001
NM_001082486.2(ACD):c.242+8G>A rs1402954442 0.00001
NM_001082486.2(ACD):c.261C>A (p.Gly87=) rs752019137 0.00001
NM_001082486.2(ACD):c.337-10A>C rs566079044 0.00001
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys) rs775602659 0.00001
NM_001082486.2(ACD):c.414-5C>A rs372700670 0.00001
NM_001082486.2(ACD):c.486C>T (p.Ser162=) rs777238079 0.00001
NM_001082486.2(ACD):c.494-10_494-9del rs1190418028 0.00001
NM_001082486.2(ACD):c.494-11C>T rs368882788 0.00001
NM_001082486.2(ACD):c.494-3C>G rs1173572864 0.00001
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro) rs1435126124 0.00001
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile) rs144087853 0.00001
NM_001082486.2(ACD):c.590G>T (p.Gly197Val) rs780160617 0.00001
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu) rs1445067662 0.00001
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter) rs1339068886 0.00001
NM_001082486.2(ACD):c.632G>A (p.Arg211Gln) rs146270351 0.00001
NM_001082486.2(ACD):c.644C>T (p.Thr215Met) rs72547495 0.00001
NM_001082486.2(ACD):c.645G>A (p.Thr215=) rs571116752 0.00001
NM_001082486.2(ACD):c.666C>T (p.Val222=) rs374438854 0.00001
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr) rs1039048796 0.00001
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr) rs748280747 0.00001
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr) rs752793753 0.00001
NM_001082486.2(ACD):c.693G>A (p.Glu231=) rs780267725 0.00001
NM_001082486.2(ACD):c.696T>C (p.Asn232=) rs544679646 0.00001
NM_001082486.2(ACD):c.711G>T (p.Leu237=) rs1212715141 0.00001
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu) rs139256582 0.00001
NM_001082486.2(ACD):c.742+4A>G rs1380521995 0.00001
NM_001082486.2(ACD):c.743-4C>A rs1455941784 0.00001
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu) rs754631809 0.00001
NM_001082486.2(ACD):c.781C>G (p.Leu261Val) rs760404492 0.00001
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu) rs1035052101 0.00001
NM_001082486.2(ACD):c.829+10T>C rs1332514211 0.00001
NM_001082486.2(ACD):c.830-12C>T rs748678952 0.00001
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu) rs1370466465 0.00001
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly) rs779705657 0.00001
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg) rs754815475 0.00001
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys) rs200298308 0.00001
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn) rs760978454 0.00001
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn) rs748834837 0.00001
NM_001082486.2(ACD):c.99+3G>A rs1189416936 0.00001
NM_001368809.2(AMPD2):c.-151T>C rs748788622 0.00001
NM_001368809.2(AMPD2):c.-161T>G rs769851350 0.00001
NM_001368809.2(AMPD2):c.-18G>T rs772899120 0.00001
NM_001368809.2(AMPD2):c.-38G>A rs1650212785 0.00001
NM_001368809.2(AMPD2):c.-75G>T rs1025210705 0.00001
NM_001368809.2(AMPD2):c.1011A>G (p.Leu337=) rs1048375978 0.00001
NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val) rs749918422 0.00001
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met) rs751131036 0.00001
NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln) rs771577116 0.00001
NM_001368809.2(AMPD2):c.1571+9C>T rs991003516 0.00001
NM_001368809.2(AMPD2):c.1583G>A (p.Arg528His) rs772541636 0.00001
NM_001368809.2(AMPD2):c.1644C>T (p.Phe548=) rs758218441 0.00001
NM_001368809.2(AMPD2):c.1652C>G (p.Thr551Ser) rs370528133 0.00001
NM_001368809.2(AMPD2):c.1745A>G (p.His582Arg) rs539379857 0.00001
NM_001368809.2(AMPD2):c.1779G>A (p.Ala593=) rs767362652 0.00001
NM_001368809.2(AMPD2):c.177C>T (p.Leu59=) rs753496081 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001368809.2(AMPD2):c.189G>A (p.Thr63=) rs745929697 0.00001
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu) rs761542502 0.00001
NM_001368809.2(AMPD2):c.216C>T (p.Ile72=) rs1351463033 0.00001
NM_001368809.2(AMPD2):c.21C>T (p.Gly7=) rs762011633 0.00001
NM_001368809.2(AMPD2):c.2365C>T (p.Arg789Cys) rs1253216358 0.00001
NM_001368809.2(AMPD2):c.236G>A (p.Arg79His) rs1308492888 0.00001
NM_001368809.2(AMPD2):c.288G>C (p.Glu96Asp) rs745350160 0.00001
NM_001368809.2(AMPD2):c.387A>G (p.Gln129=) rs1399925815 0.00001
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His) rs200750655 0.00001
NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys) rs575582124 0.00001
NM_001368809.2(AMPD2):c.536C>T (p.Pro179Leu) rs567095077 0.00001
NM_001368809.2(AMPD2):c.602T>C (p.Met201Thr) rs748621330 0.00001
NM_001368809.2(AMPD2):c.699C>T (p.Pro233=) rs778185309 0.00001
NM_001368809.2(AMPD2):c.725C>T (p.Pro242Leu) rs768283469 0.00001
NM_001368809.2(AMPD2):c.837C>T (p.Tyr279=) rs1369584235 0.00001
NM_001368809.2(AMPD2):c.856G>A (p.Glu286Lys) rs1255257133 0.00001
NM_001368809.2(AMPD2):c.929C>T (p.Ala310Val) rs771408289 0.00001
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp) rs776868175 0.00001
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655 0.00001
NM_002449.5(MSX2):c.174G>A (p.Pro58=) rs1234123597 0.00001
NM_002449.5(MSX2):c.178A>C (p.Lys60Gln) rs1353231469 0.00001
NM_002449.5(MSX2):c.228G>A (p.Leu76=) rs999180495 0.00001
NM_002449.5(MSX2):c.252C>T (p.His84=) rs531764887 0.00001
NM_002449.5(MSX2):c.428G>A (p.Arg143Gln) rs751060486 0.00001
NM_002449.5(MSX2):c.698C>T (p.Ala233Val) rs138053303 0.00001
NM_002449.5(MSX2):c.750G>A (p.Pro250=) rs760404926 0.00001
NM_002449.5(MSX2):c.756G>A (p.Val252=) rs542254664 0.00001
NM_002449.5(MSX2):c.77C>T (p.Pro26Leu) rs745950729 0.00001
NM_002449.5(MSX2):c.83C>T (p.Pro28Leu) rs1361478485 0.00001
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala) rs1448692172 0.00001
NM_002601.4(PDE6D):c.114del (p.Ser39fs) rs772392692 0.00001
NM_002601.4(PDE6D):c.140-19T>C rs766425103 0.00001
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu) rs1430956453 0.00001
NM_002601.4(PDE6D):c.405C>T (p.Asp135=) rs373459369 0.00001
NM_002601.4(PDE6D):c.50+11G>C rs758184957 0.00001
NM_002601.4(PDE6D):c.50+18G>A rs747869732 0.00001
NM_003384.3(VRK1):c.1011C>A (p.Gly337=) rs547821991 0.00001
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln) rs145241983 0.00001
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs) rs892468166 0.00001
NM_003384.3(VRK1):c.1143G>A (p.Glu381=) rs745392801 0.00001
NM_003384.3(VRK1):c.1159+5G>C rs372052354 0.00001
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys) rs149083861 0.00001
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys) rs766501031 0.00001
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg) rs759541730 0.00001
NM_003384.3(VRK1):c.127A>G (p.Ile43Val) rs777420974 0.00001
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg) rs1372198425 0.00001
NM_003384.3(VRK1):c.144T>C (p.Phe48=) rs1887099492 0.00001
NM_003384.3(VRK1):c.151A>G (p.Ile51Val) rs1237038231 0.00001
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu) rs1474265077 0.00001
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr) rs768889718 0.00001
NM_003384.3(VRK1):c.264A>G (p.Gln88=) rs200368952 0.00001
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) rs772263867 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.279A>T (p.Pro93=) rs765294511 0.00001
NM_003384.3(VRK1):c.286+18C>T rs370335226 0.00001
NM_003384.3(VRK1):c.302G>A (p.Arg101His) rs372646027 0.00001
NM_003384.3(VRK1):c.345G>T (p.Gly115=) rs747216954 0.00001
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg) rs1064796973 0.00001
NM_003384.3(VRK1):c.366T>C (p.Asn122=) rs781389131 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys) rs201936978 0.00001
NM_003384.3(VRK1):c.484-4A>G rs572434615 0.00001
NM_003384.3(VRK1):c.507C>T (p.His169=) rs773548929 0.00001
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr) rs1888016669 0.00001
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe) rs1452833653 0.00001
NM_003384.3(VRK1):c.576+9A>G rs978347799 0.00001
NM_003384.3(VRK1):c.577-4A>G rs1194395636 0.00001
NM_003384.3(VRK1):c.583T>G (p.Leu195Val) rs779770049 0.00001
NM_003384.3(VRK1):c.588A>T (p.Val196=) rs1387075963 0.00001
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp) rs144600646 0.00001
NM_003384.3(VRK1):c.618A>G (p.Pro206=) rs773555796 0.00001
NM_003384.3(VRK1):c.639C>T (p.Tyr213=) rs1217274457 0.00001
NM_003384.3(VRK1):c.66A>G (p.Gln22=) rs146973955 0.00001
NM_003384.3(VRK1):c.699C>T (p.His233=) rs1372315924 0.00001
NM_003384.3(VRK1):c.6del (p.Arg3fs) rs780789145 0.00001
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp) rs1311364931 0.00001
NM_003384.3(VRK1):c.709+10T>C rs1468277298 0.00001
NM_003384.3(VRK1):c.709+9G>A rs1202671679 0.00001
NM_003384.3(VRK1):c.710-14T>C rs1275418589 0.00001
NM_003384.3(VRK1):c.710-9C>A rs757724286 0.00001
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_003384.3(VRK1):c.726T>C (p.Gly242=) rs562273268 0.00001
NM_003384.3(VRK1):c.72A>C (p.Ala24=) rs147698530 0.00001
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln) rs1200170208 0.00001
NM_003384.3(VRK1):c.772C>T (p.His258Tyr) rs761905254 0.00001
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys) rs747692654 0.00001
NM_003384.3(VRK1):c.828T>C (p.Ile276=) rs1334577291 0.00001
NM_003384.3(VRK1):c.82A>G (p.Ile28Val) rs1210199221 0.00001
NM_003384.3(VRK1):c.830+10A>G rs544437757 0.00001
NM_003384.3(VRK1):c.831-12A>G rs1555361641 0.00001
NM_003384.3(VRK1):c.831-18T>A rs746301651 0.00001
NM_003384.3(VRK1):c.846T>C (p.Ile282=) rs759546376 0.00001
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly) rs1449338678 0.00001
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg) rs1310616396 0.00001
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg) rs1340163417 0.00001
NM_003384.3(VRK1):c.889+1G>T rs1482696609 0.00001
NM_003384.3(VRK1):c.889+4G>C rs761286112 0.00001
NM_003384.3(VRK1):c.966C>T (p.Asp322=) rs1302769997 0.00001
NM_003384.3(VRK1):c.99A>C (p.Ala33=) rs1461516851 0.00001
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer) rs752086581 0.00001
NM_005027.4(PIK3R2):c.1042C>A (p.Pro348Thr) rs368358984 0.00001
NM_005027.4(PIK3R2):c.1157A>G (p.His386Arg) rs750258489 0.00001
NM_005027.4(PIK3R2):c.1401C>T (p.Tyr467=) rs1031365601 0.00001
NM_005027.4(PIK3R2):c.1513T>C (p.Tyr505His) rs2043808995 0.00001
NM_005027.4(PIK3R2):c.1543G>A (p.Glu515Lys) rs765672206 0.00001
NM_005027.4(PIK3R2):c.1559+10G>A rs562886046 0.00001
NM_005027.4(PIK3R2):c.1640G>A (p.Arg547Gln) rs200781840 0.00001
NM_005027.4(PIK3R2):c.1974C>T (p.Ser658=) rs750813850 0.00001
NM_005027.4(PIK3R2):c.2120C>T (p.Ala707Val) rs772782368 0.00001
NM_005027.4(PIK3R2):c.2134C>T (p.Leu712=) rs780181859 0.00001
NM_005027.4(PIK3R2):c.2171C>T (p.Pro724Leu) rs1239460949 0.00001
NM_005027.4(PIK3R2):c.311C>A (p.Ala104Asp) rs770694944 0.00001
NM_005027.4(PIK3R2):c.36G>A (p.Leu12=) rs991022925 0.00001
NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro) rs920139065 0.00001
NM_005027.4(PIK3R2):c.467-11T>C rs746464481 0.00001
NM_005027.4(PIK3R2):c.553C>G (p.Leu185Val) rs1016301486 0.00001
NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln) rs754693011 0.00001
NM_005027.4(PIK3R2):c.586C>T (p.Arg196Trp) rs770193876 0.00001
NM_005027.4(PIK3R2):c.598+20C>T rs1287594814 0.00001
NM_005027.4(PIK3R2):c.672C>T (p.Phe224=) rs977691358 0.00001
NM_005465.7(AKT3):c.1044C>T (p.Asn348=) rs199771220 0.00001
NM_005465.7(AKT3):c.1164-7C>T rs187627364 0.00001
NM_005465.7(AKT3):c.1275A>G (p.Gln425=) rs143949494 0.00001
NM_005465.7(AKT3):c.172+19T>C rs746689777 0.00001
NM_005465.7(AKT3):c.284+10T>C rs371954528 0.00001
NM_005465.7(AKT3):c.409A>G (p.Thr137Ala) rs1351256745 0.00001
NM_005465.7(AKT3):c.410C>T (p.Thr137Ile) rs202064755 0.00001
NM_005465.7(AKT3):c.417T>C (p.His139=) rs1283519302 0.00001
NM_005465.7(AKT3):c.47-10C>T rs751741670 0.00001
NM_005465.7(AKT3):c.562-6T>C rs1277089927 0.00001
NM_005465.7(AKT3):c.726G>A (p.Val242=) rs781331863 0.00001
NM_005465.7(AKT3):c.729C>T (p.Phe243=) rs1340146435 0.00001
NM_014846.4(WASHC5):c.1211G>A (p.Arg404Gln) rs753133551 0.00001
NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg) rs1328488239 0.00001
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro) rs766713240 0.00001
NM_014846.4(WASHC5):c.1408+4A>C rs780340651 0.00001
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg) rs1357562835 0.00001
NM_014846.4(WASHC5):c.1521+10C>T rs760233617 0.00001
NM_014846.4(WASHC5):c.1611C>G (p.Thr537=) rs1375065582 0.00001
NM_014846.4(WASHC5):c.1650C>T (p.Ile550=) rs780912744 0.00001
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu) rs751591590 0.00001
NM_014846.4(WASHC5):c.1688+10G>A rs200755877 0.00001
NM_014846.4(WASHC5):c.1728A>G (p.Pro576=) rs767965256 0.00001
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=) rs1044612540 0.00001
NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter) rs762401591 0.00001
NM_014846.4(WASHC5):c.2032C>T (p.His678Tyr) rs1403229183 0.00001
NM_014846.4(WASHC5):c.2098-6A>G rs984555140 0.00001
NM_014846.4(WASHC5):c.2199+14A>G rs754889043 0.00001
NM_014846.4(WASHC5):c.2379+8A>T rs1198647443 0.00001
NM_014846.4(WASHC5):c.2505-1G>C rs953586472 0.00001
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser) rs1289915533 0.00001
NM_014846.4(WASHC5):c.2769C>T (p.Val923=) rs545318648 0.00001
NM_014846.4(WASHC5):c.2846T>C (p.Met949Thr) rs1182525812 0.00001
NM_014846.4(WASHC5):c.2955-10C>G rs1388469388 0.00001
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His) rs761500521 0.00001
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala) rs775752911 0.00001
NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val) rs1184928685 0.00001
NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr) rs375664674 0.00001
NM_014846.4(WASHC5):c.348C>T (p.Leu116=) rs1817292048 0.00001
NM_014846.4(WASHC5):c.435A>G (p.Leu145=) rs145842027 0.00001
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) rs1462319941 0.00001
NM_014846.4(WASHC5):c.518+12C>T rs776771436 0.00001
NM_014846.4(WASHC5):c.654C>T (p.Asn218=) rs144085283 0.00001
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) rs754463353 0.00001
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) rs765982075 0.00001
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser) rs1019440298 0.00001
NM_014846.4(WASHC5):c.864+5G>C rs772529893 0.00001
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606 0.00001
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) rs1435894101 0.00001
NM_014846.4(WASHC5):c.975A>G (p.Glu325=) rs773768832 0.00001
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His) rs1267547707 0.00001
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala) rs768480385 0.00001
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly) rs745968146 0.00001
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe) rs931265396 0.00001
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) rs768285987 0.00001
NM_015631.6(TCTN3):c.119G>A (p.Arg40Gln) rs1314333060 0.00001
NM_015631.6(TCTN3):c.1203+1G>C rs1221992171 0.00001
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg) rs1194762228 0.00001
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429 0.00001
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val) rs142986132 0.00001
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg) rs773447066 0.00001
NM_015631.6(TCTN3):c.1298+17G>A rs776775920 0.00001
NM_015631.6(TCTN3):c.1299-19C>T rs751339831 0.00001
NM_015631.6(TCTN3):c.1338T>A (p.Ile446=) rs2097944339 0.00001
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser) rs775556315 0.00001
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser) rs2097942068 0.00001
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser) rs1273735180 0.00001
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile) rs767733835 0.00001
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu) rs756561177 0.00001
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter) rs771745084 0.00001
NM_015631.6(TCTN3):c.1590+15A>G rs781078051 0.00001
