NM_000288.4(PEX7):c.340-71G>A
|
rs927181
|
0.98050
|
NM_004385.5(VCAN):c.9882C>T (p.Val3294=)
|
rs308365
|
0.97301
|
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)
|
rs820878
|
0.97243
|
NM_001379500.1(COL18A1):c.107-12592T>C
|
rs914230
|
0.96979
|
NM_000153.4(GALC):c.1698A>T (p.Val566=)
|
rs421466
|
0.95773
|
NM_000153.4(GALC):c.1620A>G (p.Thr540=)
|
rs367327
|
0.95611
|
NM_000153.4(GALC):c.1251+150C>T
|
rs417521
|
0.95597
|
NM_000153.4(GALC):c.1834+5C>G
|
rs448805
|
0.95475
|
NM_000153.4(GALC):c.*989G>A
|
rs370559
|
0.95463
|
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)
|
rs421262
|
0.95462
|
NM_000153.4(GALC):c.1835-79A>G
|
rs417276
|
0.95459
|
NM_000153.4(GALC):c.*627A>G
|
rs413750
|
0.95456
|
NM_000153.4(GALC):c.1339-61C>T
|
rs398343
|
0.95455
|
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
NM_001854.4(COL11A1):c.2295+37A>T
|
rs2622867
|
0.91369
|
NM_000521.4(HEXB):c.558+45G>A
|
rs1665894
|
0.89050
|
NM_130837.3(OPA1):c.1035+4T>C
|
rs166850
|
0.88294
|
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)
|
rs1800431
|
0.87890
|
NM_000520.6(HEXA):c.1518A>G (p.Glu506=)
|
rs4777502
|
0.87885
|
NM_000096.4(CP):c.1632A>T (p.Glu544Asp)
|
rs701753
|
0.86852
|
NM_004183.4(BEST1):c.867+327T>G
|
rs195160
|
0.86046
|
NM_004183.4(BEST1):c.636+44C>T
|
rs195162
|
0.83711
|
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)
|
rs1676486
|
0.81716
|
NM_001844.5(COL2A1):c.-119C>T
|
rs3803182
|
0.79564
|
NM_001844.5(COL2A1):c.654+15T>G
|
rs1034762
|
0.79333
|
NM_022124.6(CDH23):c.*349A>G
|
rs1867978
|
0.77194
|
NM_012338.4(TSPAN12):c.*39C>T
|
rs41622
|
0.76971
|
NM_012338.4(TSPAN12):c.361-34C>T
|
rs7805733
|
0.76668
|
NM_025136.4(OPA3):c.*6790T>C
|
rs10422253
|
0.76137
|
NM_012338.4(TSPAN12):c.765G>T (p.Pro255=)
|
rs41623
|
0.76026
|
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)
|
rs3803183
|
0.75794
|
NM_000520.6(HEXA):c.*589T>G
|
rs11629508
|
0.73205
|
NM_000520.6(HEXA):c.*515G>A
|
rs3087652
|
0.73188
|
NM_012193.4(FZD4):c.*1298C>T
|
rs3802892
|
0.70569
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
NM_025136.4(OPA3):c.*1950G>A
|
rs4404183
|
0.69999
|
NM_152296.5(ATP1A3):c.*39C>G
|
rs919390
|
0.69962
|
NM_025136.4(OPA3):c.*3387G>A
|
rs3760844
|
0.69742
|
NM_025136.4(OPA3):c.*4318T>C
|
rs4802261
|
0.69665
|
NM_004385.5(VCAN):c.4323G>A (p.Gln1441=)
|
rs2548541
|
0.67722
|
NM_025136.4(OPA3):c.*152G>A
|
rs3826861
|
0.66011
|
NM_130837.3(OPA1):c.*1343A>G
|
rs1056366
|
0.65902
|
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)
|
rs1763347
|
0.64340
|
NM_130837.3(OPA1):c.*283A>G
|
rs1061648
|
0.61309
|
NM_000153.4(GALC):c.196-43C>T
|
rs2289511
|
0.59150
|
NM_025136.4(OPA3):c.*6012A>G
|
rs11083772
|
0.57481
|
NM_001854.4(COL11A1):c.2611-19A>C
|
rs11164649
|
0.57301
|
NM_012193.4(FZD4):c.*4664T>C
|
rs713065
|
0.56868
|
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=)
|
rs7216
|
0.56713
|
NM_000521.4(HEXB):c.-126C>T
|
rs71627068
|
0.55186
|
NM_000521.4(HEXB):c.-122del
|
rs70976124
|
0.55177
|
NM_004385.5(VCAN):c.*1429A>G
|
rs11726
|
0.54953
|
NM_130837.3(OPA1):c.*1113C>T
|
rs12630
|
0.54101
|
NM_000288.4(PEX7):c.*306T>G
|
rs1050803
|
0.51106
|
NM_000288.4(PEX7):c.130+48_130+53dup
|
rs11283064
|
0.50803
|
NM_004385.5(VCAN):c.4547A>G (p.Lys1516Arg)
|
rs309559
|
0.50554
|
NM_004385.5(VCAN):c.5808T>C (p.Gly1936=)
|
rs309557
|
0.50487
|
NM_004385.5(VCAN):c.6723A>G (p.Arg2241=)
|
rs160279
|
0.50384
|
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)
|
rs7624750
|
0.50224
|
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)
|
rs9851685
|
0.50117
|
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)
|
rs3753841
|
0.50032
|
NM_000153.4(GALC):c.*723G>A
|
rs412915
|
0.49978
|
NM_000153.4(GALC):c.*626C>T
|
rs432946
|
0.49976
|
NM_000153.4(GALC):c.*1453A>G
|
rs405567
|
0.49973
|
NM_000153.4(GALC):c.1670+60C>T
|
rs366615
|
0.49953
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=)
|
rs2229783
|
0.49335
|
NM_004183.4(BEST1):c.109T>C (p.Leu37=)
|
rs1800007
|
0.48331
|
NM_004183.3(BEST1):c.-221T>C
|
rs972353
|
0.48222
|
NM_001854.4(COL11A1):c.274+42G>C
|
rs11164662
|
0.48053
|
NM_130837.3(OPA1):c.*2092C>T
|
rs1056390
|
0.46950
|
NM_130837.3(OPA1):c.*2391T>C
|
rs11719309
|
0.46817
|
NM_001379500.1(COL18A1):c.*340G>A
|
rs7867
|
0.46140
|
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=)
|
rs1635553
|
0.45566
|
NM_000153.4(GALC):c.*590T>C
|
rs1042029
|
0.45472
|
NM_000153.4(GALC):c.*1186_*1188del
|
rs141199615
|
0.45391
|
NM_000153.4(GALC):c.*1275G>A
|
rs1042042
|
0.45032
|
NM_000153.4(GALC):c.1671-15C>T
|
rs12432149
|
0.45011
|
NM_000153.4(GALC):c.*1588T>G
|
rs17198
|
0.44979
|
NM_000153.4(GALC):c.1911+122C>G
|
rs45567441
|
0.44852
|
NM_000153.4(GALC):c.1911+129G>A
|
rs45626938
|
0.44823
|
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=)
|
rs1050351
|
0.43308
|
NM_001844.5(COL2A1):c.2194-55T>C
|
rs3829737
|
0.43071
|
NM_004183.4(BEST1):c.1608T>C (p.Thr536=)
|
rs1800009
|
0.41922
|
NM_001379500.1(COL18A1):c.*16G>A
|
rs7499
|
0.41352
|
NM_004385.5(VCAN):c.348T>C (p.Thr116=)
|
rs12332199
|
0.40199
|
NM_012062.5(DNM1L):c.1674+36T>A
|
rs4506737
|
0.40113
|
NM_000153.4(GALC):c.1350C>T (p.Ser450=)
|
rs398076
|
0.39907
|
NM_001098.3(ACO2):c.836-54T>C
|
rs203320
|
0.39646
|
NM_001379500.1(COL18A1):c.107-12073A>G
|
rs2236451
|
0.39262
|
NM_004385.5(VCAN):c.5477G>A (p.Arg1826His)
|
rs188703
|
0.38473
|
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=)
|
rs2276454
|
0.37692
|
NM_001098.3(ACO2):c.836-118C>T
|
rs9619974
|
0.36682
|
NM_001098.3(ACO2):c.670C>T (p.Leu224=)
|
rs1799932
|
0.36650
|
NM_130837.3(OPA1):c.*2344A>G
|
rs1056392
|
0.35025
|
NM_002778.4(PSAP):c.1432-22C>T
|
rs885828
|
0.34727
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869
|
0.34207
|
NM_004385.5(VCAN):c.645A>G (p.Val215=)
|
rs4470745
|
0.33601
|
NM_001098.3(ACO2):c.1032+17C>T
|
rs203319
|
0.33591
|
NM_000096.4(CP):c.2662-12T>C
|
rs16861582
|
0.33387
|
NM_001854.4(COL11A1):c.2656-28T>C
|
rs1903787
|
0.32791
|
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=)
|
rs11702425
|
0.32196
|
NM_000096.4(CP):c.2286-15del
|
rs143522213
|
0.30978
|
NM_000153.4(GALC):c.264+108G>A
|
rs2245387
|
0.30074
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_000153.4(GALC):c.984G>A (p.Gln328=)
|
rs12888666
|
0.29819
|
NM_001351132.2(PEX5):c.967-26C>G
|
rs3816424
|
0.29645
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_001098.3(ACO2):c.192A>C (p.Thr64=)
|
rs137831
|
0.29094
|
NM_001854.4(COL11A1):c.3168+41T>C
|
rs1012282
|
0.29091
|
NM_012193.4(FZD4):c.*2971T>C
|
rs10898563
|
0.27626
|
NM_000382.3(ALDH3A2):c.153+39C>T
|
rs4646793
|
0.26984
|
NM_000382.3(ALDH3A2):c.472-56G>A
|
rs2072332
|
0.26925
|
NM_000382.3(ALDH3A2):c.471+31T>C
|
rs1004491
|
0.25856
|
NM_001844.5(COL2A1):c.762+15G>A
|
rs10875716
|
0.25696
|
NM_007055.4(POLR3A):c.*1965A>G
|
rs2241546
|
0.24142
|
NM_001379500.1(COL18A1):c.107-11850G>A
|
rs11702494
|
0.23796
|
NM_000521.4(HEXB):c.300-32C>T
|
rs35711978
|
0.23197
|
NM_001379500.1(COL18A1):c.1674+34A>C
|
rs12482088
|
0.23085
|
NM_004183.4(BEST1):c.1410G>A (p.Thr470=)
|
rs149698
|
0.22214
|
NM_025136.4(OPA3):c.*3874G>A
|
rs62109650
|
0.21272
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_001376.5(DYNC1H1):c.4396-25A>G
|
rs2251644
|
0.20803
|
NM_002778.4(PSAP):c.1431+116C>T
|
rs749823
|
0.20609
|
NM_001376.5(DYNC1H1):c.8344-30G>A
|
rs2180510
|
0.20452
|
NM_001844.5(COL2A1):c.1366-11C>T
|
rs10875714
|
0.20215
|
NM_001844.5(COL2A1):c.504C>A (p.Gly168=)
|
rs3737548
|
0.20086
|
NM_007055.4(POLR3A):c.*1323C>T
|
rs45570840
|
0.19800
|
NM_000096.4(CP):c.*769G>A
|
rs1053669
|
0.19723
|
NM_007055.4(POLR3A):c.*1461A>G
|
rs3088264
|
0.19707
|
NM_001376.5(DYNC1H1):c.1462-41G>A
|
rs2983422
|
0.19200
|
NM_001854.4(COL11A1):c.*1183A>G
