NM_000828.4(GRIA3):c.-2G=
|
rs58044961
|
1.00000
|
NM_001220.5(CAMK2B):c.*2+97dup
|
rs138799733
|
1.00000
|
NM_001220.5(CAMK2B):c.1176+106dup
|
rs5883896
|
1.00000
|
NM_005629.4(SLC6A8):c.-5A>G
|
rs384573
|
1.00000
|
NM_015267.4(CUX2):c.4414G>C (p.Val1472Leu)
|
rs6490073
|
1.00000
|
NM_001845.6(COL4A1):c.1663= (p.Pro555=)
|
rs536174
|
0.99999
|
NM_014334.4(FRRS1L):c.-2G>C
|
rs10979723
|
0.99999
|
NM_014334.4(FRRS1L):c.-3C>G
|
rs10979724
|
0.99999
|
NM_001278116.2(L1CAM):c.-109+1811dup
|
rs77883713
|
0.99995
|
NM_004813.4(PEX16):c.346G>A (p.Val116Ile)
|
rs10742772
|
0.99994
|
NM_014846.4(WASHC5):c.2770+18_2770+19insG
|
rs11370883
|
0.99994
|
NM_003977.4(AIP):c.920= (p.Arg307=)
|
rs4930199
|
0.99984
|
NM_006261.5(PROP1):c.59A>G (p.Asn20Ser)
|
rs7445271
|
0.99974
|
NM_144599.5(NIPA1):c.*1981A>G
|
rs6606822
|
0.99970
|
NM_000702.4(ATP1A2):c.13-22T>C
|
rs2854246
|
0.99954
|
NM_001163435.3(TBCK):c.796C>G (p.Gln266Glu)
|
rs3775091
|
0.99817
|
NM_001001344.3(ATP2B3):c.790+17G>C
|
rs2980013
|
0.99748
|
NM_001111.5(ADAR):c.78G>A (p.Arg26=)
|
rs1802645
|
0.99723
|
NM_001447.3(FAT2):c.3541T>C (p.Tyr1181His)
|
rs6872614
|
0.99676
|
NM_001165963.4(SCN1A):c.*721A>G
|
rs4667859
|
0.99675
|
NM_001001344.3(ATP2B3):c.2839+33A>G
|
rs2980018
|
0.99672
|
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=)
|
rs1748971
|
0.99666
|
NM_015981.4(CAMK2A):c.158-19A>C
|
rs891938
|
0.99657
|
NM_025243.4(SLC19A3):c.*2109C>T
|
rs7593437
|
0.99641
|
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly)
|
rs1466731
|
0.99604
|
NM_001447.3(FAT2):c.7283T>C (p.Phe2428Ser)
|
rs6892335
|
0.99601
|
NM_000755.5(CRAT):c.1114C>A (p.Leu372Met)
|
rs3118635
|
0.99567
|
NM_001371928.1(AHDC1):c.2803G>A (p.Ala935Thr)
|
rs4908364
|
0.99565
|
NM_018896.5(CACNA1G):c.3792-87A>T
|
rs198530
|
0.99492
|
NM_000310.4(PPT1):c.125-77G>C
|
rs4481840
|
0.99450
|
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=)
|
rs426298
|
0.99420
|
NM_015213.4(DENND5A):c.2858-37A>G
|
rs10732517
|
0.99398
|
NM_000310.4(PPT1):c.433+79A>G
|
rs3122439
|
0.99388
|
NM_005121.3(MED13):c.4320C>T (p.Asp1440=)
|
rs671347
|
0.99338
|
NM_001368397.1(FRMPD4):c.1197+12C>G
|
rs4469660
|
0.99321
|
NM_005993.5(TBCD):c.2039-43A>G
|
rs1471197
|
0.99307
|
NM_145239.3(PRRT2):c.751T>C (p.Leu251=)
|
rs11150573
|
0.99277
|
NM_001127222.2(CACNA1A):c.1987-98C>T
|
rs4926263
|
0.99259
|
NM_012310.5(KIF4A):c.27C>T (p.Pro9=)
|
rs1199470
|
0.99232
|
NM_001127649.3(PEX26):c.*2281T>C
|
rs362209
|
0.99208
|
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=)
|
rs6491088
|
0.99194
|
NM_014263.4(YME1L1):c.1720-36G>C
|
rs2480718
|
0.99189
|
NM_153252.5(BRWD3):c.3863A>G (p.Lys1288Arg)
|
rs3122407
|
0.99173
|
NM_020843.4(SCAPER):c.2645+36T>C
|
rs280021
|
0.99164
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=)
|
rs3020949
|
0.99114
|
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=)
|
rs721186
|
0.99062
|
NM_004960.3(FUS):c.*1476T>C
|
rs11860134
|
0.98998
|
NM_001318510.2(ACSL4):c.1697+31G>A
|
rs839408
|
0.98980
|
NM_000391.4(TPP1):c.1075+28T>C
|
rs7943955
|
0.98952
|
NM_005045.4(RELN):c.8843+7G>C
|
rs2711885
|
0.98938
|
NM_000030.3(AGXT):c.846+170C>T
|
rs4675793
|
0.98913
|
NM_015087.5(SPART):c.*624A>G
|
rs2148049
|
0.98868
|
NM_002618.4(PEX13):c.*358G>A
|
rs1177230
|
0.98833
|
NM_005866.4(SIGMAR1):c.*31A>G
|
rs4879809
|
0.98825
|
NM_001080414.4(CCDC88C):c.1527+128A>G
|
rs1285766
|
0.98802
|
NM_003334.4(UBA1):c.811+9C>G
|
rs4239964
|
0.98795
|
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly)
|
rs375912738
|
0.98789
|
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly)
|
rs4930388
|
0.98751
|
NM_016529.6(ATP8A2):c.3184-88G>A
|
rs9511998
|
0.98717
|
NM_006267.5(RANBP2):c.8253G>A (p.Glu2751=)
|
rs826580
|
0.98708
|
NM_198994.3(TGM6):c.1968-10C>T
|
rs6036467
|
0.98682
|
NM_002858.4(ABCD3):c.1846-31C>G
|
rs3118109
|
0.98643
|
NM_018325.5(C9orf72):c.665+115_665+117dup
|
rs3063748
|
0.98615
|
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_198503.5(KCNT2):c.3009T>C (p.Asp1003=)
|
rs977157
|
0.98588
|
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)
|
rs10087163
|
0.98578
|
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)
|
rs27673
|
0.98545
|
NM_000144.5(FXN):c.54A>G (p.Pro18=)
|
rs2481598
|
0.98511
|
NM_001846.4(COL4A2):c.4083T>C (p.Thr1361=)
|
rs438758
|
0.98496
|
NM_001130438.3(SPTAN1):c.5085A>G (p.Leu1695=)
|
rs1415568
|
0.98480
|
NM_020708.5(SLC12A5):c.2100G>A (p.Ala700=)
|
rs6032635
|
0.98449
|
NM_001127222.2(CACNA1A):c.6526+137A>G
|
rs10413221
|
0.98446
|
NM_001378778.1(MPDZ):c.1804-26G>C
|
rs1331676
|
0.98425
|
NM_015192.4(PLCB1):c.1889-43G>A
|
rs993670
|
0.98398
|
NM_001371986.1(UNC80):c.3977-4C>A
|
rs2370838
|
0.98394
|
NM_032776.3(JMJD1C):c.3984T>A (p.Arg1328=)
|
rs1904294
|
0.98372
|
NM_018026.4(PACS1):c.2777-3T>C
|
rs524268
|
0.98359
|
NM_000925.4(PDHB):c.435A>G (p.Arg145=)
|
rs4264746
|
0.98352
|
NM_015028.4(TNIK):c.2331G>C (p.Ala777=)
|
rs6444960
|
0.98309
|
NM_012073.5(CCT5):c.994-130C>T
|
rs2607327
|
0.98303
|
NM_001044.5(SLC6A3):c.1498+14A>G
|
rs429699
|
0.98180
|
NM_000318.3(PEX2):c.*1194A>G
|
rs4311633
|
0.98172
|
NM_052988.5(CDK10):c.609-29T>C
|
rs460057
|
0.98149
|
NM_052988.5(CDK10):c.485+49A>G
|
rs187282
|
0.98147
|
NM_001077350.3(NPRL3):c.1351+75T>C
|
rs2239299
|
0.98102
|
NM_000288.4(PEX7):c.340-71G>A
|
rs927181
|
0.98050
|
NM_021927.3(GUF1):c.586-27T>A
|
rs58659516
|
0.97959
|
NM_021927.3(GUF1):c.1715+8C>G
|
rs12641137
|
0.97958
|
NM_021927.3(GUF1):c.586-28_586-27insA
|
rs112232487
|
0.97958
|
NM_025000.4(DCAF17):c.*2340C>T
|
rs888428
|
0.97908
|
NM_018075.5(ANO10):c.1915-5852T>C
|
rs6441771
|
0.97895
|
NM_020919.4(ALS2):c.4123-64G>A
|
rs1210940
|
0.97856
|
NM_001303052.2(MYT1L):c.1104C>A (p.Pro368=)
|
rs1529667
|
0.97836
|
NM_001127222.2(CACNA1A):c.4950+96A>C
|
rs16039
|
0.97758
|
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala)
|
rs1617510
|
0.97670
|
NM_005097.4(LGI1):c.657T>C (p.Phe219=)
|
rs1111820
|
0.97657
|
NM_020738.4(KIDINS220):c.2849-25T>A
|
rs12476359
|
0.97631
|
NM_006345.4(SLC30A9):c.289A>G (p.Thr97Ala)
|
rs2581423
|
0.97621
|
NM_001242896.3(DEPDC5):c.484-43G>C
|
rs138286
|
0.97589
|
NM_001329943.3(KIAA0586):c.1254-25G>A
|
rs1743721
|
0.97577
|
NM_001329943.3(KIAA0586):c.2254+25A>G
|
rs1743716
|
0.97575
|
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro)
|
rs1748986
|
0.97574
|
NM_002913.5(RFC1):c.4-26G>A
|
rs4975007
|
0.97561
|
NM_001195248.2(APTX):c.874+84G>A
|
rs4878522
|
0.97554
|
NM_018206.6(VPS35):c.1938C>T (p.His646=)
|
rs168745
|
0.97484
|
NM_001130682.3(GUCY1A1):c.1074A>G (p.Lys358=)
|
rs11944673
|
0.97422
|
NM_015100.4(POGZ):c.*30A>G
|
rs6667714
|
0.97376
|
NM_015192.4(PLCB1):c.3279-35A>G
|
rs2327090
|
0.97325
|
NM_001318734.2(KLC2):c.942+27T>C
|
rs525698
|
0.97319
|
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_003047.5(SLC9A1):c.2205A>G (p.Glu735=)
|
rs4418629
|
0.97243
|
NM_003085.5(SNCB):c.121+6T>C
|
rs4868669
|
0.97242
|
NM_001759.4(CCND2):c.-49T>C
|
rs3217786
|
0.97216
|
NM_006734.4(HIVEP2):c.4613T>C (p.Leu1538Pro)
|
rs109836
|
0.97172
|
NM_003047.5(SLC9A1):c.*2A>G
|
rs4266911
|
0.97068
|
NM_001127178.3(PIGG):c.2261+49A>T
|
rs7697650
|
0.97007
|
NM_001379500.1(COL18A1):c.107-12592T>C
|
rs914230
|
0.96979
|
NM_144992.5(VWA3B):c.3734G>A (p.Arg1245Lys)
|
rs7587534
|
0.96955
|
NM_198578.4(LRRK2):c.149G>A (p.Arg50His)
|
rs2256408
|
0.96952
|
NM_001130438.3(SPTAN1):c.2163A>C (p.Ala721=)
|
rs10760566
|
0.96940
|
NM_001365088.1(SLC12A6):c.*3097G>C
|
rs4238571
|
0.96869
|
NM_006214.4(PHYH):c.153C>T (p.Asn51=)
|
rs1747682
|
0.96869
|
NM_020843.4(SCAPER):c.772+1881G>T
|
rs3102707
|
0.96845
|
NM_000811.3(GABRA6):c.951G>T (p.Ala317=)
|
rs12522663
|
0.96771
|
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)
|
rs6442905
|
0.96699
|
NM_001365088.1(SLC12A6):c.1943+51G>A
|
rs4371122
|
0.96544
|
NM_021927.3(GUF1):c.585+27C>T
|
rs13117025
|
0.96436
|
NM_001429.4(EP300):c.2053+8G>T
|
rs6002267
|
0.96326
|
NM_001367561.1(DOCK7):c.6212+19G>A
|
rs1168007
|
0.96294
|
NM_000702.4(ATP1A2):c.495+65T>C
|
rs2820582
|
0.96234
|
NM_177400.3(NKX6-2):c.626T>C (p.Val209Ala)
|
rs2804003
|
0.96211
|
NM_014806.5(RUSC2):c.217A>G (p.Thr73Ala)
|
rs1535422
|
0.96071
|
NM_032776.3(JMJD1C):c.168+10T>C
|
rs10761770
|
0.96023
|
NM_004565.3(PEX14):c.169+34A>G
|
rs2480779
|
0.95850
|
NM_000153.4(GALC):c.1698A>T (p.Val566=)
|
rs421466
|
0.95773
|
NM_018489.3(ASH1L):c.5311A>G (p.Thr1771Ala)
|
rs4971053
|
0.95641
|
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro)
|
rs1011320
|
0.95640
|
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_002025.4(AFF2):c.3404+7A>G
|
rs5980615
|
0.95464
|
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_001378615.1(CC2D2A):c.4065+28A>T
|
rs6832789
|
0.95451
|
NM_007327.4(GRIN1):c.394-22G>A
|
rs10870196
|
0.95430
|
NM_003000.3(SDHB):c.201-36G>T
|
rs1022580
|
0.95416
|
NM_003000.3(SDHB):c.18C>A (p.Ala6=)
|
rs2746462
|
0.95374
|
NM_007327.4(GRIN1):c.1467+8G>A
|
rs10747050
|
0.95319
|
NM_000702.4(ATP1A2):c.381+16C>T
|
rs2820581
|
0.95274
|
NM_016553.5(NUP62):c.1323T>C (p.Asp441=)
|
rs892028
|
0.95154
|
NM_004960.4(FUS):c.-54A>G
|
rs929867
|
0.95117
|
NM_001001344.3(ATP2B3):c.2326+11C>T
|
rs3020957
|
0.95109
|
NM_001365088.1(SLC12A6):c.*1492T>C
|
rs6495640
|
0.95051
|
NM_000318.3(PEX2):c.*2377A>G
|
rs4388434
|
0.94963
|
NM_000318.3(PEX2):c.*727T>C
|
rs4610720
|
0.94956
|
NM_003054.6(SLC18A2):c.-15-39A>C
|
rs2619094
|
0.94938
|
NM_000157.4(GBA1):c.1225-34C>A
|
rs3115534
|
0.94932
|
NM_015166.4(MLC1):c.321+50T>C
|
rs79301
|
0.94928
|
NM_015346.4(ZFYVE26):c.*1409C>T
|
rs10288
|
0.94789
|
NM_015346.4(ZFYVE26):c.*1582G>A
|
rs8017209
|
0.94782
|
NM_138459.5(NUS1):c.-16T>C
|
rs9767451
|
0.94753
|
NM_015275.3(WASHC4):c.2701G>A (p.Val901Ile)
|
rs1663564
|
0.94695
|
NM_001282531.3(ADNP):c.*50A>C
|
rs761240
|
0.94627
|
NM_001349338.3(FOXP1):c.1889+20C>A
|
rs7638391
|
0.94569
|
NM_001846.4(COL4A2):c.3807T>C (p.Gly1269=)
|
rs409858
|
0.94356
|
NM_001846.4(COL4A2):c.3804T>A (p.Pro1268=)
|
rs439831
|
0.94355
|
NM_020702.5(MYORG):c.159C>G (p.Asp53Glu)
|
rs4879781
|
0.94274
|
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=)
|
rs2241694
|
0.94205
|
NM_001846.4(COL4A2):c.4290C>T (p.Phe1430=)
|
rs4771683
|
0.94122
|
NM_004268.5(MED17):c.859+18T>C
|
rs657177
|
0.94089
|
NM_001172509.2(SATB2):c.1543-4A>C
|
rs10153730
|
0.93908
|
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)
|
rs3742883
|
0.93729
|
NM_014844.5(TECPR2):c.958G>A (p.Val320Ile)
|
rs1309353
|
0.93726
|
NM_144599.5(NIPA1):c.*1974C>A
|
rs6606823
|
0.93707
|
NM_000726.5(CACNB4):c.*5385C>T
|
rs1568673
|
0.93666
|
NM_004287.5(GOSR2):c.*301T>C
|
rs8078556
|
0.93627
|
NM_018489.3(ASH1L):c.8293+58A>G
|
rs4971051
|
0.93536
|
NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg)
|
rs3851294
|
0.93525
|
NM_144772.3(NAXE):c.717A>C (p.Ile239=)
|
rs6427322
|
0.93471
|
NM_144772.3(NAXE):c.664+28G>A
|
rs6427321
|
0.93468
|
NM_144772.3(NAXE):c.804G>A (p.Glu268=)
|
rs6668178
|
0.93461
|
NM_144772.3(NAXE):c.843C>T (p.Thr281=)
|
rs942963
|
0.93461
|
NM_144772.3(NAXE):c.*22T>C
|
rs1270
|
0.93458
|
NM_144772.3(NAXE):c.291+7G>A
|
rs1925949
|
0.93449
|
NM_144772.3(NAXE):c.55G>C (p.Val19Leu)
|
rs7516274
|
0.93444
|
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg)
|
rs2241088
|
0.93443
|
NM_001846.4(COL4A2):c.297G>A (p.Thr99=)
|
rs4238272
|
0.93420
|
NM_198994.3(TGM6):c.172A>G (p.Met58Val)
|
rs2076405
|
0.93204
|
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
NM_198859.4(PRICKLE2):c.*1605T>G
|
rs26938
|
0.93091
|
NM_139318.5(KCNH5):c.2577A>G (p.Arg859=)
|
rs7161127
|
0.93044
|
NM_012073.5(CCT5):c.*1172G>T
|
rs2578638
|
0.93037
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_025114.4(CEP290):c.6645+67G>A
|
rs2471512
|
0.92687
|
NM_198859.4(PRICKLE2):c.*2772A>G
|
rs27383
|
0.92477
|
NM_015166.4(MLC1):c.526-118C>T
|
rs4838882
|
0.92209
|
NM_016032.4(ZDHHC9):c.487+15A>G
|
rs2275605
|
0.92100
|
NM_213720.3(CHCHD10):c.261+11A>G
|
rs131444
|
0.92009
|
NM_005765.3(ATP6AP2):c.534+45G>C
|
rs3112299
|
0.91713
|
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser)
|
rs968733
|
0.91637
|
NM_012073.5(CCT5):c.1498+28del
|
rs147103051
|
0.91564
|
NM_001854.4(COL11A1):c.2295+37A>T
|
rs2622867
|
0.91369
|
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=)
|
rs179468
|
0.91291
|
NM_016302.4(CRBN):c.750+32A>G
|
rs1705789
|
0.91072
|
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)
|
rs941920
|
0.90936
|
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=)
|
rs8096662
|
0.90817
|
NM_198859.4(PRICKLE2):c.*4733G>A
|
rs153732
|
0.90732
|
NM_198859.4(PRICKLE2):c.*4797G>A
|
rs153733
|
0.90729
|
NM_001447.3(FAT2):c.1527C>T (p.Pro509=)
|
rs1465690
|
0.90395
|
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)
|
rs626169
|
0.90284
|
NM_015474.4(SAMHD1):c.208+158A>G
|
rs6030389
|
0.90232
|
NM_003054.6(SLC18A2):c.700+15C>T
|
rs2072362
|
0.90152
|
NM_001927.4(DES):c.75A>G (p.Pro25=)
|
rs1318299
|
0.89847
|
NM_015192.4(PLCB1):c.3188+8C>T
|
rs2327089
|
0.89617
|
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)
|
rs6501820
|
0.89534
|
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val)
|
rs324136
|
0.89518
|
NM_020247.5(COQ8A):c.730+260T>C
|
rs1888826
|
0.89455
|
NM_006946.4(SPTBN2):c.657-47G>A
|
rs615536
|
0.89277
|
NM_001365536.1(SCN9A):c.4774+16T>A
|
rs10180721
|
0.89276
|
NM_022101.4(STEEP1):c.-2T>C
|
rs5910616
|
0.89242
|
NM_024989.4(PGAP1):c.649+17G>A
|
rs12693800
|
0.89159
|
NM_016302.4(CRBN):c.175-9T>C
|
rs1669321
|
0.89132
|
NM_002739.5(PRKCG):c.72C>T (p.Ala24=)
|
rs2547362
|
0.89099
|
NM_000521.4(HEXB):c.558+45G>A
|
rs1665894
|
0.89050
|
NM_020919.4(ALS2):c.4627-69T>A
|
rs3219171
|
0.89021
|
NM_020919.4(ALS2):c.4581-48T>C
|
rs3219170
|
0.89015
|
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)
|
rs3219168
|
0.89012
|
NM_007118.4(TRIO):c.5100A>C (p.Thr1700=)
|
rs30612
|
0.88742
|
NM_016188.5(ACTL6B):c.*98T>A
|
rs1052897
|
0.88580
|
NM_001128126.3(AP4S1):c.295-34T>G
|
rs11621299
|
0.88578
|
NM_032193.4(RNASEH2C):c.*1527A>C
|
rs521678
|
0.88416
|
NM_001127649.3(PEX26):c.*2051A>G
|
rs361946
|
0.88398
|
NM_001127649.3(PEX26):c.*987T>C
|
rs361807
|
0.88380
|
NM_004859.4(CLTC):c.2293-26T>C
|
rs8065248
|
0.88365
|
NM_001001344.3(ATP2B3):c.2839+14G>T
|
rs3020959
|
0.88308
|
NM_130837.3(OPA1):c.1035+4T>C
|
rs166850
|
0.88294
|
NM_001927.4(DES):c.93T>C (p.Ser31=)
|
rs2017800
|
0.88201
|
NM_032856.5(WDR73):c.591A>G (p.Ser197=)
|
rs2271432
|
0.87940
|
NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg)
|
rs6746030
|
0.87930
|
NM_020745.4(AARS2):c.2871A>G (p.Ser957=)
|
rs325008
|
0.87930
|
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_152309.3(PIK3AP1):c.1576C>T (p.Leu526=)
|
rs4344416
|
0.87861
|
NM_020745.4(AARS2):c.2683-20A>G
|
rs325007
|
0.87773
|
NM_001127178.3(PIGG):c.571-563A>G
|
rs4690182
|
0.87699
|
NM_001077350.3(NPRL3):c.548-64A>G
|
rs808892
|
0.87694
|
NM_020745.4(AARS2):c.2598+117G>C
|
rs325005
|
0.87685
|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_018100.4(EFHC1):c.*121C>A
|
rs7757370
|
0.87583
|
NM_018100.4(EFHC1):c.*1180G>A
|
rs4455668
|
0.87433
|
NM_001846.4(COL4A2):c.*417C>G
|
rs10509
|
0.87295
|
NM_014026.6(DCPS):c.315G>A (p.Gln105=)
|
rs637462
|
0.87290
|
NM_016213.5(TRIP4):c.1596G>A (p.Glu532=)
|
rs7167612
|
0.87160
|
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala)
|
rs10103355
|
0.87079
|
NM_003659.4(AGPS):c.1362+79G>A
|
rs12468046
|
0.87026
|
NM_001145809.2(MYH14):c.3033+11T>C
|
rs930086
|
0.86981
|
NM_020919.4(ALS2):c.1102G>A (p.Val368Met)
|
rs3219156
|
0.86916
|
NM_000096.4(CP):c.1632A>T (p.Glu544Asp)
|
rs701753
|
0.86852
|
NM_000744.7(CHRNA4):c.228+26A>G
|
rs6090384
|
0.86813
|
NM_000466.3(PEX1):c.358-15G>A
|
rs38809
|
0.86650
|
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)
|
rs2229960
|
0.86626
|
NM_003011.4(SET):c.493-14C>T
|
rs4836618
|
0.86614
|
NM_005993.5(TBCD):c.3290A>G (p.Glu1097Gly)
|
rs3785522
|
0.86579
|
NM_003011.4(SET):c.132-17C>T
|
rs3750330
|
0.86565
|
NM_016529.6(ATP8A2):c.2384+55C>T
|
rs2296003
|
0.86506
|
NM_004446.3(EPRS1):c.924C>A (p.Asp308Glu)
|
rs2230301
|
0.86493
|
NM_001961.4(EEF2):c.1632T>C (p.His544=)
|
rs36526
|
0.86134
|
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=)
|
rs36527
|
0.86130
|
NM_001961.4(EEF2):c.1150+15T>C
|
rs36525
|
0.86128
|
NM_001330260.2(SCN8A):c.4796-38C>A
|
rs303828
|
0.86075
|
NM_000742.4(CHRNA2):c.*1809T>C
|
rs2280375
|
0.86065
|
NM_001447.3(FAT2):c.12507C>T (p.Ser4169=)
|
rs7723266
|
0.86047
|
NM_004183.4(BEST1):c.867+327T>G
|
rs195160
|
0.86046
|
NM_153747.2(PIGC):c.267T>C (p.Gly89=)
|
rs2230471
|
0.85989
|
NM_016617.4(UFM1):c.2+25A>T
|
rs2231330
|
0.85971
|
NM_016011.5(MECR):c.597A>G (p.Ala199=)
|
rs1062924
|
0.85930
|
NM_003659.4(AGPS):c.442-64C>T
|
rs3754989
|
0.85863
|
NM_015178.3(RHOBTB2):c.296+16A>G
|
rs2430811
|
0.85861
|
NM_001447.3(FAT2):c.5544T>C (p.Pro1848=)
|
rs3797875
|
0.85860
|
NM_004859.4(CLTC):c.519+16T>G
|
rs8071749
|
0.85772
|
NM_001605.3(AARS1):c.2715T>C (p.Val905=)
|
rs4081753
|
0.85676
|
NM_182961.4(SYNE1):c.17203-48G>A
|
rs4112833
|
0.85656
|
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=)
|
rs273269
|
0.85598
|
NM_014263.4(YME1L1):c.*45C>T
|
rs9833
|
0.85438
|
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=)
|
rs4247094
|
0.85388
|
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val)
|
rs430554
|
0.85362
|
NM_015178.3(RHOBTB2):c.864T>C (p.Ser288=)
|
rs2466178
|
0.85310
|
NM_018713.3(SLC30A10):c.*744G>T
|
rs2275707
|
0.85264
|
NM_006651.4(CPLX1):c.*3G>C
|
rs10794536
|
0.85261
|
NM_000742.4(CHRNA2):c.*602T>C
|
rs2292976
|
0.85227
|
NM_001378615.1(CC2D2A):c.247+26A>G
|
rs10000250
|
0.85216
|
NM_033409.4(SLC52A3):c.1197+106A>G
|
rs6054589
|
0.85215
|
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=)
|
rs8063574
|
0.85136
|
NM_018052.5(VAC14):c.811+43G>A
|
rs1875941
|
0.85073
|
NM_021098.3(CACNA1H):c.4338T>C (p.Ile1446=)
|
rs4984637
|
0.85027
|
NM_032409.3(PINK1):c.*181C>G
|
rs513414
|
0.84999
|
NM_006279.5(ST3GAL3):c.1038+15A>G
|
rs3120803
|
0.84897
|
NM_032409.3(PINK1):c.*37A>T
|
rs686658
|
0.84751
|
NM_001205293.3(CACNA1E):c.1225+78A>G
|
rs12407563
|
0.84631
|
NM_000702.4(ATP1A2):c.1017+56G>A
|
rs6695366
|
0.84545
|
NM_001845.6(COL4A1):c.616-11G>C
|
rs645114
|
0.84459
|
NM_001846.4(COL4A2):c.4515A>G (p.Pro1505=)
|
rs445348
|
0.84408
|
NM_033305.3(VPS13A):c.2512+116A>G
|
rs2050831
|
0.84346
|
NM_001077350.3(NPRL3):c.1032-102A>G
|
rs2541618
|
0.84201
|
NM_000286.3(PEX12):c.-428T>C
|
rs321600
|
0.84193
|
NM_004446.3(EPRS1):c.232-17G>A
|
rs2647456
|
0.84187
|
NM_000310.3(PPT1):c.-83A>G
|
rs6600313
|
0.84142
|
NM_003977.4(AIP):c.682C>A (p.Gln228Lys)
|
rs641081
|
0.84113
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_001083614.2(EARS2):c.1369A>G (p.Ser457Gly)
|
rs6497671
|
0.84008
|
NM_032409.3(PINK1):c.960-5G>A
|
rs3131713
|
0.83971
|
NM_001083614.2(EARS2):c.606C>G (p.Val202=)
|
rs2073951
|
0.83916
|
NM_001083614.2(EARS2):c.*12T>G
|
rs1468138
|
0.83903
|
NM_032409.3(PINK1):c.388-7A>G
|
rs2298298
|
0.83839
|
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)
|
rs1800354
|
0.83747
|
NM_003659.4(AGPS):c.*4253C>A
|
rs10803912
|
0.83746
|
NM_004183.4(BEST1):c.636+44C>T
|
rs195162
|
0.83711
|
NM_003659.4(AGPS):c.*4974T>C
|
rs2293475
|
0.83675
|
NM_015922.3(NSDHL):c.132T>G (p.Gly44=)
|
rs5969919
|
0.83345
|
NM_001145809.2(MYH14):c.5788-41A>G
|
rs889002
|
0.83244
|
NM_016011.5(MECR):c.286T>C (p.Phe96Leu)
|
rs1128400
|
0.83145
|
NM_014467.3(SRPX2):c.356-38G>A
|
rs2022475
|
0.83087
|
NM_000742.4(CHRNA2):c.*511G>C
|
rs2292977
|
0.82917
|
NM_006721.4(ADK):c.*648C>T
|
rs1189553
|
0.82915
|
NM_033409.4(SLC52A3):c.568-200T>C
|
rs6133374
|
0.82884
|
NM_003659.4(AGPS):c.*1866A>G
|
rs10930795
|
0.82837
|
NM_006759.4(UGP2):c.255+44G>A
|
rs10183479
|
0.82824
|
NM_004519.4(KCNQ3):c.*4958A>G
|
rs1437824
|
0.82814
|
NM_013275.6(ANKRD11):c.2772C>T (p.Thr924=)
|
rs2279349
|
0.82790
|
NM_001077350.3(NPRL3):c.768-53C>T
|
rs2541616
|
0.82761
|
NM_001161352.2(KCNMA1):c.*1957C>T
|
rs7073015
|
0.82683
|
NM_004519.4(KCNQ3):c.*3597G>A
|
rs1025436
|
0.82601
|
NM_130797.4(DPP6):c.723A>G (p.Lys241=)
|
rs3807218
|
0.82535
|
NM_001288705.3(CSF1R):c.*36A>C
|
rs2066934
|
0.82488
|
NM_001288705.3(CSF1R):c.*35C>T
|
rs2066933
|
0.82461
|
NM_001083614.2(EARS2):c.*1594C>T
|
rs9707
|
0.82452
|
NM_021076.4(NEFH):c.2232T>C (p.Ala744=)
|
rs165923
|
0.82375
|
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)
|
rs11540913
|
0.82371
|
NM_198904.4(GABRG2):c.631+1248A>G
|
rs211035
|
0.82291
|
NM_015100.4(POGZ):c.1779+39C>T
|
rs3748550
|
0.82270
|
NM_015178.3(RHOBTB2):c.296+29G>T
|
rs2466179
|
0.82262
|
NM_015100.4(POGZ):c.-6A>G
|
rs12125310
|
0.82249
|
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)
|
rs2306916
|
0.82174
|
NM_001040142.2(SCN2A):c.268-28A>G
|
rs7593568
|
0.82099
|
NM_001288705.3(CSF1R):c.2133-35G>C
|
rs216138
|
0.82067
|
NM_001040142.2(SCN2A):c.1671+49A>G
|
rs1838846
|
0.82025
|
NM_001040142.2(SCN2A):c.1035-3T>C
|
rs2121371
|
0.82016
|
NM_004446.3(EPRS1):c.3373+24A>G
|
rs2647462
|
0.81956
|
NM_003383.5(VLDLR):c.-69A>G
|
rs12379259
|
0.81906
|
NM_001134831.2(AHI1):c.1780-14C>T
|
rs2757645
|
0.81825
|
NM_016553.5(NUP62):c.648C>T (p.Ser216=)
|
rs999583
|
0.81792
|
NM_001348323.3(TRIP12):c.2651-25C>T
|
rs4972915
|
0.81767
|
NM_004187.5(KDM5C):c.2243+11G>T
|
rs1977364
|
0.81756
|
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)
|
rs1676486
|
0.81716
|
NM_000836.4(GRIN2D):c.2697T>C (p.Ala899=)
|
rs62130268
|
0.81706
|
NM_020919.4(ALS2):c.4004+25C>T
|
rs3219167
|
0.81578
|
NM_000815.5(GABRD):c.69-19G>A
|
rs2376805
|
0.81443
|
NM_001083614.2(EARS2):c.*1443C>G
|
rs6497669
|
0.81426
|
NM_001127222.2(CACNA1A):c.1199-31A>G
|
rs16008
|
0.81362
|
NM_000702.4(ATP1A2):c.1326+49dup
|
rs5778151
|
0.81329
|
NM_001378457.1(DMXL2):c.-36A>C
|
rs6493514
|
0.81214
|
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829
|
0.81114
|
NM_003630.3(PEX3):c.*319A>T
|
rs223234
|
0.81061
|
NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=)
|
rs1878583
|
0.81051
|
NM_015272.5(RPGRIP1L):c.1104-82C>T
|
rs4133017
|
0.80982
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
NM_001134407.3(GRIN2A):c.*8535A>C
|
rs767749
|
0.80853
|
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=)
|
rs4880091
|
0.80826
|
NM_001008212.2(OPTN):c.553-5C>T
|
rs2244380
|
0.80823
|
NM_003477.3(PDHX):c.*644C>A
|
rs7808
|
0.80809
|
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)
|
rs1044394
|
0.80763
|
NM_198241.3(EIF4G1):c.1294A>G (p.Met432Val)
|
rs2178403
|
0.80731
|
NM_022089.4(ATP13A2):c.1195+66A>G
|
rs9435736
|
0.80687
|
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)
|
rs9479297
|
0.80638
|
NM_021076.4(NEFH):c.2784A>G (p.Val928=)
|
rs165625
|
0.80626
|
NM_016011.5(MECR):c.176+19G>A
|
rs2640466
|
0.80531
|
NM_182961.4(SYNE1):c.12352-39A>G
|
rs9479298
|
0.80324
|
NM_001385875.1(ZFYVE27):c.*248T>C
|
rs3814559
|
0.80267
|
NM_015100.4(POGZ):c.568+34T>C
|
rs6587577
|
0.80243
|
NM_198241.3(EIF4G1):c.3953+9A>G
|
rs939317
|
0.80145
|
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
NM_004813.4(PEX16):c.542-16C>T
|
rs3802758
|
0.80104
|
NM_000836.4(GRIN2D):c.3142T>C (p.Leu1048=)
|
rs111420822
|
0.80040
|
NM_007347.5(AP4E1):c.1967-91A>G
|
rs2306335
|
0.79763
|
NM_032108.4(SEMA6B):c.307-31T>G
|
rs10422881
|
0.79751
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
NM_001844.5(COL2A1):c.-119C>T
|
rs3803182
|
0.79564
|
NM_001134407.3(GRIN2A):c.*5818C>T
|
rs8044472
|
0.79542
|
NM_001844.5(COL2A1):c.654+15T>G
|
rs1034762
|
0.79333
|
NM_001385875.1(ZFYVE27):c.*367G>A
|
rs3814560
|
0.79317
|
NM_000030.3(AGXT):c.777-44A>G
|
rs12464426
|
0.79262
|
NM_004483.5(GCSH):c.62C>T (p.Ser21Leu)
|
rs8052579
|
0.79247
|
NM_001166114.2(PNPLA6):c.2465+41C>G
|
rs534464
|
0.79112
|
NM_004813.4(PEX16):c.873T>C (p.Tyr291=)
|
rs1132349
|
0.79011
|
NM_182961.4(SYNE1):c.1463+24G>T
|
rs4523096
|
0.78969
|
NM_015338.6(ASXL1):c.719-100C>T
|
rs2295765
|
0.78948
|
NM_031448.6(C19orf12):c.*1686T>C
|
rs7255131
|
0.78821
|
NM_003477.3(PDHX):c.63C>T (p.Pro21=)
|
rs2956109
|
0.78720
|
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)
|
rs1044393
|
0.78554
|
NM_015957.4(APIP):c.-70T>C
|
rs2956112
|
0.78475
|
NM_000487.6(ARSA):c.*919A>G
|
rs5770805
|
0.78412
|
NM_015378.4(VPS13D):c.8658A>C (p.Pro2886=)
|
rs28551666
|
0.78408
|
NM_001330260.2(SCN8A):c.1135-48C>T
|
rs2291265
|
0.78368
|
NM_001145809.2(MYH14):c.5678+12C>T
|
rs3826772
|
0.78229
|
NM_022124.6(CDH23):c.4206+131T>C
|
rs1227061
|
0.77987
|
NM_024306.5(FA2H):c.879C>T (p.Pro293=)
|
rs2301865
|
0.77852
|
NM_012473.4(TXN2):c.387+30A>C
|
rs2281082
|
0.77835
|
NM_000447.3(PSEN2):c.69T>C (p.Ala23=)
|
rs11405
|
0.77636
|
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)
|
rs11553521
|
0.77624
|
NM_198681.4(PLEKHG5):c.-267G>A
|
rs1556035
|
0.77574
|
NM_005458.8(GABBR2):c.375T>G (p.Pro125=)
|
rs2808536
|
0.77371
|
NM_001271.4(CHD2):c.2049A>G (p.Glu683=)
|
rs4777755
|
0.77324
|
NM_022124.6(CDH23):c.*349A>G
|
rs1867978
|
0.77194
|
NM_012338.4(TSPAN12):c.*39C>T
|
rs41622
|
0.76971
|
NM_001127222.2(CACNA1A):c.5941-205T>C
|
rs2419233
|
0.76943
|
NM_025114.4(CEP290):c.2818-50G>C
|
rs2471532
|
0.76931
|
NM_000487.6(ARSA):c.1210+20C>G
|
rs762674
|
0.76867
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_012338.4(TSPAN12):c.361-34C>T
|
rs7805733
|
0.76668
|
NM_031448.6(C19orf12):c.*2961T>C
|
rs10417597
|
0.76596
|
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)
|
rs560096
|
0.76511
|
NM_001330260.2(SCN8A):c.3490+20G>A
|
rs303808
|
0.76481
|
NM_001166114.2(PNPLA6):c.2634+39T>C
|
rs599330
|
0.76480
|
NM_002860.4(ALDH18A1):c.88+126A>C
|
rs9787589
|
0.76474
|
NM_006087.4(TUBB4A):c.*111G>C
|
rs446199
|
0.76464
|
NM_003705.5(SLC25A12):c.210-21A>G
|
rs2056202
|
0.76440
|
NM_001001344.3(ATP2B3):c.664+41G>A
|
rs762733
|
0.76378
|
NM_138775.3(ALKBH8):c.720T>C (p.Asp240=)
|
rs645056
|
0.76333
|
NM_152722.5(HEPACAM):c.*1279A>G
|
rs3802904
|
0.76330
|
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu)
|
rs1799983
|
0.76319
|
NM_000391.4(TPP1):c.*1628G>A
|
rs7488
|
0.76311
|
NM_031448.6(C19orf12):c.*3096_*3097insG
|
rs35973369
|
0.76181
|
NM_025136.4(OPA3):c.*6790T>C
|
rs10422253
|
0.76137
|
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)
|
rs1249463
|
0.76080
|
NM_001080397.3(SLC45A1):c.942A>G (p.Pro314=)
|
rs1058619
|
0.76044
|
NM_012338.4(TSPAN12):c.765G>T (p.Pro255=)
|
rs41623
|
0.76026
|
NM_020987.5(ANK3):c.13066-44C>A
|
rs2393607
|
0.76024
|
NM_001271.4(CHD2):c.4414-45C>T
|
rs12915582
|
0.75991
|
NM_152722.5(HEPACAM):c.652A>G (p.Met218Val)
|
rs10790715
|
0.75929
|
NM_002180.3(IGHMBP2):c.*255T>C
|
rs564244
|
0.75917
|
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)
|
rs3803183
|
0.75794
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_007126.5(VCP):c.1360-35A>G
|
rs2258240
|
0.75740
|
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=)
|
rs2241645
|
0.75696
|
NM_001042646.3(TRAK1):c.1095A>G (p.Ser365=)
|
rs9851455
|
0.75690
|
NM_024306.4(FA2H):c.-84G>C
|
rs8056865
|
0.75683
|
NM_006059.4(LAMC3):c.3244A>G (p.Ser1082Gly)
|
rs2275140
|
0.75621
|
NM_007126.5(VCP):c.811+3G>A
|
rs514492
|
0.75591
|
NM_001015877.2(PHF6):c.139-47G>A
|
rs5978001
|
0.75584
|
NM_001271.4(CHD2):c.2727+38T>G
|
rs11074122
|
0.75511
|
NM_001271.4(CHD2):c.2718A>G (p.Gln906=)
|
rs11074121
|
0.75493
|
NM_013275.6(ANKRD11):c.88-87C>T
|
rs2277908
|
0.75435
|
NM_016373.4(WWOX):c.516+6T>C
|
rs2303191
|
0.75307
|
NM_001378615.1(CC2D2A):c.1764+45T>G
|
rs1558572
|
0.75139
|
NM_001122955.4(BSCL2):c.766-49T>C
|
rs2850597
|
0.75076
|
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)
|
rs2278008
|
0.75062
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
NM_000810.4(GABRA5):c.878-9C>A
|
rs140684
|
0.74950
|
NM_013275.6(ANKRD11):c.88-75C>T
|
rs3114912
|
0.74950
|
NM_000487.6(ARSA):c.1108-32C>T
|
rs762673
|
0.74934
|
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=)
|
rs2227864
|
0.74835
|
NM_001122955.4(BSCL2):c.765+69A>G
|
rs2850596
|
0.74808
|
NM_006721.4(ADK):c.66-23911C>T
|
rs10824095
|
0.74804
|
NM_018129.4(PNPO):c.*2008A>G
|
rs1986693
|
0.74708
|
NM_002080.4(GOT2):c.1037T>G (p.Val346Gly)
|
rs30842
|
0.74625
|
NM_004184.4(WARS1):c.1254+35T>C
|
rs2234530
|
0.74617
|
NM_001145809.2(MYH14):c.2694+30T>C
|
rs1529492
|
0.74599
|
NM_000030.3(AGXT):c.*289A>C
|
rs4344931
|
0.74589
|
NM_003054.6(SLC18A2):c.791-42C>A
|
rs363343
|
0.74530
|
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val)
|
rs10882993
|
0.74523
|
NM_001846.4(COL4A2):c.1012-23G>A
|
rs7326449
|
0.74513
|
NM_001077350.3(NPRL3):c.1545-19A>G
|
rs743725
|
0.74458
|
NM_052867.4(NALCN):c.3570T>C (p.Leu1190=)
|
rs686141
|
0.74451
|
NM_001145809.2(MYH14):c.2250A>G (p.Pro750=)
|
rs1651553
|
0.74436
|
NM_000368.5(TSC1):c.*1275T>G
|
rs2809244
|
0.74384
|
NM_012073.5(CCT5):c.*593A>G
|
rs2578640
|
0.74295
|
NM_012073.5(CCT5):c.426T>C (p.Arg142=)
|
rs1042392
|
0.74241
|
NM_012073.5(CCT5):c.-23G>A
|
rs2548546
|
0.74239
|
NM_001543.5(NDST1):c.1662G>C (p.Thr554=)
|
rs1290147
|
0.74209
|
NM_002617.4(PEX10):c.291A>G (p.Thr97=)
|
rs2494598
|
0.74152
|
NM_022124.6(CDH23):c.146-125T>C
|
rs2297953
|
0.74120
|
NM_004268.5(MED17):c.417+72C>T
|
rs676586
|
0.74119
|
NM_014844.5(TECPR2):c.2934-236A>G
|
rs1190552
|
0.74118
|
NM_016213.5(TRIP4):c.1044-25G>A
|
rs2046356
|
0.74036
|
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)
|
rs2287939
|
0.73966
|
NM_001083614.2(EARS2):c.1352+25G>A
|
rs2072062
|
0.73904
|
NM_001368809.2(AMPD2):c.860+19A>G
|
rs524998
|
0.73896
|
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860
|
0.73885
|
NM_001165963.4(SCN1A):c.2947-41C>T
|
rs7601520
|
0.73875
|
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771
|
0.73872
|
NM_001385875.1(ZFYVE27):c.*40A>G
|
rs1981237
|
0.73851
|
NM_000310.4(PPT1):c.627+105A>C
|
rs3122428
|
0.73832
|
NM_001385875.1(ZFYVE27):c.*696G>A
|
rs4244329
|
0.73821
|
NM_000405.5(GM2A):c.205A>G (p.Met69Val)
|
rs153478
|
0.73795
|
NM_152564.5(VPS13B):c.1206+33T>G
|
rs7460625
|
0.73774
|
NM_012073.5(CCT5):c.530+100C>T
|
rs2578614
|
0.73499
|
NM_012073.5(CCT5):c.*67A>G
|
rs544
|
0.73487
|
NM_012073.5(CCT5):c.*181C>T
|
rs699113
|
0.73464
|
NM_012073.5(CCT5):c.198A>G (p.Gly66=)
|
rs2578617
|
0.73455
|
NM_012073.5(CCT5):c.1179+109G>A
|
rs2244717
|
0.73439
|
NM_012073.5(CCT5):c.531-98G>A
|
rs2457156
|
0.73436
|
NM_012073.5(CCT5):c.1498+36_1498+38del
|
rs370306096
|
0.73432
|
NM_012073.5(CCT5):c.1317+10C>A
|
rs2578642
|
0.73429
|
NM_012073.5(CCT5):c.*383A>G
|
rs2662533
|
0.73426
|
NM_012073.5(CCT5):c.-10T>C
|
rs2578618
|
0.73426
|
NM_012073.5(CCT5):c.331+71T>C
|
rs2607294
|
0.73392
|
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=)
|
rs3809872
|
0.73341
|
NM_012073.5(CCT5):c.331+133A>C
|
rs2578616
|
0.73340
|
NM_021008.4(DEAF1):c.1503+82C>A
|
rs11246258
|
0.73326
|
NM_001134831.2(AHI1):c.10+115C>A
|
rs9402709
|
0.73311
|
NM_000520.6(HEXA):c.*589T>G
|
rs11629508
|
0.73205
|
NM_000520.6(HEXA):c.*515G>A
|
rs3087652
|
0.73188
|
NM_173354.5(SIK1):c.1848C>T (p.Pro616=)
|
rs430552
|
0.73160
|
NM_001173990.3(TMEM216):c.*558G>A
|
rs7607
|
0.73129
|
NM_031448.6(C19orf12):c.*881G>A
|
rs3926
|
0.73115
|
NM_000925.4(PDHB):c.701-64G>T
|
rs2070662
|
0.72970
|
NM_033064.5(ATCAY):c.*2586A>G
|
rs8104659
|
0.72881
|
NM_000925.4(PDHB):c.*296C>G
|
rs7231
|
0.72833
|
NM_002887.4(RARS1):c.1497G>A (p.Ala499=)
|
rs653568
|
0.72554
|
NM_001083614.2(EARS2):c.264G>A (p.Ala88=)
|
rs7187920
|
0.72546
|
NM_001083614.2(EARS2):c.1068-5C>T
|
rs2072061
|
0.72406
|
NM_006946.4(SPTBN2):c.2816+23A>G
|
rs532439
|
0.72382
|
NM_001447.3(FAT2):c.11898T>C (p.His3966=)
|
rs2304028
|
0.72373
|
NM_182919.4(TICAM1):c.12A>G (p.Thr4=)
|
rs7255265
|
0.72359
|
NM_001160148.2(DDHD1):c.354C>T (p.His118=)
|
rs2358188
|
0.72343
|
NM_006180.6(NTRK2):c.212+40C>T
|
rs1187326
|
0.72197
|
NM_001510.4(GRID2):c.1251T>G (p.Gly417=)
|
rs1385405
|
0.72183
|
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=)
|
rs2227862
|
0.72171
|
NM_003659.4(AGPS):c.*3558C>T
|
rs8941
|
0.72163
|
NM_031448.6(C19orf12):c.324C>T (p.Thr108=)
|
rs10424582
|
0.72163
|
NM_001160148.2(DDHD1):c.273C>T (p.Phe91=)
|
rs2358189
|
0.72157
|
NM_020987.5(ANK3):c.*19+77T>A
|
rs2393604
|
0.72136
|
NM_020822.3(KCNT1):c.1769+16A>G
|
rs10776844
|
0.72033
|
NM_020987.5(ANK3):c.*19+56T>A
|
rs2393605
|
0.71945
|
NM_020987.5(ANK3):c.*19+55T>A
|
rs2393606
|
0.71943
|
NM_002080.4(GOT2):c.816C>T (p.Cys272=)
|
rs1058192
|
0.71897
|
NM_178138.6(LHX3):c.79+2007T>C
|
rs2274115
|
0.71807
|
NM_001447.3(FAT2):c.11043T>C (p.Asp3681=)
|
rs3822699
|
0.71549
|
NM_178013.4(PRIMA1):c.102T>C (p.His34=)
|
rs4905087
|
0.71521
|
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg)
|
rs25487
|
0.71503
|
NM_015973.5(GAL):c.301+16T>C
|
rs3136540
|
0.71485
|
NM_001492.6(GDF1):c.-1107C>G
|
rs3746263
|
0.71463
|
NM_001371928.1(AHDC1):c.2145G>T (p.Pro715=)
|
rs2076457
|
0.71440
|
NM_001182.5(ALDH7A1):c.1317+28G>A
|
rs2306617
|
0.71415
|
NM_014844.5(TECPR2):c.*60A>G
|
rs2403058
|
0.71373
|
NM_031448.6(C19orf12):c.*1020C>A
|
rs1140197
|
0.71321
|
NM_012073.5(CCT5):c.*824C>G
|
rs2578639
|
0.71210
|
NM_001447.3(FAT2):c.10541T>C (p.Leu3514Ser)
|
rs2053028
|
0.71072
|
NM_002080.4(GOT2):c.228T>G (p.Val76=)
|
rs14221
|
0.71031
|
NM_017841.4(SDHAF2):c.261-42G>A
|
rs879647
|
0.70822
|
NM_003719.5(PDE8B):c.1764A>G (p.Glu588=)
|
rs335614
|
0.70706
|
NM_006734.4(HIVEP2):c.6885A>G (p.Pro2295=)
|
rs169098
|
0.70641
|
NM_012193.4(FZD4):c.*1298C>T
|
rs3802892
|
0.70569
|
NM_015215.4(CAMTA1):c.4884-121A>G
|
rs9919223
|
0.70554
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
NM_001447.3(FAT2):c.10893G>A (p.Met3631Ile)
|
rs6650971
|
0.70468
|
NM_000170.3(GLDC):c.*540C>T
|
rs7848919
|
0.70462
|
NM_001368809.2(AMPD2):c.1272T>C (p.His424=)
|
rs863978
|
0.70414
|
NM_001042646.3(TRAK1):c.1744+77G>A
|
rs9311309
|
0.70393
|
NM_000310.4(PPT1):c.*657G>A
|
rs1126973
|
0.70258
|
NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=)
|
rs1427263
|
0.70218
|
NM_001447.3(FAT2):c.10854C>T (p.Tyr3618=)
|
rs3734046
|
0.70200
|
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)
|
rs9646771
|
0.70187
|
NM_006087.4(TUBB4A):c.774T>C (p.Val258=)
|
rs2071347
|
0.70114
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402
|
0.70073
|
NM_001165963.4(SCN1A):c.*1739C>T
|
rs1813502
|
0.70050
|
NM_000033.4(ABCD1):c.*8G>C
|
rs2229539
|
0.70012
|
NM_001385079.1(PDE10A):c.1890-19T>C
|
rs220749
|
0.70008
|
NM_025136.4(OPA3):c.*1950G>A
|
rs4404183
|
0.69999
|
NM_001042646.3(TRAK1):c.364-26T>C
|
rs4234445
|
0.69997
|
NM_152296.5(ATP1A3):c.*39C>G
|
rs919390
|
0.69962
|
NM_002080.4(GOT2):c.213T>C (p.Asn71=)
|
rs257636
|
0.69895
|
NM_000033.3(ABCD1):c.*1035C>T
|
rs6643782
|
0.69879
|
NM_005186.4(CAPN1):c.2059+14A>G
|
rs542380
|
0.69873
|
NM_000310.4(PPT1):c.*285T>G
|
rs1126970
|
0.69809
|
NM_000310.4(PPT1):c.*505C>G
|
rs1126972
|
0.69788
|
NM_001003787.4(STRADA):c.-18C>T
|
rs4968597
|
0.69767
|
NM_025136.4(OPA3):c.*3387G>A
|
rs3760844
|
0.69742
|
NM_025136.4(OPA3):c.*4318T>C
|
rs4802261
|
0.69665
|
NM_006721.4(ADK):c.878-71T>C
|
rs10740443
|
0.69570
|
NM_032581.4(HYCC1):c.*1318A>G
|
rs1583511
|
0.69542
|
NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=)
|
rs4582839
|
0.69474
|
NM_001103146.3(GIGYF2):c.2940A>G (p.Gln980=)
|
rs3816334
|
0.69457
|
NM_001103146.3(GIGYF2):c.3684+15G>A
|
rs6437074
|
0.69433
|
NM_006610.4(MASP2):c.*225T>C
|
rs1033638
|
0.69325
|
NM_015294.6(TRIM37):c.2386+40A>G
|
rs4932691
|
0.69195
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
NM_001378615.1(CC2D2A):c.3595-55C>G
|
rs4280723
|
0.69017
|
NM_032581.4(HYCC1):c.*1506T>A
|
rs4607514
|
0.68951
|
NM_015215.4(CAMTA1):c.4690-44A>G
|
rs10779689
|
0.68851
|
NM_015346.4(ZFYVE26):c.2112T>C (p.Pro704=)
|
rs12891164
|
0.68800
|
NM_001166114.2(PNPLA6):c.1362+8T>C
|
rs620744
|
0.68799
|
NM_001135674.2(SMIM19):c.-517C>T
|
rs2923444
|
0.68776
|
NM_020944.3(GBA2):c.1688-10_1688-9insG
|
rs3833700
|
0.68762
|
NM_015346.4(ZFYVE26):c.887-38T>C
|
rs181576
|
0.68717
|
NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=)
|
rs910857
|
0.68551
|
NM_017755.6(NSUN2):c.1602-11G>T
|
rs2303707
|
0.68523
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=)
|
rs7613447
|
0.68442
|
NM_001378615.1(CC2D2A):c.3288+41A>C
|
rs13116304
|
0.68417
|
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg)
|
rs3747517
|
0.68382
|
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=)
|
rs6491066
|
0.68336
|
NM_016169.4(SUFU):c.1365+19T>C
|
rs12414407
|
0.68248
|
NM_004184.4(WARS1):c.826+6A>G
|
rs941923
|
0.68233
|
NM_017619.4(RNPC3):c.359+16A>G
|
rs6702220
|
0.68079
|
NM_000368.5(TSC1):c.*3679G>A
|
rs1050700
|
0.68068
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_003070.5(SMARCA2):c.4360-79A>G
|
rs2281786
|
0.68018
|
NM_015215.4(CAMTA1):c.4689+56A>G
|
rs12133253
|
0.67987
|
NM_138959.3(VANGL1):c.*505A>G
|
rs6700610
|
0.67885
|
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)
|
rs11080572
|
0.67857
|
NM_000170.3(GLDC):c.*473C>T
|
rs1061407
|
0.67774
|
NM_006610.4(MASP2):c.1479C>T (p.Ser493=)
|
rs1782455
|
0.67756
|
NM_004385.5(VCAN):c.4323G>A (p.Gln1441=)
|
rs2548541
|
0.67722
|
NM_013275.6(ANKRD11):c.745-84C>T
|
rs2353028
|
0.67687
|
NM_006796.3(AFG3L2):c.752+6C>T
|
rs8097342
|
0.67671
|
NM_004184.4(WARS1):c.1003C>T (p.Leu335=)
|
rs9453
|
0.67569
|
NM_006345.4(SLC30A9):c.9C>G (p.Pro3=)
|
rs2581434
|
0.67490
|
NM_153033.5(KCTD7):c.*944C>G
|
rs9791712
|
0.67438
|
NM_153033.5(KCTD7):c.*2656A>G
|
rs1860469
|
0.67430
|
NM_153033.5(KCTD7):c.*979C>A
|
rs9791713
|
0.67429
|
NM_001145358.2(SIN3A):c.3592-21T>A
|
rs7403118
|
0.67414
|
NM_020745.4(AARS2):c.2607G>A (p.Lys869=)
|
rs498512
|
0.67400
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
NM_017872.5(THG1L):c.695T>C (p.Leu232Pro)
|
rs2270812
|
0.67301
|
NM_032581.4(HYCC1):c.*384A>G
|
rs2286494
|
0.67241
|
NM_001543.5(NDST1):c.1097-28T>C
|
rs2545341
|
0.67102
|
NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67099
|
NM_005573.4(LMNB1):c.*43T>C
|
rs1051643
|
0.66941
|
NM_006612.6(KIF1C):c.2748A>G (p.Pro916=)
|
rs346828
|
0.66831
|
NM_001447.3(FAT2):c.12350C>T (p.Pro4117Leu)
|
rs1105168
|
0.66830
|
NM_020821.3(VPS13C):c.2921G>A (p.Arg974Lys)
|
rs3784634
|
0.66808
|
NM_013275.6(ANKRD11):c.2912C>T (p.Ala971Val)
|
rs2279348
|
0.66687
|
NM_006070.6(TFG):c.846T>C (p.Pro282=)
|
rs11353
|
0.66628
|
NM_000170.3(GLDC):c.*7G>C
|
rs2228098
|
0.66615
|
NM_000108.5(DLD):c.*487C>T
|
rs4518
|
0.66588
|
NM_006618.5(KDM5B):c.2184C>T (p.Tyr728=)
|
rs1141108
|
0.66577
|
NM_006618.5(KDM5B):c.747G>A (p.Thr249=)
|
rs3196669
|
0.66570
|
NM_000815.5(GABRD):c.330T>C (p.Gly110=)
|
rs2229110
|
0.66530
|
NM_007262.5(PARK7):c.-99T>C
|
rs226249
|
0.66453
|
NM_002860.4(ALDH18A1):c.304-34A>G
|
rs2275273
|
0.66239
|
NM_000108.5(DLD):c.*978T>C
|
rs2158835
|
0.66205
|
NM_000108.5(DLD):c.*1451T>C
|
rs2108223
|
0.66202
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_032776.3(JMJD1C):c.6789C>T (p.Asp2263=)
|
rs3211105
|
0.66170
|
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=)
|
rs7580482
|
0.66162
|
NM_001127222.2(CACNA1A):c.2173-12C>T
|
rs16018
|
0.66161
|
NM_003754.3(EIF3F):c.561C>T (p.His187=)
|
rs4758267
|
0.66119
|
NM_080632.3(UPF3B):c.264-34G>A
|
rs2428212
|
0.66050
|
NM_000108.5(DLD):c.199-108T>C
|
rs10250718
|
0.66040
|
NM_001103146.3(GIGYF2):c.3461-9G>A
|
rs2305137
|
0.66032
|
NM_002618.4(PEX13):c.*2147A>G
|
rs2564097
|
0.66023
|
NM_025136.4(OPA3):c.*152G>A
|
rs3826861
|
0.66011
|
NM_144599.5(NIPA1):c.441A>G (p.Thr147=)
|
rs11263683
|
0.65973
|
NM_005051.3(QARS1):c.977-13C>A
|
rs4521268
|
0.65945
|
NM_000108.5(DLD):c.*207G>A
|
rs4564
|
0.65906
|
NM_130837.3(OPA1):c.*1343A>G
|
rs1056366
|
0.65902
|
NM_000310.4(PPT1):c.*526_*529dup
|
rs397730033
|
0.65899
|
NM_021098.3(CACNA1H):c.4278A>G (p.Ser1426=)
|
rs2753325
|
0.65866
|
NM_015294.6(TRIM37):c.-340T>G
|
rs7503190
|
0.65862
|
NM_001080414.4(CCDC88C):c.4630+78G>T
|
rs2277509
|
0.65846
|
NM_021098.3(CACNA1H):c.4275A>G (p.Ser1425=)
|
rs2753326
|
0.65842
|
NM_016529.6(ATP8A2):c.1185+71A>G
|
rs7332442
|
0.65665
|
NM_032776.3(JMJD1C):c.168+11C>G
|
rs1061259
|
0.65532
|
NM_033305.3(VPS13A):c.8105+81G>A
|
rs7043232
|
0.65470
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
NM_032808.7(LINGO1):c.714G>C (p.Leu238=)
|
rs2271396
|
0.65067
|
NM_052876.4(NACC1):c.*24A>G
|
rs8112067
|
0.65020
|
NM_001044385.3(TMEM237):c.274+23A>G
|
rs1208081
|
0.64988
|
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His)
|
rs1054645
|
0.64981
|
NM_032808.7(LINGO1):c.474A>G (p.Leu158=)
|
rs2271397
|
0.64965
|
NM_018129.4(PNPO):c.*904A>G
|
rs1962201
|
0.64931
|
NM_001145809.2(MYH14):c.5469+16C>T
|
rs3745510
|
0.64922
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
NM_032808.7(LINGO1):c.465C>T (p.Ile155=)
|
rs2271398
|
0.64821
|
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)
|
rs4407724
|
0.64816
|
NM_002291.3(LAMB1):c.5225-7C>T
|
rs3213673
|
0.64814
|
NM_021098.3(CACNA1H):c.5730C>T (p.Asp1910=)
|
rs2745136
|
0.64782
|
NM_003477.3(PDHX):c.*486G>T
|
rs9326
|
0.64744
|
NM_002857.4(PEX19):c.594+37T>C
|
rs2795067
|
0.64655
|
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)
|
rs6923864
|
0.64620
|
NM_207346.3(TSEN54):c.285+32C>A
|
rs7218675
|
0.64612
|
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)
|
rs6432901
|
0.64588
|
NM_017619.4(RNPC3):c.342C>T (p.Gly114=)
|
rs6697444
|
0.64524
|
NM_000405.5(GM2A):c.*944T>C
|
rs149174
|
0.64518
|
NM_182961.4(SYNE1):c.19471-18C>T
|
rs6557210
|
0.64435
|
NM_001127222.2(CACNA1A):c.1198+48G>A
|
rs2306348
|
0.64420
|
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)
|
rs914428
|
0.64398
|
NM_001324418.2(ADAM22):c.242C>G (p.Pro81Arg)
|
rs2279542
|
0.64390
|
NM_000310.4(PPT1):c.362+61C>T
|
rs6672053
|
0.64379
|
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)
|
rs1763347
|
0.64340
|
NM_022101.4(STEEP1):c.375C>T (p.Gly125=)
|
rs5910611
|
0.64193
|
NM_144599.5(NIPA1):c.*972C>T
|
rs8025849
|
0.64186
|
NM_173728.4(ARHGEF15):c.2491T>C (p.Ser831Pro)
|
rs3744647
|
0.64122
|
NM_177924.5(ASAH1):c.457+45A>G
|
rs2073574
|
0.64032
|
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069
|
0.64010
|
NM_001845.6(COL4A1):c.3877-9C>T
|
rs589985
|
0.63996
|
NM_153252.5(BRWD3):c.*6862T>C
|
rs2063579
|
0.63956
|
NM_000810.4(GABRA5):c.606T>C (p.Val202=)
|
rs140682
|
0.63947
|
NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=)
|
rs2738893
|
0.63925
|
NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=)
|
rs3745509
|
0.63924
|
NM_006308.3(HSPB3):c.369T>C (p.Gly123=)
|
rs7823
|
0.63826
|
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)
|
rs8064529
|
0.63819
|
NM_183075.3(CYP2U1):c.1127-17T>C
|
rs6856745
|
0.63755
|
NM_001371986.1(UNC80):c.9069G>A (p.Gln3023=)
|
rs2075117
|
0.63732
|
NM_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala)
|
rs17855830
|
0.63679
|
NM_001846.4(COL4A2):c.-277A>C
|
rs7989823
|
0.63352
|
NM_006345.4(SLC30A9):c.366C>A (p.Gly122=)
|
rs15857
|
0.63291
|
NM_006345.4(SLC30A9):c.527+35A>G
|
rs13107768
|
0.63270
|
NM_183381.3(RNF13):c.789C>T (p.His263=)
|
rs6768054
|
0.63113
|
NM_001172509.2(SATB2):c.474-35G>C
|
rs1348813
|
0.63041
|
NM_002887.4(RARS1):c.7G>A (p.Val3Ile)
|
rs244903
|
0.62998
|
NM_006070.6(TFG):c.184+39A>T
|
rs9824942
|
0.62995
|
NM_033629.6(TREX1):c.531T>C (p.Tyr177=)
|
rs11797
|
0.62991
|
NM_032776.3(JMJD1C):c.1390T>A (p.Ser464Thr)
|
rs10761725
|
0.62834
|
NM_001127644.2(GABRA1):c.1059+15G>A
|
rs2279020
|
0.62825
|
NM_013275.6(ANKRD11):c.7470+72C>T
|
rs3096305
|
0.62824
|
NM_001242896.3(DEPDC5):c.1666+214A>C
|
rs5749334
|
0.62803
|
NM_018723.4(RBFOX1):c.-64+166491C>A
|
rs7187508
|
0.62707
|
NM_001271.4(CHD2):c.2728-53G>A
|
rs2272461
|
0.62681
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=)
|
rs2235613
|
0.62539
|
NM_001195248.2(APTX):c.484-13G>T
|
rs10123944
|
0.62521
|
NM_000414.4(HSD17B4):c.1767+57C>T
|
rs2636961
|
0.62409
|
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)
|
rs303815
|
0.62374
|
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)
|
rs4935
|
0.62369
|
NM_000744.7(CHRNA4):c.*534C>T
|
rs2236196
|
0.62296
|
NM_016023.5(OTUD6B):c.316-11G>C
|
rs11786324
|
0.62291
|
NM_006345.4(SLC30A9):c.274+38C>G
|
rs2581453
|
0.62290
|
NM_015215.4(CAMTA1):c.3658+104T>A
|
rs1417986
|
0.62279
|
NM_000405.5(GM2A):c.175A>G (p.Ile59Val)
|
rs153477
|
0.62259
|
NM_001330260.2(SCN8A):c.4795+1141G>A
|
rs671255
|
0.62236
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62211
|
NM_014334.4(FRRS1L):c.710-21T>C
|
rs10759329
|
0.62189
|
NM_018052.5(VAC14):c.1662-47C>G
|
rs9673700
|
0.62185
|
NM_003793.4(CTSF):c.1401T>C (p.Arg467=)
|
rs572846
|
0.62182
|
NM_001103146.3(GIGYF2):c.3630_3632del (p.Gln1216del)
|
rs10555297
|
0.62170
|
NM_003793.4(CTSF):c.762G>A (p.Arg254=)
|
rs545009
|
0.62158
|
NM_003793.4(CTSF):c.219T>C (p.Gly73=)
|
rs1127894
|
0.62142
|
NM_006297.3(XRCC1):c.1896A>G (p.Gln632=)
|
rs3547
|
0.62026
|
NM_022124.6(CDH23):c.1134+164C>G
|
rs7903772
|
0.61986
|
NM_003719.5(PDE8B):c.*64G>A
|
rs40594
|
0.61909
|
NM_198578.4(LRRK2):c.*979T>C
|
rs10784548
|
0.61859
|
NM_198578.4(LRRK2):c.*736G>C
|
rs1365770
|
0.61834
|
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr)
|
rs3761863
|
0.61824
|
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg)
|
rs2229857
|
0.61729
|
NM_198578.4(LRRK2):c.*384C>T
|
rs3886747
|
0.61718
|
NM_001134232.2(TMEM106B):c.687-11A>G
|
rs3800842
|
0.61711
|
NM_198578.4(LRRK2):c.*364A>C
|
rs10878441
|
0.61691
|
NM_015973.5(GAL):c.*15T>C
|
rs1042577
|
0.61580
|
NM_001385875.1(ZFYVE27):c.665-20G>T
|
rs3750614
|
0.61549
|
NM_017872.5(THG1L):c.628-6T>C
|
rs2270813
|
0.61536
|
NM_014271.4(IL1RAPL1):c.-19G>A
|
rs6526806
|
0.61514
|
NM_198994.3(TGM6):c.850+12G>A
|
rs2076404
|
0.61481
|
NM_000021.4(PSEN1):c.868+16G>T
|
rs165932
|
0.61457
|
NM_144992.5(VWA3B):c.2029C>G (p.Leu677Val)
|
rs7601049
|
0.61386
|
NM_130837.3(OPA1):c.*283A>G
|
rs1061648
|
0.61309
|
NM_000021.4(PSEN1):c.*1147C>T
|
rs165935
|
0.61302
|
NM_005149.3(TBX19):c.728-45G>A
|
rs4656579
|
0.61272
|
NM_001365088.1(SLC12A6):c.*1047A>G
|
rs4780233
|
0.61133
|
NM_016529.6(ATP8A2):c.2008-4G>C
|
rs7335339
|
0.61047
|
NM_001372574.1(ATXN2):c.-91C>T
|
rs695872
|
0.61029
|
NM_001378778.1(MPDZ):c.4807+14A>G
|
rs2297003
|
0.61011
|
NM_020821.3(VPS13C):c.7638+38C>T
|
rs963024
|
0.61010
|
NM_007347.5(AP4E1):c.542+59G>A
|
rs2306332
|
0.60959
|
NM_002887.4(RARS1):c.478+40C>G
|
rs2432642
|
0.60953
|
NM_006618.5(KDM5B):c.1887C>T (p.His629=)
|
rs1892164
|
0.60950
|
NM_001372574.1(ATXN2):c.-162C>G
|
rs695871
|
0.60874
|
NM_018052.5(VAC14):c.1306-7C>T
|
rs2305689
|
0.60841
|
NM_001365088.1(SLC12A6):c.3003C>T (p.Leu1001=)
|
rs4577050
|
0.60784
|
NM_057174.2(PEX16):c.*434G>A
|
rs2280329
|
0.60761
|
NM_001365088.1(SLC12A6):c.1492+45C>T
|
rs10851964
|
0.60740
|
NM_004056.6(CA8):c.-54A>C
|
rs10101374
|
0.60710
|
NM_004056.6(CA8):c.100+85T>C
|
rs7002871
|
0.60674
|
NM_021625.5(TRPV4):c.670A>C (p.Arg224=)
|
rs3825394
|
0.60669
|
NM_004056.6(CA8):c.-103T>C
|
rs10086341
|
0.60622
|
NM_014053.4(FLVCR1):c.*1151A>G
|
rs6682947
|
0.60512
|
NM_014053.4(FLVCR1):c.*339T>G
|
rs12074192
|
0.60505
|
NM_002887.4(RARS1):c.181-41T>A
|
rs184957
|
0.60435
|
NM_024528.4(NKAP):c.923+6C>T
|
rs194302
|
0.60390
|
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)
|
rs7216673
|
0.60248
|
NM_020987.5(ANK3):c.13066-33T>A
|
rs9888033
|
0.60093
|
NM_001182.5(ALDH7A1):c.*807C>G
|
rs1807
|
0.60056
|
NM_001195248.2(APTX):c.-5+116G>T
|
rs1197774
|
0.59987
|
NM_001429.4(EP300):c.3183T>A (p.Thr1061=)
|
rs20552
|
0.59984
|
NM_006345.4(SLC30A9):c.148A>G (p.Met50Val)
|
rs1047626
|
0.59975
|
NM_014053.4(FLVCR1):c.*1609A>G
|
rs12405742
|
0.59824
|
NM_004565.3(PEX14):c.84+8231A>G
|
rs10864459
|
0.59806
|
NM_003477.3(PDHX):c.858T>C (p.Val286=)
|
rs497582
|
0.59662
|
NM_018052.5(VAC14):c.1306-27G>A
|
rs2305690
|
0.59646
|
NM_006908.5(RAC1):c.107+27C>T
|
rs702483
|
0.59625
|
NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys)
|
rs7990383
|
0.59592
|
NM_001386140.1(MTTP):c.*1046C>G
|
rs1061271
|
0.59509
|
NM_006279.5(ST3GAL3):c.1039-18C>T
|
rs2108202
|
0.59490
|
NM_032737.4(LMNB2):c.1416T>C (p.Gly472=)
|
rs11084940
|
0.59479
|
NM_020987.5(ANK3):c.2479-74T>C
|
rs11814723
|
0.59464
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
NM_015346.4(ZFYVE26):c.4373-35G>A
|
rs2235962
|
0.59379
|
NM_000370.3(TTPA):c.663+11T>C
|
rs4501570
|
0.59337
|
NM_020988.3(GNAO1):c.464+22T>C
|
rs2241952
|
0.59320
|
NM_182961.4(SYNE1):c.11734-5T>G
|
rs9478320
|
0.59305
|
NM_001127222.2(CACNA1A):c.4867-71A>C
|
rs16035
|
0.59301
|
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)
|
rs1801475
|
0.59301
|
NM_001352514.2(HLCS):c.1893-46G>T
|
rs2073421
|
0.59296
|
NM_000370.3(TTPA):c.*1093G>A
|
rs4587328
|
0.59276
|
NM_005883.3(APC2):c.413+95T>C
|
rs12985827
|
0.59265
|
NM_000153.4(GALC):c.196-43C>T
|
rs2289511
|
0.59150
|
NM_001205293.3(CACNA1E):c.1316-13T>C
