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_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.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_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.396-14C>T
|
rs74411816
|
0.00210
|
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_014846.4(WASHC5):c.2771-7T>C
|
rs142685897
|
0.00181
|
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_001368809.2(AMPD2):c.1276-20A>G
|
rs140464475
|
0.00149
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
NM_005465.7(AKT3):c.1359T>C (p.Asp453=)
|
rs142844303
|
0.00141
|
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)
|
rs142507451
|
0.00135
|
NM_005027.4(PIK3R2):c.1416+11C>T
|
rs140187437
|
0.00133
|
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.1528A>T (p.Asn510Tyr)
|
rs35397235
|
0.00126
|
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_001082486.2(ACD):c.132C>T (p.Gly44=)
|
rs138527794
|
0.00102
|
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=)
|
rs114463063
|
0.00101
|
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_001368809.2(AMPD2):c.1408-12C>T
|
rs189047791
|
0.00090
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
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_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_005027.4(PIK3R2):c.1416+15G>A
|
rs202218011
|
0.00076
|
NM_015631.6(TCTN3):c.500-6T>C
|
rs201444392
|
0.00076
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=)
|
rs140686003
|
0.00052
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_005465.7(AKT3):c.285-13C>T
|
rs201603638
|
0.00051
|
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu)
|
rs201029925
|
0.00048
|
NM_005465.7(AKT3):c.807C>T (p.Tyr269=)
|
rs150205993
|
0.00044
|
NM_005027.4(PIK3R2):c.1809-17A>G
|
rs199501065
|
0.00040
|
NM_005465.7(AKT3):c.792C>T (p.Ser264=)
|
rs77764554
|
0.00039
|
NM_014846.4(WASHC5):c.2668-19C>T
|
rs368313044
|
0.00038
|
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.532-18G>A
|
rs41314005
|
0.00032
|
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.889-8G>A
|
rs374331871
|
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_005027.4(PIK3R2):c.323-16_323-15del
|
rs374033727
|
0.00025
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=)
|
rs757521991
|
0.00021
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_003384.3(VRK1):c.710-13C>T
|
rs374386994
|
0.00016
|
NM_014846.4(WASHC5):c.2199+4C>A
|
rs145721086
|
0.00016
|
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_001368809.2(AMPD2):c.1080+9T>C
|
rs202160763
|
0.00010
|
NM_002449.5(MSX2):c.699G>A (p.Ala233=)
|
rs201880865
|
0.00008
|
NM_015631.6(TCTN3):c.933G>T (p.Leu311=)
|
rs371380545
|
0.00008
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=)
|
rs184805842
|
0.00007
|
NM_001368809.2(AMPD2):c.2158-9C>A
|
rs756915998
|
0.00006
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr)
|
rs1041937206
|
0.00005
|
NM_001044385.3(TMEM237):c.274+11A>G
|
rs200487330
|
0.00004
|
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
|
rs544767440
|
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_005027.4(PIK3R2):c.1215C>T (p.Tyr405=)
|
rs200914853
|
0.00004
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001368809.2(AMPD2):c.-52C>G
|
rs570541266
|
0.00003
|
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=)
|
rs546014325
|
0.00003
|
NM_001044385.3(TMEM237):c.74+16A>G
|
rs538615771
|
0.00002
|
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn)
|
rs774502328
|
0.00002
|
NM_005465.7(AKT3):c.1163+16C>T
|
rs781443210
|
0.00002
|
NM_002449.5(MSX2):c.756G>A (p.Val252=)
|
rs542254664
|
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_005465.7(AKT3):c.1044C>T (p.Asn348=)
|
rs199771220
|
0.00001
|
NM_015631.6(TCTN3):c.324C>T (p.Asp108=)
|
rs566756038
|
0.00001
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
NM_001044385.3(TMEM237):c.1159+17del
|
rs766664373
|
|
NM_001044385.3(TMEM237):c.1159+17dup
|
|
|
NM_001044385.3(TMEM237):c.678-20_678-17del
|
rs754336127
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001082486.2(ACD):c.743-3dup
|
rs1369632476
|
|
NM_001368809.2(AMPD2):c.1005T>C (p.His335=)
|
|
|
NM_001368809.2(AMPD2):c.1863-3dup
|
|
|
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)
|
rs553448801
|
|
NM_002449.5(MSX2):c.380-18C>T
|
|
|
NM_002449.5(MSX2):c.444C>T (p.Pro148=)
|
|
|
NM_003384.3(VRK1):c.1160-8del
|
rs2139857568
|
|
NM_003384.3(VRK1):c.161-7dup
|
rs1295596727
|
|
NM_003384.3(VRK1):c.374+7dup
|
|
|
NM_003384.3(VRK1):c.375-14A>G
|
|
|
NM_003384.3(VRK1):c.483+20_483+22del
|
rs566207500
|
|
NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu)
|
|
|
NM_005027.4(PIK3R2):c.1110-16C>T
|
|
|
NM_005027.4(PIK3R2):c.1329C>A (p.Gly443=)
|
rs199931960
|
|
NM_005027.4(PIK3R2):c.1416+14C>T
|
|
|
NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys)
|
|
|
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)
|
|
|
NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His)
|
|
|
NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser)
|
rs769397940
|
|
NM_005027.4(PIK3R2):c.1809-7A>T
|
rs201271257
|
|
NM_005027.4(PIK3R2):c.1809-8dup
|
rs566994275
|
|
NM_005027.4(PIK3R2):c.1845G>A (p.Pro615=)
|
rs201568661
|
|
NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=)
|
rs1258315228
|
|
NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu)
|
|
|
NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys)
|
rs80233027
|
|
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)
|
|
|
NM_005027.4(PIK3R2):c.598+11C>T
|
|
|
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)
|
|
|
NM_005465.7(AKT3):c.1251+15T>C
|
|
|
NM_005465.7(AKT3):c.173-23_173-20del
|
rs773557899
|
|
NM_005465.7(AKT3):c.430-17dup
|
rs780927904
|
|
NM_005465.7(AKT3):c.46+11C>T
|
|
|
NM_005465.7(AKT3):c.628-9dup
|
|
|
NM_014846.4(WASHC5):c.187-6dup
|
rs745362878
|
|
NM_014846.4(WASHC5):c.2851-18del
|
|
|
NM_014846.4(WASHC5):c.333-19A>G
|
rs2384916
|
|
NM_014846.4(WASHC5):c.333-19A>T
|
|
|
NM_014846.4(WASHC5):c.711+16A>G
|
|
|
NM_014846.4(WASHC5):c.720G>A (p.Ala240=)
|
rs758215702
|
|
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu)
|
rs138495428
|
|
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
|
|
|
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
|
|
|
NM_016464.5(TMEM138):c.129-11dup
|
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_018718.3(CEP41):c.575-14del
|
rs144531086
|
|
NM_018718.3(CEP41):c.758-14dup
|
rs1156468685
|
|