|
rs9659030
|
0.19114
|
NM_001379500.1(COL18A1):c.846G>T (p.Thr282=)
|
rs2230688
|
0.17750
|
NM_004385.5(VCAN):c.1283G>A (p.Gly428Asp)
|
rs2287926
|
0.16841
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_004385.5(VCAN):c.*1436C>T
|
rs15071
|
0.16029
|
NM_007055.4(POLR3A):c.*1763G>A
|
rs4979935
|
0.15801
|
NM_004183.4(BEST1):c.1557C>T (p.Ser519=)
|
rs1800008
|
0.15775
|
NM_012062.5(DNM1L):c.252G>A (p.Gly84=)
|
rs2272238
|
0.15635
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_012062.5(DNM1L):c.*21G>C
|
rs1059422
|
0.15548
|
NM_012062.5(DNM1L):c.*22A>T
|
rs3200103
|
0.15544
|
NM_001376.5(DYNC1H1):c.3333+23A>G
|
rs4900529
|
0.15530
|
NM_004183.3(BEST1):c.-329C>T
|
rs972354
|
0.14911
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_012062.5(DNM1L):c.120A>C (p.Ser40=)
|
rs10844308
|
0.14357
|
NM_012062.5(DNM1L):c.918A>G (p.Thr306=)
|
rs10844318
|
0.14349
|
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=)
|
rs12483761
|
0.14219
|
NM_001854.4(COL11A1):c.275-7T>C
|
rs12136865
|
0.14046
|
NM_025136.4(OPA3):c.*5523G>A
|
rs57585727
|
0.13908
|
NM_022124.6(CDH23):c.*204A>G
|
rs2290022
|
0.13799
|
NM_002778.4(PSAP):c.1540-34C>T
|
rs4747202
|
0.13788
|
NM_002778.4(PSAP):c.1005+18C>T
|
rs55829339
|
0.13764
|
NM_004385.5(VCAN):c.*1601T>A
|
rs1050948
|
0.13706
|
NM_000153.4(GALC):c.195+34G>T
|
rs143228205
|
0.13486
|
NM_025136.4(OPA3):c.*638T>A
|
rs150575877
|
0.13416
|
NM_000096.4(CP):c.1632= (p.Glu544=)
|
rs701753
|
0.13148
|
NM_001379500.1(COL18A1):c.1981G>A (p.Val661Ile)
|
rs62000962
|
0.12931
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12866
|
NM_002778.4(PSAP):c.-4C>T
|
rs2070188
|
0.12811
|
NM_001379500.1(COL18A1):c.1275C>T (p.Pro425=)
|
rs1131100
|
0.12789
|
NM_000520.6(HEXA):c.1074-94C>A
|
rs2303449
|
0.12787
|
NM_000520.6(HEXA):c.1074-127A>T
|
rs2303450
|
0.12778
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_001379500.1(COL18A1):c.1290C>T (p.Asp430=)
|
rs1131101
|
0.12488
|
NM_001379500.1(COL18A1):c.1428C>T (p.Phe476=)
|
rs2236467
|
0.12399
|
NM_000153.4(GALC):c.328+19T>A
|
rs74337989
|
0.12002
|
NM_000288.4(PEX7):c.-56C>T
|
rs73777751
|
0.11791
|
NM_002335.4(LRP5):c.1015+15C>T
|
rs201268200
|
0.11677
|
NM_000153.4(GALC):c.753-59C>T
|
rs17687364
|
0.11436
|
NM_000153.4(GALC):c.196-70G>A
|
rs74689143
|
0.11432
|
NM_000153.4(GALC):c.583-56G>A
|
rs79515863
|
0.11428
|
NM_000153.4(GALC):c.582+99C>T
|
rs17798011
|
0.11427
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_000153.4(GALC):c.621+24T>C
|
rs45568734
|
0.11420
|
NM_000153.4(GALC):c.1161+38T>C
|
rs17687109
|
0.11416
|
NM_000153.4(GALC):c.621+63T>A
|
rs17797987
|
0.11416
|
NM_000153.4(GALC):c.621+98T>C
|
rs17797981
|
0.11415
|
NM_025136.4(OPA3):c.*5525C>T
|
rs117230006
|
0.11413
|
NM_000153.4(GALC):c.752+56T>C
|
rs76521220
|
0.11410
|
NM_000153.4(GALC):c.329-35G>A
|
rs77466023
|
0.11380
|
NM_000153.4(GALC):c.42G>C (p.Ala14=)
|
rs112992946
|
0.11300
|
NM_000153.4(GALC):c.61G>C (p.Ala21Pro)
|
rs111887056
|
0.11296
|
NM_000153.4(GALC):c.75C>A (p.Gly25=)
|
rs111976362
|
0.11287
|
NM_025136.4(OPA3):c.*4672G>A
|
rs11669246
|
0.11223
|
NM_025136.4(OPA3):c.*3212G>A
|
rs79317386
|
0.11204
|
NM_001379500.1(COL18A1):c.2683+702G>A
|
rs114832456
|
0.11163
|
NM_000153.4(GALC):c.*1126G>A
|
rs1042035
|
0.11091
|
NM_001854.4(COL11A1):c.660T>C (p.Ile220=)
|
rs71664966
|
0.11088
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_001854.4(COL11A1):c.1998+4T>A
|
rs12136577
|
0.10860
|
NM_130837.3(OPA1):c.*2873A>T
|
rs10419
|
0.10858
|
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
|
rs3736228
|
0.10701
|
NM_004183.4(BEST1):c.219C>A (p.Ile73=)
|
rs1109748
|
0.10271
|
NM_001854.4(COL11A1):c.*105C>T
|
rs1031820
|
0.10018
|
NM_000288.4(PEX7):c.340-103A>G
|
rs2295592
|
0.10001
|
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser)
|
rs2070739
|
0.09896
|
NM_004385.5(VCAN):c.9379+7T>C
|
rs695103
|
0.09623
|
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=)
|
rs13046486
|
0.09402
|
NM_025136.4(OPA3):c.*2485G>A
|
rs8106584
|
0.08922
|
NM_025136.4(OPA3):c.*3722G>A
|
rs73568973
|
0.08874
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu)
|
rs11164663
|
0.08714
|
NM_000096.4(CP):c.394+20C>T
|
rs17847023
|
0.08668
|
NM_001854.4(COL11A1):c.3025-23A>T
|
rs55682104
|
0.07912
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635
|
0.07812
|
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)
|
rs79980197
|
0.07777
|
NM_001379500.1(COL18A1):c.828G>A (p.Ala276=)
|
rs2230686
|
0.07106
|
NM_007055.4(POLR3A):c.3594+11A>C
|
rs10509396
|
0.06976
|
NM_130837.3(OPA1):c.*3027A>G
|
rs56329083
|
0.06966
|
NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
NM_004385.5(VCAN):c.4569A>G (p.Thr1523=)
|
rs16900528
|
0.06757
|
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)
|
rs12483377
|
0.06693
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
NM_002778.4(PSAP):c.909+32G>T
|
rs41307569
|
0.06451
|
NM_025136.3(OPA3):c.-75G>A
|
rs45598532
|
0.06189
|
NM_025136.4(OPA3):c.*577T>C
|
rs112654759
|
0.06094
|
NM_025136.4(OPA3):c.*3878A>G
|
rs79660166
|
0.06091
|
NM_000520.6(HEXA):c.806-48G>T
|
rs73440586
|
0.06050
|
NM_000520.6(HEXA):c.1074-43C>G
|
rs16956759
|
0.06040
|
NM_001854.4(COL11A1):c.*1105C>T
|
rs12073619
|
0.05971
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
NM_007055.4(POLR3A):c.2997G>T (p.Val999=)
|
rs12241228
|
0.05870
|
NM_001844.5(COL2A1):c.*136C>T
|
rs41272777
|
0.05859
|
NM_001379500.1(COL18A1):c.1950G>A (p.Pro650=)
|
rs61731167
|
0.05785
|
NM_001854.4(COL11A1):c.3168+15A>G
|
rs1012281
|
0.05717
|
NM_025136.4(OPA3):c.*272G>A
|
rs7246349
|
0.05540
|
NM_025136.4(OPA3):c.*3531G>T
|
rs112899014
|
0.05413
|
NM_001844.5(COL2A1):c.4075-14C>G
|
rs12721425
|
0.05398
|
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile)
|
rs12721427
|
0.05396
|
NM_004385.5(VCAN):c.9630C>T (p.His3210=)
|
rs16900564
|
0.05374
|
NM_000153.4(GALC):c.*709A>C
|
rs45572135
|
0.05219
|
NM_001844.5(COL2A1):c.2094+7A>G
|
rs17801742
|
0.05167
|
NM_000096.4(CP):c.782-14C>T
|
rs34067682
|
0.05131
|
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)
|
rs41317939
|
0.05124
|
NM_025136.4(OPA3):c.*3038G>A
|
rs73568982
|
0.05112
|
NM_004385.5(VCAN):c.9033C>A (p.Asn3011Lys)
|
rs16900532
|
0.05068
|
NM_000520.6(HEXA):c.570+57G>A
|
rs12440768
|
0.04919
|
NM_001854.4(COL11A1):c.*301A>G
|
rs12731575
|
0.04880
|
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901
|
0.04745
|
NM_001844.5(COL2A1):c.2094+12G>C
|
rs17122510
|
0.04673
|
NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
NM_025136.3(OPA3):c.-86G>A
|
rs73570932
|
0.04481
|
NM_025136.4(OPA3):c.*1387C>T
|
rs73568986
|
0.04457
|
NM_000153.4(GALC):c.1620= (p.Thr540=)
|
rs367327
|
0.04389
|
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=)
|
rs17122498
|
0.04377
|
NM_000520.6(HEXA):c.1331-46G>A
|
rs2303448
|
0.04341
|
NM_025136.4(OPA3):c.*7015G>A
|
rs112948303
|
0.04300
|
NM_000288.4(PEX7):c.803+105A>C
|
rs72985582
|
0.04283
|
NM_000096.4(CP):c.1950A>C (p.Gly650=)
|
rs1053709
|
0.04222
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657
|
0.04171
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_004385.5(VCAN):c.*730A>G
|
rs8061
|
0.03976
|
NM_004183.4(BEST1):c.696C>A (p.Ile232=)
|
rs1805140
|
0.03928
|
NM_000521.4(HEXB):c.-175G>A
|
rs73117116
|
0.03911
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078
|
0.03877
|
NM_007055.4(POLR3A):c.*1448A>G
|
rs78703311
|
0.03839
|
NM_012193.4(FZD4):c.*4765T>C
|
rs72963441
|
0.03760
|
NM_130837.3(OPA1):c.2778+11C>G
|
rs111688935
|
0.03759
|
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp)
|
rs34392760
|
0.03719
|
NM_001376.5(DYNC1H1):c.*232C>T
|
rs17512996
|
0.03685
|
NM_001379500.1(COL18A1):c.*277T>C
|
rs17004784
|
0.03626
|