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val) rs747933488 0.00001
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del) rs891059654 0.00001
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile) rs768523448 0.00001
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe) rs746968875 0.00001
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr) rs999127884 0.00001
NM_015631.6(TCTN3):c.222G>A (p.Ser74=) rs913092788 0.00001
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr) rs1391185443 0.00001
NM_015631.6(TCTN3):c.257-11T>G rs1201207763 0.00001
NM_015631.6(TCTN3):c.324C>T (p.Asp108=) rs566756038 0.00001
NM_015631.6(TCTN3):c.381-3C>T rs546476903 0.00001
NM_015631.6(TCTN3):c.499+11A>G rs1428675552 0.00001
NM_015631.6(TCTN3):c.499+18G>A rs1386147381 0.00001
NM_015631.6(TCTN3):c.507A>G (p.Leu169=) rs1566075059 0.00001
NM_015631.6(TCTN3):c.531G>A (p.Lys177=) rs199774247 0.00001
NM_015631.6(TCTN3):c.549C>T (p.Phe183=) rs1403001274 0.00001
NM_015631.6(TCTN3):c.606A>G (p.Gln202=) rs777642622 0.00001
NM_015631.6(TCTN3):c.627+18G>A rs763302632 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_015631.6(TCTN3):c.627G>A (p.Arg209=) rs752918067 0.00001
NM_015631.6(TCTN3):c.705T>C (p.Ala235=) rs1251898935 0.00001
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala) rs780438906 0.00001
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) rs762720849 0.00001
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969 0.00001
NM_015631.6(TCTN3):c.879G>C (p.Gln293His) rs147928670 0.00001
NM_015631.6(TCTN3):c.883A>G (p.Met295Val) rs746046233 0.00001
NM_015631.6(TCTN3):c.889-15T>G rs760597184 0.00001
NM_015631.6(TCTN3):c.889-9C>T rs924437747 0.00001
NM_015631.6(TCTN3):c.894G>C (p.Gln298His) rs1464905299 0.00001
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys) rs971089853 0.00001
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter) rs793888508 0.00001
NM_015631.6(TCTN3):c.945C>T (p.Asn315=) rs763364836 0.00001
NM_015631.6(TCTN3):c.9C>A (p.Thr3=) rs1471002377 0.00001
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr) rs1325914775 0.00001
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016042.4(EXOSC3):c.336A>G (p.Val112=) rs1459576809 0.00001
NM_016042.4(EXOSC3):c.405G>T (p.Gly135=) rs1828647334 0.00001
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln) rs748839685 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016042.4(EXOSC3):c.813A>G (p.Arg271=) rs373942170 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016464.5(TMEM138):c.129-18T>A rs1181378192 0.00001
NM_016464.5(TMEM138):c.129-20A>T rs1477684645 0.00001
NM_016464.5(TMEM138):c.129-8G>T rs1438561210 0.00001
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp) rs766349558 0.00001
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr) rs767361822 0.00001
NM_016464.5(TMEM138):c.276C>T (p.Ser92=) rs756828257 0.00001
NM_016464.5(TMEM138):c.300+17G>A rs1858147311 0.00001
NM_016464.5(TMEM138):c.301-9C>A rs764884921 0.00001
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843 0.00001
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser) rs934639615 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser) rs775913576 0.00001
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter) rs146264153 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln) rs782089459 0.00001
NM_018718.3(CEP41):c.1053C>T (p.Gly351=) rs782191360 0.00001
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser) rs782590600 0.00001
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val) rs781832103 0.00001
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro) rs587780311 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_018718.3(CEP41):c.145+3A>G rs782008140 0.00001
NM_018718.3(CEP41):c.145+5G>A rs1413177096 0.00001
NM_018718.3(CEP41):c.146-18T>C rs202065857 0.00001
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu) rs1554419921 0.00001
NM_018718.3(CEP41):c.164A>T (p.Asp55Val) rs782776244 0.00001
NM_018718.3(CEP41):c.165T>C (p.Asp55=) rs782085186 0.00001
NM_018718.3(CEP41):c.186A>G (p.Lys62=) rs1797202624 0.00001
NM_018718.3(CEP41):c.200C>T (p.Ala67Val) rs782426353 0.00001
NM_018718.3(CEP41):c.208-17A>G rs1374383852 0.00001
NM_018718.3(CEP41):c.278-1G>A rs1796956272 0.00001
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly) rs1554417870 0.00001
NM_018718.3(CEP41):c.308C>T (p.Ala103Val) rs369687508 0.00001
NM_018718.3(CEP41):c.384C>T (p.Asn128=) rs374535389 0.00001
NM_018718.3(CEP41):c.423-8A>G rs1796893817 0.00001
NM_018718.3(CEP41):c.565A>G (p.Ile189Val) rs782591147 0.00001
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys) rs782466306 0.00001
NM_018718.3(CEP41):c.643-12T>C rs782521409 0.00001
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_018718.3(CEP41):c.696C>T (p.Ala232=) rs1796819118 0.00001
NM_018718.3(CEP41):c.705G>A (p.Ala235=) rs149052906 0.00001
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys) rs1554416667 0.00001
NM_018718.3(CEP41):c.741C>T (p.Leu247=) rs781822221 0.00001
NM_018718.3(CEP41):c.753C>T (p.Ser251=) rs200612684 0.00001
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu) rs782815662 0.00001
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp) rs782729874 0.00001
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys) rs782435349 0.00001
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu) rs782474335 0.00001
NM_018718.3(CEP41):c.973+11T>C rs781847285 0.00001
NM_018718.3(CEP41):c.973+15C>T rs979158941 0.00001
NM_018718.3(CEP41):c.974-8C>T rs367692258 0.00001
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004 0.00001
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) rs759682384 0.00001
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp) rs758926583 0.00001
NM_022836.4(DCLRE1B):c.12C>T (p.Val4=) rs34713392 0.00001
NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=) rs768672121 0.00001
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp) rs774397708 0.00001
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val) rs781509316 0.00001
NM_022836.4(DCLRE1B):c.1455C>T (p.His485=) rs1558110685 0.00001
NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=) rs760666458 0.00001
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg) rs748342283 0.00001
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) rs770692934 0.00001
NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=) rs762552451 0.00001
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg) rs1439653012 0.00001
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe) rs758475213 0.00001
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg) rs375674908 0.00001
NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=) rs1421095735 0.00001
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln) rs1401066315 0.00001
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met) rs745991382 0.00001
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val) rs1478635543 0.00001
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile) rs921843370 0.00001
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln) rs1216262296 0.00001
NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=) rs771842799 0.00001
NM_022836.4(DCLRE1B):c.99C>T (p.His33=) rs747335906 0.00001
NC_000001.10:g.(?_108679275)_(111674176_?)del
NC_000001.10:g.(?_110145976)_(110173774_?)dup
NC_000001.10:g.(?_243652296)_(243859038_?)del
NC_000001.10:g.(?_243663038)_(243668656_?)dup
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202466462)_(202508123_?)del
NC_000002.11:g.(?_202488978)_(202508123_?)dup
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000002.11:g.(?_202501451)_(202633608_?)del
NC_000002.11:g.(?_202508062)_(202508123_?)del
NC_000002.11:g.(?_231033840)_(234978657_?)dup
NC_000002.11:g.(?_232597662)_(232597763_?)del
NC_000002.11:g.(?_232597662)_(232597763_?)dup
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000002.11:g.(?_232645755)_(232645824_?)del
NC_000002.12:g.(?_201618900)_(201647825_?)del
NC_000005.9:g.(?_174151663)_(174156586_?)dup
NC_000008.10:g.(?_126036859)_(126379127_?)dup
NC_000008.10:g.(?_126049459)_(126075913_?)del
NC_000008.10:g.(?_126079753)_(126096155_?)del
NC_000008.11:g.(?_125024607)_(125044104_?)del
NC_000010.10:g.(?_97440209)_(97440386_?)del
NC_000010.10:g.(?_97442388)_(97516032_?)dup
NC_000011.9:g.(?_61133497)_(61133708_?)del
NC_000014.8:g.(?_97299809)_(97327092_?)del
NC_000014.8:g.(?_97319158)_(97322933_?)del
NC_000014.8:g.(?_97326874)_(97327092_?)del
NC_000014.9:g.(?_96810669)_(96860745_?)del
NC_000014.9:g.(?_96846075)_(96847364_?)del
NC_000014.9:g.(?_96846085)_(96847354_?)del
NC_000014.9:g.(?_96856120)_(96860745_?)del
NC_000016.10:g.(?_75539974)_(75545515_?)del
NC_000016.10:g.67660263_67660288del
NC_000016.10:g.67660263_67660288dup rs1339425052
NC_000016.10:g.67660277C>G rs776666988
NC_000016.10:g.67660284T>C rs2142976427
NC_000016.10:g.67660292_67660309del rs1185708088
NC_000016.10:g.67660300del rs2142976499
NC_000016.10:g.67660322_67660356del rs2142976594
NC_000016.10:g.67660324AGG[2] rs1198905942
NC_000016.10:g.67660332_67660346dup rs2142976632
NC_000016.10:g.67660358G>A rs1347436636
NC_000016.10:g.67660400C>G rs2052987449
NC_000016.10:g.67660407C>T rs745972649
NC_000016.10:g.67660407_67660419dup rs757084527
NC_000016.10:g.67660478T>C rs1308323945
NC_000016.9:g.(?_65821800)_(72146396_?)del
NC_000016.9:g.(?_75490611)_(75576599_?)del
NC_000016.9:g.(?_75512539)_(75576601_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75574092_?)del
NC_000016.9:g.(?_75573892)_(75575373_?)del
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75576601_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)del
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NC_000016.9:g.(?_75573892)_(75579872_?)dup
NC_000016.9:g.(?_75573892)_(75690509_?)del
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NC_000016.9:g.(?_75579704)_(75590169_?)dup
NC_000016.9:g.(?_75589682)_(75590169_?)del
NC_000016.9:g.(?_75589682)_(75690509_?)dup
NC_000019.10:g.(?_18167110)_(18169314_?)dup
NC_000019.9:g.(?_17927663)_(19312528_?)dup
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
NM_001044385.3(TMEM237):c.1038-13T>C
NM_001044385.3(TMEM237):c.1038-16G>A
NM_001044385.3(TMEM237):c.1038-18G>C rs1462537932
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu) rs1957756642
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu) rs138509553
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala) rs1957756375
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn) rs1362249907
NM_001044385.3(TMEM237):c.1159+15A>C
NM_001044385.3(TMEM237):c.1159+17del rs766664373
NM_001044385.3(TMEM237):c.1159+17dup
NM_001044385.3(TMEM237):c.1159+3A>G rs754717992
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser) rs1957737864
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1]) rs765428296
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs) rs761770686
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser) rs1376540567
NM_001044385.3(TMEM237):c.136+19T>C rs2105903480
NM_001044385.3(TMEM237):c.136+20T>C
NM_001044385.3(TMEM237):c.137-14_137-13del
NM_001044385.3(TMEM237):c.137-17A>G
NM_001044385.3(TMEM237):c.137-19C>G rs369430368
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu) rs562984785
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His) rs768568104
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=) rs2105902384
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter) rs902145121
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=) rs2105902371
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=) rs2105902357
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser) rs376226585
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val) rs1369476710
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr) rs367728637
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln) rs778373105
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln) rs2105906100
NM_001044385.3(TMEM237):c.274+14C>G
NM_001044385.3(TMEM237):c.274+18G>C
NM_001044385.3(TMEM237):c.274+9A>G
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile) rs1324625933
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn) rs1687222402
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter) rs2105900861
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys) rs1319201699
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter) rs565778005
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr) rs2105900828
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
NM_001044385.3(TMEM237):c.395+16T>C
NM_001044385.3(TMEM237):c.396-15A>G
NM_001044385.3(TMEM237):c.396-2A>G
NM_001044385.3(TMEM237):c.396-4A>G
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=) rs1253365223
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=) rs2105900286
NM_001044385.3(TMEM237):c.42+16C>G rs2105906044
NM_001044385.3(TMEM237):c.42+18C>T
NM_001044385.3(TMEM237):c.42+6C>T
NM_001044385.3(TMEM237):c.42+7G>T
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr) rs2105900282
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs) rs1957813141
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met) rs2105900253
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser) rs772074875
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=) rs2105900225
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=) rs1433478535
NM_001044385.3(TMEM237):c.553+2dup rs1957812399
NM_001044385.3(TMEM237):c.553+3dup rs1957812369
NM_001044385.3(TMEM237):c.554-3dup rs778807445
NM_001044385.3(TMEM237):c.554-5C>T
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu) rs1202199961
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs) rs756970007
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs) rs2105899220
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile) rs767769973
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe) rs2105899190
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu) rs769861092
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=) rs2105899171
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169
NM_001044385.3(TMEM237):c.677+18A>G
NM_001044385.3(TMEM237):c.678-13C>T rs1957789089
NM_001044385.3(TMEM237):c.678-15C>A
NM_001044385.3(TMEM237):c.678-20_678-17del rs754336127
NM_001044385.3(TMEM237):c.678-6A>G
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg) rs1163877651
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
NM_001044385.3(TMEM237):c.69G>T (p.Val23=) rs2105904439
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser) rs763431945
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
NM_001044385.3(TMEM237):c.74+12_74+14del
NM_001044385.3(TMEM237):c.747T>A (p.Val249=) rs1957787811
NM_001044385.3(TMEM237):c.75-19G>A
NM_001044385.3(TMEM237):c.75-5G>A
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys) rs2105898977
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro) rs992818026
NM_001044385.3(TMEM237):c.79+20A>T rs745908076
NM_001044385.3(TMEM237):c.79+5G>C
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.80-20C>T rs753443048
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=) rs2105898943
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile) rs1015591586
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr) rs1343901400
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=) rs2105898925
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
NM_001044385.3(TMEM237):c.869+11T>C
NM_001044385.3(TMEM237):c.869+15T>C
NM_001044385.3(TMEM237):c.869+16C>T rs980158363
NM_001044385.3(TMEM237):c.869+1del rs1311551510
NM_001044385.3(TMEM237):c.869+8C>G
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.870-4C>G
NM_001044385.3(TMEM237):c.870-8T>G rs2105898458
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=) rs2105898446