|
rs7540850
|
0.59094
|
NM_003477.2(PDHX):c.-88C>A
|
rs2956110
|
0.59089
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
NM_000033.4(ABCD1):c.1992-32C>T
|
rs4898368
|
0.59030
|
NM_001098511.3(KIF2A):c.1027+21A>T
|
rs247266
|
0.58913
|
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala)
|
rs891398
|
0.58886
|
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln)
|
rs3772165
|
0.58882
|
NM_014236.4(GNPAT):c.915G>A (p.Glu305=)
|
rs574553
|
0.58786
|
NM_001846.4(COL4A2):c.1777-7C>T
|
rs3803236
|
0.58770
|
NM_173728.4(ARHGEF15):c.1704+12A>G
|
rs2270445
|
0.58634
|
NM_007325.5(GRIA3):c.751-16T>C
|
rs550640
|
0.58620
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
NM_152617.4(RNF168):c.559-46A>G
|
rs7646174
|
0.58484
|
NM_020335.3(VANGL2):c.1137A>G (p.Lys379=)
|
rs12086448
|
0.58424
|
NM_000795.4(DRD2):c.939T>C (p.His313=)
|
rs6275
|
0.58390
|
NM_000702.4(ATP1A2):c.748+84T>A
|
rs7548116
|
0.58333
|
NM_178013.4(PRIMA1):c.420G>A (p.Ser140=)
|
rs1887197
|
0.58297
|
NM_173728.4(ARHGEF15):c.830T>C (p.Leu277Pro)
|
rs871841
|
0.58202
|
NM_030665.4(RAI1):c.1992G>A (p.Pro664=)
|
rs8067439
|
0.58185
|
NM_001846.4(COL4A2):c.1488G>A (p.Pro496=)
|
rs7990214
|
0.58092
|
NM_018896.5(CACNA1G):c.1141-29A>G
|
rs198550
|
0.58075
|
NM_001070.5(TUBG1):c.1029C>G (p.Arg343=)
|
rs1045710
|
0.58061
|
NM_001166114.2(PNPLA6):c.3398-36G>A
|
rs535208
|
0.58035
|
NM_001256864.2(DNAJC6):c.194-21G>T
|
rs2296478
|
0.58031
|
NM_006517.5(SLC16A2):c.1399+43T>G
|
rs5937843
|
0.57946
|
NM_001365088.1(SLC12A6):c.*3403G>A
|
rs4530104
|
0.57931
|
NM_173500.4(TTBK2):c.-250G>C
|
rs12437637
|
0.57925
|
NM_003730.6(RNASET2):c.-227G>T
|
rs1044059
|
0.57840
|
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=)
|
rs502434
|
0.57798
|
NM_001032382.2(PQBP1):c.180-3C>T
|
rs741932
|
0.57792
|
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)
|
rs9397102
|
0.57769
|
NM_018896.5(CACNA1G):c.1925-56A>G
|
rs198551
|
0.57767
|
NM_001257291.2(SLC9A7):c.1827C>T (p.Tyr609=)
|
rs3208940
|
0.57691
|
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=)
|
rs310617
|
0.57688
|
NM_004722.4(AP4M1):c.544-75T>C
|
rs4729577
|
0.57574
|
NM_004722.4(AP4M1):c.147+35T>C
|
rs2293481
|
0.57556
|
NM_000287.4(PEX6):c.2667-48G>A
|
rs2274517
|
0.57547
|
NM_025136.4(OPA3):c.*6012A>G
|
rs11083772
|
0.57481
|
NM_182961.4(SYNE1):c.11580+15C>T
|
rs6908392
|
0.57402
|
NM_017882.3(CLN6):c.198+104T>C
|
rs8025947
|
0.57324
|
NM_001854.4(COL11A1):c.2611-19A>C
|
rs11164649
|
0.57301
|
NM_006087.4(TUBB4A):c.*673A>G
|
rs1053377
|
0.57285
|
NM_003659.4(AGPS):c.1608-95T>A
|
rs2364854
|
0.57249
|
NM_001160372.4(TRAPPC9):c.2557-13T>A
|
rs9792174
|
0.57247
|
NM_001256864.2(DNAJC6):c.194-19T>G
|
rs2296479
|
0.57220
|
NM_020822.3(KCNT1):c.600+59A>C
|
rs59909130
|
0.57178
|
NM_007347.5(AP4E1):c.222+48_222+49insT
|
rs3214932
|
0.57174
|
NM_144599.5(NIPA1):c.*4933C>T
|
rs7181789
|
0.57163
|
NM_007347.5(AP4E1):c.346+50G>C
|
rs2663553
|
0.57162
|
NM_015192.4(PLCB1):c.1167+16G>A
|
rs2295179
|
0.57134
|
NM_001845.6(COL4A1):c.859-10T>C
|
rs677877
|
0.57082
|
NM_001378615.1(CC2D2A):c.*21G>C
|
rs1134634
|
0.57021
|
NM_006059.4(LAMC3):c.219T>G (p.His73Gln)
|
rs3739512
|
0.56936
|
NM_001080414.4(CCDC88C):c.3966+12G>A
|
rs3742656
|
0.56935
|
NM_001145809.2(MYH14):c.657G>A (p.Ala219=)
|
rs4801822
|
0.56915
|
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)
|
rs6923492
|
0.56892
|
NM_002693.3(POLG):c.2071-22T>C
|
rs2072267
|
0.56891
|
NM_000287.4(PEX6):c.1961+20G>A
|
rs2274514
|
0.56870
|
NM_012193.4(FZD4):c.*4664T>C
|
rs713065
|
0.56868
|
NM_000287.4(PEX6):c.1885-24G>A
|
rs3818554
|
0.56866
|
NM_001257291.2(SLC9A7):c.144G>C (p.Ala48=)
|
rs1056846
|
0.56828
|
NM_001845.6(COL4A1):c.903+18G>A
|
rs482757
|
0.56804
|
NM_019842.4(KCNQ5):c.123C>G (p.Ser41=)
|
rs3734212
|
0.56776
|
NM_001845.6(COL4A1):c.780+7G>A
|
rs598893
|
0.56762
|
NM_000287.4(PEX6):c.2814G>A (p.Glu938=)
|
rs1129186
|
0.56758
|
NM_015215.4(CAMTA1):c.510+35T>C
|
rs1201529
|
0.56733
|
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=)
|
rs7216
|
0.56713
|
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)
|
rs6747673
|
0.56670
|
NM_007347.5(AP4E1):c.222+18G>A
|
rs1147129
|
0.56600
|
NM_006908.5(RAC1):c.225+18C>T
|
rs836478
|
0.56557
|
NM_001365536.1(SCN9A):c.2105-14C>T
|
rs6432893
|
0.56480
|
NC_000011.10:g.2172610A>G
|
rs10770141
|
0.56453
|
NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=)
|
rs11176013
|
0.56443
|
NM_020821.3(VPS13C):c.6038+16G>A
|
rs9788670
|
0.56416
|
NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=)
|
rs10878371
|
0.56374
|
NM_144992.5(VWA3B):c.2653G>A (p.Val885Met)
|
rs11889349
|
0.56331
|
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=)
|
rs1970912
|
0.56314
|
NM_032409.3(PINK1):c.*265G>T
|
rs512550
|
0.56246
|
NM_018075.5(ANO10):c.1293+9A>G
|
rs7616708
|
0.56196
|
NM_001040142.2(SCN2A):c.1672-16C>T
|
rs1867864
|
0.56164
|
NM_022089.4(ATP13A2):c.705+228A>G
|
rs2871776
|
0.56136
|
NM_001846.4(COL4A2):c.3877+29G>A
|
rs2281968
|
0.56117
|
NM_002025.4(AFF2):c.3623+57G>A
|
rs12688573
|
0.56066
|
NM_001367534.1(CAMK2G):c.696+102_696+103insA
|
rs3214931
|
0.55999
|
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)
|
rs3735801
|
0.55959
|
NM_001482.3(GATM):c.*940C>T
|
rs1049518
|
0.55910
|
NM_002913.5(RFC1):c.2541A>G (p.Pro847=)
|
rs2066786
|
0.55849
|
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)
|
rs3735802
|
0.55845
|
NM_004268.5(MED17):c.195C>G (p.Gly65=)
|
rs7116967
|
0.55835
|
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)
|
rs4645434
|
0.55815
|
NM_001482.3(GATM):c.1252T>C (p.Leu418=)
|
rs1145086
|
0.55793
|
NM_178138.6(LHX3):c.776-90C>T
|
rs7860634
|
0.55589
|
NM_015215.4(CAMTA1):c.2914+6A>G
|
rs3011926
|
0.55520
|
NM_001846.4(COL4A2):c.*76T>C
|
rs422733
|
0.55467
|
NM_015028.4(TNIK):c.63C>T (p.Pro21=)
|
rs3796295
|
0.55370
|
NM_001161352.2(KCNMA1):c.2015+37C>T
|
rs16934182
|
0.55282
|
NM_001205293.3(CACNA1E):c.3731+56C>T
|
rs704332
|
0.55277
|
NM_001069.3(TUBB2A):c.564T>G (p.Ser188=)
|
rs17849443
|
0.55272
|
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=)
|
rs9373491
|
0.55222
|
NM_000521.4(HEXB):c.-126C>T
|
rs71627068
|
0.55186
|
NM_000521.4(HEXB):c.-122del
|
rs70976124
|
0.55177
|
NM_001352514.2(HLCS):c.1438-36G>A
|
rs2073425
|
0.55169
|
NM_004268.5(MED17):c.207G>C (p.Glu69Asp)
|
rs2848477
|
0.55147
|
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=)
|
rs2076603
|
0.55111
|
NM_004171.4(SLC1A2):c.731-8T>C
|
rs2273689
|
0.55092
|
NM_004385.5(VCAN):c.*1429A>G
|
rs11726
|
0.54953
|
NM_007126.5(VCP):c.1695+8A>G
|
rs684562
|
0.54947
|
NM_020919.4(ALS2):c.2171-62C>T
|
rs3731703
|
0.54921
|
NM_000368.5(TSC1):c.*1322C>T
|
rs2809243
|
0.54889
|
NM_006261.5(PROP1):c.109+3G>A
|
rs4072924
|
0.54780
|
NM_198859.4(PRICKLE2):c.*695A>C
|
rs26937
|
0.54681
|
NM_000447.3(PSEN2):c.1191+24G>A
|
rs2855562
|
0.54601
|
NM_014236.4(GNPAT):c.-44C>T
|
rs518686
|
0.54529
|
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT
|
rs3085861
|
0.54222
|
NM_001127222.2(CACNA1A):c.5731+49C>T
|
rs3816027
|
0.54210
|
NM_052867.4(NALCN):c.800-35G>A
|
rs570252
|
0.54204
|
NM_130837.3(OPA1):c.*1113C>T
|
rs12630
|
0.54101
|
NM_020821.3(VPS13C):c.10338+34C>T
|
rs12708469
|
0.54085
|
NM_020821.3(VPS13C):c.8738G>A (p.Ser2913Asn)
|
rs10851704
|
0.54075
|
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)
|
rs6647476
|
0.54054
|
NM_018718.3(CEP41):c.*5102G>A
|
rs1990790
|
0.54035
|
NM_152309.3(PIK3AP1):c.1773G>A (p.Ser591=)
|
rs3748234
|
0.54017
|
NM_032108.4(SEMA6B):c.1601+24C>T
|
rs4807602
|
0.54013
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
NM_000755.5(CRAT):c.984+9C>T
|
rs10988204
|
0.53886
|
NM_199189.2(MATR3):c.-610C>G
|
rs11242456
|
0.53822
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_021098.3(CACNA1H):c.4039-20G>A
|
rs2738897
|
0.53797
|
NM_017777.4(MKS1):c.750-105T>C
|
rs3744105
|
0.53777
|
NM_004035.7(ACOX1):c.936C>G (p.Ile312Met)
|
rs1135640
|
0.53769
|
NM_006308.3(HSPB3):c.282G>A (p.Leu94=)
|
rs7699
|
0.53709
|
NM_001776.6(ENTPD1):c.263-10T>C
|
rs3181131
|
0.53695
|
NM_001127222.2(CACNA1A):c.4089+71T>C
|
rs16031
|
0.53636
|
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr)
|
rs13119545
|
0.53595
|
NM_004035.7(ACOX1):c.658+45A>G
|
rs10852766
|
0.53593
|
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=)
|
rs3809871
|
0.53472
|
NM_001447.3(FAT2):c.9213T>A (p.Thr3071=)
|
rs1432643
|
0.53410
|
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=)
|
rs2292597
|
0.53313
|
NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=)
|
rs3745504
|
0.53291
|
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)
|
rs4797
|
0.53290
|
NM_020821.3(VPS13C):c.283+29A>G
|
rs2414758
|
0.53243
|
NM_004813.4(PEX16):c.*303C>T
|
rs10838529
|
0.53226
|
NM_005993.5(TBCD):c.3281+17G>A
|
rs8079398
|
0.53119
|
NM_020247.4(COQ8A):c.*815C>T
|
rs10495274
|
0.53093
|
NM_033305.3(VPS13A):c.9400-34A>T
|
rs2025846
|
0.53041
|
NM_001378615.1(CC2D2A):c.1765-24A>G
|
rs1861044
|
0.52969
|
NM_001371279.1(REEP1):c.33-23A>C
|
rs1863059
|
0.52882
|
NM_033305.3(VPS13A):c.3961-22A>G
|
rs2275549
|
0.52711
|
NM_033305.3(VPS13A):c.*1024C>T
|
rs9186
|
0.52644
|
NM_021927.3(GUF1):c.173T>C (p.Leu58Pro)
|
rs6447368
|
0.52633
|
NM_021927.3(GUF1):c.1872+23T>G
|
rs6851576
|
0.52617
|
NM_001182.5(ALDH7A1):c.*2499G>A
|
rs7715516
|
0.52610
|
NM_000170.3(GLDC):c.1850+87T>A
|
rs968197
|
0.52530
|
NM_016630.7(SPG21):c.64-36A>G
|
rs4776659
|
0.52524
|
NM_007118.4(TRIO):c.5497-48C>T
|
rs27100
|
0.52401
|
NM_138775.3(ALKBH8):c.878+31T>A
|
rs589788
|
0.52394
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=)
|
rs3734441
|
0.52321
|
NM_016630.7(SPG21):c.-213C>T
|
rs11071822
|
0.52314
|
NM_001127649.3(PEX26):c.*1265T>A
|
rs456551
|
0.52154
|
NM_002913.5(RFC1):c.2808+36C>G
|
rs2066788
|
0.52121
|
NM_016529.6(ATP8A2):c.3183+95C>T
|
rs2249800
|
0.52080
|
NM_001037333.3(CYFIP2):c.1110+41G>C
|
rs393178
|
0.52045
|
NM_001127649.3(PEX26):c.*167G>A
|
rs464385
|
0.52045
|
NM_182961.4(SYNE1):c.3505-39A>C
|
rs502268
|
0.51916
|
NM_005993.5(TBCD):c.1319-43G>A
|
rs3744161
|
0.51908
|
NM_016373.4(WWOX):c.1056+191744T>G
|
rs2548861
|
0.51877
|
NM_153252.5(BRWD3):c.1087-23G>C
|
rs4240018
|
0.51825
|
NM_000370.3(TTPA):c.*1487G>A
|
rs6472068
|
0.51778
|
NM_001385875.1(ZFYVE27):c.-1G>A
|
rs3818876
|
0.51770
|
NM_004056.6(CA8):c.327A>G (p.Glu109=)
|
rs7464181
|
0.51676
|
NM_153033.5(KCTD7):c.-44C>T
|
rs35526611
|
0.51674
|
NM_006922.4(SCN3A):c.2031A>T (p.Thr677=)
|
rs1946892
|
0.51537
|
NM_001182.5(ALDH7A1):c.*1108G>A
|
rs1483780
|
0.51475
|
NM_153033.5(KCTD7):c.*3033T>C
|
rs1860468
|
0.51466
|
NM_018834.6(MATR3):c.*1288T>G
|
rs10515507
|
0.51394
|
NM_004268.5(MED17):c.1329-11G>A
|
rs655699
|
0.51385
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
NM_000414.4(HSD17B4):c.434+120A>G
|
rs463513
|
0.51367
|
NM_001415.4(EIF2S3):c.99C>T (p.His33=)
|
rs36018672
|
0.51303
|
NM_020822.3(KCNT1):c.600+60G>A
|
rs56375931
|
0.51258
|
NM_003000.3(SDHB):c.642+325C>T
|
rs2235930
|
0.51227
|
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)
|
rs627441
|
0.51169
|
NM_022124.6(CDH23):c.1135-128A>G
|
rs10823810
|
0.51167
|
NM_001429.4(EP300):c.4453-23T>C
|
rs2076577
|
0.51146
|
NM_001953.5(TYMP):c.972C>T (p.Ala324=)
|
rs131804
|
0.51130
|
NM_000288.4(PEX7):c.*306T>G
|
rs1050803
|
0.51106
|
NM_017882.3(CLN6):c.*817C>T
|
rs8142
|
0.51081
|
NM_004595.5(SMS):c.170+30C>T
|
rs3747276
|
0.51062
|
NM_003630.3(PEX3):c.942-13A>G
|
rs161058
|
0.51037
|
NM_033305.3(VPS13A):c.101-62A>G
|
rs12552898
|
0.51020
|
NM_000811.3(GABRA6):c.*135C>T
|
rs3219151
|
0.50903
|
NM_000489.6(ATRX):c.2785G>C (p.Glu929Gln)
|
rs3088074
|
0.50884
|
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=)
|
rs2228611
|
0.50821
|
NM_000288.4(PEX7):c.130+48_130+53dup
|
rs11283064
|
0.50803
|
NM_001244008.2(KIF1A):c.*1823C>T
|
rs7566538
|
0.50788
|
NM_001145809.2(MYH14):c.3681-26A>T
|
rs788337
|
0.50766
|
NM_198578.4(LRRK2):c.5949-2490G>A
|
rs6581668
|
0.50703
|
NM_198578.4(LRRK2):c.457T>C (p.Leu153=)
|
rs10878245
|
0.50692
|
NM_021098.3(CACNA1H):c.1809A>G (p.Arg603=)
|
rs9934839
|
0.50649
|
NM_018834.6(MATR3):c.*672G>A
|
rs7305
|
0.50625
|
NM_006087.4(TUBB4A):c.*260G>C
|
rs3099129
|
0.50619
|
NM_001130823.3(DNMT1):c.1832+14A>G
|
rs2114724
|
0.50605
|
NM_015028.4(TNIK):c.744C>T (p.Asn248=)
|
rs12637875
|
0.50558
|
NM_004385.5(VCAN):c.4547A>G (p.Lys1516Arg)
|
rs309559
|
0.50554
|
NM_000318.3(PEX2):c.*2663T>A
|
rs28435921
|
0.50526
|
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_001098175.2(ENTPD1):c.37+43387G>A
|
rs3814159
|
0.50381
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
NM_004068.4(AP2M1):c.1173+73T>C
|
rs843365
|
0.50341
|
NM_022464.5(SIL1):c.153A>G (p.Thr51=)
|
rs3088052
|
0.50252
|
NM_001166114.2(PNPLA6):c.2260+24G>A
|
rs473899
|
0.50240
|
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)
|
rs7624750
|
0.50224
|
NM_145868.2(ANXA11):c.858+45G>A
|
rs9421228
|
0.50220
|
NM_020771.4(HACE1):c.816+4T>A
|
rs6918700
|
0.50198
|
NM_001378457.1(DMXL2):c.4908A>G (p.Gly1636=)
|
rs10851500
|
0.50188
|
NM_001134232.2(TMEM106B):c.554C>G (p.Thr185Ser)
|
rs3173615
|
0.50153
|
NM_001134232.2(TMEM106B):c.686+29T>A
|
rs2302634
|
0.50134
|
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)
|
rs9851685
|
0.50117
|
NM_052867.4(NALCN):c.2118+9T>C
|
rs661585
|
0.50096
|
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)
|
rs3753841
|
0.50032
|
NM_020745.4(AARS2):c.243+6G>A
|
rs167772
|
0.50019
|
NM_001927.4(DES):c.579-38C>T
|
rs12991025
|
0.50005
|
NM_000447.3(PSEN2):c.-356A>G
|
rs12758915
|
0.49997
|
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_005045.4(RELN):c.8046T>C (p.His2682=)
|
rs2229864
|
0.49951
|
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=)
|
rs2942
|
0.49950
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_001161352.2(KCNMA1):c.*1571C>T
|
rs10762733
|
0.49921
|
NM_025233.7(COASY):c.164C>A (p.Ser55Tyr)
|
rs615942
|
0.49854
|
NM_001042646.3(TRAK1):c.1749C>T (p.Ser583=)
|
rs2290134
|
0.49822
|
NM_015166.4(MLC1):c.895-259G>A
|
rs8142282
|
0.49774
|
NM_005993.5(TBCD):c.3191+27T>C
|
rs898095
|
0.49748
|
NM_182961.4(SYNE1):c.9147-13G>A
|
rs214955
|
0.49738
|
NM_152617.4(RNF168):c.1202C>A (p.Pro401Gln)
|
rs3796129
|
0.49737
|
NM_024411.4(PDYN):c.-381A>G
|
rs1997794
|
0.49716
|
NM_016219.5(MAN1B1):c.*384A>G
|
rs4567
|
0.49708
|
NM_016373.4(WWOX):c.1057-40T>C
|
rs384216
|
0.49671
|
NM_005045.4(RELN):c.578-3T>C
|
rs607755
|
0.49658
|
NM_001042646.3(TRAK1):c.2067-12T>C
|
rs3733054
|
0.49622
|
NM_001042646.3(TRAK1):c.2067-41A>G
|
rs3733053
|
0.49601
|
NM_006852.6(TLK2):c.1872A>G (p.Pro624=)
|
rs8078132
|
0.49542
|
NM_004855.5(PIGB):c.523-33T>C
|
rs28459661
|
0.49472
|
NM_025233.7(COASY):c.972A>G (p.Thr324=)
|
rs598126
|
0.49440
|
NM_001378457.1(DMXL2):c.3862T>C (p.Ser1288Pro)
|
rs12102203
|
0.49370
|
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=)
|
rs2229783
|
0.49335
|
NM_003730.6(RNASET2):c.-322T>C
|
rs2247325
|
0.49332
|
NM_001394067.2(RAPGEF2):c.4923C>T (p.Pro1641=)
|
rs1135004
|
0.49329
|
NM_002047.4(GARS1):c.659-43C>A
|
rs1558064
|
0.49314
|
NM_014845.6(FIG4):c.1948+3A>G
|
rs10499054
|
0.49269
|
NM_000447.3(PSEN2):c.*270C>T
|
rs8383
|
0.49189
|
NM_004738.5(VAPB):c.*5250T>C
|
rs6015274
|
0.49186
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
NM_001130823.3(DNMT1):c.3394+34T>C
|
rs2290684
|
0.49102
|
NM_001447.3(FAT2):c.2057T>C (p.Phe686Ser)
|
rs9324700
|
0.49081
|
NM_001447.3(FAT2):c.2631T>C (p.Val877=)
|
rs3734057
|
0.49054
|
NM_001447.3(FAT2):c.774G>A (p.Ser258=)
|
rs3734060
|
0.49039
|
NM_001447.3(FAT2):c.2562G>A (p.Arg854=)
|
rs3734058
|
0.49027
|
NM_001447.3(FAT2):c.2794C>T (p.Leu932=)
|
rs10085060
|
0.49025
|
NM_001447.3(FAT2):c.2361C>T (p.Ile787=)
|
rs3734059
|
0.49009
|
NM_001303052.2(MYT1L):c.2858+74A>G
|
rs4381806
|
0.48985
|
NM_001447.3(FAT2):c.1720C>T (p.Arg574Cys)
|
rs1432862
|
0.48913
|
NM_019023.5(PRMT7):c.1797C>T (p.Thr599=)
|
rs1131933
|
0.48912
|
NM_001846.4(COL4A2):c.-215C>T
|
rs7990017
|
0.48885
|
NM_182961.4(SYNE1):c.12795-12A>G
|
rs9478314
|
0.48867
|
NM_182961.4(SYNE1):c.8177+20A>T
|
rs214943
|
0.48837
|
NM_001846.4(COL4A2):c.1008C>T (p.Pro336=)
|
rs4103
|
0.48817
|
NM_005993.5(TBCD):c.1850T>C (p.Met617Thr)
|
rs2292971
|
0.48782
|
NM_004855.5(PIGB):c.896G>T (p.Trp299Leu)
|
rs678892
|
0.48713
|
NM_015915.5(ATL1):c.1119+149T>G
|
rs6572678
|
0.48687
|
NM_000447.3(PSEN2):c.261C>T (p.His87=)
|
rs1046240
|
0.48653
|
NM_000447.3(PSEN2):c.129C>T (p.Asn43=)
|
rs6759
|
0.48630
|
NM_000447.3(PSEN2):c.142-42G>A
|
rs1295643
|
0.48629
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401
|
0.48477
|
NM_016023.5(OTUD6B):c.141A>G (p.Gln47=)
|
rs11557571
|
0.48470
|
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
|
rs743616
|
0.48362
|
NM_177924.5(ASAH1):c.458-68T>C
|
rs7824644
|
0.48338
|
NM_004183.4(BEST1):c.109T>C (p.Leu37=)
|
rs1800007
|
0.48331
|
NM_004287.5(GOSR2):c.*2337T>C
|
rs1052586
|
0.48306
|
NM_006059.4(LAMC3):c.1932C>T (p.Ser644=)
|
rs12349966
|
0.48282
|
NM_001447.3(FAT2):c.3375C>T (p.Ile1125=)
|
rs2304054
|
0.48264
|
NM_182961.4(SYNE1):c.17346+38C>T
|
rs9371581
|
0.48251
|
NM_004183.3(BEST1):c.-221T>C
|
rs972353
|
0.48222
|
NM_004035.7(ACOX1):c.*679T>C
|
rs3682
|
0.48163
|
NM_001854.4(COL11A1):c.274+42G>C
|
rs11164662
|
0.48053
|
NM_000810.4(GABRA5):c.975C>T (p.Ala325=)
|
rs140685
|
0.48041
|
NM_001288705.3(CSF1R):c.726C>T (p.Thr242=)
|
rs2228422
|
0.47995
|
NM_001165963.4(SCN1A):c.603-91G>A
|
rs3812718
|
0.47979
|
NM_016630.7(SPG21):c.*257=
|
rs7322
|
0.47940
|
NM_001166114.2(PNPLA6):c.3280+38C>T
|
rs489056
|
0.47937
|
NM_001244008.2(KIF1A):c.*3494T>C
|
rs4613
|
0.47918
|
NM_001378457.1(DMXL2):c.27A>G (p.Gly9=)
|
rs2278989
|
0.47808
|
NM_001378457.1(DMXL2):c.81C>T (p.Pro27=)
|
rs2278990
|
0.47740
|
NM_006059.4(LAMC3):c.1631A>G (p.Glu544Gly)
|
rs10901333
|
0.47711
|
NM_018896.5(CACNA1G):c.1141-71C>T
|
rs16949166
|
0.47704
|
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=)
|
rs381309
|
0.47682
|
NM_001142633.3(PIK3R5):c.837C>T (p.His279=)
|
rs394811
|
0.47651
|
NM_021008.4(DEAF1):c.1503+37C>T
|
rs6597996
|
0.47592
|
NM_021008.4(DEAF1):c.1503+78C>T
|
rs6597997
|
0.47539
|
NM_001386140.1(MTTP):c.453T>C (p.Gly151=)
|
rs991811
|
0.47516
|
NM_002609.4(PDGFRB):c.364+44C>T
|
rs740750
|
0.47472
|
NM_033409.4(SLC52A3):c.1197+108C>T
|
rs3746801
|
0.47446
|
NM_001367534.1(CAMK2G):c.275+69A>G
|
rs2250140
|
0.47400
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.47359
|
NM_020822.3(KCNT1):c.434+25C>A
|
rs10122976
|
0.47340
|
NM_182961.4(SYNE1):c.7713-49G>A
|
rs214944
|
0.47302
|
NM_001037333.3(CYFIP2):c.2585+9G>A
|
rs3734028
|
0.47264
|
NM_000391.4(TPP1):c.508+26T>A
|
rs1800738
|
0.47213
|
NM_001386140.1(MTTP):c.891C>G (p.His297Gln)
|
rs2306985
|
0.47212
|
NM_001220.5(CAMK2B):c.1597+38C>T
|
rs10951758
|
0.47114
|
NM_130837.3(OPA1):c.*2092C>T
|
rs1056390
|
0.46950
|
NM_130837.3(OPA1):c.*2391T>C
|
rs11719309
|
0.46817
|
NM_001378457.1(DMXL2):c.8077-22C>T
|
rs7165887
|
0.46698
|
NM_001378457.1(DMXL2):c.2823C>T (p.Asn941=)
|
rs12592889
|
0.46637
|
NM_020919.4(ALS2):c.2466G>A (p.Val822=)
|
rs2276615
|
0.46627
|
NM_001288705.3(CSF1R):c.84T>C (p.Pro28=)
|
rs216123
|
0.46517
|
NM_018023.5(YEATS2):c.3582+10A>G
|
rs263042
|
0.46511
|
NM_016169.4(SUFU):c.182+16C>T
|
rs2274351
|
0.46492
|
NM_001374828.1(ARID1B):c.2248-35G>A
|
rs3734440
|
0.46405
|
NM_001128126.3(AP4S1):c.139-110A>G
|
rs7150619
|
0.46271
|
NM_000033.4(ABCD1):c.*877C>T
|
rs11803
|
0.46252
|
NM_006950.3(SYN1):c.775-8085A>G
|
rs4898
|
0.46249
|
NM_015981.4(CAMK2A):c.1238-44G>A
|
rs2241695
|
0.46240
|
NM_001145809.2(MYH14):c.2355-14C>T
|
rs12981413
|
0.46235
|
NM_004035.7(ACOX1):c.1936-100C>T
|
rs2666003
|
0.46197
|
NM_004035.7(ACOX1):c.*3872G>A
|
rs2608880
|
0.46181
|
NM_001365088.1(SLC12A6):c.271+41G>C
|
rs347836
|
0.46169
|
NM_001142633.3(PIK3R5):c.657+41T>C
|
rs381198
|
0.46158
|
NM_001447.3(FAT2):c.3010G>A (p.Gly1004Ser)
|
rs3734055
|
0.46145
|
NM_001379500.1(COL18A1):c.*340G>A
|
rs7867
|
0.46140
|
NM_001482.3(GATM):c.*715T>C
|
rs1049508
|
0.46090
|
NM_152743.4(BRAT1):c.128-10A>G
|
rs2164688
|
0.46043
|
NM_004722.4(AP4M1):c.462+34G>A
|
rs999885
|
0.46041
|
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)
|
rs3735803
|
0.45974
|
NM_015915.5(ATL1):c.863-54A>G
|
rs11157759
|
0.45951
|
NM_152743.4(BRAT1):c.2388A>G (p.Glu796=)
|
rs1043291
|
0.45840
|
NM_004204.5(PIGQ):c.639C>T (p.Cys213=)
|
rs4984669
|
0.45828
|
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)
|
rs11120047
|
0.45814
|
NM_001127222.2(CACNA1A):c.293+53G>A
|
rs16003
|
0.45781
|
NM_014053.4(FLVCR1):c.-86C>T
|
rs2201603
|
0.45780
|
NM_014239.4(EIF2B2):c.*180G>C
|
rs4556
|
0.45760
|
NM_138775.3(ALKBH8):c.1288-3C>T
|
rs654093
|
0.45699
|
NM_003719.5(PDE8B):c.*512T>C
|
rs460267
|
0.45685
|
NM_001288705.3(CSF1R):c.2442+23C>T
|
rs216136
|
0.45604
|
NM_003119.4(SPG7):c.618+12T>C
|
rs3803679
|
0.45572
|
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=)
|
rs1635553
|
0.45566
|
NM_152743.4(BRAT1):c.1932A>G (p.Arg644=)
|
rs4719552
|
0.45541
|
NM_004960.4(FUS):c.291C>T (p.Tyr97=)
|
rs1052352
|
0.45484
|
NM_182961.4(SYNE1):c.9651+47C>T
|
rs1873176
|
0.45478
|
NM_000153.4(GALC):c.*590T>C
|
rs1042029
|
0.45472
|
NM_004204.5(PIGQ):c.943-77A>G
|
rs3752568
|
0.45471
|
NM_001127222.2(CACNA1A):c.2280-68C>A
|
rs12985136
|
0.45430
|
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)
|
rs3747562
|
0.45408
|
NM_004204.5(PIGQ):c.1416+142T>G
|
rs2071982
|
0.45406
|
NM_004204.5(PIGQ):c.1416+104C>T
|
rs7192508
|
0.45399
|
NM_000153.4(GALC):c.*1186_*1188del
|
rs141199615
|
0.45391
|
NM_016495.6(TBC1D7):c.193+47G>A
|
rs2439553
|
0.45388
|
NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala)
|
rs2071979
|
0.45338
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
NM_005235.3(ERBB4):c.1490-15T>C
|
rs4673628
|
0.45282
|
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=)
|
rs1063353
|
0.45235
|
NM_020247.5(COQ8A):c.1660-9T>C
|
rs7552783
|
0.45219
|
NM_020247.5(COQ8A):c.854-81A>G
|
rs2297412
|
0.45192
|
NM_003070.5(SMARCA2):c.4253+40G>C
|
rs3793511
|
0.45181
|
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly)
|
rs12732924
|
0.45161
|
NM_014053.4(FLVCR1):c.*2813G>A
|
rs1284854
|
0.45117
|
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_004204.5(PIGQ):c.-9-1501A>G
|
rs12917944
|
0.44962
|
NM_000391.4(TPP1):c.*1588C>T
|
rs7487
|
0.44955
|
NM_004204.5(PIGQ):c.1532-133G>A
|
rs916415
|
0.44955
|
NM_004204.5(PIGQ):c.1532-68G>C
|
rs4984897
|
0.44949
|
NM_004204.5(PIGQ):c.1532-50T>A
|
rs916416
|
0.44947
|
NM_002857.4(PEX19):c.*2156C>G
|
rs10594
|
0.44938
|
NM_004204.5(PIGQ):c.1532-23T>C
|
rs4006748
|
0.44936
|
NM_004204.5(PIGQ):c.1532-15T>C
|
rs62030874
|
0.44935
|
NM_004204.5(PIGQ):c.1532-17del
|
rs67976359
|
0.44933
|
NM_004287.5(GOSR2):c.*1519T>C
|
rs4968286
|
0.44908
|
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr)
|
rs1990760
|
0.44895
|
NM_001447.3(FAT2):c.3491C>T (p.Pro1164Leu)
|
rs2304053
|
0.44875
|
NM_000153.4(GALC):c.1911+122C>G
|
rs45567441
|
0.44852
|
NM_018896.5(CACNA1G):c.6774T>C (p.Pro2258=)
|
rs739925
|
0.44850
|
NM_000153.4(GALC):c.1911+129G>A
|
rs45626938
|
0.44823
|
NM_198904.4(GABRG2):c.*661T>A
|
rs424740
|
0.44730
|
NM_004204.5(PIGQ):c.1336-94C>T
|
rs7191939
|
0.44713
|
NM_031448.6(C19orf12):c.*1114C>G
|
rs1048123
|
0.44699
|
NM_007118.4(TRIO):c.541-20G>A
|
rs30629
|
0.44690
|
NM_198994.3(TGM6):c.*31T>C
|
rs2076652
|
0.44571
|
NM_198994.3(TGM6):c.1968-11C>T
|
rs2076653
|
0.44564
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_015046.7(SETX):c.6655-24G>A
|
rs11243704
|
0.44367
|
NM_018023.5(YEATS2):c.537+48_537+49insG
|
rs3841649
|
0.44331
|
NM_000414.4(HSD17B4):c.1261+47A>G
|
rs455949
|
0.44330
|
NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=)
|
rs4325172
|
0.44325
|
NM_004341.5(CAD):c.4773A>G (p.Ala1591=)
|
rs1141313
|
0.44315
|
NM_002693.3(POLG):c.3483-19T>G
|
rs2307438
|
0.44213
|
NM_001846.4(COL4A2):c.*663T>C
|
rs7711
|
0.44193
|
NM_001351132.2(PEX5):c.*755C>G
|
rs1057225
|
0.44145
|
NM_015474.4(SAMHD1):c.276-105C>A
|
rs6030312
|
0.44115
|
NM_021098.3(CACNA1H):c.1107T>C (p.Ile369=)
|
rs8044363
|
0.44103
|
NM_000754.4(COMT):c.472G>A (p.Val158Met)
|
rs4680
|
0.44044
|
NM_153747.2(PIGC):c.796C>T (p.Pro266Ser)
|
rs1063412
|
0.44041
|
NM_000033.4(ABCD1):c.*894G>A
|
rs1055847
|
0.44006
|
NM_003119.4(SPG7):c.286+46C>T
|
rs3922633
|
0.43914
|
NM_182961.4(SYNE1):c.7029+45T>C
|
rs177330
|
0.43899
|
NM_001367534.1(CAMK2G):c.161-110A>G
|
rs2664282
|
0.43889
|
NM_145725.3(TRAF3):c.386T>C (p.Met129Thr)
|
rs1131877
|
0.43864
|
NM_001367534.1(CAMK2G):c.147G>A (p.Lys49=)
|
rs2675671
|
0.43799
|
NM_005149.3(TBX19):c.*21T>A
|
rs3885717
|
0.43776
|
NM_001182.5(ALDH7A1):c.*1749G>T
|
rs744722
|
0.43746
|
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)
|
rs3803763
|
0.43727
|
NM_001371986.1(UNC80):c.9119-36A>G
|
rs2723222
|
0.43696
|
NM_003924.4(PHOX2B):c.*1364G>A
|
rs6826373
|
0.43664
|
NM_013254.4(TBK1):c.978T>A (p.Ile326=)
|
rs7486100
|
0.43650
|
NM_032808.7(LINGO1):c.1104C>T (p.Ser368=)
|
rs3743481
|
0.43645
|
NM_015346.4(ZFYVE26):c.*1361T>C
|
rs1044126
|
0.43636
|
NM_000368.5(TSC1):c.*1488C>T
|
rs739442
|
0.43524
|
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)
|
rs1131824
|
0.43499
|
NM_004519.4(KCNQ3):c.*3977G>A
|
rs2469628
|
0.43479
|
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)
|
rs2306331
|
0.43394
|
NM_145868.2(ANXA11):c.858+55G>A
|
rs2573348
|
0.43337
|
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=)
|
rs1050351
|
0.43308
|
NM_004738.5(VAPB):c.315+35C>T
|
rs2234487
|
0.43269
|
NM_001205293.3(CACNA1E):c.2298-97C>T
|
rs2280865
|
0.43240
|
NM_000030.3(AGXT):c.846+52G>A
|
rs12695032
|
0.43208
|
NM_001001344.3(ATP2B3):c.1824-58G>A
|
rs2239682
|
0.43153
|
NM_001182.5(ALDH7A1):c.*1748T>A
|
rs744721
|
0.43127
|
NM_021815.5(SLC5A7):c.741+44G>A
|
rs3731683
|
0.43078
|
NM_001844.5(COL2A1):c.2194-55T>C
|
rs3829737
|
0.43071
|
NM_018444.4(PDP1):c.*36T>C
|
rs4735258
|
0.42976
|
NM_001845.6(COL4A1):c.432T>A (p.Ala144=)
|
rs532625
|
0.42890
|
NM_005573.4(LMNB1):c.*239C>T
|
rs1051644
|
0.42884
|
NM_001199107.2(TBC1D24):c.*2910A>T
|
rs4786287
|
0.42768
|
NM_032108.4(SEMA6B):c.39G>C (p.Leu13=)
|
rs2304213
|
0.42756
|
NM_006306.4(SMC1A):c.-19C>T
|
rs1264011
|
0.42752
|
NM_014053.4(FLVCR1):c.*2578G>A
|
rs1284856
|
0.42748
|
NM_014053.4(FLVCR1):c.*2709T>C
|
rs1284855
|
0.42731
|
NM_000742.4(CHRNA2):c.*1701C>A
|
rs1057137
|
0.42655
|
NM_145868.2(ANXA11):c.1335+15T>C
|
rs1079242
|
0.42648
|
NM_007118.4(TRIO):c.4398T>C (p.Asp1466=)
|
rs30774
|
0.42642
|
NM_001329943.3(KIAA0586):c.4495+3795T>C
|
rs28535751
|
0.42605
|
NM_018896.5(CACNA1G):c.489-56T>G
|
rs12946808
|
0.42604
|
NM_001846.4(COL4A2):c.*541C>T
|
rs1049906
|
0.42528
|
NM_032776.3(JMJD1C):c.7605G>C (p.Glu2535Asp)
|
rs1935
|
0.42516
|
NM_001350451.2(RBFOX3):c.622+6A>G
|
rs58352742
|
0.42513
|
NM_001040108.2(MLH3):c.*3148A>G
|
rs108621
|
0.42508
|
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)
|
rs3818717
|
0.42485
|
NM_177924.5(ASAH1):c.303+53T>G
|
rs4921567
|
0.42485
|
NM_002860.4(ALDH18A1):c.1606-48T>G
|
rs2296692
|
0.42481
|
NM_002860.4(ALDH18A1):c.2207-46G>A
|
rs7099284
|
0.42467
|
NM_022124.6(CDH23):c.832+101G>A
|
rs6480531
|
0.42446
|
NM_004933.3(CDH15):c.1971A>G (p.Gln657=)
|
rs3815615
|
0.42410
|
NM_177924.5(ASAH1):c.214G>A (p.Val72Met)
|
rs1071645
|
0.42367
|
NM_020771.4(HACE1):c.76+7C>T
|
rs2499655
|
0.42365
|
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val)
|
rs1049874
|
0.42365
|
NM_177924.5(ASAH1):c.126-21A>G
|
rs12547845
|
0.42360
|
NM_177924.5(ASAH1):c.126-100C>T
|
rs12549594
|
0.42357
|
NM_004519.4(KCNQ3):c.*3032A>G
|
rs2469626
|
0.42325
|
NM_000170.3(GLDC):c.2839-57A>G
|
rs2282160
|
0.42304
|
NM_177924.5(ASAH1):c.126-1873G>A
|
rs3753115
|
0.42287
|
NM_001182.5(ALDH7A1):c.*68A>G
|
rs2775
|
0.42285
|
NM_177924.5(ASAH1):c.303+7G>A
|
rs4921834
|
0.42285
|
NM_205836.3(FBXO38):c.1619-4G>T
|
rs11168047
|
0.42278
|
NM_022834.5(VWA1):c.1005A>G (p.Pro335=)
|
rs1892289
|
0.42255
|
NM_205836.3(FBXO38):c.3170+11T>C
|
rs10051223
|
0.42229
|
NM_005591.4(MRE11):c.20+28G>A
|
rs497763
|
0.42216
|
NM_020988.3(GNAO1):c.513C>T (p.Thr171=)
|
rs1065375
|
0.42205
|
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)
|
rs3027875
|
0.42119
|
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)
|
rs1217401
|
0.42071
|
NM_000481.4(AMT):c.259-109T>G
|
rs4855873
|
0.42055
|
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)
|
rs3738725
|
0.42035
|
NM_014324.6(AMACR):c.25G>A (p.Val9Met)
|
rs3195676
|
0.42007
|
NM_018896.5(CACNA1G):c.1591C>A (p.Arg531=)
|
rs12449998
|
0.42004
|
NM_004408.4(DNM1):c.1008C>T (p.Phe336=)
|
rs3003609
|
0.41986
|
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=)
|
rs7301328
|
0.41972
|
NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=)
|
rs2269415
|
0.41962
|
NM_021729.6(VPS11):c.486C>G (p.Gly162=)
|
rs1784302
|
0.41925
|
NM_004183.4(BEST1):c.1608T>C (p.Thr536=)
|
rs1800009
|
0.41922
|
NM_031448.6(C19orf12):c.*1144C>T
|
rs9566
|
0.41904
|
NM_138959.3(VANGL1):c.*4478C>T
|
rs17034226
|
0.41876
|
NM_138959.3(VANGL1):c.*2351T>G
|
rs12121158
|
0.41872
|
NM_000081.4(LYST):c.1251A>G (p.Gln417=)
|
rs1063128
|
0.41864
|
NM_000081.4(LYST):c.1683A>G (p.Leu561=)
|
rs3820553
|
0.41844
|
NM_000081.4(LYST):c.4956A>G (p.Leu1652=)
|
rs6696123
|
0.41826
|
NM_000081.4(LYST):c.5373G>A (p.Lys1791=)
|
rs2273584
|
0.41769
|
NM_001543.5(NDST1):c.681T>G (p.Val227=)
|
rs2273235
|
0.41747
|
NM_000487.6(ARSA):c.*682G>C
|
rs7288338
|
0.41670
|
NM_024818.6(UBA5):c.1024+32T>C
|
rs2305629
|
0.41651
|
NM_001034116.2(EIF2B4):c.1014-7A>G
|
rs2280737
|
0.41637
|
NM_004933.3(CDH15):c.1750A>C (p.Lys584Gln)
|
rs75791347
|
0.41599
|
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)
|
rs761421
|
0.41522
|
NM_022089.4(ATP13A2):c.3236-30C>T
|
rs2076605
|
0.41484
|
NM_004984.4(KIF5A):c.445+22A>G
|
rs775322
|
0.41472
|
NM_001080414.4(CCDC88C):c.60+8C>A
|
rs3742654
|
0.41434
|
NM_004287.5(GOSR2):c.*1733A>G
|
rs758392
|
0.41414
|
NM_138959.3(VANGL1):c.*5751A>G
|
rs10801933
|
0.41406
|
NM_005993.5(TBCD):c.3486G>A (p.Ala1162=)
|
rs9390
|
0.41379
|
NM_001034116.2(EIF2B4):c.76-7G>A
|
rs7602534
|
0.41365
|
NM_001166114.2(PNPLA6):c.3699+41C>T
|
rs538850
|
0.41358
|
NM_001379500.1(COL18A1):c.*16G>A
|
rs7499
|
0.41352
|
NM_002087.4(GRN):c.*78C>T
|
rs5848
|
0.41298
|
NM_015213.4(DENND5A):c.2607-19T>C
|
rs7123970
|
0.41264
|
NM_003119.4(SPG7):c.376+4364C>T
|
rs8052076
|
0.41223
|
NM_001130698.2(TRPC3):c.117C>T (p.Gly39=)
|
rs1396082
|
0.41213
|
NM_015346.4(ZFYVE26):c.*365A>G
|
rs12879105
|
0.41164
|
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)
|
rs11205
|
0.41131
|
NM_000487.6(ARSA):c.*855G>A
|
rs7288050
|
0.41126
|
NM_014053.4(FLVCR1):c.*2419G>A
|
rs10864027
|
0.41090
|
NM_002913.5(RFC1):c.331+25G>T
|
rs2306596
|
0.41060
|
NM_000157.4(GBA1):c.454+47G>A
|
rs2075569
|
0.41024
|
NM_000742.4(CHRNA2):c.*1159T>C
|
rs1560344
|
0.41008
|
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile)
|
rs11107
|
0.40992
|
NM_012179.4(FBXO7):c.949C>T (p.Leu317=)
|
rs9726
|
0.40979
|
NM_001111.5(ADAR):c.3443+8G>A
|
rs9427094
|
0.40966
|
NM_001352514.2(HLCS):c.2122-30G>A
|
rs2073420
|
0.40931
|
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=)
|
rs9435659
|
0.40884
|
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)
|
rs3170740
|
0.40860
|
NM_001846.4(COL4A2):c.*557A>G
|
rs1049931
|
0.40859
|
NM_001134407.3(GRIN2A):c.*6128A>G
|
rs9933624
|
0.40853
|
NM_001134407.3(GRIN2A):c.*6609T>C
|
rs1420040
|
0.40787
|
NM_033343.4(LHX4):c.983A>G (p.Asn328Ser)
|
rs7536561
|
0.40777
|
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=)
|
rs9435662
|
0.40757
|
NM_000742.4(CHRNA2):c.*755G>A
|
rs2292974
|
0.40756
|
NM_006261.5(PROP1):c.27T>C (p.Ala9=)
|
rs1135320
|
0.40746
|
NM_001352514.2(HLCS):c.*3141_*3142dup
|
rs3031056
|
0.40694
|
NM_000742.4(CHRNA2):c.*721G>T
|
rs2292975
|
0.40648
|
NM_001846.4(COL4A2):c.*650T>C
|
rs1049977
|
0.40601
|
NM_006297.3(XRCC1):c.618A>G (p.Pro206=)
|
rs915927
|
0.40597
|
NM_000287.3(PEX6):c.-55C>T
|
rs9462859
|
0.40581
|
NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)
|
rs1044397
|
0.40553
|
NM_021729.6(VPS11):c.*38A>G
|
rs4614
|
0.40501
|
NM_001318734.2(KLC2):c.1086C>T (p.Asp362=)
|
rs1151539
|
0.40491
|
NM_001318734.2(KLC2):c.1444-24C>T
|
rs474005
|
0.40488
|
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)
|
rs1129187
|
0.40479
|
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)
|
rs1044396
|
0.40465
|
NM_004113.6(FGF12):c.125-21C>T
|
rs4571187
|
0.40463
|
NM_001351169.2(NT5C2):c.1647C>T (p.Asp549=)
|
rs3740387
|
0.40426
|
NM_032108.4(SEMA6B):c.1454+30G>T
|
rs10853972
|
0.40419
|
NM_000405.5(GM2A):c.*227A>G
|
rs989
|
0.40371
|
NM_001414.4(EIF2B1):c.*464A>G
|
rs9919
|
0.40370
|
NM_004068.4(AP2M1):c.75-4T>C
|
rs2231216
|
0.40359
|
NM_006059.4(LAMC3):c.963C>T (p.Ala321=)
|
rs2275131
|
0.40359
|
NM_001377265.1(MAPT):c.*1145_*1146insT
|
rs1491446284
|
0.40313
|
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=)
|
rs3737289
|
0.40290
|
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=)
|
rs411136
|
0.40227
|
NM_004385.5(VCAN):c.348T>C (p.Thr116=)
|
rs12332199
|
0.40199
|
NM_001134407.3(GRIN2A):c.*6149C>G
|
rs9940680
|
0.40187
|
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=)
|
rs6638360
|
0.40138
|
NM_018052.5(VAC14):c.424-18T>C
|
rs2271047
|
0.40128
|
NM_012062.5(DNM1L):c.1674+36T>A
|
rs4506737
|
0.40113
|
NM_020771.4(HACE1):c.77-4T>C
|
rs9499992
|
0.40002
|
NM_000702.4(ATP1A2):c.495+81T>A
|
rs2854248
|
0.39961
|
NM_032730.5(RTN4IP1):c.114T>A (p.Pro38=)
|
rs1987623
|
0.39946
|
NM_000153.4(GALC):c.1350C>T (p.Ser450=)
|
rs398076
|
0.39907
|
NM_138959.3(VANGL1):c.*5368G>A
|
rs10494179
|
0.39762
|
NM_138959.3(VANGL1):c.*5995A>T
|
rs4595366
|
0.39755
|
NM_138959.3(VANGL1):c.*5841A>T
|
rs4548441
|
0.39752
|
NM_001098.3(ACO2):c.836-54T>C
|
rs203320
|
0.39646
|
NM_001371279.1(REEP1):c.417+45T>C
|
rs12988844
|
0.39574
|
NM_021008.4(DEAF1):c.518-34G>A
|
rs12277188
|
0.39540
|
NM_022124.6(CDH23):c.5187+99T>C
|
rs10762481
|
0.39527
|
NM_007254.4(PNKP):c.498+23A>T
|
rs1290649
|
0.39505
|
NM_000726.5(CACNB4):c.*442G>A
|
rs7597215
|
0.39502
|
NM_006950.3(SYN1):c.510T>C (p.Asn170=)
|
rs1142636
|
0.39391
|
NM_033064.5(ATCAY):c.*823C>T
|
rs10424392
|
0.39386
|
NM_033305.3(VPS13A):c.9078-133A>G
|
rs10869920
|
0.39381
|
NM_015272.5(RPGRIP1L):c.2959-32G>A
|
rs7203525
|
0.39281
|
NM_001379500.1(COL18A1):c.107-12073A>G
|
rs2236451
|
0.39262
|
NM_006186.4(NR4A2):c.*331T>G
|
rs12803
|
0.39211
|
NM_004820.5(CYP7B1):c.122+19A>T
|
rs7842714
|
0.39118
|
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=)
|
rs1806191
|
0.39095
|
NM_032581.4(HYCC1):c.*3001A>G
|
rs2286495
|
0.39069
|
NM_032581.4(HYCC1):c.*3680A>G
|
rs3815348
|
0.39068
|
NM_002860.4(ALDH18A1):c.2206+15G>A
|
rs10882640
|
0.39029
|
NM_014946.4(SPAST):c.*1544G>T
|
rs6709048
|
0.39025
|
NM_001020658.2(PUM1):c.2337T>C (p.Asn779=)
|
rs2275741
|
0.39017
|
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)
|
rs2276625
|
0.39011
|
NM_018718.3(CEP41):c.-5A>C
|
rs2287371
|
0.39010
|
NM_018023.5(YEATS2):c.1588G>A (p.Val530Ile)
|
rs262993
|
0.38998
|
NM_021008.4(DEAF1):c.998-99C>T
|
rs28392994
|
0.38981
|
NM_001846.4(COL4A2):c.2587+8C>T
|
rs2281974
|
0.38939
|
NM_032581.4(HYCC1):c.*435C>T
|
rs10085739
|
0.38903
|
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)
|
rs3207090
|
0.38895
|
NM_032581.4(HYCC1):c.*436T>G
|
rs10085448
|
0.38892
|
NM_014053.4(FLVCR1):c.*1826C>T
|
rs12567976
|
0.38865
|
NM_001161352.2(KCNMA1):c.602+12634G>T
|
rs553199
|
0.38855
|
NM_018129.4(PNPO):c.*512A>C
|
rs7220104
|
0.38852
|
NM_002617.4(PEX10):c.776+33G>T
|
rs3795269
|
0.38841
|
NM_001348323.3(TRIP12):c.2736A>G (p.Thr912=)
|
rs13018957
|
0.38821
|
NM_014053.4(FLVCR1):c.*1793C>T
|
rs12567975
|
0.38742
|
NM_004287.5(GOSR2):c.*1115G>A
|
rs758391
|
0.38725
|
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)
|
rs10941112
|
0.38660
|
NM_001348323.3(TRIP12):c.2651-39A>C
|
rs4973229
|
0.38648
|
NM_020247.5(COQ8A):c.1573-52G>A
|
rs2297415
|
0.38619
|
NM_015192.4(PLCB1):c.1679-29C>T
|
rs1015170
|
0.38615
|
NM_020066.5(FMN2):c.1413C>A (p.Ala471=)
|
rs10926124
|
0.38564
|
NM_004385.5(VCAN):c.5477G>A (p.Arg1826His)
|
rs188703
|
0.38473
|
NM_025137.4(SPG11):c.4907-365C>T
|
rs2555355
|
0.38470
|
NM_021729.6(VPS11):c.1266C>T (p.Tyr422=)
|
rs540261
|
0.38450
|
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His)
|
rs25640
|
0.38375
|
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)
|
rs13402180
|
0.38348
|
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)
|
rs13414203
|
0.38341
|
NM_139318.5(KCNH5):c.1570-18A>G
|
rs12588427
|
0.38324
|
NM_152415.3(VPS37A):c.1114-26G>C
|
rs3793427
|
0.38313
|
NM_001145809.2(MYH14):c.2205C>G (p.Arg735=)
|
rs378811
|
0.38312
|
NM_025243.4(SLC19A3):c.*1815A>C
|
rs34020562
|
0.38247
|
NM_001191061.2(SLC25A22):c.*453C>T
|
rs4963153
|
0.38209
|
NM_016955.4(SEPSECS):c.*807A>G
|
rs13109061
|
0.38145
|
NM_020247.5(COQ8A):c.1573-20C>G
|
rs2297416
|
0.38143
|
NM_182961.4(SYNE1):c.1351-24A>T
|
rs4331993
|
0.38135
|
NM_002609.4(PDGFRB):c.3137+4A>G
|
rs246391
|
0.38064
|
NM_006059.4(LAMC3):c.4378-4A>G
|
rs4740413
|
0.38051
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_015272.5(RPGRIP1L):c.*737T>G
|
rs3760008
|
0.37956
|
NM_015272.5(RPGRIP1L):c.*55T>A
|
rs4784319
|
0.37955
|
NM_015272.5(RPGRIP1L):c.*1693G>A
|
rs1946155
|
0.37946
|
NM_014946.4(SPAST):c.*2264G>A
|
rs3769602
|
0.37900
|
NM_033064.5(ATCAY):c.*3181G>A
|
rs10412199
|
0.37873
|
NM_015166.4(MLC1):c.714+28G>A
|
rs2038048
|
0.37853
|
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=)
|
rs730106
|
0.37791
|
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro)
|
rs1051152
|
0.37778
|
NM_000061.3(BTK):c.1899C>T (p.Cys633=)
|
rs1135363
|
0.37760
|
NM_021729.6(VPS11):c.187+159A>G
|
rs584115
|
0.37728
|
NM_032193.4(RNASEH2C):c.*1917T>C
|
rs535111
|
0.37725
|
NM_004562.3(PRKN):c.*2480C>A
|
rs68121389
|
0.37695
|
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=)
|
rs2276454
|
0.37692
|
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=)
|
rs2287017
|
0.37676
|
NM_005862.3(STAG1):c.2457C>T (p.Phe819=)
|
rs9860801
|
0.37660
|
NM_033409.4(SLC52A3):c.765C>T (p.Leu255=)
|
rs3746805
|
0.37656
|
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)
|
rs2287015
|
0.37653
|
NM_006297.3(XRCC1):c.1481+9G>A
|
rs25479
|
0.37650
|
NM_000286.3(PEX12):c.*517A>G
|
rs1046321
|
0.37640
|
NM_004204.5(PIGQ):c.1532-110C>T
|
rs4262946
|
0.37630
|
NM_001040142.2(SCN2A):c.*1713G>A
|
rs1007722
|
0.37578
|
NM_006267.5(RANBP2):c.405+17T>G
|
rs826526
|
0.37500
|
NM_006267.5(RANBP2):c.637-18G>A
|
rs826577
|
0.37494
|
NM_001182.5(ALDH7A1):c.*726C>T
|
rs1060857
|
0.37480
|
NM_152415.3(VPS37A):c.841+23G>A
|
rs3213601
|
0.37262
|
NM_001371279.1(REEP1):c.105+26C>T
|
rs1863058
|
0.37197
|
NM_152309.3(PIK3AP1):c.247G>T (p.Ala83Ser)
|
rs3748229
|
0.37094
|
NM_001244008.2(KIF1A):c.*1237C>T
|
rs3732341
|
0.37083
|
NM_001927.4(DES):c.1014G>C (p.Leu338=)
|
rs12920
|
0.37027
|
NM_130384.3(ATRIP):c.*1632=
|
rs11797
|
0.37009
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.36980
|
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=)
|
rs246388
|
0.36918
|
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu)
|
rs2229866
|
0.36917
|
NM_000810.4(GABRA5):c.878-27T>A
|
rs140683
|
0.36914
|
NM_021980.4(OPTN):c.-161T>C
|
rs71492279
|
0.36888
|
NM_000405.5(GM2A):c.*2141C>T
|
rs153449
|
0.36881
|
NM_003630.3(PEX3):c.524-19T>C
|
rs22908
|
0.36866
|
NM_004519.4(KCNQ3):c.*1754C>T
|
rs977939
|
0.36854
|
NM_021008.4(DEAF1):c.290-38C>T
|
rs11246268
|
0.36853
|
NM_001927.4(DES):c.828C>T (p.Asp276=)
|
rs1058261
|
0.36815
|
NM_052874.5(STX1B):c.538-7A>G
|
rs12445568
|
0.36808
|
NM_001927.4(DES):c.1104G>A (p.Ala368=)
|
rs1058284
|
0.36806
|
NM_001348323.3(TRIP12):c.3482+15G>A
|
rs6720868
|
0.36718
|
NM_001098.3(ACO2):c.836-118C>T
|
rs9619974
|
0.36682
|
NM_001098.3(ACO2):c.670C>T (p.Leu224=)
|
rs1799932
|
0.36650
|
NM_173728.4(ARHGEF15):c.177C>T (p.Thr59=)
|
rs3744651
|
0.36629
|
NM_000405.4(GM2A):c.-102A>G
|
rs2277028
|
0.36620
|
NM_018718.3(CEP41):c.*4295G>C
|
rs4728195
|
0.36596
|
NM_005591.4(MRE11):c.1225+19T>C
|
rs641936
|
0.36577
|
NM_014053.4(FLVCR1):c.*788C>T
|
rs6670064
|
0.36556
|
NM_014053.4(FLVCR1):c.*626T>A
|
rs11582817
|
0.36511
|
NM_000286.3(PEX12):c.*836G>C
|
rs10068
|
0.36472
|
NM_017791.3(FLVCR2):c.-96T>C
|
rs11845734
|
0.36446
|
NM_003477.2(PDHX):c.-272G>A
|
rs2956111
|
0.36407
|
NM_000414.4(HSD17B4):c.434+44T>C
|
rs457106
|
0.36386
|
NM_145725.3(TRAF3):c.297+19T>A
|
rs2295402
|
0.36350
|
NM_002739.5(PRKCG):c.686+14G>T
|
rs3745405
|
0.36258
|
NM_152415.3(VPS37A):c.970-1604A>G
|
rs10110023
|
0.36222
|
NM_006267.5(RANBP2):c.2550A>G (p.Ser850=)
|
rs826549
|
0.36200
|
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu)
|
rs9515185
|
0.36168
|
NM_024411.5(PDYN):c.*1030C>T
|
rs2235749
|
0.36165
|
NM_145868.2(ANXA11):c.859-62C>T
|
rs2236557
|
0.36135
|
NM_014415.4(ZBTB11):c.1624-4C>T
|
rs11712748
|
0.36125
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_000044.6(AR):c.1616+21621G>A
|
rs1204038
|
0.36101
|
NM_000287.4(PEX6):c.883-3T>C
|
rs9986447
|
0.36088
|
NM_032730.5(RTN4IP1):c.495+27A>G
|
rs1870867
|
0.36066
|
NM_000030.3(AGXT):c.595+100G>A
|
rs12997245
|
0.35955
|
NM_198859.4(PRICKLE2):c.*3491A>G
|
rs153730
|
0.35921
|
NM_015267.4(CUX2):c.3918T>C (p.Asp1306=)
|
rs3803167
|
0.35918
|
NM_002858.4(ABCD3):c.162G>A (p.Lys54=)
|
rs16946
|
0.35872
|
NM_002739.5(PRKCG):c.567T>C (p.Asn189=)
|
rs3745406
|
0.35855
|
NM_001220.5(CAMK2B):c.1956C>T (p.Asn652=)
|
rs1065359
|
0.35835
|
NM_139318.5(KCNH5):c.549+17T>C
|
rs1950975
|
0.35828
|
NM_001365999.1(SZT2):c.2037+48G>A
|
rs2782645
|
0.35801
|
NM_001205293.3(CACNA1E):c.5863G>A (p.Ala1955Thr)
|
rs704326
|
0.35753
|
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)
|
rs11649804
|
0.35747
|
NM_030665.4(RAI1):c.840del (p.Gln280fs)
|
rs34083643
|
0.35741
|
NM_001363118.2(SLC52A2):c.-110-5T>C
|
rs3817681
|
0.35735
|
NM_014844.5(TECPR2):c.951+18A>G
|
rs4906197
|
0.35713
|
NM_001081550.2(THOC2):c.3058-9C>T
|
rs2072914
|
0.35686
|
NM_001166114.2(PNPLA6):c.2818-19A>G
|
rs563826
|
0.35658
|
NM_014845.6(FIG4):c.*120C>T
|
rs1127775
|
0.35612
|
NM_001166114.2(PNPLA6):c.2635-19A>C
|
rs539887
|
0.35604
|
NM_018129.4(PNPO):c.364-36C>T
|
rs2002136
|
0.35597
|
NM_177924.5(ASAH1):c.303+117T>C
|
rs2427746
|
0.35577
|
NM_015443.4(KANSL1):c.-90+8C>T
|
rs72836333
|
0.35522
|
NM_004446.3(EPRS1):c.3405G>A (p.Gln1135=)
|
rs1061160
|
0.35520
|
NM_000061.3(BTK):c.*116A>C
|
rs700
|
0.35507
|
NM_006214.4(PHYH):c.76-48T>C
|
rs7916926
|
0.35507
|
NM_001130823.3(DNMT1):c.2721-45C>T
|
rs2288349
|
0.35412
|
NM_002361.4(MAG):c.462G>A (p.Glu154=)
|
rs3746248
|
0.35409
|
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=)
|
rs1133219
|
0.35362
|
NM_198859.4(PRICKLE2):c.259-6A>G
|
rs2306380
|
0.35289
|
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)
|
rs10949483
|
0.35277
|
NM_001134407.3(GRIN2A):c.*5884G>A
|
rs8045712
|
0.35178
|
NM_021830.5(TWNK):c.-605G>T
|
rs3740484
|
0.35155
|
NM_015981.4(CAMK2A):c.1467-4A>G
|
rs55976097
|
0.35152
|
NM_032581.4(HYCC1):c.624A>G (p.Ser208=)
|
rs3735231
|
0.35143
|
NM_001134407.3(GRIN2A):c.*2617G>C
|
rs62034910
|
0.35138
|
NM_001085411.3(NADK2):c.645-11A>T
|
rs3761973
|
0.35110
|
NM_130837.3(OPA1):c.*2344A>G
|
rs1056392
|
0.35025
|
NM_024411.5(PDYN):c.*743T>C
|
rs910080
|
0.35005
|
NM_022124.6(CDH23):c.624+64C>T
|
rs7087735
|
0.34986
|
NM_145868.2(ANXA11):c.1030-44A>C
|
rs2236558
|
0.34951
|
NM_177924.5(ASAH1):c.304-42G>A
|
rs12675283
|
0.34950
|
NM_000817.3(GAD1):c.111T>C (p.His37=)
|
rs769404
|
0.34892
|
NM_020066.5(FMN2):c.2517C>G (p.Thr839=)
|
rs10926166
|
0.34857
|
NM_000814.6(GABRB3):c.1080+15A>G
|
rs3751582
|
0.34839
|
NM_031407.7(HUWE1):c.5716+37T>G
|
rs266786
|
0.34800
|
NM_017777.4(MKS1):c.261+67A>G
|
rs7225148
|
0.34782
|
NM_005186.4(CAPN1):c.1341+25A>T
|
rs2271450
|
0.34753
|
NM_002778.4(PSAP):c.1432-22C>T
|
rs885828
|
0.34727
|
NM_177924.5(ASAH1):c.303+21C>A
|
rs2106037
|
0.34725
|
NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=)
|
rs10889335
|
0.34717
|
NM_030930.4(UNC93B1):c.1557C>G (p.Arg519=)
|
rs7149
|
0.34645
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_014845.6(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771
|
0.34581
|
NM_014365.3(HSPB8):c.*644A>G
|
rs11038
|
0.34575
|
NM_016553.5(NUP62):c.848G>C (p.Ser283Thr)
|
rs1062798
|
0.34519
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_015338.6(ASXL1):c.140+26A>G
|
rs2295454
|
0.34485
|
NM_014698.3(TMEM63A):c.1378-49C>T
|
rs9919303
|
0.34459
|
NM_016373.4(WWOX):c.108-12G>T
|
rs67493355
|
0.34450
|
NM_015338.6(ASXL1):c.3759T>C (p.Ser1253=)
|
rs4911231
|
0.34448
|
NM_015957.4(APIP):c.19C>T (p.Arg7Trp)
|
rs2956114
|
0.34353
|
NM_033453.4(ITPA):c.138G>A (p.Gln46=)
|
rs8362
|
0.34252
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869
|
0.34207
|
NM_003384.3(VRK1):c.217-244T>C
|
rs12586511
|
0.34167
|
NM_015294.6(TRIM37):c.*634A>T
|
rs28475409
|
0.34158
|
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu)
|
rs7220988
|
0.34127
|
NM_017755.6(NSUN2):c.97-6C>T
|
rs10076470
|
0.34106
|
NM_001134407.3(GRIN2A):c.*1212C>T
|
rs1014531
|
0.34041
|
NM_001220.5(CAMK2B):c.820-93A>T
|
rs2075073
|
0.33981
|
NM_017755.6(NSUN2):c.51G>A (p.Glu17=)
|
rs10062086
|
0.33934
|
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
0.33924
|
NM_001220.5(CAMK2B):c.819+115T>C
|
rs35663812
|
0.33921
|
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=)
|
rs874204
|
0.33827
|
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=)
|
rs874203
|
0.33819
|
NM_006059.4(LAMC3):c.3114C>G (p.Leu1038=)
|
rs10901345
|
0.33677
|
NM_006059.4(LAMC3):c.3108G>A (p.Gly1036=)
|
rs10901344
|
0.33663
|
NM_002025.4(AFF2):c.1041+56456A>G
|
rs241084
|
0.33601
|
NM_004385.5(VCAN):c.645A>G (p.Val215=)
|
rs4470745
|
0.33601
|
NM_001098.3(ACO2):c.1032+17C>T
|
rs203319
|
0.33591
|
NM_014698.3(TMEM63A):c.507C>T (p.Asp169=)
|
rs2292564
|
0.33578
|
NM_000311.5(PRNP):c.385A>G (p.Met129Val)
|
rs1799990
|
0.33516
|
NM_001845.6(COL4A1):c.4150+38C>G
|
rs1816884
|
0.33505
|
NM_177924.5(ASAH1):c.503+71G>A
|
rs6586683
|
0.33468
|
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=)
|
rs9806806
|
0.33435
|
NM_001347702.2(SYNE1):c.1458A>G (p.Glu486=)
|
rs2747662
|
0.33426
|
NM_000096.4(CP):c.2662-12T>C
|
rs16861582
|
0.33387
|
NM_021729.6(VPS11):c.1238+14C>T
|
rs3825061
|
0.33387
|
NM_000411.7(HLCS):c.-480-12A>G
|
rs115866403
|
0.33322
|
NM_024306.5(FA2H):c.229C>T (p.Leu77=)
|
rs929881
|
0.33281
|
NM_000306.4(POU1F1):c.*140A>T
|
rs33936108
|
0.33253
|
NM_015338.6(ASXL1):c.*22A>G
|
rs2295764
|
0.33221
|
NM_198859.4(PRICKLE2):c.*1763G>A
|
rs26939
|
0.33203
|
NM_000726.5(CACNB4):c.*3804G>C
|
rs2344734
|
0.33115
|
NM_173354.5(SIK1):c.625-39A>G
|
rs2006112
|
0.32889
|
NM_002693.3(POLG):c.3105-11T>C
|
rs2302084
|
0.32855
|
NM_001931.5(DLAT):c.128C>T (p.Ala43Val)
|
rs2303436
|
0.32827
|
NM_001854.4(COL11A1):c.2656-28T>C
|
rs1903787
|
0.32791
|
NM_022786.3(ARV1):c.175-11T>C
|
rs10779804
|
0.32756
|
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)
|
rs6347
|
0.32752
|
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val)
|
rs843358
|
0.32719
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_177924.5(ASAH1):c.503+127G>A
|
rs7387930
|
0.32681
|
NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val)
|
rs2862954
|
0.32670
|
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=)
|
rs16975492
|
0.32653
|
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
|
rs197922
|
0.32616
|
NM_006279.5(ST3GAL3):c.209+9925A>G
|
rs37458
|
0.32581
|
NM_001037333.3(CYFIP2):c.1530A>G (p.Leu510=)
|
rs1823035
|
0.32531
|
NM_001365999.1(SZT2):c.8626-3T>C
|
rs2255632
|
0.32528
|
NM_144599.5(NIPA1):c.*1127C>G
|
rs1059774
|
0.32452
|
NM_173354.5(SIK1):c.749-45C>G
|
rs657978
|
0.32441
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
NM_198904.4(GABRG2):c.*609C>T
|
rs418210
|
0.32390
|
NM_003900.5(SQSTM1):c.755-23G>A
|
rs2241349
|
0.32312
|
NM_001205293.3(CACNA1E):c.4008T>C (p.His1336=)
|
rs4652678
|
0.32295
|
NM_001145809.2(MYH14):c.1114+13C>T
|
rs11666328
|
0.32285
|
NM_003072.5(SMARCA4):c.1524T>C (p.His508=)
|
rs7935
|
0.32239
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
NM_001166114.2(PNPLA6):c.1253-6C>T
|
rs574930
|
0.32237
|
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=)
|
rs11702425
|
0.32196
|
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)
|
rs10891314
|
0.32172
|
NM_020843.4(SCAPER):c.-42T>A
|
rs3812909
|
0.32139
|
NM_020843.4(SCAPER):c.1A>G (p.Met1Val)
|
rs3812908
|
0.32136
|
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=)
|
rs3747563
|
0.32044
|
NM_000061.3(BTK):c.*192G>A
|
rs1057403
|
0.32006
|