NM_007055.4(POLR3A):c.2286C>T (p.His762=)
|
rs16935534
|
0.03554
|
NM_007055.4(POLR3A):c.2394T>C (p.Cys798=)
|
rs35536566
|
0.03553
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_007055.4(POLR3A):c.2100C>T (p.Ile700=)
|
rs79793998
|
0.03469
|
NM_002032.3(FTH1):c.*222C>T
|
rs17156609
|
0.03454
|
NM_007055.4(POLR3A):c.240A>C (p.Leu80=)
|
rs12248310
|
0.03445
|
NM_007055.4(POLR3A):c.*1862G>A
|
rs12572507
|
0.03410
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His)
|
rs2230693
|
0.03222
|
NM_007055.4(POLR3A):c.*690C>T
|
rs74451934
|
0.03200
|
NM_130837.3(OPA1):c.1773A>C (p.Ala591=)
|
rs78767626
|
0.03184
|
NM_001379500.1(COL18A1):c.603C>T (p.Ala201=)
|
rs17004776
|
0.03174
|
NM_001379500.1(COL18A1):c.510A>G (p.Ala170=)
|
rs76754353
|
0.03171
|
NM_001379500.1(COL18A1):c.420A>G (p.Thr140=)
|
rs17004775
|
0.03170
|
NM_000153.4(GALC):c.330C>T (p.Asp110=)
|
rs11552556
|
0.03162
|
NM_025136.4(OPA3):c.142+69G>C
|
rs62111684
|
0.03152
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158
|
0.03068
|
NM_007055.4(POLR3A):c.*426C>T
|
rs76696077
|
0.03063
|
NM_007055.4(POLR3A):c.*1680C>G
|
rs80022412
|
0.03062
|
NM_000096.4(CP):c.2991T>C (p.His997=)
|
rs34394958
|
0.03057
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_001376.5(DYNC1H1):c.9469-20A>T
|
rs2720210
|
0.03010
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.03009
|
NM_004385.5(VCAN):c.7030C>T (p.Pro2344Ser)
|
rs61733401
|
0.02963
|
NM_000096.4(CP):c.2554+17G>A
|
rs35593818
|
0.02896
|
NM_004183.4(BEST1):c.1023C>T (p.Pro341=)
|
rs1801390
|
0.02837
|
NM_004385.5(VCAN):c.9075G>A (p.Thr3025=)
|
rs113014073
|
0.02820
|
NM_004385.5(VCAN):c.1043-10A>G
|
rs115912456
|
0.02772
|
NM_004385.5(VCAN):c.1045A>G (p.Lys349Glu)
|
rs61749613
|
0.02772
|
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu)
|
rs820878
|
0.02757
|
NM_001379500.1(COL18A1):c.915G>T (p.Val305=)
|
rs17338853
|
0.02722
|
NM_004385.5(VCAN):c.8090G>A (p.Arg2697His)
|
rs61733389
|
0.02711
|
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=)
|
rs2838952
|
0.02704
|
NM_007055.4(POLR3A):c.*1782G>A
|
rs11817392
|
0.02657
|
NM_007055.4(POLR3A):c.*1589G>A
|
rs16935486
|
0.02655
|
NM_001844.5(COL2A1):c.2625+9C>T
|
rs41272027
|
0.02608
|
NM_000153.4(GALC):c.397T>C (p.Leu133=)
|
rs56194647
|
0.02565
|
NM_001379500.1(COL18A1):c.1221+14T>C
|
rs9976881
|
0.02526
|
NM_001379500.1(COL18A1):c.2277+14G>T
|
rs145217573
|
0.02518
|
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr)
|
rs1805021
|
0.02481
|
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=)
|
rs1793947
|
0.02436
|
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=)
|
rs111841420
|
0.02418
|
NM_130837.3(OPA1):c.629C>T (p.Ala210Val)
|
rs34307082
|
0.02411
|
NM_130837.3(OPA1):c.*2286T>C
|
rs115575058
|
0.02406
|
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly)
|
rs1805020
|
0.02391
|
NM_000330.4(RS1):c.184+35T>C
|
rs6633109
|
0.02347
|
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)
|
rs11544970
|
0.02268
|
NM_001844.5(COL2A1):c.*4C>T
|
rs41272773
|
0.02262
|
NM_025136.4(OPA3):c.-38A>G
|
rs45527139
|
0.02241
|
NM_001854.4(COL11A1):c.1944+11T>C
|
rs71664954
|
0.02235
|
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)
|
rs76708142
|
0.02223
|
NM_025136.4(OPA3):c.*6394G>A
|
rs151030695
|
0.02197
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_002032.3(FTH1):c.*319G>A
|
rs75281081
|
0.02107
|
NM_001854.4(COL11A1):c.-78T>A
|
rs12025921
|
0.02079
|
NM_012193.4(FZD4):c.*5077C>G
|
rs143372848
|
0.02078
|
NM_004385.5(VCAN):c.*31A>G
|
rs17206014
|
0.02076
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.02056
|
NM_001844.5(COL2A1):c.*295C>T
|
rs41272781
|
0.02009
|
NM_001379500.1(COL18A1):c.2728-8G>A
|
rs116618591
|
0.01979
|
NM_000330.4(RS1):c.295A>G (p.Asn99Asp)
|
rs144683916
|
0.01920
|
NM_004385.5(VCAN):c.393C>T (p.Asp131=)
|
rs35042106
|
0.01920
|
NM_001844.5(COL2A1):c.610-7G>A
|
rs7967258
|
0.01915
|
NM_012193.4(FZD4):c.*2G>T
|
rs61749246
|
0.01897
|
NM_004183.4(BEST1):c.201G>C (p.Leu67=)
|
rs1801393
|
0.01850
|
NM_004385.5(VCAN):c.426G>A (p.Thr142=)
|
rs35031282
|
0.01806
|
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=)
|
rs35004053
|
0.01800
|
NM_000153.4(GALC):c.1072C>T (p.Leu358=)
|
rs74073730
|
0.01792
|
NM_004183.4(BEST1):c.618G>A (p.Leu206=)
|
rs62641693
|
0.01704
|
NM_025136.4(OPA3):c.*3972C>T
|
rs147972697
|
0.01701
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_001376.5(DYNC1H1):c.3960+16G>A
|
rs11850726
|
0.01643
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met)
|
rs56214655
|
0.01630
|
NM_025136.4(OPA3):c.*7085A>G
|
rs67373144
|
0.01608
|
NM_012193.4(FZD4):c.*3700A>G
|
rs115341334
|
0.01592
|
NM_012193.4(FZD4):c.*4196A>G
|
rs138561450
|
0.01587
|
NM_012193.4(FZD4):c.*5368C>T
|
rs79807722
|
0.01583
|
NM_001854.4(COL11A1):c.651+16A>G
|
rs116303092
|
0.01555
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_012193.4(FZD4):c.*3574C>T
|
rs78806773
|
0.01478
|
NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=)
|
rs11544971
|
0.01462
|
NM_025136.4(OPA3):c.*6275T>C
|
rs74689727
|
0.01461
|
NM_000096.4(CP):c.1099C>T (p.Arg367Cys)
|
rs34624984
|
0.01447
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
NM_000096.4(CP):c.1209-15T>A
|
rs35465173
|
0.01446
|
NM_002778.4(PSAP):c.*775G>A
|
rs79662404
|
0.01440
|
NM_012193.4(FZD4):c.*1932G>C
|
rs77424184
|
0.01431
|
NM_012193.4(FZD4):c.502C>T (p.Pro168Ser)
|
rs61735303
|
0.01408
|
NM_001854.4(COL11A1):c.2611-4C>T
|
rs79505593
|
0.01381
|
NM_001844.5(COL2A1):c.1266+7G>A
|
rs41317915
|
0.01359
|
NM_014249.4(NR2E3):c.505C>T (p.Leu169=)
|
rs1805022
|
0.01351
|
NM_001379500.1(COL18A1):c.1509C>T (p.Gly503=)
|
rs112723616
|
0.01339
|
NM_004385.5(VCAN):c.5155A>T (p.Thr1719Ser)
|
rs113965318
|
0.01319
|
NM_004385.5(VCAN):c.5576C>A (p.Ala1859Glu)
|
rs34050047
|
0.01316
|
NM_007055.4(POLR3A):c.*1853C>T
|
rs11002351
|
0.01315
|
NM_004385.5(VCAN):c.*1603T>C
|
rs10233
|
0.01297
|
NM_152296.5(ATP1A3):c.*106T>C
|
rs180885057
|
0.01288
|
NM_004385.5(VCAN):c.6123C>T (p.Ile2041=)
|
rs113659987
|
0.01282
|
NM_004385.5(VCAN):c.6237G>A (p.Lys2079=)
|
rs80200229
|
0.01278
|
NM_012193.4(FZD4):c.*203A>G
|
rs3740661
|
0.01278
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=)
|
rs61733017
|
0.01238
|
NM_004385.5(VCAN):c.8622G>A (p.Ala2874=)
|
rs3096171
|
0.01237
|
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser)
|
rs61735304
|
0.01236
|
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)
|
rs115977487
|
0.01228
|
NM_025136.4(OPA3):c.*1340C>T
|
rs12104391
|
0.01224
|
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)
|
rs1793940
|
0.01213
|
NM_002778.4(PSAP):c.-10A>G
|
rs76455588
|
0.01197
|
NM_025136.4(OPA3):c.*2469G>A
|
rs115566341
|
0.01165
|
NM_012193.4(FZD4):c.*4775C>T
|
rs61903831
|
0.01158
|
NM_001379500.1(COL18A1):c.1009G>A (p.Gly337Ser)
|
rs76547444
|
0.01152
|
NM_025136.4(OPA3):c.*1760C>T
|
rs75401979
|
0.01143
|
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val)
|
rs75824519
|
0.01140
|
NM_001379500.1(COL18A1):c.126G>A (p.Val42=)
|
rs115800039
|
0.01130
|
NM_012193.4(FZD4):c.*2660C>T
|
rs11234890
|
0.01129
|
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp)
|
rs76658745
|
0.01115
|
NM_025136.4(OPA3):c.*4794C>T
|
rs114917731
|
0.01114
|
NM_007055.4(POLR3A):c.*1695G>A
|
rs61152426
|
0.01087
|
NM_025136.4(OPA3):c.*1836C>T
|
rs74717111
|
0.01070
|
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=)
|
rs12255950
|
0.01052
|
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)
|
rs41317925
|
0.01027
|
NM_000096.4(CP):c.2286-12T>G
|
rs183671127
|
0.01016
|
NM_004385.5(VCAN):c.899C>T (p.Ser300Leu)
|
rs2652098
|
0.00988
|
NM_004385.5(VCAN):c.4422T>C (p.Thr1474=)
|
rs61733395
|
0.00980
|
NM_025136.4(OPA3):c.*3222C>T
|
rs73568980
|
0.00971
|