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter) rs768528861
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly) rs2105898418
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg) rs1380123430
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro) rs2105898403
NM_001044385.3(TMEM237):c.943+15dup
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp) rs1043186259
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val) rs2105898068
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg) rs1957768968
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg) rs1057148787
NM_001077418.2(TMEM231):c.-53A>G rs1176007249
NM_001077418.2(TMEM231):c.-55C>T rs2151711350
NM_001077418.2(TMEM231):c.-59G>A
NM_001077418.2(TMEM231):c.-61T>G
NM_001077418.3(TMEM231):c.-16C>A
NM_001077418.3(TMEM231):c.-17G>T rs768513169
NM_001077418.3(TMEM231):c.-22G>C
NM_001077418.3(TMEM231):c.-25C>T
NM_001077418.3(TMEM231):c.-30C>A rs2080810566
NM_001077418.3(TMEM231):c.-37G>A
NM_001077418.3(TMEM231):c.-38T>C rs758946916
NM_001077418.3(TMEM231):c.-41A>C rs765256905
NM_001077418.3(TMEM231):c.-8C>T rs780752063
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
NM_001077418.3(TMEM231):c.139+12C>T rs937269706
NM_001077418.3(TMEM231):c.139+14G>A
NM_001077418.3(TMEM231):c.139+1del rs2151711054
NM_001077418.3(TMEM231):c.139+28G>A rs370005084
NM_001077418.3(TMEM231):c.139+39G>C rs1448302846
NM_001077418.3(TMEM231):c.139+39_139+40del
NM_001077418.3(TMEM231):c.139+44G>T
NM_001077418.3(TMEM231):c.139+48G>T rs1234390023
NM_001077418.3(TMEM231):c.139+9G>A
NM_001077418.3(TMEM231):c.140-10T>C rs2151710900
NM_001077418.3(TMEM231):c.140-29C>T
NM_001077418.3(TMEM231):c.140-2A>G rs1216670609
NM_001077418.3(TMEM231):c.140-30A>C rs2080806593
NM_001077418.3(TMEM231):c.140-39G>A
NM_001077418.3(TMEM231):c.140-3C>G rs776673877
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.140-5C>T
NM_001077418.3(TMEM231):c.140-8dup
NM_001077418.3(TMEM231):c.140-9_140-8del
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu) rs2151710882
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys) rs772102451
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=) rs781250253
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp) rs1350319069
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val) rs2151710764
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val) rs2080804915
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn) rs753709447
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=) rs2151710642
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile) rs2151710524
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
NM_001077418.3(TMEM231):c.309+12C>T
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.310-15G>C rs2151703201
NM_001077418.3(TMEM231):c.310-18C>T
NM_001077418.3(TMEM231):c.310-4C>G rs2080685365
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly) rs1415195367
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
NM_001077418.3(TMEM231):c.354dup (p.His119fs) rs2151703115
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys) rs775329522
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg) rs1202833405
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
NM_001077418.3(TMEM231):c.396T>C (p.Val132=) rs1187444555
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=) rs2080683492
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
NM_001077418.3(TMEM231):c.438+13G>A rs780849828
NM_001077418.3(TMEM231):c.438+13G>T rs780849828
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.438+3G>A rs1183368030
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
NM_001077418.3(TMEM231):c.439-11A>G
NM_001077418.3(TMEM231):c.439-20G>T
NM_001077418.3(TMEM231):c.439-33_538del
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg) rs2080678228
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu) rs549400559
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr) rs903354438
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=) rs1335128278
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter) rs2151702587
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe) rs1280264089
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu) rs2151702535
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
NM_001077418.3(TMEM231):c.582+17T>G
NM_001077418.3(TMEM231):c.582+8C>T
NM_001077418.3(TMEM231):c.583-1_583delinsAG rs2151700036
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
NM_001077418.3(TMEM231):c.583-3C>G
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg) rs2080639506
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu) rs397514753
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001077418.3(TMEM231):c.665-13G>C
NM_001077418.3(TMEM231):c.665-19G>T rs200581224
NM_001077418.3(TMEM231):c.665-19_665-13del
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val) rs1567441268
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr) rs1344067825
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr) rs139236786
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu) rs1277858041
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val) rs951457866
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+20G>A
NM_001077418.3(TMEM231):c.770+3A>G rs2080625882
NM_001077418.3(TMEM231):c.770+6C>G
NM_001077418.3(TMEM231):c.771-17T>G
NM_001077418.3(TMEM231):c.771-4A>G
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His) rs758048238
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu) rs2151697774
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys) rs797044954
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=) rs754352443
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) rs2080604225
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr) rs2151697600
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=) rs1362332031
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
NM_001082486.1(ACD):c.101G>T (p.Arg34Leu)
NM_001082486.1(ACD):c.102A>G (p.Arg34=)
NM_001082486.1(ACD):c.103G>A (p.Ala35Thr) rs772377460
NM_001082486.1(ACD):c.106G>A (p.Gly36Arg) rs1452825225
NM_001082486.1(ACD):c.109C>T (p.Arg37Cys) rs748543340
NM_001082486.1(ACD):c.115C>T (p.Arg39Cys)
NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)
NM_001082486.1(ACD):c.119C>T (p.Ala40Val) rs374417270
NM_001082486.1(ACD):c.121C>A (p.Gln41Lys)
NM_001082486.1(ACD):c.123G>A (p.Gln41=) rs974748354
NM_001082486.1(ACD):c.128G>A (p.Arg43Gln) rs767099534
NM_001082486.1(ACD):c.132T>C (p.Gly44=)
NM_001082486.1(ACD):c.135A>T (p.Val45=) rs1567643005
NM_001082486.1(ACD):c.138T>C (p.Arg46=)
NM_001082486.1(ACD):c.149T>G (p.Leu50Arg)
NM_001082486.1(ACD):c.150C>A (p.Leu50=)
NM_001082486.1(ACD):c.153C>T (p.Leu51=)
NM_001082486.1(ACD):c.157C>A (p.Arg53=) rs773291286
NM_001082486.1(ACD):c.157C>T (p.Arg53Trp) rs773291286
NM_001082486.1(ACD):c.176A>G (p.Glu59Gly)
NM_001082486.1(ACD):c.179T>C (p.Leu60Pro)
NM_001082486.1(ACD):c.182C>T (p.Pro61Leu)
NM_001082486.1(ACD):c.183T>C (p.Pro61=) rs2052981802
NM_001082486.1(ACD):c.187C>T (p.Pro63Ser) rs2142976460
NM_001082486.1(ACD):c.18G>C (p.Gln6His)
NM_001082486.1(ACD):c.201G>C (p.Gly67=)
NM_001082486.1(ACD):c.208G>A (p.Ala70Thr) rs763682845
NM_001082486.1(ACD):c.208G>T (p.Ala70Ser)
NM_001082486.1(ACD):c.217G>A (p.Gly73Arg)
NM_001082486.1(ACD):c.35G>C (p.Arg12Thr)
NM_001082486.1(ACD):c.37G>A (p.Val13Ile) rs781424953
NM_001082486.1(ACD):c.56G>A (p.Arg19His)
NM_001082486.1(ACD):c.60A>C (p.Ala20=)
NM_001082486.1(ACD):c.62C>T (p.Pro21Leu)
NM_001082486.1(ACD):c.65C>T (p.Ala22Val)
NM_001082486.1(ACD):c.66G>C (p.Ala22=) rs766076324
NM_001082486.1(ACD):c.69G>A (p.Gly23=) rs554258142
NM_001082486.1(ACD):c.69G>C (p.Gly23=)
NM_001082486.1(ACD):c.74C>G (p.Thr25Ser) rs1237579301
NM_001082486.1(ACD):c.78C>A (p.Ser26Arg)
NM_001082486.1(ACD):c.7G>C (p.Gly3Arg)
NM_001082486.1(ACD):c.87G>A (p.Leu29=) rs1295714510
NM_001082486.1(ACD):c.88C>T (p.His30Tyr) rs376813282
NM_001082486.1(ACD):c.90C>T (p.His30=) rs2052986707
NM_001082486.1(ACD):c.94G>C (p.Gly32Arg) rs761628896
NM_001082486.1(ACD):c.94G>T (p.Gly32Cys) rs761628896
NM_001082486.1(ACD):c.95G>A (p.Gly32Asp) rs774085628
NM_001082486.1(ACD):c.95G>T (p.Gly32Val)
NM_001082486.1(ACD):c.96C>A (p.Gly32=) rs574891736
NM_001082486.1(ACD):c.96C>G (p.Gly32=) rs574891736
NM_001082486.1(ACD):c.96C>T (p.Gly32=)
NM_001082486.2(ACD):c.-14G>T
NM_001082486.2(ACD):c.-16G>C
NM_001082486.2(ACD):c.-19G>T
NM_001082486.2(ACD):c.-23A>T rs746445437
NM_001082486.2(ACD):c.-26T>G
NM_001082486.2(ACD):c.-29C>A
NM_001082486.2(ACD):c.-29C>G rs534010648
NM_001082486.2(ACD):c.-29C>T
NM_001082486.2(ACD):c.-30C>T
NM_001082486.2(ACD):c.-31C>A rs775903443
NM_001082486.2(ACD):c.-31C>T
NM_001082486.2(ACD):c.-34G>C
NM_001082486.2(ACD):c.-36C>A rs762184098
NM_001082486.2(ACD):c.-36C>G rs762184098
NM_001082486.2(ACD):c.-36C>T
NM_001082486.2(ACD):c.-38A>T
NM_001082486.2(ACD):c.-8C>G rs766360608
NM_001082486.2(ACD):c.-8C>T rs766360608
NM_001082486.2(ACD):c.-9G>A
NM_001082486.2(ACD):c.-9G>C rs377247506
NM_001082486.2(ACD):c.-9G>T rs377247506
NM_001082486.2(ACD):c.100-12C>T
NM_001082486.2(ACD):c.100-15G>A
NM_001082486.2(ACD):c.100-15G>C
NM_001082486.2(ACD):c.100-15G>T rs747553547
NM_001082486.2(ACD):c.100-16C>T
NM_001082486.2(ACD):c.100-19C>T
NM_001082486.2(ACD):c.100-1G>A
NM_001082486.2(ACD):c.100-6C>T rs1597774112
NM_001082486.2(ACD):c.100-9C>T
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys) rs762262197
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)
NM_001082486.2(ACD):c.1024C>T (p.Gln342Ter) rs1316577809
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg) rs1567640107
NM_001082486.2(ACD):c.1026G>A (p.Gln342=)
NM_001082486.2(ACD):c.1035T>C (p.Thr345=)
NM_001082486.2(ACD):c.1040del (p.Ser347fs)
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu) rs2142967912
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys)
NM_001082486.2(ACD):c.1056C>T (p.Ser352=)
NM_001082486.2(ACD):c.1058A>G (p.His353Arg)
NM_001082486.2(ACD):c.1071A>C (p.Pro357=)
NM_001082486.2(ACD):c.1074C>T (p.His358=)
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg)
NM_001082486.2(ACD):c.1080T>C (p.Ala360=)
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)
NM_001082486.2(ACD):c.1089C>T (p.Thr363=)
NM_001082486.2(ACD):c.1102C>T (p.Pro368Ser) rs143990276
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)
NM_001082486.2(ACD):c.1108C>T (p.Leu370=)
NM_001082486.2(ACD):c.1119G>A (p.Lys373=)
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile)
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val) rs2142967624
NM_001082486.2(ACD):c.1137C>T (p.Pro379=)
NM_001082486.2(ACD):c.114C>T (p.Ala38=) rs756189227
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter) rs2052908546
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)
NM_001082486.2(ACD):c.1206+10G>C
NM_001082486.2(ACD):c.1206+10del rs2052907559
NM_001082486.2(ACD):c.1206+18G>A
NM_001082486.2(ACD):c.1206+4A>G rs2142967211
NM_001082486.2(ACD):c.1206+8T>C
NM_001082486.2(ACD):c.1207-18A>G
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu) rs201907421
NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)
NM_001082486.2(ACD):c.1224T>A (p.His408Gln)
NM_001082486.2(ACD):c.1224T>C (p.His408=)
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val) rs2052901178
NM_001082486.2(ACD):c.123G>C (p.Ala41=)
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys) rs1476903915
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn) rs1281121095
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)
NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu) rs149418249
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)
NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)
NM_001082486.2(ACD):c.1293T>C (p.Ala431=) rs1597767407
NM_001082486.2(ACD):c.1297A>C (p.Arg433=) rs1407657316
NM_001082486.2(ACD):c.1298+17G>A
NM_001082486.2(ACD):c.1298+1G>C rs2052898891
NM_001082486.2(ACD):c.1298+9C>T rs776494951
NM_001082486.2(ACD):c.1299-14T>C rs1413270785
NM_001082486.2(ACD):c.1299-19A>G
NM_001082486.2(ACD):c.1299-4C>T rs1597767023
NM_001082486.2(ACD):c.1299G>A (p.Arg433=)
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser) rs201926842
NM_001082486.2(ACD):c.1332C>T (p.His444=)
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)
NM_001082486.2(ACD):c.1356G>A (p.Gly452=)
NM_001082486.2(ACD):c.1359T>C (p.Ser453=)
NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs) rs772312742
NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)
NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu) rs2142965523
NM_001082486.2(ACD):c.1371G>A (p.Pro457=)
NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)
NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)
NM_001082486.2(ACD):c.139C>G (p.His47Asp) rs1057522813
NM_001082486.2(ACD):c.140A>G (p.His47Arg)
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser)
NM_001082486.2(ACD):c.150T>C (p.Asp50=)
NM_001082486.2(ACD):c.164G>T (p.Gly55Val)
NM_001082486.2(ACD):c.174G>A (p.Leu58=) rs768395580
NM_001082486.2(ACD):c.174G>T (p.Leu58=)
NM_001082486.2(ACD):c.184G>A (p.Asp62Asn)
NM_001082486.2(ACD):c.188G>C (p.Gly63Ala)
NM_001082486.2(ACD):c.189G>C (p.Gly63=)
NM_001082486.2(ACD):c.18G>A (p.Arg6=) rs779383442
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser) rs779383442
NM_001082486.2(ACD):c.192C>T (p.Thr64=)
NM_001082486.2(ACD):c.194A>G (p.His65Arg)
NM_001082486.2(ACD):c.201C>T (p.Val67=) rs1428575354
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser) rs748312961
NM_001082486.2(ACD):c.207C>T (p.Cys69=)
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)
NM_001082486.2(ACD):c.242+5G>A
NM_001082486.2(ACD):c.243-13C>T
NM_001082486.2(ACD):c.243-14C>G rs531965174
NM_001082486.2(ACD):c.243-14C>T
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001082486.2(ACD):c.258C>T (p.Phe86=)
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
NM_001082486.2(ACD):c.267C>G (p.Arg89=)
NM_001082486.2(ACD):c.270G>T (p.Gly90=)
NM_001082486.2(ACD):c.283C>T (p.Leu95=) rs2142974673
NM_001082486.2(ACD):c.28C>A (p.Arg10=)
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp)
NM_001082486.2(ACD):c.290T>C (p.Leu97Pro)
NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly)
NM_001082486.2(ACD):c.303C>T (p.Cys101=) rs2142974629
NM_001082486.2(ACD):c.304G>C (p.Gly102Arg)
NM_001082486.2(ACD):c.307G>T (p.Val103Phe)
NM_001082486.2(ACD):c.316C>T (p.Gln106Ter) rs2142974596
NM_001082486.2(ACD):c.326A>T (p.Glu109Val)
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu)
NM_001082486.2(ACD):c.330C>A (p.Gly110=) rs1214995325
NM_001082486.2(ACD):c.330C>T (p.Gly110=)
NM_001082486.2(ACD):c.332G>A (p.Gly111Asp) rs2142974572
NM_001082486.2(ACD):c.334G>A (p.Ala112Thr)
NM_001082486.2(ACD):c.336+12G>A
NM_001082486.2(ACD):c.336+8G>A
NM_001082486.2(ACD):c.336+8G>T
NM_001082486.2(ACD):c.337-12G>A rs1021416366
NM_001082486.2(ACD):c.337-16C>G
NM_001082486.2(ACD):c.337-17C>T rs1186068061
NM_001082486.2(ACD):c.337-20T>G rs1567641944
NM_001082486.2(ACD):c.337-5_337-3del
NM_001082486.2(ACD):c.340G>T (p.Ala114Ser) rs377701284
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln) rs141113896
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe)
NM_001082486.2(ACD):c.357G>C (p.Gln119His) rs2052958022
NM_001082486.2(ACD):c.359dup (p.Asp121fs)
NM_001082486.2(ACD):c.361G>C (p.Asp121His)
NM_001082486.2(ACD):c.36G>A (p.Trp12Ter) rs1244950221
NM_001082486.2(ACD):c.394C>A (p.Arg132=) rs2052957232
NM_001082486.2(ACD):c.405G>A (p.Val135=)
NM_001082486.2(ACD):c.413+11C>T
NM_001082486.2(ACD):c.413+1G>C
NM_001082486.2(ACD):c.413+7G>A rs1017802690
NM_001082486.2(ACD):c.413+9T>A
NM_001082486.2(ACD):c.414-16C>A rs1363142172
NM_001082486.2(ACD):c.414-17C>G rs1291861643
NM_001082486.2(ACD):c.414-7T>C
NM_001082486.2(ACD):c.414-9T>G
NM_001082486.2(ACD):c.425T>G (p.Leu142Ter) rs2142973399