NM_198578.4(LRRK2):c.1102-10C>A
|
rs7955902
|
0.31995
|
NM_002693.3(POLG):c.3105-36A>G
|
rs2246900
|
0.31986
|
NM_014855.3(AP5Z1):c.*2623A>C
|
rs2880933
|
0.31879
|
NM_007118.4(TRIO):c.4311+44G>A
|
rs256412
|
0.31735
|
NM_198904.4(GABRG2):c.588C>T (p.Asn196=)
|
rs211037
|
0.31659
|
NM_001142633.3(PIK3R5):c.2383-27T>C
|
rs4791765
|
0.31643
|
NM_001365999.1(SZT2):c.6034+11A>C
|
rs2039531
|
0.31639
|
NM_020843.4(SCAPER):c.3705+3A>G
|
rs3765115
|
0.31626
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_001846.4(COL4A2):c.-203T>C
|
rs7991332
|
0.31576
|
NM_001759.4(CCND2):c.570C>G (p.Thr190=)
|
rs3217805
|
0.31575
|
NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser)
|
rs2782643
|
0.31563
|
NM_173354.5(SIK1):c.625-23T>C
|
rs2006191
|
0.31560
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
NM_003383.5(VLDLR):c.-56C>T
|
rs34881325
|
0.31505
|
NM_000108.5(DLD):c.*18A>T
|
rs8721
|
0.31455
|
NM_001253852.3(AP4B1):c.618-13G>C
|
rs3789613
|
0.31448
|
NM_000108.5(DLD):c.438+83G>A
|
rs17412104
|
0.31437
|
NM_003383.5(VLDLR):c.82+7G>A
|
rs2219143
|
0.31376
|
NM_003047.5(SLC9A1):c.69T>C (p.Val23=)
|
rs34306208
|
0.31344
|
NM_033453.4(ITPA):c.561G>A (p.Glu187=)
|
rs9101
|
0.31247
|
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala)
|
rs55873785
|
0.31221
|
NM_024306.5(FA2H):c.*1064C>G
|
rs1046371
|
0.31177
|
NM_000108.5(DLD):c.*1688G>A
|
rs8440
|
0.31157
|
NM_001020658.2(PUM1):c.364-44A>G
|
rs4949331
|
0.31144
|
NM_001044.5(SLC6A3):c.*35T>C
|
rs1042098
|
0.31144
|
NM_138959.3(VANGL1):c.*3496T>A
|
rs4839472
|
0.31126
|
NM_001365999.1(SZT2):c.7356A>G (p.Glu2452=)
|
rs2027130
|
0.31124
|
NM_006765.4(TUSC3):c.309-6T>C
|
rs1035972
|
0.31124
|
NM_001482.2(GATM):c.-200C>T
|
rs7164139
|
0.31090
|
NM_001482.3(GATM):c.*600A>G
|
rs1049503
|
0.31074
|
NM_020247.5(COQ8A):c.*464G>A
|
rs8159
|
0.31059
|
NM_000096.4(CP):c.2286-15del
|
rs143522213
|
0.30978
|
NM_001414.4(EIF2B1):c.*395T>C
|
rs1050449
|
0.30842
|
NM_000030.3(AGXT):c.*41C>A
|
rs4273214
|
0.30802
|
NM_001371279.1(REEP1):c.*2859T>G
|
rs708600
|
0.30772
|
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=)
|
rs13079522
|
0.30736
|
NM_032193.4(RNASEH2C):c.*2036C>T
|
rs3372
|
0.30708
|
NM_001044.5(SLC6A3):c.419-12C>A
|
rs460000
|
0.30619
|
NM_001042646.3(TRAK1):c.1815C>T (p.Pro605=)
|
rs2290133
|
0.30516
|
NM_000030.3(AGXT):c.846+199G>A
|
rs13030904
|
0.30492
|
NM_006261.5(PROP1):c.-210A>C
|
rs13187293
|
0.30465
|
NM_006859.4(LIAS):c.884-14T>A
|
rs2125314
|
0.30396
|
NM_001142633.3(PIK3R5):c.2496-46A>G
|
rs4791764
|
0.30344
|
NM_139318.5(KCNH5):c.2233G>A (p.Ala745Thr)
|
rs4902176
|
0.30330
|
NM_001846.4(COL4A2):c.1179C>T (p.Ile393=)
|
rs74941798
|
0.30311
|
NM_033305.3(VPS13A):c.*1378C>A
|
rs13286867
|
0.30192
|
NM_000153.4(GALC):c.264+108G>A
|
rs2245387
|
0.30074
|
NM_000925.4(PDHB):c.267+42G>A
|
rs62259772
|
0.30062
|
NM_000925.4(PDHB):c.438G>A (p.Gly146=)
|
rs1126551
|
0.30058
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=)
|
rs17038714
|
0.29915
|
NM_000153.4(GALC):c.984G>A (p.Gln328=)
|
rs12888666
|
0.29819
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.29787
|
NM_015028.4(TNIK):c.1419+19A>G
|
rs6444965
|
0.29767
|
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu)
|
rs61734410
|
0.29755
|
NM_003334.4(UBA1):c.679-33C>G
|
rs4239963
|
0.29685
|
NM_001351132.2(PEX5):c.967-26C>G
|
rs3816424
|
0.29645
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_005076.5(CNTN2):c.2628C>T (p.Ser876=)
|
rs2229868
|
0.29618
|
NM_000925.4(PDHB):c.*243A>C
|
rs1126722
|
0.29583
|
NM_006702.5(PNPLA6):c.-261T>C
|
rs560849
|
0.29546
|
NM_015375.3(DSTYK):c.2028C>T (p.Phe676=)
|
rs1062715
|
0.29534
|
NM_000030.3(AGXT):c.524+91C>T
|
rs10196315
|
0.29513
|
NM_017651.4(AHI1):c.-293G>T
|
rs13197384
|
0.29491
|
NM_006059.4(LAMC3):c.521C>A (p.Pro174His)
|
rs2275137
|
0.29468
|
NM_001111.5(ADAR):c.2682G>A (p.Val894=)
|
rs1127309
|
0.29372
|
NM_006651.4(CPLX1):c.32-5A>G
|
rs2306251
|
0.29356
|
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)
|
rs3747282
|
0.29345
|
NM_000487.6(ARSA):c.*635G>A
|
rs5770953
|
0.29302
|
NM_020066.5(FMN2):c.4403G>A (p.Arg1468His)
|
rs3795677
|
0.29272
|
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=)
|
rs11556200
|
0.29252
|
NM_001414.4(EIF2B1):c.*378C>T
|
rs1050448
|
0.29226
|
NM_002618.4(PEX13):c.*952C>T
|
rs56739127
|
0.29127
|
NM_001098.3(ACO2):c.192A>C (p.Thr64=)
|
rs137831
|
0.29094
|
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg)
|
rs2254562
|
0.29094
|
NM_001854.4(COL11A1):c.3168+41T>C
|
rs1012282
|
0.29091
|
NM_001003694.2(BRPF1):c.1854+24A>G
|
rs696513
|
0.29090
|
NM_001142633.3(PIK3R5):c.2299+18T>G
|
rs9903447
|
0.29072
|
NM_000481.4(AMT):c.*696C>T
|
rs10640
|
0.29031
|
NM_003907.2(EIF2B5):c.-313A>G
|
rs2292611
|
0.29027
|
NM_005591.4(MRE11):c.403-6G>A
|
rs535801
|
0.28996
|
NM_052867.4(NALCN):c.3714C>T (p.Thr1238=)
|
rs17677552
|
0.28902
|
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)
|
rs61741379
|
0.28900
|
NM_031844.3(HNRNPU):c.261G>A (p.Glu87=)
|
rs6675421
|
0.28876
|
NM_006214.4(PHYH):c.636A>G (p.Thr212=)
|
rs473407
|
0.28866
|
NM_021830.5(TWNK):c.*766A>T
|
rs3740488
|
0.28823
|
NM_144599.5(NIPA1):c.*1927A>G
|
rs17807140
|
0.28781
|
NM_000475.5(NR0B1):c.498G>A (p.Arg166=)
|
rs2269345
|
0.28771
|
NM_004115.4(FGF14):c.*1612G>T
|
rs1046197
|
0.28765
|
NM_006059.4(LAMC3):c.4298C>T (p.Thr1433Met)
|
rs7024108
|
0.28739
|
NM_021830.5(TWNK):c.1593-5C>T
|
rs3740485
|
0.28642
|
NM_021830.5(TWNK):c.1593-3T>C
|
rs3740486
|
0.28631
|
NM_000044.6(AR):c.639G>A (p.Glu213=)
|
rs6152
|
0.28599
|
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=)
|
rs11650737
|
0.28596
|
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.28594
|
NM_000481.4(AMT):c.954G>A (p.Arg318=)
|
rs11715915
|
0.28593
|
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=)
|
rs16957702
|
0.28549
|
NM_025000.4(DCAF17):c.150C>T (p.Val50=)
|
rs6751956
|
0.28531
|
NM_001493.3(GDI1):c.219T>C (p.Asn73=)
|
rs4834
|
0.28474
|
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=)
|
rs12906163
|
0.28315
|
NM_001846.4(COL4A2):c.1095G>A (p.Pro365=)
|
rs76425569
|
0.28294
|
NM_006796.3(AFG3L2):c.*28G>C
|
rs1129115
|
0.28281
|
NM_001321075.3(DLG4):c.1167C>T (p.Ile389=)
|
rs17203281
|
0.28275
|
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser)
|
rs869457
|
0.28273
|
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=)
|
rs7275
|
0.28266
|
NM_205836.3(FBXO38):c.426+24T>G
|
rs34685718
|
0.28226
|
NM_032581.4(HYCC1):c.*1608A>G
|
rs10488277
|
0.28118
|
NM_032273.4(TMEM126A):c.395+10A>G
|
rs2196168
|
0.28103
|
NM_000925.4(PDHB):c.*353T>C
|
rs1126735
|
0.28091
|
NM_203446.3(SYNJ1):c.3518-7G>T
|
rs2833929
|
0.28042
|
NM_001111.5(ADAR):c.15+10G>T
|
rs58655370
|
0.27999
|
NM_032581.4(HYCC1):c.*3804A>C
|
rs34683819
|
0.27987
|
NM_002860.4(ALDH18A1):c.2110+24A>T
|
rs2296691
|
0.27977
|
NM_001244008.2(KIF1A):c.864+16C>T
|
rs2288750
|
0.27959
|
NM_016373.4(WWOX):c.-5C>T
|
rs11545028
|
0.27934
|
NM_014363.6(SACS):c.-13A>G
|
rs17078720
|
0.27905
|
NM_005186.4(CAPN1):c.1863+36C>T
|
rs2271448
|
0.27901
|
NM_006702.5(PNPLA6):c.-96A>C
|
rs604959
|
0.27892
|
NM_020822.3(KCNT1):c.254+20T>C
|
rs2385007
|
0.27844
|
NM_001039591.3(USP9X):c.3558+16T>C
|
rs5918130
|
0.27842
|
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=)
|
rs2229193
|
0.27838
|
NM_002361.4(MAG):c.1209C>T (p.Thr403=)
|
rs1126770
|
0.27773
|
NM_032581.4(HYCC1):c.*2661C>T
|
rs13222017
|
0.27750
|
NM_006214.4(PHYH):c.*65G>A
|
rs11133
|
0.27698
|
NM_002617.4(PEX10):c.*173G>A
|
rs1129171
|
0.27656
|
NM_012193.4(FZD4):c.*2971T>C
|
rs10898563
|
0.27626
|
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn)
|
rs8182086
|
0.27524
|
NM_032409.3(PINK1):c.*672T>C
|
rs2078073
|
0.27437
|
NM_001160372.4(TRAPPC9):c.1134+21A>G
|
rs3779658
|
0.27421
|
NM_032409.3(PINK1):c.*564T>G
|
rs1043502
|
0.27404
|
NM_001134831.2(AHI1):c.*218C>T
|
rs1052502
|
0.27386
|
NM_001220.5(CAMK2B):c.573T>C (p.Tyr191=)
|
rs11542227
|
0.27378
|
NM_015213.4(DENND5A):c.670G>C (p.Glu224Gln)
|
rs952374
|
0.27376
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27338
|
NM_032409.3(PINK1):c.*196T>C
|
rs1043443
|
0.27336
|
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=)
|
rs730600
|
0.27319
|
NM_000414.4(HSD17B4):c.1210-78T>C
|
rs257969
|
0.27308
|
NM_005591.4(MRE11):c.*2501A>G
|
rs2155209
|
0.27303
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
NM_020631.6(PLEKHG5):c.*290T>C
|
rs14708
|
0.27269
|
NM_015166.4(MLC1):c.895-139G>A
|
rs11568183
|
0.27262
|
NM_000414.4(HSD17B4):c.1993+74G>C
|
rs17145464
|
0.27235
|
NM_004565.3(PEX14):c.84+10837A>G
|
rs616488
|
0.27206
|
NM_003265.3(TLR3):c.1377C>T (p.Phe459=)
|
rs3775290
|
0.27189
|
NM_205836.3(FBXO38):c.1774T>C (p.Ser592Pro)
|
rs10043775
|
0.27145
|
NM_014946.4(SPAST):c.*1545T>G
|
rs9789593
|
0.27143
|
NM_018129.4(PNPO):c.*825C>A
|
rs2325749
|
0.27084
|
NM_020843.4(SCAPER):c.3078+39G>T
|
rs11072597
|
0.27073
|
NM_000170.3(GLDC):c.2315+80C>G
|
rs12683164
|
0.27069
|
NM_000391.4(TPP1):c.*1118G>C
|
rs1045450
|
0.27054
|
NC_000003.12:g.167735203T>C
|
rs11714980
|
0.27020
|
NM_016495.6(TBC1D7):c.665+8G>A
|
rs2439537
|
0.27001
|
NM_000382.3(ALDH3A2):c.153+39C>T
|
rs4646793
|
0.26984
|
NM_000382.3(ALDH3A2):c.472-56G>A
|
rs2072332
|
0.26925
|
NM_182961.4(SYNE1):c.21656+13T>C
|
rs9383976
|
0.26855
|
NM_020843.4(SCAPER):c.3265C>A (p.Pro1089Thr)
|
rs1607017
|
0.26828
|
NM_182961.4(SYNE1):c.130-25C>T
|
rs2141152
|
0.26785
|
NM_001081550.2(THOC2):c.2317-47A>G
|
rs3764750
|
0.26774
|
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)
|
rs2306877
|
0.26698
|
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr)
|
rs11564148
|
0.26687
|
NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=)
|
rs10878405
|
0.26650
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
NM_001039891.2(ZNF674):c.*2120A>C
|
rs5952893
|
0.26563
|
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=)
|
rs1805482
|
0.26553
|
NM_033409.4(SLC52A3):c.321C>T (p.Ala107=)
|
rs3746808
|
0.26517
|
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)
|
rs246395
|
0.26470
|
NM_003924.4(PHOX2B):c.*1387C>T
|
rs11723860
|
0.26435
|
NM_004171.4(SLC1A2):c.1221A>G (p.Val407=)
|
rs1042113
|
0.26392
|
NM_001378615.1(CC2D2A):c.3595-22C>T
|
rs4280724
|
0.26375
|
NM_198994.3(TGM6):c.1476G>A (p.Lys492=)
|
rs2295077
|
0.26375
|
NM_001099403.2(PRDM8):c.1980G>C (p.Arg660=)
|
rs12780
|
0.26373
|
NM_000411.8(HLCS):c.-405T>C
|
rs117476389
|
0.26368
|
NM_005149.3(TBX19):c.*251T>C
|
rs1000533
|
0.26364
|
NM_004722.4(AP4M1):c.1025+44T>C
|
rs2293479
|
0.26357
|
NM_000487.6(ARSA):c.*1522C>A
|
rs6009939
|
0.26325
|
NM_001003800.2(BICD2):c.1063-111G>C
|
rs56339669
|
0.26288
|
NM_020699.4(GATAD2B):c.729+15G>A
|
rs4363451
|
0.26283
|
NM_001282597.3(CTNNA2):c.1800T>C (p.Val600=)
|
rs2228460
|
0.26255
|
NM_182961.4(SYNE1):c.17346+7G>A
|
rs9383985
|
0.26223
|
NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His)
|
rs1044280
|
0.26219
|
NM_032581.4(HYCC1):c.*241T>C
|
rs2286493
|
0.26202
|
NM_006736.6(DNAJB2):c.66-14C>T
|
rs2276638
|
0.26148
|
NM_000368.5(TSC1):c.*1372T>G
|
rs58612431
|
0.26140
|
NM_001099922.3(ALG13):c.1435+5A>T
|
rs5985638
|
0.26139
|
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)
|
rs1041949
|
0.26134
|
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=)
|
rs8107538
|
0.26133
|
NM_153252.5(BRWD3):c.*5481A>C
|
rs12690214
|
0.26102
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
NM_000253.3(MTTP):c.-241G>A
|
rs11944752
|
0.26041
|
NM_004519.4(KCNQ3):c.*6632T>C
|
rs9297840
|
0.26041
|
NM_004519.4(KCNQ3):c.*6812A>G
|
rs7815106
|
0.26027
|
NM_001350451.2(RBFOX3):c.568+17C>T
|
rs11651975
|
0.26012
|
NM_020843.4(SCAPER):c.612-4A>G
|
rs11852395
|
0.26001
|
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=)
|
rs995224
|
0.25994
|
NM_016219.5(MAN1B1):c.1765-5C>A
|
rs12115325
|
0.25976
|
NM_021008.4(DEAF1):c.997+97T>C
|
rs7483337
|
0.25944
|
NM_014844.5(TECPR2):c.348+83A>G
|
rs60215817
|
0.25911
|
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)
|
rs10957393
|
0.25907
|
NM_000382.3(ALDH3A2):c.471+31T>C
|
rs1004491
|
0.25856
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
NM_000411.7(HLCS):c.-466A>G
|
rs117138955
|
0.25759
|
NM_000411.7(HLCS):c.-471A>G
|
rs118091633
|
0.25745
|
NM_001429.4(EP300):c.4618-18C>T
|
rs2076578
|
0.25729
|
NM_014494.4(TNRC6A):c.2016C>T (p.Ser672=)
|
rs13336754
|
0.25707
|
NM_001844.5(COL2A1):c.762+15G>A
|
rs10875716
|
0.25696
|
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys)
|
rs1800497
|
0.25693
|
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val)
|
rs10149146
|
0.25663
|
NM_004565.3(PEX14):c.156C>T (p.Phe52=)
|
rs12375
|
0.25602
|
NM_001492.6(GDF1):c.-1089T>C
|
rs113536478
|
0.25589
|
NM_001846.4(COL4A2):c.2588-11C>T
|
rs9521803
|
0.25564
|
NM_018319.4(TDP1):c.-230-14C>A
|
rs28365055
|
0.25524
|
NM_000466.3(PEX1):c.1484-36G>A
|
rs2111200
|
0.25489
|
NM_000170.3(GLDC):c.1261+72G>A
|
rs6477094
|
0.25439
|
NM_177924.5(ASAH1):c.*124T>A
|
rs417661
|
0.25434
|
NM_004519.4(KCNQ3):c.*6282A>T
|
rs10095295
|
0.25405
|
NM_004519.4(KCNQ3):c.*6238T>C
|
rs10108362
|
0.25327
|
NM_138959.3(VANGL1):c.*416G>A
|
rs3811011
|
0.25321
|
NM_000411.8(HLCS):c.-433C>T
|
rs115711809
|
0.25319
|
NM_138959.3(VANGL1):c.*1277C>T
|
rs3204955
|
0.25318
|
NM_018319.4(TDP1):c.291A>G (p.Gln97=)
|
rs3825663
|
0.25304
|
NM_005993.5(TBCD):c.2859T>C (p.Asp953=)
|
rs1127986
|
0.25255
|
NM_152309.3(PIK3AP1):c.2103T>C (p.Ser701=)
|
rs3748236
|
0.25229
|
NM_004168.4(SDHA):c.619A>C (p.Arg207=)
|
rs6555055
|
0.25190
|
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)
|
rs13070
|
0.25187
|
NM_004168.4(SDHA):c.684T>C (p.Asn228=)
|
rs2115272
|
0.25174
|
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=)
|
rs2060198
|
0.25169
|
NM_004168.4(SDHA):c.309A>G (p.Ala103=)
|
rs1139424
|
0.25161
|
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)
|
rs1139449
|
0.25156
|
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser)
|
rs2298014
|
0.25152
|
NM_004168.4(SDHA):c.896-20A>G
|
rs7710005
|
0.25110
|
NM_004984.4(KIF5A):c.36+5C>T
|
rs775249
|
0.25100
|
NM_000405.5(GM2A):c.*1445G>A
|
rs153450
|
0.25029
|
NM_001256864.2(DNAJC6):c.544-9C>T
|
rs2296481
|
0.25003
|
NM_001166114.2(PNPLA6):c.3699+42G>A
|
rs538852
|
0.24937
|
NM_138959.3(VANGL1):c.*3023G>T
|
rs10923204
|
0.24904
|
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=)
|
rs2294597
|
0.24864
|
NM_006261.5(PROP1):c.*354G>A
|
rs4604209
|
0.24860
|
NM_015192.4(PLCB1):c.3423+24A>C
|
rs2294598
|
0.24849
|
NM_001205293.3(CACNA1E):c.5073C>T (p.Asn1691=)
|
rs199930
|
0.24827
|
NM_001182.4(ALDH7A1):c.-132A>C
|
rs900641
|
0.24797
|
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
|
rs2230488
|
0.24795
|
NM_001020658.2(PUM1):c.3243-46_3243-45del
|
rs56387244
|
0.24759
|
NM_052874.5(STX1B):c.840A>G (p.Ser280=)
|
rs17855121
|
0.24748
|
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=)
|
rs6601
|
0.24705
|
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=)
|
rs9915880
|
0.24687
|
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=)
|
rs2076413
|
0.24634
|
NM_014494.4(TNRC6A):c.4122+20A>G
|
rs2059134
|
0.24619
|
NM_001142633.3(PIK3R5):c.2299+13G>A
|
rs9902600
|
0.24618
|
NM_003383.5(VLDLR):c.2416+8G>T
|
rs6145
|
0.24562
|
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)
|
rs6960
|
0.24550
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_025000.4(DCAF17):c.*2795T>C
|
rs17221346
|
0.24511
|
NM_004960.3(FUS):c.*770G>C
|
rs4889537
|
0.24493
|
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=)
|
rs13561
|
0.24486
|
NM_018082.6(POLR3B):c.*347A>G
|
rs2288266
|
0.24463
|
NM_198904.4(GABRG2):c.*2120_*2121del
|
rs34705786
|
0.24370
|
NM_001429.4(EP300):c.4452+20C>T
|
rs6002271
|
0.24366
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
NM_004035.7(ACOX1):c.1729-58A>C
|
rs2666005
|
0.24335
|
NM_015046.7(SETX):c.5374+16C>T
|
rs2296872
|
0.24325
|
NM_001127222.2(CACNA1A):c.4756-97G>A
|
rs8103699
|
0.24285
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
NM_004519.4(KCNQ3):c.*426C>G
|
rs10956640
|
0.24245
|
NM_004519.4(KCNQ3):c.*425C>A
|
rs10956641
|
0.24242
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24238
|
NM_138959.3(VANGL1):c.*6026G>A
|
rs6428677
|
0.24227
|
NM_001098511.3(KIF2A):c.65-20T>C
|
rs3213940
|
0.24224
|
NM_015166.4(MLC1):c.*1127C>T
|
rs9628320
|
0.24216
|
NM_000021.4(PSEN1):c.*3722C>T
|
rs362344
|
0.24215
|
NM_016373.4(WWOX):c.606-17G>A
|
rs4130513
|
0.24208
|
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala)
|
rs622082
|
0.24183
|
NM_004960.4(FUS):c.147C>A (p.Gly49=)
|
rs741810
|
0.24179
|
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)
|
rs546382
|
0.24174
|
NM_007055.4(POLR3A):c.*1965A>G
|
rs2241546
|
0.24142
|
NM_138775.3(ALKBH8):c.1030+9A>G
|
rs12574614
|
0.24106
|
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)
|
rs17720698
|
0.24032
|
NM_000405.5(GM2A):c.582A>G (p.Ter194=)
|
rs1048723
|
0.23979
|
NM_152564.5(VPS13B):c.10061+24G>A
|
rs34513504
|
0.23936
|
NM_015087.5(SPART):c.1629A>G (p.Ala543=)
|
rs2274293
|
0.23882
|
NM_002156.5(HSPD1):c.-15C>T
|
rs13165
|
0.23875
|
NM_001080397.3(SLC45A1):c.*20C>T
|
rs1055236
|
0.23806
|
NM_001379500.1(COL18A1):c.107-11850G>A
|
rs11702494
|
0.23796
|
NM_005186.4(CAPN1):c.338-102A>T
|
rs2277307
|
0.23783
|
NM_015087.5(SPART):c.*2123T>C
|
rs78129833
|
0.23770
|
NM_005186.4(CAPN1):c.363C>T (p.Ile121=)
|
rs17583
|
0.23769
|
NM_015166.4(MLC1):c.525+153G>A
|
rs6010166
|
0.23729
|
NM_016169.4(SUFU):c.*1122C>T
|
rs11596235
|
0.23724
|
NM_001163809.2(WDR81):c.5506-19C>G
|
rs62090051
|
0.23717
|
NM_022089.4(ATP13A2):c.3084-3C>T
|
rs7531163
|
0.23688
|
NM_182919.4(TICAM1):c.1671C>T (p.Asp557=)
|
rs2292151
|
0.23686
|
NM_003719.5(PDE8B):c.*516A>G
|
rs459366
|
0.23685
|
NM_007327.4(GRIN1):c.789A>G (p.Pro263=)
|
rs6293
|
0.23665
|
NM_182961.4(SYNE1):c.*182G>A
|
rs12681
|
0.23624
|
NM_033071.4(SYNE1):c.*750G>T
|
rs2813558
|
0.23608
|
NM_007327.4(GRIN1):c.855G>A (p.Val285=)
|
rs1126442
|
0.23587
|
NM_006736.6(DNAJB2):c.-36-110G>C
|
rs908197
|
0.23575
|
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=)
|
rs1129647
|
0.23538
|
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=)
|
rs1806201
|
0.23527
|
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val)
|
rs214950
|
0.23524
|
NM_015166.4(MLC1):c.*48A>G
|
rs137919
|
0.23521
|
NM_018718.3(CEP41):c.*4037A>G
|
rs7793239
|
0.23508
|
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=)
|
rs2272457
|
0.23362
|
NM_003104.6(SORD):c.806A>C (p.Asn269Thr)
|
rs930337
|
0.23350
|
NM_001846.4(COL4A2):c.2152C>T (p.Pro718Ser)
|
rs9583500
|
0.23344
|
NM_014263.4(YME1L1):c.2008-7G>A
|
rs11015538
|
0.23338
|
NM_178138.6(LHX3):c.79+1975G>A
|
rs2274116
|
0.23265
|
NM_020822.3(KCNT1):c.1200+12T>G
|
rs58604946
|
0.23256
|
NM_001145809.2(MYH14):c.2355-17C>T
|
rs28482851
|
0.23202
|
NM_000521.4(HEXB):c.300-32C>T
|
rs35711978
|
0.23197
|
NM_000742.4(CHRNA2):c.*1384C>T
|
rs2280376
|
0.23196
|
NM_006516.4(SLC2A1):c.-197A>C
|
rs11537640
|
0.23186
|
NM_006516.2(SLC2A1):c.-390delA
|
rs28365848
|
0.23160
|
NM_001846.4(COL4A2):c.4089G>A (p.Ala1363=)
|
rs4773199
|
0.23132
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_005120.3(MED12):c.4415+29T>C
|
rs10521349
|
0.23097
|
NM_014845.6(FIG4):c.1948+46C>A
|
rs9320315
|
0.23093
|
NM_001379500.1(COL18A1):c.1674+34A>C
|
rs12482088
|
0.23085
|
NM_000284.4(PDHA1):c.*1394C>T
|
rs55856360
|
0.22991
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
NM_138959.3(VANGL1):c.*6199A>T
|
rs3811007
|
0.22923
|
NM_015028.4(TNIK):c.2316C>T (p.Leu772=)
|
rs2291900
|
0.22910
|
NM_000284.4(PDHA1):c.760-15C>A
|
rs7058209
|
0.22904
|
NM_001365088.1(SLC12A6):c.475C>T (p.Leu159=)
|
rs7164902
|
0.22884
|
NM_002180.3(IGHMBP2):c.*681T>C
|
rs9095
|
0.22873
|
NM_003793.4(CTSF):c.126C>T (p.Pro42=)
|
rs1044522
|
0.22868
|
NM_000284.4(PDHA1):c.*1059G>A
|
rs15816
|
0.22867
|
NM_001163809.2(WDR81):c.*56A>G
|
rs2287322
|
0.22860
|
NM_000284.4(PDHA1):c.*844A>G
|
rs1042453
|
0.22833
|
NM_000284.4(PDHA1):c.*728C>T
|
rs1042452
|
0.22767
|
NM_014043.4(CHMP2B):c.*1589G>A
|
rs1060241
|
0.22762
|
NM_001845.6(COL4A1):c.85-11T>C
|
rs41275104
|
0.22726
|
NM_000284.4(PDHA1):c.*319G>T
|
rs1042449
|
0.22677
|
NM_020702.5(MYORG):c.1154T>A (p.Phe385Tyr)
|
rs7852399
|
0.22664
|
NM_012073.5(CCT5):c.*382C>T
|
rs2578641
|
0.22645
|
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)
|
rs12549048
|
0.22639
|
NM_000284.4(PDHA1):c.*322G>A
|
rs1042450
|
0.22629
|
NM_006922.4(SCN3A):c.695-46A>G
|
rs9333576
|
0.22613
|
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=)
|
rs10861607
|
0.22605
|
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr)
|
rs1800197
|
0.22589
|
NM_020631.6(PLEKHG5):c.-88+5G>A
|
rs3007429
|
0.22575
|
NM_000170.3(GLDC):c.501G>A (p.Glu167=)
|
rs35374927
|
0.22564
|
NM_006922.4(SCN3A):c.602+9C>T
|
rs7579000
|
0.22520
|
NM_004738.5(VAPB):c.*5298C>T
|
rs6015275
|
0.22495
|
NM_020066.5(FMN2):c.1830A>G (p.Ser610=)
|
rs3765588
|
0.22473
|
NM_014053.4(FLVCR1):c.*844T>C
|
rs12565125
|
0.22460
|
NM_004855.5(PIGB):c.-16A>G
|
rs28668016
|
0.22431
|
NM_001429.4(EP300):c.2989A>G (p.Ile997Val)
|
rs20551
|
0.22427
|
NM_006922.4(SCN3A):c.968-20G>T
|
rs11887309
|
0.22426
|
NM_005120.3(MED12):c.736-8A>C
|
rs62609586
|
0.22423
|
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)
|
rs17612126
|
0.22387
|
NM_015272.5(RPGRIP1L):c.1401+127A>G
|
rs7192060
|
0.22379
|
NM_152415.3(VPS37A):c.202T>C (p.Leu68=)
|
rs11555738
|
0.22377
|
NM_144599.5(NIPA1):c.*287T>C
|
rs3812924
|
0.22372
|
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=)
|
rs17135121
|
0.22358
|
NM_000925.4(PDHB):c.793-41G>A
|
rs62259769
|
0.22293
|
NM_152564.5(VPS13B):c.*1783C>T
|
rs7157
|
0.22293
|
NM_152415.3(VPS37A):c.1053C>T (p.Asp351=)
|
rs2285269
|
0.22285
|
NM_000925.4(PDHB):c.*99C>T
|
rs7230
|
0.22245
|
NM_002180.3(IGHMBP2):c.*427C>T
|
rs3750980
|
0.22234
|
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=)
|
rs8065251
|
0.22229
|
NM_000925.4(PDHB):c.*356A>G
|
rs1126737
|
0.22224
|
NM_004183.4(BEST1):c.1410G>A (p.Thr470=)
|
rs149698
|
0.22214
|
NM_004171.4(SLC1A2):c.603G>A (p.Pro201=)
|
rs752949
|
0.22188
|
NM_001244008.2(KIF1A):c.3641-8C>T
|
rs56024577
|
0.22160
|
NM_004171.4(SLC1A2):c.562-36T>C
|
rs3895234
|
0.22153
|
NM_144563.3(RPIA):c.*531T>G
|
rs6974
|
0.22151
|
NM_014263.4(YME1L1):c.691+16A>G
|
rs2275752
|
0.22144
|
NM_007118.4(TRIO):c.3033C>T (p.Asn1011=)
|
rs13189406
|
0.22131
|
NM_001008212.2(OPTN):c.369+39T>G
|
rs79529484
|
0.22121
|
NM_001414.4(EIF2B1):c.*355G>A
|
rs1050443
|
0.22121
|
NM_003690.5(PRKRA):c.685C>T (p.Leu229=)
|
rs62176107
|
0.22118
|
NM_001330574.2(ZNF711):c.-286+5C>T
|
rs41311563
|
0.22093
|
NM_003477.2(PDHX):c.-129C>T
|
rs112032820
|
0.22090
|
NM_001042646.3(TRAK1):c.900+43G>A
|
rs2290137
|
0.22083
|
NM_005120.3(MED12):c.205-38C>T
|
rs12850852
|
0.22082
|
NM_001330574.2(ZNF711):c.*632A>G
|
rs6653049
|
0.22070
|
NM_003730.6(RNASET2):c.516T>C (p.Leu172=)
|
rs13213697
|
0.22066
|
NM_004519.4(KCNQ3):c.*3035A>G
|
rs2469627
|
0.22054
|
NM_024921.4(POF1B):c.*1626G>A
|
rs16980188
|
0.22046
|
NM_024921.4(POF1B):c.*1431A>C
|
rs16980189
|
0.22033
|
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=)
|
rs16850131
|
0.21998
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
NM_006922.4(SCN3A):c.1381-34G>A
|
rs58539679
|
0.21988
|
NM_000702.4(ATP1A2):c.*2259T>A
|
rs3747625
|
0.21913
|
NM_001077418.3(TMEM231):c.-6G>C
|
rs3743602
|
0.21908
|
NM_001330574.2(ZNF711):c.*153A>G
|
rs2343388
|
0.21897
|
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=)
|
rs9912287
|
0.21861
|
NM_018122.5(DARS2):c.228-20T>C
|
rs55878143
|
0.21856
|
NM_005097.4(LGI1):c.674-18T>C
|
rs1108877
|
0.21834
|
NM_004035.7(ACOX1):c.*5164A>G
|
rs3643
|
0.21826
|
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala)
|
rs11539202
|
0.21800
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
NM_014324.6(AMACR):c.*663G>A
|
rs15612
|
0.21767
|
NM_014053.4(FLVCR1):c.*931C>T
|
rs12567713
|
0.21766
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_177924.5(ASAH1):c.704-19T>C
|
rs17515291
|
0.21755
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)
|
rs2737699
|
0.21736
|
NM_000702.4(ATP1A2):c.*1026A>G
|
rs2070704
|
0.21697
|
NM_000702.4(ATP1A2):c.*1095T>A
|
rs56199408
|
0.21686
|
NM_000170.3(GLDC):c.249G>A (p.Gly83=)
|
rs12341698
|
0.21682
|
NM_000702.4(ATP1A2):c.*1629T>C
|
rs1046995
|
0.21680
|
NM_014053.4(FLVCR1):c.1307+19T>A
|
rs2291772
|
0.21660
|
NM_014053.4(FLVCR1):c.*1106C>T
|
rs12567728
|
0.21651
|
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=)
|
rs8077638
|
0.21643
|
NM_014053.4(FLVCR1):c.*673G>A
|
rs41301027
|
0.21642
|
NM_000702.4(ATP1A2):c.*746C>T
|
rs62620182
|
0.21625
|
NM_000702.4(ATP1A2):c.*748C>T
|
rs2070703
|
0.21623
|
NM_014053.4(FLVCR1):c.1593+9T>C
|
rs17019870
|
0.21623
|
NM_014053.4(FLVCR1):c.*2968G>A
|
rs10902
|
0.21622
|
NM_057175.5(NAA15):c.1753+12del
|
rs3217605
|
0.21617
|
NM_000318.3(PEX2):c.-164C>A
|
rs12718
|
0.21609
|
NM_014844.5(TECPR2):c.2934-230T>C
|
rs2273907
|
0.21592
|
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His)
|
rs2258689
|
0.21570
|
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)
|
rs1385129
|
0.21537
|
NM_020771.4(HACE1):c.2292T>C (p.Phe764=)
|
rs7752614
|
0.21476
|
NM_018325.5(C9orf72):c.*1344C>T
|
rs13691
|
0.21385
|
NM_001909.5(CTSD):c.*67A>G
|
rs12214
|
0.21384
|
NM_003690.5(PRKRA):c.*198C>T
|
rs3997878
|
0.21384
|
NM_003690.5(PRKRA):c.*3C>T
|
rs3997876
|
0.21371
|
NM_145868.2(ANXA11):c.858+42C>T
|
rs3000941
|
0.21367
|
NM_178138.6(LHX3):c.454+64C>T
|
rs2274114
|
0.21362
|
NM_025136.4(OPA3):c.*3874G>A
|
rs62109650
|
0.21272
|
NM_001037333.3(CYFIP2):c.2817+12C>A
|
rs2289851
|
0.21242
|
NM_172107.4(KCNQ2):c.388-26G>T
|
rs6062939
|
0.21189
|
NM_000405.5(GM2A):c.*1994A>G
|
rs12516391
|
0.21184
|
NM_000405.5(GM2A):c.*1866C>T
|
rs3806953
|
0.21159
|
NM_015160.3(PMPCA):c.1200+33G>A
|
rs4604565
|
0.21146
|
NM_001958.5(EEF1A2):c.772+31C>A
|
rs12480745
|
0.21133
|
NM_014053.4(FLVCR1):c.*2908G>A
|
rs1284853
|
0.21097
|
NM_024665.7(TBL1XR1):c.766+5A>G
|
rs3749234
|
0.21092
|
NM_014053.4(FLVCR1):c.*3313G>T
|
rs15903
|
0.21069
|
NM_004519.4(KCNQ3):c.*6340G>A
|
rs2469629
|
0.21022
|
NM_005506.4(SCARB2):c.1113+14T>A
|
rs35369082
|
0.21009
|
NM_004171.4(SLC1A2):c.311-37A>G
|
rs10836370
|
0.20991
|
NM_006059.4(LAMC3):c.4231-10C>T
|
rs4740411
|
0.20977
|
NM_018026.4(PACS1):c.2293+6G>C
|
rs476551
|
0.20949
|
NM_000284.4(PDHA1):c.*1377G>A
|
rs56039350
|
0.20892
|
NM_016169.4(SUFU):c.*2585T>C
|
rs11191355
|
0.20858
|
NM_000170.3(GLDC):c.1261+36A>G
|
rs11789777
|
0.20837
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_152722.5(HEPACAM):c.618C>T (p.Arg206=)
|
rs10790716
|
0.20834
|
NM_004715.5(CTDP1):c.978G>A (p.Thr326=)
|
rs599554
|
0.20817
|
NM_001376.5(DYNC1H1):c.4396-25A>G
|
rs2251644
|
0.20803
|
NM_018325.5(C9orf72):c.*1406T>C
|
rs9103
|
0.20796
|
NM_006087.4(TUBB4A):c.*804C>G
|
rs1053395
|
0.20756
|
NM_004519.4(KCNQ3):c.*6956A>G
|
rs2469630
|
0.20752
|
NM_003104.6(SORD):c.908+11C>T
|
rs28495265
|
0.20727
|
NM_018325.5(C9orf72):c.870C>T (p.Ser290=)
|
rs10122902
|
0.20696
|
NM_001008212.2(OPTN):c.166+66A>G
|
rs10906303
|
0.20691
|
NM_004519.4(KCNQ3):c.*8148G>A
|
rs1437822
|
0.20680
|
NM_004519.4(KCNQ3):c.*5932A>C
|
rs2436130
|
0.20676
|
NM_006059.4(LAMC3):c.4376G>A (p.Arg1459Gln)
|
rs4740412
|
0.20674
|
NM_004519.4(KCNQ3):c.*7143A>G
|
rs2436125
|
0.20673
|
NM_004519.4(KCNQ3):c.*7221C>T
|
rs2436124
|
0.20669
|
NM_004519.4(KCNQ3):c.*7119C>T
|
rs2436126
|
0.20665
|
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)
|
rs2236654
|
0.20662
|
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)
|
rs11228413
|
0.20651
|
NM_007347.5(AP4E1):c.1066+51T>C
|
rs2291107
|
0.20641
|
NM_002778.4(PSAP):c.1431+116C>T
|
rs749823
|
0.20609
|
NM_004519.4(KCNQ3):c.*7075A>G
|
rs2436127
|
0.20581
|
NM_004519.4(KCNQ3):c.*7033T>C
|
rs2436128
|
0.20576
|
NM_006059.4(LAMC3):c.1218G>A (p.Thr406=)
|
rs2293518
|
0.20549
|
NM_000286.3(PEX12):c.*166C>A
|
rs1037590
|
0.20532
|
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn)
|
rs4915691
|
0.20494
|
NM_033305.3(VPS13A):c.1901-215G>A
|
rs2022444
|
0.20477
|
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)
|
rs3738815
|
0.20463
|
NM_033305.3(VPS13A):c.2170+42G>A
|
rs2021998
|
0.20458
|
NM_001376.5(DYNC1H1):c.8344-30G>A
|
rs2180510
|
0.20452
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
NM_205836.3(FBXO38):c.962+18A>G
|
rs10077690
|
0.20380
|
NM_000702.4(ATP1A2):c.*589G>C
|
rs2070702
|
0.20323
|
NM_001040142.2(SCN2A):c.4255-31A>G
|
rs1864885
|
0.20300
|
NM_002361.4(MAG):c.399C>T (p.Ser133=)
|
rs2301600
|
0.20297
|
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala)
|
rs4984636
|
0.20272
|
NM_001257180.2(SLC20A2):c.*1057C>G
|
rs6841
|
0.20257
|
NM_001844.5(COL2A1):c.1366-11C>T
|
rs10875714
|
0.20215
|
NM_004519.4(KCNQ3):c.*6874C>G
|
rs2436129
|
0.20211
|
NM_018325.5(C9orf72):c.-27G>A
|
rs10757668
|
0.20162
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
NM_001844.5(COL2A1):c.504C>A (p.Gly168=)
|
rs3737548
|
0.20086
|
NM_018319.4(TDP1):c.*77C>T
|
rs9488
|
0.20063
|
NM_000099.4(CST3):c.73G>A (p.Ala25Thr)
|
rs1064039
|
0.20062
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_003119.4(SPG7):c.1450-29G>A
|
rs462464
|
0.20021
|
NM_002087.4(GRN):c.264+21G>A
|
rs9897526
|
0.19972
|
NM_001037.5(SCN1B):c.40+15G>T
|
rs72556351
|
0.19938
|
NM_005458.8(GABBR2):c.2413-4G>C
|
rs970388
|
0.19916
|
NM_182961.4(SYNE1):c.*103C>A
|
rs2250122
|
0.19913
|
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)
|
rs3825798
|
0.19899
|
NM_003790.3(TNFRSF25):c.-16C>T
|
rs3007417
|
0.19870
|
NM_000033.4(ABCD1):c.*608G>A
|
rs73640819
|
0.19859
|
NM_025000.4(DCAF17):c.*3112C>G
|
rs17221367
|
0.19832
|
NM_025000.4(DCAF17):c.999A>G (p.Gln333=)
|
rs3731983
|
0.19825
|
NM_025000.4(DCAF17):c.*570G>A
|
rs3795998
|
0.19821
|
NM_025000.4(DCAF17):c.*3703A>G
|
rs9789572
|
0.19820
|
NM_025000.4(DCAF17):c.*676T>G
|
rs3821084
|
0.19818
|
NM_007055.4(POLR3A):c.*1323C>T
|
rs45570840
|
0.19800
|
NM_015272.5(RPGRIP1L):c.3432+67G>A
|
rs113961478
|
0.19784
|
NM_003383.5(VLDLR):c.1313-17A>T
|
rs6144
|
0.19776
|
NM_033305.3(VPS13A):c.*222G>A
|
rs12343797
|
0.19772
|
NM_025000.4(DCAF17):c.1267-7C>T
|
rs3731981
|
0.19769
|
NM_025000.4(DCAF17):c.*2425T>A
|
rs12151641
|
0.19764
|
NM_000096.4(CP):c.*769G>A
|
rs1053669
|
0.19723
|
NM_007055.4(POLR3A):c.*1461A>G
|
rs3088264
|
0.19707
|
NM_002087.4(GRN):c.-8+46G>T
|
rs564341543
|
0.19681
|
NM_014026.6(DCPS):c.189C>T (p.Phe63=)
|
rs695029
|
0.19665
|
NM_003477.2(PDHX):c.-202A>G
|
rs113073242
|
0.19613
|
NM_015957.4(APIP):c.57+77C>T
|
rs16926448
|
0.19609
|
NM_004171.4(SLC1A2):c.157+31C>G
|
rs2273687
|
0.19605
|
NM_003477.3(PDHX):c.108T>C (p.Ser36=)
|
rs1049307
|
0.19592
|
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)
|
rs1049306
|
0.19588
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_001008212.2(OPTN):c.102G>A (p.Thr34=)
|
rs2234968
|
0.19474
|
NM_003119.4(SPG7):c.1779+47G>C
|
rs3794632
|
0.19456
|
NM_000744.7(CHRNA4):c.1758+14A>G
|
rs3827020
|
0.19437
|
NM_020631.5(PLEKHG5):c.*990C>T
|
rs3007418
|
0.19422
|
NM_005359.6(SMAD4):c.*5131A>G
|
rs12456284
|
0.19420
|
NM_004565.3(PEX14):c.384+14A>T
|
rs284238
|
0.19360
|
NM_005334.3(HCFC1):c.713-13C>T
|
rs59607260
|
0.19358
|
NM_001371986.1(UNC80):c.3455-13A>G
|
rs2191906
|
0.19284
|
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)
|
rs2071133
|
0.19260
|
NM_001376.5(DYNC1H1):c.1462-41G>A
|
rs2983422
|
0.19200
|
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)
|
rs1953337
|
0.19198
|
NM_001127178.3(PIGG):c.1989C>T (p.Ala663=)
|
rs13150531
|
0.19173
|
NM_001127178.3(PIGG):c.1828T>C (p.Cys610Arg)
|
rs7666425
|
0.19169
|
NM_001127178.3(PIGG):c.1743T>C (p.Leu581=)
|
rs7666226
|
0.19160
|
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu)
|
rs5763269
|
0.19153
|
NM_005334.3(HCFC1):c.1085-22C>G
|
rs17421
|
0.19150
|
NM_001854.4(COL11A1):c.*1183A>G
|
rs9659030
|
0.19114
|
NM_012179.4(FBXO7):c.122+272T>G
|
rs8137714
|
0.19102
|
NM_007126.5(VCP):c.*153G>T
|
rs1053318
|
0.19091
|
NM_182961.4(SYNE1):c.20530-14G>A
|
rs2296254
|
0.19082
|
NM_001349.4(DARS1):c.505-13T>C
|
rs371309040
|
0.19073
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
NM_001127178.3(PIGG):c.2795T>C (p.Phe932Ser)
|
rs1127410
|
0.19048
|
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met)
|
rs2305777
|
0.19038
|
NM_018026.4(PACS1):c.1993+8C>T
|
rs2236651
|
0.18987
|
NM_001127178.3(PIGG):c.2642T>C (p.Ile881Thr)
|
rs34623004
|
0.18986
|
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=)
|
rs7025532
|
0.18911
|
NM_020987.5(ANK3):c.8895T>C (p.Ala2965=)
|
rs10740006
|
0.18901
|
NM_006859.4(LIAS):c.45+15G>A
|
rs2687959
|
0.18886
|
NM_013275.6(ANKRD11):c.7713+54G>C
|
rs12709112
|
0.18870
|
NM_014494.4(TNRC6A):c.555T>A (p.Asn185Lys)
|
rs11639856
|
0.18867
|
NM_001846.4(COL4A2):c.2759-5T>C
|
rs3803228
|
0.18857
|
NM_001378457.1(DMXL2):c.1346-39A>G
|
rs12904173
|
0.18855
|
NM_001378457.1(DMXL2):c.1490C>T (p.Thr497Met)
|
rs17524906
|
0.18836
|
NM_015915.5(ATL1):c.84A>G (p.Pro28=)
|
rs35014209
|
0.18809
|
NM_002180.3(IGHMBP2):c.-2C>T
|
rs4930624
|
0.18778
|
NM_001378457.1(DMXL2):c.5051+23G>A
|
rs17524750
|
0.18767
|
NM_020987.5(ANK3):c.9368A>G (p.Lys3123Arg)
|
rs10821668
|
0.18742
|
NM_020631.6(PLEKHG5):c.1681-20T>C
|
rs2986753
|
0.18735
|
NM_004068.4(AP2M1):c.960C>T (p.Ile320=)
|
rs8478
|
0.18694
|
NM_001008212.2(OPTN):c.-215G>A
|
rs11548142
|
0.18691
|
NM_000391.4(TPP1):c.1075+42C>T
|
rs2072651
|
0.18683
|
NM_018100.4(EFHC1):c.573+10A>G
|
rs9349626
|
0.18650
|
NM_033409.4(SLC52A3):c.800C>T (p.Pro267Leu)
|
rs3746804
|
0.18642
|
NM_001350451.2(RBFOX3):c.66C>T (p.Tyr22=)
|
rs80198744
|
0.18638
|
NM_018325.5(C9orf72):c.*921C>A
|
rs3739526
|
0.18576
|
NM_198859.4(PRICKLE2):c.*2797A>T
|
rs35969433
|
0.18557
|
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser)
|
rs3746951
|
0.18525
|
NM_018718.3(CEP41):c.*2041G>A
|
rs73152868
|
0.18522
|
NM_001098.3(ACO2):c.1370+48A>G
|
rs12484694
|
0.18477
|
NM_006013.5(RPL10):c.-24+3G>A
|
rs915942
|
0.18464
|
NM_014846.4(WASHC5):c.979-20C>T
|
rs12546285
|
0.18463
|
NM_003477.2(PDHX):c.-124G>C
|
rs375130125
|
0.18392
|
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=)
|
rs1063125
|
0.18359
|
NM_014494.4(TNRC6A):c.1774G>A (p.Ala592Thr)
|
rs6497759
|
0.18353
|
NM_005670.4(EPM2A):c.402G>A (p.Gly134=)
|
rs35230590
|
0.18342
|
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)
|
rs2126082
|
0.18278
|
NM_000817.3(GAD1):c.-147G>A
|
rs3749034
|
0.18184
|
NM_003383.5(VLDLR):c.1066+43C>T
|
rs10967320
|
0.18162
|
NM_001271.4(CHD2):c.4692+43A>G
|
rs2119010
|
0.18154
|
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
NM_000811.3(GABRA6):c.9G>A (p.Ser3=)
|
rs13188991
|
0.18038
|
NM_014494.4(TNRC6A):c.2362C>T (p.Pro788Ser)
|
rs3803716
|
0.18031
|
NM_015192.4(PLCB1):c.102C>T (p.Asp34=)
|
rs16994453
|
0.18027
|
NM_001103146.3(GIGYF2):c.3651G>A (p.Pro1217=)
|
rs12328151
|
0.17959
|
NM_003265.3(TLR3):c.-7C>A
|
rs3775296
|
0.17914
|
NM_020919.4(ALS2):c.4580+7G>A
|
rs3219169
|
0.17898
|
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=)
|
rs12077111
|
0.17885
|
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=)
|
rs11208644
|
0.17883
|
NM_007126.5(VCP):c.129+47G>A
|
rs10972300
|
0.17835
|
NM_014806.5(RUSC2):c.3342-10C>T
|
rs2295842
|
0.17831
|
NM_007118.4(TRIO):c.5203+20G>A
|
rs56207939
|
0.17811
|
NM_001379500.1(COL18A1):c.846G>T (p.Thr282=)
|
rs2230688
|
0.17750
|
NM_198859.4(PRICKLE2):c.-557C>T
|
rs697287
|
0.17712
|
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro)
|
rs1800866
|
0.17661
|
NM_015915.5(ATL1):c.630+7G>A
|
rs3759588
|
0.17660
|
NM_001371986.1(UNC80):c.3333C>G (p.Leu1111=)
|
rs10178675
|
0.17606
|
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met)
|
rs2306899
|
0.17541
|
NM_015166.4(MLC1):c.1059+16G>A
|
rs5771338
|
0.17531
|
NM_025219.3(DNAJC5):c.*2912C>T
|
rs749723
|
0.17505
|
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=)
|
rs2565061
|
0.17492
|
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
|
rs16030
|
0.17482
|
NM_003072.5(SMARCA4):c.4425-5330G>T
|
rs1122608
|
0.17470
|
NM_152309.3(PIK3AP1):c.1913A>G (p.Lys638Arg)
|
rs12784975
|
0.17461
|
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=)
|
rs8011292
|
0.17455
|
NM_005045.4(RELN):c.10074A>G (p.Ala3358=)
|
rs1062831
|
0.17444
|
NM_005076.5(CNTN2):c.433G>A (p.Ala145Thr)
|
rs2275697
|
0.17435
|
NM_001271.4(CHD2):c.5154-74C>T
|
rs12905033
|
0.17307
|
NM_001271.4(CHD2):c.5154-75C>T
|
rs12905032
|
0.17303
|
NM_001110792.2(MECP2):c.*878C>G
|
rs3027924
|
0.17278
|
NM_152564.5(VPS13B):c.3666+55T>C
|
rs3134156
|
0.17268
|
NM_015346.4(ZFYVE26):c.*1740C>A
|
rs9449
|
0.17216
|
NM_016169.4(SUFU):c.*2668C>T
|
rs11594179
|
0.17207
|
NM_018718.3(CEP41):c.*1859G>T
|
rs73152869
|
0.17105
|
NM_138959.3(VANGL1):c.*83T>A
|
rs3811013
|
0.17099
|
NM_005045.4(RELN):c.7887T>C (p.Pro2629=)
|
rs56345626
|
0.17070
|
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu)
|
rs2296212
|
0.17040
|
NM_013328.4(PYCR2):c.797+14G>A
|
rs10915897
|
0.17024
|
NM_014855.3(AP5Z1):c.1707+11T>C
|
rs3750012
|
0.17011
|
NM_020822.3(KCNT1):c.2008+21G>A
|
rs7869884
|
0.16982
|
NM_001122752.2(SERPINI1):c.-19+92G>A
|
rs9835352
|
0.16968
|
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=)
|
rs45437097
|
0.16963
|
NM_015166.4(MLC1):c.894+194G>A
|
rs2076127
|
0.16956
|
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)
|
rs11537641
|
0.16943
|
NM_198859.4(PRICKLE2):c.*1310C>T
|
rs17069879
|
0.16935
|
NM_020708.5(SLC12A5):c.2280C>T (p.Ser760=)
|
rs3746522
|
0.16926
|
NM_014053.4(FLVCR1):c.*1600G>A
|
rs55793082
|
0.16870
|
NM_004385.5(VCAN):c.1283G>A (p.Gly428Asp)
|
rs2287926
|
0.16841
|
NM_203446.3(SYNJ1):c.3588+14C>T
|
rs11702774
|
0.16837
|
NM_138959.3(VANGL1):c.*6212C>T
|
rs3811006
|
0.16816
|
NM_138959.3(VANGL1):c.*4504C>T
|
rs17034228
|
0.16812
|
NM_138959.3(VANGL1):c.*5266C>T
|
rs17034230
|
0.16811
|
NM_000061.3(BTK):c.776+78G>A
|
rs2855259
|
0.16810
|
NM_001122955.4(BSCL2):c.486+11G>T
|
rs72929434
|
0.16805
|
NM_001365088.1(SLC12A6):c.*2637A>G
|
rs59712831
|
0.16772
|
NM_004519.4(KCNQ3):c.1700+29G>A
|
rs2469515
|
0.16763
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_002156.5(HSPD1):c.69T>C (p.Thr23=)
|
rs1050347
|
0.16721
|
NM_001166114.2(PNPLA6):c.3210+20T>G
|
rs45505598
|
0.16710
|
NM_007347.5(AP4E1):c.150+33A>G
|
rs76674534
|
0.16669
|
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=)
|
rs1805247
|
0.16667
|
NM_014365.3(HSPB8):c.*684G>A
|
rs1133026
|
0.16667
|
NM_002578.5(PAK3):c.431-26A>G
|
rs16986385
|
0.16664
|
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile)
|
rs2472553
|
0.16614
|
NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser)
|
rs7187227
|
0.16607
|
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro)
|
rs17854645
|
0.16605
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_001205293.3(CACNA1E):c.3447C>T (p.Ile1149=)
|
rs34488539
|
0.16515
|
NM_001378969.1(KCND3):c.1269+15C>A
|
rs3738298
|
0.16477
|
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)
|
rs11549708
|
0.16388
|
NM_005458.8(GABBR2):c.2005-22C>T
|
rs2304390
|
0.16356
|
NM_006922.4(SCN3A):c.2547A>C (p.Val849=)
|
rs62174900
|
0.16330
|
NM_005458.8(GABBR2):c.2052C>T (p.Pro684=)
|
rs2304389
|
0.16316
|
NM_001288705.3(CSF1R):c.*769A>G
|
rs3828609
|
0.16291
|
NM_015046.7(SETX):c.*562C>A
|
rs11787894
|
0.16282
|
NM_001127222.2(CACNA1A):c.5401-14C>T
|
rs16042
|
0.16269
|
NM_033064.5(ATCAY):c.1074-14T>C
|
rs10420591
|
0.16262
|
NM_006059.4(LAMC3):c.4477+13T>C
|
rs2275143
|
0.16247
|
NM_015046.7(SETX):c.*626C>T
|
rs11795382
|
0.16247
|
NM_015046.7(SETX):c.7100+27A>G
|
rs2296865
|
0.16223
|
NM_001365088.1(SLC12A6):c.3043-75C>T
|
rs17817800
|
0.16216
|
NM_001142633.3(PIK3R5):c.205-21C>T
|
rs92535
|
0.16172
|
NM_001365088.1(SLC12A6):c.1333+20G>T
|
rs2290941
|
0.16150
|
NM_001365088.1(SLC12A6):c.1551G>C (p.Pro517=)
|
rs17236798
|
0.16144
|
NM_001365088.1(SLC12A6):c.1236G>A (p.Ser412=)
|
rs2290940
|
0.16143
|
NM_024411.5(PDYN):c.600T>C (p.His200=)
|
rs6045819
|
0.16142
|
NM_001365088.1(SLC12A6):c.2803-25T>C
|
rs17817806
|
0.16133
|
NM_020919.4(ALS2):c.20+7T>C
|
rs3219153
|
0.16113
|
NM_022168.4(IFIH1):c.2616+11T>C
|
rs3747518
|
0.16097
|
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=)
|
rs13181449
|
0.16076
|
NM_001031726.3(C19orf12):c.*3819T>G
|
rs11879584
|
0.16068
|
NM_006736.6(DNAJB2):c.230-10G>A
|
rs3731897
|
0.16060
|
NM_003383.5(VLDLR):c.*551T>C
|
rs8210
|
0.16040
|
NM_004385.5(VCAN):c.*1436C>T
|
rs15071
|
0.16029
|
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=)
|
rs17464525
|
0.16017
|
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=)
|
rs3027878
|
0.16009
|
NM_006267.5(RANBP2):c.1456-7A>G
|
rs144029181
|
0.16005
|
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=)
|
rs2071134
|
0.15977
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_001386393.1(PANK2):c.1083-14_1083-9dup
|
rs10679953
|
0.15963
|
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)
|
rs11558492
|
0.15938
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)
|
rs506028
|
0.15920
|
NR_110634.1(LOC100130587):n.219C>T
|
rs6122429
|
0.15920
|
NM_004738.5(VAPB):c.*4271A>G
|
rs4549163
|
0.15908
|
NM_001365088.1(SLC12A6):c.*494A>G
|
rs16958873
|
0.15870
|
NM_003630.3(PEX3):c.*546A>G
|
rs10809
|
0.15859
|
NM_024306.5(FA2H):c.888A>G (p.Val296=)
|
rs11554621
|
0.15840
|
NM_153252.5(BRWD3):c.*3850G>C
|
rs45627037
|
0.15831
|
NM_001199753.2(CPT1C):c.2133+11_2133+12insA
|
rs754179152
|
0.15802
|
NM_007055.4(POLR3A):c.*1763G>A
|
rs4979935
|
0.15801
|
NM_000742.4(CHRNA2):c.-563T>A
|
rs2565060
|
0.15796
|
NM_001160148.2(DDHD1):c.2521+10del
|
rs78491021
|
0.15775
|
NM_004183.4(BEST1):c.1557C>T (p.Ser519=)
|
rs1800008
|
0.15775
|
NM_153252.5(BRWD3):c.*5993G>C
|
rs7065450
|
0.15763
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
NM_000391.4(TPP1):c.1426-78T>C
|
rs1800723
|
0.15684
|
NM_018718.3(CEP41):c.*1931C>T
|
rs17133175
|
0.15684
|
NM_003924.4(PHOX2B):c.*674dup
|
rs397840867
|
0.15674
|
NM_003690.5(PRKRA):c.-24G>A
|
rs62176113
|
0.15636
|
NM_012062.5(DNM1L):c.252G>A (p.Gly84=)
|
rs2272238
|
0.15635
|
NM_006180.6(NTRK2):c.1937+13G>A
|
rs2289656
|
0.15606
|
NM_005121.3(MED13):c.470+23G>A
|
rs4968467
|
0.15578
|
NM_001127178.3(PIGG):c.2095G>A (p.Val699Ile)
|
rs13114026
|
0.15552
|
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_000253.3(MTTP):c.-252G>C
|
rs11944749
|
0.15525
|
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)
|
rs5030732
|
0.15471
|
NM_198859.4(PRICKLE2):c.*2891C>T
|
rs34723451
|
0.15467
|
NM_032409.3(PINK1):c.189C>T (p.Leu63=)
|
rs45530340
|
0.15436
|
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)
|
rs3812153
|
0.15428
|
NM_004380.3(CREBBP):c.3837-8C>T
|
rs3025684
|
0.15427
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000447.3(PSEN2):c.-275C>T
|
rs1295645
|
0.15385
|
NM_004738.5(VAPB):c.*1282A>G
|
rs1802459
|
0.15337
|
NM_000030.3(AGXT):c.264C>T (p.Ala88=)
|
rs35698882
|
0.15328
|
NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr)
|
rs11552449
|
0.15327
|
NM_001846.4(COL4A2):c.-133A>G
|
rs35466678
|
0.15263
|
NM_152743.4(BRAT1):c.699G>A (p.Thr233=)
|
rs61753095
|
0.15251
|
NM_001205293.3(CACNA1E):c.1639-19G>A
|
rs4651113
|
0.15248
|
NM_152722.5(HEPACAM):c.877+14C>T
|
rs11826299
|
0.15246
|
NM_004933.3(CDH15):c.1023G>A (p.Ser341=)
|
rs72819366
|
0.15210
|
NM_001371986.1(UNC80):c.3250+46C>A
|
rs9288414
|
0.15170
|
NM_012179.4(FBXO7):c.-184C>T
|
rs11538371
|
0.15154
|
NM_003383.5(VLDLR):c.1187-3C>T
|
rs11789583
|
0.15129
|
NM_005120.3(MED12):c.3354+27G>C
|
rs5030617
|
0.15058
|
NM_000702.4(ATP1A2):c.495+96G>A
|
rs17846707
|
0.15041
|
NM_000030.3(AGXT):c.942+127C>T
|
rs111576306
|
0.15015
|
NM_031448.6(C19orf12):c.*1219C>T
|
rs1129852
|
0.15013
|
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)
|
rs28938169
|
0.15001
|
NM_004183.3(BEST1):c.-329C>T
|
rs972354
|
0.14911
|
NM_002025.4(AFF2):c.1488G>A (p.Ser496=)
|
rs12011040
|
0.14855
|
NM_000030.3(AGXT):c.680+17C>T
|
rs11693280
|
0.14843
|
NM_005154.5(USP8):c.104+16C>T
|
rs11632708
|
0.14838
|
NM_000834.5(GRIN2B):c.1125+20A>G
|
rs11055581
|
0.14832
|
NM_003383.5(VLDLR):c.1312+27G>A
|
rs11793899
|
0.14831
|
NM_000030.3(AGXT):c.358+13C>T
|
rs34995778
|
0.14826
|
NM_015166.4(MLC1):c.*45A>G
|
rs2072873
|
0.14823
|
NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=)
|
rs13297480
|
0.14798
|
NM_001845.6(COL4A1):c.4640+7C>T
|
rs2275843
|
0.14797
|
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=)
|
rs1052553
|
0.14782
|
NM_016169.4(SUFU):c.*1373C>T
|
rs17114808
|
0.14776
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_001351132.2(PEX5):c.*141G>A
|
rs3813737
|
0.14722
|
NM_020771.4(HACE1):c.2014+27A>G
|
rs7741145
|
0.14695
|
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=)
|
rs17652121
|
0.14693
|
NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala)
|
rs62063787
|
0.14671
|
NM_016169.4(SUFU):c.*391A>G
|
rs2298278
|
0.14670
|
NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu)
|
rs63750417
|
0.14668
|
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn)
|
rs62063786
|
0.14666
|
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro)
|
rs10445337
|
0.14666
|
NM_001377265.1(MAPT):c.1732+2342T>C
|
rs62063845
|
0.14662
|
NM_016169.4(SUFU):c.1299T>C (p.Ile433=)
|
rs17114803
|
0.14628
|
NM_001377265.1(MAPT):c.220+2535A>G
|
rs1800547
|
0.14618
|
NM_001377265.1(MAPT):c.220+18C>T
|
rs75242405
|
0.14617
|
NM_016169.4(SUFU):c.*1715A>G
|
rs11818043
|
0.14606
|
NM_001909.5(CTSD):c.*597A>C
|
rs8839
|
0.14604
|
NM_033305.3(VPS13A):c.6378+15A>T
|
rs12348097
|
0.14593
|
NM_182961.4(SYNE1):c.17745C>T (p.His5915=)
|
rs12664753
|
0.14557
|
NM_018129.4(PNPO):c.165C>T (p.Ser55=)
|
rs11079804
|
0.14534
|
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala)
|
rs165602
|
0.14527
|
NM_032409.3(PINK1):c.*415C>G
|
rs8064
|
0.14517
|
NM_001145809.2(MYH14):c.2827-9A>C
|
rs3745503
|
0.14515
|
NM_001377265.1(MAPT):c.*1101A>G
|
rs1052590
|
0.14499
|
NM_001377265.1(MAPT):c.*1759T>C
|
rs7687
|
0.14487
|
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=)
|
rs3822434
|
0.14485
|
NM_004519.4(KCNQ3):c.*5719C>T
|
rs11786417
|
0.14483
|
NM_001377265.1(MAPT):c.*2806A>C
|
rs2158257
|
0.14473
|
NM_004519.4(KCNQ3):c.*7506C>T
|
rs11785257
|
0.14469
|
NM_001377265.1(MAPT):c.*1067T>C
|
rs1052587
|
0.14468
|
NM_001377265.1(MAPT):c.*2972T>C
|
rs17574228
|
0.14466
|
NM_000475.5(NR0B1):c.114C>T (p.Cys38=)
|
rs6150
|
0.14452
|
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=)
|
rs3742037
|
0.14446
|
NM_001377265.1(MAPT):c.*2079C>T
|
rs17652748
|
0.14441
|
NM_015443.4(KANSL1):c.2742C>T (p.Asp914=)
|
rs35833914
|
0.14434
|
NM_015443.4(KANSL1):c.2751C>T (p.Phe917=)
|
rs36076725
|
0.14426
|
NM_001374828.1(ARID1B):c.4383-7A>G
|
rs112318565
|
0.14423
|
NM_000156.6(GAMT):c.460-31G>A
|
rs55776826
|
0.14411
|
NM_005149.3(TBX19):c.603+11G>T
|
rs12096093
|
0.14406
|
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)
|
rs11542889
|
0.14383
|
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_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)
|
rs17651549
|
0.14348
|
NM_002180.3(IGHMBP2):c.*665C>T
|
rs9769
|
0.14339
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_000368.5(TSC1):c.*1934A>G
|
rs10491534
|
0.14325
|
NM_016169.4(SUFU):c.*1633C>T
|
rs17114810
|
0.14323
|
NM_001845.6(COL4A1):c.*587C>A
|
rs13260
|
0.14311
|
NM_001037.5(SCN1B):c.*86A>C
|
rs2278996
|
0.14285
|
NM_000021.4(PSEN1):c.*947G>A
|
rs7523
|
0.14277
|
NM_006796.3(AFG3L2):c.-96G>C
|
rs12327346
|
0.14255
|
NM_006516.2(SLC2A1):c.-490G>C
|
rs3754226
|
0.14227
|
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=)
|
rs12483761
|
0.14219
|
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg)
|
rs11539471
|
0.14167
|
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=)
|
rs7143196
|
0.14152
|
NM_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
NM_015166.4(MLC1):c.525+22G>A
|
rs2072874
|
0.14143
|
NM_015166.4(MLC1):c.525+64G>A
|
rs2076137
|
0.14127
|
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025
|
0.14118
|
NM_198859.4(PRICKLE2):c.*2724C>A
|
rs12494731
|
0.14074
|
NM_001037.5(SCN1B):c.*42T>C
|
rs2278995
|
0.14069
|
NM_001854.4(COL11A1):c.275-7T>C
|
rs12136865
|
0.14046
|
NM_000306.4(POU1F1):c.*139T>A
|
rs4988463
|
0.14040
|
NM_001079872.2(CUL4B):c.1174-20G>A
|
rs5957408
|
0.14035
|
NM_001024845.3(SLC6A9):c.807C>T (p.Asp269=)
|
rs2248829
|
0.13947
|
NM_025136.4(OPA3):c.*5523G>A
|
rs57585727
|
0.13908
|
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=)
|
rs6148
|
0.13882
|
NM_001161352.2(KCNMA1):c.*488C>A
|
rs2116830
|
0.13876
|
NM_001846.4(COL4A2):c.2903-12A>G
|
rs2296853
|
0.13866
|
NM_198578.4(LRRK2):c.*96T>C
|