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)
|
rs148268937
|
0.00967
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196
|
0.00962
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=)
|
rs74778421
|
0.00956
|
NM_004385.5(VCAN):c.9104C>T (p.Ala3035Val)
|
rs111512368
|
0.00955
|
NM_001379500.1(COL18A1):c.2196G>A (p.Pro732=)
|
rs115470104
|
0.00930
|
NM_004385.5(VCAN):c.*1678G>T
|
rs10411
|
0.00929
|
NM_130837.3(OPA1):c.*2408A>G
|
rs73069788
|
0.00927
|
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)
|
rs77499935
|
0.00923
|
NM_001854.4(COL11A1):c.4140+10A>T
|
rs187171126
|
0.00906
|
NM_004385.5(VCAN):c.2065A>G (p.Thr689Ala)
|
rs61754531
|
0.00895
|
NM_002778.4(PSAP):c.78C>T (p.Thr26=)
|
rs74145688
|
0.00850
|
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=)
|
rs61754536
|
0.00819
|
NM_025136.4(OPA3):c.*6294A>C
|
rs114655581
|
0.00810
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=)
|
rs35272495
|
0.00802
|
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met)
|
rs116111018
|
0.00795
|
NM_004385.5(VCAN):c.2378T>C (p.Leu793Ser)
|
rs76165877
|
0.00793
|
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)
|
rs114389264
|
0.00778
|
NM_000382.3(ALDH3A2):c.*36G>A
|
rs138462610
|
0.00775
|
NM_012193.4(FZD4):c.*2581G>T
|
rs60226660
|
0.00774
|
NM_012338.4(TSPAN12):c.360+9A>G
|
rs116938497
|
0.00772
|
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054
|
0.00771
|
NM_000153.4(GALC):c.*395C>T
|
rs3850376
|
0.00770
|
NM_012193.4(FZD4):c.*2542T>C
|
rs115557428
|
0.00769
|
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_002335.4(LRP5):c.687-17C>T
|
rs186410639
|
0.00751
|
NM_130837.3(OPA1):c.2973G>A (p.Ala991=)
|
rs117475774
|
0.00742
|
NM_007055.4(POLR3A):c.*1152G>A
|
rs143418325
|
0.00728
|
NM_007055.4(POLR3A):c.3594+15G>A
|
rs116003372
|
0.00728
|
NM_001844.5(COL2A1):c.708+8C>T
|
rs41317893
|
0.00720
|
NM_025136.4(OPA3):c.*1855T>C
|
rs146599259
|
0.00697
|
NM_000330.4(RS1):c.523-10A>C
|
rs142428831
|
0.00691
|
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile)
|
rs1805023
|
0.00690
|
NM_130837.3(OPA1):c.*623G>A
|
rs146468889
|
0.00689
|
NM_001376.5(DYNC1H1):c.5433+17dup
|
rs140185574
|
0.00680
|
NM_025136.4(OPA3):c.*5905G>A
|
rs116705343
|
0.00675
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_130837.3(OPA1):c.*1031A>T
|
rs114606850
|
0.00670
|
NM_012193.4(FZD4):c.*5451G>A
|
rs58750277
|
0.00668
|
NM_025136.4(OPA3):c.*6767G>A
|
rs142898530
|
0.00668
|
NM_012193.4(FZD4):c.*827A>G
|
rs61088092
|
0.00664
|
NM_000153.4(GALC):c.1788C>T (p.Phe596=)
|
rs115018138
|
0.00658
|
NM_001376.5(DYNC1H1):c.13516-16C>T
|
rs28669726
|
0.00656
|
NM_000153.4(GALC):c.195+10A>G
|
rs191767015
|
0.00653
|
NM_007055.4(POLR3A):c.3279C>T (p.Asp1093=)
|
rs77540138
|
0.00650
|
NM_012193.4(FZD4):c.*3402G>T
|
rs139460265
|
0.00650
|
NM_001379500.1(COL18A1):c.*6G>A
|
rs138930698
|
0.00643
|
NM_012193.4(FZD4):c.*4335T>C
|
rs141874425
|
0.00612
|
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=)
|
rs147591223
|
0.00606
|
NM_000096.4(CP):c.669G>C (p.Val223=)
|
rs35438054
|
0.00599
|
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)
|
rs146253630
|
0.00599
|
NM_012193.4(FZD4):c.*2101C>G
|
rs77034986
|
0.00599
|
NM_004385.5(VCAN):c.2887C>T (p.Pro963Ser)
|
rs76914270
|
0.00597
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
NM_001379500.1(COL18A1):c.612C>T (p.Phe204=)
|
rs373748503
|
0.00581
|
NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_012193.4(FZD4):c.*764T>C
|
rs145679440
|
0.00573
|
NM_000521.4(HEXB):c.276C>T (p.Thr92=)
|
rs140509633
|
0.00569
|
NM_000096.4(CP):c.*474T>C
|
rs34936395
|
0.00559
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090
|
0.00548
|
NM_025136.4(OPA3):c.*362T>C
|
rs73942919
|
0.00539
|
NM_004385.5(VCAN):c.2875A>T (p.Ser959Cys)
|
rs78164236
|
0.00525
|
NM_025136.4(OPA3):c.*6442A>G
|
rs76825983
|
0.00518
|
NM_001376.5(DYNC1H1):c.12684+14A>G
|
rs200392758
|
0.00502
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=)
|
rs16935497
|
0.00487
|
NM_000096.4(CP):c.1275T>C (p.Tyr425=)
|
rs34237139
|
0.00484
|
NM_025136.4(OPA3):c.*1642A>G
|
rs144894771
|
0.00484
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_001379500.1(COL18A1):c.1390G>A (p.Asp464Asn)
|
rs61738822
|
0.00478
|
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)
|
rs201574732
|
0.00477
|
NM_001379500.1(COL18A1):c.1143G>A (p.Ala381=)
|
rs2230689
|
0.00474
|
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=)
|
rs1793948
|
0.00473
|
NM_000330.4(RS1):c.258G>A (p.Pro86=)
|
rs147290350
|
0.00472
|
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys)
|
rs146403122
|
0.00472
|
NM_000096.4(CP):c.1349-13T>C
|
rs17847017
|
0.00469
|
NM_000096.4(CP):c.1348+9T>C
|
rs35272481
|
0.00465
|
NM_025136.4(OPA3):c.*4954C>T
|
rs146646433
|
0.00462
|
NM_025136.4(OPA3):c.*6208C>T
|
rs139798464
|
0.00458
|
NM_004385.5(VCAN):c.*1614G>T
|
rs145490018
|
0.00455
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437
|
0.00449
|
NM_025136.4(OPA3):c.*398G>T
|
rs183851663
|
0.00449
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082
|
0.00448
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00447
|
NM_001376.5(DYNC1H1):c.-53G>A
|
rs2273436
|
0.00446
|
NM_001376.5(DYNC1H1):c.-5A>G
|
rs17511858
|
0.00446
|
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=)
|
rs116197727
|
0.00444
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_000096.4(CP):c.2525A>G (p.Glu842Gly)
|
rs149858116
|
0.00437
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
NM_000153.4(GALC):c.-66G>T
|
rs146439771
|
0.00434
|
NM_007055.4(POLR3A):c.*994C>T
|
rs148339082
|
0.00428
|
NM_025136.4(OPA3):c.*3117C>T
|
rs569595277
|
0.00427
|
NM_130837.3(OPA1):c.*220A>G
|
rs76421015
|
0.00427
|
NM_012338.4(TSPAN12):c.*1270T>G
|
rs147549883
|
0.00424
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
NM_014249.4(NR2E3):c.245+8C>T
|
rs9920371
|
0.00409
|
NM_004385.5(VCAN):c.*1652G>C
|
rs148439157
|
0.00406
|
NM_007055.4(POLR3A):c.*673A>G
|
rs150842225
|
0.00405
|
NM_007055.4(POLR3A):c.*1718G>C
|
rs144088118
|
0.00404
|
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys)
|
rs114768494
|
0.00403
|
NM_012193.4(FZD4):c.*947G>A
|
rs141895567
|
0.00396
|
NM_007055.4(POLR3A):c.2247+8C>T
|
rs147475356
|
0.00385
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00381
|
NM_014249.4(NR2E3):c.1005C>A (p.Gly335=)
|
rs142621527
|
0.00379
|
NM_007055.4(POLR3A):c.*345A>C
|
rs74538796
|
0.00371
|
NM_000153.4(GALC):c.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
NM_025136.4(OPA3):c.*2101A>T
|
rs139606810
|
0.00363
|
NM_025136.4(OPA3):c.*6101A>G
|
rs187296782
|
0.00363
|
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=)
|
rs150900416
|
0.00357
|
NM_014249.4(NR2E3):c.349+8G>A
|
rs112520386
|
0.00344
|
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=)
|
rs75075497
|
0.00332
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650
|
0.00332
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317
|
0.00322
|
NM_000153.4(GALC):c.1236T>A (p.Val412=)
|
rs112531377
|
0.00321
|
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly)
|
rs61749614
|
0.00315
|
NM_025136.4(OPA3):c.*80G>T
|
rs540023428
|
0.00315
|
NM_000330.4(RS1):c.76G>A (p.Glu26Lys)
|
rs140983930
|
0.00308
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=)
|
rs35648048
|
0.00302
|
NM_000153.4(GALC):c.1670+19A>T
|
rs141839955
|
0.00298
|
NM_000096.4(CP):c.2878+12T>G
|
rs35848147
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)
|
rs1049882
|
0.00284
|
NM_012193.4(FZD4):c.*4883G>T
|
rs147967476
|
0.00280
|
NM_152296.5(ATP1A3):c.2819+20G>A
|
rs148592392
|
0.00279
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_000096.4(CP):c.394+19G>A
|
rs188121726
|
0.00272
|