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr)
NM_001082486.2(ACD):c.430G>A (p.Val144Ile)
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln) rs2142976000
NM_001082486.2(ACD):c.443T>C (p.Leu148Pro)
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe)
NM_001082486.2(ACD):c.453C>A (p.Cys151Ter)
NM_001082486.2(ACD):c.458+20C>T
NM_001082486.2(ACD):c.459-12C>G
NM_001082486.2(ACD):c.459-14C>T rs2142972775
NM_001082486.2(ACD):c.459-16C>T rs1422483519
NM_001082486.2(ACD):c.459-4G>A
NM_001082486.2(ACD):c.459-4G>T
NM_001082486.2(ACD):c.459-5T>C rs367821436
NM_001082486.2(ACD):c.483G>A (p.Ser161=)
NM_001082486.2(ACD):c.485_486insGC (p.Asn163fs) rs2142972519
NM_001082486.2(ACD):c.493+10A>C
NM_001082486.2(ACD):c.493+16A>G
NM_001082486.2(ACD):c.493+19A>G
NM_001082486.2(ACD):c.493+6G>A rs2052945054
NM_001082486.2(ACD):c.494-11C>G
NM_001082486.2(ACD):c.494-19C>T rs749224903
NM_001082486.2(ACD):c.494-5C>G
NM_001082486.2(ACD):c.496_500del (p.Leu166fs)
NM_001082486.2(ACD):c.504G>C (p.Leu168=)
NM_001082486.2(ACD):c.513T>C (p.Leu171=)
NM_001082486.2(ACD):c.515T>C (p.Leu172Pro) rs2142971578
NM_001082486.2(ACD):c.516G>C (p.Leu172=)
NM_001082486.2(ACD):c.526C>T (p.Arg176Trp)
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln) rs145007645
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu) rs145007645
NM_001082486.2(ACD):c.536A>G (p.Gln179Arg)
NM_001082486.2(ACD):c.536del (p.Gln179fs) rs2142971508
NM_001082486.2(ACD):c.547G>A (p.Gly183Arg) rs2142971458
NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)
NM_001082486.2(ACD):c.555C>G (p.Leu185=)
NM_001082486.2(ACD):c.556G>A (p.Val186Met)
NM_001082486.2(ACD):c.558G>A (p.Val186=)
NM_001082486.2(ACD):c.576C>T (p.Cys192=)
NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)
NM_001082486.2(ACD):c.583C>T (p.Leu195=) rs2142971297
NM_001082486.2(ACD):c.585G>A (p.Leu195=)
NM_001082486.2(ACD):c.587A>T (p.Glu196Val)
NM_001082486.2(ACD):c.590G>A (p.Gly197Asp)
NM_001082486.2(ACD):c.591C>T (p.Gly197=)
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)
NM_001082486.2(ACD):c.612C>T (p.Val204=)
NM_001082486.2(ACD):c.626C>T (p.Ala209Val)
NM_001082486.2(ACD):c.627C>A (p.Ala209=)
NM_001082486.2(ACD):c.634T>C (p.Cys212Arg)
NM_001082486.2(ACD):c.641C>T (p.Ala214Val) rs1306270247
NM_001082486.2(ACD):c.645+10G>C
NM_001082486.2(ACD):c.645+16T>C
NM_001082486.2(ACD):c.645+16T>G
NM_001082486.2(ACD):c.645+2T>C
NM_001082486.2(ACD):c.645+7C>G
NM_001082486.2(ACD):c.646-11A>G
NM_001082486.2(ACD):c.646-20A>G
NM_001082486.2(ACD):c.646-6C>T
NM_001082486.2(ACD):c.653C>T (p.Ala218Val)
NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup) rs2142970611
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)
NM_001082486.2(ACD):c.666C>A (p.Val222=)
NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)
NM_001082486.2(ACD):c.676A>G (p.Met226Val)
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe)
NM_001082486.2(ACD):c.702G>C (p.Gln234His) rs1202466632
NM_001082486.2(ACD):c.706A>T (p.Ile236Phe) rs757807430
NM_001082486.2(ACD):c.718C>G (p.Leu240Val)
NM_001082486.2(ACD):c.723C>T (p.Gly241=) rs757919779
NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg)
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly)
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys) rs1048865744
NM_001082486.2(ACD):c.734G>C (p.Arg245Thr) rs1048865744
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys) rs1555542235
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys) rs1597770431
NM_001082486.2(ACD):c.743-3dup rs1369632476
NM_001082486.2(ACD):c.743-6C>T
NM_001082486.2(ACD):c.743-7C>A rs541174802
NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)
NM_001082486.2(ACD):c.751C>G (p.Leu251Val)
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser)
NM_001082486.2(ACD):c.759A>G (p.Pro253=)
NM_001082486.2(ACD):c.764A>G (p.Asp255Gly) rs778481591
NM_001082486.2(ACD):c.765C>T (p.Asp255=)
NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro)
NM_001082486.2(ACD):c.781C>T (p.Leu261=) rs760404492
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile)
NM_001082486.2(ACD):c.79C>A (p.Arg27=)
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)
NM_001082486.2(ACD):c.813C>T (p.Ser271=) rs878924464
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279
NM_001082486.2(ACD):c.820A>G (p.Ser274Gly) rs2052924182
NM_001082486.2(ACD):c.825C>T (p.Ser275=) rs747335465
NM_001082486.2(ACD):c.830-11C>T
NM_001082486.2(ACD):c.830-12C>A
NM_001082486.2(ACD):c.830-13C>A
NM_001082486.2(ACD):c.830-14C>T rs2142968964
NM_001082486.2(ACD):c.830-1G>A rs1597769397
NM_001082486.2(ACD):c.830-2A>T rs2142968890
NM_001082486.2(ACD):c.830-5C>T
NM_001082486.2(ACD):c.830-9C>T
NM_001082486.2(ACD):c.833C>T (p.Thr278Ile)
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu)
NM_001082486.2(ACD):c.861C>G (p.Ser287=) rs751515020
NM_001082486.2(ACD):c.870T>C (p.Ser290=)
NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)
NM_001082486.2(ACD):c.878G>A (p.Ser293Asn) rs2052917223
NM_001082486.2(ACD):c.879C>T (p.Ser293=)
NM_001082486.2(ACD):c.891G>C (p.Leu297=) rs1459307216
NM_001082486.2(ACD):c.894T>A (p.Pro298=) rs773774371
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr)
NM_001082486.2(ACD):c.903C>T (p.Ser301=)
NM_001082486.2(ACD):c.90G>C (p.Gln30His) rs1242526760
NM_001082486.2(ACD):c.911C>T (p.Ala304Val) rs2142968526
NM_001082486.2(ACD):c.931A>T (p.Ser311Cys)
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
NM_001082486.2(ACD):c.939C>G (p.Ser313=) rs1368630251
NM_001082486.2(ACD):c.950_951del (p.Pro317fs) rs2142968355
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr) rs2052915383
NM_001082486.2(ACD):c.965C>T (p.Ala322Val) rs2142968307
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn) rs777812658
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile) rs777812658
NM_001082486.2(ACD):c.975C>T (p.Thr325=)
NM_001082486.2(ACD):c.981C>T (p.Thr327=)
NM_001082486.2(ACD):c.99+19C>T
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp) rs973439601
NM_001082486.2(ACD):c.9T>G (p.Gly3=) rs2142976114
NM_001368809.2(AMPD2):c.-119G>C
NM_001368809.2(AMPD2):c.-133C>T
NM_001368809.2(AMPD2):c.-43_-24dup
NM_001368809.2(AMPD2):c.-45C>T
NM_001368809.2(AMPD2):c.-46C>G rs1650210949
NM_001368809.2(AMPD2):c.-95T>C
NM_001368809.2(AMPD2):c.1005T>C (p.His335=)
NM_001368809.2(AMPD2):c.1035C>T (p.Ala345=)
NM_001368809.2(AMPD2):c.104G>T (p.Gly35Val) rs2101153100
NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)
NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val) rs1195759768
NM_001368809.2(AMPD2):c.1080+16G>A
NM_001368809.2(AMPD2):c.1080+18G>A
NM_001368809.2(AMPD2):c.1080+3G>A
NM_001368809.2(AMPD2):c.1081-18T>C
NM_001368809.2(AMPD2):c.1110C>T (p.Cys370=)
NM_001368809.2(AMPD2):c.1146G>A (p.Arg382=)
NM_001368809.2(AMPD2):c.1158G>A (p.Arg386=)
NM_001368809.2(AMPD2):c.1173C>T (p.Ile391=)
NM_001368809.2(AMPD2):c.1175T>C (p.Val392Ala)
NM_001368809.2(AMPD2):c.1179C>T (p.His393=)
NM_001368809.2(AMPD2):c.1197A>G (p.Glu399=)
NM_001368809.2(AMPD2):c.120G>A (p.Pro40=)
NM_001368809.2(AMPD2):c.1246C>T (p.Leu416=)
NM_001368809.2(AMPD2):c.1252G>A (p.Val418Met) rs2101165160
NM_001368809.2(AMPD2):c.1275+15C>T
NM_001368809.2(AMPD2):c.1275G>A (p.Ala425=)
NM_001368809.2(AMPD2):c.1276-13C>T
NM_001368809.2(AMPD2):c.1276-18C>G
NM_001368809.2(AMPD2):c.1286C>G (p.Thr429Ser) rs2101165790
NM_001368809.2(AMPD2):c.1329T>C (p.Ile443=)
NM_001368809.2(AMPD2):c.1338C>T (p.Ser446=)
NM_001368809.2(AMPD2):c.1365G>A (p.Thr455=)
NM_001368809.2(AMPD2):c.1408-3_1418del
NM_001368809.2(AMPD2):c.1446T>A (p.Asn482Lys) rs756027056
NM_001368809.2(AMPD2):c.144G>A (p.Pro48=)
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln) rs192669225
NM_001368809.2(AMPD2):c.145G>T (p.Gly49Cys) rs1200977295
NM_001368809.2(AMPD2):c.1474C>T (p.Arg492Cys)
NM_001368809.2(AMPD2):c.1478C>T (p.Ser493Leu)
NM_001368809.2(AMPD2):c.1503G>A (p.Ala501=)
NM_001368809.2(AMPD2):c.1505G>A (p.Arg502His)
NM_001368809.2(AMPD2):c.150C>T (p.Pro50=)
NM_001368809.2(AMPD2):c.1512C>T (p.Ala504=) rs769002205
NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile)
NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn) rs374652371
NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)
NM_001368809.2(AMPD2):c.1522C>G (p.Arg508Gly) rs146798795
NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)
NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)
NM_001368809.2(AMPD2):c.1532C>T (p.Ser511Phe) rs2101167424
NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)
NM_001368809.2(AMPD2):c.1571+19G>A
NM_001368809.2(AMPD2):c.1572-13G>T rs1370260788
NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu)
NM_001368809.2(AMPD2):c.1698+1G>A rs1650988132
NM_001368809.2(AMPD2):c.1699-5A>G
NM_001368809.2(AMPD2):c.1699-9C>A
NM_001368809.2(AMPD2):c.1704T>C (p.Asp568=)
NM_001368809.2(AMPD2):c.1725T>C (p.Asp575=) rs2101169930
NM_001368809.2(AMPD2):c.1738G>A (p.Glu580Lys) rs867766720
NM_001368809.2(AMPD2):c.1779G>C (p.Ala593=) rs767362652
NM_001368809.2(AMPD2):c.180C>T (p.Asp60=)
NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)
NM_001368809.2(AMPD2):c.185G>A (p.Arg62His)
NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)
NM_001368809.2(AMPD2):c.1862+10C>G
NM_001368809.2(AMPD2):c.1863-3dup
NM_001368809.2(AMPD2):c.1863-7C>G rs563578390
NM_001368809.2(AMPD2):c.1863-7C>T
NM_001368809.2(AMPD2):c.1881G>A (p.Thr627=)
NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)
NM_001368809.2(AMPD2):c.1971C>T (p.Leu657=)
NM_001368809.2(AMPD2):c.1979G>T (p.Arg660Leu) rs955380053
NM_001368809.2(AMPD2):c.2002C>T (p.Leu668=) rs780963535
NM_001368809.2(AMPD2):c.2013G>A (p.Leu671=)
NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)
NM_001368809.2(AMPD2):c.2064C>T (p.Leu688=)
NM_001368809.2(AMPD2):c.2101C>G (p.Arg701Gly) rs1264297138
NM_001368809.2(AMPD2):c.2127T>C (p.Thr709=)
NM_001368809.2(AMPD2):c.2151C>T (p.Phe717=)
NM_001368809.2(AMPD2):c.2157+14_2157+15delinsCC
NM_001368809.2(AMPD2):c.2157+16G>T
NM_001368809.2(AMPD2):c.2157G>A (p.Lys719=) rs2101174469
NM_001368809.2(AMPD2):c.2158-14C>T
NM_001368809.2(AMPD2):c.2158-6G>C
NM_001368809.2(AMPD2):c.2162C>T (p.Pro721Leu) rs1651160667
NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)
NM_001368809.2(AMPD2):c.222+15C>T
NM_001368809.2(AMPD2):c.222+20G>T
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly) rs762954605
NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His)
NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys)
NM_001368809.2(AMPD2):c.2268+11G>A
NM_001368809.2(AMPD2):c.2268+11G>C
NM_001368809.2(AMPD2):c.2268+18T>C
NM_001368809.2(AMPD2):c.2329C>G (p.Arg777Gly) rs1651209949
NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met)
NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp)
NM_001368809.2(AMPD2):c.237C>G (p.Arg79=) rs1650609306
NM_001368809.2(AMPD2):c.2388G>T (p.Glu796Asp) rs202071045
NM_001368809.2(AMPD2):c.239_262del (p.Ser80_Ser88delinsCys) rs2101154665
NM_001368809.2(AMPD2):c.2403G>A (p.Thr801=)
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=) rs553448801
NM_001368809.2(AMPD2):c.252C>T (p.Ser84=)
NM_001368809.2(AMPD2):c.276G>A (p.Glu92=) rs2101154925
NM_001368809.2(AMPD2):c.279C>T (p.Phe93=) rs2101154929
NM_001368809.2(AMPD2):c.282C>T (p.Pro94=)
NM_001368809.2(AMPD2):c.294C>T (p.Pro98=)
NM_001368809.2(AMPD2):c.314G>T (p.Arg105Leu) rs1650618181
NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp)
NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)
NM_001368809.2(AMPD2):c.321G>A (p.Gln107=)
NM_001368809.2(AMPD2):c.330G>A (p.Glu110=)
NM_001368809.2(AMPD2):c.353+3G>A
NM_001368809.2(AMPD2):c.353+8C>A
NM_001368809.2(AMPD2):c.353+8C>T rs376994583
NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp)
NM_001368809.2(AMPD2):c.41A>T (p.Lys14Ile)
NM_001368809.2(AMPD2):c.422A>G (p.Gln141Arg) rs2101156801
NM_001368809.2(AMPD2):c.423-10C>T rs1010263262
NM_001368809.2(AMPD2):c.423-6C>G
NM_001368809.2(AMPD2):c.439G>C (p.Gly147Arg)
NM_001368809.2(AMPD2):c.456C>T (p.Asp152=)
NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp) rs373334637
NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln)
NM_001368809.2(AMPD2):c.474T>C (p.Arg158=) rs2101157468
NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp)
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro) rs138175138
NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser)
NM_001368809.2(AMPD2):c.531+12G>A rs765227765
NM_001368809.2(AMPD2):c.532-19C>T
NM_001368809.2(AMPD2):c.574C>A (p.Arg192=)
NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys)
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
NM_001368809.2(AMPD2):c.66C>T (p.Ser22=)
NM_001368809.2(AMPD2):c.679C>T (p.Arg227Trp)
NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)
NM_001368809.2(AMPD2):c.705C>T (p.Thr235=)
NM_001368809.2(AMPD2):c.719-13C>T
NM_001368809.2(AMPD2):c.73G>T (p.Ala25Ser) rs943933650
NM_001368809.2(AMPD2):c.741G>A (p.Ala247=)
NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)
NM_001368809.2(AMPD2):c.756G>A (p.Pro252=)
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)
NM_001368809.2(AMPD2):c.809G>A (p.Arg270His) rs749468757
NM_001368809.2(AMPD2):c.81T>C (p.Thr27=)
NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)
NM_001368809.2(AMPD2):c.831C>T (p.His277=)
NM_001368809.2(AMPD2):c.832G>C (p.Val278Leu) rs770528852
NM_001368809.2(AMPD2):c.842G>A (p.Arg281His)
NM_001368809.2(AMPD2):c.852CGA[1] (p.Asp285del) rs1650781134
NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn)
NM_001368809.2(AMPD2):c.861-3C>T
NM_001368809.2(AMPD2):c.91+9G>A rs750556724
NM_001368809.2(AMPD2):c.913G>A (p.Val305Ile)
NM_001368809.2(AMPD2):c.948C>T (p.Pro316=)
NM_001368809.2(AMPD2):c.950+12G>C
NM_001368809.2(AMPD2):c.950+19C>A
NM_001368809.2(AMPD2):c.951-11_951-9del rs2101163203
NM_001368809.2(AMPD2):c.951-7T>C
NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu) rs746332433
NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter) rs1345413118
NM_002449.5(MSX2):c.116G>T (p.Arg39Leu)
NM_002449.5(MSX2):c.127T>C (p.Ser43Pro)
NM_002449.5(MSX2):c.143G>C (p.Ser48Thr) rs1760741097
NM_002449.5(MSX2):c.152C>T (p.Ala51Val) rs1344807799
NM_002449.5(MSX2):c.157A>C (p.Met53Leu)
NM_002449.5(MSX2):c.163G>C (p.Asp55His)
NM_002449.5(MSX2):c.177C>T (p.Pro59=)
NM_002449.5(MSX2):c.179A>C (p.Lys60Thr) rs2113491774
NM_002449.5(MSX2):c.197C>G (p.Pro66Arg)
NM_002449.5(MSX2):c.197C>T (p.Pro66Leu)
NM_002449.5(MSX2):c.213G>T (p.Ser71=)
NM_002449.5(MSX2):c.215C>G (p.Ala72Gly)
NM_002449.5(MSX2):c.22A>C (p.Asn8His) rs1760735062
NM_002449.5(MSX2):c.235C>T (p.Leu79=)
NM_002449.5(MSX2):c.23A>G (p.Asn8Ser)
NM_002449.5(MSX2):c.254del (p.Gly85fs)
NM_002449.5(MSX2):c.2T>C (p.Met1Thr)
NM_002449.5(MSX2):c.304G>C (p.Ala102Pro)
NM_002449.5(MSX2):c.332A>T (p.Asp111Val)
NM_002449.5(MSX2):c.338C>T (p.Ala113Val)
NM_002449.5(MSX2):c.357C>G (p.Pro119=)
NM_002449.5(MSX2):c.360C>T (p.Gly120=) rs778509123
NM_002449.5(MSX2):c.361C>G (p.Arg121Gly)
NM_002449.5(MSX2):c.379+11G>A
NM_002449.5(MSX2):c.379+13C>T
NM_002449.5(MSX2):c.379+8C>G rs1382294618
NM_002449.5(MSX2):c.380-11C>G
NM_002449.5(MSX2):c.380-16T>A
NM_002449.5(MSX2):c.380-17CT[3]
NM_002449.5(MSX2):c.380-18C>G rs200429446
NM_002449.5(MSX2):c.380-18C>T
NM_002449.5(MSX2):c.386_387inv (p.Met129Thr)
NM_002449.5(MSX2):c.39C>T (p.Pro13=)
NM_002449.5(MSX2):c.437G>A (p.Arg146His)
NM_002449.5(MSX2):c.43G>A (p.Glu15Lys)
NM_002449.5(MSX2):c.442C>T (p.Pro148Ser) rs1581520079
NM_002449.5(MSX2):c.443C>A (p.Pro148His) rs104893895
NM_002449.5(MSX2):c.443C>T (p.Pro148Leu) rs104893895
NM_002449.5(MSX2):c.444C>T (p.Pro148=)
NM_002449.5(MSX2):c.449C>G (p.Thr150Ser) rs2113498683
NM_002449.5(MSX2):c.451A>G (p.Thr151Ala)
NM_002449.5(MSX2):c.452C>T (p.Thr151Ile)
NM_002449.5(MSX2):c.457C>T (p.Gln153Ter) rs2113498696
NM_002449.5(MSX2):c.465C>T (p.Leu155=)
NM_002449.5(MSX2):c.474G>A (p.Glu158=)
NM_002449.5(MSX2):c.479A>G (p.Lys160Arg)