rs66737902
|
0.13862
|
NM_015166.3(MLC1):c.-561G>A
|
rs4838883
|
0.13827
|
NM_001845.6(COL4A1):c.234+8C>T
|
rs9521650
|
0.13807
|
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_130384.3(ATRIP):c.*714T>C
|
rs3135941
|
0.13734
|
NM_004385.5(VCAN):c.*1601T>A
|
rs1050948
|
0.13706
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
NM_002618.4(PEX13):c.*1194G>A
|
rs75205376
|
0.13689
|
NM_002541.4(OGDH):c.2973G>A (p.Ala991=)
|
rs2070606
|
0.13683
|
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn)
|
rs77419724
|
0.13676
|
NM_000925.4(PDHB):c.935-146G>C
|
rs6445980
|
0.13601
|
NM_000487.6(ARSA):c.*741C>T
|
rs8142033
|
0.13503
|
NM_000153.4(GALC):c.195+34G>T
|
rs143228205
|
0.13486
|
NM_007375.4(TARDBP):c.-13+95C>T
|
rs11121681
|
0.13481
|
NM_007375.3(TARDBP):c.-122G>A
|
rs11121679
|
0.13475
|
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=)
|
rs650724
|
0.13448
|
NM_014363.6(SACS):c.171+6C>T
|
rs3751368
|
0.13441
|
NM_025136.4(OPA3):c.*638T>A
|
rs150575877
|
0.13416
|
NM_003334.4(UBA1):c.1340G>A (p.Arg447His)
|
rs2070169
|
0.13373
|
NM_014846.4(WASHC5):c.187-3C>T
|
rs16900368
|
0.13363
|
NM_015160.3(PMPCA):c.90C>T (p.Tyr30=)
|
rs10870144
|
0.13348
|
NM_005154.5(USP8):c.2215A>G (p.Thr739Ala)
|
rs11638390
|
0.13340
|
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
NM_004565.3(PEX14):c.1032G>T (p.Gly344=)
|
rs11539794
|
0.13336
|
NM_001382391.1(CSPP1):c.2392-17C>T
|
rs58448590
|
0.13329
|
NM_001165963.4(SCN1A):c.*1025T>C
|
rs10497275
|
0.13322
|
NM_001097577.3(ANG):c.330T>G (p.Gly110=)
|
rs11701
|
0.13321
|
NM_014846.4(WASHC5):c.417+11A>G
|
rs2384917
|
0.13320
|
NM_021815.5(SLC5A7):c.741+18C>T
|
rs3731684
|
0.13300
|
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=)
|
rs3798756
|
0.13297
|
NM_198994.3(TGM6):c.789G>A (p.Lys263=)
|
rs6114033
|
0.13293
|
NM_014846.4(WASHC5):c.-124-10G>T
|
rs16900369
|
0.13285
|
NM_001127178.3(PIGG):c.1373G>A (p.Arg458His)
|
rs13115344
|
0.13254
|
NM_019023.5(PRMT7):c.1638C>T (p.Asp546=)
|
rs61746794
|
0.13248
|
NM_000702.4(ATP1A2):c.2943-47C>G
|
rs17846717
|
0.13239
|
NM_000702.4(ATP1A2):c.2943-27G>C
|
rs17846718
|
0.13234
|
NM_019023.5(PRMT7):c.1276-18G>A
|
rs7190134
|
0.13231
|
NM_000081.4(LYST):c.153A>C (p.Gly51=)
|
rs11464
|
0.13219
|
NM_003070.5(SMARCA2):c.-5G>A
|
rs10964468
|
0.13219
|
NM_015166.4(MLC1):c.*1764G>T
|
rs41283489
|
0.13206
|
NM_000702.4(ATP1A2):c.3034+14C>T
|
rs41288127
|
0.13198
|
NM_152309.3(PIK3AP1):c.61G>A (p.Glu21Lys)
|
rs17112076
|
0.13165
|
NM_000096.4(CP):c.1632= (p.Glu544=)
|
rs701753
|
0.13148
|
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=)
|
rs34582040
|
0.13147
|
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu)
|
rs33917740
|
0.13145
|
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=)
|
rs2229697
|
0.13143
|
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)
|
rs28362581
|
0.13084
|
NM_015107.3(PHF8):c.2650-35C>G
|
rs7886772
|
0.13065
|
NM_001199753.2(CPT1C):c.1326C>T (p.Ala442=)
|
rs12978911
|
0.13050
|
NM_001378452.1(ITPR1):c.1151+5C>G
|
rs2306868
|
0.13045
|
NM_001288705.3(CSF1R):c.1626+7C>T
|
rs34928010
|
0.13020
|
NM_001365536.1(SCN9A):c.2105-15G>A
|
rs4525717
|
0.12980
|
NM_001379500.1(COL18A1):c.1981G>A (p.Val661Ile)
|
rs62000962
|
0.12931
|
NM_001378615.1(CC2D2A):c.2830-38G>T
|
rs35309200
|
0.12892
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12866
|
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)
|
rs2292954
|
0.12849
|
NM_001080397.3(SLC45A1):c.831G>C (p.Leu277=)
|
rs56125713
|
0.12841
|
NM_006493.4(CLN5):c.*292G>A
|
rs700363
|
0.12838
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_002778.4(PSAP):c.-4C>T
|
rs2070188
|
0.12811
|
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln)
|
rs12960
|
0.12801
|
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His)
|
rs16933182
|
0.12797
|
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_005120.3(MED12):c.2422+30C>T
|
rs2075790
|
0.12776
|
NM_014844.5(TECPR2):c.1869G>A (p.Gly623=)
|
rs45605932
|
0.12774
|
NM_021098.3(CACNA1H):c.937A>G (p.Met313Val)
|
rs36117280
|
0.12769
|
NM_003477.3(PDHX):c.-4C>G
|
rs3818401
|
0.12767
|
NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr)
|
rs4839469
|
0.12684
|
NM_001205293.3(CACNA1E):c.2577T>A (p.Asp859Glu)
|
rs35737760
|
0.12668
|
NM_021625.5(TRPV4):c.789T>C (p.Asp263=)
|
rs3742034
|
0.12664
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_001244008.2(KIF1A):c.*1694C>T
|
rs3732339
|
0.12633
|
NM_015443.4(KANSL1):c.*742G>A
|
rs7350928
|
0.12614
|
NM_001199753.2(CPT1C):c.645G>A (p.Ser215=)
|
rs12973248
|
0.12608
|
NM_001377265.1(MAPT):c.*1152G>C
|
rs1052594
|
0.12578
|
NM_004035.7(ACOX1):c.*4490A>G
|
rs7212287
|
0.12568
|
NM_145868.2(ANXA11):c.1087-26A>G
|
rs2304410
|
0.12544
|
NM_001379500.1(COL18A1):c.1290C>T (p.Asp430=)
|
rs1131101
|
0.12488
|
NM_001205293.3(CACNA1E):c.1056-8G>A
|
rs17743547
|
0.12468
|
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=)
|
rs1052551
|
0.12440
|
NM_004562.3(PRKN):c.*2021G>A
|
rs1122470
|
0.12415
|
NM_021076.4(NEFH):c.1200C>T (p.Ala400=)
|
rs165734
|
0.12411
|
NM_000702.4(ATP1A2):c.*686G>A
|
rs55843060
|
0.12407
|
NM_001379500.1(COL18A1):c.1428C>T (p.Phe476=)
|
rs2236467
|
0.12399
|
NM_152743.4(BRAT1):c.430+20A>G
|
rs34720091
|
0.12399
|
NM_000466.3(PEX1):c.-137T>C
|
rs12386601
|
0.12381
|
NM_001377265.1(MAPT):c.-18+124C>G
|
rs3744456
|
0.12381
|
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=)
|
rs71575926
|
0.12377
|
NM_152743.4(BRAT1):c.1931G>A (p.Arg644Gln)
|
rs4719553
|
0.12363
|
NM_004035.7(ACOX1):c.1729-31T>G
|
rs12051891
|
0.12344
|
NM_004035.7(ACOX1):c.*4444G>A
|
rs7207656
|
0.12341
|
NM_152743.4(BRAT1):c.1321+18G>A
|
rs62442586
|
0.12338
|
NM_001324418.2(ADAM22):c.2596+35T>C
|
rs2240467
|
0.12317
|
NM_024411.5(PDYN):c.*656T>C
|
rs10485703
|
0.12279
|
NM_020822.3(KCNT1):c.2944-19T>C
|
rs759060806
|
0.12219
|
NM_000030.3(AGXT):c.847-83G>T
|
rs11894759
|
0.12217
|
NM_001386140.1(MTTP):c.522T>C (p.Cys174=)
|
rs982424
|
0.12209
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=)
|
rs13288443
|
0.12157
|
NM_003070.5(SMARCA2):c.1347+16_1347+17insT
|
rs150124430
|
0.12134
|
NM_001365536.1(SCN9A):c.3481= (p.Trp1161=)
|
rs6746030
|
0.12070
|
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr)
|
rs4988496
|
0.12048
|
NM_000153.4(GALC):c.328+19T>A
|
rs74337989
|
0.12002
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_000368.5(TSC1):c.*4437G>A
|
rs11553763
|
0.11942
|
NM_020708.5(SLC12A5):c.280-45C>T
|
rs3746515
|
0.11932
|
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)
|
rs16016
|
0.11927
|
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
NM_000405.5(GM2A):c.*2849G>A
|
rs10076053
|
0.11816
|
NM_000288.4(PEX7):c.-56C>T
|
rs73777751
|
0.11791
|
NM_000487.6(ARSA):c.*340T>A
|
rs5741862
|
0.11788
|
NM_015166.4(MLC1):c.771+175T>C
|
rs2076132
|
0.11786
|
NM_153033.5(KCTD7):c.493+18_493+21dup
|
rs57580125
|
0.11765
|
NM_015166.4(MLC1):c.771+160T>C
|
rs2076133
|
0.11739
|
NM_015166.4(MLC1):c.771+59C>A
|
rs2076135
|
0.11739
|
NM_015166.4(MLC1):c.771+61T>C
|
rs2076134
|
0.11739
|
NM_015166.4(MLC1):c.772-35C>T
|
rs11568179
|
0.11738
|
NM_015166.4(MLC1):c.894+52T>C
|
rs5771349
|
0.11723
|
NM_015166.4(MLC1):c.894+199C>T
|
rs5771142
|
0.11704
|
NM_015166.4(MLC1):c.895-9C>T
|
rs11568185
|
0.11704
|
NM_015166.4(MLC1):c.895-23C>T
|
rs11568184
|
0.11703
|
NM_015166.4(MLC1):c.*991T>G
|
rs11704648
|
0.11696
|
NM_015166.4(MLC1):c.772-110A>G
|
rs111258391
|
0.11687
|
NM_002335.4(LRP5):c.1015+15C>T
|
rs201268200
|
0.11677
|
NM_004562.3(PRKN):c.*652C>T
|
rs71653629
|
0.11674
|
NM_000815.5(GABRD):c.1060-14C>T
|
rs28431879
|
0.11669
|
NM_000815.5(GABRD):c.816C>T (p.Ser272=)
|
rs28408173
|
0.11662
|
NM_001482.3(GATM):c.-30T>G
|
rs8024550
|
0.11642
|
NM_000726.5(CACNB4):c.*1185T>C
|
rs13410490
|
0.11625
|
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=)
|
rs7691
|
0.11555
|
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=)
|
rs4925112
|
0.11504
|
NM_003002.4(SDHD):c.315-32T>C
|
rs4151637
|
0.11444
|
NM_000153.4(GALC):c.753-59C>T
|
rs17687364
|
0.11436
|
NM_000153.4(GALC):c.196-70G>A
|
rs74689143
|
0.11432
|
NM_003002.4(SDHD):c.170-29A>G
|
rs9919624
|
0.11431
|
NM_000153.4(GALC):c.583-56G>A
|
rs79515863
|
0.11428
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
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_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_001242896.3(DEPDC5):c.1323A>C (p.Thr441=)
|
rs5998135
|
0.11421
|
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_004738.5(VAPB):c.*937G>C
|
rs1059794
|
0.11399
|
NM_001037333.3(CYFIP2):c.2079+9T>C
|
rs2289850
|
0.11382
|
NM_000153.4(GALC):c.329-35G>A
|
rs77466023
|
0.11380
|
NM_018718.3(CEP41):c.*3887C>G
|
rs62471754
|
0.11370
|
NM_000310.4(PPT1):c.*161T>C
|
rs11552578
|
0.11358
|
NM_004408.4(DNM1):c.312G>A (p.Glu104=)
|
rs2229917
|
0.11354
|
NM_004181.5(UCHL1):c.-24A>G
|
rs11556271
|
0.11322
|
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser)
|
rs17343819
|
0.11318
|
NM_014846.4(WASHC5):c.1764+12A>G
|
rs3765213
|
0.11313
|
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_198578.4(LRRK2):c.7155A>G (p.Gly2385=)
|
rs33962975
|
0.11278
|
NM_014324.6(AMACR):c.717G>T (p.Gln239His)
|
rs34677
|
0.11264
|
NM_004068.4(AP2M1):c.1185G>A (p.Ala395=)
|
rs2231224
|
0.11262
|
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser)
|
rs17082236
|
0.11250
|
NM_025136.4(OPA3):c.*4672G>A
|
rs11669246
|
0.11223
|
NM_025136.4(OPA3):c.*3212G>A
|
rs79317386
|
0.11204
|
NM_181575.5(AUP1):c.129C>G (p.Leu43=)
|
rs1183739
|
0.11203
|
NM_006030.4(CACNA2D2):c.663C>A (p.Ile221=)
|
rs56287038
|
0.11199
|
NM_020631.6(PLEKHG5):c.1801-12C>A
|
rs943584
|
0.11198
|
NM_004268.5(MED17):c.1092G>A (p.Pro364=)
|
rs34057693
|
0.11178
|
NM_001379500.1(COL18A1):c.2683+702G>A
|
rs114832456
|
0.11163
|
NM_017755.6(NSUN2):c.*99G>A
|
rs3776448
|
0.11157
|
NM_003659.4(AGPS):c.*4516_*4517del
|
rs3215354
|
0.11154
|
NM_001365088.1(SLC12A6):c.*2804C>T
|
rs59091709
|
0.11152
|
NM_015166.4(MLC1):c.597A>G (p.Ser199=)
|
rs6010164
|
0.11147
|
NM_015166.4(MLC1):c.594C>T (p.Tyr198=)
|
rs6010165
|
0.11145
|
NM_001365088.1(SLC12A6):c.*3525C>T
|
rs1133154
|
0.11134
|
NM_003719.5(PDE8B):c.*63C>T
|
rs62362531
|
0.11095
|
NM_000153.4(GALC):c.*1126G>A
|
rs1042035
|
0.11091
|
NM_001854.4(COL11A1):c.660T>C (p.Ile220=)
|
rs71664966
|
0.11088
|
NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=)
|
rs2229944
|
0.11079
|
NM_004035.7(ACOX1):c.*874C>T
|
rs12430
|
0.11066
|
NM_001182.4(ALDH7A1):c.-151C>T
|
rs900640
|
0.11028
|
NM_001958.5(EEF1A2):c.480G>A (p.Pro160=)
|
rs2274860
|
0.10978
|
NM_015100.4(POGZ):c.4104T>G (p.Thr1368=)
|
rs1571294
|
0.10973
|
NM_000108.5(DLD):c.*28G>T
|
rs17154615
|
0.10964
|
NM_024665.7(TBL1XR1):c.1416+25C>G
|
rs16827730
|
0.10956
|
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)
|
rs4784320
|
0.10935
|
NM_000081.4(LYST):c.2355T>C (p.Leu785=)
|
rs3768066
|
0.10928
|
NM_015166.4(MLC1):c.978C>T (p.Cys326=)
|
rs11568186
|
0.10918
|
NM_015166.4(MLC1):c.996T>C (p.Ser332=)
|
rs11568187
|
0.10904
|
NM_001145.4(ANG):c.-332C>A
|
rs28589501
|
0.10899
|
NM_198586.3(NHLRC1):c.312T>C (p.His104=)
|
rs115931931
|
0.10897
|
NM_145868.2(ANXA11):c.950-87C>G
|
rs34148644
|
0.10893
|
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=)
|
rs7063657
|
0.10892
|
NM_006459.4(ERLIN1):c.243-18T>C
|
rs3750707
|
0.10883
|
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
NM_145868.2(ANXA11):c.55+54G>A
|
rs75804987
|
0.10881
|
NM_145868.2(ANXA11):c.672T>C (p.Ile224=)
|
rs2228427
|
0.10871
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_000823.4(GHRHR):c.598-10T>C
|
rs35609199
|
0.10863
|
NM_145868.2(ANXA11):c.650-10C>G
|
rs34332933
|
0.10863
|
NM_001854.4(COL11A1):c.1998+4T>A
|
rs12136577
|
0.10860
|
NM_130837.3(OPA1):c.*2873A>T
|
rs10419
|
0.10858
|
NM_001351169.2(NT5C2):c.7A>G (p.Thr3Ala)
|
rs10883841
|
0.10846
|
NM_004738.5(VAPB):c.*4520T>C
|
rs763514
|
0.10837
|
NM_000748.3(CHRNB2):c.210+9A>G
|
rs3926124
|
0.10829
|
NM_001127649.3(PEX26):c.*1590G>A
|
rs5992169
|
0.10823
|
NM_003042.4(SLC6A1):c.1695+16C>G
|
rs35957531
|
0.10817
|
NM_138959.3(VANGL1):c.-224C>A
|
rs191609592
|
0.10807
|
NM_007118.4(TRIO):c.4020C>T (p.Ile1340=)
|
rs7715916
|
0.10797
|
NM_001127649.3(PEX26):c.*1669C>G
|
rs112015789
|
0.10796
|
NM_003000.3(SDHB):c.200+33G>A
|
rs2647169
|
0.10785
|
NM_015166.4(MLC1):c.*937C>T
|
rs41283491
|
0.10778
|
NM_021098.3(CACNA1H):c.2603+12C>T
|
rs2745150
|
0.10774
|
NM_001127649.3(PEX26):c.*917C>T
|
rs9605518
|
0.10773
|
NM_018723.4(RBFOX1):c.931-19A>G
|
rs2302213
|
0.10758
|
NM_007118.4(TRIO):c.3882-36C>G
|
rs11949756
|
0.10757
|
NM_001242896.3(DEPDC5):c.2170+11G>A
|
rs55645350
|
0.10718
|
NM_177924.5(ASAH1):c.79-3C>T
|
rs35513736
|
0.10703
|
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
|
rs3736228
|
0.10701
|
NM_001160372.4(TRAPPC9):c.2431+7G>A
|
rs11166964
|
0.10663
|
NM_001386140.1(MTTP):c.969T>C (p.Ala323=)
|
rs17533489
|
0.10642
|
NM_001365088.1(SLC12A6):c.*1846C>G
|
rs6495639
|
0.10640
|
NM_001776.6(ENTPD1):c.573+14A>G
|
rs3176886
|
0.10636
|
NM_138959.3(VANGL1):c.*6721A>G
|
rs17034249
|
0.10611
|
NM_138959.3(VANGL1):c.*2581G>A
|
rs3811008
|
0.10587
|
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val)
|
rs2228612
|
0.10575
|
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr)
|
rs28365054
|
0.10566
|
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=)
|
rs63750222
|
0.10563
|
NM_003383.5(VLDLR):c.*180G>A
|
rs3421
|
0.10555
|
NM_005506.4(SCARB2):c.424-43T>C
|
rs894248
|
0.10549
|
NM_153033.5(KCTD7):c.*3752C>G
|
rs73133851
|
0.10548
|
NM_002024.6(FMR1):c.414G>A (p.Arg138=)
|
rs25707
|
0.10515
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
NM_033305.2(VPS13A):c.-181G>A
|
rs117488726
|
0.10492
|
NM_003477.3(PDHX):c.798T>C (p.Pro266=)
|
rs61760973
|
0.10477
|
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=)
|
rs11145366
|
0.10477
|
NM_000702.4(ATP1A2):c.*1548C>T
|
rs56003400
|
0.10471
|
NM_033305.3(VPS13A):c.6379-27G>T
|
rs56156608
|
0.10471
|
NM_000702.4(ATP1A2):c.*1547G>T
|
rs55845795
|
0.10469
|
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile)
|
rs3744825
|
0.10462
|
NM_033305.3(VPS13A):c.2288+20T>C
|
rs12335955
|
0.10447
|
NM_014844.5(TECPR2):c.2760C>T (p.Ser920=)
|
rs17100923
|
0.10438
|
NM_021098.3(CACNA1H):c.5244+7G>A
|
rs2235634
|
0.10432
|
NM_007118.4(TRIO):c.3332-33C>T
|
rs10866507
|
0.10407
|
NM_001182.5(ALDH7A1):c.*548C>T
|
rs1060856
|
0.10394
|
NM_001288705.3(CSF1R):c.*310C>A
|
rs41497048
|
0.10361
|
NM_004168.4(SDHA):c.1170C>T (p.Phe390=)
|
rs35277230
|
0.10356
|
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)
|
rs2295190
|
0.10350
|
NM_144599.5(NIPA1):c.*2425A>G
|
rs12902722
|
0.10277
|
NM_004183.4(BEST1):c.219C>A (p.Ile73=)
|
rs1109748
|
0.10271
|
NM_000702.4(ATP1A2):c.2709+26G>A
|
rs12083034
|
0.10249
|
NM_018896.5(CACNA1G):c.6309C>T (p.Leu2103=)
|
rs2301835
|
0.10241
|
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=)
|
rs13418718
|
0.10215
|
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)
|
rs2275272
|
0.10214
|
NM_012216.4(MID2):c.180A>C (p.Ser60=)
|
rs2236083
|
0.10213
|
NM_006736.6(DNAJB2):c.446-8G>A
|
rs3821039
|
0.10187
|
NM_000021.4(PSEN1):c.*3632G>A
|
rs362393
|
0.10183
|
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=)
|
rs62639695
|
0.10172
|
NM_033409.4(SLC52A3):c.456C>T (p.Pro152=)
|
rs3746807
|
0.10172
|
NM_001365088.1(SLC12A6):c.1825-13C>T
|
rs74010036
|
0.10170
|
NM_001846.4(COL4A2):c.2048G>C (p.Gly683Ala)
|
rs3803230
|
0.10158
|
NM_005045.4(RELN):c.2989C>G (p.Leu997Val)
|
rs362691
|
0.10133
|
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr)
|
rs11669628
|
0.10133
|
NM_005076.5(CNTN2):c.2431+20C>A
|
rs4951165
|
0.10123
|
NM_145868.2(ANXA11):c.1276+80G>T
|
rs112550067
|
0.10122
|
NM_001127649.3(PEX26):c.-318A>G
|
rs62239019
|
0.10068
|
NM_001282531.3(ADNP):c.2568C>T (p.Val856=)
|
rs1062651
|
0.10055
|
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe)
|
rs6010260
|
0.10037
|
NM_015559.3(SETBP1):c.4000+10T>A
|
rs3786177
|
0.10035
|
NM_001205293.3(CACNA1E):c.750A>G (p.Ala250=)
|
rs17443123
|
0.10021
|
NM_001854.4(COL11A1):c.*105C>T
|
rs1031820
|
0.10018
|
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)
|
rs7308720
|
0.10004
|
NM_000288.4(PEX7):c.340-103A>G
|
rs2295592
|
0.10001
|
NM_173354.5(SIK1):c.1246-36T>C
|
rs2838302
|
0.09992
|
NM_001365088.1(SLC12A6):c.1591+102A>G
|
rs61549125
|
0.09991
|
NM_001365088.1(SLC12A6):c.1591+93C>G
|
rs56761496
|
0.09986
|
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=)
|
rs17188183
|
0.09972
|
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=)
|
rs9922076
|
0.09939
|
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)
|
rs11559205
|
0.09934
|
NM_015028.4(TNIK):c.2682C>T (p.Ser894=)
|
rs16855789
|
0.09929
|
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=)
|
rs2407083
|
0.09922
|
NM_015166.4(MLC1):c.*1836G>A
|
rs11703598
|
0.09905
|
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser)
|
rs2070739
|
0.09896
|
NM_031448.6(C19orf12):c.*2100G>T
|
rs74854677
|
0.09891
|
NM_173354.5(SIK1):c.274-28G>A
|
rs59151119
|
0.09888
|
NM_032108.4(SEMA6B):c.772-22G>A
|
rs45579944
|
0.09881
|
NM_033453.4(ITPA):c.124+21A>C
|
rs7270101
|
0.09874
|
NM_013275.6(ANKRD11):c.7128C>G (p.Asp2376Glu)
|
rs4785560
|
0.09807
|
NM_001492.6(GDF1):c.-422-11C>T
|
rs2075762
|
0.09802
|
NM_024306.5(FA2H):c.1039+8T>C
|
rs6564160
|
0.09790
|
NM_018122.5(DARS2):c.*210T>C
|
rs9425758
|
0.09751
|
NM_000726.5(CACNB4):c.*1186G>T
|
rs72868010
|
0.09750
|
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys)
|
rs41278952
|
0.09746
|
NM_001351169.2(NT5C2):c.*313C>G
|
rs10786736
|
0.09743
|
NM_000405.5(GM2A):c.*938G>A
|
rs1130163
|
0.09731
|
NM_153033.5(KCTD7):c.*2805C>T
|
rs1267818
|
0.09731
|
NM_173354.5(SIK1):c.337+35C>G
|
rs57684950
|
0.09708
|
NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser)
|
rs17769294
|
0.09705
|
NM_020708.5(SLC12A5):c.2361G>A (p.Thr787=)
|
rs17344810
|
0.09686
|
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg)
|
rs10930046
|
0.09666
|
NM_005045.4(RELN):c.1776A>G (p.Glu592=)
|
rs2072403
|
0.09661
|
NM_004385.5(VCAN):c.9379+7T>C
|
rs695103
|
0.09623
|
NM_182961.4(SYNE1):c.8177+9C>T
|
rs56877632
|
0.09596
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236
|
0.09556
|
NM_001365088.1(SLC12A6):c.1592-50A>G
|
rs17236791
|
0.09549
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438
|
0.09548
|
NM_015161.3(ARL6IP1):c.409-18T>C
|
rs71382566
|
0.09544
|
NM_001365088.1(SLC12A6):c.2042+85G>A
|
rs59209438
|
0.09524
|
NM_005993.5(TBCD):c.2853-44G>A
|
rs729123
|
0.09492
|
NM_001127649.3(PEX26):c.*1635G>C
|
rs361703
|
0.09478
|
NM_005154.5(USP8):c.1857T>C (p.Phe619=)
|
rs10220843
|
0.09465
|
NM_015166.4(MLC1):c.895-261A>G
|
rs8136173
|
0.09460
|
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=)
|
rs80335370
|
0.09454
|
NM_000487.6(ARSA):c.-345G>C
|
rs6151406
|
0.09453
|
NM_015192.4(PLCB1):c.1251-4T>G
|
rs2076689
|
0.09450
|
NM_182961.4(SYNE1):c.17202+24G>A
|
rs12662994
|
0.09437
|
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=)
|
rs75579703
|
0.09434
|
NM_001368809.2(AMPD2):c.91+180C>G
|
rs186745159
|
0.09427
|
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser)
|
rs11568188
|
0.09405
|
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=)
|
rs13046486
|
0.09402
|
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=)
|
rs2273506
|
0.09394
|
NM_001368809.2(AMPD2):c.-263+18T>C
|
rs28362580
|
0.09386
|
NM_014324.6(AMACR):c.247+20G>A
|
rs9282595
|
0.09385
|
NM_005993.5(TBCD):c.1475+25C>T
|
rs74530485
|
0.09372
|
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=)
|
rs35686634
|
0.09361
|
NM_001846.4(COL4A2):c.4617G>A (p.Ala1539=)
|
rs391859
|
0.09357
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_004082.5(DCTN1):c.3610-20C>G
|
rs2268427
|
0.09345
|
NM_015046.7(SETX):c.*2262A>G
|
rs997784
|
0.09345
|
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=)
|
rs55698160
|
0.09334
|
NM_000702.4(ATP1A2):c.177+95T>C
|
rs17846705
|
0.09326
|
NM_004595.5(SMS):c.866-32T>C
|
rs2071136
|
0.09321
|
NM_015046.7(SETX):c.6935+8T>C
|
rs17148873
|
0.09319
|
NM_015100.4(POGZ):c.2235-11T>C
|
rs2025899
|
0.09308
|
NM_018129.4(PNPO):c.*1883G>C
|
rs1986694
|
0.09285
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
NM_004738.5(VAPB):c.*1265G>C
|
rs7400
|
0.09272
|
NM_001282531.3(ADNP):c.2067C>T (p.Gly689=)
|
rs17790938
|
0.09265
|
NM_173354.5(SIK1):c.156+15T>C
|
rs56796001
|
0.09264
|
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=)
|
rs17846715
|
0.09246
|
NM_144599.5(NIPA1):c.*1563C>T
|
rs72698098
|
0.09246
|
NM_033343.4(LHX4):c.778+14G>T
|
rs3806302
|
0.09243
|
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val)
|
rs3746802
|
0.09243
|
NM_000081.4(LYST):c.4392C>T (p.Asn1464=)
|
rs11583387
|
0.09239
|
NM_000414.4(HSD17B4):c.2122-34C>T
|
rs28943593
|
0.09221
|
NM_015346.4(ZFYVE26):c.2692A>T (p.Thr898Ser)
|
rs17192170
|
0.09199
|
NM_006493.4(CLN5):c.*155C>T
|
rs700365
|
0.09182
|
NM_005629.4(SLC6A8):c.394+88G>A
|
rs6643763
|
0.09180
|
NM_012310.5(KIF4A):c.3073-4C>T
|
rs10482161
|
0.09171
|
NM_000033.4(ABCD1):c.-59C>T
|
rs4148030
|
0.09150
|
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)
|
rs2279720
|
0.09131
|
NM_020631.5(PLEKHG5):c.*1304G>A
|
rs45604837
|
0.09117
|
NM_000702.4(ATP1A2):c.382-85G>A
|
rs41265763
|
0.09102
|
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=)
|
rs2228440
|
0.09078
|
NM_001257180.2(SLC20A2):c.*570G>T
|
rs1803657
|
0.09069
|
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr)
|
rs1064204
|
0.09043
|
NM_021098.3(CACNA1H):c.4221G>A (p.Leu1407=)
|
rs61910714
|
0.09043
|
NM_001288705.3(CSF1R):c.*512T>C
|
rs13117
|
0.09042
|
NM_001044.5(SLC6A3):c.286+20C>G
|
rs8179023
|
0.09016
|
NM_005993.5(TBCD):c.28G>T (p.Gly10Cys)
|
rs11550062
|
0.09008
|
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)
|
rs1044499
|
0.09006
|
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala)
|
rs34507036
|
0.09001
|
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=)
|
rs7966550
|
0.08994
|
NM_001191061.2(SLC25A22):c.*906G>A
|
rs118051043
|
0.08987
|
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)
|
rs3817641
|
0.08986
|
NM_198241.3(EIF4G1):c.3325+16C>T
|
rs2293605
|
0.08976
|
NM_021098.3(CACNA1H):c.5721C>T (p.Gly1907=)
|
rs2738891
|
0.08967
|
NM_021098.3(CACNA1H):c.6179G>A (p.Arg2060His)
|
rs1054644
|
0.08945
|
NM_002103.5(GYS1):c.*725C>T
|
rs1042265
|
0.08927
|
NM_025136.4(OPA3):c.*2485G>A
|
rs8106584
|
0.08922
|
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=)
|
rs10964471
|
0.08917
|
NM_025136.4(OPA3):c.*3722G>A
|
rs73568973
|
0.08874
|
NM_000310.3(PPT1):c.-109C>A
|
rs41301070
|
0.08852
|
NM_000405.5(GM2A):c.*144T>C
|
rs9324686
|
0.08805
|
NM_000405.5(GM2A):c.*28C>T
|
rs9324685
|
0.08802
|
NM_001351169.2(NT5C2):c.1211+20C>A
|
rs17094683
|
0.08793
|
NM_014053.4(FLVCR1):c.*1940G>A
|
rs6697126
|
0.08778
|
NM_003334.4(UBA1):c.2220G>A (p.Pro740=)
|
rs2230147
|
0.08755
|
NM_003334.4(UBA1):c.1742-11G>C
|
rs5953010
|
0.08744
|
NM_000391.4(TPP1):c.687+32T>C
|
rs1800710
|
0.08743
|
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val)
|
rs1340989
|
0.08733
|
NM_015166.4(MLC1):c.771+158G>A
|
rs35480507
|
0.08730
|
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp)
|
rs2306986
|
0.08726
|
NM_173500.4(TTBK2):c.-8G>A
|
rs16957250
|
0.08720
|
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_004519.4(KCNQ3):c.*2137C>T
|
rs2272679
|
0.08712
|
NM_024921.4(POF1B):c.*1849G>A
|
rs73513629
|
0.08686
|
NM_000096.4(CP):c.394+20C>T
|
rs17847023
|
0.08668
|
NM_153033.5(KCTD7):c.267G>A (p.Thr89=)
|
rs3764904
|
0.08655
|
NM_014845.6(FIG4):c.*29G>A
|
rs10659
|
0.08648
|
NM_001371727.1(GABRB2):c.542-11T>C
|
rs10052441
|
0.08647
|
NM_001482.3(GATM):c.*913G>A
|
rs17618637
|
0.08643
|
NM_198586.3(NHLRC1):c.*621T>A
|
rs10949481
|
0.08640
|
NM_000484.4(APP):c.-111G>C
|
rs459543
|
0.08614
|
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln)
|
rs12514417
|
0.08598
|
NM_004380.3(CREBBP):c.939T>C (p.Asp313=)
|
rs3025702
|
0.08570
|
NM_000811.3(GABRA6):c.1210C>T (p.Pro404Ser)
|
rs34907804
|
0.08568
|
NM_002617.4(PEX10):c.913-4G>A
|
rs11586985
|
0.08566
|
NM_003384.3(VRK1):c.1159+43C>G
|
rs45457797
|
0.08564
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_017791.3(FLVCR2):c.-71C>T
|
rs11849590
|
0.08526
|
NM_003659.4(AGPS):c.1856-16G>T
|
rs3213945
|
0.08514
|
NM_001371928.1(AHDC1):c.1209C>T (p.Arg403=)
|
rs113173951
|
0.08484
|
NM_021625.5(TRPV4):c.795C>T (p.His265=)
|
rs1344554
|
0.08478
|
NM_001165963.4(SCN1A):c.*1961C>T
|
rs7577411
|
0.08473
|
NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg)
|
rs10079250
|
0.08472
|
NM_014053.4(FLVCR1):c.*353A>G
|
rs6679775
|
0.08452
|
NM_025219.3(DNAJC5):c.*1442A>G
|
rs61744085
|
0.08435
|
NM_001083614.2(EARS2):c.*2156T>G
|
rs13334957
|
0.08431
|
NM_033305.3(VPS13A):c.*565G>A
|
rs989391
|
0.08398
|
NM_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08387
|
NM_203446.3(SYNJ1):c.1201-3A>T
|
rs844988
|
0.08382
|
NM_001378969.1(KCND3):c.264C>T (p.Pro88=)
|
rs17221819
|
0.08351
|
NM_006612.6(KIF1C):c.1019+18A>G
|
rs72838331
|
0.08330
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_001846.4(COL4A2):c.912+9C>T
|
rs7983979
|
0.08329
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)
|
rs41314153
|
0.08321
|
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser)
|
rs3792683
|
0.08314
|
NM_004562.3(PRKN):c.*1296A>G
|
rs3734464
|
0.08312
|
NM_014844.5(TECPR2):c.1418-165G>A
|
rs67088231
|
0.08306
|
NM_025219.3(DNAJC5):c.*1648C>T
|
rs41278222
|
0.08304
|
NM_020919.4(ALS2):c.2796C>T (p.Ser932=)
|
rs3219161
|
0.08298
|
NM_025219.3(DNAJC5):c.*2711G>A
|
rs76291580
|
0.08294
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
NM_001386140.1(MTTP):c.*183C>T
|
rs74542928
|
0.08278
|
NM_001386140.1(MTTP):c.*862C>A
|
rs6832927
|
0.08274
|
NM_001386140.1(MTTP):c.*506A>G
|
rs6832119
|
0.08272
|
NM_025219.3(DNAJC5):c.*1106T>G
|
rs11554629
|
0.08271
|
NM_014324.6(AMACR):c.*227T>G
|
rs6863560
|
0.08265
|
NM_017777.4(MKS1):c.1024+128C>T
|
rs72839966
|
0.08242
|
NM_012310.5(KIF4A):c.3372+11G>T
|
rs5980934
|
0.08227
|
NM_024306.5(FA2H):c.933T>C (p.Tyr311=)
|
rs11554620
|
0.08207
|
NM_004408.4(DNM1):c.1062C>T (p.Tyr354=)
|
rs35048348
|
0.08186
|
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=)
|
rs3026160
|
0.08178
|
NM_025219.3(DNAJC5):c.*2701C>T
|
rs3206771
|
0.08172
|
NM_000021.4(PSEN1):c.*313C>A
|
rs362384
|
0.08161
|
NM_004168.4(SDHA):c.1908+15C>T
|
rs34504623
|
0.08152
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)
|
rs4593
|
0.08113
|
NM_003730.6(RNASET2):c.706C>T (p.Arg236Trp)
|
rs11159
|
0.08102
|
NM_001330260.2(SCN8A):c.4281+13A>G
|
rs9943809
|
0.08096
|
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val)
|
rs3733319
|
0.08088
|
NM_001371596.2(MFSD8):c.*533G>A
|
rs11940642
|
0.08086
|
NM_006261.5(PROP1):c.*123T>C
|
rs2233788
|
0.08086
|
NM_006493.4(CLN5):c.*33A>G
|
rs9573974
|
0.08077
|
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)
|
rs16006
|
0.08064
|
NM_006030.4(CACNA2D2):c.3291+10G>C
|
rs2239801
|
0.08041
|
NM_004380.3(CREBBP):c.1676+18A>T
|
rs130018
|
0.08039
|
NM_004738.5(VAPB):c.*2819A>G
|
rs74568509
|
0.08036
|
NM_000447.3(PSEN2):c.-43C>T
|
rs7961
|
0.08031
|
NM_021830.5(TWNK):c.*521C>G
|
rs11542131
|
0.08029
|
NM_006612.6(KIF1C):c.231T>C (p.Ile77=)
|
rs17707385
|
0.08025
|
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)
|
rs34775878
|
0.08024
|
NM_025243.4(SLC19A3):c.*1090G>A
|
rs78560894
|
0.08018
|
NM_001371928.1(AHDC1):c.465G>A (p.Pro155=)
|
rs112179924
|
0.08011
|
NM_001173990.3(TMEM216):c.-2G>T
|
rs7107543
|
0.08005
|
NM_025243.4(SLC19A3):c.*1996T>C
|
rs111409314
|
0.08003
|
NM_033305.3(VPS13A):c.2825-63T>G
|
rs17423029
|
0.07996
|
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=)
|
rs2305138
|
0.07960
|
NM_025243.4(SLC19A3):c.*203C>T
|
rs80307329
|
0.07960
|
NM_025243.4(SLC19A3):c.*1427T>C
|
rs12105610
|
0.07956
|
NM_025243.4(SLC19A3):c.*1000A>G
|
rs111467219
|
0.07952
|
NM_025243.4(SLC19A3):c.*1684A>G
|
rs12105737
|
0.07950
|
NM_025243.4(SLC19A3):c.*1813A>G
|
rs76100632
|
0.07950
|
NM_025243.4(SLC19A3):c.*1839G>A
|
rs74372767
|
0.07948
|
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
|
rs1266787
|
0.07947
|
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
|
rs73989521
|
0.07946
|
NM_025243.4(SLC19A3):c.*1974G>T
|
rs1134282
|
0.07946
|
NM_025243.4(SLC19A3):c.*2130T>C
|
rs114055204
|
0.07935
|
NM_025243.4(SLC19A3):c.*2132T>C
|
rs115320284
|
0.07932
|
NM_025243.4(SLC19A3):c.*1953G>A
|
rs113979210
|
0.07926
|
NM_025243.4(SLC19A3):c.*1963C>T
|
rs1134281
|
0.07914
|
NM_001854.4(COL11A1):c.3025-23A>T
|
rs55682104
|
0.07912
|
NM_025219.3(DNAJC5):c.321+20C>T
|
rs2295436
|
0.07912
|
NM_198994.3(TGM6):c.1093+5G>A
|
rs6137891
|
0.07885
|
NM_001351132.2(PEX5):c.-17+290T>A
|
rs113752912
|
0.07875
|
NM_014855.3(AP5Z1):c.512-7A>G
|
rs73305371
|
0.07873
|
NM_005359.6(SMAD4):c.*5535A>G
|
rs75712226
|
0.07867
|
NM_033305.3(VPS13A):c.7026+62A>G
|
rs17424248
|
0.07843
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=)
|
rs61749897
|
0.07832
|
NM_032581.4(HYCC1):c.*1354A>G
|
rs4599713
|
0.07832
|
NM_001044.5(SLC6A3):c.810C>T (p.Ala270=)
|
rs6348
|
0.07818
|
NM_003560.4(PLA2G6):c.209+16C>T
|
rs2267368
|
0.07814
|
NM_031448.6(C19orf12):c.*3463G>A
|
rs150123154
|
0.07814
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635
|
0.07812
|
NM_000466.3(PEX1):c.1804-28G>A
|
rs10236856
|
0.07802
|
NM_000466.3(PEX1):c.-53C>G
|
rs12386703
|
0.07798
|
NM_018941.4(CLN8):c.544-227A>G
|
rs3935479
|
0.07779
|
NM_033305.3(VPS13A):c.2428-50G>A
|
rs17063468
|
0.07779
|
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)
|
rs79980197
|
0.07777
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
NM_001414.3(EIF2B1):c.-144G>C
|
rs34827093
|
0.07765
|
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)
|
rs2302566
|
0.07763
|
NM_021098.3(CACNA1H):c.2604-19C>T
|
rs11646893
|
0.07745
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
NM_000748.3(CHRNB2):c.1338+14G>T
|
rs4845378
|
0.07732
|
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=)
|
rs17424026
|
0.07721
|
NM_025219.3(DNAJC5):c.322-10C>T
|
rs78457562
|
0.07717
|
NM_198904.4(GABRG2):c.315C>T (p.Asn105=)
|
rs11135176
|
0.07676
|
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)
|
rs61749698
|
0.07665
|
NM_005051.3(QARS1):c.399C>T (p.His133=)
|
rs5030795
|
0.07620
|
NM_198859.4(PRICKLE2):c.*2447G>A
|
rs56262708
|
0.07615
|
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=)
|
rs591040
|
0.07584
|
NM_020919.4(ALS2):c.*1004G>A
|
rs11300
|
0.07577
|
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)
|
rs9878928
|
0.07568
|
NM_014263.4(YME1L1):c.39A>G (p.Thr13=)
|
rs11538750
|
0.07544
|
NM_015046.7(SETX):c.3147C>T (p.His1049=)
|
rs3739921
|
0.07515
|
NM_000487.6(ARSA):c.*1570C>T
|
rs79823940
|
0.07507
|
NM_001386140.1(MTTP):c.39C>G (p.Ser13=)
|
rs7667001
|
0.07507
|
NM_021815.5(SLC5A7):c.265A>G (p.Ile89Val)
|
rs1013940
|
0.07497
|
NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys)
|
rs3751664
|
0.07491
|
NM_000487.6(ARSA):c.*1369C>T
|
rs76841085
|
0.07487
|
NM_003332.4(TYROBP):c.*25A>C
|
rs1802029
|
0.07474
|
NM_001414.4(EIF2B1):c.*731T>C
|
rs10846532
|
0.07470
|
NM_014365.3(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742
|
0.07444
|
NM_001414.4(EIF2B1):c.*665C>T
|
rs2707
|
0.07425
|
NM_152722.5(HEPACAM):c.*1206T>A
|
rs78859654
|
0.07422
|
NM_000156.6(GAMT):c.*146A>C
|
rs659455
|
0.07418
|
NM_003119.4(SPG7):c.1449+19G>A
|
rs79201073
|
0.07399
|
NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly)
|
rs3804769
|
0.07382
|
NM_024665.7(TBL1XR1):c.926-8C>T
|
rs77478951
|
0.07381
|
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=)
|
rs2230766
|
0.07370
|
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)
|
rs17029215
|
0.07361
|
NM_001386140.1(MTTP):c.933C>A (p.Thr311=)
|
rs17029213
|
0.07360
|
NM_001386140.1(MTTP):c.1769+9C>T
|
rs34734558
|
0.07357
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_033305.3(VPS13A):c.6379-7A>T
|
rs759586753
|
0.07351
|
NM_001257180.2(SLC20A2):c.*361A>G
|
rs3763510
|
0.07343
|
NM_032581.4(HYCC1):c.*198T>G
|
rs2286492
|
0.07342
|
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala)
|
rs3764340
|
0.07330
|
NM_006612.6(KIF1C):c.1938-4C>G
|
rs4790725
|
0.07329
|
NM_172107.4(KCNQ2):c.912C>T (p.Phe304=)
|
rs2297385
|
0.07323
|
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=)
|
rs7759963
|
0.07295
|
NM_017882.3(CLN6):c.*1015T>C
|
rs6494720
|
0.07280
|
NM_017882.3(CLN6):c.*690A>G
|
rs8033190
|
0.07262
|
NM_025243.4(SLC19A3):c.*1740G>C
|
rs12105323
|
0.07249
|
NM_015161.3(ARL6IP1):c.170+12A>T
|
rs17663173
|
0.07245
|
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp)
|
rs4988498
|
0.07235
|
NM_032581.4(HYCC1):c.*1969G>A
|
rs77738949
|
0.07214
|
NM_018941.4(CLN8):c.544-124T>C
|
rs12546965
|
0.07202
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
NM_003560.4(PLA2G6):c.87G>A (p.Val29=)
|
rs2267369
|
0.07176
|
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)
|
rs184087864
|
0.07175
|
NM_000170.3(GLDC):c.660C>T (p.Leu220=)
|
rs2228095
|
0.07130
|
NM_001379500.1(COL18A1):c.828G>A (p.Ala276=)
|
rs2230686
|
0.07106
|
NM_004722.4(AP4M1):c.812G>A (p.Arg271His)
|
rs41280968
|
0.07094
|
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)
|
rs17110944
|
0.07088
|
NM_015046.7(SETX):c.6546+32T>A
|
rs2296873
|
0.07069
|
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn)
|
rs28385621
|
0.07062
|
NM_001846.4(COL4A2):c.3634+4C>T
|
rs2274544
|
0.07052
|
NM_015192.4(PLCB1):c.1009+26C>G
|
rs2273189
|
0.07044
|
NM_001385875.1(ZFYVE27):c.*1379G>A
|
rs13389
|
0.07015
|
NM_001429.4(EP300):c.4026-17C>A
|
rs2294976
|
0.07014
|
NM_000405.5(GM2A):c.458T>C (p.Val153Ala)
|
rs61740602
|
0.07011
|
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=)
|
rs1801471
|
0.07011
|
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582
|
0.07010
|
NM_020631.6(PLEKHG5):c.43+13G>A
|
rs78593902
|
0.07001
|
NM_000925.4(PDHB):c.701-41G>A
|
rs4585221
|
0.06991
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_007055.4(POLR3A):c.3594+11A>C
|
rs10509396
|
0.06976
|
NM_130837.3(OPA1):c.*3027A>G
|
rs56329083
|
0.06966
|
NM_139318.5(KCNH5):c.2577= (p.Arg859=)
|
rs7161127
|
0.06956
|
NM_020365.5(EIF2B3):c.149-4A>G
|
rs72887005
|
0.06955
|
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=)
|
rs61739588
|
0.06946
|
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=)
|
rs11554400
|
0.06936
|
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser)
|
rs7247284
|
0.06918
|
NM_198586.3(NHLRC1):c.*336G>A
|
rs10949482
|
0.06918
|
NM_006261.5(PROP1):c.109+435G>A
|
rs73346254
|
0.06917
|
NM_004519.4(KCNQ3):c.*4125T>C
|
rs2163608
|
0.06913
|
NM_006397.3(RNASEH2A):c.550-11T>C
|
rs7247253
|
0.06913
|
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=)
|
rs41300169
|
0.06912
|
NM_006397.3(RNASEH2A):c.462G>A (p.Gln154=)
|
rs7257575
|
0.06903
|
NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=)
|
rs2228613
|
0.06881
|
NM_003793.4(CTSF):c.722-5C>T
|
rs78871927
|
0.06870
|
NM_020708.5(SLC12A5):c.357G>T (p.Arg119=)
|
rs77659338
|
0.06862
|
NM_001083614.2(EARS2):c.1488+34G>A
|
rs75133940
|
0.06846
|
NM_014855.3(AP5Z1):c.*45A>G
|
rs12154545
|
0.06846
|
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys)
|
rs59371099
|
0.06827
|
NM_000742.4(CHRNA2):c.-561A>T
|
rs111661898
|
0.06819
|
NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
NM_004035.7(ACOX1):c.1320T>C (p.Asp440=)
|
rs8065946
|
0.06791
|
NM_004035.7(ACOX1):c.*2771A>C
|
rs9915973
|
0.06790
|
NM_004385.5(VCAN):c.4569A>G (p.Thr1523=)
|
rs16900528
|
0.06757
|
NM_001365536.1(SCN9A):c.3802-4A>G
|
rs75230218
|
0.06754
|
NM_024306.5(FA2H):c.*281C>A
|
rs189104271
|
0.06734
|
NM_001909.5(CTSD):c.353-17C>T
|
rs7126177
|
0.06731
|
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=)
|
rs56224509
|
0.06724
|
NM_025219.3(DNAJC5):c.*1303C>T
|
rs41278214
|
0.06711
|
NM_001324418.2(ADAM22):c.1393-3T>C
|
rs3761806
|
0.06707
|
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)
|
rs12483377
|
0.06693
|
NM_025219.3(DNAJC5):c.*2725G>A
|
rs11554628
|
0.06691
|
NM_001099403.2(PRDM8):c.987G>T (p.Leu329=)
|
rs6831357
|
0.06687
|
NM_015046.7(SETX):c.*1365G>T
|
rs7875801
|
0.06684
|
NM_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)
|
rs149207258
|
0.06646
|
NM_000823.4(GHRHR):c.-45C>T
|
rs2302021
|
0.06644
|
NM_001352514.2(HLCS):c.*259T>C
|
rs73398122
|
0.06633
|
NM_182961.4(SYNE1):c.3306C>T (p.His1102=)
|
rs17082701
|
0.06632
|
NM_001931.5(DLAT):c.975+16G>T
|
rs539991
|
0.06626
|
NM_018122.5(DARS2):c.1750+19T>G
|
rs57068378
|
0.06626
|
NM_032856.5(WDR73):c.1001A>G (p.Asp334Gly)
|
rs72750868
|
0.06616
|
NM_145868.2(ANXA11):c.171+95A>G
|
rs2789689
|
0.06581
|
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=)
|
rs3734365
|
0.06565
|
NM_018319.4(TDP1):c.-21C>T
|
rs34348197
|
0.06559
|
NM_005027.4(PIK3R2):c.700= (p.Ser234=)
|
rs2241088
|
0.06557
|
NM_006516.4(SLC2A1):c.966C>T (p.Val322=)
|
rs2229680
|
0.06553
|
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys)
|
rs17853192
|
0.06550
|
NM_018129.4(PNPO):c.*352G>C
|
rs16949676
|
0.06547
|
NM_003719.5(PDE8B):c.*456A>G
|
rs16874261
|
0.06538
|
NM_152722.5(HEPACAM):c.*338C>A
|
rs75988347
|
0.06504
|
NM_004738.5(VAPB):c.*4446G>A
|
rs79623348
|
0.06497
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
NM_001199107.2(TBC1D24):c.*188C>T
|
rs62040717
|
0.06494
|
NM_152564.5(VPS13B):c.9331-2A>T
|
rs74485751
|
0.06492
|
NM_000170.3(GLDC):c.438G>A (p.Thr146=)
|
rs13289273
|
0.06458
|
NM_002778.4(PSAP):c.909+32G>T
|
rs41307569
|
0.06451
|
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met)
|
rs35655964
|
0.06422
|
NM_021728.4(OTX2):c.*10G>A
|
rs171978
|
0.06420
|
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)
|
rs3208406
|
0.06407
|
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=)
|
rs34460293
|
0.06381
|
NM_014855.3(AP5Z1):c.970-13C>T
|
rs73305376
|
0.06374
|
NM_001127649.3(PEX26):c.*1623G>T
|
rs114698763
|
0.06369
|
NM_032273.4(TMEM126A):c.-69T>A
|
rs17148285
|
0.06369
|
NM_018129.4(PNPO):c.552G>A (p.Leu184=)
|
rs4378657
|
0.06317
|
NM_000284.4(PDHA1):c.*614G>T
|
rs5955761
|
0.06313
|
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)
|
rs17851770
|
0.06310
|
NM_033305.3(VPS13A):c.7027-54A>G
|
rs72746022
|
0.06290
|
NM_002180.3(IGHMBP2):c.1418+18A>G
|
rs112575423
|
0.06280
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_138959.3(VANGL1):c.*3417C>T
|
rs76160883
|
0.06248
|
NM_173354.5(SIK1):c.749-49G>A
|
rs117253106
|
0.06248
|
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=)
|
rs13339237
|
0.06245
|
NM_138959.3(VANGL1):c.*2489C>T
|
rs41299571
|
0.06245
|
NM_001365088.1(SLC12A6):c.*2523C>T
|
rs191826889
|
0.06232
|
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val)
|
rs111277421
|
0.06224
|
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr)
|
rs74809741
|
0.06203
|
NM_025136.3(OPA3):c.-75G>A
|
rs45598532
|
0.06189
|
NM_033409.4(SLC52A3):c.645C>T (p.Pro215=)
|
rs6054605
|
0.06184
|
NM_001365088.1(SLC12A6):c.*824T>C
|
rs75307067
|
0.06174
|
NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr)
|
rs17857452
|
0.06173
|
NM_138959.3(VANGL1):c.*6321T>G
|
rs77318780
|
0.06169
|
NM_019023.5(PRMT7):c.1905C>T (p.Pro635=)
|
rs61733486
|
0.06161
|
NM_000287.4(PEX6):c.2364G>A (p.Val788=)
|
rs2274515
|
0.06152
|
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=)
|
rs60720055
|
0.06152
|
NM_003072.5(SMARCA4):c.1944-19G>T
|
rs74942410
|
0.06144
|
NM_022464.5(SIL1):c.-6C>G
|
rs11555154
|
0.06144
|
NM_000287.4(PEX6):c.*319C>T
|
rs736158
|
0.06143
|
NM_005591.4(MRE11):c.-106+5G>A
|
rs1805363
|
0.06142
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
NM_001909.5(CTSD):c.231C>T (p.Ala77=)
|
rs2230067
|
0.06127
|
NM_020247.5(COQ8A):c.*681G>A
|
rs10482
|
0.06118
|
NM_025219.3(DNAJC5):c.*2208C>T
|
rs11554631
|
0.06117
|
NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=)
|
rs61742863
|
0.06114
|
NM_000108.5(DLD):c.684+7G>A
|
rs75123588
|
0.06110
|
NM_006087.4(TUBB4A):c.*96C>G
|
rs449824
|
0.06110
|
NM_198586.3(NHLRC1):c.*626C>T
|
rs10949480
|
0.06100
|
NM_001199107.2(TBC1D24):c.-31T>C
|
rs13339105
|
0.06095
|
NM_002156.5(HSPD1):c.1140C>T (p.Val380=)
|
rs61736612
|
0.06094
|
NM_025136.4(OPA3):c.*577T>C
|
rs112654759
|
0.06094
|
NM_025136.4(OPA3):c.*3878A>G
|
rs79660166
|
0.06091
|
NM_025219.3(DNAJC5):c.*2601C>T
|
rs112103063
|
0.06085
|
NM_001191061.2(SLC25A22):c.-163-868T>C
|
rs111520133
|
0.06071
|
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys)
|
rs17183814
|
0.06063
|
NM_001085411.3(NADK2):c.258G>A (p.Arg86=)
|
rs6891700
|
0.06063
|
NM_024306.5(FA2H):c.*283G>C
|
rs80215625
|
0.06058
|
NM_000520.6(HEXA):c.806-48G>T
|
rs73440586
|
0.06050
|
NM_004960.4(FUS):c.190+9T>C
|
rs73530283
|
0.06048
|
NM_000520.6(HEXA):c.1074-43C>G
|
rs16956759
|
0.06040
|
NM_004960.3(FUS):c.*1803C>T
|
rs16956408
|
0.06040
|
NM_014855.3(AP5Z1):c.1377C>T (p.Asp459=)
|
rs17135128
|
0.06038
|
NM_002739.5(PRKCG):c.*428C>G
|
rs57483118
|
0.06034
|
NM_002693.3(POLG):c.1713-32C>T
|
rs3176190
|
0.06017
|
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val)
|
rs17082709
|
0.06016
|
NM_000284.4(PDHA1):c.*1598G>C
|
rs11094770
|
0.06012
|
NM_006015.6(ARID1A):c.3199-95A>G
|
rs76490152
|
0.06005
|
NM_001110792.2(MECP2):c.*1737G>A
|
rs3027922
|
0.06002
|
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val)
|
rs61740145
|
0.06002
|
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=)
|
rs79739740
|
0.05992
|
NM_000823.4(GHRHR):c.*221T>C
|
rs28371563
|
0.05985
|
NM_001037.5(SCN1B):c.*6-11C>G
|
rs28365105
|
0.05977
|
NM_001854.4(COL11A1):c.*1105C>T
|
rs12073619
|
0.05971
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_018319.4(TDP1):c.*1448G>A
|
rs34004710
|
0.05962
|
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=)
|
rs11175964
|
0.05959
|
NM_018319.4(TDP1):c.*1452C>T
|
rs34923595
|
0.05957
|
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=)
|
rs2413502
|
0.05955
|
NM_018319.4(TDP1):c.*1460C>G
|
rs35944390
|
0.05950
|
NM_031448.6(C19orf12):c.*3336C>T
|
rs10414583
|
0.05947
|
NM_018319.4(TDP1):c.1077A>G (p.Pro359=)
|
rs17126522
|
0.05945
|
NM_198904.4(GABRG2):c.-154C>T
|
rs3219203
|
0.05943
|
NM_001846.4(COL4A2):c.3455-5C>G
|
rs2296849
|
0.05942
|
NM_005045.4(RELN):c.6702T>C (p.Cys2234=)
|
rs2075043
|
0.05938
|
NM_000487.6(ARSA):c.459C>T (p.His153=)
|
rs6151412
|
0.05937
|
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=)
|
rs11570679
|
0.05937
|
NM_020821.3(VPS13C):c.3905A>G (p.Tyr1302Cys)
|
rs2303405
|
0.05935
|
NM_004738.5(VAPB):c.*4868C>T
|
rs74748993
|
0.05916
|
NM_004738.5(VAPB):c.*4052C>T
|
rs76295834
|
0.05914
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
NM_000081.4(LYST):c.2316C>T (p.Asp772=)
|
rs16832868
|
0.05899
|
NM_000081.4(LYST):c.5847G>C (p.Gln1949His)
|
rs6665568
|
0.05891
|
NM_000081.4(LYST):c.6630A>G (p.Glu2210=)
|
rs34466404
|
0.05877
|
NM_007055.4(POLR3A):c.2997G>T (p.Val999=)
|
rs12241228
|
0.05870
|
NM_004483.5(GCSH):c.159C>T (p.Phe53=)
|
rs8177876
|
0.05863
|
NM_001844.5(COL2A1):c.*136C>T
|
rs41272777
|
0.05859
|
NM_000817.3(GAD1):c.1595G>A (p.Arg532Gln)
|
rs769402
|
0.05855
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=)
|
rs1805028
|
0.05818
|
NM_006493.4(CLN5):c.173+18C>T
|
rs112141862
|
0.05807
|
NM_138959.3(VANGL1):c.*300C>T
|
rs41310108
|
0.05806
|
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=)
|
rs61421477
|
0.05793
|
NM_138959.3(VANGL1):c.*217C>T
|
rs41299565
|
0.05793
|
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=)
|
rs17340192
|
0.05788
|
NM_001379500.1(COL18A1):c.1950G>A (p.Pro650=)
|
rs61731167
|
0.05785
|
NM_033305.3(VPS13A):c.8553+31G>C
|
rs72746094
|
0.05781
|
NM_007262.5(PARK7):c.323-14A>G
|
rs72854882
|
0.05780
|
NM_000487.6(ARSA):c.1108-60C>T
|
rs873697
|
0.05763
|
NM_003730.6(RNASET2):c.21C>T (p.Arg7=)
|
rs12193095
|
0.05758
|
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)
|
rs56389778
|
0.05750
|
NM_000021.3(PSEN1):c.-296C>T
|
rs1800839
|
0.05747
|
NM_016373.4(WWOX):c.517-108230A>G
|
rs77067228
|
0.05744
|
NM_006015.6(ARID1A):c.2420-18G>C
|
rs34681611
|
0.05742
|
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=)
|
rs3138150
|
0.05741
|
NM_182961.4(SYNE1):c.19104+17A>G
|
rs17082389
|
0.05731
|
NM_004519.4(KCNQ3):c.*396A>G
|
rs78243592
|
0.05729
|
NM_001278116.2(L1CAM):c.2209-6C>T
|
rs7885771
|
0.05725
|
NM_138959.3(VANGL1):c.*694C>A
|
rs41312690
|
0.05722
|
NM_000021.4(PSEN1):c.*2864A>C
|
rs362389
|
0.05717
|
NM_001854.4(COL11A1):c.3168+15A>G
|
rs1012281
|
0.05717
|
NM_001127644.2(GABRA1):c.857-18T>C
|
rs78782356
|
0.05705
|
NM_033343.4(LHX4):c.452-5T>C
|
rs2764449
|
0.05703
|
NM_005573.4(LMNB1):c.*18C>T
|
rs2230151
|
0.05698
|
NM_001378452.1(ITPR1):c.*777C>T
|
rs41315884
|
0.05676
|
NM_006397.3(RNASEH2A):c.637+13G>A
|
rs73503453
|
0.05671
|
NM_015166.4(MLC1):c.1059+27A>G
|
rs114282486
|
0.05667
|
NM_024306.5(FA2H):c.*1131A>C
|
rs7189731
|
0.05665
|
NM_004268.5(MED17):c.516C>T (p.Thr172=)
|
rs7119915
|
0.05663
|
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=)
|
rs3761170
|
0.05661
|
NM_001378452.1(ITPR1):c.*847G>A
|
rs41304181
|
0.05655
|
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=)
|
rs17575754
|
0.05655
|
NM_015046.7(SETX):c.498+30T>C
|
rs11790312
|
0.05653
|
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile)
|
rs6149
|
0.05632
|
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu)
|
rs73314997
|
0.05622
|
NM_033305.3(VPS13A):c.8667+106A>G
|
rs17340234
|
0.05621
|
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)
|
rs6350
|
0.05616
|
NM_006859.4(LIAS):c.507A>G (p.Glu169=)
|
rs35086467
|
0.05609
|
NM_016302.4(CRBN):c.735T>C (p.Tyr245=)
|
rs17027638
|
0.05605
|
NM_006015.6(ARID1A):c.1351-22A>C
|
rs41303629
|
0.05601
|
NM_003119.4(SPG7):c.1663+13C>T
|
rs80324518
|
0.05587
|
NM_000726.5(CACNB4):c.762T>A (p.Ile254=)
|
rs61736804
|
0.05586
|
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser)
|
rs76625876
|
0.05582
|
NM_178138.6(LHX3):c.251+30G>A
|
rs75290716
|
0.05544
|
NM_025136.4(OPA3):c.*272G>A
|
rs7246349
|
0.05540
|
NM_004268.5(MED17):c.342T>C (p.Asp114=)
|
rs16919376
|
0.05535
|
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=)
|
rs17423984
|
0.05526
|
NM_033305.3(VPS13A):c.3508-51A>G
|
rs1317305
|
0.05518
|
NM_033305.3(VPS13A):c.3813-171C>G
|
rs17423381
|
0.05518
|
NM_000702.4(ATP1A2):c.*1280G>A
|
rs4656884
|
0.05514
|
NM_000310.4(PPT1):c.537-50G>A
|
rs77623018
|
0.05512
|
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822
|
0.05512
|
NM_020919.4(ALS2):c.*893C>T
|
rs3219174
|
0.05509
|
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=)
|
rs112471131
|
0.05506
|
NM_152722.5(HEPACAM):c.971A>G (p.Asn324Ser)
|
rs116102273
|
0.05505
|
NM_018075.5(ANO10):c.*432G>T
|
rs17075612
|
0.05474
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
NM_005573.4(LMNB1):c.-298G>T
|
rs111865788
|
0.05448
|
NM_004519.4(KCNQ3):c.*7131G>A
|
rs75865310
|
0.05438
|
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=)
|
rs3749830
|
0.05426
|
NM_025136.4(OPA3):c.*3531G>T
|
rs112899014
|
0.05413
|
NM_032776.3(JMJD1C):c.1771A>G (p.Met591Val)
|
rs41274072
|
0.05413
|
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=)
|
rs3751889
|
0.05412
|
NM_001844.5(COL2A1):c.4075-14C>G
|
rs12721425
|
0.05398
|
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile)
|
rs12721427
|
0.05396
|
NM_000414.4(HSD17B4):c.*260A>G
|
rs28943596
|
0.05395
|
NM_001776.6(ENTPD1):c.234G>C (p.Val78=)
|
rs61731067
|
0.05384
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr)
|
rs111677724
|
0.05376
|
NM_004385.5(VCAN):c.9630C>T (p.His3210=)
|
rs16900564
|
0.05374
|
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)
|
rs73675069
|
0.05347
|
NM_080628.3(TLDC2):c.*18-559G>A
|
rs8124728
|
0.05345
|
NM_000286.3(PEX12):c.-534C>T
|
rs2278950
|
0.05335
|
NM_004519.4(KCNQ3):c.*1050A>C
|
rs76720699
|
0.05328
|
NM_005076.5(CNTN2):c.3070G>A (p.Val1024Ile)
|
rs17416074
|
0.05322
|
NM_018319.4(TDP1):c.-224A>G
|
rs35439694
|
0.05316
|
NM_001909.5(CTSD):c.828-17G>A
|
rs78735768
|
0.05315
|
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=)
|
rs41272387
|
0.05313
|
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=)
|
rs41272389
|
0.05312
|
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)
|
rs6151415
|
0.05295
|
NM_003265.3(TLR3):c.1704C>T (p.Asn568=)
|
rs35111588
|
0.05287
|
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly)
|
rs61999302
|
0.05287
|
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn)
|
rs1801474
|
0.05277
|
NM_001134407.3(GRIN2A):c.*2803A>G
|
rs16966263
|
0.05252
|
NM_033305.3(VPS13A):c.1596-31C>T