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn)
|
rs143368552
|
0.00271
|
NM_025136.4(OPA3):c.*5944G>A
|
rs190885103
|
0.00271
|
NM_000153.4(GALC):c.913A>G (p.Ile305Val)
|
rs74887188
|
0.00270
|
NM_004385.5(VCAN):c.9234G>A (p.Glu3078=)
|
rs139453864
|
0.00270
|
NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser)
|
rs753363173
|
0.00267
|
NM_012193.4(FZD4):c.*2639A>G
|
rs145929150
|
0.00265
|
NM_004385.5(VCAN):c.*1031T>C
|
rs548595991
|
0.00264
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
NM_000153.4(GALC):c.-463C>T
|
rs181956126
|
0.00254
|
NM_004385.5(VCAN):c.574G>A (p.Gly192Arg)
|
rs141008923
|
0.00245
|
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=)
|
rs145374789
|
0.00243
|
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)
|
rs35331711
|
0.00242
|
NM_152296.5(ATP1A3):c.2921+11C>T
|
rs190570469
|
0.00230
|
NM_025136.4(OPA3):c.*6554G>A
|
rs184177890
|
0.00229
|
NM_130837.3(OPA1):c.1342A>C (p.Arg448=)
|
rs149752576
|
0.00229
|
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)
|
rs75414918
|
0.00229
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_004385.5(VCAN):c.5750A>T (p.Tyr1917Phe)
|
rs141477510
|
0.00225
|
NM_007055.4(POLR3A):c.621G>A (p.Val207=)
|
rs149192341
|
0.00223
|
NM_004385.5(VCAN):c.2159T>C (p.Val720Ala)
|
rs76418670
|
0.00222
|
NM_025136.4(OPA3):c.*540G>T
|
rs149360920
|
0.00220
|
NM_152296.5(ATP1A3):c.1944-20G>T
|
rs200665663
|
0.00216
|
NM_000096.4(CP):c.993T>C (p.Pro331=)
|
rs17847025
|
0.00213
|
NM_130837.3(OPA1):c.321G>A (p.Ser107=)
|
rs117888848
|
0.00212
|
NM_130837.3(OPA1):c.*376A>G
|
rs142349183
|
0.00211
|
NM_000153.4(GALC):c.-318T>C
|
rs556647825
|
0.00210
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_000153.4(GALC):c.195+19G>A
|
rs189853941
|
0.00198
|
NM_000153.4(GALC):c.1632T>C (p.Asp544=)
|
rs9672064
|
0.00196
|
NM_001376.5(DYNC1H1):c.10414-13G>A
|
rs17541421
|
0.00190
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_000096.4(CP):c.2793A>G (p.Leu931=)
|
rs34987997
|
0.00186
|
NM_025136.3(OPA3):c.-113T>C
|
rs139731330
|
0.00185
|
NM_025136.4(OPA3):c.*422C>T
|
rs116977551
|
0.00184
|
NM_001376.5(DYNC1H1):c.12513+10T>G
|
rs17512839
|
0.00183
|
NM_004385.5(VCAN):c.7551C>T (p.Asp2517=)
|
rs77870162
|
0.00182
|
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=)
|
rs17540624
|
0.00177
|
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=)
|
rs146199765
|
0.00177
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_012193.4(FZD4):c.-262C>T
|
rs568903306
|
0.00168
|
NM_000520.6(HEXA):c.1146+8G>A
|
rs201453018
|
0.00167
|
NM_000520.6(HEXA):c.254-33G>A
|
rs186468379
|
0.00164
|
NM_004385.5(VCAN):c.*910A>C
|
rs201146484
|
0.00164
|
NM_004385.5(VCAN):c.7743T>C (p.Asp2581=)
|
rs75771891
|
0.00160
|
NM_025136.4(OPA3):c.537A>G (p.Lys179=)
|
rs140105522
|
0.00158
|
NM_025136.4(OPA3):c.*2008C>T
|
rs144432336
|
0.00156
|
NM_025136.4(OPA3):c.*3360G>A
|
rs545764728
|
0.00156
|
NM_000096.4(CP):c.347C>A (p.Pro116His)
|
rs73866999
|
0.00150
|
NM_012338.4(TSPAN12):c.*1139A>T
|
rs192303288
|
0.00150
|
NM_025136.4(OPA3):c.*5565C>T
|
rs145816878
|
0.00149
|
NM_152296.5(ATP1A3):c.1943+12A>T
|
rs201197776
|
0.00146
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00140
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510
|
0.00132
|
NM_015560.2(OPA1):c.-172T>A
|
rs146295726
|
0.00129
|
NM_012338.4(TSPAN12):c.*334A>T
|
rs545129654
|
0.00128
|
NM_025136.4(OPA3):c.*3884G>A
|
rs187028696
|
0.00128
|
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)
|
rs114021657
|
0.00125
|
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)
|
rs17541165
|
0.00125
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468
|
0.00123
|
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)
|
rs151103940
|
0.00116
|
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=)
|
rs17512877
|
0.00110
|
NM_001376.5(DYNC1H1):c.4185+20C>T
|
rs74948967
|
0.00110
|
NM_130837.3(OPA1):c.2880A>G (p.Arg960=)
|
rs144898877
|
0.00109
|
NM_001379500.1(COL18A1):c.*918C>T
|
rs117981301
|
0.00108
|
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)
|
rs143547136
|
0.00108
|
NM_000520.6(HEXA):c.69C>G (p.Leu23=)
|
rs143554538
|
0.00107
|
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=)
|
rs182767009
|
0.00103
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_001376.5(DYNC1H1):c.3157-11T>C
|
rs367593677
|
0.00103
|
NM_025136.4(OPA3):c.*6688G>A
|
rs181576269
|
0.00102
|
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly)
|
rs147190807
|
0.00099
|
NM_004385.5(VCAN):c.*961T>C
|
rs531984651
|
0.00097
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_001376.5(DYNC1H1):c.8637+12G>A
|
rs17512551
|
0.00096
|
NM_025136.4(OPA3):c.*2518A>G
|
rs565012397
|
0.00096
|
NM_130837.3(OPA1):c.*2993C>A
|
rs143991575
|
0.00094
|
NM_130837.3(OPA1):c.949-11A>C
|
rs376681712
|
0.00094
|
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=)
|
rs151064520
|
0.00093
|
NM_025136.4(OPA3):c.*4949G>A
|
rs544881797
|
0.00092
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638
|
0.00088
|
NM_004183.4(BEST1):c.482-15C>T
|
rs201010315
|
0.00088
|
NM_004385.5(VCAN):c.2668G>T (p.Gly890Cys)
|
rs146527005
|
0.00088
|
NM_025136.4(OPA3):c.*1238G>A
|
rs187216413
|
0.00088
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=)
|
rs143258359
|
0.00083
|
NM_002335.4(LRP5):c.2544G>A (p.Pro848=)
|
rs148271293
|
0.00083
|
NM_014249.4(NR2E3):c.900G>A (p.Thr300=)
|
rs184906734
|
0.00083
|
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=)
|
rs113909283
|
0.00080
|
NM_012338.4(TSPAN12):c.367G>C (p.Val123Leu)
|
rs145676655
|
0.00079
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=)
|
rs34013442
|
0.00078
|
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=)
|
rs111459275
|
0.00075
|
NM_012193.4(FZD4):c.*3639A>G
|
rs577322047
|
0.00073
|
NM_152296.5(ATP1A3):c.*315G>A
|
rs571857150
|
0.00073
|
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)
|
rs146630369
|
0.00072
|
NM_004385.5(VCAN):c.*18A>G
|
rs187567161
|
0.00071
|
NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr)
|
rs146560021
|
0.00071
|
NM_012338.4(TSPAN12):c.*998G>A
|
rs182626886
|
0.00069
|
NM_001376.5(DYNC1H1):c.12684+19A>G
|
rs377124918
|
0.00068
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
NM_004385.5(VCAN):c.854C>T (p.Ala285Val)
|
rs144939909
|
0.00066
|
NM_025136.4(OPA3):c.*698G>A
|
rs561748985
|
0.00065
|
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=)
|
rs141421692
|
0.00065
|
NM_000096.4(CP):c.2878+14T>C
|
rs75520320
|
0.00063
|
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=)
|
rs144359313
|
0.00063
|
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile)
|
rs1805025
|
0.00063
|
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)
|
rs146053862
|
0.00061
|
NM_001376.5(DYNC1H1):c.12903-14C>T
|
rs139935428
|
0.00060
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095
|
0.00059
|
NM_001376.5(DYNC1H1):c.5050-15T>C
|
rs190979027
|
0.00059
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)
|
rs35012272
|
0.00058
|
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)
|
rs149600313
|
0.00058
|
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=)
|
rs138887857
|
0.00056
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=)
|
rs145405293
|
0.00052
|
NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu)
|
rs148104757
|
0.00051
|
NM_004385.5(VCAN):c.591C>T (p.Asp197=)
|
rs148875090
|
0.00051
|
NM_012193.4(FZD4):c.*3775C>T
|
rs112177728
|
0.00051
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_130837.3(OPA1):c.1302T>G (p.Pro434=)
|
rs139861334
|
0.00050
|
NM_007055.4(POLR3A):c.*1303C>T
|
rs188968443
|
0.00049
|
NM_130837.3(OPA1):c.*1425G>A
|
rs117826024
|
0.00049
|
NM_000096.4(CP):c.2554+18G>A
|
rs201627704