NM_002449.5(MSX2):c.501C>T (p.Leu167=)
NM_002449.5(MSX2):c.505A>G (p.Ile169Val) rs2113498787
NM_002449.5(MSX2):c.50G>T (p.Gly17Val)
NM_002449.5(MSX2):c.528C>T (p.Ser176=)
NM_002449.5(MSX2):c.572A>G (p.Gln191Arg) rs1760875161
NM_002449.5(MSX2):c.591G>A (p.Ala197=)
NM_002449.5(MSX2):c.597A>G (p.Arg199=)
NM_002449.5(MSX2):c.613C>G (p.Leu205Val)
NM_002449.5(MSX2):c.643A>T (p.Met215Leu)
NM_002449.5(MSX2):c.645G>A (p.Met215Ile)
NM_002449.5(MSX2):c.653C>T (p.Ser218Phe)
NM_002449.5(MSX2):c.670T>C (p.Phe224Leu)
NM_002449.5(MSX2):c.683C>T (p.Ser228Leu)
NM_002449.5(MSX2):c.712G>A (p.Ala238Thr) rs1435910539
NM_002449.5(MSX2):c.722C>T (p.Pro241Leu)
NM_002449.5(MSX2):c.726C>A (p.Phe242Leu)
NM_002449.5(MSX2):c.73G>C (p.Gly25Arg)
NM_002449.5(MSX2):c.745A>G (p.Ile249Val) rs1760880294
NM_002449.5(MSX2):c.762C>G (p.Leu254=)
NM_002449.5(MSX2):c.764A>G (p.Tyr255Cys)
NM_002449.5(MSX2):c.771G>A (p.Thr257=)
NM_002449.5(MSX2):c.789G>A (p.Met263Ile)
NM_002449.5(MSX2):c.798G>C (p.Leu266=)
NM_002601.4(PDE6D):c.117T>A (p.Ser39=) rs2106261946
NM_002601.4(PDE6D):c.126T>G (p.Gly42=) rs2106261935
NM_002601.4(PDE6D):c.139+14C>G
NM_002601.4(PDE6D):c.139+19T>C
NM_002601.4(PDE6D):c.139+20C>G
NM_002601.4(PDE6D):c.15C>T (p.Asp5=) rs2106294236
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
NM_002601.4(PDE6D):c.183A>G (p.Arg61=) rs2106261155
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
NM_002601.4(PDE6D):c.266-3C>T rs2106260539
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro) rs2106260506
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile) rs2048708941
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys) rs1023549002
NM_002601.4(PDE6D):c.33C>T (p.Ile11=)
NM_002601.4(PDE6D):c.342del (p.Glu114fs)
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
NM_002601.4(PDE6D):c.372-7C>A rs2048664865
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp) rs2106256926
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser) rs1366113264
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
NM_002601.4(PDE6D):c.50+7G>T rs2106294152
NM_002601.4(PDE6D):c.51-12A>G
NM_002601.4(PDE6D):c.51-19del
NM_002601.4(PDE6D):c.51A>C (p.Leu17=) rs1328575509
NM_002601.4(PDE6D):c.66del (p.Arg23fs) rs2106261987
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp) rs570163390
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
NM_003384.2(VRK1):c.318_889+1945del
NM_003384.3(VRK1):c.-5-146A>G
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu) rs1261157260
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly) rs1888350254
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val) rs1888350254
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg) rs779911846
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro) rs1566713262
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
NM_003384.3(VRK1):c.1038T>C (p.Asn346=) rs2139815079
NM_003384.3(VRK1):c.103_104del (p.Lys35fs) rs2139748811
NM_003384.3(VRK1):c.1056A>G (p.Lys352=) rs2139815109
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) rs794727029
NM_003384.3(VRK1):c.1059A>C (p.Thr353=) rs1226336700
NM_003384.3(VRK1):c.105G>A (p.Lys35=)
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1068+10G>A
NM_003384.3(VRK1):c.1068+17_1068+21del
NM_003384.3(VRK1):c.1068+20T>C
NM_003384.3(VRK1):c.1068+20T>G
NM_003384.3(VRK1):c.1068+9T>C
NM_003384.3(VRK1):c.1069-12T>G
NM_003384.3(VRK1):c.1069-17T>C
NM_003384.3(VRK1):c.1069-17T>G
NM_003384.3(VRK1):c.1069-19_1069-16del
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1069-6T>C rs1889016062
NM_003384.3(VRK1):c.1069-9A>T
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met) rs1595691552
NM_003384.3(VRK1):c.1072C>A (p.Arg358=)
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
NM_003384.3(VRK1):c.1083A>G (p.Glu361=)
NM_003384.3(VRK1):c.1086T>C (p.Ile362=) rs2139845833
NM_003384.3(VRK1):c.1094del (p.Ser365fs) rs2139845854
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs) rs2139845849
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg) rs2139748832
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg) rs1470768259
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala) rs1168205465
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter) rs2139748841
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs) rs2139845924
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro) rs199759408
NM_003384.3(VRK1):c.1119G>A (p.Thr373=) rs777515325
NM_003384.3(VRK1):c.1122A>G (p.Glu374=)
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg) rs1595691599
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs) rs1889019962
NM_003384.3(VRK1):c.1134A>G (p.Thr378=)
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
NM_003384.3(VRK1):c.1146G>A (p.Glu382=) rs1889020417
NM_003384.3(VRK1):c.1149C>T (p.Ala383=) rs1257711610
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
NM_003384.3(VRK1):c.1159+10A>G rs756764690
NM_003384.3(VRK1):c.1159+11C>T
NM_003384.3(VRK1):c.1159+18G>T
NM_003384.3(VRK1):c.1159+1G>A rs774877872
NM_003384.3(VRK1):c.1160-14G>C
NM_003384.3(VRK1):c.1160-2A>G rs199916225
NM_003384.3(VRK1):c.1160-4C>G
NM_003384.3(VRK1):c.1160-4C>T
NM_003384.3(VRK1):c.1160-5T>C rs2139857584
NM_003384.3(VRK1):c.1160-7C>T rs1251234541
NM_003384.3(VRK1):c.1160-7del
NM_003384.3(VRK1):c.1160-8del rs2139857568
NM_003384.3(VRK1):c.1161T>C (p.Arg387=) rs1196862965
NM_003384.3(VRK1):c.1161T>G (p.Arg387=)
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.1176G>A (p.Lys392=)
NM_003384.3(VRK1):c.120A>G (p.Gly40=)
NM_003384.3(VRK1):c.12A>T (p.Val4=)
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
NM_003384.3(VRK1):c.135A>G (p.Gln45=) rs1595660598
NM_003384.3(VRK1):c.138A>G (p.Gly46=)
NM_003384.3(VRK1):c.150T>C (p.Cys50=) rs747562164
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter) rs1887100431
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
NM_003384.3(VRK1):c.160+1G>T rs2139749072
NM_003384.3(VRK1):c.160+1del
NM_003384.3(VRK1):c.161-10T>C
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.161-6A>T
NM_003384.3(VRK1):c.161-7dup rs1295596727
NM_003384.3(VRK1):c.179_180del (p.Glu60fs) rs2139759363
NM_003384.3(VRK1):c.183A>G (p.Ser61=)
NM_003384.3(VRK1):c.184G>A (p.Val62Ile) rs1555360117
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.216+9T>C
NM_003384.3(VRK1):c.217-10A>G rs2139778948
NM_003384.3(VRK1):c.217-10dup
NM_003384.3(VRK1):c.217-12T>C
NM_003384.3(VRK1):c.217-14T>C
NM_003384.3(VRK1):c.217-3A>G rs1009112116
NM_003384.3(VRK1):c.217-7T>C rs2139778978
NM_003384.3(VRK1):c.217-8_217-7del
NM_003384.3(VRK1):c.217-9T>C rs529433051
NM_003384.3(VRK1):c.217-9del rs2139778965
NM_003384.3(VRK1):c.219A>G (p.Glu73=)
NM_003384.3(VRK1):c.21T>C (p.Ala7=)
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
NM_003384.3(VRK1):c.222C>T (p.Pro74=)
NM_003384.3(VRK1):c.222del (p.Ser75fs) rs2139779014
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
NM_003384.3(VRK1):c.237T>G (p.Pro79=)
NM_003384.3(VRK1):c.238C>G (p.Leu80Val) rs2139779081
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys) rs2139779137
NM_003384.3(VRK1):c.252A>G (p.Leu84=)
NM_003384.3(VRK1):c.261C>T (p.Tyr87=) rs748309797
NM_003384.3(VRK1):c.270T>C (p.Ala90=)
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro) rs1887677369
NM_003384.3(VRK1):c.286+11C>A
NM_003384.3(VRK1):c.286+11C>T
NM_003384.3(VRK1):c.286+15A>G
NM_003384.3(VRK1):c.287-11T>C
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.287-4G>A rs1395180911
NM_003384.3(VRK1):c.287-4G>T rs1395180911
NM_003384.3(VRK1):c.287-7T>C
NM_003384.3(VRK1):c.287-8_287-7delinsTA rs1064795545
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
NM_003384.3(VRK1):c.306C>G (p.Thr102=) rs1326352230
NM_003384.3(VRK1):c.312G>A (p.Lys104=) rs1269621133
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
NM_003384.3(VRK1):c.327T>A (p.Gly109=)
NM_003384.3(VRK1):c.330T>C (p.Val110=)
NM_003384.3(VRK1):c.339T>C (p.Tyr113=)
NM_003384.3(VRK1):c.354A>G (p.Leu118=)
NM_003384.3(VRK1):c.362_365del (p.Lys121fs) rs772146380
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly) rs1887746110
NM_003384.3(VRK1):c.374+15G>C
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.374+7A>T
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-10T>C rs2139795498
NM_003384.3(VRK1):c.375-12A>G
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.375-19T>C
NM_003384.3(VRK1):c.375-4T>C
NM_003384.3(VRK1):c.378C>T (p.Tyr126=) rs1344283744
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp) rs1888003676
NM_003384.3(VRK1):c.381G>A (p.Arg127=) rs2139795531
NM_003384.3(VRK1):c.387dup (p.Ile130fs) rs2139795550
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
NM_003384.3(VRK1):c.396T>C (p.Asp132=) rs2139795583
NM_003384.3(VRK1):c.399C>T (p.Arg133=)
NM_003384.3(VRK1):c.402_890-895del
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu) rs764788560
NM_003384.3(VRK1):c.426T>C (p.Tyr142=) rs2139795639
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu) rs1888005284
NM_003384.3(VRK1):c.444G>A (p.Arg148=)
NM_003384.3(VRK1):c.456A>G (p.Lys152=) rs2139795727
NM_003384.3(VRK1):c.459T>C (p.Thr153=) rs145911601
NM_003384.3(VRK1):c.462C>A (p.Val154=) rs757654085
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu) rs763034734
NM_003384.3(VRK1):c.471A>C (p.Leu157=) rs2139795805
NM_003384.3(VRK1):c.474C>T (p.Ser158=) rs2139795825
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser) rs888338488
NM_003384.3(VRK1):c.483+10_483+23del rs1888009081
NM_003384.3(VRK1):c.483+12A>G
NM_003384.3(VRK1):c.483+15T>A
NM_003384.3(VRK1):c.483+17C>G
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.483+20_483+22del rs566207500
NM_003384.3(VRK1):c.483+20dup
NM_003384.3(VRK1):c.483+8A>G rs2139795917
NM_003384.3(VRK1):c.483T>A (p.Ile161=) rs1888008625
NM_003384.3(VRK1):c.484-15A>T
NM_003384.3(VRK1):c.484-16T>C
NM_003384.3(VRK1):c.484-18T>C
NM_003384.3(VRK1):c.484-18T>G
NM_003384.3(VRK1):c.484-5C>T
NM_003384.3(VRK1):c.484-6T>G
NM_003384.3(VRK1):c.484-6dup rs2139796250
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro) rs1888014947
NM_003384.3(VRK1):c.495G>C (p.Leu165=) rs2139796298
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
NM_003384.3(VRK1):c.513T>C (p.His171=) rs2139796362
NM_003384.3(VRK1):c.516G>A (p.Glu172=) rs2139796370
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg) rs888762581
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup) rs2139796397
NM_003384.3(VRK1):c.534C>T (p.Ile178=)
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg) rs1566708080
NM_003384.3(VRK1):c.537G>A (p.Lys179=) rs1888016926
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer) rs2139796429
NM_003384.3(VRK1):c.544A>C (p.Asn182His) rs745552947
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del) rs774219368
NM_003384.3(VRK1):c.549T>C (p.Leu183=) rs1888017489
NM_003384.3(VRK1):c.551T>A (p.Leu184His) rs1888017746
NM_003384.3(VRK1):c.555G>C (p.Leu185=) rs2139796508
NM_003384.3(VRK1):c.561C>T (p.Tyr187=) rs2139796518
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
NM_003384.3(VRK1):c.576+11A>G
NM_003384.3(VRK1):c.576+18A>G
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.577-11del
NM_003384.3(VRK1):c.577-16G>C
NM_003384.3(VRK1):c.577-18G>A
NM_003384.3(VRK1):c.577-18G>T
NM_003384.3(VRK1):c.577-18del rs759260596
NM_003384.3(VRK1):c.577-5T>C
NM_003384.3(VRK1):c.57T>C (p.Leu19=) rs2139748645
NM_003384.3(VRK1):c.582C>T (p.Tyr194=)
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe) rs748878251
NM_003384.3(VRK1):c.586G>C (p.Val196Leu) rs372089106
NM_003384.3(VRK1):c.588A>G (p.Val196=) rs1387075963
NM_003384.3(VRK1):c.591T>C (p.Asp197=)
NM_003384.3(VRK1):c.600T>C (p.Leu200=)
NM_003384.3(VRK1):c.603T>G (p.Ala201=) rs1157448476
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
NM_003384.3(VRK1):c.609G>A (p.Arg203=)
NM_003384.3(VRK1):c.609G>C (p.Arg203=) rs1298227038
NM_003384.3(VRK1):c.615C>T (p.Cys205=) rs772730428
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
NM_003384.3(VRK1):c.636A>G (p.Glu212=) rs776975502
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.648C>T (p.Asp216=) rs765348075
NM_003384.3(VRK1):c.651C>G (p.Pro217=) rs2139801938
NM_003384.3(VRK1):c.651C>T (p.Pro217=) rs2139801938
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter) rs2139801958
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter) rs762979613
NM_003384.3(VRK1):c.660T>C (p.Cys220=) rs762979613
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp) rs1555361508
NM_003384.3(VRK1):c.668G>T (p.Gly223Val) rs1555361508
NM_003384.3(VRK1):c.669C>T (p.Gly223=)
NM_003384.3(VRK1):c.672T>A (p.Thr224=)
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
NM_003384.3(VRK1):c.684G>A (p.Thr228=) rs753585913
NM_003384.3(VRK1):c.684G>C (p.Thr228=)
NM_003384.3(VRK1):c.690C>T (p.Ile230=) rs747694940
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly) rs757917768
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser) rs2139802156
NM_003384.3(VRK1):c.705C>G (p.Gly235=) rs2230532
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.709+12G>A
NM_003384.3(VRK1):c.709+13T>A
NM_003384.3(VRK1):c.709+14A>G
NM_003384.3(VRK1):c.709+17G>A
NM_003384.3(VRK1):c.709+18G>T
NM_003384.3(VRK1):c.709+7_709+12dup
NM_003384.3(VRK1):c.709+8A>G
NM_003384.3(VRK1):c.710-13C>G
NM_003384.3(VRK1):c.710-15C>G rs757988438
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.710-8A>G rs781693457
NM_003384.3(VRK1):c.710-9C>T
NM_003384.3(VRK1):c.711C>T (p.Ala237=) rs2139803845
NM_003384.3(VRK1):c.729T>C (p.Asp243=)
NM_003384.3(VRK1):c.72A>G (p.Ala24=)
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter) rs1200170208
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro) rs1478722226
NM_003384.3(VRK1):c.747T>C (p.Tyr249=)
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp) rs1888144387
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg) rs768822328
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
NM_003384.3(VRK1):c.768T>C (p.Thr256=) rs2139804008
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191
NM_003384.3(VRK1):c.779del (p.Pro260fs)
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter) rs2139804073
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe) rs1566696565
NM_003384.3(VRK1):c.804T>C (p.Pro268=)
NM_003384.3(VRK1):c.804T>G (p.Pro268=)
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu) rs1888147421
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
NM_003384.3(VRK1):c.817G>C (p.Asp273His) rs1595677216
NM_003384.3(VRK1):c.822C>T (p.Ser274=)
NM_003384.3(VRK1):c.830+12C>T
NM_003384.3(VRK1):c.830+16_830+20del
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.830+7G>A rs2139804244
NM_003384.3(VRK1):c.830+9A>G rs2139804260
NM_003384.3(VRK1):c.831-12A>T
NM_003384.3(VRK1):c.831-16C>T
NM_003384.3(VRK1):c.831-9T>C rs2139804862
NM_003384.3(VRK1):c.837A>G (p.Arg279=)
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
NM_003384.3(VRK1):c.864A>G (p.Lys288=) rs1744342065
NM_003384.3(VRK1):c.881del (p.Asn294fs)
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003384.3(VRK1):c.883_886del (p.Lys295fs) rs779282547
NM_003384.3(VRK1):c.889+10G>A
NM_003384.3(VRK1):c.889+10G>T rs1456272984
NM_003384.3(VRK1):c.889+11A>G
NM_003384.3(VRK1):c.889+14T>C
NM_003384.3(VRK1):c.889+15C>T
NM_003384.3(VRK1):c.889+18C>T
NM_003384.3(VRK1):c.889+19A>C
NM_003384.3(VRK1):c.889+1G>A rs1482696609
NM_003384.3(VRK1):c.889+20G>C rs1347150139
NM_003384.3(VRK1):c.889+20G>T rs1347150139
NM_003384.3(VRK1):c.889+8A>G
NM_003384.3(VRK1):c.889+9T>C rs1257886278
NM_003384.3(VRK1):c.890-10A>G
NM_003384.3(VRK1):c.890-15G>A
NM_003384.3(VRK1):c.890-19G>A
NM_003384.3(VRK1):c.890-19G>C
NM_003384.3(VRK1):c.890-22_890-15del
NM_003384.3(VRK1):c.890-4T>C rs2139814659
NM_003384.3(VRK1):c.894A>G (p.Glu298=)
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
NM_003384.3(VRK1):c.897del (p.Ile299fs) rs2139814687