|
rs72742601
|
0.05251
|
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly)
|
rs3751886
|
0.05247
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_004035.7(ACOX1):c.*633G>C
|
rs71382188
|
0.05233
|
NM_173354.5(SIK1):c.1455C>T (p.Thr485=)
|
rs28510483
|
0.05232
|
NM_003265.3(TLR3):c.2553C>T (p.Phe851=)
|
rs73873710
|
0.05231
|
NM_012310.5(KIF4A):c.987T>C (p.Tyr329=)
|
rs41305391
|
0.05231
|
NM_000726.5(CACNB4):c.*5029T>C
|
rs16830412
|
0.05230
|
NM_004181.5(UCHL1):c.45+6T>C
|
rs11556273
|
0.05228
|
NM_033305.3(VPS13A):c.883-16A>C
|
rs72742584
|
0.05222
|
NM_000153.4(GALC):c.*709A>C
|
rs45572135
|
0.05219
|
NM_153252.5(BRWD3):c.*2831C>T
|
rs3810676
|
0.05213
|
NM_173354.5(SIK1):c.2174C>T (p.Ala725Val)
|
rs35596465
|
0.05170
|
NM_001844.5(COL2A1):c.2094+7A>G
|
rs17801742
|
0.05167
|
NM_031448.6(C19orf12):c.*1145G>A
|
rs62105840
|
0.05157
|
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=)
|
rs58889246
|
0.05156
|
NM_001244008.2(KIF1A):c.*1187C>T
|
rs3732342
|
0.05154
|
NM_000096.4(CP):c.782-14C>T
|
rs34067682
|
0.05131
|
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)
|
rs41317939
|
0.05124
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_002617.4(PEX10):c.279C>T (p.Gly93=)
|
rs1143016
|
0.05120
|
NM_006267.5(RANBP2):c.4443A>G (p.Gly1481=)
|
rs61748149
|
0.05119
|
NM_005076.5(CNTN2):c.297C>T (p.Asn99=)
|
rs9787172
|
0.05116
|
NM_003477.3(PDHX):c.*173G>A
|
rs75863418
|
0.05112
|
NM_025136.4(OPA3):c.*3038G>A
|
rs73568982
|
0.05112
|
NM_003477.3(PDHX):c.*200T>C
|
rs16926653
|
0.05109
|
NM_000310.4(PPT1):c.434-90G>C
|
rs6689837
|
0.05108
|
NM_001099403.2(PRDM8):c.762C>T (p.Ser254=)
|
rs142234659
|
0.05105
|
NM_003477.3(PDHX):c.339C>T (p.Ile113=)
|
rs34582941
|
0.05105
|
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile)
|
rs35591210
|
0.05093
|
NM_020708.5(SLC12A5):c.1512G>A (p.Thr504=)
|
rs41282782
|
0.05088
|
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=)
|
rs58905396
|
0.05078
|
NM_004385.5(VCAN):c.9033C>A (p.Asn3011Lys)
|
rs16900532
|
0.05068
|
NM_006612.6(KIF1C):c.1937+11G>T
|
rs346826
|
0.05064
|
NM_016169.4(SUFU):c.-178C>T
|
rs113962600
|
0.05045
|
NM_032581.4(HYCC1):c.*2976G>T
|
rs17725943
|
0.05040
|
NM_007262.5(PARK7):c.-70C>T
|
rs11121064
|
0.05022
|
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln)
|
rs11772411
|
0.05021
|
NM_032581.4(HYCC1):c.*2459C>A
|
rs79265521
|
0.05021
|
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=)
|
rs3027883
|
0.05020
|
NM_020435.4(GJC2):c.966G>C (p.Ala322=)
|
rs4653910
|
0.05014
|
NM_153252.5(BRWD3):c.*4223C>T
|
rs184070793
|
0.05012
|
NM_003477.3(PDHX):c.241+3G>A
|
rs78878052
|
0.04995
|
NM_003477.3(PDHX):c.*890T>C
|
rs1049333
|
0.04989
|
NM_014855.3(AP5Z1):c.1131C>T (p.His377=)
|
rs11768079
|
0.04978
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_001386140.1(MTTP):c.285G>C (p.Gln95His)
|
rs61733139
|
0.04959
|
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=)
|
rs71646895
|
0.04951
|
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)
|
rs17679445
|
0.04944
|
NM_006493.4(CLN5):c.*1279G>C
|
rs9635010
|
0.04936
|
NM_021072.4(HCN1):c.1783+7dup
|
rs56154381
|
0.04936
|
NM_015272.5(RPGRIP1L):c.530-29G>A
|
rs74393433
|
0.04932
|
NM_182961.4(SYNE1):c.10145+12T>C
|
rs112401775
|
0.04924
|
NM_001024845.3(SLC6A9):c.1435+18C>T
|
rs76038188
|
0.04923
|
NM_000520.6(HEXA):c.570+57G>A
|
rs12440768
|
0.04919
|
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065
|
0.04917
|
NM_021098.3(CACNA1H):c.5418G>C (p.Thr1806=)
|
rs57135930
|
0.04916
|
NM_032581.4(HYCC1):c.414+19C>T
|
rs11972002
|
0.04914
|
NM_153252.5(BRWD3):c.*5461T>G
|
rs41306245
|
0.04912
|
NM_021098.3(CACNA1H):c.6013C>T (p.Arg2005Cys)
|
rs72552056
|
0.04911
|
NM_001958.5(EEF1A2):c.1029+12C>T
|
rs45510898
|
0.04910
|
NM_006267.5(RANBP2):c.9585C>T (p.Gly3195=)
|
rs10185197
|
0.04909
|
NM_000823.4(GHRHR):c.366+13T>G
|
rs4988499
|
0.04905
|
NM_006516.4(SLC2A1):c.*1213G>T
|
rs55728431
|
0.04893
|
NM_000726.5(CACNB4):c.*890G>C
|
rs78697588
|
0.04885
|
NM_002137.4(HNRNPA2B1):c.519A>G (p.Arg173=)
|
rs34317198
|
0.04885
|
NM_001854.4(COL11A1):c.*301A>G
|
rs12731575
|
0.04880
|
NM_005506.4(SCARB2):c.48G>C (p.Leu16=)
|
rs72857097
|
0.04875
|
NM_002693.3(POLG):c.660-46G>A
|
rs2307430
|
0.04873
|
NM_001365536.1(SCN9A):c.688+13T>C
|
rs74449889
|
0.04864
|
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)
|
rs17409162
|
0.04859
|
NM_001394067.2(RAPGEF2):c.282-12C>A
|
rs77229150
|
0.04853
|
NM_005334.3(HCFC1):c.1085-12G>A
|
rs3027893
|
0.04847
|
NM_001199107.2(TBC1D24):c.*3715C>T
|
rs55778555
|
0.04830
|
NM_031448.6(C19orf12):c.*2662C>T
|
rs78094750
|
0.04826
|
NM_003690.5(PRKRA):c.549T>C (p.Asn183=)
|
rs61746229
|
0.04819
|
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)
|
rs62088470
|
0.04801
|
NM_000823.4(GHRHR):c.564C>T (p.His188=)
|
rs740336
|
0.04789
|
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=)
|
rs10964470
|
0.04780
|
NM_020708.5(SLC12A5):c.1150C>G (p.Pro384Ala)
|
rs16985442
|
0.04777
|
NM_000345.4(SNCA):c.*501C>T
|
rs17016074
|
0.04776
|
NM_005076.5(CNTN2):c.486A>C (p.Pro162=)
|
rs114050151
|
0.04775
|
NM_020708.5(SLC12A5):c.482-19T>C
|
rs77623489
|
0.04769
|
NM_002087.4(GRN):c.835+7G>A
|
rs72824736
|
0.04753
|
NM_001378452.1(ITPR1):c.1412+11C>T
|
rs7632000
|
0.04752
|
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901
|
0.04745
|
NM_013275.6(ANKRD11):c.6067G>C (p.Ala2023Pro)
|
rs60520302
|
0.04744
|
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val)
|
rs3742884
|
0.04741
|
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala)
|
rs17038460
|
0.04732
|
NM_003924.4(PHOX2B):c.*1662A>T
|
rs1063611
|
0.04731
|
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)
|
rs3742885
|
0.04730
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_198578.4(LRRK2):c.2167A>G (p.Ile723Val)
|
rs10878307
|
0.04677
|
NM_021098.3(CACNA1H):c.5778G>A (p.Ser1926=)
|
rs60526088
|
0.04674
|
NM_001844.5(COL2A1):c.2094+12G>C
|
rs17122510
|
0.04673
|
NM_018834.6(MATR3):c.*1259G>C
|
rs62381613
|
0.04668
|
NM_001352514.2(HLCS):c.*521C>T
|
rs9967991
|
0.04663
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_018325.5(C9orf72):c.*248T>C
|
rs73440933
|
0.04662
|
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)
|
rs9406386
|
0.04659
|
NM_006267.5(RANBP2):c.72+11C>G
|
rs113447280
|
0.04653
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=)
|
rs112813367
|
0.04637
|
NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr)
|
rs3738136
|
0.04637
|
NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
|
rs17113613
|
0.04615
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_005022.4(PFN1):c.334C>T (p.Leu112=)
|
rs13204
|
0.04611
|
NM_001244008.2(KIF1A):c.4319-8C>T
|
rs1529663
|
0.04602
|
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=)
|
rs28997582
|
0.04598
|
NM_018319.4(TDP1):c.-177C>T
|
rs35132667
|
0.04596
|
NM_021098.3(CACNA1H):c.4023G>A (p.Ala1341=)
|
rs28365124
|
0.04584
|
NM_024989.4(PGAP1):c.1862-3C>T
|
rs73988069
|
0.04584
|
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu)
|
rs111250109
|
0.04561
|
NM_001244008.2(KIF1A):c.*3038T>A
|
rs116352370
|
0.04560
|
NM_016955.4(SEPSECS):c.1211+7A>G
|
rs17408685
|
0.04557
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
NM_005045.4(RELN):c.8136A>G (p.Leu2712=)
|
rs3808039
|
0.04529
|
NM_153252.5(BRWD3):c.*1372T>A
|
rs41300257
|
0.04529
|
NM_001385875.1(ZFYVE27):c.456-12C>T
|
rs12264401
|
0.04525
|
NM_005359.6(SMAD4):c.*6423G>C
|
rs2282544
|
0.04514
|
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)
|
rs11553595
|
0.04510
|
NM_014946.4(SPAST):c.*98A>G
|
rs56272862
|
0.04503
|
NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=)
|
rs60199637
|
0.04502
|
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=)
|
rs76517176
|
0.04500
|
NM_000487.6(ARSA):c.*1746G>A
|
rs73172277
|
0.04494
|
NM_004268.5(MED17):c.1548T>C (p.Tyr516=)
|
rs16919389
|
0.04492
|
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=)
|
rs74693100
|
0.04490
|
NM_025136.3(OPA3):c.-86G>A
|
rs73570932
|
0.04481
|
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=)
|
rs7049247
|
0.04476
|
NM_014855.3(AP5Z1):c.1939-9C>T
|
rs73305392
|
0.04460
|
NM_004113.6(FGF12):c.229-7C>T
|
rs79608878
|
0.04458
|
NM_025136.4(OPA3):c.*1387C>T
|
rs73568986
|
0.04457
|
NM_001160148.2(DDHD1):c.317G>C (p.Gly106Ala)
|
rs117525276
|
0.04439
|
NM_006279.5(ST3GAL3):c.892-9G>A
|
rs80055718
|
0.04438
|
NM_152743.4(BRAT1):c.1923G>A (p.Ala641=)
|
rs2917726
|
0.04425
|
NM_002857.4(PEX19):c.*2353G>T
|
rs9853
|
0.04407
|
NM_021098.3(CACNA1H):c.5612G>A (p.Arg1871Gln)
|
rs58124832
|
0.04404
|
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)
|
rs58022607
|
0.04393
|
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=)
|
rs6143
|
0.04393
|
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=)
|
rs58465962
|
0.04390
|
NM_000153.4(GALC):c.1620= (p.Thr540=)
|
rs367327
|
0.04389
|
NM_000081.4(LYST):c.574T>G (p.Leu192Val)
|
rs7524261
|
0.04386
|
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=)
|
rs17122498
|
0.04377
|
NM_000311.5(PRNP):c.351A>G (p.Ala117=)
|
rs8124214
|
0.04369
|
NM_015192.4(PLCB1):c.99+8T>C
|
rs6086350
|
0.04369
|
NM_005027.4(PIK3R2):c.937= (p.Ser313=)
|
rs1011320
|
0.04360
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_000108.5(DLD):c.1351C>T (p.Leu451=)
|
rs1803921
|
0.04354
|
NM_025233.7(COASY):c.1486-5C>G
|
rs74886553
|
0.04354
|
NM_000744.7(CHRNA4):c.1758+11C>T
|
rs45442394
|
0.04350
|
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=)
|
rs34315566
|
0.04350
|
NM_000520.6(HEXA):c.1331-46G>A
|
rs2303448
|
0.04341
|
NM_153033.5(KCTD7):c.*2080A>G
|
rs73702140
|
0.04327
|
NM_015046.7(SETX):c.*717T>C
|
rs17148857
|
0.04316
|
NM_000391.4(TPP1):c.441A>G (p.Glu147=)
|
rs2555170
|
0.04313
|
NM_001958.5(EEF1A2):c.1326G>A (p.Glu442=)
|
rs1042796
|
0.04304
|
NM_025136.4(OPA3):c.*7015G>A
|
rs112948303
|
0.04300
|
NM_004565.3(PEX14):c.1014C>T (p.Asp338=)
|
rs2128414
|
0.04291
|
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)
|
rs1800205
|
0.04289
|
NM_025000.4(DCAF17):c.939G>A (p.Gln313=)
|
rs61731491
|
0.04289
|
NM_001378615.1(CC2D2A):c.777C>T (p.His259=)
|
rs2286976
|
0.04284
|
NM_000288.4(PEX7):c.803+105A>C
|
rs72985582
|
0.04283
|
NM_003924.4(PHOX2B):c.*1347A>G
|
rs62412180
|
0.04283
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)
|
rs2287779
|
0.04224
|
NM_000096.4(CP):c.1950A>C (p.Gly650=)
|
rs1053709
|
0.04222
|
NM_152743.4(BRAT1):c.1988G>A (p.Gly663Asp)
|
rs61627394
|
0.04216
|
NM_015166.4(MLC1):c.*1963C>G
|
rs41283487
|
0.04214
|
NM_005045.4(RELN):c.4588+14T>C
|
rs362810
|
0.04203
|
NM_001371279.1(REEP1):c.*1257C>T
|
rs12328643
|
0.04200
|
NM_025000.4(DCAF17):c.*2473G>A
|
rs57999878
|
0.04194
|
NM_171998.4(RAB39B):c.*1347C>T
|
rs17052027
|
0.04193
|
NM_002047.4(GARS1):c.1833T>C (p.Val611=)
|
rs14270
|
0.04182
|
NM_145868.2(ANXA11):c.572G>A (p.Arg191Gln)
|
rs2229554
|
0.04181
|
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)
|
rs11553502
|
0.04180
|
NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro)
|
rs72554624
|
0.04177
|
NM_004820.5(CYP7B1):c.*529A>G
|
rs113473170
|
0.04173
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657
|
0.04171
|
NM_001447.3(FAT2):c.10350G>A (p.Leu3450=)
|
rs36092108
|
0.04171
|
NM_014844.5(TECPR2):c.1614A>G (p.Pro538=)
|
rs17791240
|
0.04164
|
NM_001110556.2(FLNA):c.374-19G>A
|
rs2070817
|
0.04163
|
NM_198859.4(PRICKLE2):c.*1589G>A
|
rs62249882
|
0.04161
|
NM_002222.6(ITPR1):c.*1385A>G
|
rs9875113
|
0.04159
|
NM_001029896.2(WDR45):c.235+18G>T
|
rs55727094
|
0.04158
|
NM_007262.5(PARK7):c.-22C>T
|
rs11548933
|
0.04157
|
NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser)
|
rs2273906
|
0.04157
|
NM_000466.3(PEX1):c.358-11G>C
|
rs113104510
|
0.04153
|
NM_020247.5(COQ8A):c.255T>G (p.His85Gln)
|
rs2297411
|
0.04148
|
NM_005591.4(MRE11):c.*511G>A
|
rs13447749
|
0.04146
|
NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=)
|
rs61741725
|
0.04130
|
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=)
|
rs9105
|
0.04127
|
NM_001429.4(EP300):c.2380-15T>C
|
rs17002316
|
0.04125
|
NM_000045.4(ARG1):c.270C>T (p.Asn90=)
|
rs34504481
|
0.04124
|
NM_000817.3(GAD1):c.1450C>T (p.Leu484=)
|
rs769392
|
0.04124
|
NM_005051.3(QARS1):c.854A>G (p.Asn285Ser)
|
rs11539148
|
0.04122
|
NM_022089.4(ATP13A2):c.*124C>T
|
rs15786
|
0.04122
|
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=)
|
rs13429423
|
0.04117
|
NM_014324.6(AMACR):c.*617G>T
|
rs12659370
|
0.04114
|
NM_014844.5(TECPR2):c.1156G>A (p.Ala386Thr)
|
rs11845676
|
0.04113
|
NM_000368.5(TSC1):c.*2651G>T
|
rs55660990
|
0.04112
|
NM_033343.4(LHX4):c.450C>T (p.Asn150=)
|
rs16855642
|
0.04109
|
NM_000742.4(CHRNA2):c.*1003G>A
|
rs74974243
|
0.04107
|
NM_001099403.2(PRDM8):c.1726C>T (p.Leu576=)
|
rs28405693
|
0.04102
|
NM_001044.5(SLC6A3):c.150G>T (p.Pro50=)
|
rs6346
|
0.04096
|
NM_001429.4(EP300):c.95-16T>C
|
rs5758235
|
0.04095
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_000414.4(HSD17B4):c.739+23T>C
|
rs6895345
|
0.04079
|
NM_005045.4(RELN):c.1596G>A (p.Gln532=)
|
rs41276154
|
0.04078
|
NM_001429.4(EP300):c.1168+18G>A
|
rs3818120
|
0.04073
|
NM_014845.6(FIG4):c.67-7T>C
|
rs56378532
|
0.04073
|
NM_002739.5(PRKCG):c.*596C>T
|
rs60891969
|
0.04062
|
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)
|
rs61732502
|
0.04059
|
NM_004562.3(PRKN):c.*2492A>G
|
rs117341007
|
0.04051
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_033629.6(TREX1):c.912G>A (p.Leu304=)
|
rs3135945
|
0.04049
|
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=)
|
rs9383987
|
0.04048
|
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp)
|
rs35333195
|
0.04044
|
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
|
rs56290406
|
0.04044
|
NM_001378452.1(ITPR1):c.1412+13G>A
|
rs11920643
|
0.04035
|
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala)
|
rs74641549
|
0.04030
|
NM_001110792.2(MECP2):c.414-109A>G
|
rs3850326
|
0.04029
|
NM_001429.4(EP300):c.3348G>A (p.Gln1116=)
|
rs20554
|
0.04022
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_001191061.2(SLC25A22):c.*1153C>T
|
rs17156064
|
0.04015
|
NM_000487.6(ARSA):c.1149C>T (p.Asp383=)
|
rs6151425
|
0.04013
|
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val)
|
rs73400312
|
0.04004
|
NM_015192.4(PLCB1):c.-170C>A
|
rs139962835
|
0.04003
|
NM_001134407.3(GRIN2A):c.*6906T>G
|
rs17791953
|
0.03996
|
NM_005591.3(MRE11):c.-178G>A
|
rs1805360
|
0.03996
|
NM_015046.7(SETX):c.*1700G>T
|
rs75682594
|
0.03993
|
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)
|
rs112787369
|
0.03993
|
NM_032193.4(RNASEH2C):c.*1776C>T
|
rs4645936
|
0.03991
|
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=)
|
rs77117049
|
0.03987
|
NM_000454.4(SOD1):c.-109A>G
|
rs7277748
|
0.03982
|
NM_198994.3(TGM6):c.477C>T (p.Ser159=)
|
rs16984872
|
0.03978
|
NM_001165963.4(SCN1A):c.*1693A>G
|
rs7591522
|
0.03977
|
NM_004385.5(VCAN):c.*730A>G
|
rs8061
|
0.03976
|
NM_025243.4(SLC19A3):c.-2-10A>G
|
rs6728344
|
0.03969
|
NM_001165963.4(SCN1A):c.4002+1985C>T
|
rs59010534
|
0.03965
|
NM_001386140.1(MTTP):c.1769+14C>T
|
rs41275713
|
0.03960
|
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)
|
rs17599091
|
0.03958
|
NM_145868.2(ANXA11):c.1181-5C>T
|
rs75810295
|
0.03958
|
NM_004483.5(GCSH):c.252T>C (p.Tyr84=)
|
rs8177907
|
0.03948
|
NM_004483.5(GCSH):c.261C>G (p.Leu87=)
|
rs8177908
|
0.03948
|
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr)
|
rs149081991
|
0.03942
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)
|
rs36117895
|
0.03931
|
NM_004183.4(BEST1):c.696C>A (p.Ile232=)
|
rs1805140
|
0.03928
|
NM_000156.6(GAMT):c.571-6G>A
|
rs2074899
|
0.03927
|
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro)
|
rs62534884
|
0.03925
|
NM_018834.6(MATR3):c.*177A>G
|
rs13698
|
0.03913
|
NM_002541.4(OGDH):c.3052G>A (p.Val1018Ile)
|
rs2070607
|
0.03912
|
NM_000521.4(HEXB):c.-175G>A
|
rs73117116
|
0.03911
|
NM_130384.3(ATRIP):c.*2083T>C
|
rs3135946
|
0.03909
|
NM_024665.7(TBL1XR1):c.59-13C>G
|
rs78281312
|
0.03907
|
NM_144599.5(NIPA1):c.*3702C>T
|
rs3812923
|
0.03905
|
NM_013275.6(ANKRD11):c.893-92C>T
|
rs72803305
|
0.03881
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078
|
0.03877
|
NM_173354.5(SIK1):c.948C>T (p.Gly316=)
|
rs17004546
|
0.03875
|
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=)
|
rs11568305
|
0.03866
|
NM_003072.5(SMARCA4):c.356-14A>G
|
rs111447132
|
0.03865
|
NM_014855.3(AP5Z1):c.*659G>A
|
rs140612456
|
0.03865
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_001242896.3(DEPDC5):c.1472G>C (p.Ser491Thr)
|
rs8138516
|
0.03859
|
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met)
|
rs13420401
|
0.03855
|
NM_003119.4(SPG7):c.*33C>T
|
rs60711430
|
0.03853
|
NM_001165963.4(SCN1A):c.2176+17A>G
|
rs59251406
|
0.03846
|
NM_003334.4(UBA1):c.1742-18G>A
|
rs5953009
|
0.03846
|
NM_019597.5(HNRNPH2):c.1320C>T (p.Asn440=)
|
rs3027574
|
0.03836
|
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)
|
rs63750072
|
0.03830
|
NM_002541.4(OGDH):c.345A>G (p.Glu115=)
|
rs11557280
|
0.03827
|
NM_005573.4(LMNB1):c.1560G>A (p.Ser520=)
|
rs6875053
|
0.03827
|
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=)
|
rs73626656
|
0.03822
|
NM_002541.4(OGDH):c.2988C>T (p.Thr996=)
|
rs61756583
|
0.03821
|
NM_004562.3(PRKN):c.*320C>A
|
rs71653628
|
0.03819
|
NM_014946.4(SPAST):c.*2150G>C
|
rs147721392
|
0.03807
|
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=)
|
rs12714
|
0.03803
|
NM_001353921.2(ARHGEF9):c.1322-49T>G
|
rs56401522
|
0.03802
|
NM_001371279.1(REEP1):c.*2825A>C
|
rs7580424
|
0.03801
|
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202
|
0.03793
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03789
|
NM_017755.6(NSUN2):c.622+7A>T
|
rs16877704
|
0.03788
|
NM_000834.5(GRIN2B):c.1126-12A>G
|
rs76777620
|
0.03782
|
NM_020919.4(ALS2):c.-95G>C
|
rs77327610
|
0.03775
|
NM_006612.6(KIF1C):c.1656A>G (p.Pro552=)
|
rs57144955
|
0.03773
|
NM_001244008.2(KIF1A):c.4666-18C>T
|
rs80067787
|
0.03770
|
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)
|
rs56092424
|
0.03763
|
NM_021098.3(CACNA1H):c.390C>T (p.Ser130=)
|
rs59794024
|
0.03762
|
NM_003924.4(PHOX2B):c.*600T>G
|
rs73139116
|
0.03760
|
NM_012193.4(FZD4):c.*4765T>C
|
rs72963441
|
0.03760
|
NM_130837.3(OPA1):c.2778+11C>G
|
rs111688935
|
0.03759
|
NM_002541.4(OGDH):c.3063C>T (p.Asn1021=)
|
rs61756584
|
0.03755
|
NM_005045.4(RELN):c.8508C>T (p.Phe2836=)
|
rs2229862
|
0.03751
|
NM_001367561.1(DOCK7):c.4283-4A>G
|
rs17123688
|
0.03743
|
NM_001127649.3(PEX26):c.*754A>G
|
rs114146293
|
0.03730
|
NM_001127222.2(CACNA1A):c.1782-20C>T
|
rs73513425
|
0.03727
|
NM_016373.4(WWOX):c.646C>G (p.Leu216Val)
|
rs7201683
|
0.03724
|
NM_000318.3(PEX2):c.*1141G>A
|
rs10108054
|
0.03721
|
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp)
|
rs34392760
|
0.03719
|
NM_006030.4(CACNA2D2):c.3349G>A (p.Val1117Ile)
|
rs72934809
|
0.03716
|
NM_000318.3(PEX2):c.*1909G>T
|
rs112352942
|
0.03714
|
NM_000318.3(PEX2):c.*2446C>T
|
rs73242165
|
0.03710
|
NM_018723.4(RBFOX1):c.126G>A (p.Thr42=)
|
rs17143930
|
0.03708
|
NM_014365.3(HSPB8):c.*440C>G
|
rs13378054
|
0.03707
|
NM_006612.6(KIF1C):c.2298C>T (p.His766=)
|
rs73345356
|
0.03703
|
NM_005076.5(CNTN2):c.1309C>G (p.Leu437Val)
|
rs79431021
|
0.03702
|
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser)
|
rs8177877
|
0.03699
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_001244008.2(KIF1A):c.*2576A>G
|
rs79286402
|
0.03692
|
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=)
|
rs28730848
|
0.03689
|
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=)
|
rs16011
|
0.03687
|
NM_001182.4(ALDH7A1):c.-60G>A
|
rs144272515
|
0.03685
|
NM_001376.5(DYNC1H1):c.*232C>T
|
rs17512996
|
0.03685
|
NM_004204.5(PIGQ):c.915G>C (p.Leu305=)
|
rs75952679
|
0.03672
|
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu)
|
rs148871409
|
0.03666
|
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn)
|
rs10465613
|
0.03661
|
NM_001191061.2(SLC25A22):c.412+10G>T
|
rs113091974
|
0.03661
|
NM_000318.3(PEX2):c.24G>A (p.Ala8=)
|
rs9298285
|
0.03660
|
NM_006493.4(CLN5):c.173+8C>T
|
rs9565308
|
0.03653
|
NM_152743.4(BRAT1):c.1798C>T (p.Leu600Phe)
|
rs56727079
|
0.03653
|
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014
|
0.03641
|
NM_000702.4(ATP1A2):c.*621A>G
|
rs12077973
|
0.03640
|
NM_004268.5(MED17):c.1260A>G (p.Ser420=)
|
rs36120755
|
0.03633
|
NM_001199107.2(TBC1D24):c.*56C>T
|
rs76267944
|
0.03630
|
NM_001379500.1(COL18A1):c.*277T>C
|
rs17004784
|
0.03626
|
NM_006087.4(TUBB4A):c.342C>T (p.Asp114=)
|
rs61741669
|
0.03618
|
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=)
|
rs17846714
|
0.03612
|
NM_152564.5(VPS13B):c.3667-7C>T
|
rs35543295
|
0.03607
|
NM_000284.4(PDHA1):c.-88G>A
|
rs5955751
|
0.03606
|
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=)
|
rs61744930
|
0.03600
|
NM_001122955.4(BSCL2):c.765+15C>T
|
rs79586077
|
0.03596
|
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)
|
rs1048719
|
0.03595
|
NM_006087.4(TUBB4A):c.*400G>A
|
rs8113500
|
0.03568
|
NM_003070.5(SMARCA2):c.*698T>C
|
rs45616134
|
0.03565
|
NM_001846.4(COL4A2):c.549+15G>C
|
rs74124318
|
0.03560
|
NM_153033.5(KCTD7):c.*1727G>C
|
rs17229513
|
0.03560
|
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_001244008.2(KIF1A):c.*2257C>T
|
rs11547136
|
0.03549
|
NM_000368.5(TSC1):c.*913C>T
|
rs117425923
|
0.03547
|
NM_000702.4(ATP1A2):c.*253C>T
|
rs78930771
|
0.03535
|
NM_025243.4(SLC19A3):c.*2104T>C
|
rs1055957
|
0.03534
|
NM_000702.4(ATP1A2):c.*546G>A
|
rs62621782
|
0.03531
|
NM_001134831.2(AHI1):c.-299G>A
|
rs113052089
|
0.03529
|
NM_015346.4(ZFYVE26):c.3757C>T (p.Leu1253=)
|
rs34296097
|
0.03528
|
NM_172107.4(KCNQ2):c.1302-18_1302-17insTGTCTGTT
|
rs1555854850
|
0.03520
|
NM_007055.4(POLR3A):c.*1448A>G
|
rs78703311
|
0.03518
|
NM_171998.4(RAB39B):c.*1813C>A
|
rs17052030
|
0.03516
|
NM_000100.3(CSTB):c.-54C>T
|
rs59649299
|
0.03508
|
NM_000318.3(PEX2):c.*2338C>T
|
rs56231626
|
0.03506
|
NM_014043.4(CHMP2B):c.*1503G>C
|
rs1060238
|
0.03503
|
NM_001127178.3(PIGG):c.2191G>A (p.Val731Ile)
|
rs34916638
|
0.03501
|
NM_001199753.2(CPT1C):c.453+14A>G
|
rs73588425
|
0.03501
|
NM_007262.5(PARK7):c.234C>T (p.Gly78=)
|
rs11548937
|
0.03501
|
NM_001182.5(ALDH7A1):c.518-12T>G
|
rs79544459
|
0.03492
|
NM_006087.4(TUBB4A):c.*700T>A
|
rs73920690
|
0.03486
|
NM_001958.5(EEF1A2):c.207C>T (p.Arg69=)
|
rs3818681
|
0.03482
|
NM_000454.5(SOD1):c.73-108T>A
|
rs16988404
|
0.03480
|
NM_014855.3(AP5Z1):c.*2841A>G
|
rs62453211
|
0.03480
|
NM_020919.4(ALS2):c.280A>G (p.Ile94Val)
|
rs3219154
|
0.03476
|
NM_001371279.1(REEP1):c.*630G>A
|
rs60838463
|
0.03472
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_007055.4(POLR3A):c.2100C>T (p.Ile700=)
|
rs79793998
|
0.03469
|
NM_001278116.2(L1CAM):c.1268-10C>T
|
rs112841948
|
0.03467
|
NM_002857.4(PEX19):c.*487T>A
|
rs16831724
|
0.03465
|
NM_001352514.2(HLCS):c.1960+16T>A
|
rs73398135
|
0.03462
|
NM_002032.3(FTH1):c.*222C>T
|
rs17156609
|
0.03454
|
NM_000021.4(PSEN1):c.*364T>C
|
rs362385
|
0.03451
|
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)
|
rs17884724
|
0.03446
|
NM_007055.4(POLR3A):c.240A>C (p.Leu80=)
|
rs12248310
|
0.03445
|
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)
|
rs11541780
|
0.03433
|
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=)
|
rs17001073
|
0.03431
|
NM_002617.4(PEX10):c.*11G>A
|
rs3795270
|
0.03427
|
NM_018319.4(TDP1):c.1107T>C (p.Asn369=)
|
rs10151377
|
0.03424
|
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=)
|
rs35085679
|
0.03417
|
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=)
|
rs10499268
|
0.03416
|
NM_000318.3(PEX2):c.*2142A>G
|
rs79700176
|
0.03415
|
NM_020944.3(GBA2):c.1795+7G>A
|
rs73438754
|
0.03415
|
NM_013275.6(ANKRD11):c.4932G>A (p.Gly1644=)
|
rs72821356
|
0.03413
|
NM_007055.4(POLR3A):c.*1862G>A
|
rs12572507
|
0.03410
|
NM_001134407.3(GRIN2A):c.1008-16C>G
|
rs9932916
|
0.03409
|
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)
|
rs76793093
|
0.03409
|
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=)
|
rs17104689
|
0.03409
|
NM_005045.4(RELN):c.7530C>T (p.Pro2510=)
|
rs2075038
|
0.03404
|
NM_001282531.3(ADNP):c.2076G>A (p.Lys692=)
|
rs6096168
|
0.03400
|
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=)
|
rs7844645
|
0.03400
|
NM_015166.4(MLC1):c.-59-17T>C
|
rs9628323
|
0.03393
|
NM_018834.6(MATR3):c.*708T>C
|
rs14109
|
0.03387
|
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=)
|
rs35945835
|
0.03379
|
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=)
|
rs945831
|
0.03378
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_004483.5(GCSH):c.90C>G (p.Pro30=)
|
rs8177847
|
0.03370
|
NM_005359.6(SMAD4):c.*685A>C
|
rs16952798
|
0.03369
|
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)
|
rs1051153
|
0.03363
|
NM_004035.7(ACOX1):c.*5124A>G
|
rs73355712
|
0.03353
|
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)
|
rs36014111
|
0.03348
|
NM_012073.5(CCT5):c.738G>A (p.Ala246=)
|
rs11557649
|
0.03346
|
NM_000466.3(PEX1):c.473-18G>A
|
rs2066743
|
0.03344
|
NM_000702.4(ATP1A2):c.1652-11C>G
|
rs17846713
|
0.03344
|
NM_004562.3(PRKN):c.111G>A (p.Pro37=)
|
rs77795533
|
0.03342
|
NM_000447.3(PSEN2):c.903G>T (p.Thr301=)
|
rs6426553
|
0.03334
|
NM_013247.5(HTRA2):c.*94C>T
|
rs79220020
|
0.03334
|
NM_001288705.3(CSF1R):c.294C>T (p.His98=)
|
rs17652007
|
0.03331
|
NM_001134407.3(GRIN2A):c.*2017C>G
|
rs112151383
|
0.03330
|
NM_002739.5(PRKCG):c.285C>T (p.Asp95=)
|
rs17854523
|
0.03329
|
NM_004960.4(FUS):c.153C>T (p.Gly51=)
|
rs61733962
|
0.03329
|
NM_012179.4(FBXO7):c.540A>G (p.Pro180=)
|
rs41311141
|
0.03327
|
NM_000310.4(PPT1):c.*1275G>A
|
rs12061777
|
0.03316
|
NM_001242896.3(DEPDC5):c.885A>G (p.Gln295=)
|
rs16989495
|
0.03316
|
NM_001242896.3(DEPDC5):c.364-10C>T
|
rs116263417
|
0.03313
|
NM_014363.6(SACS):c.909A>G (p.Ala303=)
|
rs41315020
|
0.03313
|
NM_005045.4(RELN):c.5351+3A>G
|
rs6967725
|
0.03307
|
NM_001040142.2(SCN2A):c.*1758C>T
|
rs75263553
|
0.03304
|
NM_002739.5(PRKCG):c.207C>T (p.Cys69=)
|
rs307955
|
0.03300
|
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=)
|
rs41275588
|
0.03299
|
NM_001330574.2(ZNF711):c.-449A>G
|
rs375972814
|
0.03298
|
NM_203446.3(SYNJ1):c.479+9A>G
|
rs76502784
|
0.03297
|
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=)
|
rs1051151
|
0.03295
|
NM_000318.3(PEX2):c.*1696C>T
|
rs112199677
|
0.03286
|
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=)
|
rs522776
|
0.03285
|
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val)
|
rs45467297
|
0.03285
|
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=)
|
rs10058037
|
0.03284
|
NM_003659.4(AGPS):c.*4821C>T
|
rs28576781
|
0.03281
|
NM_014846.4(WASHC5):c.186+17G>A
|
rs59134934
|
0.03280
|
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=)
|
rs34891041
|
0.03277
|
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)
|
rs59736804
|
0.03276
|
NM_032776.3(JMJD1C):c.1547C>G (p.Thr516Ser)
|
rs41274074
|
0.03270
|
NM_000284.4(PDHA1):c.604-15C>T
|
rs13440874
|
0.03269
|
NM_016373.4(WWOX):c.941G>A (p.Arg314His)
|
rs73572838
|
0.03269
|
NM_004960.3(FUS):c.*491T>G
|
rs73530293
|
0.03268
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_001377265.1(MAPT):c.*2269G>T
|
rs73317039
|
0.03265
|
NM_001371279.1(REEP1):c.*2766T>C
|
rs57249135
|
0.03260
|
NM_004035.7(ACOX1):c.*4296C>A
|
rs79900384
|
0.03254
|
NM_205836.3(FBXO38):c.2680G>A (p.Ala894Thr)
|
rs11949133
|
0.03254
|
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro)
|
rs35478150
|
0.03249
|
NM_001378452.1(ITPR1):c.-81A>G
|
rs13319720
|
0.03249
|
NM_004960.3(FUS):c.*2486G>A
|
rs73530298
|
0.03248
|
NM_004960.3(FUS):c.*2794G>C
|
rs17839571
|
0.03244
|
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)
|
rs17885864
|
0.03243
|
NM_003719.5(PDE8B):c.*70C>T
|
rs78676901
|
0.03231
|
NM_006397.3(RNASEH2A):c.-16T>C
|
rs1046220
|
0.03226
|
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His)
|
rs2230693
|
0.03222
|
NM_001161352.2(KCNMA1):c.2710-8T>C
|
rs78672251
|
0.03213
|
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=)
|
rs2242244
|
0.03204
|
NM_002541.4(OGDH):c.396G>A (p.Ser132=)
|
rs41280648
|
0.03200
|
NM_007055.4(POLR3A):c.*690C>T
|
rs74451934
|
0.03200
|
NM_005149.3(TBX19):c.*479G>C
|
rs1003315
|
0.03197
|
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=)
|
rs34315573
|
0.03193
|
NM_014324.6(AMACR):c.353G>A (p.Arg118Gln)
|
rs16892150
|
0.03193
|
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=)
|
rs1042512
|
0.03189
|
NM_001377265.1(MAPT):c.*3848A>G
|
rs114213384
|
0.03189
|
NM_153252.5(BRWD3):c.3602+14T>A
|
rs73502699
|
0.03187
|
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_001166114.2(PNPLA6):c.2071-15C>T
|
rs7250363
|
0.03172
|
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_145868.2(ANXA11):c.390C>T (p.Gly130=)
|
rs35694404
|
0.03162
|
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala)
|
rs9697983
|
0.03160
|
NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=)
|
rs56327604
|
0.03157
|
NM_001008212.2(OPTN):c.626+24G>A
|
rs11258211
|
0.03152
|
NM_003977.4(AIP):c.516C>T (p.Asp172=)
|
rs2276020
|
0.03152
|
NM_025136.4(OPA3):c.142+69G>C
|
rs62111684
|
0.03152
|
NM_018319.4(TDP1):c.*393T>C
|
rs7150480
|
0.03142
|
NM_033064.5(ATCAY):c.*1586T>C
|
rs10411454
|
0.03139
|
NM_032193.4(RNASEH2C):c.*2097C>T
|
rs4645934
|
0.03137
|
NM_018129.4(PNPO):c.*106A>T
|
rs117508783
|
0.03135
|
NM_021098.3(CACNA1H):c.6048+13G>A
|
rs3751888
|
0.03131
|
NM_006721.4(ADK):c.705T>C (p.Asp235=)
|
rs16931480
|
0.03126
|
NM_005591.4(MRE11):c.*442A>G
|
rs1061956
|
0.03122
|
NM_001365999.1(SZT2):c.5385T>G (p.Ser1795=)
|
rs12129487
|
0.03117
|
NM_002857.4(PEX19):c.*1084T>C
|
rs77962224
|
0.03113
|
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=)
|
rs74081707
|
0.03104
|
NM_001112741.2(KCNC1):c.72G>A (p.Ser24=)
|
rs76929858
|
0.03099
|
NM_002641.4(PIGA):c.55C>T (p.Arg19Trp)
|
rs34422225
|
0.03093
|
NM_002137.4(HNRNPA2B1):c.117+4T>C
|
rs41275982
|
0.03091
|
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser)
|
rs33958906
|
0.03091
|
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val)
|
rs28943594
|
0.03090
|
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)
|
rs34373049
|
0.03090
|
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile)
|
rs45520539
|
0.03076
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158
|
0.03068
|
NM_000081.4(LYST):c.5923-19G>T
|
rs141197189
|
0.03063
|
NM_007055.4(POLR3A):c.*426C>T
|
rs76696077
|
0.03063
|
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=)
|
rs34084388
|
0.03062
|
NM_007055.4(POLR3A):c.*1680C>G
|
rs80022412
|
0.03062
|
NM_006493.4(CLN5):c.1041T>C (p.Pro347=)
|
rs36038805
|
0.03060
|
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_198578.3(LRRK2):c.149A>G (p.His50Arg)
|
rs2256408
|
0.03048
|
NM_025000.4(DCAF17):c.555T>A (p.His185Gln)
|
rs3731984
|
0.03047
|
NM_000447.3(PSEN2):c.708T>C (p.Ser236=)
|
rs61730652
|
0.03044
|
NM_003907.3(EIF2B5):c.*128T>C
|
rs14955
|
0.03042
|
NM_014365.3(HSPB8):c.402T>C (p.Ile134=)
|
rs56323028
|
0.03035
|
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=)
|
rs61741123
|
0.03029
|
NM_003072.5(SMARCA4):c.2123+12C>T
|
rs17001090
|
0.03024
|
NM_001256864.2(DNAJC6):c.194-20_194-19insG
|
rs111346712
|
0.03019
|
NM_001244008.2(KIF1A):c.*1005G>A
|
rs58502378
|
0.03018
|
NM_013254.4(TBK1):c.66T>C (p.Asn22=)
|
rs41292019
|
0.03018
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=)
|
rs17001075
|
0.03015
|
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)
|
rs34751342
|
0.03013
|
NM_020708.5(SLC12A5):c.2012+3T>A
|
rs12481488
|
0.03011
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.03009
|
NM_033064.5(ATCAY):c.*806A>G
|
rs73919392
|
0.03009
|
NM_020919.4(ALS2):c.2842-16G>A
|
rs9288322
|
0.03008
|
NM_025000.4(DCAF17):c.*350G>A
|
rs3795996
|
0.03008
|
NM_002047.2(GARS1):c.-205C>T
|
rs17159262
|
0.03007
|
NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe)
|
rs6057581
|
0.03000
|
NM_006070.6(TFG):c.722-8G>T
|
rs41272979
|
0.02999
|
NM_001846.4(COL4A2):c.594C>T (p.Pro198=)
|
rs74124319
|
0.02997
|
NM_003730.6(RNASET2):c.147+3G>A
|
rs78446649
|
0.02990
|
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)
|
rs2307431
|
0.02985
|
NM_139318.5(KCNH5):c.2088G>A (p.Val696=)
|
rs36004050
|
0.02985
|
NM_003730.6(RNASET2):c.16C>T (p.Leu6=)
|
rs11557915
|
0.02984
|
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)
|
rs1804934
|
0.02975
|
NM_005573.4(LMNB1):c.432G>A (p.Ser144=)
|
rs34224885
|
0.02972
|
NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met)
|
rs34348991
|
0.02971
|
NM_005334.3(HCFC1):c.1605+20G>T
|
rs1002679
|
0.02967
|
NM_000081.4(LYST):c.7857T>C (p.His2619=)
|
rs34160788
|
0.02966
|
NM_004385.5(VCAN):c.7030C>T (p.Pro2344Ser)
|
rs61733401
|
0.02963
|
NM_024570.4(RNASEH2B):c.-210G>C
|
rs112702177
|
0.02962
|
NM_000081.4(LYST):c.6900G>A (p.Leu2300=)
|
rs10926586
|
0.02954
|
NM_000330.4(RS1):c.184+3207C>T
|
rs35693326
|
0.02951
|
NM_001382391.1(CSPP1):c.-34C>G
|
rs117210747
|
0.02944
|
NM_153252.5(BRWD3):c.*3483G>A
|
rs116559809
|
0.02942
|
NM_198578.4(LRRK2):c.*1446T>A
|
rs12422278
|
0.02939
|
NM_012310.5(KIF4A):c.969A>G (p.Thr323=)
|
rs5936873
|
0.02938
|
NM_001205293.3(CACNA1E):c.5844G>A (p.Gln1948=)
|
rs34741608
|
0.02935
|
NM_002047.2(GARS1):c.-217A>G
|
rs2970504
|
0.02929
|
NM_152722.5(HEPACAM):c.339G>A (p.Gln113=)
|
rs74570840
|
0.02928
|
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=)
|
rs6349
|
0.02926
|
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=)
|
rs118117962
|
0.02913
|
NM_033064.5(ATCAY):c.*976C>G
|
rs73919393
|
0.02901
|
NM_000096.4(CP):c.2554+17G>A
|
rs35593818
|
0.02896
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
NM_033064.5(ATCAY):c.*1542C>T
|
rs10404967
|
0.02886
|
NM_000081.4(LYST):c.7137A>C (p.Leu2379=)
|
rs61738992
|
0.02884
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
NM_003119.4(SPG7):c.2292C>T (p.Ile764=)
|
rs61747711
|
0.02864
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02863
|
NM_001037.5(SCN1B):c.207+14G>A
|
rs16969924
|
0.02860
|
NM_020708.5(SLC12A5):c.355C>A (p.Arg119=)
|
rs3848724
|
0.02859
|
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu)
|
rs73894929
|
0.02857
|
NM_020708.5(SLC12A5):c.534T>C (p.Gly178=)
|
rs3746519
|
0.02856
|
NM_015338.6(ASXL1):c.582C>T (p.His194=)
|
rs116633791
|
0.02852
|
NM_001371596.2(MFSD8):c.*2405G>A
|
rs11938181
|
0.02850
|
NM_020708.5(SLC12A5):c.1155C>T (p.Ile385=)
|
rs35804246
|
0.02850
|
NM_014846.4(WASHC5):c.1408+7A>G
|
rs16900312
|
0.02845
|
NM_014846.4(WASHC5):c.1151-8G>A
|
rs16900335
|
0.02839
|
NM_001134407.3(GRIN2A):c.*1385C>A
|
rs113843373
|
0.02837
|
NM_004183.4(BEST1):c.1023C>T (p.Pro341=)
|
rs1801390
|
0.02837
|
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=)
|
rs10429323
|
0.02837
|
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile)
|
rs17108378
|
0.02833
|
NM_012073.5(CCT5):c.*856A>C
|
rs72738998
|
0.02833
|
NM_001244008.2(KIF1A):c.2977+13C>T
|
rs116600932
|
0.02829
|
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys)
|
rs2130262
|
0.02821
|
NM_004385.5(VCAN):c.9075G>A (p.Thr3025=)
|
rs113014073
|
0.02820
|
NM_005359.6(SMAD4):c.*1179T>C
|
rs10470
|
0.02819
|
NM_025243.4(SLC19A3):c.*506C>T
|
rs115182620
|
0.02815
|
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr)
|
rs2228078
|
0.02812
|
NM_001374828.1(ARID1B):c.5001G>A (p.Pro1667=)
|
rs61738955
|
0.02808
|
NM_000487.6(ARSA):c.*1076A>T
|
rs114833506
|
0.02807
|
NM_000487.6(ARSA):c.*1769A>G
|
rs56788262
|
0.02807
|
NM_014043.4(CHMP2B):c.*1190G>T
|
rs115892684
|
0.02804
|
NM_000742.4(CHRNA2):c.*623G>A
|
rs79796894
|
0.02803
|
NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=)
|
rs6880875
|
0.02803
|
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=)
|
rs10964525
|
0.02801
|
NM_000742.4(CHRNA2):c.*1480C>T
|
rs113471592
|
0.02800
|
NM_000742.4(CHRNA2):c.*936C>T
|
rs112587531
|
0.02798
|
NM_001927.4(DES):c.*468G>T
|
rs73085265
|
0.02797
|
NM_014053.4(FLVCR1):c.*1751C>T
|
rs187971996
|
0.02794
|
NM_144599.5(NIPA1):c.*3278C>G
|
rs57615013
|
0.02793
|
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=)
|
rs74123254
|
0.02789
|
NM_018075.5(ANO10):c.*196C>A
|
rs73831274
|
0.02784
|
NM_001205293.3(CACNA1E):c.3263-15G>A
|
rs11808627
|
0.02783
|
NM_004385.5(VCAN):c.1043-10A>G
|
rs115912456
|
0.02772
|
NM_004385.5(VCAN):c.1045A>G (p.Lys349Glu)
|
rs61749613
|
0.02772
|
NM_000726.5(CACNB4):c.*3157T>A
|
rs10497086
|
0.02768
|
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)
|
rs29281
|
0.02758
|
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu)
|
rs820878
|
0.02757
|
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly)
|
rs3750904
|
0.02756
|
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=)
|
rs17677416
|
0.02755
|
NM_001242896.3(DEPDC5):c.1922C>T (p.Ala641Val)
|
rs16989528
|
0.02752
|
NM_138959.3(VANGL1):c.*2043C>T
|
rs74117021
|
0.02749
|
NM_000411.8(HLCS):c.-393+11G>T
|
rs557368288
|
0.02745
|
NM_018075.5(ANO10):c.*444C>T
|
rs114518528
|
0.02745
|
NM_000815.5(GABRD):c.1104C>T (p.Ala368=)
|
rs28398772
|
0.02739
|
NM_001378452.1(ITPR1):c.*1156A>C
|
rs73099961
|
0.02738
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_152722.5(HEPACAM):c.363G>A (p.Glu121=)
|
rs112686308
|
0.02736
|
NM_198859.4(PRICKLE2):c.*2567A>T
|
rs62249881
|
0.02734
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_001379500.1(COL18A1):c.915G>T (p.Val305=)
|
rs17338853
|
0.02722
|
NM_000061.3(BTK):c.*334T>G
|
rs183674618
|
0.02721
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
NM_182961.4(SYNE1):c.26002-4A>G
|
rs77220999
|
0.02717
|
NM_004984.4(KIF5A):c.*163C>T
|
rs77345621
|
0.02715
|
NM_001199107.2(TBC1D24):c.*1160G>A
|
rs7201970
|
0.02713
|
NM_004385.5(VCAN):c.8090G>A (p.Arg2697His)
|
rs61733389
|
0.02711
|
NM_006765.4(TUSC3):c.912G>A (p.Ser304=)
|
rs17121892
|
0.02710
|
NM_005413.4(SIX3):c.576C>T (p.Arg192=)
|
rs182881
|
0.02708
|
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=)
|
rs2838952
|
0.02704
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His)
|
rs59035258
|
0.02701
|
NM_001134407.3(GRIN2A):c.*8978G>C
|
rs79818496
|
0.02700
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02700
|
NM_000405.5(GM2A):c.*2801A>G
|
rs111935946
|
0.02697
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
NM_018122.5(DARS2):c.587A>G (p.Lys196Arg)
|
rs35515638
|
0.02693
|
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=)
|
rs60344647
|
0.02693
|
NM_000108.5(DLD):c.685-14T>A
|
rs80111449
|
0.02691
|
NM_018122.5(DARS2):c.663+8T>C
|
rs73037062
|
0.02691
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln)
|
rs76160752
|
0.02687
|
NM_001931.5(DLAT):c.693C>T (p.Thr231=)
|
rs34680691
|
0.02685
|
NM_001111125.3(IQSEC2):c.2297+14G>A
|
rs17002631
|
0.02684
|
NM_001371596.2(MFSD8):c.*2465A>G
|
rs72616968
|
0.02684
|
NM_005154.5(USP8):c.1328A>G (p.Asp443Gly)
|
rs3743044
|
0.02684
|
NM_014365.3(HSPB8):c.-193T>C
|
rs11549401
|
0.02683
|
NM_032776.3(JMJD1C):c.447+7A>C
|
rs73290502
|
0.02681
|
NM_153252.5(BRWD3):c.*1036A>C
|
rs41300175
|
0.02680
|
NM_020822.3(KCNT1):c.978A>G (p.Pro326=)
|
rs61739517
|
0.02678
|
NM_000368.5(TSC1):c.*1487C>T
|
rs79277527
|
0.02671
|
NM_025243.4(SLC19A3):c.*1925A>G
|
rs76014609
|
0.02668
|
NM_004975.4(KCNB1):c.198C>T (p.His66=)
|
rs520282
|
0.02665
|
NM_171998.4(RAB39B):c.*1580C>G
|
rs115301020
|
0.02663
|
NM_007055.4(POLR3A):c.*1782G>A
|
rs11817392
|
0.02657
|
NM_001127649.3(PEX26):c.*2878C>T
|
rs116424707
|
0.02655
|
NM_007055.4(POLR3A):c.*1589G>A
|
rs16935486
|
0.02655
|
NM_005154.5(USP8):c.1042G>A (p.Ala348Thr)
|
rs61733869
|
0.02648
|
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=)
|
rs1124894
|
0.02647
|
NM_001365088.1(SLC12A6):c.*3668T>A
|
rs11544435
|
0.02645
|
NM_003477.3(PDHX):c.641+4T>C
|
rs2767035
|
0.02645
|
NM_018834.6(MATR3):c.*1076T>C
|
rs2015602
|
0.02638
|
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe)
|
rs569543350
|
0.02637
|
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met)
|
rs2306914
|
0.02635
|
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser)
|
rs41338945
|
0.02627
|
NM_005573.4(LMNB1):c.*503A>T
|
rs181936031
|
0.02624
|
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)
|
rs61737997
|
0.02621
|
NM_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.02616
|
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)
|
rs34946105
|
0.02614
|
NM_001844.5(COL2A1):c.2625+9C>T
|
rs41272027
|
0.02608
|
NM_014053.4(FLVCR1):c.*377T>C
|
rs41258034
|
0.02608
|
NM_004960.3(FUS):c.*910C>T
|
rs118018900
|
0.02606
|
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser)
|
rs9282594
|
0.02606
|
NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=)
|
rs1805246
|
0.02603
|
NM_001127649.3(PEX26):c.*1608G>A
|
rs116824049
|
0.02602
|
NM_001540.5(HSPB1):c.*11C>T
|
rs1058872
|
0.02598
|
NM_015346.4(ZFYVE26):c.2332+7del
|
rs145183291
|
0.02598
|
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)
|
rs74943037
|
0.02595
|
NM_007254.4(PNKP):c.1189-10del
|
rs3739205
|
0.02593
|
NM_001134407.3(GRIN2A):c.*4739T>C
|
rs111346223
|
0.02592
|
NM_000368.5(TSC1):c.*682C>T
|
rs75252898
|
0.02584
|
NM_006859.4(LIAS):c.737+13A>T
|
rs79572060
|
0.02580
|
NM_006859.4(LIAS):c.306C>A (p.Leu102=)
|
rs61731032
|
0.02579
|
NM_001242896.3(DEPDC5):c.1095T>C (p.Asp365=)
|
rs79070552
|
0.02578
|
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=)
|
rs150512553
|
0.02576
|
NM_000368.5(TSC1):c.*2558A>G
|
rs115516164
|
0.02571
|
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn)
|
rs1801334
|
0.02570
|
NM_001127178.3(PIGG):c.990T>C (p.Ser330=)
|
rs11726338
|
0.02569
|
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=)
|
rs16887018
|
0.02568
|
NM_006267.5(RANBP2):c.2562A>G (p.Gly854=)
|
rs13426055
|
0.02567
|
NM_020822.3(KCNT1):c.1036-15G>A
|
rs112341167
|
0.02567
|
NM_005235.3(ERBB4):c.2202+15A>G
|
rs77836647
|
0.02566
|
NM_183075.3(CYP2U1):c.*31A>G
|
rs79009744
|
0.02566
|
NM_000153.4(GALC):c.397T>C (p.Leu133=)
|
rs56194647
|
0.02565
|
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=)
|
rs36044575
|
0.02562
|
NM_005154.5(USP8):c.3033G>A (p.Leu1011=)
|
rs11857513
|
0.02558
|
NM_002857.4(PEX19):c.*2417C>T
|
rs193290301
|
0.02557
|
NM_017672.6(TRPM7):c.1131+3A>G
|
rs79443717
|
0.02557
|
NM_021625.5(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967
|
0.02557
|
NM_025219.3(DNAJC5):c.*4007G>C
|
rs77777268
|
0.02556
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_002857.4(PEX19):c.433-11G>T
|
rs41265791
|
0.02551
|
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)
|
rs12008807
|
0.02548
|
NM_001191061.2(SLC25A22):c.-163-881C>T
|
rs115490180
|
0.02548
|
NM_000170.3(GLDC):c.666T>C (p.Asp222=)
|
rs12004164
|
0.02547
|
NM_153252.5(BRWD3):c.*3787T>C
|
rs146779779
|
0.02546
|
NM_000368.5(TSC1):c.*376C>T
|
rs114064768
|
0.02541
|
NM_144599.5(NIPA1):c.*2649A>G
|
rs8027756
|
0.02539
|
NM_003719.5(PDE8B):c.1366-5G>A
|
rs79008179
|
0.02537
|
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr)
|
rs112108739
|
0.02536
|
NM_000466.3(PEX1):c.3439-14_3439-13del
|
rs150005994
|
0.02536
|
NM_022464.5(SIL1):c.1029+6T>C
|
rs57028146
|
0.02536
|
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile)
|
rs2228380
|
0.02529
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
NM_001323289.2(CDKL5):c.555-19C>G
|
rs75057928
|
0.02527
|
NM_000170.3(GLDC):c.1155+43C>T
|
rs7040427
|
0.02526
|
NM_001379500.1(COL18A1):c.1221+14T>C
|
rs9976881
|
0.02526
|
NM_013275.6(ANKRD11):c.4344T>C (p.Tyr1448=)
|
rs61744778
|
0.02524
|
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln)
|
rs61745568
|
0.02524
|
NM_014855.3(AP5Z1):c.*2599T>C
|
rs143539039
|
0.02522
|
NM_004519.4(KCNQ3):c.*7095T>G
|
rs1437823
|
0.02520
|
NM_001379500.1(COL18A1):c.2277+14G>T
|
rs145217573
|
0.02518
|
NM_018206.6(VPS35):c.1938= (p.His646=)
|
rs168745
|
0.02516
|
NM_001199753.2(CPT1C):c.1494C>T (p.Asp498=)
|
rs61747405
|
0.02515
|
NM_004519.4(KCNQ3):c.*7371T>G
|
rs76268875
|
0.02511
|
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu)
|
rs141298312
|
0.02511
|
NM_001083614.2(EARS2):c.984G>A (p.Pro328=)
|
rs77939239
|
0.02510
|
NM_001145.4(ANG):c.-530T>C
|
rs117053048
|
0.02510
|
NM_001145.4(ANG):c.-579G>C
|
rs117466368
|
0.02509
|
NM_007375.4(TARDBP):c.*208G>A
|
rs148414479
|
0.02507
|
NM_000310.4(PPT1):c.837G>C (p.Gln279His)
|
rs72937434
|
0.02506
|
NM_001145.4(ANG):c.-401G>T
|
rs45591635
|
0.02505
|
NM_002937.5(RNASE4):c.-40T>C
|
rs117978329
|
0.02505
|
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg)
|
rs114619322
|
0.02505
|
NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser)
|
rs34467662
|
0.02504
|
NM_153033.5(KCTD7):c.*708C>T
|
rs79736939
|
0.02502
|
NM_004813.4(PEX16):c.303C>T (p.Ala101=)
|
rs80275010
|
0.02501
|
NM_004068.4(AP2M1):c.707+56G>T
|
rs2231220
|
0.02498
|
NM_144599.5(NIPA1):c.*5331T>G
|
rs73412681
|
0.02493
|
NM_000484.4(APP):c.1614T>C (p.Tyr538=)
|
rs45537238
|
0.02492
|
NM_152743.4(BRAT1):c.2209C>T (p.Arg737Trp)
|
rs60152725
|
0.02491
|
NM_001083614.2(EARS2):c.*400A>G
|
rs78770424
|
0.02484
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg)
|
rs75989452
|
0.02484
|
NM_020435.4(GJC2):c.594C>T (p.His198=)
|
rs116557768
|
0.02483
|
NM_145868.2(ANXA11):c.1458+77C>T
|
rs12775374
|
0.02483
|
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr)
|
rs1805021
|
0.02481
|
NM_145868.2(ANXA11):c.1335+94A>G
|
rs12767142
|
0.02481
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=)
|
rs3751845
|
0.02471
|
NM_013275.6(ANKRD11):c.6176C>A (p.Pro2059His)
|
rs117997391
|
0.02470
|
NM_024306.5(FA2H):c.*243G>A
|
rs115024147
|
0.02464
|
NM_001130438.3(SPTAN1):c.1221+11C>T
|
rs113357847
|
0.02463
|
NM_030930.4(UNC93B1):c.1206G>C (p.Pro402=)
|
rs112284414
|
0.02461
|
NM_001378452.1(ITPR1):c.*643A>T
|
rs41305987
|
0.02460
|
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys)
|
rs77664442
|
0.02460
|
NM_015915.5(ATL1):c.705C>T (p.Phe235=)
|
rs35044504
|
0.02457
|
NM_015338.6(ASXL1):c.2985C>T (p.His995=)
|
rs62206933
|
0.02455
|
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)
|
rs34885252
|
0.02454
|
NM_022089.4(ATP13A2):c.3235+17G>A
|
rs56146840
|
0.02453
|
NM_004519.4(KCNQ3):c.*2166A>G
|
rs35279095
|
0.02440
|
NM_000817.3(GAD1):c.*67A>G
|
rs769406
|
0.02439
|
NM_004562.3(PRKN):c.*820A>T
|
rs74701717
|
0.02439
|
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)
|
rs11539201
|
0.02438
|
NM_001127649.3(PEX26):c.*1003T>G
|
rs79085553
|
0.02437
|
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=)
|
rs1793947
|
0.02436
|
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn)
|
rs74944733
|
0.02435
|
NM_000170.3(GLDC):c.1482+19T>C
|
rs79114789
|
0.02433
|
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)
|
rs56072663
|
0.02433
|
NM_014844.5(TECPR2):c.-2C>T
|
rs17100874
|
0.02432
|
NM_152309.3(PIK3AP1):c.828C>T (p.Ala276=)
|
rs35668691
|
0.02430
|
NM_000021.4(PSEN1):c.*3889G>A
|
rs17125952
|
0.02429
|
NM_144599.5(NIPA1):c.*4734G>C
|
rs73412685
|
0.02429
|
NM_000487.6(ARSA):c.243C>T (p.Gly81=)
|
rs6151410
|
0.02425
|
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val)
|
rs74350038
|
0.02423
|
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro)
|
rs1046088
|
0.02418
|
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=)
|
rs111841420
|
0.02418
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
NM_000288.4(PEX7):c.-31G>A
|
rs115866467
|
0.02411
|
NM_130837.3(OPA1):c.629C>T (p.Ala210Val)
|
rs34307082
|
0.02411
|
NM_001242896.3(DEPDC5):c.2241C>G (p.Leu747=)
|
rs16989537
|
0.02410
|
NM_003659.4(AGPS):c.207A>G (p.Ala69=)
|
rs34744592
|
0.02410
|
NM_001182.5(ALDH7A1):c.*2254T>A
|
rs76249070
|
0.02408
|
NM_130837.3(OPA1):c.*2286T>C
|
rs115575058
|
0.02406
|
NM_144599.5(NIPA1):c.*2469A>G
|
rs73412688
|
0.02406
|
NM_182961.4(SYNE1):c.7556+14A>G
|
rs78034368
|
0.02406
|
NM_001368809.2(AMPD2):c.1984-19C>T
|
rs75276578
|
0.02404
|
NM_198859.4(PRICKLE2):c.*3333T>C
|
rs72874609
|
0.02403
|
NM_001378452.1(ITPR1):c.*47G>C
|
rs74998763
|
0.02401
|
NM_001378452.1(ITPR1):c.*48T>G
|
rs77764633
|
0.02400
|
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=)
|
rs2273761
|
0.02399
|
NM_001429.4(EP300):c.2131+18T>A
|
rs9611506
|
0.02398
|
NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe)
|
rs16989535
|
0.02396
|
NM_177550.5(SLC13A5):c.369-14C>T
|
rs218677
|
0.02396
|
NM_000318.3(PEX2):c.*458G>A
|
rs143201132
|
0.02392
|
NM_001127222.2(CACNA1A):c.1781+18C>A
|
rs16013
|
0.02392
|
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly)
|
rs1805020
|
0.02391
|
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala)
|
rs56227200
|
0.02390
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr)
|
rs34642241
|
0.02388
|