|
0.00046
|
NM_001376.5(DYNC1H1):c.11595+12T>C
|
rs200110362
|
0.00046
|
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=)
|
rs116089522
|
0.00046
|
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=)
|
rs150603103
|
0.00046
|
NM_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=)
|
rs181697853
|
0.00044
|
NM_004385.5(VCAN):c.7489A>G (p.Lys2497Glu)
|
rs140606678
|
0.00044
|
NM_012193.4(FZD4):c.76C>A (p.Gln26Lys)
|
rs140601725
|
0.00044
|
NM_004385.5(VCAN):c.3201G>A (p.Glu1067=)
|
rs201157092
|
0.00043
|
NM_004385.5(VCAN):c.9124G>A (p.Asp3042Asn)
|
rs144214095
|
0.00041
|
NM_004385.5(VCAN):c.7374A>G (p.Thr2458=)
|
rs148715382
|
0.00040
|
NM_012193.4(FZD4):c.*3770A>T
|
rs182049165
|
0.00040
|
NM_025136.4(OPA3):c.*7181G>A
|
rs74253369
|
0.00040
|
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=)
|
rs149526015
|
0.00039
|
NM_004385.5(VCAN):c.4272A>G (p.Pro1424=)
|
rs150960939
|
0.00039
|
NM_130837.3(OPA1):c.2984-4A>G
|
rs184273607
|
0.00039
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
NM_004385.5(VCAN):c.7480G>C (p.Glu2494Gln)
|
rs147255921
|
0.00038
|
NM_004385.5(VCAN):c.9380-4T>A
|
rs139854446
|
0.00038
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734
|
0.00037
|
NM_000153.4(GALC):c.1147A>G (p.Ile383Val)
|
rs199723885
|
0.00036
|
NM_001844.5(COL2A1):c.870+11C>T
|
rs191695664
|
0.00036
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=)
|
rs139070737
|
0.00035
|
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)
|
rs80028865
|
0.00035
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350
|
0.00033
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_014249.4(NR2E3):c.966C>T (p.Cys322=)
|
rs148900690
|
0.00031
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_004385.5(VCAN):c.-119A>C
|
rs557823406
|
0.00030
|
NM_004385.5(VCAN):c.1895C>T (p.Thr632Met)
|
rs143729093
|
0.00030
|
NM_004385.5(VCAN):c.4643C>T (p.Ser1548Leu)
|
rs61754534
|
0.00030
|
NM_000096.4(CP):c.2997C>T (p.His999=)
|
rs147475926
|
0.00029
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
NM_000096.4(CP):c.981G>A (p.Val327=)
|
rs144467178
|
0.00026
|
NM_001376.5(DYNC1H1):c.9774A>G (p.Gln3258=)
|
rs528520653
|
0.00026
|
NM_152296.5(ATP1A3):c.1192+6C>T
|
rs367771319
|
0.00026
|
NM_001376.5(DYNC1H1):c.13515+18G>A
|
rs200633553
|
0.00025
|
NM_004385.5(VCAN):c.9025G>A (p.Glu3009Lys)
|
rs146090207
|
0.00024
|
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)
|
rs200219480
|
0.00023
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_152296.5(ATP1A3):c.1193-4C>G
|
rs200111818
|
0.00023
|
NC_000019.10:g.45529113G>A
|
rs201078416
|
0.00022
|
NM_004183.4(BEST1):c.495G>A (p.Pro165=)
|
rs182941675
|
0.00022
|
NM_004385.5(VCAN):c.9758A>G (p.Asn3253Ser)
|
rs141195210
|
0.00022
|
NM_012193.4(FZD4):c.*1481C>T
|
rs149837228
|
0.00021
|
NM_130837.3(OPA1):c.*2115G>A
|
rs144079165
|
0.00021
|
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)
|
rs375255226
|
0.00021
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_001376.5(DYNC1H1):c.885G>A (p.Pro295=)
|
rs34287672
|
0.00019
|
NM_004385.5(VCAN):c.160C>T (p.Pro54Ser)
|
rs140063016
|
0.00019
|
NM_004385.5(VCAN):c.2315C>G (p.Ala772Gly)
|
rs141007991
|
0.00019
|
NM_004385.5(VCAN):c.2943A>T (p.Thr981=)
|
rs144070403
|
0.00019
|
NM_004385.5(VCAN):c.7715C>T (p.Ser2572Leu)
|
rs149032014
|
0.00019
|
NM_012193.4(FZD4):c.*4518C>G
|
rs542033644
|
0.00019
|
NM_012193.4(FZD4):c.-130C>T
|
rs544568108
|
0.00019
|
NM_012338.4(TSPAN12):c.-43G>A
|
rs377745738
|
0.00019
|
NM_004385.5(VCAN):c.2234A>C (p.Lys745Thr)
|
rs144502710
|
0.00018
|
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
|
rs192742245
|
0.00017
|
NM_004385.5(VCAN):c.6322C>G (p.Gln2108Glu)
|
rs62364883
|
0.00017
|
NM_025136.4(OPA3):c.*5923G>A
|
rs149788703
|
0.00017
|
NM_025136.4(OPA3):c.*6626G>A
|
rs139757997
|
0.00017
|
NM_000096.4(CP):c.457G>A (p.Glu153Lys)
|
rs138646392
|
0.00016
|
NM_000153.4(GALC):c.1251+18A>G
|
rs369997150
|
0.00016
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
NM_001379500.1(COL18A1):c.1683A>G (p.Ala561=)
|
rs75222922
|
0.00016
|
NM_004385.5(VCAN):c.221A>G (p.Asn74Ser)
|
rs144766017
|
0.00016
|
NM_004385.5(VCAN):c.3094C>G (p.Gln1032Glu)
|
rs201255257
|
0.00016
|
NM_012193.4(FZD4):c.*135C>T
|
rs377696818
|
0.00016
|
NM_012193.4(FZD4):c.1405G>A (p.Ala469Thr)
|
rs185157734
|
0.00016
|
NM_152296.5(ATP1A3):c.2419-7C>T
|
rs187436315
|
0.00016
|
NM_152296.5(ATP1A3):c.6+3A>G
|
rs369853936
|
0.00016
|
NM_004183.4(BEST1):c.*45T>C
|
rs201586629
|
0.00015
|
NM_004385.5(VCAN):c.1369G>A (p.Glu457Lys)
|
rs145029761
|
0.00015
|
NM_004385.5(VCAN):c.6127G>A (p.Glu2043Lys)
|
rs138937534
|
0.00015
|
NM_004385.5(VCAN):c.9291G>A (p.Pro3097=)
|
rs375652154
|
0.00015
|
NM_025136.4(OPA3):c.*3442A>G
|
rs138449967
|
0.00015
|
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)
|
rs200214562
|
0.00014
|
NM_004385.5(VCAN):c.157C>T (p.Pro53Ser)
|
rs201466502
|
0.00014
|
NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu)
|
rs144610900
|
0.00014
|
NM_004385.5(VCAN):c.5615C>T (p.Pro1872Leu)
|
rs150017263
|
0.00014
|
NM_004385.5(VCAN):c.7638C>T (p.Asp2546=)
|
rs144914004
|
0.00014
|
NM_004385.5(VCAN):c.7966A>G (p.Thr2656Ala)
|
rs756823982
|
0.00014
|
NM_012193.4(FZD4):c.*4079G>A
|
rs562725038
|
0.00014
|
NM_012193.4(FZD4):c.205C>T (p.His69Tyr)
|
rs80358282
|
0.00014
|
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=)
|
rs199679500
|
0.00013
|
NM_001376.5(DYNC1H1):c.8584G>A (p.Asp2862Asn)
|
rs139461837
|
0.00013
|
NM_004385.5(VCAN):c.7581C>T (p.Phe2527=)
|
rs149880697
|
0.00013
|
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)
|
rs146606627
|
0.00013
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
NM_001844.5(COL2A1):c.147G>A (p.Pro49=)
|
rs372734539
|
0.00012
|
NM_004385.5(VCAN):c.1896G>A (p.Thr632=)
|
rs377633742
|
0.00012
|
NM_004385.5(VCAN):c.2925T>C (p.Leu975=)
|
rs139028655
|
0.00012
|
NM_000096.4(CP):c.3006C>T (p.Ser1002=)
|
rs199877380
|
0.00011
|
NM_001376.5(DYNC1H1):c.13667G>A (p.Cys4556Tyr)
|
rs142519155
|
0.00011
|
NM_001376.5(DYNC1H1):c.257-20A>G
|
rs201905359
|
0.00011
|
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile)
|
rs376456164
|
0.00011
|
NM_004385.5(VCAN):c.5489C>T (p.Ser1830Phe)
|
rs141725839
|
0.00011
|
NM_004385.5(VCAN):c.8089C>T (p.Arg2697Cys)
|
rs146336600
|
0.00011
|
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)
|
rs376960579
|
0.00011
|
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)
|
rs146600566
|
0.00011
|
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)
|
rs142806181
|
0.00011
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
|
rs145487328
|
0.00010
|
NM_004385.5(VCAN):c.*1081C>T
|
rs78087172
|
0.00010
|
NM_004385.5(VCAN):c.2220T>C (p.Ser740=)
|
rs201834775
|
0.00010
|
NM_004385.5(VCAN):c.5190A>G (p.Gly1730=)
|
rs201888251
|
0.00010
|
NM_004385.5(VCAN):c.6649C>T (p.Pro2217Ser)
|
rs139730890
|
0.00010
|
NM_004385.5(VCAN):c.7035G>A (p.Thr2345=)
|
rs200757689
|
0.00010
|
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu)
|
rs201256460
|
0.00010
|
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=)
|
rs369555293
|
0.00010
|
NM_001376.5(DYNC1H1):c.11460+18_11460+57del
|
rs768638049
|
0.00009
|
NM_001376.5(DYNC1H1):c.11691-4G>T
|
rs201810550
|
0.00009
|
NM_001376.5(DYNC1H1):c.256+4C>T
|
rs546058194
|
0.00009
|
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)
|
rs538791873
|
0.00009
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830
|
0.00009
|
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=)
|
rs201720217
|
0.00009
|
NM_004385.5(VCAN):c.2542G>A (p.Glu848Lys)
|
rs188853533
|
0.00009
|
NM_004385.5(VCAN):c.5526C>T (p.Ala1842=)
|
rs150593011
|
0.00009
|
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=)
|
rs143242360