NM_003384.3(VRK1):c.8G>A (p.Arg3His) rs902439355
NM_003384.3(VRK1):c.913dup (p.Thr305fs) rs2139814734
NM_003384.3(VRK1):c.915A>G (p.Thr305=) rs1481654179
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
NM_003384.3(VRK1):c.933C>T (p.Tyr311=)
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu) rs761494436
NM_003384.3(VRK1):c.948T>C (p.Leu316=)
NM_003384.3(VRK1):c.948T>G (p.Leu316=)
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
NM_003384.3(VRK1):c.962G>A (p.Arg321His) rs200927943
NM_003384.3(VRK1):c.967A>G (p.Ile323Val) rs754315181
NM_003384.3(VRK1):c.969T>C (p.Ile323=)
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg) rs2139814873
NM_003384.3(VRK1):c.972T>C (p.Leu324=) rs2139814880
NM_003384.3(VRK1):c.972T>G (p.Leu324=)
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_003384.3(VRK1):c.984A>G (p.Leu328=) rs765633672
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
NM_003384.3(VRK1):c.9T>G (p.Arg3=) rs771646609
NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu)
NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val)
NM_005027.4(PIK3R2):c.1010+11G>T
NM_005027.4(PIK3R2):c.1026G>C (p.Glu342Asp)
NM_005027.4(PIK3R2):c.1032C>G (p.Leu344=)
NM_005027.4(PIK3R2):c.1034G>A (p.Arg345Gln)
NM_005027.4(PIK3R2):c.1035G>C (p.Arg345=)
NM_005027.4(PIK3R2):c.103C>T (p.Arg35Trp)
NM_005027.4(PIK3R2):c.1044C>T (p.Pro348=)
NM_005027.4(PIK3R2):c.1049G>T (p.Gly350Val)
NM_005027.4(PIK3R2):c.1066G>A (p.Asp356Asn) rs2147952202
NM_005027.4(PIK3R2):c.1099C>G (p.Leu367Val) rs903373803
NM_005027.4(PIK3R2):c.1109+14C>T
NM_005027.4(PIK3R2):c.1109+7G>T
NM_005027.4(PIK3R2):c.1110-10C>A rs1599977480
NM_005027.4(PIK3R2):c.1110-16C>T
NM_005027.4(PIK3R2):c.1110-3C>A
NM_005027.4(PIK3R2):c.1110-4C>T rs948209108
NM_005027.4(PIK3R2):c.1113A>G (p.Lys371=)
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.1124A>G (p.Asn375Ser) rs1421203694
NM_005027.4(PIK3R2):c.1161T>C (p.Tyr387=)
NM_005027.4(PIK3R2):c.1192G>C (p.Val398Leu) rs771756537
NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val)
NM_005027.4(PIK3R2):c.120G>A (p.Ala40=)
NM_005027.4(PIK3R2):c.1216C>T (p.Arg406Cys)
NM_005027.4(PIK3R2):c.1290+12C>T
NM_005027.4(PIK3R2):c.1290+19G>A
NM_005027.4(PIK3R2):c.1291-11C>T
NM_005027.4(PIK3R2):c.1291-15G>A rs767807584
NM_005027.4(PIK3R2):c.1317G>A (p.Val439=)
NM_005027.4(PIK3R2):c.1329C>A (p.Gly443=) rs199931960
NM_005027.4(PIK3R2):c.132C>T (p.Ala44=)
NM_005027.4(PIK3R2):c.1361A>G (p.Gln454Arg)
NM_005027.4(PIK3R2):c.1380T>C (p.Tyr460=) rs2147953748
NM_005027.4(PIK3R2):c.138T>G (p.Gly46=)
NM_005027.4(PIK3R2):c.1410C>T (p.Thr470=)
NM_005027.4(PIK3R2):c.1416+14C>T
NM_005027.4(PIK3R2):c.1480C>T (p.Gln494Ter)
NM_005027.4(PIK3R2):c.1516C>T (p.Leu506=)
NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)
NM_005027.4(PIK3R2):c.1529G>A (p.Arg510Gln)
NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys)
NM_005027.4(PIK3R2):c.1559+11C>T
NM_005027.4(PIK3R2):c.1575C>G (p.Ser525=)
NM_005027.4(PIK3R2):c.1576G>A (p.Glu526Lys)
NM_005027.4(PIK3R2):c.159C>T (p.Ser53=)
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)
NM_005027.4(PIK3R2):c.1652C>T (p.Ser551Leu)
NM_005027.4(PIK3R2):c.1665G>A (p.Glu555=)
NM_005027.4(PIK3R2):c.1668C>A (p.Ile556=)
NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His)
NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser) rs769397940
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) rs1131691683
NM_005027.4(PIK3R2):c.1736+5G>C
NM_005027.4(PIK3R2):c.1736+6T>G
NM_005027.4(PIK3R2):c.174C>T (p.Pro58=)
NM_005027.4(PIK3R2):c.1766A>G (p.Lys589Arg)
NM_005027.4(PIK3R2):c.1775A>G (p.Asn592Ser)
NM_005027.4(PIK3R2):c.177C>T (p.Gly59=) rs557476940
NM_005027.4(PIK3R2):c.1808+11G>C
NM_005027.4(PIK3R2):c.1809-6C>T
NM_005027.4(PIK3R2):c.1809-7A>T rs201271257
NM_005027.4(PIK3R2):c.1809-8dup rs566994275
NM_005027.4(PIK3R2):c.1827G>A (p.Glu609=)
NM_005027.4(PIK3R2):c.1842C>T (p.Leu614=)
NM_005027.4(PIK3R2):c.1845G>A (p.Pro615=) rs201568661
NM_005027.4(PIK3R2):c.1845G>T (p.Pro615=) rs201568661
NM_005027.4(PIK3R2):c.186G>A (p.Glu62=)
NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=) rs1258315228
NM_005027.4(PIK3R2):c.1890G>A (p.Thr630=)
NM_005027.4(PIK3R2):c.1903A>G (p.Met635Val)
NM_005027.4(PIK3R2):c.1955G>A (p.Arg652Gln)
NM_005027.4(PIK3R2):c.1977G>T (p.Val659=)
NM_005027.4(PIK3R2):c.1979+12G>A
NM_005027.4(PIK3R2):c.1980-16_1980-3del
NM_005027.4(PIK3R2):c.1980-4A>C
NM_005027.4(PIK3R2):c.1987G>C (p.Gly663Arg)
NM_005027.4(PIK3R2):c.1988_1989delinsAA (p.Gly663Glu)
NM_005027.4(PIK3R2):c.199C>T (p.Arg67Ter) rs2147945157
NM_005027.4(PIK3R2):c.2004C>G (p.Cys668Trp) rs2147960455
NM_005027.4(PIK3R2):c.2074C>T (p.Leu692=) rs372448001
NM_005027.4(PIK3R2):c.2085C>T (p.His695=)
NM_005027.4(PIK3R2):c.2094C>T (p.His698=)
NM_005027.4(PIK3R2):c.2133C>G (p.Thr711=)
NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu)
NM_005027.4(PIK3R2):c.2152G>T (p.Ala718Ser)
NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val)
NM_005027.4(PIK3R2):c.2169GCC[1] (p.Pro725del)
NM_005027.4(PIK3R2):c.216C>T (p.Gly72=)
NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser)
NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)
NM_005027.4(PIK3R2):c.266G>A (p.Arg89His)
NM_005027.4(PIK3R2):c.267C>T (p.Arg89=)
NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys)
NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys)
NM_005027.4(PIK3R2):c.292G>A (p.Ala98Thr)
NM_005027.4(PIK3R2):c.31G>T (p.Ala11Ser)
NM_005027.4(PIK3R2):c.322+18G>C
NM_005027.4(PIK3R2):c.322+18G>T rs201235026
NM_005027.4(PIK3R2):c.323-8C>T
NM_005027.4(PIK3R2):c.327C>T (p.Leu109=)
NM_005027.4(PIK3R2):c.328A>G (p.Thr110Ala)
NM_005027.4(PIK3R2):c.329C>G (p.Thr110Arg)
NM_005027.4(PIK3R2):c.340T>C (p.Leu114=)
NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys)
NM_005027.4(PIK3R2):c.372T>C (p.Ala124=)
NM_005027.4(PIK3R2):c.399G>A (p.Glu133=)
NM_005027.4(PIK3R2):c.415+17C>T
NM_005027.4(PIK3R2):c.415+8C>T
NM_005027.4(PIK3R2):c.416-5C>G
NM_005027.4(PIK3R2):c.42G>C (p.Pro14=) rs767495472
NM_005027.4(PIK3R2):c.453C>T (p.Pro151=) rs2147949807
NM_005027.4(PIK3R2):c.459_460delinsAG (p.Arg154Gly)
NM_005027.4(PIK3R2):c.466+11G>T rs376952388
NM_005027.4(PIK3R2):c.466+17A>G
NM_005027.4(PIK3R2):c.466+20G>C
NM_005027.4(PIK3R2):c.467-5C>T
NM_005027.4(PIK3R2):c.46C>G (p.Arg16Gly)
NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys) rs80233027
NM_005027.4(PIK3R2):c.498C>T (p.Asp166=)
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)
NM_005027.4(PIK3R2):c.546C>G (p.Pro182=)
NM_005027.4(PIK3R2):c.55C>T (p.Arg19Trp)
NM_005027.4(PIK3R2):c.565G>A (p.Glu189Lys)
NM_005027.4(PIK3R2):c.571_572inv (p.Ser191Glu)
NM_005027.4(PIK3R2):c.57G>A (p.Arg19=)
NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp)
NM_005027.4(PIK3R2):c.598+11C>T
NM_005027.4(PIK3R2):c.598+12G>A
NM_005027.4(PIK3R2):c.598+15T>C
NM_005027.4(PIK3R2):c.60G>A (p.Pro20=)
NM_005027.4(PIK3R2):c.618G>A (p.Gly206=)
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)
NM_005027.4(PIK3R2):c.695T>G (p.Val232Gly) rs2147950675
NM_005027.4(PIK3R2):c.720T>C (p.Gly240=) rs2043744166
NM_005027.4(PIK3R2):c.721C>A (p.Pro241Thr) rs1168878327
NM_005027.4(PIK3R2):c.747C>T (p.Thr249=)
NM_005027.4(PIK3R2):c.766_783dup (p.Pro261_Ser262insArgAlaProProProPro)
NM_005027.4(PIK3R2):c.772CCG[3] (p.Pro261del) rs1173823214
NM_005027.4(PIK3R2):c.777G>A (p.Pro259=)
NM_005027.4(PIK3R2):c.778C>T (p.Pro260Ser)
NM_005027.4(PIK3R2):c.780G>A (p.Pro260=)
NM_005027.4(PIK3R2):c.780_797dup (p.Pro266_Gly267insProSerSerProProPro)
NM_005027.4(PIK3R2):c.783_785dup (p.Ser263_Pro264insSer)
NM_005027.4(PIK3R2):c.783_797dup (p.Pro266_Gly267insSerSerProProPro)
NM_005027.4(PIK3R2):c.810C>T (p.Pro270=)
NM_005027.4(PIK3R2):c.815+5GGGGC[3] rs1008971604
NM_005027.4(PIK3R2):c.815+7G>A rs2147950994
NM_005027.4(PIK3R2):c.816-9C>T
NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn)
NM_005027.4(PIK3R2):c.82G>A (p.Gly28Ser) rs112165780
NM_005027.4(PIK3R2):c.855G>A (p.Glu285=)
NM_005027.4(PIK3R2):c.874T>C (p.Leu292=)
NM_005027.4(PIK3R2):c.877G>A (p.Glu293Lys)
NM_005027.4(PIK3R2):c.87C>T (p.Asp29=)
NM_005027.4(PIK3R2):c.888G>A (p.Glu296=)
NM_005027.4(PIK3R2):c.903G>C (p.Ala301=)
NM_005027.4(PIK3R2):c.924G>A (p.Lys308=)
NM_005027.4(PIK3R2):c.937T>G (p.Ser313Ala)
NM_005027.4(PIK3R2):c.942A>T (p.Thr314=)
NM_005027.4(PIK3R2):c.949G>A (p.Ala317Thr)
NM_005027.4(PIK3R2):c.965C>T (p.Pro322Leu)
NM_005465.7(AKT3):c.1101A>C (p.Arg367=) rs2148466016
NM_005465.7(AKT3):c.1215C>T (p.Phe405=)
NM_005465.7(AKT3):c.1251+15T>C
NM_005465.7(AKT3):c.1251+5G>T rs780490457
NM_005465.7(AKT3):c.1252-10C>G rs2148363624
NM_005465.7(AKT3):c.1252-20C>G
NM_005465.7(AKT3):c.1252-20_1252-19del
NM_005465.7(AKT3):c.1258C>T (p.Pro420Ser)
NM_005465.7(AKT3):c.1271C>T (p.Pro424Leu)
NM_005465.7(AKT3):c.1276G>C (p.Val426Leu) rs868556430
NM_005465.7(AKT3):c.1342C>A (p.Pro448Thr) rs2148363374
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005465.7(AKT3):c.1397C>T (p.Pro466Leu) rs1669592664
NM_005465.7(AKT3):c.172+13T>A
NM_005465.7(AKT3):c.173-23_173-20del rs773557899
NM_005465.7(AKT3):c.224G>A (p.Arg75Lys) rs1553428545
NM_005465.7(AKT3):c.238A>T (p.Thr80Ser) rs1682656371
NM_005465.7(AKT3):c.273T>C (p.Thr91=) rs1057522821
NM_005465.7(AKT3):c.345G>A (p.Glu115=)
NM_005465.7(AKT3):c.359G>A (p.Ser120Asn)
NM_005465.7(AKT3):c.364A>C (p.Thr122Pro)
NM_005465.7(AKT3):c.365C>G (p.Thr122Ser)
NM_005465.7(AKT3):c.404C>T (p.Ala135Val)
NM_005465.7(AKT3):c.429+15C>T
NM_005465.7(AKT3):c.430-17dup rs780927904
NM_005465.7(AKT3):c.430-19T>C
NM_005465.7(AKT3):c.46+11C>T
NM_005465.7(AKT3):c.46+18C>G
NM_005465.7(AKT3):c.47-4G>A
NM_005465.7(AKT3):c.526A>G (p.Met176Val)
NM_005465.7(AKT3):c.540G>A (p.Lys180=)
NM_005465.7(AKT3):c.548T>C (p.Val183Ala)
NM_005465.7(AKT3):c.562-17C>T
NM_005465.7(AKT3):c.627+7G>A
NM_005465.7(AKT3):c.628-9dup
NM_005465.7(AKT3):c.658C>T (p.Arg220Cys)
NM_005465.7(AKT3):c.682G>A (p.Val228Ile) rs1678068695
NM_005465.7(AKT3):c.685A>C (p.Asn229His) rs530590989
NM_005465.7(AKT3):c.720G>A (p.Glu240=) rs1204640048
NM_005465.7(AKT3):c.752A>G (p.Tyr251Cys) rs766197531
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005465.7(AKT3):c.820-10T>A rs370193515
NM_005465.7(AKT3):c.820-12C>G rs1558618010
NM_005465.7(AKT3):c.933A>G (p.Glu311=)
NM_005465.7(AKT3):c.948+3A>G rs2148488034
NM_005465.7(AKT3):c.948+9C>A rs776361820
NM_005465.7(AKT3):c.948+9C>T
NM_005465.7(AKT3):c.949-18T>C
NM_005465.7(AKT3):c.964G>T (p.Asp322Tyr) rs1064795602
NM_014846.4(WASHC5):c.1005A>G (p.Glu335=)
NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del) rs764020658
NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)
NM_014846.4(WASHC5):c.1074T>C (p.Asn358=)
NM_014846.4(WASHC5):c.1089G>A (p.Leu363=)
NM_014846.4(WASHC5):c.1121G>A (p.Arg374Gln)
NM_014846.4(WASHC5):c.113C>G (p.Ala38Gly)
NM_014846.4(WASHC5):c.1140A>G (p.Thr380=)
NM_014846.4(WASHC5):c.1151-16C>T
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.1163A>G (p.Asn388Ser)
NM_014846.4(WASHC5):c.1166A>G (p.Asn389Ser)
NM_014846.4(WASHC5):c.1172G>A (p.Arg391His)
NM_014846.4(WASHC5):c.117G>A (p.Val39=)
NM_014846.4(WASHC5):c.1188G>C (p.Lys396Asn)
NM_014846.4(WASHC5):c.1205A>G (p.Asp402Gly)
NM_014846.4(WASHC5):c.1278+13G>T
NM_014846.4(WASHC5):c.1341G>A (p.Ser447=)
NM_014846.4(WASHC5):c.1341G>T (p.Ser447=) rs763975296
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=) rs886062653
NM_014846.4(WASHC5):c.1368del (p.Ser458fs)
NM_014846.4(WASHC5):c.1378G>T (p.Val460Leu)
NM_014846.4(WASHC5):c.1409-8A>C rs878854986
NM_014846.4(WASHC5):c.1413C>T (p.Asn471=)
NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter) rs1030054011
NM_014846.4(WASHC5):c.1450T>C (p.Leu484=)
NM_014846.4(WASHC5):c.1473T>C (p.Ser491=)
NM_014846.4(WASHC5):c.1481C>T (p.Ala494Val)
NM_014846.4(WASHC5):c.1504A>T (p.Ile502Leu)
NM_014846.4(WASHC5):c.1522-20A>G
NM_014846.4(WASHC5):c.1543G>C (p.Glu515Gln)
NM_014846.4(WASHC5):c.1557A>G (p.Gln519=) rs1374104992
NM_014846.4(WASHC5):c.1578T>C (p.Asp526=) rs1340926359
NM_014846.4(WASHC5):c.1580C>T (p.Thr527Ile)
NM_014846.4(WASHC5):c.1688+10del rs757113799
NM_014846.4(WASHC5):c.1688+5T>G
NM_014846.4(WASHC5):c.1689-19G>A
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu) rs1816510758
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) rs761801345
NM_014846.4(WASHC5):c.1749A>C (p.Arg583Ser)
NM_014846.4(WASHC5):c.1764+14A>G
NM_014846.4(WASHC5):c.1765-19T>A
NM_014846.4(WASHC5):c.1765-3dup
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014846.4(WASHC5):c.1788C>G (p.Pro596=)
NM_014846.4(WASHC5):c.1850G>T (p.Gly617Val)
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe) rs80338866
NM_014846.4(WASHC5):c.186+1G>C
NM_014846.4(WASHC5):c.186+3A>G
NM_014846.4(WASHC5):c.187-18T>C
NM_014846.4(WASHC5):c.187-6dup rs745362878
NM_014846.4(WASHC5):c.1875+14C>T
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu) rs1586359734
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys) rs768146940
NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)
NM_014846.4(WASHC5):c.1941C>T (p.His647=)
NM_014846.4(WASHC5):c.1948A>G (p.Ile650Val) rs1188960621
NM_014846.4(WASHC5):c.1956G>T (p.Val652=)
NM_014846.4(WASHC5):c.1960A>G (p.Thr654Ala)
NM_014846.4(WASHC5):c.1963C>T (p.Arg655Cys)
NM_014846.4(WASHC5):c.1972A>G (p.Lys658Glu)
NM_014846.4(WASHC5):c.1991A>C (p.Tyr664Ser)
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val) rs763639768
NM_014846.4(WASHC5):c.2014G>A (p.Glu672Lys)
NM_014846.4(WASHC5):c.2016+10C>G rs1260941212
NM_014846.4(WASHC5):c.2017-16T>A
NM_014846.4(WASHC5):c.2017-20C>A rs759179193
NM_014846.4(WASHC5):c.2034T>C (p.His678=)
NM_014846.4(WASHC5):c.204A>G (p.Glu68=)
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=) rs886062652
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) rs397515564
NM_014846.4(WASHC5):c.2090TCA[1] (p.Ile698del) rs1554593551
NM_014846.4(WASHC5):c.2097+3A>G
NM_014846.4(WASHC5):c.2098-5C>G
NM_014846.4(WASHC5):c.2098G>A (p.Val700Met) rs777613204
NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys) rs878854987
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val) rs1586352875
NM_014846.4(WASHC5):c.2190T>C (p.Pro730=) rs955321507
NM_014846.4(WASHC5):c.2199+15_2199+16delinsTG
NM_014846.4(WASHC5):c.2200-18G>A
NM_014846.4(WASHC5):c.2238G>T (p.Ala746=) rs376307168
NM_014846.4(WASHC5):c.2255A>G (p.His752Arg)
NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)
NM_014846.4(WASHC5):c.234G>A (p.Gln78=)
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala) rs1419129064
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met) rs780468544
NM_014846.4(WASHC5):c.2430G>A (p.Lys810=) rs140742485
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn) rs140742485
NM_014846.4(WASHC5):c.2438_2439del (p.Pro813fs)
NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)
NM_014846.4(WASHC5):c.2504+5G>A
NM_014846.4(WASHC5):c.2506A>G (p.Met836Val) rs2130023977
NM_014846.4(WASHC5):c.2521G>C (p.Asp841His) rs2130023882
NM_014846.4(WASHC5):c.2532C>T (p.Asn844=) rs760598224
NM_014846.4(WASHC5):c.2545A>G (p.Met849Val) rs1355658998
NM_014846.4(WASHC5):c.2562A>G (p.Glu854=)
NM_014846.4(WASHC5):c.2566A>G (p.Thr856Ala)
NM_014846.4(WASHC5):c.2572A>G (p.Ser858Gly)
NM_014846.4(WASHC5):c.2595_2599del (p.Gln865fs)
NM_014846.4(WASHC5):c.2635C>A (p.Leu879Ile)
NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)
NM_014846.4(WASHC5):c.2654T>C (p.Val885Ala)
NM_014846.4(WASHC5):c.265A>G (p.Ile89Val)
NM_014846.4(WASHC5):c.2668-18G>A
NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)
NM_014846.4(WASHC5):c.26A>G (p.Asn9Ser)
NM_014846.4(WASHC5):c.2711C>T (p.Thr904Ile)
NM_014846.4(WASHC5):c.2733C>T (p.Thr911=)
NM_014846.4(WASHC5):c.2734C>T (p.Leu912Phe)
NM_014846.4(WASHC5):c.2770+6T>C rs2130019658
NM_014846.4(WASHC5):c.2771-17A>G
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser) rs1815970512
NM_014846.4(WASHC5):c.2794T>A (p.Ser932Thr)
NM_014846.4(WASHC5):c.2833C>G (p.Leu945Val)