NM_014846.4(WASHC5):c.597A>G (p.Pro199=)
|
rs7812319
|
0.02380
|
NM_033305.3(VPS13A):c.*942C>T
|
rs1048743
|
0.02380
|
NM_004519.4(KCNQ3):c.*1697C>G
|
rs71526238
|
0.02377
|
NM_001110792.2(MECP2):c.*4576A>C
|
rs3027920
|
0.02376
|
NM_004565.3(PEX14):c.475G>A (p.Val159Met)
|
rs74052157
|
0.02375
|
NM_000702.4(ATP1A2):c.*682T>C
|
rs60949592
|
0.02374
|
NM_003383.5(VLDLR):c.24G>A (p.Ala8=)
|
rs34336270
|
0.02372
|
NM_004519.4(KCNQ3):c.*7464C>A
|
rs35604597
|
0.02371
|
NM_000405.5(GM2A):c.*401G>A
|
rs116809628
|
0.02370
|
NM_033305.3(VPS13A):c.2964+13A>G
|
rs115996561
|
0.02367
|
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)
|
rs28413664
|
0.02366
|
NM_001205293.3(CACNA1E):c.3732-14C>T
|
rs2293991
|
0.02361
|
NM_001127649.3(PEX26):c.*2701G>C
|
rs114075265
|
0.02360
|
NM_001386140.1(MTTP):c.*113G>C
|
rs112407688
|
0.02360
|
NM_003977.4(AIP):c.132C>T (p.Asp44=)
|
rs11822907
|
0.02357
|
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val)
|
rs61731662
|
0.02356
|
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)
|
rs113337987
|
0.02355
|
NM_152617.4(RNF168):c.972G>A (p.Glu324=)
|
rs35405598
|
0.02354
|
NM_000368.5(TSC1):c.*107T>C
|
rs116917669
|
0.02353
|
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)
|
rs113557405
|
0.02353
|
NM_012073.5(CCT5):c.*1377C>G
|
rs11956986
|
0.02353
|
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=)
|
rs2228952
|
0.02352
|
NM_001365088.1(SLC12A6):c.2042+32C>A
|
rs79436830
|
0.02352
|
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
NM_005045.4(RELN):c.6672-15G>A
|
rs73418565
|
0.02349
|
NM_018075.5(ANO10):c.486C>T (p.Leu162=)
|
rs34829628
|
0.02348
|
NM_000330.4(RS1):c.184+35T>C
|
rs6633109
|
0.02347
|
NM_006796.3(AFG3L2):c.1026+8G>A
|
rs8091858
|
0.02347
|
NM_014053.4(FLVCR1):c.*891A>G
|
rs41301029
|
0.02342
|
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=)
|
rs78046172
|
0.02340
|
NM_021625.5(TRPV4):c.854-5C>T
|
rs116401333
|
0.02337
|
NM_024989.4(PGAP1):c.534T>G (p.Leu178=)
|
rs35444896
|
0.02335
|
NM_033343.4(LHX4):c.-120C>T
|
rs355625
|
0.02332
|
NM_014467.3(SRPX2):c.163+12T>C
|
rs73555462
|
0.02331
|
NM_001135674.2(SMIM19):c.-288T>A
|
rs113755761
|
0.02320
|
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=)
|
rs73638274
|
0.02319
|
NM_032776.3(JMJD1C):c.759T>C (p.Gly253=)
|
rs34037273
|
0.02313
|
NM_001244008.2(KIF1A):c.3901+11T>C
|
rs56847463
|
0.02310
|
NM_032776.3(JMJD1C):c.7200C>G (p.Asp2400Glu)
|
rs34491125
|
0.02306
|
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=)
|
rs76751358
|
0.02305
|
NM_005149.3(TBX19):c.*26C>G
|
rs143627386
|
0.02303
|
NM_033305.3(VPS13A):c.2718A>G (p.Val906=)
|
rs79287753
|
0.02299
|
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys)
|
rs76077278
|
0.02297
|
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met)
|
rs35471427
|
0.02295
|
NM_003477.3(PDHX):c.507C>T (p.Ile169=)
|
rs79170416
|
0.02292
|
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=)
|
rs2560722
|
0.02288
|
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=)
|
rs2227865
|
0.02288
|
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=)
|
rs12373107
|
0.02286
|
NM_004082.5(DCTN1):c.*21C>T
|
rs11555696
|
0.02286
|
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=)
|
rs77560694
|
0.02284
|
NM_015192.4(PLCB1):c.1581+15C>T
|
rs79284104
|
0.02283
|
NM_000817.3(GAD1):c.*700C>T
|
rs45479900
|
0.02281
|
NM_001845.6(COL4A1):c.958-9C>T
|
rs73611465
|
0.02279
|
NM_001371279.1(REEP1):c.784-19T>G
|
rs141722767
|
0.02274
|
NM_152309.3(PIK3AP1):c.2171-7C>T
|
rs111902593
|
0.02273
|
NM_002618.4(PEX13):c.*775G>A
|
rs143032208
|
0.02272
|
NM_006267.5(RANBP2):c.3597G>A (p.Ala1199=)
|
rs17036806
|
0.02270
|
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)
|
rs11544970
|
0.02268
|
NM_032409.3(PINK1):c.*490A>C
|
rs16824318
|
0.02268
|
NM_031844.3(HNRNPU):c.2352+14A>T
|
rs57080269
|
0.02263
|
NM_001365536.1(SCN9A):c.3802-8T>C
|
rs76550960
|
0.02262
|
NM_001844.5(COL2A1):c.*4C>T
|
rs41272773
|
0.02262
|
NM_024411.5(PDYN):c.*369A>G
|
rs73894108
|
0.02261
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
NM_001199107.2(TBC1D24):c.*1575C>T
|
rs4786286
|
0.02254
|
NM_001173990.3(TMEM216):c.*444T>C
|
rs116047887
|
0.02253
|
NM_001365088.1(SLC12A6):c.*1098G>A
|
rs117846663
|
0.02253
|
NM_002857.4(PEX19):c.*2637G>A
|
rs41265787
|
0.02253
|
NM_032603.5(LOXL3):c.*237G>T
|
rs71640295
|
0.02253
|
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp)
|
rs181415619
|
0.02251
|
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)
|
rs1143650
|
0.02248
|
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=)
|
rs35079513
|
0.02248
|
NM_014845.6(FIG4):c.-120C>T
|
rs75045314
|
0.02248
|
NM_006087.4(TUBB4A):c.1287G>A (p.Thr429=)
|
rs61731566
|
0.02245
|
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly)
|
rs2303995
|
0.02242
|
NM_025136.4(OPA3):c.-38A>G
|
rs45527139
|
0.02241
|
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=)
|
rs185512321
|
0.02235
|
NM_001854.4(COL11A1):c.1944+11T>C
|
rs71664954
|
0.02235
|
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg)
|
rs115734214
|
0.02229
|
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)
|
rs76708142
|
0.02223
|
NM_001166114.2(PNPLA6):c.1252+17C>A
|
rs117630756
|
0.02222
|
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=)
|
rs61734529
|
0.02220
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_182961.4(SYNE1):c.*583A>G
|
rs3756933
|
0.02216
|
NM_000170.3(GLDC):c.671G>A (p.Arg224His)
|
rs28617412
|
0.02214
|
NM_018082.6(POLR3B):c.-95C>T
|
rs17219334
|
0.02211
|
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln)
|
rs74401238
|
0.02210
|
NM_018489.3(ASH1L):c.1318T>G (p.Cys440Gly)
|
rs114218266
|
0.02209
|
NM_033064.5(ATCAY):c.*1036G>C
|
rs73919394
|
0.02206
|
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg)
|
rs1808140
|
0.02204
|
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)
|
rs41291566
|
0.02201
|
NM_173728.4(ARHGEF15):c.2323C>T (p.Arg775Trp)
|
rs79993581
|
0.02200
|
NM_005149.3(TBX19):c.*1155C>G
|
rs77202012
|
0.02199
|
NM_006267.5(RANBP2):c.2330A>G (p.His777Arg)
|
rs61748146
|
0.02199
|
NM_144599.5(NIPA1):c.*5299G>C
|
rs73412682
|
0.02199
|
NM_025136.4(OPA3):c.*6394G>A
|
rs151030695
|
0.02197
|
NM_002857.4(PEX19):c.*898A>G
|
rs8989
|
0.02188
|
NM_006261.5(PROP1):c.174G>A (p.Pro58=)
|
rs2233784
|
0.02188
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_022168.4(IFIH1):c.2305-19T>C
|
rs74162085
|
0.02187
|
NM_024306.5(FA2H):c.*1129G>A
|
rs7184172
|
0.02186
|
NM_000702.4(ATP1A2):c.*1780G>A
|
rs74123255
|
0.02185
|
NM_022168.4(IFIH1):c.2455-7T>A
|
rs41399348
|
0.02185
|
NM_001110792.2(MECP2):c.*7748C>T
|
rs3027917
|
0.02184
|
NM_022168.4(IFIH1):c.2454+6T>C
|
rs6748554
|
0.02184
|
NM_014855.3(AP5Z1):c.1708-14C>T
|
rs118139547
|
0.02183
|
NM_000284.4(PDHA1):c.*392G>A
|
rs56318063
|
0.02182
|
NM_001134407.3(GRIN2A):c.*3721T>C
|
rs16966262
|
0.02182
|
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His)
|
rs117501809
|
0.02182
|
NM_003730.6(RNASET2):c.-321G>T
|
rs182515066
|
0.02178
|
NM_205836.3(FBXO38):c.2654-16T>C
|
rs147707335
|
0.02178
|
NM_001077350.3(NPRL3):c.1041G>A (p.Pro347=)
|
rs1128426
|
0.02170
|
NM_001199107.2(TBC1D24):c.*2529A>T
|
rs565226115
|
0.02169
|
NM_014845.6(FIG4):c.-121G>A
|
rs75509752
|
0.02164
|
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=)
|
rs61745228
|
0.02162
|
NM_001199107.2(TBC1D24):c.*732A>G
|
rs4075481
|
0.02161
|
NM_007375.4(TARDBP):c.*2331A>G
|
rs114897688
|
0.02160
|
NM_003659.4(AGPS):c.*2636G>C
|
rs77450843
|
0.02159
|
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys)
|
rs34610829
|
0.02158
|
NM_006397.3(RNASEH2A):c.777C>T (p.Ser259=)
|
rs76634951
|
0.02157
|
NM_018713.3(SLC30A10):c.*276C>T
|
rs138571819
|
0.02157
|
NM_001846.4(COL4A2):c.315+14G>T
|
rs78713113
|
0.02155
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_006261.5(PROP1):c.*419C>T
|
rs116225539
|
0.02154
|
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr)
|
rs13210127
|
0.02151
|
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=)
|
rs11611
|
0.02142
|
NM_000287.4(PEX6):c.207C>T (p.Pro69=)
|
rs11539736
|
0.02141
|
NM_015338.6(ASXL1):c.2251G>A (p.Val751Ile)
|
rs6058693
|
0.02141
|
NM_004813.4(PEX16):c.*438C>T
|
rs2280328
|
0.02139
|
NM_015046.7(SETX):c.*561A>C
|
rs73661150
|
0.02138
|
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn)
|
rs28943589
|
0.02134
|
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=)
|
rs138705766
|
0.02134
|
NM_004519.4(KCNQ3):c.*1407A>C
|
rs76570743
|
0.02131
|
NM_004115.4(FGF14):c.*471A>C
|
rs75498912
|
0.02130
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
0.02125
|
NM_153252.5(BRWD3):c.*6157C>T
|
rs142555243
|
0.02125
|
NM_001191061.2(SLC25A22):c.*436C>T
|
rs112476979
|
0.02124
|
NM_001199107.2(TBC1D24):c.*1814G>C
|
rs28668740
|
0.02123
|
NM_177550.5(SLC13A5):c.716+11G>C
|
rs7215596
|
0.02122
|
NM_000817.3(GAD1):c.1002+12G>A
|
rs701491
|
0.02121
|
NM_025137.4(SPG11):c.6754+19A>G
|
rs116635875
|
0.02121
|
NM_000098.3(CPT2):c.511C>T (p.Leu171=)
|
rs2229292
|
0.02118
|
NM_001199107.2(TBC1D24):c.*836C>T
|
rs4075480
|
0.02118
|
NM_001845.6(COL4A1):c.1084+5C>G
|
rs74508743
|
0.02118
|
NM_007126.5(VCP):c.*596C>T
|
rs55745923
|
0.02117
|
NM_130797.4(DPP6):c.813G>A (p.Gln271=)
|
rs61736427
|
0.02116
|
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=)
|
rs2241683
|
0.02108
|
NM_002032.3(FTH1):c.*319G>A
|
rs75281081
|
0.02107
|
NM_015046.7(SETX):c.498+20G>A
|
rs73659013
|
0.02106
|
NM_000817.3(GAD1):c.-158G>A
|
rs45486908
|
0.02100
|
NM_014946.4(SPAST):c.*2399C>T
|
rs72796869
|
0.02100
|
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050
|
0.02098
|
NM_003690.5(PRKRA):c.609+20A>G
|
rs73973115
|
0.02096
|
NM_001365088.1(SLC12A6):c.2934+12G>C
|
rs11854257
|
0.02091
|
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=)
|
rs34941871
|
0.02088
|
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)
|
rs2274516
|
0.02086
|
NM_015046.7(SETX):c.6936-27T>G
|
rs2296866
|
0.02083
|
NM_025000.4(DCAF17):c.*188T>A
|
rs142315519
|
0.02083
|
NM_001854.4(COL11A1):c.-78T>A
|
rs12025921
|
0.02079
|
NM_015294.6(TRIM37):c.-224A>G
|
rs11541295
|
0.02079
|
NM_012193.4(FZD4):c.*5077C>G
|
rs143372848
|
0.02078
|
NM_004385.5(VCAN):c.*31A>G
|
rs17206014
|
0.02076
|
NM_018718.3(CEP41):c.*927T>C
|
rs73152870
|
0.02074
|
NM_024411.5(PDYN):c.*556C>T
|
rs73571349
|
0.02074
|
NM_015166.4(MLC1):c.*55C>T
|
rs41283496
|
0.02067
|
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)
|
rs35874850
|
0.02064
|
NM_013275.6(ANKRD11):c.3162A>G (p.Lys1054=)
|
rs61729371
|
0.02062
|
NM_014946.4(SPAST):c.*3013T>C
|
rs72796870
|
0.02059
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.02056
|
NM_001429.4(EP300):c.5061+9C>T
|
rs73176628
|
0.02054
|
NM_018129.4(PNPO):c.*1668G>A
|
rs7208554
|
0.02054
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=)
|
rs79914457
|
0.02054
|
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=)
|
rs34491089
|
0.02052
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
NM_001134407.3(GRIN2A):c.*5775T>A
|
rs9933772
|
0.02051
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
NM_001256054.3(C9orf72):c.-164T>C
|
rs41272893
|
0.02049
|
NM_001199107.2(TBC1D24):c.1143-6C>T
|
rs73490287
|
0.02047
|
NM_003070.5(SMARCA2):c.*431G>A
|
rs17387924
|
0.02045
|
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751
|
0.02044
|
NM_018129.4(PNPO):c.486C>G (p.Pro162=)
|
rs35974730
|
0.02044
|
NM_018129.4(PNPO):c.546+15G>A
|
rs71377328
|
0.02044
|
NM_014855.3(AP5Z1):c.*2849G>T
|
rs149076549
|
0.02042
|
NM_018129.4(PNPO):c.*611C>T
|
rs7219707
|
0.02041
|
NM_003042.4(SLC6A1):c.780G>A (p.Thr260=)
|
rs33948309
|
0.02040
|
NM_005045.4(RELN):c.26A>C (p.Gln9Pro)
|
rs115165703
|
0.02037
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_018319.4(TDP1):c.*539G>A
|
rs35090050
|
0.02032
|
NM_001165963.4(SCN1A):c.1662+9C>A
|
rs7559148
|
0.02030
|
NM_001352514.2(HLCS):c.*40A>G
|
rs77014096
|
0.02028
|
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=)
|
rs129974
|
0.02027
|
NM_152743.4(BRAT1):c.854G>A (p.Arg285Gln)
|
rs77213198
|
0.02022
|
NM_003659.4(AGPS):c.*4618A>G
|
rs75827012
|
0.02017
|
NM_001352514.2(HLCS):c.2361C>T (p.Val787=)
|
rs61732507
|
0.02015
|
NM_001271.4(CHD2):c.3596-20G>A
|
rs78359469
|
0.02014
|
NM_152743.4(BRAT1):c.924-14G>A
|
rs113638677
|
0.02010
|
NM_001844.5(COL2A1):c.*295C>T
|
rs41272781
|
0.02009
|
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)
|
rs35798522
|
0.02009
|
NM_004204.5(PIGQ):c.27G>A (p.Thr9=)
|
rs61753370
|
0.02006
|
NM_016219.5(MAN1B1):c.*157C>G
|
rs61545361
|
0.02001
|
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)
|
rs35732838
|
0.01999
|
NM_014053.4(FLVCR1):c.*855T>C
|
rs564661630
|
0.01999
|
NM_001134407.3(GRIN2A):c.1329-8C>T
|
rs7193290
|
0.01998
|
NM_001367561.1(DOCK7):c.6255G>A (p.Pro2085=)
|
rs35747851
|
0.01994
|
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=)
|
rs12115733
|
0.01994
|
NM_139058.3(ARX):c.1347C>T (p.Gly449=)
|
rs75489697
|
0.01993
|
NM_005149.3(TBX19):c.*469G>A
|
rs16860362
|
0.01991
|
NM_003690.5(PRKRA):c.*200G>A
|
rs141995027
|
0.01989
|
NM_001242896.3(DEPDC5):c.1165C>T (p.Arg389Cys)
|
rs41311139
|
0.01988
|
NM_001365999.1(SZT2):c.6888C>T (p.Cys2296=)
|
rs72671125
|
0.01988
|
NM_002693.3(POLG):c.1950-21C>T
|
rs2307452
|
0.01987
|
NM_001130438.3(SPTAN1):c.6708-7C>T
|
rs16930539
|
0.01980
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
NM_001379500.1(COL18A1):c.2728-8G>A
|
rs116618591
|
0.01979
|
NM_014855.3(AP5Z1):c.*2501G>A
|
rs115452328
|
0.01978
|
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)
|
rs41287110
|
0.01976
|
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=)
|
rs35139906
|
0.01973
|
NM_004035.7(ACOX1):c.110-20G>T
|
rs9914319
|
0.01969
|
NM_000061.3(BTK):c.954T>C (p.Ser318=)
|
rs5991926
|
0.01964
|
NM_012073.5(CCT5):c.332-18C>G
|
rs11741923
|
0.01963
|
NM_003719.5(PDE8B):c.*480T>G
|
rs72769019
|
0.01962
|
NM_006030.4(CACNA2D2):c.224G>A (p.Arg75Gln)
|
rs41291734
|
0.01961
|
NM_152743.4(BRAT1):c.1636G>T (p.Val546Leu)
|
rs34656552
|
0.01960
|
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=)
|
rs116359869
|
0.01957
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
NM_001134407.3(GRIN2A):c.*121G>T
|
rs75272984
|
0.01949
|
NM_004722.4(AP4M1):c.255-16C>T
|
rs74961284
|
0.01949
|
NM_033064.5(ATCAY):c.*507G>C
|
rs116813246
|
0.01949
|
NM_001352514.2(HLCS):c.*1484A>G
|
rs78926199
|
0.01946
|
NM_000744.7(CHRNA4):c.1759-14G>A
|
rs45440192
|
0.01945
|
NM_015166.4(MLC1):c.*1143C>T
|
rs2294384
|
0.01944
|
NM_001037.5(SCN1B):c.501T>C (p.Ile167=)
|
rs16969930
|
0.01942
|
NM_001040142.2(SCN2A):c.*2364T>G
|
rs73969402
|
0.01942
|
NM_001040142.2(SCN2A):c.*2422G>T
|
rs73972503
|
0.01941
|
NM_001040142.2(SCN2A):c.*2440C>G
|
rs73972504
|
0.01941
|
NM_001352514.2(HLCS):c.*547C>T
|
rs116526486
|
0.01940
|
NM_001191061.2(SLC25A22):c.-141G>A
|
rs79919483
|
0.01938
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=)
|
rs115234947
|
0.01931
|
NM_017791.3(FLVCR2):c.*991T>C
|
rs117346030
|
0.01931
|
NM_001099403.2(PRDM8):c.1683C>T (p.Ser561=)
|
rs150632206
|
0.01930
|
NM_032737.4(LMNB2):c.55G>A (p.Ala19Thr)
|
rs3764582
|
0.01929
|
NM_005045.4(RELN):c.7110T>C (p.Val2370=)
|
rs362746
|
0.01926
|
NM_024411.5(PDYN):c.*138A>G
|
rs111525766
|
0.01924
|
NM_003070.5(SMARCA2):c.*716A>G
|
rs1061478
|
0.01921
|
NM_004733.4(SLC33A1):c.327A>G (p.Gln109=)
|
rs74578336
|
0.01921
|
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_005120.3(MED12):c.2259G>A (p.Arg753=)
|
rs61752446
|
0.01916
|
NM_001844.5(COL2A1):c.610-7G>A
|
rs7967258
|
0.01915
|
NM_003719.5(PDE8B):c.*437A>G
|
rs3733953
|
0.01915
|
NM_001429.4(EP300):c.1283-8T>C
|
rs76827562
|
0.01914
|
NM_020988.3(GNAO1):c.593+18C>T
|
rs12721463
|
0.01914
|
NM_001429.4(EP300):c.942C>T (p.Gly314=)
|
rs20553
|
0.01913
|
NM_001365999.1(SZT2):c.9441-12C>T
|
rs115595942
|
0.01911
|
NM_015346.4(ZFYVE26):c.6921C>T (p.Ser2307=)
|
rs35917338
|
0.01911
|
NM_000033.4(ABCD1):c.1393+31C>T
|
rs73633774
|
0.01908
|
NM_003640.5(ELP1):c.959-15C>T
|
rs112114410
|
0.01906
|
NM_006796.3(AFG3L2):c.*2G>A
|
rs113981080
|
0.01903
|
NM_001367561.1(DOCK7):c.1389A>C (p.Arg463=)
|
rs35627175
|
0.01901
|
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=)
|
rs75060573
|
0.01901
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_005149.3(TBX19):c.917-14G>A
|
rs71632355
|
0.01897
|
NM_012193.4(FZD4):c.*2G>T
|
rs61749246
|
0.01897
|
NM_018075.5(ANO10):c.788G>A (p.Arg263His)
|
rs41289586
|
0.01896
|
NM_005045.4(RELN):c.4589-8T>G
|
rs362801
|
0.01890
|
NM_003119.4(SPG7):c.1664-15C>A
|
rs80292600
|
0.01888
|
NM_000533.5(PLP1):c.622+28C>G
|
rs16984053
|
0.01887
|
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu)
|
rs61744585
|
0.01884
|
NM_001367561.1(DOCK7):c.3472-5A>G
|
rs76660788
|
0.01882
|
NM_001134407.3(GRIN2A):c.*5942G>A
|
rs16966255
|
0.01879
|
NM_001160148.2(DDHD1):c.448G>T (p.Gly150Cys)
|
rs73296180
|
0.01877
|
NM_001110792.2(MECP2):c.*7856A>C
|
rs3027915
|
0.01876
|
NM_153252.5(BRWD3):c.813+10G>C
|
rs55824836
|
0.01875
|
NM_001378969.1(KCND3):c.669G>C (p.Ser223=)
|
rs17215423
|
0.01872
|
NM_001134407.3(GRIN2A):c.*6452G>A
|
rs74011019
|
0.01868
|
NM_014495.4(ANGPTL3):c.1003T>C (p.Leu335=)
|
rs12563308
|
0.01867
|
NM_000156.6(GAMT):c.*11C>T
|
rs149268921
|
0.01866
|
NM_001378969.1(KCND3):c.375G>A (p.Pro125=)
|
rs2289723
|
0.01862
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
NM_007118.4(TRIO):c.5523C>T (p.Ser1841=)
|
rs17500731
|
0.01857
|
NM_015346.4(ZFYVE26):c.*1133A>G
|
rs73276687
|
0.01855
|
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=)
|
rs4134932
|
0.01854
|
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=)
|
rs74140280
|
0.01852
|
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)
|
rs1130484
|
0.01851
|
NM_007347.5(AP4E1):c.2905-8A>G
|
rs56813592
|
0.01851
|
NM_004183.4(BEST1):c.201G>C (p.Leu67=)
|
rs1801393
|
0.01850
|
NM_004562.3(PRKN):c.574A>C (p.Met192Leu)
|
rs9456735
|
0.01850
|
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala)
|
rs78048112
|
0.01850
|
NM_015346.4(ZFYVE26):c.7407T>C (p.Asp2469=)
|
rs35106153
|
0.01846
|
NM_001127649.3(PEX26):c.*400C>T
|
rs74988725
|
0.01840
|
NM_001127649.3(PEX26):c.*692T>C
|
rs79936154
|
0.01840
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
NM_002180.2(IGHMBP2):c.-68T>C
|
rs57258566
|
0.01836
|
NM_003070.5(SMARCA2):c.2992-8G>A
|
rs77406154
|
0.01836
|
NM_005045.4(RELN):c.6672-16C>T
|
rs79610318
|
0.01836
|
NM_001127649.3(PEX26):c.*943G>A
|
rs79785382
|
0.01835
|
NM_004115.4(FGF14):c.*1063G>A
|
rs58555898
|
0.01834
|
NM_004960.3(FUS):c.*2393T>A
|
rs541197027
|
0.01834
|
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=)
|
rs57902950
|
0.01833
|
NM_000405.5(GM2A):c.*1695C>A
|
rs115956086
|
0.01829
|
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=)
|
rs61753391
|
0.01829
|
NM_001776.6(ENTPD1):c.877G>A (p.Val293Ile)
|
rs3793744
|
0.01829
|
NM_000100.4(CSTB):c.15G>T (p.Ala5=)
|
rs4533
|
0.01826
|
NM_031844.3(HNRNPU):c.803+11C>T
|
rs74152197
|
0.01825
|
NM_001077418.3(TMEM231):c.582+3A>G
|
rs114290622
|
0.01823
|
NM_003119.4(SPG7):c.1770C>T (p.Ala590=)
|
rs60488729
|
0.01823
|
NM_004035.7(ACOX1):c.*3943C>T
|
rs16968333
|
0.01823
|
NM_004813.4(PEX16):c.307G>A (p.Val103Met)
|
rs11553094
|
0.01821
|
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=)
|
rs3025694
|
0.01815
|
NM_025219.3(DNAJC5):c.*4385A>T
|
rs77335831
|
0.01815
|
NM_003659.4(AGPS):c.261-5A>C
|
rs73029113
|
0.01813
|
NM_018122.5(DARS2):c.397-6T>G
|
rs115051769
|
0.01810
|
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly)
|
rs78599355
|
0.01806
|
NM_001199107.2(TBC1D24):c.*2395A>G
|
rs11543247
|
0.01806
|
NM_004385.5(VCAN):c.426G>A (p.Thr142=)
|
rs35031282
|
0.01806
|
NM_000368.4(TSC1):c.*4898G>A
|
rs79220715
|
0.01804
|
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser)
|
rs185987427
|
0.01804
|
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)
|
rs55916120
|
0.01802
|
NM_000748.2(CHRNB2):c.-296G>A
|
rs2072658
|
0.01801
|
NM_004035.7(ACOX1):c.*474G>A
|
rs115919790
|
0.01800
|
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=)
|
rs35004053
|
0.01800
|
NM_001127222.2(CACNA1A):c.3989+16A>G
|
rs149764550
|
0.01798
|
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met)
|
rs11766611
|
0.01795
|
NM_001145.4(ANG):c.-534C>T
|
rs117787610
|
0.01793
|
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=)
|
rs35664935
|
0.01793
|
NM_000153.4(GALC):c.1072C>T (p.Leu358=)
|
rs74073730
|
0.01792
|
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=)
|
rs35663732
|
0.01790
|
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=)
|
rs34255276
|
0.01788
|
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)
|
rs78651634
|
0.01784
|
NM_003477.3(PDHX):c.531C>T (p.Pro177=)
|
rs76486106
|
0.01781
|
NM_025219.3(DNAJC5):c.*4300C>T
|
rs41278224
|
0.01781
|
NM_018834.6(MATR3):c.*1278T>C
|
rs116341961
|
0.01780
|
NM_198904.4(GABRG2):c.*1497C>T
|
rs11956247
|
0.01779
|
NM_003119.4(SPG7):c.2037G>A (p.Ala679=)
|
rs79756036
|
0.01778
|
NM_013247.5(HTRA2):c.480C>G (p.Ala160=)
|
rs2231248
|
0.01771
|
NM_015100.4(POGZ):c.4095G>T (p.Glu1365Asp)
|
rs35198305
|
0.01770
|
NM_003719.5(PDE8B):c.*1128A>G
|
rs55841084
|
0.01768
|
NM_014236.4(GNPAT):c.26C>T (p.Ser9Phe)
|
rs113480953
|
0.01765
|
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)
|
rs56298562
|
0.01760
|
NM_016955.4(SEPSECS):c.*2966A>G
|
rs115116065
|
0.01758
|
NM_000310.4(PPT1):c.124+18T>G
|
rs113394351
|
0.01757
|
NM_003659.4(AGPS):c.*552T>G
|
rs115060780
|
0.01756
|
NM_001199107.2(TBC1D24):c.1526-20C>T
|
rs114367256
|
0.01755
|
NM_017791.3(FLVCR2):c.*1040C>T
|
rs8017131
|
0.01752
|
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029
|
0.01749
|
NM_003477.3(PDHX):c.438C>T (p.Asp146=)
|
rs75182779
|
0.01749
|
NM_003477.3(PDHX):c.*123A>G
|
rs59918794
|
0.01748
|
NM_018713.3(SLC30A10):c.-54C>A
|
rs115645353
|
0.01743
|
NM_001414.4(EIF2B1):c.*49G>A
|
rs61458734
|
0.01739
|
NM_032581.4(HYCC1):c.*437G>A
|
rs78447286
|
0.01735
|
NM_032581.4(HYCC1):c.*858T>A
|
rs115040380
|
0.01735
|
NM_003070.5(SMARCA2):c.2770-7C>G
|
rs114448411
|
0.01734
|
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=)
|
rs36031537
|
0.01733
|
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=)
|
rs77280228
|
0.01731
|
NM_017791.3(FLVCR2):c.1441G>A (p.Ala481Thr)
|
rs35126362
|
0.01730
|
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)
|
rs3027928
|
0.01726
|
NM_000815.5(GABRD):c.659G>A (p.Arg220His)
|
rs41307846
|
0.01721
|
NM_001085411.3(NADK2):c.359A>G (p.Lys120Arg)
|
rs115795863
|
0.01720
|
NM_004035.7(ACOX1):c.591G>A (p.Gly197=)
|
rs75808808
|
0.01720
|
NM_001371928.1(AHDC1):c.483C>T (p.Gly161=)
|
rs112583157
|
0.01719
|
NM_001365088.1(SLC12A6):c.963C>T (p.Tyr321=)
|
rs35583475
|
0.01718
|
NM_002047.2(GARS1):c.-317G>A
|
rs116125961
|
0.01714
|
NM_017755.6(NSUN2):c.21T>C (p.Gly7=)
|
rs184594943
|
0.01714
|
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser)
|
rs72470544
|
0.01709
|
NM_001845.6(COL4A1):c.501C>T (p.Pro167=)
|
rs16975612
|
0.01708
|
NM_006070.6(TFG):c.416-9T>C
|
rs115896544
|
0.01708
|
NM_004183.4(BEST1):c.618G>A (p.Leu206=)
|
rs62641693
|
0.01704
|
NM_018723.4(RBFOX1):c.1071+3G>A
|
rs79369633
|
0.01704
|
NM_001386140.1(MTTP):c.*279C>G
|
rs115807483
|
0.01703
|
NM_004960.3(FUS):c.*989C>T
|
rs114772555
|
0.01702
|
NM_025136.4(OPA3):c.*3972C>T
|
rs147972697
|
0.01701
|
NM_001429.4(EP300):c.2499G>A (p.Ser833=)
|
rs35560602
|
0.01700
|
NM_001429.4(EP300):c.6372C>T (p.Val2124=)
|
rs34985152
|
0.01700
|
NM_001134407.3(GRIN2A):c.*6282T>A
|
rs16966252
|
0.01699
|
NM_198904.4(GABRG2):c.354G>A (p.Ala118=)
|
rs61735412
|
0.01699
|
NM_002857.4(PEX19):c.*328A>G
|
rs115260345
|
0.01698
|
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=)
|
rs5987173
|
0.01697
|
NM_138959.3(VANGL1):c.1040A>C (p.Glu347Ala)
|
rs34059106
|
0.01695
|
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=)
|
rs116353694
|
0.01695
|
NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu)
|
rs62619782
|
0.01693
|
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro)
|
rs6940875
|
0.01691
|
NM_001034116.2(EIF2B4):c.729G>A (p.Pro243=)
|
rs41288829
|
0.01685
|
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=)
|
rs34905593
|
0.01683
|
NM_000100.4(CSTB):c.*74T>C
|
rs6385
|
0.01682
|
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
NM_001374828.1(ARID1B):c.4893T>C (p.His1631=)
|
rs61747988
|
0.01682
|
NM_000368.5(TSC1):c.*1468C>T
|
rs72759433
|
0.01681
|
NM_012179.4(FBXO7):c.968-14T>G
|
rs77327421
|
0.01681
|
NM_198578.4(LRRK2):c.6844-14_6844-13insA
|
rs150964683
|
0.01681
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_001271.4(CHD2):c.4413+15C>T
|
rs74029217
|
0.01677
|
NM_014844.5(TECPR2):c.1802C>T (p.Pro601Leu)
|
rs118141823
|
0.01676
|
NM_033064.5(ATCAY):c.*2026G>A
|
rs147402942
|
0.01676
|
NM_006516.4(SLC2A1):c.-190G>C
|
rs114514007
|
0.01675
|
NM_004519.4(KCNQ3):c.*2475C>T
|
rs141143602
|
0.01668
|
NM_018319.4(TDP1):c.-230-4G>T
|
rs28365053
|
0.01666
|
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=)
|
rs34080459
|
0.01664
|
NM_007118.4(TRIO):c.6154-47G>A
|
rs62345860
|
0.01662
|
NM_145868.2(ANXA11):c.171+19C>T
|
rs12269637
|
0.01660
|
NM_005154.5(USP8):c.802T>A (p.Leu268Ile)
|
rs61751062
|
0.01657
|
NM_004813.4(PEX16):c.760G>C (p.Val254Leu)
|
rs35214605
|
0.01652
|
NM_017755.6(NSUN2):c.537+9T>C
|
rs116785933
|
0.01651
|
NM_001365088.1(SLC12A6):c.*1725G>A
|
rs76243307
|
0.01650
|
NM_003619.4(PRSS12):c.*672C>T
|
rs72919299
|
0.01650
|
NM_000925.4(PDHB):c.435= (p.Arg145=)
|
rs1438518070
|
0.01648
|
NM_001414.4(EIF2B1):c.*426G>C
|
rs113041500
|
0.01648
|
NM_015046.7(SETX):c.*1052T>A
|
rs12349210
|
0.01647
|
NM_025000.4(DCAF17):c.*3829G>A
|
rs59827170
|
0.01646
|
NM_015046.7(SETX):c.*1288T>C
|
rs72765812
|
0.01645
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_001165963.4(SCN1A):c.*1224G>A
|
rs77088538
|
0.01643
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)
|
rs17082422
|
0.01643
|
NM_020631.5(PLEKHG5):c.*765T>A
|
rs538175057
|
0.01642
|
NM_003070.5(SMARCA2):c.*620T>C
|
rs7048532
|
0.01641
|
NM_004820.5(CYP7B1):c.-89C>G
|
rs6994347
|
0.01638
|
NM_007327.4(GRIN1):c.2241G>C (p.Val747=)
|
rs116354349
|
0.01638
|
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=)
|
rs79570612
|
0.01637
|
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=)
|
rs11548642
|
0.01636
|
NM_025000.4(DCAF17):c.*2183C>G
|
rs73976170
|
0.01636
|
NM_001134831.2(AHI1):c.2624-6A>G
|
rs41288015
|
0.01635
|
NM_033064.5(ATCAY):c.*1423T>A
|
rs184437292
|
0.01635
|
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=)
|
rs76567936
|
0.01632
|
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=)
|
rs141722238
|
0.01632
|
NM_015087.5(SPART):c.*909A>G
|
rs77214733
|
0.01632
|
NM_015192.4(PLCB1):c.*1551A>G
|
rs77690948
|
0.01631
|
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met)
|
rs56214655
|
0.01630
|
NM_021625.5(TRPV4):c.387-4C>T
|
rs12305439
|
0.01630
|
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)
|
rs76947760
|
0.01629
|
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)
|
rs3007419
|
0.01628
|
NM_032776.3(JMJD1C):c.3984= (p.Arg1328=)
|
rs1904294
|
0.01628
|
NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala)
|
rs41265953
|
0.01623
|
NM_015346.4(ZFYVE26):c.5784T>C (p.Tyr1928=)
|
rs34852231
|
0.01623
|
NM_153033.5(KCTD7):c.*880T>C
|
rs117143942
|
0.01621
|
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser)
|
rs56218010
|
0.01619
|
NM_015338.6(ASXL1):c.2250C>T (p.Pro750=)
|
rs35712951
|
0.01615
|
NM_001199107.2(TBC1D24):c.*1691G>A
|
rs77858505
|
0.01614
|
NM_005045.4(RELN):c.10182-11G>A
|
rs57844600
|
0.01613
|
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser)
|
rs16990018
|
0.01612
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_015346.4(ZFYVE26):c.6987-3C>T
|
rs76728509
|
0.01610
|
NM_000021.4(PSEN1):c.1248+8T>C
|
rs362382
|
0.01609
|
NM_004738.5(VAPB):c.*4952C>T
|
rs116665485
|
0.01608
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_025136.4(OPA3):c.*7085A>G
|
rs67373144
|
0.01608
|
NM_000021.4(PSEN1):c.*3637C>T
|
rs114000457
|
0.01606
|
NM_000021.4(PSEN1):c.*3360A>G
|
rs362390
|
0.01605
|
NM_000021.4(PSEN1):c.*3525A>G
|
rs362391
|
0.01605
|
NM_000021.4(PSEN1):c.*1690T>C
|
rs10143618
|
0.01604
|
NM_000021.4(PSEN1):c.*2430T>C
|
rs362388
|
0.01604
|
NM_198904.4(GABRG2):c.328-20T>G
|
rs74810777
|
0.01604
|
NM_152296.5(ATP1A3):c.994-20T>G
|
rs138485069
|
0.01603
|
NM_012073.5(CCT5):c.437A>T (p.Glu146Val)
|
rs11557652
|
0.01601
|
NM_001846.4(COL4A2):c.*800G>A
|
rs73618180
|
0.01600
|
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val)
|
rs61749092
|
0.01599
|
NM_000021.4(PSEN1):c.*3823G>A
|
rs362394
|
0.01595
|
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=)
|
rs146575027
|
0.01595
|
NM_015100.4(POGZ):c.930A>G (p.Thr310=)
|
rs115103475
|
0.01595
|
NM_182961.4(SYNE1):c.19989T>C (p.His6663=)
|
rs61746395
|
0.01595
|
NM_001351132.2(PEX5):c.*75G>A
|
rs112966367
|
0.01593
|
NM_004715.5(CTDP1):c.492+7C>T
|
rs115851227
|
0.01593
|
NM_173354.5(SIK1):c.1554G>T (p.Ala518=)
|
rs34487963
|
0.01593
|
NM_012193.4(FZD4):c.*3700A>G
|
rs115341334
|
0.01592
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_020365.5(EIF2B3):c.1202+8T>G
|
rs77068026
|
0.01589
|
NM_006702.5(PNPLA6):c.-214C>T
|
rs141371215
|
0.01588
|
NM_012193.4(FZD4):c.*4196A>G
|
rs138561450
|
0.01587
|
NM_012193.4(FZD4):c.*5368C>T
|
rs79807722
|
0.01583
|
NM_000726.5(CACNB4):c.1116+18T>C
|
rs115324887
|
0.01581
|
NM_013275.6(ANKRD11):c.6084C>T (p.Pro2028=)
|
rs189297725
|
0.01580
|
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)
|
rs7808770
|
0.01578
|
NM_017929.5(PEX26):c.-148C>T
|
rs115617644
|
0.01576
|
NM_001358451.3(ABHD18):c.-18+315C>G
|
rs74561222
|
0.01575
|
NM_001371596.2(MFSD8):c.*1794G>T
|
rs79783621
|
0.01573
|
NM_004519.4(KCNQ3):c.*7413G>C
|
rs111267263
|
0.01573
|
NM_003719.5(PDE8B):c.552T>C (p.His184=)
|
rs971647
|
0.01569
|
NM_001199107.2(TBC1D24):c.*3712C>T
|
rs185371000
|
0.01568
|
NM_001846.4(COL4A2):c.*695T>C
|
rs11555634
|
0.01568
|
NM_006493.4(CLN5):c.*158C>G
|
rs111327761
|
0.01567
|
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln)
|
rs77890266
|
0.01561
|
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=)
|
rs115594471
|
0.01560
|
NM_015046.7(SETX):c.*849G>T
|
rs74975459
|
0.01559
|
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=)
|
rs3750333
|
0.01558
|
NM_213720.3(CHCHD10):c.42-7C>G
|
rs567239313
|
0.01558
|
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His)
|
rs11549840
|
0.01556
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_001854.4(COL11A1):c.651+16A>G
|
rs116303092
|
0.01555
|
NM_014855.3(AP5Z1):c.*1594C>A
|
rs138654444
|
0.01555
|
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser)
|
rs77121899
|
0.01555
|
NM_198578.4(LRRK2):c.1182-4A>G
|
rs7135747
|
0.01555
|
NM_005359.6(SMAD4):c.*5170C>T
|
rs117142232
|
0.01554
|
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=)
|
rs117666541
|
0.01551
|
NM_020708.5(SLC12A5):c.2100= (p.Ala700=)
|
rs6032635
|
0.01551
|
NM_001429.4(EP300):c.3426C>T (p.Cys1142=)
|
rs76268515
|
0.01549
|
NM_001257180.2(SLC20A2):c.*380C>T
|
rs72643203
|
0.01547
|
NM_001205293.3(CACNA1E):c.4605+12A>C
|
rs9662282
|
0.01546
|
NM_005045.4(RELN):c.8950+16G>A
|
rs76565991
|
0.01546
|
NM_004975.4(KCNB1):c.1847C>G (p.Thr616Ser)
|
rs2229006
|
0.01543
|
NM_001365999.1(SZT2):c.5535T>G (p.Ser1845Arg)
|
rs114759137
|
0.01542
|
NM_173728.4(ARHGEF15):c.217C>T (p.Pro73Ser)
|
rs9890841
|
0.01541
|
NM_001077350.3(NPRL3):c.550A>C (p.Asn184His)
|
rs73478320
|
0.01540
|
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)
|
rs79577461
|
0.01539
|
NM_018026.4(PACS1):c.957C>G (p.Thr319=)
|
rs76179533
|
0.01539
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)
|
rs55793208
|
0.01529
|
NM_205836.3(FBXO38):c.198A>G (p.Leu66=)
|
rs74863106
|
0.01529
|
NM_000286.3(PEX12):c.*636T>C
|
rs111424374
|
0.01528
|
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr)
|
rs63750612
|
0.01528
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_198586.3(NHLRC1):c.*237T>C
|
rs73379118
|
0.01527
|
NM_000286.3(PEX12):c.*297T>C
|
rs113891712
|
0.01526
|
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=)
|
rs61753726
|
0.01526
|
NM_198586.3(NHLRC1):c.*85T>A
|
rs73379121
|
0.01526
|
NM_000021.4(PSEN1):c.*4147T>G
|
rs362396
|
0.01523
|
NM_002047.4(GARS1):c.1761G>A (p.Thr587=)
|
rs3886641
|
0.01523
|
NM_006087.4(TUBB4A):c.921C>T (p.His307=)
|
rs118102196
|
0.01521
|
NM_001130438.3(SPTAN1):c.5085= (p.Leu1695=)
|
rs1415568
|
0.01520
|
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu)
|
rs34870395
|
0.01518
|
NM_025000.4(DCAF17):c.*1005A>G
|
rs73976168
|
0.01517
|
NM_003659.4(AGPS):c.*1106A>T
|
rs116688077
|
0.01515
|
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)
|
rs35964044
|
0.01515
|
NM_014365.3(HSPB8):c.552C>T (p.Asn184=)
|
rs112052602
|
0.01515
|
NM_025000.4(DCAF17):c.*3712A>G
|
rs74780004
|
0.01515
|
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)
|
rs72552054
|
0.01514
|
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=)
|
rs78426988
|
0.01512
|
NM_183075.3(CYP2U1):c.490+6C>T
|
rs147612190
|
0.01512
|
NM_153033.4(KCTD7):c.*3961C>T
|
rs144713969
|
0.01510
|
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=)
|
rs111358719
|
0.01503
|
NM_004960.3(FUS):c.*1420C>T
|
rs73530295
|
0.01500
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=)
|
rs130003
|
0.01499
|
NM_018026.4(PACS1):c.102G>A (p.Pro34=)
|
rs75352646
|
0.01498
|
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_016373.4(WWOX):c.108-12del
|
rs149533117
|
0.01497
|
NM_003659.4(AGPS):c.1173C>G (p.Gly391=)
|
rs115580413
|
0.01496
|
NM_004960.4(FUS):c.1156C>A (p.Arg386=)
|
rs61733965
|
0.01496
|
NM_004960.4(FUS):c.524-5C>T
|
rs73530287
|
0.01495
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_152564.5(VPS13B):c.9330+10T>A
|
rs75904081
|
0.01493
|
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala)
|
rs3025962
|
0.01491
|
NM_001288705.3(CSF1R):c.1626+12C>T
|
rs116168767
|
0.01490
|
NM_013275.6(ANKRD11):c.1020G>A (p.Thr340=)
|
rs142539117
|
0.01490
|
NM_000702.4(ATP1A2):c.*703G>A
|
rs57902482
|
0.01488
|
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile)
|
rs11570605
|
0.01488
|
NM_005359.6(SMAD4):c.*5083G>A
|
rs145596898
|
0.01488
|
NM_015338.6(ASXL1):c.374-9C>T
|
rs6087903
|
0.01488
|
NM_015192.4(PLCB1):c.924A>G (p.Ser308=)
|
rs6056003
|
0.01487
|
NM_000702.4(ATP1A2):c.*1284C>T
|
rs78507938
|
0.01486
|
NM_001110792.2(MECP2):c.414-74C>T
|
rs2071569
|
0.01484
|
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=)
|
rs34030799
|
0.01484
|
NM_017791.3(FLVCR2):c.*1098C>A
|
rs8017287
|
0.01484
|
NM_006612.6(KIF1C):c.1293G>A (p.Thr431=)
|
rs35919356
|
0.01482
|
NM_018026.4(PACS1):c.2061T>A (p.Ser687=)
|
rs572697
|
0.01482
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_001365999.1(SZT2):c.2929+9G>A
|
rs114863461
|
0.01479
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)
|
rs28567406
|
0.01478
|
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val)
|
rs36105360
|
0.01478
|
NM_012193.4(FZD4):c.*3574C>T
|
rs78806773
|
0.01478
|
NM_006070.6(TFG):c.945G>A (p.Pro315=)
|
rs61736338
|
0.01477
|
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu)
|
rs144601717
|
0.01477
|
NM_000030.3(AGXT):c.705G>A (p.Thr235=)
|
rs35977912
|
0.01476
|
NM_000044.6(AR):c.2450-44G>A
|
rs5031002
|
0.01476
|
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=)
|
rs111744086
|
0.01476
|
NM_001083614.2(EARS2):c.*1498A>G
|
rs113477773
|
0.01470
|
NM_006612.6(KIF1C):c.2987G>A (p.Ser996Asn)
|
rs115332491
|
0.01470
|
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)
|
rs35635889
|
0.01470
|
NM_198578.4(LRRK2):c.4317+12del
|
rs200829235
|
0.01470
|
NM_001083614.2(EARS2):c.*1388C>T
|
rs11864511
|
0.01468
|
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)
|
rs34217273
|
0.01468
|
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)
|
rs114201291
|
0.01466
|
NM_000108.5(DLD):c.*855C>T
|
rs116055514
|
0.01464
|
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)
|
rs58909326
|
0.01464
|
NM_013275.6(ANKRD11):c.2039C>G (p.Thr680Ser)
|
rs145694621
|
0.01463
|
NM_152722.5(HEPACAM):c.*50C>G
|
rs192160991
|
0.01463
|
NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=)
|
rs11544971
|
0.01462
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
NM_001134407.3(GRIN2A):c.*5776A>T
|
rs78296872
|
0.01461
|
NM_025136.4(OPA3):c.*6275T>C
|
rs74689727
|
0.01461
|
NM_015046.7(SETX):c.*1224G>C
|
rs10491906
|
0.01458
|
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=)
|
rs17081163
|
0.01458
|
NM_001077350.3(NPRL3):c.180C>T (p.Gly60=)
|
rs75187722
|
0.01456
|
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val)
|
rs17318151
|
0.01456
|
NM_001909.5(CTSD):c.*300G>A
|
rs113940256
|
0.01455
|
NM_144599.5(NIPA1):c.*1405G>C
|
rs7181585
|
0.01455
|
NM_198586.3(NHLRC1):c.*276G>C
|
rs11966748
|
0.01453
|
NM_033064.5(ATCAY):c.*1235T>C
|
rs148116098
|
0.01449
|
NM_000096.4(CP):c.1099C>T (p.Arg367Cys)
|
rs34624984
|
0.01447
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile)
|
rs61731383
|
0.01447
|
NM_020822.3(KCNT1):c.3502+16G>A
|
rs112116686
|
0.01447
|
NM_000096.4(CP):c.1209-15T>A
|
rs35465173
|
0.01446
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=)
|
rs34748547
|
0.01444
|
NM_000447.3(PSEN2):c.441C>T (p.Ser147=)
|
rs114334281
|
0.01441
|
NM_002778.4(PSAP):c.*775G>A
|
rs79662404
|
0.01440
|
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg)
|
rs35220041
|
0.01440
|
NM_004813.4(PEX16):c.*158A>C
|
rs79435202
|
0.01440
|
NM_173728.4(ARHGEF15):c.1827A>G (p.Glu609=)
|
rs35204656
|
0.01440
|
NM_006267.5(RANBP2):c.8600-14G>T
|
rs57063709
|
0.01439
|
NM_016955.4(SEPSECS):c.*3848C>T
|
rs111294195
|
0.01439
|
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)
|
rs35242963
|
0.01438
|
NM_015192.4(PLCB1):c.2199G>A (p.Val733=)
|
rs8118206
|
0.01438
|
NM_015166.4(MLC1):c.*970G>C
|
rs117474715
|
0.01437
|
NM_031448.6(C19orf12):c.*2186C>T
|
rs73548135
|
0.01436
|
NM_018834.6(MATR3):c.1602+6A>G
|
rs80036770
|
0.01434
|
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)
|
rs58973334
|
0.01433
|
NM_006950.3(SYN1):c.912C>T (p.Ala304=)
|
rs62636605
|
0.01433
|
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp)
|
rs35749032
|
0.01431
|
NM_012193.4(FZD4):c.*1932G>C
|
rs77424184
|
0.01431
|
NM_006267.5(RANBP2):c.1064-13A>T
|
rs192629843
|
0.01429
|
NM_020822.3(KCNT1):c.2943+6C>T
|
rs28612938
|
0.01429
|
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp)
|
rs147979536
|
0.01429
|
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)
|
rs116297894
|
0.01425
|
NM_020944.3(GBA2):c.1267G>A (p.Gly423Ser)
|
rs79325774
|
0.01424
|
NM_001134407.3(GRIN2A):c.*490G>A
|
rs9937910
|
0.01423
|
NM_003924.4(PHOX2B):c.*1381C>T
|
rs59260453
|
0.01423
|
NM_000318.3(PEX2):c.550= (p.Cys184=)
|
rs10087163
|
0.01422
|
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=)
|
rs16044
|
0.01420
|
NM_004519.4(KCNQ3):c.1700+3G>A
|
rs115092422
|
0.01419
|
NM_020365.5(EIF2B3):c.975+9A>G
|
rs79174967
|
0.01419
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys)
|
rs61748794
|
0.01418
|
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys)
|
rs62000389
|
0.01415
|
NM_152743.4(BRAT1):c.1206C>T (p.Asp402=)
|
rs7807895
|
0.01413
|
NM_001244008.2(KIF1A):c.183+15C>T
|
rs73102676
|
0.01412
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
NM_198994.3(TGM6):c.989+11C>T
|
rs6048684
|
0.01409
|
NM_012193.4(FZD4):c.502C>T (p.Pro168Ser)
|
rs61735303
|
0.01408
|
NM_020247.5(COQ8A):c.-10+8T>C
|
rs145688619
|
0.01402
|
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=)
|
rs16983426
|
0.01400
|
NM_000368.5(TSC1):c.*1785A>G
|
rs74362385
|
0.01398
|
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=)
|
rs149573400
|
0.01397
|
NM_032603.5(LOXL3):c.*90T>C
|
rs114661282
|
0.01397
|
NM_001085411.3(NADK2):c.632G>A (p.Arg211His)
|
rs138373837
|
0.01396
|
NM_001032221.6(STXBP1):c.663+17C>T
|
rs140247913
|
0.01395
|
NM_033305.3(VPS13A):c.*1186A>G
|
rs3177
|
0.01392
|
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)
|
rs34569226
|
0.01390
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_001385875.1(ZFYVE27):c.*733A>G
|
rs74809305
|
0.01385
|
NM_003793.4(CTSF):c.418G>A (p.Ala140Thr)
|
rs79274952
|
0.01384
|
NM_001242896.3(DEPDC5):c.4512C>T (p.His1504=)
|
rs146449468
|
0.01383
|
NM_032776.3(JMJD1C):c.814G>A (p.Ala272Thr)
|
rs34798625
|
0.01383
|
NM_016042.4(EXOSC3):c.*197C>T
|
rs117073203
|
0.01382
|
NM_001854.4(COL11A1):c.2611-4C>T
|
rs79505593
|
0.01381
|
NM_020631.5(PLEKHG5):c.*1313C>T
|
rs45574533
|
0.01380
|
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=)
|
rs77393809
|
0.01379
|
NM_005149.3(TBX19):c.*186G>A
|
rs10918869
|
0.01378
|
NM_016630.7(SPG21):c.843C>T (p.Tyr281=)
|
rs147428832
|
0.01378
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=)
|
rs5985637
|
0.01375
|
NM_002857.4(PEX19):c.879T>C (p.Gly293=)
|
rs74125561
|
0.01375
|
NM_006493.4(CLN5):c.*1132A>G
|
rs80200123
|
0.01375
|
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=)
|
rs149815494
|
0.01375
|
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=)
|
rs73466058
|
0.01375
|
NM_198578.4(LRRK2):c.3778-9C>T
|
rs114948984
|
0.01375
|
NM_004168.4(SDHA):c.1776T>C (p.His592=)
|
rs1126538
|
0.01372
|
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=)
|
rs73714404
|
0.01371
|
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=)
|
rs12301486
|
0.01369
|
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn)
|
rs73467962
|
0.01369
|
NM_203446.3(SYNJ1):c.3915+5G>T
|
rs61750220
|
0.01369
|
NM_015272.5(RPGRIP1L):c.2959-15T>C
|
rs11863101
|
0.01368
|
NM_002156.5(HSPD1):c.428-10G>A
|
rs111401572
|
0.01367
|
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys)
|
rs11549839
|
0.01367
|
NM_004565.3(PEX14):c.513C>A (p.Ala171=)
|
rs35046754
|
0.01363
|
NM_001844.5(COL2A1):c.1266+7G>A
|
rs41317915
|
0.01359
|
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)
|
rs141736123
|
0.01357
|
NM_018718.3(CEP41):c.*3507C>T
|
rs149385617
|
0.01355
|
NM_007126.5(VCP):c.18-5T>C
|
rs114256093
|
0.01353
|
NM_006267.5(RANBP2):c.2559T>A (p.Asp853Glu)
|
rs148999619
|
0.01352
|
NM_001134407.3(GRIN2A):c.*8077T>G
|
rs16966243
|
0.01351
|
NM_014249.4(NR2E3):c.505C>T (p.Leu169=)
|
rs1805022
|
0.01351
|
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr)
|
rs59650398
|
0.01351
|
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=)
|
rs74667788
|
0.01349
|
NM_178138.6(LHX3):c.454+3C>T
|
rs34356735
|
0.01349
|
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg)
|
rs115244417
|
0.01348
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=)
|
rs73654012
|
0.01345
|
NM_003001.5(SDHC):c.-32T>C
|
rs115782155
|
0.01342
|
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=)
|
rs113987077
|
0.01342
|
NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=)
|
rs7551930
|
0.01341
|
NM_020365.4(EIF2B3):c.-181A>T
|
rs116616332
|
0.01341
|
NM_001182.5(ALDH7A1):c.*1804C>T
|
rs744723
|
0.01339
|
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)
|
rs12478318
|
0.01339
|
NM_001379500.1(COL18A1):c.1509C>T (p.Gly503=)
|
rs112723616
|
0.01339
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_173728.4(ARHGEF15):c.1278G>A (p.Val426=)
|
rs8067778
|
0.01338
|
NM_005076.5(CNTN2):c.391+12G>A
|
rs16855012
|
0.01337
|
NM_001244008.2(KIF1A):c.2859-18G>A
|
rs150076186
|
0.01335
|
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=)
|
rs34630198
|
0.01334
|
NM_001927.4(DES):c.*662G>A
|
rs116635264
|
0.01332
|
NM_017755.6(NSUN2):c.*50T>G
|
rs56282400
|
0.01331
|
NM_153033.5(KCTD7):c.654C>T (p.Asp218=)
|
rs117194263
|
0.01331
|
NM_001242896.3(DEPDC5):c.2481G>A (p.Pro827=)
|
rs61731664
|
0.01330
|
NM_025219.3(DNAJC5):c.*3670A>G
|
rs77107548
|
0.01329
|
NM_000170.3(GLDC):c.1815C>T (p.Leu605=)
|
rs74461075
|
0.01328
|
NM_021830.5(TWNK):c.*204G>A
|
rs61871507
|
0.01328
|
NM_006721.4(ADK):c.727-11T>C
|
rs12778270
|
0.01325
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
NM_000370.3(TTPA):c.*1404G>A
|
rs56675911
|
0.01322
|
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)
|
rs4369876
|
0.01322
|
NM_018834.6(MATR3):c.*1535A>G
|
rs111689401
|
0.01322
|
NM_014324.6(AMACR):c.782T>C (p.Met261Thr)
|
rs3195678
|
0.01320
|
NM_004385.5(VCAN):c.5155A>T (p.Thr1719Ser)
|
rs113965318
|
0.01319
|
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=)
|
rs73449933
|
0.01319
|
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)
|
rs112732576
|
0.01318
|
NM_001429.4(EP300):c.2131+17A>T
|
rs113214815
|
0.01318
|
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly)
|
rs187134574
|
0.01317
|
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)
|
rs17721059
|
0.01316
|
NM_004385.5(VCAN):c.5576C>A (p.Ala1859Glu)
|
rs34050047
|
0.01316
|
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr)
|
rs117065412
|
0.01316
|
NM_001032221.6(STXBP1):c.38-3T>C
|
rs138763389
|
0.01315
|
NM_007055.4(POLR3A):c.*1853C>T
|
rs11002351
|
0.01315
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_004115.4(FGF14):c.481T>C (p.Leu161=)
|
rs77082831
|
0.01311
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_198578.4(LRRK2):c.5509+20A>C
|
rs11564134
|
0.01309
|
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=)
|
rs114294066
|
0.01308
|
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)
|
rs78196225
|
0.01307
|
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=)
|
rs73098087
|
0.01305
|
NM_002087.4(GRN):c.55C>T (p.Arg19Trp)
|
rs63750723
|
0.01303
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)
|
rs116758271
|
0.01300
|
NM_004385.5(VCAN):c.*1603T>C
|
rs10233
|
0.01297
|
NM_000447.3(PSEN2):c.*487G>C
|
rs7962
|
0.01294
|
NM_001008212.2(OPTN):c.*269C>T
|
rs111484304
|
0.01294
|
NM_001160148.2(DDHD1):c.136G>A (p.Gly46Ser)
|
rs61985140
|
0.01292
|
NM_003072.5(SMARCA4):c.1419+8C>T
|
rs115492175
|
0.01292
|
NM_006267.5(RANBP2):c.8253= (p.Glu2751=)
|
rs826580
|
0.01292
|
NM_001122955.4(BSCL2):c.88-662C>A
|
rs117597269
|
0.01291
|
NM_001165963.4(SCN1A):c.*1653C>T
|
rs79971813
|
0.01291
|
NM_001242896.3(DEPDC5):c.3696+18G>A
|
rs9621356
|
0.01290
|
NM_152296.5(ATP1A3):c.*106T>C
|
rs180885057
|
0.01288
|
NM_001134407.3(GRIN2A):c.*9517T>C
|
rs16966242
|
0.01287
|
NM_004082.5(DCTN1):c.1288-3C>T
|
rs72466490
|
0.01285
|
NM_006397.3(RNASEH2A):c.*120C>T
|
rs73925216
|
0.01285
|
NM_001134407.3(GRIN2A):c.*9692A>G
|
rs58340432
|
0.01284
|
NM_014946.4(SPAST):c.*256A>G
|
rs6730400
|
0.01284
|
NM_173728.4(ARHGEF15):c.1574+11C>T
|
rs113936293
|
0.01284
|
NM_004385.5(VCAN):c.6123C>T (p.Ile2041=)
|
rs113659987
|
0.01282
|
NM_021098.3(CACNA1H):c.546-10C>T
|
rs35509671
|
0.01282
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_020247.5(COQ8A):c.63G>A (p.Ala21=)
|
rs11549709
|
0.01280
|
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=)
|
rs191613214
|
0.01279
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
NM_173728.4(ARHGEF15):c.570C>T (p.Thr190=)
|
rs62637603
|
0.01279
|
NM_001097577.3(ANG):c.363A>T (p.Thr121=)
|
rs2228653
|
0.01278
|
NM_001127649.3(PEX26):c.*464A>G
|
rs141229564
|
0.01278
|
NM_004385.5(VCAN):c.6237G>A (p.Lys2079=)
|
rs80200229
|
0.01278
|
NM_012193.4(FZD4):c.*203A>G
|
rs3740661
|
0.01278
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_018718.3(CEP41):c.*3765G>T
|
rs138768326
|
0.01276
|
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp)
|
rs33995883
|
0.01276
|
NM_001271.4(CHD2):c.3413+16G>A
|
rs114892796
|
0.01273
|
NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser)
|
rs112735799
|
0.01273
|
NM_003730.6(RNASET2):c.426C>T (p.Tyr142=)
|
rs34346305
|
0.01272
|
NM_005154.5(USP8):c.400C>T (p.Leu134=)
|
rs114541731
|
0.01271
|
NM_001414.4(EIF2B1):c.*258A>G
|
rs77672690
|
0.01269
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
NM_000484.4(APP):c.1299+9T>C
|
rs114675472
|
0.01268
|
NM_025219.3(DNAJC5):c.*4117C>T
|
rs11554630
|
0.01268
|
NM_000817.3(GAD1):c.*1008C>T
|
rs769399
|
0.01267
|
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=)
|
rs34376836
|
0.01265
|
NM_005076.5(CNTN2):c.178G>A (p.Ala60Thr)
|
rs12076297
|
0.01264
|
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln)
|
rs111282915
|
0.01262
|
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=)
|
rs116321373
|
0.01259
|
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=)
|
rs61739752
|
0.01259
|
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=)
|
rs35986650
|
0.01258
|
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=)
|
rs56229264
|
0.01257
|
NM_001257180.2(SLC20A2):c.290-13C>A
|
rs114824268
|
0.01256
|