|
0.00009
|
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=)
|
rs2288507
|
0.00009
|
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=)
|
rs372737275
|
0.00009
|
NM_001376.5(DYNC1H1):c.12102+20C>T
|
rs200362531
|
0.00008
|
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)
|
rs147409760
|
0.00008
|
NM_004385.5(VCAN):c.7371C>T (p.Thr2457=)
|
rs199626605
|
0.00008
|
NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=)
|
rs199559258
|
0.00008
|
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=)
|
rs202008601
|
0.00007
|
NM_004385.5(VCAN):c.*218G>A
|
rs532122355
|
0.00007
|
NM_004385.5(VCAN):c.1192G>A (p.Val398Met)
|
rs186214606
|
0.00007
|
NM_004385.5(VCAN):c.9454C>G (p.Leu3152Val)
|
rs183984308
|
0.00007
|
NM_012193.4(FZD4):c.*4618G>A
|
rs147043943
|
0.00007
|
NM_012338.4(TSPAN12):c.*1243A>T
|
rs189221112
|
0.00007
|
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=)
|
rs186453162
|
0.00007
|
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=)
|
rs116979196
|
0.00007
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412
|
0.00006
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469
|
0.00006
|
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377
|
0.00006
|
NM_004385.5(VCAN):c.*1296A>G
|
rs572066915
|
0.00006
|
NM_004385.5(VCAN):c.329T>G (p.Val110Gly)
|
rs750836310
|
0.00006
|
NM_004385.5(VCAN):c.5202G>A (p.Thr1734=)
|
rs138599596
|
0.00006
|
NM_004385.5(VCAN):c.7884C>A (p.Asn2628Lys)
|
rs201327923
|
0.00006
|
NM_012193.4(FZD4):c.*647A>G
|
rs552492300
|
0.00006
|
NM_012193.4(FZD4):c.1009C>A (p.His337Asn)
|
rs146895719
|
0.00006
|
NM_025136.4(OPA3):c.*5277G>A
|
rs535986790
|
0.00006
|
NM_130837.3(OPA1):c.678+13G>C
|
rs561115644
|
0.00006
|
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)
|
rs141412861
|
0.00006
|
NM_000330.4(RS1):c.7C>G (p.Arg3Gly)
|
rs571944937
|
0.00005
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299
|
0.00005
|
NM_001376.5(DYNC1H1):c.13212T>C (p.Asn4404=)
|
rs373496930
|
0.00005
|
NM_001376.5(DYNC1H1):c.13407G>A (p.Val4469=)
|
rs1445271324
|
0.00005
|
NM_001376.5(DYNC1H1):c.6029C>T (p.Pro2010Leu)
|
rs747348966
|
0.00005
|
NM_004385.5(VCAN):c.*672A>G
|
rs532790573
|
0.00005
|
NM_004385.5(VCAN):c.*89A>G
|
rs369600306
|
0.00005
|
NM_012193.4(FZD4):c.*799A>G
|
rs573013571
|
0.00005
|
NM_025136.4(OPA3):c.*7018G>C
|
rs557041940
|
0.00005
|
NM_152296.5(ATP1A3):c.994-4C>G
|
rs373698149
|
0.00005
|
NM_000096.4(CP):c.2662-14T>C
|
rs189155564
|
0.00004
|
NM_000521.4(HEXB):c.1243-6T>C
|
rs759404927
|
0.00004
|
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly)
|
rs751092252
|
0.00004
|
NM_001376.5(DYNC1H1):c.2612A>G (p.His871Arg)
|
rs368026551
|
0.00004
|
NM_001376.5(DYNC1H1):c.5239-12T>C
|
rs377506256
|
0.00004
|
NM_001376.5(DYNC1H1):c.5364C>T (p.Thr1788=)
|
rs748651294
|
0.00004
|
NM_001376.5(DYNC1H1):c.5594A>G (p.Lys1865Arg)
|
rs146678667
|
0.00004
|
NM_001379500.1(COL18A1):c.2032-10G>A
|
rs368213286
|
0.00004
|
NM_004385.5(VCAN):c.8338C>T (p.Leu2780=)
|
rs541755820
|
0.00004
|
NM_004385.5(VCAN):c.8683G>C (p.Asp2895His)
|
rs202198791
|
0.00004
|
NM_004385.5(VCAN):c.9009G>A (p.Thr3003=)
|
rs200462738
|
0.00004
|
NM_004385.5(VCAN):c.9275G>C (p.Arg3092Pro)
|
rs528022086
|
0.00004
|
NM_004385.5(VCAN):c.9619A>G (p.Ile3207Val)
|
rs763005838
|
0.00004
|
NM_012193.4(FZD4):c.*3888G>A
|
rs541479825
|
0.00004
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=)
|
rs180710845
|
0.00004
|
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=)
|
rs199625170
|
0.00004
|
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=)
|
rs145869619
|
0.00004
|
NM_000096.4(CP):c.1038C>T (p.Ala346=)
|
rs146895584
|
0.00003
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
rs17540728
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790
|
0.00003
|
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr)
|
rs748133009
|
0.00003
|
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=)
|
rs373334821
|
0.00003
|
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile)
|
rs561339487
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_002778.4(PSAP):c.336C>T (p.Ser112=)
|
rs370977178
|
0.00003
|
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)
|
rs757536535
|
0.00003
|
NM_004385.5(VCAN):c.1457C>T (p.Ser486Leu)
|
rs186544077
|
0.00003
|
NM_004385.5(VCAN):c.690T>C (p.Tyr230=)
|
rs539798172
|
0.00003
|
NM_004385.5(VCAN):c.6943G>C (p.Val2315Leu)
|
rs3734094
|
0.00003
|
NM_012193.4(FZD4):c.-12C>A
|
rs532417375
|
0.00003
|
NM_025136.4(OPA3):c.*3128C>G
|
rs143702010
|
0.00003
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp)
|
rs1332342693
|
0.00002
|
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
|
rs201971718
|
0.00002
|
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu)
|
rs745510694
|
0.00002
|
NM_001376.5(DYNC1H1):c.3765C>T (p.Thr1255=)
|
rs150953878
|
0.00002
|
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
|
rs776226690
|
0.00002
|
NM_001376.5(DYNC1H1):c.5717-8T>G
|
rs748085549
|
0.00002
|
NM_001376.5(DYNC1H1):c.6660G>A (p.Leu2220=)
|
rs567417919
|
0.00002
|
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys)
|
rs780160519
|
0.00002
|
NM_004385.5(VCAN):c.5681T>C (p.Val1894Ala)
|
rs780104369
|
0.00002
|
NM_004385.5(VCAN):c.7999G>C (p.Gly2667Arg)
|
rs774497812
|
0.00002
|
NM_004385.5(VCAN):c.8063C>T (p.Pro2688Leu)
|
rs755806449
|
0.00002
|
NM_012338.4(TSPAN12):c.484G>A (p.Val162Ile)
|
rs774728139
|
0.00002
|
NM_025136.4(OPA3):c.*1095C>A
|
rs148228876
|
0.00002
|
NM_025136.4(OPA3):c.*4439C>T
|
rs538388889
|
0.00002
|
NM_025136.4(OPA3):c.*5783G>A
|
rs550679720
|
0.00002
|
NM_152296.5(ATP1A3):c.1192+3G>A
|
rs374542368
|
0.00002
|
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=)
|
rs148097195
|
0.00002
|
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)
|
rs200616931
|
0.00002
|
NM_152296.5(ATP1A3):c.741G>C (p.Val247=)
|
rs767234141
|
0.00002
|
NM_000096.4(CP):c.2611G>A (p.Asp871Asn)
|
rs529607771
|
0.00001
|
NM_001376.5(DYNC1H1):c.11749A>C (p.Ser3917Arg)
|
rs201024297
|
0.00001
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293
|
0.00001
|
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
|
rs749297332
|
0.00001
|
NM_001376.5(DYNC1H1):c.13449C>T (p.Ser4483=)
|
rs112444677
|
0.00001
|
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser)
|
rs571005578
|
0.00001
|
NM_001376.5(DYNC1H1):c.270T>C (p.Asp90=)
|
rs760330950
|
0.00001
|
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val)
|
rs141561289
|
0.00001
|
NM_001376.5(DYNC1H1):c.5818-17C>A
|
rs563758908
|
0.00001
|
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
|
rs549582489
|
0.00001
|
NM_001376.5(DYNC1H1):c.7627G>A (p.Gly2543Arg)
|
rs892693926
|
0.00001
|
NM_001379500.1(COL18A1):c.*1129A>C
|
rs576842258
|
0.00001
|
NM_004385.5(VCAN):c.1794G>A (p.Glu598=)
|
rs760822691
|
0.00001
|
NM_004385.5(VCAN):c.3282A>G (p.Pro1094=)
|
rs140613404
|
0.00001
|
NM_004385.5(VCAN):c.7885C>A (p.Leu2629Ile)
|
rs531546493
|
0.00001
|
NM_004385.5(VCAN):c.909C>T (p.Ser303=)
|
rs754375176
|
0.00001
|
NM_012193.4(FZD4):c.*128G>A
|
rs530994733
|
0.00001
|
NM_012193.4(FZD4):c.*2517A>G
|
rs556412849
|
0.00001
|
NM_012193.4(FZD4):c.1440A>G (p.Lys480=)
|
rs751738021
|
0.00001
|
NM_012338.4(TSPAN12):c.-127G>T
|
rs541379054
|
0.00001
|
NM_014249.4(NR2E3):c.864T>A (p.Gly288=)
|
rs537802684
|
0.00001
|
NM_025136.4(OPA3):c.*1052C>T
|
rs539341907
|
0.00001
|
NM_130837.3(OPA1):c.*228A>G
|
rs577816325
|
0.00001
|
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)
|
rs370511776
|
0.00001
|
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=)
|
rs781822752
|
0.00001
|
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=)
|
rs373180830
|
0.00001
|
NM_000096.4(CP):c.*828dup
|
rs35907111
|
|
NM_000096.4(CP):c.1209-11del