NM_014846.4(WASHC5):c.2842A>G (p.Ile948Val)
NM_014846.4(WASHC5):c.2851-18del
NM_014846.4(WASHC5):c.2860A>T (p.Met954Leu)
NM_014846.4(WASHC5):c.2904T>G (p.Ser968=)
NM_014846.4(WASHC5):c.2928G>C (p.Leu976=)
NM_014846.4(WASHC5):c.292G>T (p.Ala98Ser)
NM_014846.4(WASHC5):c.2938C>T (p.Leu980=)
NM_014846.4(WASHC5):c.2949C>T (p.Leu983=)
NM_014846.4(WASHC5):c.2955-7C>T rs767591968
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) rs1554591077
NM_014846.4(WASHC5):c.2973T>G (p.Ile991Met)
NM_014846.4(WASHC5):c.3024_3025del (p.Leu1009fs) rs765926045
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys) rs767608029
NM_014846.4(WASHC5):c.3084+18A>G
NM_014846.4(WASHC5):c.3085-8C>T
NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)
NM_014846.4(WASHC5):c.3144C>T (p.Ile1048=)
NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)
NM_014846.4(WASHC5):c.3165A>G (p.Gln1055=) rs777978845
NM_014846.4(WASHC5):c.3182-16A>G
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu) rs149383757
NM_014846.4(WASHC5):c.3202A>T (p.Thr1068Ser) rs2129964066
NM_014846.4(WASHC5):c.3205G>A (p.Asp1069Asn)
NM_014846.4(WASHC5):c.3207C>A (p.Asp1069Glu)
NM_014846.4(WASHC5):c.3209C>T (p.Pro1070Leu)
NM_014846.4(WASHC5):c.3210G>T (p.Pro1070=) rs200733182
NM_014846.4(WASHC5):c.3214G>A (p.Asp1072Asn)
NM_014846.4(WASHC5):c.3217T>C (p.Trp1073Arg)
NM_014846.4(WASHC5):c.332+11A>G rs755037747
NM_014846.4(WASHC5):c.332+4T>C
NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)
NM_014846.4(WASHC5):c.333-19A>G rs2384916
NM_014846.4(WASHC5):c.333-19A>T
NM_014846.4(WASHC5):c.333-20_333-19inv
NM_014846.4(WASHC5):c.3335+5A>C rs1815562338
NM_014846.4(WASHC5):c.3335+9G>T
NM_014846.4(WASHC5):c.3335G>A (p.Ser1112Asn) rs1324512839
NM_014846.4(WASHC5):c.3375C>T (p.Ala1125=) rs2129947881
NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)
NM_014846.4(WASHC5):c.3424-19_3424-15del
NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)
NM_014846.4(WASHC5):c.350A>G (p.Asn117Ser)
NM_014846.4(WASHC5):c.375C>G (p.Thr125=)
NM_014846.4(WASHC5):c.408A>G (p.Lys136=)
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) rs1563636568
NM_014846.4(WASHC5):c.417+9T>G
NM_014846.4(WASHC5):c.420T>G (p.Cys140Trp)
NM_014846.4(WASHC5):c.445A>G (p.Met149Val) rs1817270519
NM_014846.4(WASHC5):c.450A>G (p.Leu150=) rs778468473
NM_014846.4(WASHC5):c.498G>A (p.Leu166=) rs1586388281
NM_014846.4(WASHC5):c.50G>C (p.Arg17Thr)
NM_014846.4(WASHC5):c.518+13T>C
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) rs1362286755
NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr) rs1817146560
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln) rs1586384678
NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)
NM_014846.4(WASHC5):c.656A>G (p.Glu219Gly)
NM_014846.4(WASHC5):c.666C>T (p.Ile222=) rs367837906
NM_014846.4(WASHC5):c.672G>T (p.Met224Ile)
NM_014846.4(WASHC5):c.683G>A (p.Arg228Gln)
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys) rs1817137048
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) rs1563633906
NM_014846.4(WASHC5):c.711+16A>G
NM_014846.4(WASHC5):c.712-13C>G
NM_014846.4(WASHC5):c.712-15G>A
NM_014846.4(WASHC5):c.712-16C>T
NM_014846.4(WASHC5):c.712-7A>G
NM_014846.4(WASHC5):c.720G>A (p.Ala240=) rs758215702
NM_014846.4(WASHC5):c.733G>C (p.Glu245Gln)
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
NM_014846.4(WASHC5):c.778G>A (p.Val260Met)
NM_014846.4(WASHC5):c.786C>T (p.Leu262=)
NM_014846.4(WASHC5):c.81T>C (p.Ala27=)
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser) rs1020805660
NM_014846.4(WASHC5):c.880A>C (p.Met294Leu) rs755946575
NM_014846.4(WASHC5):c.880A>G (p.Met294Val)
NM_014846.4(WASHC5):c.88T>C (p.Leu30=)
NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter) rs377540152
NM_014846.4(WASHC5):c.925G>A (p.Ala309Thr)
NM_014846.4(WASHC5):c.93A>G (p.Arg31=) rs2130220935
NM_014846.4(WASHC5):c.96C>G (p.Leu32=) rs1060504698
NM_014846.4(WASHC5):c.978+20C>T
NM_014846.4(WASHC5):c.979-6G>A
NM_014846.4(WASHC5):c.990T>C (p.Tyr330=)
NM_015631.6(TCTN3):c.1008C>A (p.Ile336=)
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
NM_015631.6(TCTN3):c.1008C>T (p.Ile336=) rs747888353
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg) rs1206102625
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
NM_015631.6(TCTN3):c.1027T>C (p.Leu343=) rs2097946417
NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
NM_015631.6(TCTN3):c.1059C>A (p.Gly353=)
NM_015631.6(TCTN3):c.1065C>G (p.Ser355=)
NM_015631.6(TCTN3):c.1065C>T (p.Ser355=) rs2139742208
NM_015631.6(TCTN3):c.1068dup (p.Gln357fs)
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg) rs982781639
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
NM_015631.6(TCTN3):c.1096-12del
NM_015631.6(TCTN3):c.1096-17C>G
NM_015631.6(TCTN3):c.1096-17C>T
NM_015631.6(TCTN3):c.1096-5T>G
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro) rs200742071
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
NM_015631.6(TCTN3):c.114G>T (p.Leu38=) rs1027956965
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1164G>C (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1164dup (p.Lys389fs)
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) rs1432135827
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
NM_015631.6(TCTN3):c.1203+18G>A rs1353637039
NM_015631.6(TCTN3):c.1203+20G>A
NM_015631.6(TCTN3):c.1203+5C>T rs2139739478
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
NM_015631.6(TCTN3):c.1204-14C>T
NM_015631.6(TCTN3):c.1206dup (p.Thr403fs)
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe) rs1008019391
NM_015631.6(TCTN3):c.1212C>T (p.Leu404=)
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
NM_015631.6(TCTN3):c.1226del (p.Gly409fs)
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr) rs2139738439
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly) rs2139738378
NM_015631.6(TCTN3):c.1296C>T (p.Leu432=) rs368389310
NM_015631.6(TCTN3):c.1298+12C>T
NM_015631.6(TCTN3):c.1298+8T>C
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr) rs2139738242
NM_015631.6(TCTN3):c.1299-15G>A rs1589614065
NM_015631.6(TCTN3):c.1299-17A>G
NM_015631.6(TCTN3):c.1299-18C>T rs2097944406
NM_015631.6(TCTN3):c.1299-4A>G
NM_015631.6(TCTN3):c.1311A>C (p.Ala437=) rs2139737404
NM_015631.6(TCTN3):c.132C>T (p.Gly44=)
NM_015631.6(TCTN3):c.1347T>A (p.Thr449=)
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe) rs2139737228
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs) rs768525869
NM_015631.6(TCTN3):c.1353T>C (p.His451=)
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)
NM_015631.6(TCTN3):c.1367_1370dup (p.Glu457fs)
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
NM_015631.6(TCTN3):c.138C>T (p.Thr46=) rs887435654
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro) rs1218187792
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg) rs2097944204
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser) rs1190331074
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) rs1589613893
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
NM_015631.6(TCTN3):c.1440C>T (p.His480=) rs753883610
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu) rs2139736784
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys) rs2097942057
NM_015631.6(TCTN3):c.1467T>C (p.Thr489=)
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
NM_015631.6(TCTN3):c.1497G>A (p.Glu499=) rs2139731591
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs) rs2139731384
NM_015631.6(TCTN3):c.1548T>C (p.His516=)
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro) rs765803620
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
NM_015631.6(TCTN3):c.1569A>C (p.Leu523=) rs201367852
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg) rs1165507491
NM_015631.6(TCTN3):c.1590+14C>T
NM_015631.6(TCTN3):c.1590+15A>T rs781078051
NM_015631.6(TCTN3):c.1590+8A>G
NM_015631.6(TCTN3):c.1591-7C>G
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr) rs143735885
NM_015631.6(TCTN3):c.1596T>C (p.Ser532=)
NM_015631.6(TCTN3):c.159G>T (p.Ala53=) rs540555381
NM_015631.6(TCTN3):c.1602A>G (p.Gln534=)
NM_015631.6(TCTN3):c.1608A>G (p.Thr536=)
NM_015631.6(TCTN3):c.162T>A (p.Thr54=)
NM_015631.6(TCTN3):c.162T>C (p.Thr54=)
NM_015631.6(TCTN3):c.1647del (p.Thr550fs) rs2139691832
NM_015631.6(TCTN3):c.1650C>T (p.Thr550=) rs2097923995
NM_015631.6(TCTN3):c.165A>C (p.Ala55=)
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter) rs2139691743
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
NM_015631.6(TCTN3):c.1716C>T (p.Pro572=) rs2097923946
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys) rs1352225292
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) rs1566062590
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
NM_015631.6(TCTN3):c.1758C>T (p.Cys586=)
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys) rs927310199
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg) rs1291662541
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)
NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
NM_015631.6(TCTN3):c.182dup (p.Gly62fs) rs763132585
NM_015631.6(TCTN3):c.18C>G (p.Leu6=) rs879694012
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile) rs2097955954
NM_015631.6(TCTN3):c.198G>A (p.Val66=)
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
NM_015631.6(TCTN3):c.201C>T (p.Val67=)
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015631.6(TCTN3):c.219C>T (p.Pro73=)
NM_015631.6(TCTN3):c.21G>C (p.Ala7=)
NM_015631.6(TCTN3):c.228T>G (p.Pro76=)
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val) rs2139768503
NM_015631.6(TCTN3):c.256+11A>G
NM_015631.6(TCTN3):c.256+14T>C
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
NM_015631.6(TCTN3):c.257-13C>G
NM_015631.6(TCTN3):c.257-13C>T rs768606622
NM_015631.6(TCTN3):c.257-22_257-19del rs1426583967
NM_015631.6(TCTN3):c.25C>T (p.Leu9=)
NM_015631.6(TCTN3):c.261A>G (p.Leu87=)
NM_015631.6(TCTN3):c.264G>T (p.Pro88=)
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015631.6(TCTN3):c.27G>A (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.27G>T (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.28C>T (p.Gln10Ter)
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
NM_015631.6(TCTN3):c.2T>A (p.Met1Lys)
NM_015631.6(TCTN3):c.2T>C (p.Met1Thr)
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu) rs2139767336
NM_015631.6(TCTN3):c.315C>T (p.Cys105=)
NM_015631.6(TCTN3):c.321G>A (p.Arg107=)
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr) rs2139767280
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
NM_015631.6(TCTN3):c.338_341del (p.His113fs) rs761798713
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly) rs2139767099
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser) rs1165732615
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg) rs1005806916
NM_015631.6(TCTN3):c.371_372del (p.Gly124fs)
NM_015631.6(TCTN3):c.380+16C>A
NM_015631.6(TCTN3):c.380+16C>T
NM_015631.6(TCTN3):c.381-13T>A
NM_015631.6(TCTN3):c.381-17C>T rs1317078515
NM_015631.6(TCTN3):c.381-18C>T
NM_015631.6(TCTN3):c.381-9T>C
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg) rs533262975
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
NM_015631.6(TCTN3):c.412_413del (p.Val138fs)
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu) rs1489817091
NM_015631.6(TCTN3):c.435G>A (p.Pro145=) rs769335959
NM_015631.6(TCTN3):c.444A>G (p.Ser148=)
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr) rs2139764940
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
NM_015631.6(TCTN3):c.480T>C (p.Phe160=)
NM_015631.6(TCTN3):c.489T>C (p.His163=)
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala) rs1314557393
NM_015631.6(TCTN3):c.500-14A>T
NM_015631.6(TCTN3):c.500-19del
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
NM_015631.6(TCTN3):c.513T>C (p.Tyr171=) rs2139750906
NM_015631.6(TCTN3):c.51C>G (p.Pro17=) rs1482900802
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn) rs2139769650
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val) rs888815068
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
NM_015631.6(TCTN3):c.57C>T (p.Gly19=)
NM_015631.6(TCTN3):c.585C>T (p.Phe195=)
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu) rs2139750466
NM_015631.6(TCTN3):c.615A>G (p.Pro205=) rs1247615743
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
NM_015631.6(TCTN3):c.627+6C>G
NM_015631.6(TCTN3):c.628-10T>C
NM_015631.6(TCTN3):c.628-12T>C
NM_015631.6(TCTN3):c.628-14T>C
NM_015631.6(TCTN3):c.628-4T>C rs1321301372
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu) rs1406986953
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs) rs749018985
NM_015631.6(TCTN3):c.657C>T (p.Pro219=)
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
NM_015631.6(TCTN3):c.675C>T (p.Ser225=) rs2097949322
NM_015631.6(TCTN3):c.6C>A (p.Arg2=)
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
NM_015631.6(TCTN3):c.710del (p.Gly237fs) rs779729881
NM_015631.6(TCTN3):c.717_718del (p.Cys239_Ala240insTer) rs1276774121
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.735A>G (p.Ala245=) rs2097949239
NM_015631.6(TCTN3):c.736+18G>A
NM_015631.6(TCTN3):c.736+19T>C
NM_015631.6(TCTN3):c.737-18del
NM_015631.6(TCTN3):c.737-1G>C
NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs)
NM_015631.6(TCTN3):c.754del (p.Ser252fs) rs2139749042
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser) rs780304630
NM_015631.6(TCTN3):c.770G>A (p.Arg257His) rs758733887
NM_015631.6(TCTN3):c.774T>C (p.Phe258=)
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
NM_015631.6(TCTN3):c.783C>T (p.Asn261=)
NM_015631.6(TCTN3):c.78C>T (p.Ser26=)
NM_015631.6(TCTN3):c.793dup (p.Ser265fs)
NM_015631.6(TCTN3):c.801C>T (p.Thr267=)
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
NM_015631.6(TCTN3):c.843A>G (p.Thr281=)
NM_015631.6(TCTN3):c.847T>C (p.Leu283=) rs2139748578
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu) rs2139748562
NM_015631.6(TCTN3):c.851dup (p.Val285fs)
NM_015631.6(TCTN3):c.852+4G>A rs2139748541
NM_015631.6(TCTN3):c.852+7G>A rs1275344078
NM_015631.6(TCTN3):c.853-11T>C
NM_015631.6(TCTN3):c.853-2A>G
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu) rs2139747266
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
NM_015631.6(TCTN3):c.888+13T>C
NM_015631.6(TCTN3):c.888+14G>T rs2139747034
NM_015631.6(TCTN3):c.888+18C>A
NM_015631.6(TCTN3):c.888+3A>T
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
NM_015631.6(TCTN3):c.908_911del (p.Leu303fs) rs2139744863
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile) rs1024201294
NM_015631.6(TCTN3):c.920_941del (p.Ala307fs)
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
NM_015631.6(TCTN3):c.934T>C (p.Leu312=)
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala) rs546805063
NM_015631.6(TCTN3):c.960A>G (p.Val320=)
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
NM_015631.6(TCTN3):c.969+17C>T rs2139744560
NM_015631.6(TCTN3):c.969+18A>C
NM_015631.6(TCTN3):c.969+19_969+37del
NM_015631.6(TCTN3):c.970-15C>A rs773472275
NM_015631.6(TCTN3):c.970-15C>G rs773472275
NM_015631.6(TCTN3):c.970-2A>G rs777263669
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys) rs745387147
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu) rs1267152740
NM_015631.6(TCTN3):c.993T>C (p.Asn331=) rs1273105227
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)
NM_016042.4(EXOSC3):c.105C>T (p.Leu35=)
NM_016042.4(EXOSC3):c.112del (p.Glu38fs) rs587780333
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu) rs372128042
NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) rs549030188
NM_016042.4(EXOSC3):c.150G>A (p.Glu50=)
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
NM_016042.4(EXOSC3):c.155del (p.Pro52fs) rs886041316
NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)
NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
NM_016042.4(EXOSC3):c.171T>C (p.Ala57=) rs1589061382