NM_001365999.1(SZT2):c.348C>A (p.Ile116=)
|
rs41312024
|
0.01256
|
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=)
|
rs45568037
|
0.01255
|
NM_003119.4(SPG7):c.9G>T (p.Val3=)
|
rs553241838
|
0.01255
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_001110556.2(FLNA):c.4598+8G>C
|
rs112379782
|
0.01252
|
NM_001182.5(ALDH7A1):c.*1112T>G
|
rs80345302
|
0.01252
|
NM_004068.4(AP2M1):c.565+17G>A
|
rs2231219
|
0.01250
|
NM_006946.4(SPTBN2):c.2473= (p.Ser825=)
|
rs4930388
|
0.01249
|
NM_003265.3(TLR3):c.1677G>A (p.Lys559=)
|
rs35617964
|
0.01248
|
NM_001182.5(ALDH7A1):c.*1672A>G
|
rs78029541
|
0.01247
|
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met)
|
rs61744696
|
0.01246
|
NM_001127649.3(PEX26):c.*10C>T
|
rs117472525
|
0.01244
|
NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=)
|
rs17215458
|
0.01243
|
NM_004960.4(FUS):c.-39A>G
|
rs67676356
|
0.01242
|
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)
|
rs113247976
|
0.01241
|
NM_152415.3(VPS37A):c.316-17T>C
|
rs117165264
|
0.01240
|
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_005045.4(RELN):c.6671+8T>C
|
rs362758
|
0.01237
|
NM_014043.4(CHMP2B):c.-102C>T
|
rs36098294
|
0.01237
|
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile)
|
rs11122266
|
0.01237
|
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His)
|
rs145911138
|
0.01237
|
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser)
|
rs61735304
|
0.01236
|
NM_015046.7(SETX):c.*351G>T
|
rs117409290
|
0.01236
|
NM_018026.4(PACS1):c.1199+16T>C
|
rs61890329
|
0.01236
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
NM_006950.3(SYN1):c.838-8T>G
|
rs12394306
|
0.01234
|
NM_000108.5(DLD):c.675T>C (p.Gly225=)
|
rs73726765
|
0.01233
|
NM_001182.5(ALDH7A1):c.*1741T>A
|
rs744720
|
0.01233
|
NM_016373.4(WWOX):c.351C>G (p.Leu117=)
|
rs34944716
|
0.01231
|
NM_033305.3(VPS13A):c.7806+6A>G
|
rs74810255
|
0.01231
|
NM_001134407.3(GRIN2A):c.*6444G>A
|
rs149410193
|
0.01230
|
NM_001044385.3(TMEM237):c.-12G>A
|
rs113186360
|
0.01229
|
NM_014236.4(GNPAT):c.-84C>T
|
rs112452735
|
0.01229
|
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)
|
rs115977487
|
0.01228
|
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=)
|
rs72549428
|
0.01228
|
NM_015346.4(ZFYVE26):c.*1768C>T
|
rs57048278
|
0.01228
|
NM_025136.4(OPA3):c.*1340C>T
|
rs12104391
|
0.01224
|
NM_000170.3(GLDC):c.2203-19G>A
|
rs13440229
|
0.01223
|
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys)
|
rs115477764
|
0.01222
|
NM_000391.4(TPP1):c.*71G>A
|
rs140680586
|
0.01221
|
NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
0.01221
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_001034116.2(EIF2B4):c.1233C>T (p.Asn411=)
|
rs1058065
|
0.01220
|
NM_014845.5(FIG4):c.-182G>A
|
rs55873083
|
0.01220
|
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=)
|
rs34778200
|
0.01220
|
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)
|
rs16012
|
0.01217
|
NM_002693.3(POLG):c.3482+44G>A
|
rs3176228
|
0.01216
|
NM_004082.5(DCTN1):c.34-11G>T
|
rs73948789
|
0.01216
|
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)
|
rs41276894
|
0.01215
|
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr)
|
rs115640958
|
0.01215
|
NM_001205293.3(CACNA1E):c.6567C>T (p.Ser2189=)
|
rs34942364
|
0.01214
|
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)
|
rs1793940
|
0.01213
|
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile)
|
rs75130619
|
0.01213
|
NM_001182.5(ALDH7A1):c.*1368A>T
|
rs115645125
|
0.01210
|
NM_001329943.3(KIAA0586):c.2060-3T>C
|
rs17094553
|
0.01209
|
NM_003619.4(PRSS12):c.1272T>G (p.Val424=)
|
rs2292598
|
0.01208
|
NM_000368.5(TSC1):c.-129A>T
|
rs116951280
|
0.01206
|
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
|
rs41564016
|
0.01204
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=)
|
rs58812334
|
0.01201
|
NM_198859.4(PRICKLE2):c.-68G>A
|
rs150393747
|
0.01201
|
NM_002778.4(PSAP):c.-10A>G
|
rs76455588
|
0.01197
|
NM_014236.4(GNPAT):c.1479C>T (p.Ser493=)
|
rs35033351
|
0.01197
|
NM_015192.4(PLCB1):c.178-15G>A
|
rs6055775
|
0.01196
|
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val)
|
rs35667974
|
0.01195
|
NM_018075.5(ANO10):c.627T>C (p.Ala209=)
|
rs61742945
|
0.01193
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
NM_001008212.2(OPTN):c.-255C>G
|
rs2580915
|
0.01192
|
NM_001352514.2(HLCS):c.331-7111G>A
|
rs77067023
|
0.01191
|
NM_013275.6(ANKRD11):c.372G>A (p.Thr124=)
|
rs34016116
|
0.01190
|
NM_152296.5(ATP1A3):c.2264-16C>T
|
rs149116776
|
0.01189
|
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=)
|
rs115369860
|
0.01189
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)
|
rs35145938
|
0.01185
|
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr)
|
rs35400360
|
0.01182
|
NM_002693.3(POLG):c.3643+48A>G
|
rs2307454
|
0.01182
|
NM_198578.4(LRRK2):c.867C>T (p.Asn289=)
|
rs17490713
|
0.01182
|
NM_018489.3(ASH1L):c.4200C>T (p.Tyr1400=)
|
rs112530764
|
0.01179
|
NM_182961.4(SYNE1):c.10145+18C>G
|
rs79796456
|
0.01179
|
NM_032409.3(PINK1):c.1173T>C (p.Asp391=)
|
rs45499398
|
0.01177
|
NM_001242896.3(DEPDC5):c.2742G>A (p.Glu914=)
|
rs118001924
|
0.01176
|
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)
|
rs55689103
|
0.01176
|
NM_000368.5(TSC1):c.*2418G>A
|
rs114415181
|
0.01175
|
NM_001845.6(COL4A1):c.1000-13C>G
|
rs115358624
|
0.01174
|
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly)
|
rs35763277
|
0.01174
|
NM_006516.4(SLC2A1):c.19-207T>C
|
rs41310434
|
0.01173
|
NM_020247.5(COQ8A):c.*133G>A
|
rs149820067
|
0.01173
|
NM_000081.4(LYST):c.9C>T (p.Thr3=)
|
rs33998267
|
0.01172
|
NM_004268.5(MED17):c.1482A>G (p.Gln494=)
|
rs34380494
|
0.01172
|
NM_015158.5(KANK1):c.624C>G (p.Ala208=)
|
rs116178720
|
0.01172
|
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe)
|
rs78141380
|
0.01170
|
NM_173500.4(TTBK2):c.3669C>T (p.His1223=)
|
rs74398902
|
0.01170
|
NM_003119.4(SPG7):c.881G>A (p.Arg294His)
|
rs115661328
|
0.01169
|
NM_020919.4(ALS2):c.*447G>A
|
rs3219173
|
0.01169
|
NM_016955.4(SEPSECS):c.*681A>C
|
rs76926200
|
0.01167
|
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=)
|
rs77070978
|
0.01166
|
NM_025136.4(OPA3):c.*2469G>A
|
rs115566341
|
0.01165
|
NM_001083614.2(EARS2):c.*2294T>C
|
rs8046938
|
0.01163
|
NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg)
|
rs34127289
|
0.01163
|
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln)
|
rs75933366
|
0.01162
|
NM_033343.4(LHX4):c.*97T>G
|
rs145063714
|
0.01162
|
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=)
|
rs113264142
|
0.01159
|
NM_024665.7(TBL1XR1):c.1416+14A>G
|
rs144060569
|
0.01159
|
NM_012193.4(FZD4):c.*4775C>T
|
rs61903831
|
0.01158
|
NM_001134407.3(GRIN2A):c.*2975G>A
|
rs115979840
|
0.01156
|
NM_005154.5(USP8):c.3038+16T>G
|
rs116360546
|
0.01156
|
NM_006946.4(SPTBN2):c.885+5T>C
|
rs114331192
|
0.01156
|
NM_020631.6(PLEKHG5):c.795+8G>A
|
rs114275646
|
0.01154
|
NM_032737.4(LMNB2):c.1590+14C>T
|
rs115439379
|
0.01154
|
NM_001379500.1(COL18A1):c.1009G>A (p.Gly337Ser)
|
rs76547444
|
0.01152
|
NM_001134407.3(GRIN2A):c.*9632T>A
|
rs114596802
|
0.01151
|
NM_030930.4(UNC93B1):c.1163C>T (p.Ala388Val)
|
rs11543208
|
0.01149
|
NM_020988.3(GNAO1):c.993C>T (p.Asn331=)
|
rs116862304
|
0.01146
|
NM_014845.6(FIG4):c.*7C>T
|
rs113946190
|
0.01145
|
NM_025136.4(OPA3):c.*1760C>T
|
rs75401979
|
0.01143
|
NM_152743.4(BRAT1):c.1726G>A (p.Gly576Ser)
|
rs61740320
|
0.01143
|
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)
|
rs113450177
|
0.01140
|
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=)
|
rs115275192
|
0.01140
|
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val)
|
rs75824519
|
0.01140
|
NM_005591.4(MRE11):c.*183G>A
|
rs13447745
|
0.01140
|
NM_005045.4(RELN):c.9714C>T (p.His3238=)
|
rs78218774
|
0.01139
|
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg)
|
rs35632616
|
0.01138
|
NM_018941.4(CLN8):c.274C>T (p.His92Tyr)
|
rs34030778
|
0.01138
|
NM_001330260.2(SCN8A):c.4795+11T>C
|
rs143139673
|
0.01136
|
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=)
|
rs61741506
|
0.01135
|
NM_015294.6(TRIM37):c.861-6C>T
|
rs145324030
|
0.01135
|
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His)
|
rs61750053
|
0.01134
|
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=)
|
rs60039430
|
0.01134
|
NM_033064.5(ATCAY):c.*1190G>A
|
rs143684746
|
0.01134
|
NM_000368.5(TSC1):c.*4057G>A
|
rs17149898
|
0.01133
|
NM_001083614.2(EARS2):c.*715G>A
|
rs74014930
|
0.01133
|
NM_015294.6(TRIM37):c.1264T>C (p.Leu422=)
|
rs74586224
|
0.01133
|
NM_004738.5(VAPB):c.*6182C>T
|
rs76708676
|
0.01132
|
NM_020631.5(PLEKHG5):c.*843G>T
|
rs12735472
|
0.01132
|
NM_001379500.1(COL18A1):c.126G>A (p.Val42=)
|
rs115800039
|
0.01130
|
NM_005591.4(MRE11):c.1994+10G>A
|
rs1805366
|
0.01130
|
NM_015166.4(MLC1):c.*1773G>C
|
rs80312581
|
0.01130
|
NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr)
|
rs58036849
|
0.01129
|
NM_012193.4(FZD4):c.*2660C>T
|
rs11234890
|
0.01129
|
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys)
|
rs115454162
|
0.01129
|
NM_025243.4(SLC19A3):c.979+19A>G
|
rs112669453
|
0.01129
|
NM_000489.6(ATRX):c.288A>G (p.Lys96=)
|
rs45574238
|
0.01127
|
NM_015166.4(MLC1):c.*1334G>A
|
rs2294382
|
0.01127
|
NM_002618.4(PEX13):c.*1652G>A
|
rs72877535
|
0.01126
|
NM_006030.4(CACNA2D2):c.1773+20_1773+21del
|
rs143466427
|
0.01126
|
NM_005359.6(SMAD4):c.*2122A>G
|
rs149424787
|
0.01125
|
NM_001371928.1(AHDC1):c.832C>T (p.Pro278Ser)
|
rs75930951
|
0.01124
|
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr)
|
rs61756301
|
0.01123
|
NM_004519.4(KCNQ3):c.*1383C>T
|
rs146987908
|
0.01123
|
NM_006070.6(TFG):c.552G>A (p.Ala184=)
|
rs35648279
|
0.01123
|
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=)
|
rs55960450
|
0.01121
|
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser)
|
rs190271845
|
0.01118
|
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg)
|
rs72913293
|
0.01118
|
NM_015294.6(TRIM37):c.2512G>A (p.Val838Ile)
|
rs7222388
|
0.01118
|
NM_003265.3(TLR3):c.2209T>A (p.Ser737Thr)
|
rs5743318
|
0.01116
|
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp)
|
rs76658745
|
0.01115
|
NM_004168.4(SDHA):c.822C>T (p.Gly274=)
|
rs34771391
|
0.01114
|
NM_025136.4(OPA3):c.*4794C>T
|
rs114917731
|
0.01114
|
NM_003265.3(TLR3):c.919T>G (p.Tyr307Asp)
|
rs5743317
|
0.01113
|
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=)
|
rs35125534
|
0.01112
|
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
|
rs117217073
|
0.01112
|
NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=)
|
rs61733181
|
0.01110
|
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)
|
rs189089167
|
0.01110
|
NM_003119.4(SPG7):c.2295C>T (p.Asp765=)
|
rs61747712
|
0.01110
|
NM_001378969.1(KCND3):c.1519-4G>T
|
rs72548732
|
0.01109
|
NM_000310.4(PPT1):c.*456A>G
|
rs76250039
|
0.01107
|
NM_024989.4(PGAP1):c.860+12C>A
|
rs79169433
|
0.01104
|
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)
|
rs55958233
|
0.01103
|
NM_000817.3(GAD1):c.*803T>C
|
rs45557335
|
0.01102
|
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=)
|
rs6711223
|
0.01102
|
NM_152309.3(PIK3AP1):c.20C>T (p.Pro7Leu)
|
rs73334383
|
0.01102
|
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)
|
rs187930476
|
0.01101
|
NM_018834.6(MATR3):c.*1425C>G
|
rs145516036
|
0.01098
|
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=)
|
rs74459402
|
0.01097
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)
|
rs115466046
|
0.01096
|
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu)
|
rs73569515
|
0.01096
|
NM_001127649.3(PEX26):c.*1778C>T
|
rs79447039
|
0.01095
|
NM_024570.4(RNASEH2B):c.189A>G (p.Val63=)
|
rs35595258
|
0.01095
|
NM_152617.4(RNF168):c.307G>A (p.Asp103Asn)
|
rs149773824
|
0.01095
|
NM_001127649.3(PEX26):c.*1957G>A
|
rs11913772
|
0.01094
|
NM_020708.5(SLC12A5):c.2292G>T (p.Gly764=)
|
rs79522550
|
0.01094
|
NM_001351132.2(PEX5):c.1718+13A>G
|
rs116873137
|
0.01093
|
NM_001377265.1(MAPT):c.862G>A (p.Gly288Arg)
|
rs76375268
|
0.01093
|
NM_006267.5(RANBP2):c.816G>C (p.Leu272Phe)
|
rs76352345
|
0.01093
|
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr)
|
rs55872908
|
0.01092
|
NM_031448.6(C19orf12):c.*1666G>A
|
rs116378078
|
0.01091
|
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)
|
rs11098943
|
0.01088
|
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)
|
rs61731376
|
0.01088
|
NM_018129.4(PNPO):c.*1048C>T
|
rs114087393
|
0.01088
|
NM_033064.5(ATCAY):c.866+6A>G
|
rs116660680
|
0.01088
|
NM_007055.4(POLR3A):c.*1695G>A
|
rs61152426
|
0.01087
|
NM_031448.6(C19orf12):c.*3571C>T
|
rs74868577
|
0.01087
|
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=)
|
rs62426382
|
0.01086
|
NM_001110556.2(FLNA):c.869-7C>T
|
rs143311779
|
0.01084
|
NM_001329943.3(KIAA0586):c.2553+11G>A
|
rs78511804
|
0.01083
|
NM_031448.6(C19orf12):c.*579C>T
|
rs116245746
|
0.01082
|
NM_000318.3(PEX2):c.*1601T>A
|
rs116949534
|
0.01081
|
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn)
|
rs3739186
|
0.01081
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_031448.6(C19orf12):c.*3372C>T
|
rs117537955
|
0.01080
|
NM_001365088.1(SLC12A6):c.*2659A>G
|
rs142451941
|
0.01079
|
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=)
|
rs624147
|
0.01079
|
NM_001134831.2(AHI1):c.804A>C (p.Ser268=)
|
rs35528530
|
0.01078
|
NM_015046.7(SETX):c.*548A>T
|
rs139883935
|
0.01078
|
NM_001083614.2(EARS2):c.*755C>T
|
rs11647557
|
0.01076
|
NM_005076.5(CNTN2):c.2922T>G (p.Pro974=)
|
rs116036521
|
0.01076
|
NM_014236.4(GNPAT):c.925-17del
|
rs149282848
|
0.01076
|
NM_016219.5(MAN1B1):c.1255-5C>T
|
rs73569532
|
0.01076
|
NM_033064.5(ATCAY):c.810C>T (p.Ile270=)
|
rs61746441
|
0.01075
|
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)
|
rs56277715
|
0.01073
|
NM_001846.4(COL4A2):c.*25T>C
|
rs113331483
|
0.01072
|
NM_002361.4(MAG):c.409A>G (p.Ile137Val)
|
rs113328438
|
0.01072
|
NM_178138.6(LHX3):c.108G>A (p.Gln36=)
|
rs33998096
|
0.01071
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
NM_003332.4(TYROBP):c.*83C>T
|
rs14715
|
0.01070
|
NM_004565.3(PEX14):c.768G>A (p.Val256=)
|
rs36083022
|
0.01070
|
NM_005076.5(CNTN2):c.1516C>A (p.Arg506=)
|
rs114903768
|
0.01070
|
NM_025136.4(OPA3):c.*1836C>T
|
rs74717111
|
0.01070
|
NM_001288705.3(CSF1R):c.1083-8T>C
|
rs41428145
|
0.01068
|
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=)
|
rs1065759
|
0.01068
|
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=)
|
rs76224028
|
0.01067
|
NM_001166114.2(PNPLA6):c.3094-5C>T
|
rs116788699
|
0.01066
|
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)
|
rs78008536
|
0.01065
|
NM_014946.4(SPAST):c.*591A>T
|
rs115996749
|
0.01062
|
NM_004366.6(CLCN2):c.2271+8T>G
|
rs114350071
|
0.01055
|
NM_001429.4(EP300):c.2019T>C (p.Pro673=)
|
rs2230110
|
0.01054
|
NM_031466.8(TRAPPC9):c.-11+10G>A
|
rs117206975
|
0.01054
|
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
|
rs16019
|
0.01053
|
NM_003119.4(SPG7):c.2280G>A (p.Pro760=)
|
rs11559075
|
0.01053
|
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=)
|
rs12255950
|
0.01052
|
NM_006279.5(ST3GAL3):c.398-7T>C
|
rs114112844
|
0.01051
|
NM_006612.6(KIF1C):c.1166-8C>T
|
rs114935927
|
0.01049
|
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)
|
rs17850455
|
0.01048
|
NM_031448.6(C19orf12):c.*47T>C
|
rs111959875
|
0.01048
|
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=)
|
rs10135645
|
0.01047
|
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr)
|
rs35303786
|
0.01047
|
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys)
|
rs17843865
|
0.01046
|
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val)
|
rs35789999
|
0.01046
|
NM_022089.4(ATP13A2):c.2763-16G>A
|
rs114407349
|
0.01044
|
NM_012073.5(CCT5):c.*866A>C
|
rs114441137
|
0.01043
|
NM_001034116.2(EIF2B4):c.*1C>T
|
rs41288827
|
0.01042
|
NM_018319.4(TDP1):c.*799A>G
|
rs35437984
|
0.01042
|
NM_003630.3(PEX3):c.*205C>A
|
rs78091135
|
0.01040
|
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile)
|
rs79499902
|
0.01040
|
NM_001378452.1(ITPR1):c.5353+4C>T
|
rs60849754
|
0.01038
|
NM_024411.5(PDYN):c.*1396C>T
|
rs6106013
|
0.01038
|
NM_003690.5(PRKRA):c.*159T>C
|
rs115244185
|
0.01037
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_001165963.4(SCN1A):c.4002+2052A>G
|
rs58140851
|
0.01036
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=)
|
rs34252981
|
0.01036
|
NM_014043.4(CHMP2B):c.*231T>C
|
rs17189270
|
0.01035
|
NM_014043.4(CHMP2B):c.-151C>A
|
rs77328592
|
0.01035
|
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)
|
rs140192268
|
0.01034
|
NM_003659.4(AGPS):c.147C>T (p.Pro49=)
|
rs34442536
|
0.01033
|
NM_006721.4(ADK):c.726+11T>G
|
rs45529443
|
0.01033
|
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly)
|
rs6054614
|
0.01033
|
NM_182961.4(SYNE1):c.402+11A>G
|
rs80276170
|
0.01033
|
NM_198578.4(LRRK2):c.*1464T>G
|
rs17491828
|
0.01033
|
NM_000098.3(CPT2):c.1767G>A (p.Thr589=)
|
rs77565483
|
0.01032
|
NM_001351132.2(PEX5):c.*960C>G
|
rs78134587
|
0.01032
|
NM_004519.4(KCNQ3):c.*4258T>C
|
rs113937538
|
0.01032
|
NM_198578.4(LRRK2):c.*1482A>G
|
rs17491835
|
0.01032
|
NM_152743.4(BRAT1):c.1867G>A (p.Gly623Ser)
|
rs77015302
|
0.01031
|
NM_003924.4(PHOX2B):c.*161G>A
|
rs114290493
|
0.01029
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
NM_031448.6(C19orf12):c.*2763A>G
|
rs113735809
|
0.01028
|
NM_152564.5(VPS13B):c.11044+13G>A
|
rs116819080
|
0.01028
|
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=)
|
rs141815642
|
0.01027
|
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)
|
rs41317925
|
0.01027
|
NM_025219.3(DNAJC5):c.*895C>G
|
rs1064345
|
0.01026
|
NM_000284.4(PDHA1):c.*1563C>G
|
rs7883708
|
0.01025
|
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)
|
rs62636220
|
0.01025
|
NM_004562.3(PRKN):c.957T>C (p.Gly319=)
|
rs144340740
|
0.01025
|
NM_006516.4(SLC2A1):c.973-17A>G
|
rs111596088
|
0.01025
|
NM_000318.3(PEX2):c.*1242A>G
|
rs73691481
|
0.01024
|
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=)
|
rs16897391
|
0.01022
|
NM_000484.4(APP):c.1224+20C>T
|
rs45543035
|
0.01021
|
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=)
|
rs35513423
|
0.01020
|
NM_014236.4(GNPAT):c.525A>G (p.Leu175=)
|
rs6659098
|
0.01020
|
NM_000318.3(PEX2):c.*2306A>G
|
rs59296540
|
0.01019
|
NM_014946.4(SPAST):c.*1962A>G
|
rs187724468
|
0.01019
|
NM_000318.3(PEX2):c.*2554G>A
|
rs116215385
|
0.01018
|
NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala)
|
rs145582574
|
0.01018
|
NM_000096.4(CP):c.2286-12T>G
|
rs183671127
|
0.01016
|
NM_173354.5(SIK1):c.693G>A (p.Thr231=)
|
rs113685366
|
0.01016
|
NM_001365999.1(SZT2):c.5198G>A (p.Arg1733His)
|
rs147797700
|
0.01015
|
NM_015166.3(MLC1):c.-156C>T
|
rs2076126
|
0.01015
|
NM_018718.3(CEP41):c.*3783T>C
|
rs117071818
|
0.01015
|
NM_000368.5(TSC1):c.*841C>T
|
rs149902841
|
0.01013
|
NM_000405.4(GM2A):c.-44G>A
|
rs144932594
|
0.01013
|
NM_025000.4(DCAF17):c.*2348G>A
|
rs112519318
|
0.01011
|
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=)
|
rs35413925
|
0.01009
|
NM_016042.4(EXOSC3):c.*296T>C
|
rs138197600
|
0.01009
|
NM_014946.4(SPAST):c.*1963A>G
|
rs192476121
|
0.01008
|
NM_003719.5(PDE8B):c.1267A>G (p.Ile423Val)
|
rs61999348
|
0.01007
|
NM_004115.4(FGF14):c.*31G>A
|
rs149661933
|
0.01007
|
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly)
|
rs117412802
|
0.01005
|
NM_002087.4(GRN):c.*280G>A
|
rs116547342
|
0.01005
|
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln)
|
rs121912497
|
0.01005
|
NM_001244008.2(KIF1A):c.363+16C>T
|
rs7594569
|
0.01003
|
NM_001079872.2(CUL4B):c.1324+15G>A
|
rs143921252
|
0.01002
|
NM_005120.3(MED12):c.5535C>T (p.Asn1845=)
|
rs34784349
|
0.01002
|
NM_003072.5(SMARCA4):c.4635+12G>A
|
rs34930626
|
0.01001
|
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=)
|
rs56307230
|
0.01001
|
NM_000487.6(ARSA):c.624T>C (p.His208=)
|
rs113990230
|
0.01000
|
NM_004380.3(CREBBP):c.459G>A (p.Pro153=)
|
rs56388626
|
0.01000
|
NM_032193.4(RNASEH2C):c.*1007C>G
|
rs112903919
|
0.01000
|
NM_000284.4(PDHA1):c.*1682T>C
|
rs55744630
|
0.00998
|
NM_006087.4(TUBB4A):c.*3T>C
|
rs150446118
|
0.00998
|
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=)
|
rs184883626
|
0.00997
|
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=)
|
rs62637652
|
0.00997
|
NM_004722.4(AP4M1):c.58+12C>T
|
rs189367118
|
0.00997
|
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)
|
rs61755434
|
0.00997
|
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser)
|
rs34951517
|
0.00996
|
NM_020919.4(ALS2):c.*105A>C
|
rs141509107
|
0.00995
|
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=)
|
rs115456625
|
0.00993
|
NM_000405.5(GM2A):c.*536G>T
|
rs151210034
|
0.00992
|
NM_001034116.2(EIF2B4):c.1372+13A>C
|
rs78914478
|
0.00992
|
NM_002578.5(PAK3):c.1185C>T (p.Leu395=)
|
rs150174049
|
0.00992
|
NM_033064.5(ATCAY):c.*2514A>G
|
rs142048723
|
0.00992
|
NM_004385.5(VCAN):c.899C>T (p.Ser300Leu)
|
rs2652098
|
0.00988
|
NM_001044.5(SLC6A3):c.653+13C>T
|
rs16878300
|
0.00986
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
NM_000108.5(DLD):c.*648G>A
|
rs57801571
|
0.00985
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=)
|
rs35416748
|
0.00984
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
NM_024411.5(PDYN):c.*1029A>G
|
rs115095625
|
0.00982
|
NM_000156.6(GAMT):c.570+165G>A
|
rs74253480
|
0.00981
|
NM_004385.5(VCAN):c.4422T>C (p.Thr1474=)
|
rs61733395
|
0.00980
|
NM_152743.4(BRAT1):c.924-13C>T
|
rs73287544
|
0.00979
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=)
|
rs142903301
|
0.00977
|
NM_014855.3(AP5Z1):c.1708-5C>T
|
rs184752711
|
0.00977
|
NM_006030.4(CACNA2D2):c.2863-15C>T
|
rs149761786
|
0.00975
|
NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys)
|
rs45628035
|
0.00975
|
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=)
|
rs61736900
|
0.00974
|
NM_002618.4(PEX13):c.*1943G>A
|
rs183689971
|
0.00973
|
NM_017791.3(FLVCR2):c.-111T>C
|
rs80001297
|
0.00973
|
NM_001085411.3(NADK2):c.1104G>A (p.Pro368=)
|
rs79189380
|
0.00972
|
NM_025136.4(OPA3):c.*3222C>T
|
rs73568980
|
0.00971
|
NM_001205293.3(CACNA1E):c.373-14C>T
|
rs4083900
|
0.00970
|
NM_017755.6(NSUN2):c.*581T>C
|
rs142451419
|
0.00970
|
NM_018100.4(EFHC1):c.881G>A (p.Arg294His)
|
rs1570624
|
0.00969
|
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn)
|
rs76699382
|
0.00969
|
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)
|
rs148268937
|
0.00967
|
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=)
|
rs116007471
|
0.00967
|
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=)
|
rs61745451
|
0.00966
|
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=)
|
rs61741217
|
0.00966
|
NM_004408.4(DNM1):c.1905+17C>T
|
rs115623280
|
0.00965
|
NM_007126.5(VCP):c.*906A>G
|
rs76360394
|
0.00965
|
NM_004408.4(DNM1):c.1894-18G>T
|
rs116335289
|
0.00963
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196
|
0.00962
|
NM_014271.4(IL1RAPL1):c.-39G>A
|
rs143054072
|
0.00962
|
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)
|
rs61746722
|
0.00962
|
NM_001271696.3(ABCB7):c.945-7C>T
|
rs5937938
|
0.00961
|
NM_001414.4(EIF2B1):c.417A>G (p.Glu139=)
|
rs73414297
|
0.00961
|
NM_021728.4(OTX2):c.459C>T (p.Ser153=)
|
rs34537598
|
0.00961
|
NM_005591.4(MRE11):c.1032T>G (p.Leu344=)
|
rs11020793
|
0.00960
|
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)
|
rs16999593
|
0.00959
|
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762
|
0.00959
|
NM_003265.3(TLR3):c.1927C>A (p.Arg643Ser)
|
rs73025939
|
0.00959
|
NM_015046.7(SETX):c.-124C>T
|
rs114850064
|
0.00959
|
NM_018723.4(RBFOX1):c.333A>G (p.Glu111=)
|
rs140174146
|
0.00959
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=)
|
rs59385968
|
0.00957
|
NM_000817.3(GAD1):c.*513C>T
|
rs45456393
|
0.00956
|
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_006946.4(SPTBN2):c.285C>T (p.Leu95=)
|
rs34117933
|
0.00956
|
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu)
|
rs116807842
|
0.00956
|
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln)
|
rs61744200
|
0.00956
|
NM_004385.5(VCAN):c.9104C>T (p.Ala3035Val)
|
rs111512368
|
0.00955
|
NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr)
|
rs137973249
|
0.00954
|
NM_203446.3(SYNJ1):c.*329G>A
|
rs61750217
|
0.00954
|
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=)
|
rs61749272
|
0.00952
|
NM_004519.4(KCNQ3):c.*3823G>A
|
rs17651980
|
0.00951
|
NM_006267.5(RANBP2):c.1209C>T (p.Ser403=)
|
rs140275032
|
0.00951
|
NM_015294.6(TRIM37):c.*373A>G
|
rs145973955
|
0.00951
|
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=)
|
rs146925326
|
0.00950
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00950
|
NM_006267.5(RANBP2):c.1632-16T>C
|
rs147266881
|
0.00948
|
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=)
|
rs59844753
|
0.00947
|
NM_001199107.2(TBC1D24):c.*4479C>T
|
rs1135527
|
0.00946
|
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr)
|
rs2228206
|
0.00946
|
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
NM_016373.4(WWOX):c.885G>A (p.Arg295=)
|
rs79771882
|
0.00946
|
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile)
|
rs12941376
|
0.00945
|
NM_004519.4(KCNQ3):c.*3957A>G
|
rs16904601
|
0.00945
|
NM_000108.5(DLD):c.777A>G (p.Lys259=)
|
rs1065762
|
0.00944
|
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile)
|
rs41289969
|
0.00944
|
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val)
|
rs76393834
|
0.00944
|
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)
|
rs140226523
|
0.00943
|
NM_014946.4(SPAST):c.879G>A (p.Pro293=)
|
rs145264166
|
0.00943
|
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly)
|
rs115335100
|
0.00943
|
NM_173500.4(TTBK2):c.*1162T>A
|
rs79592696
|
0.00943
|
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810
|
0.00942
|
NM_006267.5(RANBP2):c.2173A>G (p.Ser725Gly)
|
rs17414315
|
0.00940
|
NM_000108.5(DLD):c.*1300A>G
|
rs77095705
|
0.00939
|
NM_021625.5(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423
|
0.00939
|
NM_004519.4(KCNQ3):c.*5255T>C
|
rs146830560
|
0.00938
|
NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp)
|
rs28454778
|
0.00937
|
NM_005149.3(TBX19):c.105C>T (p.Asp35=)
|
rs34284181
|
0.00937
|
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys)
|
rs143992266
|
0.00936
|
NM_014053.4(FLVCR1):c.*1544A>G
|
rs6685793
|
0.00936
|
NM_152743.4(BRAT1):c.1135-8C>A
|
rs113613637
|
0.00936
|
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg)
|
rs111449472
|
0.00935
|
NM_001040142.2(SCN2A):c.*2423A>G
|
rs77976453
|
0.00934
|
NM_015192.4(PLCB1):c.2413+9C>T
|
rs138442805
|
0.00934
|
NM_001130438.3(SPTAN1):c.2194-13T>G
|
rs28676915
|
0.00932
|
NM_014324.6(AMACR):c.*1727G>T
|
rs116333833
|
0.00932
|
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=)
|
rs115565179
|
0.00932
|
NM_018713.3(SLC30A10):c.640+10G>A
|
rs79328219
|
0.00931
|
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=)
|
rs62111288
|
0.00930
|
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=)
|
rs112133109
|
0.00930
|
NM_001379500.1(COL18A1):c.2196G>A (p.Pro732=)
|
rs115470104
|
0.00930
|
NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=)
|
rs56078873
|
0.00930
|
NM_016464.5(TMEM138):c.-24G>A
|
rs116455434
|
0.00930
|
NM_001385875.1(ZFYVE27):c.*132C>T
|
rs115982037
|
0.00929
|
NM_004385.5(VCAN):c.*1678G>T
|
rs10411
|
0.00929
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
NM_021098.3(CACNA1H):c.1120-8C>T
|
rs59091981
|
0.00928
|
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr)
|
rs191549504
|
0.00927
|
NM_130837.3(OPA1):c.*2408A>G
|
rs73069788
|
0.00927
|
NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn)
|
rs34280195
|
0.00926
|
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=)
|
rs145220403
|
0.00924
|
NM_033064.5(ATCAY):c.*486A>C
|
rs115839391
|
0.00924
|
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)
|
rs77499935
|
0.00923
|
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu)
|
rs77518617
|
0.00922
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_000108.5(DLD):c.1422A>C (p.Gly474=)
|
rs34453495
|
0.00918
|
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=)
|
rs61520357
|
0.00918
|
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=)
|
rs41274568
|
0.00917
|
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp)
|
rs139115934
|
0.00916
|
NM_016955.4(SEPSECS):c.1120+12T>C
|
rs4697552
|
0.00916
|
NM_018075.5(ANO10):c.-90C>T
|
rs565644253
|
0.00916
|
NM_033064.5(ATCAY):c.*3154C>T
|
rs116311313
|
0.00916
|
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=)
|
rs144596829
|
0.00916
|
NM_006796.3(AFG3L2):c.*109A>C
|
rs114203162
|
0.00915
|
NM_014855.3(AP5Z1):c.1312-20C>T
|
rs114137831
|
0.00915
|
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys)
|
rs12070353
|
0.00912
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=)
|
rs76354303
|
0.00909
|
NM_005573.4(LMNB1):c.279C>T (p.Leu93=)
|
rs74362780
|
0.00909
|
NM_025243.4(SLC19A3):c.*103C>A
|
rs116590386
|
0.00909
|
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=)
|
rs139524103
|
0.00909
|
NM_198904.4(GABRG2):c.*1974G>A
|
rs150875037
|
0.00909
|
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)
|
rs73025979
|
0.00908
|
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys)
|
rs35629489
|
0.00908
|
NM_032776.3(JMJD1C):c.6570+3G>A
|
rs76935733
|
0.00908
|
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=)
|
rs117020413
|
0.00908
|
NM_016042.4(EXOSC3):c.-12G>C
|
rs115431773
|
0.00907
|
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=)
|
rs116691849
|
0.00907
|
NM_001854.4(COL11A1):c.4140+10A>T
|
rs187171126
|
0.00906
|
NM_015915.5(ATL1):c.35-14G>A
|
rs115722924
|
0.00906
|
NM_003719.5(PDE8B):c.362G>A (p.Arg121His)
|
rs115599001
|
0.00904
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=)
|
rs35025065
|
0.00902
|
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)
|
rs57451017
|
0.00901
|
NM_007254.4(PNKP):c.1127-8C>T
|
rs3739203
|
0.00901
|
NM_004565.3(PEX14):c.213C>G (p.Gly71=)
|
rs41274482
|
0.00899
|
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=)
|
rs6089898
|
0.00898
|
NM_001134407.3(GRIN2A):c.*4919C>T
|
rs79849427
|
0.00898
|
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)
|
rs2295191
|
0.00898
|
NM_001134407.3(GRIN2A):c.*1474T>C
|
rs144327233
|
0.00895
|
NM_001163435.3(TBCK):c.1898-20G>T
|
rs45462491
|
0.00895
|
NM_004385.5(VCAN):c.2065A>G (p.Thr689Ala)
|
rs61754531
|
0.00895
|
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=)
|
rs35099393
|
0.00894
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00894
|
NM_001378452.1(ITPR1):c.3327+12C>T
|
rs116022052
|
0.00894
|
NM_002541.4(OGDH):c.2784A>G (p.Thr928=)
|
rs112309751
|
0.00894
|
NM_003042.4(SLC6A1):c.535A>G (p.Met179Val)
|
rs34299874
|
0.00894
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_000811.3(GABRA6):c.560C>T (p.Thr187Met)
|
rs3811993
|
0.00892
|
NM_004168.4(SDHA):c.549C>T (p.Gly183=)
|
rs61733344
|
0.00892
|
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)
|
rs34355967
|
0.00892
|
NM_002693.3(POLG):c.1586-5del
|
rs2307434
|
0.00891
|
NM_014845.6(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087
|
0.00891
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_000310.4(PPT1):c.*3C>A
|
rs150454815
|
0.00889
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_021728.4(OTX2):c.97+12C>T
|
rs28757218
|
0.00889
|
NM_002739.5(PRKCG):c.*199C>T
|
rs114091656
|
0.00888
|
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe)
|
rs117228915
|
0.00888
|
NM_001271.4(CHD2):c.4138-15T>G
|
rs115207100
|
0.00887
|
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His)
|
rs79486252
|
0.00887
|
NM_018082.6(POLR3B):c.*565G>A
|
rs55715506
|
0.00886
|
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=)
|
rs58110336
|
0.00885
|
NM_025243.4(SLC19A3):c.756G>A (p.Leu252=)
|
rs12185721
|
0.00883
|
NM_001134407.3(GRIN2A):c.*5447G>T
|
rs145736101
|
0.00881
|
NM_001099403.2(PRDM8):c.451+13G>T
|
rs61999345
|
0.00880
|
NM_001166114.2(PNPLA6):c.555-20G>A
|
rs183762415
|
0.00880
|
NM_005154.5(USP8):c.2511G>A (p.Leu837=)
|
rs79646551
|
0.00880
|
NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg)
|
rs74033733
|
0.00879
|
NM_004268.5(MED17):c.1071T>A (p.Phe357Leu)
|
rs35313315
|
0.00877
|
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)
|
rs35735053
|
0.00876
|
NM_001386393.1(PANK2):c.*218A>G
|
rs71647860
|
0.00876
|
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)
|
rs138183109
|
0.00874
|
NM_001182.5(ALDH7A1):c.*2512G>A
|
rs76363408
|
0.00874
|
NM_021098.3(CACNA1H):c.4929+18G>A
|
rs59548273
|
0.00873
|
NM_025243.4(SLC19A3):c.*1792C>T
|
rs181948693
|
0.00872
|
NM_001846.4(COL4A2):c.732C>T (p.Asp244=)
|
rs144319016
|
0.00870
|
NM_144563.3(RPIA):c.858A>G (p.Leu286=)
|
rs142341148
|
0.00870
|
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)
|
rs62621875
|
0.00869
|
NM_002609.4(PDGFRB):c.102C>T (p.Val34=)
|
rs17708515
|
0.00869
|
NM_004035.7(ACOX1):c.921G>A (p.Arg307=)
|
rs79677613
|
0.00869
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_005591.4(MRE11):c.*2699A>T
|
rs13447760
|
0.00868
|
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=)
|
rs2301357
|
0.00867
|
NM_005591.4(MRE11):c.*1766G>C
|
rs13447752
|
0.00867
|
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=)
|
rs76621355
|
0.00866
|
NM_004984.4(KIF5A):c.*394A>G
|
rs114621289
|
0.00866
|
NM_001244008.2(KIF1A):c.184-10C>T
|
rs7594776
|
0.00865
|
NM_033343.4(LHX4):c.*286G>C
|
rs80203153
|
0.00865
|
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp)
|
rs11559048
|
0.00864
|
NM_004960.3(FUS):c.*626G>A
|
rs115626460
|
0.00863
|
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=)
|
rs76974316
|
0.00862
|
NM_005506.4(SCARB2):c.475A>G (p.Met159Val)
|
rs143655258
|
0.00858
|
NM_020822.3(KCNT1):c.2729+9A>G
|
rs12005420
|
0.00858
|
NM_198859.4(PRICKLE2):c.*1277C>G
|
rs17069880
|
0.00857
|
NM_000484.4(APP):c.2133C>A (p.Val711=)
|
rs116650065
|
0.00856
|
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=)
|
rs140722653
|
0.00856
|
NM_018129.4(PNPO):c.*1580G>A
|
rs143175555
|
0.00856
|
NM_001044385.3(TMEM237):c.*1489G>C
|
rs78220061
|
0.00855
|
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)
|
rs140237315
|
0.00855
|
NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp)
|
rs79702016
|
0.00855
|
NM_020247.5(COQ8A):c.*790A>G
|
rs12565212
|
0.00855
|
NM_004035.7(ACOX1):c.*654A>G
|
rs1057921
|
0.00854
|
NM_032776.3(JMJD1C):c.1379T>C (p.Met460Thr)
|
rs151186255
|
0.00854
|
NM_001008212.2(OPTN):c.627-10T>C
|
rs80327830
|
0.00853
|
NM_001042432.2(CLN3):c.*99C>T
|
rs113845299
|
0.00853
|
NM_005619.5(RTN2):c.51A>G (p.Thr17=)
|
rs117156117
|
0.00852
|
NM_003619.4(PRSS12):c.*1595A>G
|
rs145858385
|
0.00851
|
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His)
|
rs61732501
|
0.00850
|
NM_002778.4(PSAP):c.78C>T (p.Thr26=)
|
rs74145688
|
0.00850
|
NM_005154.5(USP8):c.1296A>G (p.Gln432=)
|
rs3131561
|
0.00850
|
NM_006267.5(RANBP2):c.5941T>A (p.Ser1981Thr)
|
rs61748150
|
0.00849
|
NM_032193.4(RNASEH2C):c.*1295T>C
|
rs4645937
|
0.00847
|
NM_002617.4(PEX10):c.843G>A (p.Arg281=)
|
rs35082957
|
0.00846
|
NM_002693.3(POLG):c.2109C>A (p.Ala703=)
|
rs2307429
|
0.00845
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_006721.4(ADK):c.195-18A>G
|
rs144492760
|
0.00844
|
NM_030930.4(UNC93B1):c.1155C>T (p.Gly385=)
|
rs200930438
|
0.00844
|
NM_001195248.2(APTX):c.318C>T (p.Asn106=)
|
rs79254654
|
0.00842
|
NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe)
|
rs74638057
|
0.00841
|
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala)
|
rs138693624
|
0.00841
|
NM_000033.4(ABCD1):c.901-16C>T
|
rs41302176
|
0.00840
|
NM_001135674.2(SMIM19):c.-230G>A
|
rs145711927
|
0.00840
|
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=)
|
rs147625988
|
0.00840
|
NM_001244008.2(KIF1A):c.3063+17C>T
|
rs116040950
|
0.00839
|
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=)
|
rs117901891
|
0.00839
|
NM_005359.6(SMAD4):c.*6513C>T
|
rs76020793
|
0.00838
|
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=)
|
rs146141457
|
0.00837
|
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=)
|
rs145186782
|
0.00836
|
NM_001429.4(EP300):c.2998-12G>A
|
rs115849119
|
0.00836
|
NM_152722.5(HEPACAM):c.975G>A (p.Pro325=)
|
rs116536622
|
0.00836
|
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=)
|
rs114177619
|
0.00835
|
NM_016169.4(SUFU):c.*118C>T
|
rs2298277
|
0.00835
|
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)
|
rs2229558
|
0.00834
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287
|
0.00833
|
NM_015166.4(MLC1):c.*339C>T
|
rs115770001
|
0.00833
|
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser)
|
rs45479302
|
0.00830
|
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=)
|
rs114209691
|
0.00830
|
NM_000742.4(CHRNA2):c.-424C>T
|
rs55726427
|
0.00829
|
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)
|
rs17882335
|
0.00827
|
NM_020919.4(ALS2):c.*843G>A
|
rs41309062
|
0.00827
|
NM_020919.4(ALS2):c.4581-7A>G
|
rs114458388
|
0.00827
|
NM_001134407.3(GRIN2A):c.*2924A>C
|
rs77580194
|
0.00826
|
NM_005051.3(QARS1):c.1957-19C>G
|
rs112579679
|
0.00826
|
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile)
|
rs117367857
|
0.00826
|
NM_022168.4(IFIH1):c.177T>C (p.Val59=)
|
rs115500208
|
0.00826
|
NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg)
|
rs78829338
|
0.00822
|
NM_015915.5(ATL1):c.*621G>A
|
rs1060183
|
0.00821
|
NM_001958.5(EEF1A2):c.1265-15C>T
|
rs200634874
|
0.00820
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=)
|
rs61754536
|
0.00819
|
NM_015166.4(MLC1):c.*572C>T
|
rs367816647
|
0.00818
|
NM_021815.5(SLC5A7):c.1245C>T (p.Ile415=)
|
rs149442049
|
0.00818
|
NM_139318.5(KCNH5):c.1369+7A>G
|
rs79489451
|
0.00818
|
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)
|
rs112812685
|
0.00817
|
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)
|
rs117983287
|
0.00817
|
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=)
|
rs11543345
|
0.00816
|
NM_001365088.1(SLC12A6):c.1284C>T (p.Asn428=)
|
rs34098566
|
0.00816
|
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=)
|
rs150857429
|
0.00816
|
NM_182961.4(SYNE1):c.25246+18A>C
|
rs11756479
|
0.00816
|
NM_002541.4(OGDH):c.1857T>C (p.Asn619=)
|
rs113823811
|
0.00815
|
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=)
|
rs142359891
|
0.00815
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=)
|
rs16992990
|
0.00815
|
NM_000742.4(CHRNA2):c.-422G>A
|
rs80025940
|
0.00813
|
NM_003072.5(SMARCA4):c.4768+15G>C
|
rs113131294
|
0.00813
|
NM_001134407.3(GRIN2A):c.*6597G>A
|
rs115306961
|
0.00812
|
NM_152564.5(VPS13B):c.*1539A>G
|
rs80237506
|
0.00812
|
NM_001191061.2(SLC25A22):c.*841A>T
|
rs116673603
|
0.00811
|
NM_001378452.1(ITPR1):c.1251+10G>A
|
rs75936691
|
0.00811
|
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)
|
rs77782321
|
0.00810
|
NM_025136.4(OPA3):c.*6294A>C
|
rs114655581
|
0.00810
|
NM_001015877.2(PHF6):c.927C>T (p.Asp309=)
|
rs112199174
|
0.00809
|
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)
|
rs61732733
|
0.00809
|
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=)
|
rs139486822
|
0.00809
|
NM_001386393.1(PANK2):c.189C>G (p.Pro63=)
|
rs71647829
|
0.00808
|
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly)
|
rs3783697
|
0.00806
|
NM_001846.4(COL4A2):c.1308C>T (p.Pro436=)
|
rs78615289
|
0.00806
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_002693.3(POLG):c.1713-31G>A
|
rs3176191
|
0.00805
|
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=)
|
rs35648306
|
0.00805
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=)
|
rs35272495
|
0.00802
|
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=)
|
rs34654108
|
0.00801
|
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=)
|
rs138667007
|
0.00801
|
NM_013254.4(TBK1):c.2139-11G>A
|
rs41292027
|
0.00800
|
NM_014946.4(SPAST):c.*2318G>A
|
rs141017850
|
0.00800
|
NM_020631.6(PLEKHG5):c.*63C>T
|
rs45446394
|
0.00800
|
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=)
|
rs112703040
|
0.00799
|
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)
|
rs61744561
|
0.00798
|
NM_001365999.1(SZT2):c.4051T>C (p.Trp1351Arg)
|
rs72883814
|
0.00798
|
NM_001182.5(ALDH7A1):c.*1446G>A
|
rs114580465
|
0.00797
|
NM_000405.5(GM2A):c.*824C>A
|
rs186626408
|
0.00796
|
NM_001083614.2(EARS2):c.*1362T>C
|
rs7342735
|
0.00796
|
NM_002180.3(IGHMBP2):c.1757-18C>A
|
rs77247855
|
0.00796
|
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met)
|
rs116111018
|
0.00795
|
NM_002180.3(IGHMBP2):c.*22C>T
|
rs80298715
|
0.00795
|
NM_198859.4(PRICKLE2):c.144+10T>C
|
rs74535153
|
0.00794
|
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)
|
rs2228439
|
0.00793
|
NM_004385.5(VCAN):c.2378T>C (p.Leu793Ser)
|
rs76165877
|
0.00793
|
NM_015973.5(GAL):c.47C>T (p.Ala16Val)
|
rs34725707
|
0.00793
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000466.3(PEX1):c.2901G>A (p.Gln967=)
|
rs111704518
|
0.00792
|
NM_001182.5(ALDH7A1):c.*2575T>C
|
rs114287342
|
0.00792
|
NM_014855.3(AP5Z1):c.1132+14G>T
|
rs139019097
|
0.00792
|
NM_021098.3(CACNA1H):c.498C>T (p.Tyr166=)
|
rs58142268
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=)
|
rs114315466
|
0.00790
|
NM_001134407.3(GRIN2A):c.*5045T>A
|
rs148967966
|
0.00790
|
NM_006267.5(RANBP2):c.3411A>C (p.Pro1137=)
|
rs76461420
|
0.00790
|
NM_015915.5(ATL1):c.693T>C (p.Gly231=)
|
rs139720661
|
0.00790
|
NM_000414.4(HSD17B4):c.740-16T>G
|
rs35416500
|
0.00789
|
NM_001110556.2(FLNA):c.1829-13T>C
|
rs192905521
|
0.00789
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp)
|
rs41264871
|
0.00788
|
NM_001083614.2(EARS2):c.*1099A>G
|
rs74014928
|
0.00787
|
NM_002693.3(POLG):c.3561G>C (p.Arg1187=)
|
rs62640037
|
0.00787
|
NM_015973.5(GAL):c.364C>T (p.Arg122Trp)
|
rs36058701
|
0.00787
|
NM_020631.6(PLEKHG5):c.*108G>A
|
rs11800788
|
0.00786
|
NM_001378452.1(ITPR1):c.3327+4G>A
|
rs2306878
|
0.00785
|
NM_002693.3(POLG):c.3644-9A>G
|
rs115048121
|
0.00785
|
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=)
|
rs61754523
|
0.00785
|
NM_001244008.2(KIF1A):c.5021+16C>T
|
rs138847355
|
0.00783
|
NM_145725.3(TRAF3):c.1110C>T (p.Ser370=)
|
rs1051743
|
0.00783
|
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=)
|
rs117738194
|
0.00782
|
NM_001382391.1(CSPP1):c.3110-11A>G
|
rs148930801
|
0.00781
|
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)
|
rs25647
|
0.00781
|
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=)
|
rs34616316
|
0.00781
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_006922.4(SCN3A):c.4432-14T>C
|
rs73969177
|
0.00780
|
NM_003119.4(SPG7):c.120G>A (p.Gly40=)
|
rs187330648
|
0.00779
|
NM_001110792.2(MECP2):c.413+22C>G
|
rs2075597
|
0.00778
|
NM_001271.4(CHD2):c.693-20C>T
|
rs141271290
|
0.00778
|
NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly)
|
rs73937614
|
0.00778
|
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)
|
rs114389264
|
0.00778
|
NM_015166.4(MLC1):c.*1321A>G
|
rs149073568
|
0.00778
|
NM_018100.4(EFHC1):c.662G>A (p.Arg221His)
|
rs79761183
|
0.00778
|
NM_000414.4(HSD17B4):c.*6A>G
|
rs111671384
|
0.00777
|
NM_001182.5(ALDH7A1):c.*2423C>T
|
rs114575585
|
0.00777
|
NM_020919.4(ALS2):c.3625-16_3625-15del
|
rs370628135
|
0.00777
|
NM_001351132.2(PEX5):c.998G>A (p.Arg333His)
|
rs59209175
|
0.00776
|
NM_015166.4(MLC1):c.*12G>A
|
rs142027672
|
0.00776
|
NM_000382.3(ALDH3A2):c.*36G>A
|
rs138462610
|
0.00775
|
NM_012193.4(FZD4):c.*2581G>T
|
rs60226660
|
0.00774
|
NM_144599.5(NIPA1):c.*4363C>T
|
rs139459875
|
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_182961.4(SYNE1):c.12079-12G>T
|
rs73783853
|
0.00771
|
NM_000153.4(GALC):c.*395C>T
|
rs3850376
|
0.00770
|
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)
|
rs2307443
|
0.00770
|
NM_003793.4(CTSF):c.1322-19G>A
|
rs73505406
|
0.00770
|
NM_012193.4(FZD4):c.*2542T>C
|
rs115557428
|
0.00769
|
NM_001365999.1(SZT2):c.759G>A (p.Ser253=)
|
rs1889586
|
0.00768
|
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=)
|
rs201655779
|
0.00768
|
NM_006308.3(HSPB3):c.199G>A (p.Gly67Ser)
|
rs35258119
|
0.00768
|
NM_012073.5(CCT5):c.1194G>A (p.Ala398=)
|
rs113262482
|
0.00768
|
NM_021098.3(CACNA1H):c.3189C>T (p.Asn1063=)
|
rs61394370
|
0.00768
|
NM_024411.5(PDYN):c.*356T>C
|
rs114429882
|
0.00768
|
NM_001099922.3(ALG13):c.2401+12C>A
|
rs150294098
|
0.00767
|
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)
|
rs61734527
|
0.00766
|
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=)
|
rs7249722
|
0.00766
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=)
|
rs61753382
|
0.00763
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00763
|
NM_007347.5(AP4E1):c.542+11T>G
|
rs58882998
|
0.00762
|
NM_033305.3(VPS13A):c.228T>C (p.Thr76=)
|
rs115443572
|
0.00762
|
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=)
|
rs35538317
|
0.00761
|
NM_182961.4(SYNE1):c.156T>C (p.Asp52=)
|
rs139156106
|
0.00761
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu)
|
rs35342235
|
0.00760
|
NM_171998.4(RAB39B):c.*1945A>T
|
rs145867198
|
0.00760
|
NM_001352514.2(HLCS):c.494-13A>G
|
rs76785742
|
0.00759
|
NM_001378452.1(ITPR1):c.2204+13C>T
|
rs141519515
|
0.00759
|
NM_003793.4(CTSF):c.1368C>T (p.Asp456=)
|
rs148155987
|
0.00759
|
NM_005027.4(PIK3R2):c.1736+12C>T
|
rs112411913
|
0.00759
|
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_001371928.1(AHDC1):c.1326C>T (p.Gly442=)
|
rs188125472
|
0.00758
|
NM_003793.4(CTSF):c.939G>A (p.Gly313=)
|
rs114727660
|
0.00758
|
NM_171998.4(RAB39B):c.*282G>T
|
rs147213132
|
0.00758
|
NM_001205293.3(CACNA1E):c.4606-7T>C
|
rs74444271
|
0.00757
|
NM_014946.4(SPAST):c.*765A>C
|
rs141666739
|
0.00757
|
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)
|
rs111527940
|
0.00755
|
NM_006516.4(SLC2A1):c.*60C>T
|
rs2229684
|
0.00754
|
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr)
|
rs41278954
|
0.00753
|
NM_017755.6(NSUN2):c.123C>T (p.Ile41=)
|
rs112327056
|
0.00752
|
NM_002335.4(LRP5):c.687-17C>T
|
rs186410639
|
0.00751
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
NM_001256071.3(RNF213):c.14194A>G (p.Lys4732Glu)
|
rs12944385
|
0.00750
|
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg)
|
rs140540720
|
0.00750
|
NM_014946.4(SPAST):c.*1454G>C
|
rs147052682
|
0.00749
|
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser)
|
rs116716038
|
0.00747
|
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser)
|
rs3746609
|
0.00747
|
NM_000021.4(PSEN1):c.*3566A>G
|
rs74061007
|
0.00746
|
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=)
|
rs113335442
|
0.00745
|
NM_153033.5(KCTD7):c.*9G>T
|
rs116630203
|
0.00745
|
NM_001024845.3(SLC6A9):c.31-697C>G
|
rs187474842
|
0.00742
|
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=)
|
rs41287094
|
0.00742
|
NM_014946.4(SPAST):c.*1604G>A
|
rs192438402
|
0.00742
|
NM_024411.5(PDYN):c.575A>T (p.Glu192Val)
|
rs45469293
|
0.00742
|
NM_130837.3(OPA1):c.2973G>A (p.Ala991=)
|
rs117475774
|
0.00742
|
NM_000021.4(PSEN1):c.*3358A>G
|
rs74061006
|
0.00741
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=)
|
rs61742808
|
0.00740
|
NM_014236.4(GNPAT):c.-145G>A
|
rs113752547
|
0.00739
|
NM_014946.4(SPAST):c.*51A>G
|
rs6730121
|
0.00739
|
NM_000061.3(BTK):c.531T>C (p.Pro177=)
|
rs148358153
|
0.00738
|
NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe)
|
rs113259170
|
0.00738
|
NM_152617.4(RNF168):c.1481C>T (p.Pro494Leu)
|
rs35132476
|
0.00738
|
NM_000454.5(SOD1):c.170-20T>C
|
rs17885833
|
0.00737
|
NM_003619.4(PRSS12):c.*912G>A
|
rs10212745
|
0.00737
|
NM_014946.4(SPAST):c.*1410T>G
|
rs75645928
|
0.00737
|
NM_001368809.2(AMPD2):c.223-4C>T
|
rs116223306
|
0.00736
|
NM_020944.3(GBA2):c.946G>A (p.Gly316Arg)
|
rs113785628
|
0.00736
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp)
|
rs28464796
|
0.00735
|
NM_004738.5(VAPB):c.*6088C>T
|
rs147304840
|
0.00734
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)
|
rs62000428
|
0.00732
|
NM_033064.5(ATCAY):c.*2394C>T
|
rs10406812
|
0.00732
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_001371596.2(MFSD8):c.*2464C>T
|
rs114689638
|
0.00731
|
NM_014946.4(SPAST):c.1728+16A>G
|
rs76494041
|
0.00731
|
NM_152309.3(PIK3AP1):c.1506T>C (p.Asp502=)
|
rs74496843
|
0.00731
|
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln)
|
rs75122556
|
0.00731
|
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)
|
rs45464693
|
0.00730
|
NM_001008212.2(OPTN):c.123G>A (p.Leu41=)
|
rs11591687
|
0.00729
|
NM_001371928.1(AHDC1):c.3264C>T (p.Ser1088=)
|
rs149242867
|
0.00729
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
NM_000286.3(PEX12):c.*781T>A
|
rs185900922
|
0.00728
|
NM_007055.4(POLR3A):c.*1152G>A
|
rs143418325
|
0.00728