|
rs748250466
|
|
NM_000096.4(CP):c.1209-11dup
|
rs748250466
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
NM_000096.4(CP):c.2286-15G>T
|
rs34861155
|
|
NM_000096.4(CP):c.2286-15_2286-14del
|
rs201677287
|
|
NM_000096.4(CP):c.2286-4del
|
rs561633350
|
|
NM_000096.4(CP):c.2554+14C>G
|
rs200965170
|
|
NM_000096.4(CP):c.2554+19dup
|
|
|
NM_000096.4(CP):c.694C>T (p.Leu232=)
|
|
|
NM_000153.4(GALC):c.-287G>A
|
rs73312836
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1162-4dup
|
rs11300320
|
|
NM_000153.4(GALC):c.1339-8dup
|
rs779423756
|
|
NM_000153.4(GALC):c.1671-10dup
|
|
|
NM_000153.4(GALC):c.196-19del
|
|
|
NM_000153.4(GALC):c.196-3del
|
rs561184126
|
|
NM_000153.4(GALC):c.196-3dup
|
rs561184126
|
|
NM_000153.4(GALC):c.196-4_196-3del
|
rs561184126
|
|
NM_000153.4(GALC):c.583-108G>T
|
rs17797993
|
|
NM_000153.4(GALC):c.753-13_753-12dup
|
rs533067313
|
|
NM_000153.4(GALC):c.753-5dup
|
rs533067313
|
|
NM_000153.4(GALC):c.909-3del
|
rs1212915595
|
|
NM_000288.4(PEX7):c.-65A>T
|
rs190537612
|
|
NM_000288.4(PEX7):c.-95T>C
|
rs1321471
|
|
NM_000382.3(ALDH3A2):c.*1256C>G
|
|
|
NM_000382.3(ALDH3A2):c.*1362G>A
|
|
|
NM_000382.3(ALDH3A2):c.*1462G>A
|
|
|
NM_000382.3(ALDH3A2):c.*1609A>G
|
|
|
NM_000382.3(ALDH3A2):c.*1802A>G
|
|
|
NM_000382.3(ALDH3A2):c.*1877CA[1]
|
|
|
NM_000382.3(ALDH3A2):c.*694C>T
|
|
|
NM_000382.3(ALDH3A2):c.*973T>C
|
|
|
NM_000382.3(ALDH3A2):c.-154G>A
|
|
|
NM_000382.3(ALDH3A2):c.1207+130del
|
rs59755039
|
|
NM_000382.3(ALDH3A2):c.681-37_681-30del
|
rs3034928
|
|
NM_000520.6(HEXA):c.1421+13dup
|
rs780193130
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+19del
|
|
|
NM_000521.4(HEXB):c.*82_*83del
|
rs56312827
|
|
NM_000521.4(HEXB):c.1170-11del
|
|
|
NM_000521.4(HEXB):c.1170-11dup
|
|
|
NM_000521.4(HEXB):c.446-16dup
|
|
|
NM_000521.4(HEXB):c.512-112T>G
|
rs1696979
|
|
NM_000784.3(CYP27A1):c.-357dup
|
rs397795841
|
|
NM_000784.4(CYP27A1):c.1017+14del
|
rs372792485
|
|
NM_000784.4(CYP27A1):c.1263+10del
|
rs765426068
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1477-3del
|
rs2105981409
|
|
NM_000784.4(CYP27A1):c.1477-3dup
|
|
|
NM_000784.4(CYP27A1):c.366= (p.Gly122=)
|
rs1051087
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=)
|
rs587778814
|
|
NM_001098.3(ACO2):c.174-52G>T
|
rs2076199
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
NM_001376.5(DYNC1H1):c.11055+22dup
|
rs777865098
|
|
NM_001376.5(DYNC1H1):c.1122T>A (p.Ile374=)
|
rs777210028
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783
|
|
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=)
|
rs114906811
|
|
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
rs143574214
|
|
NM_001376.5(DYNC1H1):c.12355C>A (p.His4119Asn)
|
|
|
NM_001376.5(DYNC1H1):c.12564G>A (p.Ala4188=)
|
rs370064490
|
|
NM_001376.5(DYNC1H1):c.12685-3del
|
rs751203379
|
|
NM_001376.5(DYNC1H1):c.13118G>A (p.Arg4373His)
|
rs1366928812
|
|
NM_001376.5(DYNC1H1):c.13515+17C>G
|
|
|
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.3015+18C>T
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.314T>C (p.Ile105Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3296A>G (p.Lys1099Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3565-12dup
|
|
|
NM_001376.5(DYNC1H1):c.3804+20del
|
|
|
NM_001376.5(DYNC1H1):c.6144A>G (p.Leu2048=)
|
|
|
NM_001376.5(DYNC1H1):c.6222-20C>A
|
rs200368499
|
|
NM_001376.5(DYNC1H1):c.6222-9_6222-7del
|
rs747347010
|
|
NM_001376.5(DYNC1H1):c.6324C>A (p.Ile2108=)
|
|
|
NM_001376.5(DYNC1H1):c.6858-15dup
|
|
|
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
|
rs769311346
|
|
NM_001376.5(DYNC1H1):c.7158G>A (p.Pro2386=)
|
rs773186619
|
|
NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=)
|
rs532073330
|
|
NM_001376.5(DYNC1H1):c.9469-8del
|
|
|
NM_001376.5(DYNC1H1):c.962-15dup
|
rs3830914
|
|
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=)
|
rs2295445
|
|
NM_001376.5(DYNC1H1):c.9643-6C>T
|
|
|
NM_001379500.1(COL18A1):c.*1148_*1149insCA
|
rs78063943
|
|
NM_001379500.1(COL18A1):c.*306G>C
|
rs17004785
|
|
NM_001379500.1(COL18A1):c.*71G>A
|
rs8199
|
|
NM_001379500.1(COL18A1):c.*852G>C
|
rs17004786
|
|
NM_001379500.1(COL18A1):c.1305C>A (p.Gly435=)
|
rs1131102
|
|
NM_001379500.1(COL18A1):c.1312-37G>A
|
rs9979845
|
|
NM_001379500.1(COL18A1):c.1398+7C>G
|
rs74439012
|
|
NM_001379500.1(COL18A1):c.2157+14G>A
|
rs200650755
|
|
NM_001379500.1(COL18A1):c.2157+79dup
|
rs148502711
|
|
NM_001379500.1(COL18A1):c.2577+37del
|
rs397867048
|
|
NM_001379500.1(COL18A1):c.2782G>A (p.Gly928Arg)
|
rs187721798
|
|
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg)
|
rs187721798
|
|
NM_001379500.1(COL18A1):c.2824_2837= (p.Gly942_Pro946=)
|
|
|
NM_001379500.1(COL18A1):c.2824_2838del (p.Gly942_Pro946del)
|
|
|
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])
|
rs78227997
|
|
NM_001379500.1(COL18A1):c.3495+14del
|
rs3835286
|
|
NM_001379500.1(COL18A1):c.624G>A (p.Ala208=)
|
rs76148908
|
|
NM_001379500.1(COL18A1):c.776G>T (p.Arg259Leu)
|
rs62000965
|
|
NM_001379500.1(COL18A1):c.837C>A (p.Pro279=)
|
rs2230687
|
|
NM_001379500.1(COL18A1):c.837C>G (p.Pro279=)
|
rs2230687
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001844.5(COL2A1):c.2679+69dup
|
rs11443755
|
|
NM_001852.4(COL9A2):c.1604-26CTCC[7]
|
rs3831927
|
|
NM_001854.4(COL11A1):c.1792-39ATG[9]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)
|
rs17127270
|
|
NM_001854.4(COL11A1):c.3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.652-6del
|
rs36076089
|
|
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup)
|
rs72555376
|
|
NM_002778.4(PSAP):c.1193-26G>A
|
rs3747860
|
|
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
|
rs142272618
|
|
NM_004183.4(BEST1):c.868-99G>T
|
rs195158
|
|
NM_004385.5(VCAN):c.*1266G>C
|
rs544686778
|
|
NM_004385.5(VCAN):c.*1548del
|
rs397998455
|
|
NM_004385.5(VCAN):c.*1717C>A
|
rs537687030
|
|
NM_004385.5(VCAN):c.*816C>A
|
rs111455323
|
|
NM_004385.5(VCAN):c.1009C>G (p.Pro337Ala)
|
rs199827515
|
|
NM_004385.5(VCAN):c.1650C>T (p.Phe550=)
|
rs532077063
|
|
NM_004385.5(VCAN):c.3188T>C (p.Leu1063Pro)
|
rs61754532
|
|
NM_004385.5(VCAN):c.630C>T (p.Ile210=)
|
rs538498172
|
|
NM_004385.5(VCAN):c.6902T>A (p.Phe2301Tyr)
|
rs160278
|
|
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)
|
rs160278
|
|
NM_004385.5(VCAN):c.8362A>G (p.Met2788Val)
|
rs201444192
|
|
NM_004385.5(VCAN):c.8809G>T (p.Asp2937Tyr)
|
rs160277
|
|
NM_004385.5(VCAN):c.927T>C (p.Thr309=)
|
rs536465380
|
|
NM_007055.4(POLR3A):c.*272G>C
|
rs2241547
|
|
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His)
|
rs34588967
|
|
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu)
|
rs34588967
|
|
NM_007055.4(POLR3A):c.1771-6C>T
|
rs115020338
|
|
NM_012193.4(FZD4):c.*2047C>T
|
rs527339048
|
|
NM_012193.4(FZD4):c.*2960T>C
|
rs59987244
|
|
NM_012338.4(TSPAN12):c.-277C>T
|
rs549451459
|
|
NM_014249.4(NR2E3):c.195C>T (p.Asn65=)
|
rs367603365
|
|
NM_014249.4(NR2E3):c.76A>C (p.Lys26Gln)
|
rs373237215
|
|
NM_014249.4(NR2E3):c.951del (p.Thr318fs)
|
rs11351249
|
|
NM_018082.6(POLR3B):c.1102-3dup
|
rs202125845
|
|
NM_018082.6(POLR3B):c.1102-4_1102-3dup
|
rs202125845
|
|
NM_018082.6(POLR3B):c.72+184_72+188del
|
rs139244819
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197
|
|
NM_025136.4(OPA3):c.*1761A>T
|
rs141446737
|
|
NM_025136.4(OPA3):c.*4857A>T
|
rs4803833
|
|
NM_025136.4(OPA3):c.*6289A>G
|
rs182293743
|
|
NM_025136.4(OPA3):c.143-5dup
|
|
|
NM_032383.5(HPS3):c.2887+19dup
|
rs397710976
|
|
NM_130837.3(OPA1):c.*1610C>A
|
rs73069785
|
|
NM_130837.3(OPA1):c.*560T>C
|
rs7643844
|
|
NM_152296.5(ATP1A3):c.*247C>T
|
rs565195548
|
|
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu)
|
rs782230953
|
|
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)
|
rs782266448
|
|