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe) rs749691951
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
NM_016042.4(EXOSC3):c.201C>T (p.Cys67=)
NM_016042.4(EXOSC3):c.21C>A (p.Val7=)
NM_016042.4(EXOSC3):c.21C>G (p.Val7=)
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)
NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)
NM_016042.4(EXOSC3):c.234G>T (p.Leu78=)
NM_016042.4(EXOSC3):c.240C>T (p.Val80=)
NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)
NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)
NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser) rs1404319370
NM_016042.4(EXOSC3):c.261T>A (p.Arg87=) rs1294998925
NM_016042.4(EXOSC3):c.264C>T (p.His88=)
NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)
NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)
NM_016042.4(EXOSC3):c.27T>C (p.Ala9=)
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs) rs672601331
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)
NM_016042.4(EXOSC3):c.324+9G>T
NM_016042.4(EXOSC3):c.325-10C>G
NM_016042.4(EXOSC3):c.325-1G>T
NM_016042.4(EXOSC3):c.325-20C>T
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) rs145622193
NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly) rs2118980284
NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln) rs373193552
NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile) rs1198691735
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg) rs1828647523
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs) rs2118980158
NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)
NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)
NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)
NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)
NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)
NM_016042.4(EXOSC3):c.474+11G>C
NM_016042.4(EXOSC3):c.474+11del
NM_016042.4(EXOSC3):c.474+13G>A
NM_016042.4(EXOSC3):c.474+14C>T
NM_016042.4(EXOSC3):c.474+15C>T
NM_016042.4(EXOSC3):c.474+16T>C
NM_016042.4(EXOSC3):c.474+8C>T
NM_016042.4(EXOSC3):c.474+9G>A
NM_016042.4(EXOSC3):c.475-15T>A
NM_016042.4(EXOSC3):c.475-6T>C
NM_016042.4(EXOSC3):c.475-8_475-6del
NM_016042.4(EXOSC3):c.475-8del
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)
NM_016042.4(EXOSC3):c.537C>T (p.Val179=)
NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)
NM_016042.4(EXOSC3):c.57T>C (p.Ala19=)
NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)
NM_016042.4(EXOSC3):c.591T>G (p.Gly197=) rs753935327
NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)
NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)
NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val) rs754046728
NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)
NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
NM_016042.4(EXOSC3):c.626+11A>G
NM_016042.4(EXOSC3):c.626+15C>G
NM_016042.4(EXOSC3):c.627-12_627-8del rs778480656
NM_016042.4(EXOSC3):c.627-16_627-12del
NM_016042.4(EXOSC3):c.627-18C>A
NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)
NM_016042.4(EXOSC3):c.63C>G (p.Arg21=)
NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)
NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)
NM_016042.4(EXOSC3):c.663G>A (p.Val221=)
NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)
NM_016042.4(EXOSC3):c.66A>G (p.Thr22=)
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
NM_016042.4(EXOSC3):c.69A>G (p.Val23=)
NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)
NM_016042.4(EXOSC3):c.6C>G (p.Ala2=)
NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)
NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val) rs140199968
NM_016042.4(EXOSC3):c.70C>T (p.Leu24=)
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr) rs2118975671
NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser) rs561283125
NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu) rs767942736
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del) rs755175121
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)
NM_016042.4(EXOSC3):c.81G>C (p.Val27=)
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs) rs1828567719
NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)
NM_016464.5(TMEM138):c.105T>C (p.Pro35=) rs1370730016
NM_016464.5(TMEM138):c.128+19T>G
NM_016464.5(TMEM138):c.129-10A>G
NM_016464.5(TMEM138):c.129-10dup rs2135157730
NM_016464.5(TMEM138):c.129-11dup
NM_016464.5(TMEM138):c.129-19C>G rs2135157682
NM_016464.5(TMEM138):c.129-19C>T rs2135157682
NM_016464.5(TMEM138):c.129-3C>T
NM_016464.5(TMEM138):c.12C>T (p.Thr4=) rs376500080
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly) rs1858060748
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
NM_016464.5(TMEM138):c.195C>T (p.Val65=) rs2135158008
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu) rs1858140604
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
NM_016464.5(TMEM138):c.204T>C (p.Ala68=) rs2135158047
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln) rs2135158062
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe) rs1858141854
NM_016464.5(TMEM138):c.227A>G (p.His76Arg) rs1411782602
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
NM_016464.5(TMEM138):c.231G>A (p.Lys77=) rs2135158146
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys) rs2135158354
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.288T>C (p.His96=)
NM_016464.5(TMEM138):c.300+13G>A rs2135158448
NM_016464.5(TMEM138):c.301-12C>T
NM_016464.5(TMEM138):c.301-13A>G
NM_016464.5(TMEM138):c.301-16C>T
NM_016464.5(TMEM138):c.301-18A>G
NM_016464.5(TMEM138):c.303C>T (p.Asn101=) rs2135162983
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs) rs771224190
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu) rs2135163033
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile) rs932618021
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr) rs1350244778
NM_016464.5(TMEM138):c.377-11C>T rs749034092
NM_016464.5(TMEM138):c.377-19T>C
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val) rs1045760713
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile) rs141029883
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu) rs2135165565
NM_016464.5(TMEM138):c.435C>T (p.His145=)
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs) rs890070939
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter) rs1000923142
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys) rs1565076874
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer) rs2135153244
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp) rs1554416156
NM_018718.3(CEP41):c.102C>T (p.Asn34=) rs781793746
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr) rs184146463
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser) rs184146463
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp) rs2117546322
NM_018718.3(CEP41):c.1062C>T (p.Ala354=) rs782552317
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro) rs781878740
NM_018718.3(CEP41):c.1080C>T (p.Arg360=) rs782746850
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup) rs1796754986
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser) rs782211413
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu) rs1797355895
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
NM_018718.3(CEP41):c.145+16G>C
NM_018718.3(CEP41):c.145+16G>T rs2117627031
NM_018718.3(CEP41):c.145+7A>G
NM_018718.3(CEP41):c.146-13C>T rs782677555
NM_018718.3(CEP41):c.146-9A>G rs372039618
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg) rs1797203213
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
NM_018718.3(CEP41):c.208-5A>T
NM_018718.3(CEP41):c.208-6T>C
NM_018718.3(CEP41):c.208-7C>G rs782769113
NM_018718.3(CEP41):c.208-7C>T rs782769113
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
NM_018718.3(CEP41):c.226C>G (p.Leu76Val) rs1797171250
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys) rs1797171055
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro) rs946180222
NM_018718.3(CEP41):c.258G>A (p.Glu86=) rs1309424611
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
NM_018718.3(CEP41):c.277+10del rs782128369
NM_018718.3(CEP41):c.277+17G>A
NM_018718.3(CEP41):c.277G>C (p.Asp93His) rs1797169504
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.278-9A>C
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys) rs2117574982
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr) rs149373377
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala) rs149373377
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn) rs150251054
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
NM_018718.3(CEP41):c.320C>T (p.Ala107Val) rs141025803
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
NM_018718.3(CEP41):c.33+10A>G
NM_018718.3(CEP41):c.33+16C>T
NM_018718.3(CEP41):c.33+20C>A
NM_018718.3(CEP41):c.33+6G>A rs1798137622
NM_018718.3(CEP41):c.33G>A (p.Glu11=) rs2117739865
NM_018718.3(CEP41):c.34-14del
NM_018718.3(CEP41):c.34-17A>G
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg) rs782235279
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr) rs782508627
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln) rs782614895
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.411A>G (p.Ser137=) rs1796949890
NM_018718.3(CEP41):c.422+5T>C
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.423-2A>G rs781815473
NM_018718.3(CEP41):c.423-4G>T rs1554417330
NM_018718.3(CEP41):c.423-9C>G
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn) rs782614635
NM_018718.3(CEP41):c.42G>T (p.Met14Ile) rs1797714880
NM_018718.3(CEP41):c.437T>C (p.Val146Ala) rs1170058733
NM_018718.3(CEP41):c.438T>G (p.Val146=)
NM_018718.3(CEP41):c.468G>A (p.Val156=) rs1796891578
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.477del (p.Glu160fs)
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile) rs2117565108
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser) rs1796890244
NM_018718.3(CEP41):c.513C>T (p.Cys171=) rs922629262
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu) rs782587361
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
NM_018718.3(CEP41):c.574+7G>C
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.575-19C>T
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser) rs201818904
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala) rs1796855782
NM_018718.3(CEP41):c.610A>G (p.Met204Val) rs782188831
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe) rs1796853863
NM_018718.3(CEP41):c.642+5C>T rs2117560304
NM_018718.3(CEP41):c.642T>C (p.Tyr214=) rs1796853773
NM_018718.3(CEP41):c.643-16del rs2117556026
NM_018718.3(CEP41):c.643-7C>G
NM_018718.3(CEP41):c.643-9del
NM_018718.3(CEP41):c.653A>G (p.His218Arg) rs527896814
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg) rs1472855500
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly) rs1796819026
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr) rs2117555473
NM_018718.3(CEP41):c.705G>T (p.Ala235=) rs149052906
NM_018718.3(CEP41):c.717G>T (p.Met239Ile) rs2117555395
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
NM_018718.3(CEP41):c.757+16C>T
NM_018718.3(CEP41):c.757+2T>A
NM_018718.3(CEP41):c.757+5G>A rs909436822
NM_018718.3(CEP41):c.758-14dup rs1156468685
NM_018718.3(CEP41):c.769T>G (p.Leu257Val) rs2117552967
NM_018718.3(CEP41):c.773C>T (p.Ala258Val) rs1050700461
NM_018718.3(CEP41):c.798T>G (p.Ile266Met) rs2117552869
NM_018718.3(CEP41):c.7del (p.Leu3fs) rs1798139951
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile) rs2117552856
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
NM_018718.3(CEP41):c.831C>T (p.Ala277=) rs782120276
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.880del (p.Leu294fs)
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser) rs2117552201
NM_018718.3(CEP41):c.928A>G (p.Ile310Val) rs1308536722
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro) rs2117551648
NM_018718.3(CEP41):c.954A>G (p.Gln318=) rs2117551629
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
NM_018718.3(CEP41):c.97+12T>G
NM_018718.3(CEP41):c.973+16C>A rs2117551370
NM_018718.3(CEP41):c.973+404_1077del rs1796755672
NM_018718.3(CEP41):c.973+8del rs2117551461
NM_018718.3(CEP41):c.974-11G>T
NM_018718.3(CEP41):c.974-14C>T
NM_018718.3(CEP41):c.974-19TCTT[3]
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln) rs782387467
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu) rs782387467
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
NM_018718.3(CEP41):c.98-20A>G
NM_018718.3(CEP41):c.98-2A>G
NM_018718.3(CEP41):c.98-8C>A rs782606521
NM_018718.3(CEP41):c.98-8C>T
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro) rs1796760925
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) rs1437958560
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=) rs757534089
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser) rs1038661281
NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=) rs1669276096
NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=) rs2101075850
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) rs779442399
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) rs1558110707
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro) rs1668897682
NM_022836.4(DCLRE1B):c.190-3C>G rs1242019671
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln) rs776471212
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val) rs761321321
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile) rs755192360
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser) rs2101068175
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe) rs1339289910
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly) rs1333588223
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp) rs369389853
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter) rs138603501
NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=) rs1669111834
NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=) rs2101074559
NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=) rs574323645
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) rs1553260999
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del) rs763030449
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe) rs946912356
NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=) rs532282272
NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=) rs532282272
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His) rs772803140
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg) rs754841219
NM_022914.2(ACD):c.100C>G (p.Arg34Gly)
NM_022914.2(ACD):c.101G>C (p.Arg34Pro)
NM_022914.2(ACD):c.109C>A (p.Arg37Ser)
NM_022914.2(ACD):c.118G>A (p.Ala40Thr)
NM_022914.2(ACD):c.11G>A (p.Arg4His)
NM_022914.2(ACD):c.125C>T (p.Ala42Val)
NM_022914.2(ACD):c.133G>A (p.Val45Ile)
NM_022914.2(ACD):c.133G>T (p.Val45Leu)
NM_022914.2(ACD):c.139delG (p.Arg48Glyfs) rs764120026
NM_022914.2(ACD):c.147C>T (p.Gly49=)
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu)
NM_022914.2(ACD):c.14G>A (p.Cys5Tyr) rs1555542868
NM_022914.2(ACD):c.155delT (p.Leu52Profs)
NM_022914.2(ACD):c.17dup (p.Ser7Glufs)
NM_022914.2(ACD):c.184C>T (p.Leu62Phe)
NM_022914.2(ACD):c.188C>G (p.Pro63Arg)
NM_022914.2(ACD):c.199G>A (p.Gly67Arg)
NM_022914.2(ACD):c.209C>T (p.Ala70Val) rs758189246
NM_022914.2(ACD):c.214G>C (p.Ala72Pro)
NM_022914.2(ACD):c.29C>G (p.Ala10Gly)
NM_022914.2(ACD):c.53C>T (p.Ser18Phe)
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs) rs757084527
NM_022914.2(ACD):c.64G>C (p.Ala22Pro)
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)
NM_022914.2(ACD):c.71G>A (p.Trp24Ter)
NM_022914.2(ACD):c.71_72invGG (p.Trp24Ser)
NM_022914.2(ACD):c.86T>A (p.Leu29Gln)
NM_022914.2(ACD):c.96dup (p.Arg34Profs)
NM_022914.2(ACD):c.98C>A (p.Pro33His)
Single allele

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