|
NM_007055.4(POLR3A):c.3594+15G>A
|
rs116003372
|
0.00728
|
NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg)
|
rs75887545
|
0.00728
|
NM_022168.4(IFIH1):c.1641+1G>C
|
rs35337543
|
0.00728
|
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser)
|
rs114201726
|
0.00727
|
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala)
|
rs149518409
|
0.00727
|
NM_002156.5(HSPD1):c.1360T>C (p.Leu454=)
|
rs147135152
|
0.00727
|
NM_004519.4(KCNQ3):c.*5762G>A
|
rs77343115
|
0.00723
|
NM_001370658.1(BTD):c.142A>G (p.Ile48Val)
|
rs114092911
|
0.00722
|
NM_000310.4(PPT1):c.*878T>C
|
rs74638149
|
0.00721
|
NM_007327.4(GRIN1):c.1340-18_1340-17insGTA
|
rs199804460
|
0.00721
|
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val)
|
rs45496299
|
0.00721
|
NM_001844.5(COL2A1):c.708+8C>T
|
rs41317893
|
0.00720
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys)
|
rs523747
|
0.00719
|
NM_001365999.1(SZT2):c.5025-17A>G
|
rs149950330
|
0.00719
|
NM_198994.3(TGM6):c.42G>A (p.Ser14=)
|
rs149394698
|
0.00719
|
NM_001429.4(EP300):c.1168+7G>C
|
rs181755354
|
0.00718
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_153252.5(BRWD3):c.*1592G>C
|
rs180892443
|
0.00718
|
NM_153252.5(BRWD3):c.*6902G>A
|
rs188498975
|
0.00718
|
NM_000487.6(ARSA):c.*992G>A
|
rs376910590
|
0.00717
|
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=)
|
rs140831372
|
0.00717
|
NM_003477.3(PDHX):c.957G>A (p.Leu319=)
|
rs36047324
|
0.00717
|
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala)
|
rs4640000
|
0.00717
|
NM_000370.3(TTPA):c.*782C>T
|
rs114278576
|
0.00716
|
NM_001127178.3(PIGG):c.2069+16C>T
|
rs144533568
|
0.00716
|
NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)
|
rs34952009
|
0.00716
|
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
|
rs2229137
|
0.00715
|
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=)
|
rs184931664
|
0.00715
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser)
|
rs41292285
|
0.00715
|
NM_021267.5(CERS1):c.492C>T (p.Tyr164=)
|
rs45601540
|
0.00715
|
NM_001001344.3(ATP2B3):c.3052-5C>T
|
rs189012896
|
0.00714
|
NM_004115.4(FGF14):c.*744C>A
|
rs79379700
|
0.00714
|
NM_018965.4(TREM2):c.185G>A (p.Arg62His)
|
rs143332484
|
0.00714
|
NM_153252.5(BRWD3):c.*2323G>A
|
rs191690327
|
0.00713
|
NM_033343.4(LHX4):c.384C>T (p.Asp128=)
|
rs141139762
|
0.00712
|
NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=)
|
rs112835706
|
0.00711
|
NM_003659.4(AGPS):c.1704G>A (p.Thr568=)
|
rs36052691
|
0.00710
|
NM_006612.6(KIF1C):c.1751-7T>A
|
rs148404628
|
0.00709
|
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu)
|
rs56386767
|
0.00709
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
NM_003659.4(AGPS):c.*3894A>G
|
rs74988186
|
0.00708
|
NM_004035.7(ACOX1):c.*4585C>T
|
rs145992742
|
0.00708
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)
|
rs2275996
|
0.00707
|
NM_004035.7(ACOX1):c.1520T>C (p.Ile507Thr)
|
rs77139740
|
0.00707
|
NM_004738.5(VAPB):c.*753C>G
|
rs6070466
|
0.00707
|
NM_006946.4(SPTBN2):c.4985+11C>T
|
rs11227572
|
0.00707
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_003659.4(AGPS):c.*1719G>A
|
rs182366015
|
0.00706
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)
|
rs35369023
|
0.00706
|
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg)
|
rs35581768
|
0.00706
|
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr)
|
rs79724097
|
0.00706
|
NM_001365999.1(SZT2):c.7211-13C>G
|
rs116454519
|
0.00705
|
NM_001371928.1(AHDC1):c.1410C>T (p.Gly470=)
|
rs138778676
|
0.00705
|
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
|
rs78268395
|
0.00705
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
NM_024570.4(RNASEH2B):c.822+6T>C
|
rs76413207
|
0.00705
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_001244008.2(KIF1A):c.4318+17C>T
|
rs138964333
|
0.00704
|
NM_014324.6(AMACR):c.*753T>G
|
rs140021599
|
0.00704
|
NM_018082.6(POLR3B):c.-1C>T
|
rs117873765
|
0.00704
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)
|
rs116125936
|
0.00703
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=)
|
rs35972647
|
0.00702
|
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)
|
rs114095081
|
0.00702
|
NM_005051.3(QARS1):c.1635A>G (p.Gln545=)
|
rs113144521
|
0.00701
|
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)
|
rs3827522
|
0.00701
|
NM_004984.4(KIF5A):c.396+14G>A
|
rs17119769
|
0.00700
|
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=)
|
rs1800039
|
0.00699
|
NM_001130823.3(DNMT1):c.1095C>T (p.His365=)
|
rs116502459
|
0.00699
|
NM_018122.5(DARS2):c.493-3T>C
|
rs140326200
|
0.00699
|
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile)
|
rs116746734
|
0.00699
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=)
|
rs144093014
|
0.00698
|
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser)
|
rs61756316
|
0.00698
|
NM_024411.5(PDYN):c.436A>C (p.Met146Leu)
|
rs77155664
|
0.00698
|
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)
|
rs115959591
|
0.00697
|
NM_025136.4(OPA3):c.*1855T>C
|
rs146599259
|
0.00697
|
NM_003070.5(SMARCA2):c.669G>A (p.Gln223=)
|
rs62639301
|
0.00696
|
NM_001846.4(COL4A2):c.574G>T (p.Val192Phe)
|
rs62621885
|
0.00695
|
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val)
|
rs59248588
|
0.00694
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_001122752.2(SERPINI1):c.881+10T>G
|
rs113533056
|
0.00693
|
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp)
|
rs117498128
|
0.00693
|
NM_001386140.1(MTTP):c.*267A>C
|
rs79992570
|
0.00692
|
NM_000330.4(RS1):c.523-10A>C
|
rs142428831
|
0.00691
|
NM_001015877.2(PHF6):c.729+4A>G
|
rs188961105
|
0.00691
|
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)
|
rs138683183
|
0.00691
|
NM_014043.4(CHMP2B):c.*1588C>T
|
rs11426
|
0.00691
|
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly)
|
rs116059308
|
0.00690
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile)
|
rs1805023
|
0.00690
|
NM_014365.3(HSPB8):c.*581G>A
|
rs56754798
|
0.00690
|
NM_152564.5(VPS13B):c.2934+14A>T
|
rs187151724
|
0.00690
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr)
|
rs74055693
|
0.00689
|
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)
|
rs61757217
|
0.00689
|
NM_130837.3(OPA1):c.*623G>A
|
rs146468889
|
0.00689
|
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)
|
rs55685423
|
0.00688
|
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
|
rs71653619
|
0.00688
|
NM_014363.6(SACS):c.4188C>T (p.His1396=)
|
rs61754477
|
0.00688
|
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)
|
rs9550956
|
0.00688
|
NM_032581.4(HYCC1):c.992-11T>G
|
rs115772574
|
0.00688
|
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=)
|
rs145969836
|
0.00688
|
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=)
|
rs145648860
|
0.00688
|
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
NM_001330723.2(SNX27):c.1155C>T (p.Val385=)
|
rs115166911
|
0.00687
|
NM_002047.4(GARS1):c.*73A>G
|
rs113598818
|
0.00687
|
NM_012281.3(KCND2):c.456G>A (p.Ala152=)
|
rs116322872
|
0.00687
|
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val)
|
rs115180949
|
0.00686
|
NM_002617.4(PEX10):c.685G>C (p.Val229Leu)
|
rs139345520
|
0.00686
|
NM_005027.4(PIK3R2):c.415+18dup
|
rs200295171
|
0.00686
|
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met)
|
rs116604393
|
0.00685
|
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926
|
0.00685
|
NM_003072.5(SMARCA4):c.4768+16G>T
|
rs151265814
|
0.00684
|
NM_005211.4(CSF1R):c.-187G>A
|
rs11740408
|
0.00684
|
NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys)
|
rs2912838
|
0.00684
|
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)
|
rs75559202
|
0.00684
|
NM_001110792.2(MECP2):c.*3878G>C
|
rs148230889
|
0.00683
|
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)
|
rs150895887
|
0.00683
|
NM_003334.4(UBA1):c.2308A>C (p.Asn770His)
|
rs143044923
|
0.00683
|
NM_004035.7(ACOX1):c.*1977C>T
|
rs141097660
|
0.00683
|
NM_004204.5(PIGQ):c.1336-11C>G
|
rs57125048
|
0.00683
|
NM_004204.5(PIGQ):c.1531+11C>T
|
rs143549408
|
0.00683
|
NM_021625.5(TRPV4):c.1341C>T (p.His447=)
|
rs57316123
|
0.00683
|
NM_033064.5(ATCAY):c.*1180C>T
|
rs140608538
|
0.00683
|
NM_001161352.2(KCNMA1):c.1749+11G>A
|
rs116546993
|
0.00682
|
NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe)
|
rs17502618
|
0.00682
|
NM_171998.4(RAB39B):c.*1006A>G
|
rs138077054
|
0.00682
|
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)
|
rs56379718
|
0.00681
|
NM_032273.4(TMEM126A):c.395+5G>A
|
rs115906592
|
0.00680
|
NM_033343.4(LHX4):c.*130C>T
|
rs59623342
|
0.00680
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys)
|
rs60414549
|
0.00678
|
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)
|
rs75220808
|
0.00678
|
NM_005045.4(RELN):c.6078C>T (p.Asn2026=)
|
rs79610081
|
0.00676
|
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)
|
rs151091241
|
0.00676
|
NM_000098.3(CPT2):c.302C>T (p.Ala101Val)
|
rs75939866
|
0.00675
|
NM_001242896.3(DEPDC5):c.2139A>G (p.Leu713=)
|
rs16989536
|
0.00675
|
NM_007375.4(TARDBP):c.675A>G (p.Pro225=)
|
rs61741294
|
0.00675
|
NM_025136.4(OPA3):c.*5905G>A
|
rs116705343
|
0.00675
|
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)
|
rs150942467
|
0.00675
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
NM_000306.4(POU1F1):c.666-5G>A
|
rs76296626
|
0.00674
|
NM_016373.4(WWOX):c.613C>A (p.His205Asn)
|
rs74860463
|
0.00674
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_001374828.1(ARID1B):c.2137-3T>A
|
rs116661275
|
0.00673
|
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623
|
0.00673
|
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu)
|
rs145082938
|
0.00672
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_001845.6(COL4A1):c.4640+8G>A
|
rs117566874
|
0.00671
|
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)
|
rs149416418
|
0.00671
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_016955.4(SEPSECS):c.*3775A>G
|
rs115004931
|
0.00670
|
NM_130837.3(OPA1):c.*1031A>T
|
rs114606850
|
0.00670
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
NM_000484.4(APP):c.*967G>A
|
rs45541739
|
0.00669
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_018834.6(MATR3):c.*1482A>T
|
rs79616595
|
0.00669
|
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=)
|
rs35466065
|
0.00669
|
NM_002541.4(OGDH):c.164C>T (p.Ser55Leu)
|
rs2230445
|
0.00668
|
NM_012193.4(FZD4):c.*5451G>A
|
rs58750277
|
0.00668
|
NM_025136.4(OPA3):c.*6767G>A
|
rs142898530
|
0.00668
|
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile)
|
rs61745119
|
0.00667
|
NM_007126.5(VCP):c.1082-9G>T
|
rs12349922
|
0.00667
|
NM_014855.3(AP5Z1):c.-3G>A
|
rs142983676
|
0.00667
|
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=)
|
rs59636120
|
0.00667
|
NM_025137.4(SPG11):c.2621-15T>G
|
rs188590034
|
0.00667
|
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)
|
rs75077312
|
0.00666
|
NM_005097.4(LGI1):c.216-55T>C
|
rs143132529
|
0.00666
|
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)
|
rs200121704
|
0.00665
|
NM_012193.4(FZD4):c.*827A>G
|
rs61088092
|
0.00664
|
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=)
|
rs17082484
|
0.00664
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_001182.4(ALDH7A1):c.-117G>T
|
rs146562077
|
0.00663
|
NM_004722.4(AP4M1):c.228C>T (p.Pro76=)
|
rs41280965
|
0.00663
|
NM_005051.3(QARS1):c.1615-17C>G
|
rs138271247
|
0.00663
|
NM_198586.3(NHLRC1):c.*344A>T
|
rs147528518
|
0.00663
|
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)
|
rs139815570
|
0.00662
|
NM_003690.5(PRKRA):c.795C>T (p.Ser265=)
|
rs150679361
|
0.00662
|
NM_012179.4(FBXO7):c.1125A>G (p.Leu375=)
|
rs147911892
|
0.00660
|
NM_001122752.2(SERPINI1):c.250+13A>G
|
rs77880879
|
0.00659
|
NM_020247.5(COQ8A):c.*727C>T
|
rs16846762
|
0.00659
|
NM_000153.4(GALC):c.1788C>T (p.Phe596=)
|
rs115018138
|
0.00658
|
NM_001010867.4(IBA57):c.462C>T (p.His154=)
|
rs148398789
|
0.00658
|
NM_020247.5(COQ8A):c.655+9G>A
|
rs146526153
|
0.00658
|
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu)
|
rs35987150
|
0.00658
|
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=)
|
rs11537737
|
0.00657
|
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)
|
rs61734948
|
0.00656
|
NM_004204.5(PIGQ):c.75G>A (p.Pro25=)
|
rs56293456
|
0.00656
|
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)
|
rs140843407
|
0.00656
|
NM_000702.4(ATP1A2):c.*72G>A
|
rs2070701
|
0.00654
|
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn)
|
rs201636725
|
0.00654
|
NM_015046.7(SETX):c.1968A>G (p.Val656=)
|
rs113997459
|
0.00654
|
NM_182961.4(SYNE1):c.9972+19A>G
|
rs77322999
|
0.00654
|
NM_000153.4(GALC):c.195+10A>G
|
rs191767015
|
0.00653
|
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)
|
rs116333061
|
0.00653
|
NM_152743.4(BRAT1):c.993G>A (p.Thr331=)
|
rs76646873
|
0.00653
|
NM_024989.4(PGAP1):c.1952+10A>C
|
rs7609297
|
0.00652
|
NM_033305.3(VPS13A):c.8472-12C>T
|
rs115077471
|
0.00651
|
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln)
|
rs61754113
|
0.00651
|
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)
|
rs143119940
|
0.00650
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_007055.4(POLR3A):c.3279C>T (p.Asp1093=)
|
rs77540138
|
0.00650
|
NM_012193.4(FZD4):c.*3402G>T
|
rs139460265
|
0.00650
|
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu)
|
rs114954026
|
0.00650
|
NM_002617.4(PEX10):c.318G>A (p.Leu106=)
|
rs146452560
|
0.00649
|
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn)
|
rs116000545
|
0.00649
|
NM_003383.5(VLDLR):c.449-12C>T
|
rs73640152
|
0.00648
|
NM_005045.4(RELN):c.9524A>C (p.His3175Pro)
|
rs74513461
|
0.00648
|
NM_182961.4(SYNE1):c.25120-16G>T
|
rs139671151
|
0.00648
|
NM_000286.3(PEX12):c.867C>T (p.Asp289=)
|
rs138720627
|
0.00647
|
NM_152309.3(PIK3AP1):c.1092G>A (p.Ala364=)
|
rs35035564
|
0.00647
|
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=)
|
rs181024112
|
0.00646
|
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)
|
rs142030651
|
0.00646
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)
|
rs112955915
|
0.00645
|
NM_001029896.2(WDR45):c.838G>A (p.Val280Met)
|
rs149509552
|
0.00644
|
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=)
|
rs115338343
|
0.00644
|
NM_004082.5(DCTN1):c.3529+5G>A
|
rs72466494
|
0.00644
|
NM_016955.4(SEPSECS):c.935-5T>G
|
rs2302564
|
0.00644
|
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=)
|
rs145353928
|
0.00643
|
NM_001379500.1(COL18A1):c.*6G>A
|
rs138930698
|
0.00643
|
NM_024411.5(PDYN):c.*1443G>A
|
rs148395893
|
0.00643
|
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=)
|
rs146280301
|
0.00643
|
NM_001199107.2(TBC1D24):c.*3408C>T
|
rs9935554
|
0.00642
|
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)
|
rs75867009
|
0.00642
|
NM_002047.2(GARS1):c.-225G>A
|
rs148593022
|
0.00641
|
NM_020988.3(GNAO1):c.161+8C>T
|
rs145872570
|
0.00641
|
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=)
|
rs139753431
|
0.00641
|
NM_000925.3(PDHB):c.-26G>A
|
rs201243189
|
0.00640
|
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln)
|
rs34452707
|
0.00640
|
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=)
|
rs113472164
|
0.00639
|
NM_018319.4(TDP1):c.1098A>G (p.Gln366=)
|
rs34563565
|
0.00639
|
NM_033305.3(VPS13A):c.3813-15T>C
|
rs145835861
|
0.00639
|
NM_000405.5(GM2A):c.*790C>T
|
rs181571430
|
0.00637
|
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)
|
rs138127778
|
0.00637
|
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)
|
rs35738915
|
0.00636
|
NM_001165963.4(SCN1A):c.384-20G>C
|
rs192956852
|
0.00635
|
NM_002087.3(GRN):c.-72G>T
|
rs76783532
|
0.00635
|
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=)
|
rs187252584
|
0.00635
|
NM_198994.3(TGM6):c.1656C>T (p.Ala552=)
|
rs75601099
|
0.00634
|
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)
|
rs112201716
|
0.00633
|
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val)
|
rs35378260
|
0.00633
|
NM_001288705.3(CSF1R):c.*604A>G
|
rs150244467
|
0.00631
|
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=)
|
rs7049358
|
0.00631
|
NM_020708.5(SLC12A5):c.482-5T>C
|
rs147042920
|
0.00631
|
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=)
|
rs61750378
|
0.00631
|
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala)
|
rs34837068
|
0.00631
|
NM_003332.4(TYROBP):c.94+10G>C
|
rs55746266
|
0.00630
|
NM_152564.5(VPS13B):c.2451T>C (p.His817=)
|
rs114120664
|
0.00630
|
NM_003119.4(SPG7):c.1936+12C>T
|
rs112379588
|
0.00628
|
NM_001165963.4(SCN1A):c.*1952T>C
|
rs184794128
|
0.00627
|
NM_001378120.1(MBD5):c.2519-18T>G
|
rs555177897
|
0.00625
|
NM_001382391.1(CSPP1):c.3220+13A>G
|
rs139491415
|
0.00625
|
NM_002137.4(HNRNPA2B1):c.841+6A>G
|
rs144309126
|
0.00625
|
NM_003070.5(SMARCA2):c.*138C>T
|
rs75720779
|
0.00625
|
NM_016955.4(SEPSECS):c.*2123A>G
|
rs142960382
|
0.00625
|
NM_152743.4(BRAT1):c.1884C>T (p.Ala628=)
|
rs142346283
|
0.00625
|
NM_001083614.2(EARS2):c.402C>T (p.Thr134=)
|
rs116657756
|
0.00624
|
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=)
|
rs140084263
|
0.00624
|
NM_001191061.2(SLC25A22):c.*712T>C
|
rs114476401
|
0.00623
|
NM_004519.4(KCNQ3):c.*4736G>A
|
rs114070302
|
0.00623
|
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=)
|
rs114337467
|
0.00622
|
NM_015166.4(MLC1):c.932T>A (p.Val311Glu)
|
rs141225099
|
0.00622
|
NM_000447.3(PSEN2):c.756G>C (p.Ala252=)
|
rs147702142
|
0.00621
|
NM_001199107.2(TBC1D24):c.*1659G>A
|
rs115543208
|
0.00621
|
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)
|
rs75860381
|
0.00621
|
NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met)
|
rs72546327
|
0.00621
|
NM_000061.3(BTK):c.141+11C>T
|
rs138411530
|
0.00620
|
NM_000170.3(GLDC):c.2919+3A>G
|
rs73639325
|
0.00620
|
NM_005591.4(MRE11):c.*2466T>C
|
rs13447758
|
0.00620
|
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)
|
rs35455108
|
0.00620
|
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly)
|
rs34982958
|
0.00620
|
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser)
|
rs34551839
|
0.00619
|
NM_001386140.1(MTTP):c.*588A>G
|
rs184236038
|
0.00619
|
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln)
|
rs73826386
|
0.00619
|
NM_007126.5(VCP):c.1092C>T (p.Asp364=)
|
rs61752947
|
0.00619
|
NM_017755.6(NSUN2):c.-27C>A
|
rs190264173
|
0.00619
|
NM_001385875.1(ZFYVE27):c.*1517G>C
|
rs41290466
|
0.00618
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_025243.4(SLC19A3):c.309G>A (p.Val103=)
|
rs142837989
|
0.00618
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys)
|
rs149207118
|
0.00617
|
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
|
rs16020
|
0.00616
|
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)
|
rs16026
|
0.00616
|
NM_001134407.3(GRIN2A):c.*2396G>A
|
rs113138480
|
0.00616
|
NM_001134407.3(GRIN2A):c.*4036A>G
|
rs9921182
|
0.00616
|
NM_005591.4(MRE11):c.*1083T>C
|
rs118070493
|
0.00616
|
NM_018082.6(POLR3B):c.*582C>G
|
rs75217257
|
0.00616
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
NM_173354.5(SIK1):c.906C>T (p.Gly302=)
|
rs113379599
|
0.00615
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=)
|
rs116134831
|
0.00613
|
NM_033629.6(TREX1):c.462T>C (p.Asp154=)
|
rs3135944
|
0.00613
|
NM_003924.4(PHOX2B):c.*80G>A
|
rs75913938
|
0.00612
|
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=)
|
rs181646656
|
0.00612
|
NM_006308.3(HSPB3):c.355A>G (p.Lys119Glu)
|
rs41270303
|
0.00612
|
NM_012193.4(FZD4):c.*4335T>C
|
rs141874425
|
0.00612
|
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=)
|
rs140852252
|
0.00612
|
NM_001160148.2(DDHD1):c.453G>A (p.Pro151=)
|
rs141323589
|
0.00610
|
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=)
|
rs59297244
|
0.00610
|
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)
|
rs72768728
|
0.00609
|
NM_007254.4(PNKP):c.*15C>T
|
rs1050332
|
0.00609
|
NM_173354.5(SIK1):c.930T>C (p.Gly310=)
|
rs112660017
|
0.00609
|
NM_203446.3(SYNJ1):c.*611C>T
|
rs76056543
|
0.00609
|
NM_001385875.1(ZFYVE27):c.516C>T (p.Arg172=)
|
rs116366646
|
0.00608
|
NM_003659.4(AGPS):c.*1364A>G
|
rs144780787
|
0.00608
|
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)
|
rs113671330
|
0.00608
|
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=)
|
rs58615599
|
0.00607
|
NM_033343.4(LHX4):c.*445G>T
|
rs57069480
|
0.00607
|
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=)
|
rs147591223
|
0.00606
|
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)
|
rs116890187
|
0.00606
|
NM_138959.3(VANGL1):c.*1627A>G
|
rs149888685
|
0.00606
|
NM_001037.5(SCN1B):c.*76G>T
|
rs367768639
|
0.00605
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_006796.3(AFG3L2):c.-71C>T
|
rs571340907
|
0.00605
|
NM_021098.3(CACNA1H):c.5840C>T (p.Pro1947Leu)
|
rs59935412
|
0.00605
|
NM_005120.3(MED12):c.2886C>T (p.Ser962=)
|
rs34761462
|
0.00604
|
NM_006070.6(TFG):c.663C>A (p.Gly221=)
|
rs140669729
|
0.00603
|
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser)
|
rs7901902
|
0.00603
|
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr)
|
rs183580097
|
0.00602
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)
|
rs35493783
|
0.00602
|
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser)
|
rs147103646
|
0.00601
|
NM_022464.5(SIL1):c.454-6C>T
|
rs58624842
|
0.00601
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_005591.4(MRE11):c.*2053T>C
|
rs13447754
|
0.00600
|
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_001195248.2(APTX):c.596G>A (p.Arg199His)
|
rs150886026
|
0.00598
|
NM_005591.4(MRE11):c.*2067A>G
|
rs13447755
|
0.00598
|
NM_145725.3(TRAF3):c.189G>A (p.Pro63=)
|
rs142350527
|
0.00598
|
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser)
|
rs140451075
|
0.00598
|
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=)
|
rs35854729
|
0.00598
|
NM_003070.5(SMARCA2):c.*726T>C
|
rs28374302
|
0.00597
|
NM_004385.5(VCAN):c.2887C>T (p.Pro963Ser)
|
rs76914270
|
0.00597
|
NM_005591.4(MRE11):c.2071-53G>T
|
rs13447742
|
0.00597
|
NM_014053.4(FLVCR1):c.*500G>A
|
rs41301023
|
0.00597
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
NM_001199107.2(TBC1D24):c.*389C>A
|
rs189378766
|
0.00596
|
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=)
|
rs112461557
|
0.00596
|
NM_003977.4(AIP):c.*64G>A
|
rs115346238
|
0.00596
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
NM_017882.3(CLN6):c.*667G>A
|
rs111879561
|
0.00596
|
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr)
|
rs148651456
|
0.00596
|
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile)
|
rs35654757
|
0.00596
|
NM_002156.5(HSPD1):c.144C>T (p.Ala48=)
|
rs11551346
|
0.00595
|
NM_014855.3(AP5Z1):c.791-5C>T
|
rs73671921
|
0.00595
|
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=)
|
rs146292053
|
0.00593
|
NM_024306.5(FA2H):c.*34G>A
|
rs75856125
|
0.00592
|
NM_001367561.1(DOCK7):c.6381-19C>T
|
rs146910328
|
0.00591
|
NM_002180.3(IGHMBP2):c.*744G>A
|
rs116625875
|
0.00591
|
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln)
|
rs57633676
|
0.00591
|
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)
|
rs77675624
|
0.00591
|
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser)
|
rs34786733
|
0.00590
|
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)
|
rs6351
|
0.00589
|
NM_001253852.3(AP4B1):c.1793-9C>G
|
rs17031980
|
0.00589
|
NM_001134407.3(GRIN2A):c.*7349C>T
|
rs191366035
|
0.00588
|
NM_001365088.1(SLC12A6):c.1269C>T (p.Tyr423=)
|
rs114911287
|
0.00588
|
NM_001378120.1(MBD5):c.1596A>G (p.Val532=)
|
rs114611333
|
0.00588
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
NM_001182.5(ALDH7A1):c.1094-20C>G
|
rs113775968
|
0.00586
|
NM_001257180.2(SLC20A2):c.*113A>T
|
rs115989387
|
0.00586
|
NM_004519.4(KCNQ3):c.*4817G>A
|
rs76758430
|
0.00586
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_000702.4(ATP1A2):c.*1781C>T
|
rs116744472
|
0.00585
|
NM_001257180.2(SLC20A2):c.*112G>T
|
rs114729286
|
0.00585
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
NM_000287.4(PEX6):c.813G>T (p.Ala271=)
|
rs35503676
|
0.00583
|
NM_002361.4(MAG):c.1657A>C (p.Asn553His)
|
rs141352771
|
0.00583
|
NM_002609.4(PDGFRB):c.365-4G>T
|
rs139448702
|
0.00583
|
NM_000081.4(LYST):c.7059+7G>A
|
rs111764031
|
0.00582
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
NM_021625.5(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344
|
0.00582
|
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)
|
rs138687767
|
0.00582
|
NM_001379500.1(COL18A1):c.612C>T (p.Phe204=)
|
rs373748503
|
0.00581
|
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly)
|
rs112601869
|
0.00580
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=)
|
rs138396245
|
0.00580
|
NM_001165963.4(SCN1A):c.2177-10C>T
|
rs199507113
|
0.00579
|
NM_182961.4(SYNE1):c.4789-13G>A
|
rs142900784
|
0.00579
|
NM_001003787.4(STRADA):c.858+15C>T
|
rs139115897
|
0.00578
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
NM_003072.5(SMARCA4):c.2002-19T>C
|
rs111899994
|
0.00578
|
NM_000811.3(GABRA6):c.594C>A (p.Val198=)
|
rs143830239
|
0.00577
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)
|
rs148144444
|
0.00577
|
NM_033064.5(ATCAY):c.*7G>A
|
rs60814801
|
0.00577
|
NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_001371727.1(GABRB2):c.438C>G (p.Gly146=)
|
rs2964779
|
0.00576
|
NM_032581.4(HYCC1):c.743+20C>T
|
rs141076998
|
0.00576
|
NM_001130438.3(SPTAN1):c.3520-14C>G
|
rs142682344
|
0.00575
|
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=)
|
rs116086579
|
0.00575
|
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=)
|
rs35047189
|
0.00575
|
NM_005149.3(TBX19):c.1122C>T (p.His374=)
|
rs34885709
|
0.00575
|
NM_173354.5(SIK1):c.1463-7C>T
|
rs142866662
|
0.00575
|
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)
|
rs73969684
|
0.00574
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_004483.5(GCSH):c.292+9T>G
|
rs8177909
|
0.00574
|
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly)
|
rs114232513
|
0.00574
|
NM_198994.3(TGM6):c.1657G>A (p.Val553Met)
|
rs74338361
|
0.00574
|
NM_012193.4(FZD4):c.*764T>C
|
rs145679440
|
0.00573
|
NM_005619.5(RTN2):c.1143G>A (p.Ala381=)
|
rs45532933
|
0.00572
|
NM_001367561.1(DOCK7):c.1392A>G (p.Pro464=)
|
rs116172511
|
0.00571
|
NM_004035.7(ACOX1):c.1794G>T (p.Leu598=)
|
rs79605652
|
0.00571
|
NM_173500.4(TTBK2):c.*966C>T
|
rs145576687
|
0.00571
|
NM_001195248.2(APTX):c.*187G>C
|
rs113638548
|
0.00570
|
NM_001195248.2(APTX):c.*806G>A
|
rs113556331
|
0.00570
|
NM_015046.7(SETX):c.*319C>T
|
rs1056912
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_000108.5(DLD):c.*887T>C
|
rs16872396
|
0.00569
|
NM_000521.4(HEXB):c.276C>T (p.Thr92=)
|
rs140509633
|
0.00569
|
NM_001540.4(HSPB1):c.-46C>T
|
rs35907174
|
0.00569
|
NM_018082.6(POLR3B):c.2877C>T (p.His959=)
|
rs148708579
|
0.00569
|
NM_145725.3(TRAF3):c.297+12T>G
|
rs184812720
|
0.00569
|
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)
|
rs34778324
|
0.00568
|
NM_015338.6(ASXL1):c.2395G>T (p.Asp799Tyr)
|
rs143594454
|
0.00568
|
NM_001195248.2(APTX):c.*606G>A
|
rs111430445
|
0.00567
|
NM_001909.5(CTSD):c.846G>A (p.Gly282=)
|
rs112021026
|
0.00567
|
NM_003977.4(AIP):c.*60G>C
|
rs146014363
|
0.00566
|
NM_005149.3(TBX19):c.*544G>A
|
rs144304383
|
0.00566
|
NM_020631.6(PLEKHG5):c.*27T>C
|
rs117494970
|
0.00566
|
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=)
|
rs139362680
|
0.00566
|
NM_003719.5(PDE8B):c.*1590T>A
|
rs1580
|
0.00565
|
NM_021625.5(TRPV4):c.*423G>A
|
rs151286044
|
0.00565
|
NM_025219.3(DNAJC5):c.*2878T>C
|
rs749724
|
0.00565
|
NM_153252.5(BRWD3):c.2325+5G>A
|
rs186391561
|
0.00565
|
NM_198578.4(LRRK2):c.*346A>G
|
rs17520676
|
0.00565
|
NM_001385875.1(ZFYVE27):c.32C>T (p.Pro11Leu)
|
rs112316490
|
0.00564
|
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=)
|
rs142144538
|
0.00564
|
NM_001195248.2(APTX):c.*454G>C
|
rs138490250
|
0.00563
|
NM_001365088.1(SLC12A6):c.*2369C>T
|
rs148928495
|
0.00563
|
NM_015192.4(PLCB1):c.2309-15A>C
|
rs117816042
|
0.00563
|
NM_025233.7(COASY):c.1666A>G (p.Ile556Val)
|
rs140982382
|
0.00563
|
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=)
|
rs144475533
|
0.00560
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_000096.4(CP):c.*474T>C
|
rs34936395
|
0.00559
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)
|
rs138123155
|
0.00559
|
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)
|
rs117995220
|
0.00559
|
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=)
|
rs114699935
|
0.00559
|
NM_003119.4(SPG7):c.1937-16C>G
|
rs74590011
|
0.00558
|
NM_005045.4(RELN):c.621C>T (p.Asp207=)
|
rs114627891
|
0.00558
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
NM_021098.3(CACNA1H):c.5324-4G>A
|
rs57687113
|
0.00558
|
NM_004115.4(FGF14):c.*554G>A
|
rs141793298
|
0.00557
|
NM_017791.3(FLVCR2):c.*573C>T
|
rs116699854
|
0.00556
|
NM_006030.4(CACNA2D2):c.405+20G>A
|
rs3213520
|
0.00555
|
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met)
|
rs61736451
|
0.00554
|
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro)
|
rs35426403
|
0.00554
|
NM_017791.3(FLVCR2):c.953-14G>A
|
rs115200097
|
0.00554
|
NM_021098.3(CACNA1H):c.6048+12C>T
|
rs192277843
|
0.00554
|
NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val)
|
rs78300927
|
0.00553
|
NM_001130823.3(DNMT1):c.117+19T>C
|
rs77954383
|
0.00552
|
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=)
|
rs75443147
|
0.00552
|
NM_016955.4(SEPSECS):c.*454C>T
|
rs77936887
|
0.00552
|
NM_031448.6(C19orf12):c.-11+181T>C
|
rs186970109
|
0.00552
|
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=)
|
rs115428827
|
0.00551
|
NM_001130823.3(DNMT1):c.4294-17C>A
|
rs79585069
|
0.00551
|
NM_001130823.3(DNMT1):c.4294-19G>C
|
rs2290683
|
0.00551
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_004960.4(FUS):c.*41G>A
|
rs80301724
|
0.00551
|
NM_152743.4(BRAT1):c.803+11C>T
|
rs150359205
|
0.00551
|
NM_003265.3(TLR3):c.838G>A (p.Asp280Asn)
|
rs112077022
|
0.00550
|
NM_005619.5(RTN2):c.444C>G (p.Gly148=)
|
rs139232850
|
0.00550
|
NM_152617.4(RNF168):c.1284A>G (p.Lys428=)
|
rs78211871
|
0.00550
|
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)
|
rs2734715
|
0.00549
|
NM_002693.3(POLG):c.1024-38C>T
|
rs138069091
|
0.00549
|
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=)
|
rs139718656
|
0.00549
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_001130823.3(DNMT1):c.2382-4C>T
|
rs74505694
|
0.00548
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090
|
0.00548
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00548
|
NM_003072.5(SMARCA4):c.222+14T>C
|
rs112825147
|
0.00548
|
NM_003334.4(UBA1):c.2364C>T (p.Ala788=)
|
rs2228658
|
0.00548
|
NM_004565.3(PEX14):c.504G>A (p.Thr168=)
|
rs146781531
|
0.00548
|
NM_005591.4(MRE11):c.2092A>G (p.Met698Val)
|
rs1805362
|
0.00548
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
NM_015046.7(SETX):c.5275-43T>C
|
rs144258500
|
0.00547
|
NM_021625.5(TRPV4):c.1153-10C>T
|
rs149541389
|
0.00547
|
NM_001845.6(COL4A1):c.393G>A (p.Glu131=)
|
rs34458255
|
0.00546
|
NM_002361.4(MAG):c.47-4G>T
|
rs147119099
|
0.00546
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=)
|
rs148493518
|
0.00546
|
NM_003265.3(TLR3):c.2556T>G (p.Leu852=)
|
rs115677523
|
0.00545
|
NM_003977.4(AIP):c.891C>A (p.Ala297=)
|
rs35665586
|
0.00545
|
NM_014844.5(TECPR2):c.4082-16G>A
|
rs116168966
|
0.00545
|
NM_001195248.2(APTX):c.*756G>A
|
rs115295647
|
0.00544
|
NM_005334.3(HCFC1):c.1445-14C>T
|
rs184593569
|
0.00544
|
NM_153638.4(PANK2):c.276G>A (p.Arg92=)
|
rs142832849
|
0.00544
|
NM_001205293.3(CACNA1E):c.3263-16C>T
|
rs74127837
|
0.00543
|
NM_007347.5(AP4E1):c.171G>A (p.Gln57=)
|
rs28463775
|
0.00543
|
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys)
|
rs2307447
|
0.00542
|
NM_018319.4(TDP1):c.*1105A>G
|
rs34815305
|
0.00542
|
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)
|
rs60218977
|
0.00542
|
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)
|
rs35078611
|
0.00542
|
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)
|
rs142094773
|
0.00541
|
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=)
|
rs13296987
|
0.00541
|
NM_015915.5(ATL1):c.*305T>C
|
rs2291674
|
0.00541
|
NM_198904.4(GABRG2):c.360G>A (p.Thr120=)
|
rs77298346
|
0.00541
|
NM_002180.3(IGHMBP2):c.1538-8C>G
|
rs115320302
|
0.00540
|
NM_004181.5(UCHL1):c.558C>T (p.Gly186=)
|
rs116680633
|
0.00540
|
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser)
|
rs34058554
|
0.00540
|
NM_001385875.1(ZFYVE27):c.*1310T>C
|
rs147739377
|
0.00539
|
NM_025136.4(OPA3):c.*362T>C
|
rs73942919
|
0.00539
|
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=)
|
rs45600931
|
0.00538
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=)
|
rs150391716
|
0.00538
|
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys)
|
rs149842031
|
0.00537
|
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)
|
rs115338154
|
0.00537
|
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)
|
rs140916001
|
0.00537
|
NM_004181.5(UCHL1):c.*309T>C
|
rs78683791
|
0.00537
|
NM_152415.3(VPS37A):c.315+14A>C
|
rs59713854
|
0.00537
|
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys)
|
rs34398018
|
0.00536
|
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=)
|
rs111518952
|
0.00536
|
NM_001371928.1(AHDC1):c.1411G>A (p.Val471Met)
|
rs147276945
|
0.00535
|
NM_002857.3(PEX19):c.-14T>G
|
rs2301297
|
0.00535
|
NM_004813.4(PEX16):c.952+18C>T
|
rs112068553
|
0.00535
|
NM_005045.4(RELN):c.1075G>A (p.Val359Ile)
|
rs114926265
|
0.00535
|
NM_015338.6(ASXL1):c.1965C>T (p.Thr655=)
|
rs79865730
|
0.00535
|
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)
|
rs149796549
|
0.00535
|
NM_018834.6(MATR3):c.*1087G>C
|
rs116660718
|
0.00535
|
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=)
|
rs148502910
|
0.00534
|
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr)
|
rs61735931
|
0.00533
|
NM_002087.4(GRN):c.42G>A (p.Leu14=)
|
rs111435385
|
0.00533
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_000108.5(DLD):c.*1074C>G
|
rs149275540
|
0.00531
|
NM_000310.4(PPT1):c.363-18C>G
|
rs143235344
|
0.00531
|
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
|
rs115623439
|
0.00531
|
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454
|
0.00531
|
NM_015915.5(ATL1):c.1230G>A (p.Gly410=)
|
rs148548325
|
0.00531
|
NM_153252.5(BRWD3):c.597A>C (p.Ser199=)
|
rs142085721
|
0.00531
|
NM_002858.4(ABCD3):c.155G>T (p.Gly52Val)
|
rs142075958
|
0.00530
|
NM_004738.5(VAPB):c.*1641G>A
|
rs116584680
|
0.00529
|
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=)
|
rs75248974
|
0.00528
|
NM_144599.5(NIPA1):c.*3910G>A
|
rs74767096
|
0.00528
|
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=)
|
rs150771329
|
0.00528
|
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met)
|
rs150912982
|
0.00528
|
NM_001040142.2(SCN2A):c.*417C>T
|
rs141754622
|
0.00527
|
NM_001386140.1(MTTP):c.*796C>T
|
rs551084925
|
0.00527
|
NM_032581.4(HYCC1):c.1555T>C (p.Ser519Pro)
|
rs76265662
|
0.00527
|
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln)
|
rs35507033
|
0.00526
|
NM_001008212.2(OPTN):c.963C>T (p.Ser321=)
|
rs150381274
|
0.00525
|
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)
|
rs34249695
|
0.00525
|
NM_001271803.2(REEP2):c.696+13G>A
|
rs190729345
|
0.00525
|
NM_004385.5(VCAN):c.2875A>T (p.Ser959Cys)
|
rs78164236
|
0.00525
|
NM_006946.4(SPTBN2):c.6723-14C>T
|
rs186232313
|
0.00525
|
NM_182961.4(SYNE1):c.10557A>T (p.Ser3519=)
|
rs73784326
|
0.00525
|
NM_000447.3(PSEN2):c.*405G>T
|
rs116807339
|
0.00524
|
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)
|
rs115652716
|
0.00524
|
NM_016955.4(SEPSECS):c.*2840T>C
|
rs144070806
|
0.00524
|
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)
|
rs63750412
|
0.00523
|
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)
|
rs149417689
|
0.00523
|
NM_002617.4(PEX10):c.6C>G (p.Ala2=)
|
rs112471479
|
0.00523
|
NM_005149.3(TBX19):c.761T>C (p.Val254Ala)
|
rs77425733
|
0.00523
|
NM_006612.6(KIF1C):c.2105C>T (p.Thr702Ile)
|
rs138935423
|
0.00523
|
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp)
|
rs141361080
|
0.00523
|
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly)
|
rs75430389
|
0.00523
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
NM_021072.4(HCN1):c.1012-14A>G
|
rs112775315
|
0.00521
|
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)
|
rs35012521
|
0.00520
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_004738.5(VAPB):c.*6619G>A
|
rs79091887
|
0.00520
|
NM_001350451.2(RBFOX3):c.998+9G>T
|
rs79080598
|
0.00519
|
NM_018325.5(C9orf72):c.*1469T>A
|
rs141012074
|
0.00519
|
NM_025137.4(SPG11):c.993C>T (p.Ser331=)
|
rs76823973
|
0.00519
|
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=)
|
rs79720897
|
0.00518
|
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser)
|
rs139688311
|
0.00518
|
NM_007327.4(GRIN1):c.1548G>A (p.Pro516=)
|
rs75783429
|
0.00518
|
NM_025136.4(OPA3):c.*6442A>G
|
rs76825983
|
0.00518
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00517
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr)
|
rs138308486
|
0.00517
|
NM_000454.5(SOD1):c.-48T>A
|
rs142752986
|
0.00516
|
NM_000726.5(CACNB4):c.-25G>T
|
rs143675846
|
0.00516
|
NM_002055.5(GFAP):c.957G>A (p.Arg319=)
|
rs61733890
|
0.00516
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_004565.3(PEX14):c.873C>T (p.His291=)
|
rs115117459
|
0.00516
|
NM_006267.5(RANBP2):c.73-6T>A
|
rs201485597
|
0.00516
|
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)
|
rs45559331
|
0.00516
|
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)
|
rs115913736
|
0.00515
|
NM_005359.6(SMAD4):c.*3398A>G
|
rs182735651
|
0.00515
|
NM_001037.5(SCN1B):c.*401G>A
|
rs72550268
|
0.00514
|
NM_001371928.1(AHDC1):c.1235G>A (p.Arg412His)
|
rs181285619
|
0.00514
|
NM_005045.4(RELN):c.4937-15A>T
|
rs2711839
|
0.00514
|
NM_006493.4(CLN5):c.*1159G>A
|
rs75441116
|
0.00513
|
NM_000033.4(ABCD1):c.901-10C>T
|
rs2269365
|
0.00512
|
NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=)
|
rs72890664
|
0.00511
|
NM_001365999.1(SZT2):c.3582T>C (p.Ser1194=)
|
rs140788949
|
0.00511
|
NM_004408.4(DNM1):c.46C>A (p.Leu16Met)
|
rs61757224
|
0.00511
|
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=)
|
rs3027882
|
0.00511
|
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=)
|
rs61382101
|
0.00511
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=)
|
rs116006955
|
0.00510
|
NM_015346.4(ZFYVE26):c.7586C>G (p.Pro2529Arg)
|
rs143198225
|
0.00510
|
NM_178138.6(LHX3):c.*825C>A
|
rs3739470
|
0.00510
|
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=)
|
rs2228951
|
0.00509
|
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=)
|
rs78253128
|
0.00509
|
NM_022089.4(ATP13A2):c.*140C>G
|
rs557545457
|
0.00509
|
NM_030930.4(UNC93B1):c.1725C>G (p.Pro575=)
|
rs568350079
|
0.00509
|
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)
|
rs35450031
|
0.00509
|
NM_000030.3(AGXT):c.680+130C>T
|
rs78178548
|
0.00508
|
NM_000368.5(TSC1):c.*2872G>A
|
rs2106345
|
0.00508
|
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=)
|
rs17419023
|
0.00508
|
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=)
|
rs28997580
|
0.00508
|
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=)
|
rs57112868
|
0.00508
|
NM_004519.4(KCNQ3):c.-65C>T
|
rs180674534
|
0.00507
|
NM_005045.4(RELN):c.6084C>T (p.Gly2028=)
|
rs114019779
|
0.00507
|
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=)
|
rs60720455
|
0.00507
|
NM_173728.4(ARHGEF15):c.822C>T (p.Leu274=)
|
rs115119785
|
0.00507
|
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg)
|
rs587784500
|
0.00507
|
NM_000033.4(ABCD1):c.471A>G (p.Gln157=)
|
rs151148684
|
0.00506
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_002047.4(GARS1):c.*67C>G
|
rs142498676
|
0.00506
|
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430
|
0.00506
|
NM_004960.3(FUS):c.*1148A>T
|
rs140326191
|
0.00506
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=)
|
rs139587368
|
0.00506
|
NM_001110792.2(MECP2):c.*489G>C
|
rs111565519
|
0.00505
|
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=)
|
rs55979991
|
0.00505
|
NM_000744.7(CHRNA4):c.76+18G>T
|
rs199908363
|
0.00504
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_001099403.2(PRDM8):c.1447G>T (p.Ala483Ser)
|
rs544862921
|
0.00503
|
NM_004960.3(FUS):c.*2443A>G
|
rs189787862
|
0.00503
|
NM_005359.6(SMAD4):c.*3662C>T
|
rs114852346
|
0.00503
|
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)
|
rs115188375
|
0.00503
|
NM_001134407.3(GRIN2A):c.*5733C>T
|
rs574207711
|
0.00502
|
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)
|
rs61731465
|
0.00502
|
NM_004268.5(MED17):c.690C>T (p.Leu230=)
|
rs116727804
|
0.00502
|
NM_005045.4(RELN):c.1824C>T (p.Cys608=)
|
rs79620906
|
0.00502
|
NM_006267.5(RANBP2):c.7849+4A>G
|
rs2949961
|
0.00502
|
NM_022168.4(IFIH1):c.2807+1G>A
|
rs35732034
|
0.00502
|
NM_080628.3(TLDC2):c.*18-218T>C
|
rs114791229
|
0.00502
|
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=)
|
rs148006211
|
0.00501
|
NM_004738.5(VAPB):c.*995T>G
|
rs76895132
|
0.00501
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_001182.5(ALDH7A1):c.1009-6G>A
|
rs138056453
|
0.00500
|
NM_003332.4(TYROBP):c.*140T>C
|
rs113207157
|
0.00500
|
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=)
|
rs111553899
|
0.00499
|
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=)
|
rs55854596
|
0.00499
|
NM_015166.4(MLC1):c.216G>A (p.Leu72=)
|
rs78365284
|
0.00499
|
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)
|
rs35110478
|
0.00499
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
NM_001127178.3(PIGG):c.1520C>T (p.Ala507Val)
|
rs144879126
|
0.00498
|
NM_001127178.3(PIGG):c.1930G>A (p.Glu644Lys)
|
rs114931121
|
0.00498
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)
|
rs79087668
|
0.00498
|
NM_001099403.2(PRDM8):c.722C>A (p.Pro241Gln)
|
rs200010979
|
0.00497
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_001378452.1(ITPR1):c.6510+7T>C
|
rs115430385
|
0.00496
|
NM_003659.4(AGPS):c.*4098C>T
|
rs115549933
|
0.00496
|
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=)
|
rs41287102
|
0.00495
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
NM_001909.5(CTSD):c.828-19A>C
|
rs200047861
|
0.00494
|
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile)
|
rs77822399
|
0.00494
|
NM_006796.3(AFG3L2):c.-137G>C
|
rs191000529
|
0.00494
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_001909.5(CTSD):c.*19G>A
|
rs201434721
|
0.00493
|
NM_006267.5(RANBP2):c.5307G>A (p.Lys1769=)
|
rs76221103
|
0.00493
|
NM_014053.4(FLVCR1):c.*3241C>T
|
rs113198161
|
0.00493
|
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)
|
rs116205032
|
0.00493
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
NM_001008212.2(OPTN):c.553-10G>A
|
rs11258210
|
0.00492
|
NM_015192.4(PLCB1):c.1167+7T>C
|
rs45466294
|
0.00492
|
NM_001846.4(COL4A2):c.3634+13G>A
|
rs188658233
|
0.00491
|
NM_005629.4(SLC6A8):c.1496-5C>T
|
rs200695210
|
0.00491
|
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met)
|
rs141675330
|
0.00491
|
NM_014846.4(WASHC5):c.867A>C (p.Val289=)
|
rs79464415
|
0.00491
|
NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn)
|
rs2231752
|
0.00491
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
NM_025219.3(DNAJC5):c.*817C>T
|
rs114525694
|
0.00491
|
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser)
|
rs145178162
|
0.00490
|
NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys)
|
rs112262533
|
0.00490
|
NM_006267.5(RANBP2):c.4726A>T (p.Thr1576Ser)
|
rs74821091
|
0.00490
|
NM_013275.6(ANKRD11):c.1245C>T (p.Asp415=)
|
rs79499872
|
0.00490
|
NM_033629.6(TREX1):c.198G>A (p.Lys66=)
|
rs3135943
|
0.00490
|
NM_001134407.3(GRIN2A):c.*6941C>T
|
rs181271617
|
0.00489
|
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile)
|
rs76033442
|
0.00489
|
NM_006267.5(RANBP2):c.728T>C (p.Met243Thr)
|
rs139151870
|
0.00489
|
NM_198904.4(GABRG2):c.717A>G (p.Gln239=)
|
rs78261481
|
0.00489
|
NM_001845.6(COL4A1):c.3949+10C>T
|
rs188122235
|
0.00488
|
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr)
|
rs145886643
|
0.00488
|
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)
|
rs116796602
|
0.00488
|
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=)
|
rs58764017
|
0.00488
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=)
|
rs143089318
|
0.00488
|
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)
|
rs767340839
|
0.00487
|
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=)
|
rs16935497
|
0.00487
|
NM_016169.4(SUFU):c.1291T>C (p.Leu431=)
|
rs141950577
|
0.00487
|
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)
|
rs41289971
|
0.00487
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)
|
rs147891446
|
0.00486
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859
|
0.00486
|
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=)
|
rs61748148
|
0.00486
|
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)
|
rs115330112
|
0.00485
|
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly)
|
rs113722817
|
0.00485
|
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala)
|
rs61734958
|
0.00485
|
NM_000096.4(CP):c.1275T>C (p.Tyr425=)
|
rs34237139
|
0.00484
|
NM_002778.4(PSAP):c.204C>T (p.Asp68=)
|
rs143981174
|
0.00484
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
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_007126.5(VCP):c.*1001C>T
|
rs192556285
|
0.00482
|
NM_013275.6(ANKRD11):c.-137A>G
|
rs75012888
|
0.00482
|
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=)
|
rs8091231
|
0.00482
|
NM_032776.3(JMJD1C):c.699C>T (p.Val233=)
|
rs74138760
|
0.00482
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_000447.3(PSEN2):c.423C>T (p.Asn141=)
|
rs116003409
|
0.00481
|
NM_001371596.2(MFSD8):c.199-8T>C
|
rs112721309
|
0.00481
|
NM_001382391.1(CSPP1):c.-121A>G
|
rs181470846
|
0.00481
|
NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=)
|
rs117082250
|
0.00481
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=)
|
rs77238446
|
0.00481
|
NM_000815.5(GABRD):c.414G>A (p.Thr138=)
|
rs77892827
|
0.00480
|
NM_001110792.2(MECP2):c.*328G>A
|
rs62621673
|
0.00480
|
NM_016032.4(ZDHHC9):c.-204+6G>T
|
rs3747339
|
0.00480
|
NM_018206.6(VPS35):c.1145A>G (p.Lys382Arg)
|
rs116254156
|
0.00480
|
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=)
|
rs61073355
|
0.00480
|
NM_000108.5(DLD):c.*474T>C
|
rs16872391
|
0.00479
|
NM_001379500.1(COL18A1):c.1390G>A (p.Asp464Asn)
|
rs61738822
|
0.00478
|
NM_006030.4(CACNA2D2):c.3393G>A (p.Pro1131=)
|
rs145772306
|
0.00478
|
NM_006267.5(RANBP2):c.3033G>A (p.Pro1011=)
|
rs78215631
|
0.00478
|
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)
|
rs201574732
|
0.00477
|
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu)
|
rs76000738
|
0.00477
|
NM_173728.4(ARHGEF15):c.2366C>A (p.Thr789Asn)
|
rs76729434
|
0.00477
|
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro)
|
rs6772054
|
0.00476
|
NM_000484.4(APP):c.1840A>G (p.Ser614Gly)
|
rs112263157
|
0.00475
|
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)
|
rs375160616
|
0.00475
|
NM_003042.4(SLC6A1):c.138G>A (p.Thr46=)
|
rs183069336
|
0.00475
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_001379500.1(COL18A1):c.1143G>A (p.Ala381=)
|
rs2230689
|
0.00474
|
NM_004519.4(KCNQ3):c.*5704C>T
|
rs145396746
|
0.00474
|
NM_014855.3(AP5Z1):c.369T>C (p.Gly123=)
|
rs182431279
|
0.00474
|
NM_033305.3(VPS13A):c.*1458T>G
|
rs139050715
|
0.00474
|
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=)
|
rs62427038
|
0.00474
|
NM_000100.4(CSTB):c.67-3T>C
|
rs6383
|
0.00473
|
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_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)
|
rs61758995
|
0.00472
|
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys)
|
rs146403122
|
0.00472
|
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)
|
rs146292575
|
0.00472
|
NM_000287.4(PEX6):c.1479+11C>T
|
rs114137311
|
0.00471
|
NM_015346.4(ZFYVE26):c.6588+7C>T
|
rs186040735
|
0.00471
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
NM_000096.4(CP):c.1349-13T>C
|
rs17847017
|
0.00469
|
NM_007098.4(CLTCL1):c.3493C>T (p.Arg1165Cys)
|
rs190351859
|
0.00469
|
NM_182919.4(TICAM1):c.223C>T (p.Arg75Cys)
|
rs11466719
|
0.00469
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
NM_004408.4(DNM1):c.357T>C (p.Pro119=)
|
rs77325628
|
0.00468
|
NM_005045.4(RELN):c.3712A>C (p.Asn1238His)
|
rs114003896
|
0.00468
|
NM_005076.5(CNTN2):c.947C>T (p.Thr316Ile)
|
rs139732336
|
0.00468
|
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)
|
rs149633292
|
0.00468
|
NM_006721.4(ADK):c.987T>C (p.Ser329=)
|
rs116653664
|
0.00468
|
NM_000044.6(AR):c.1029T>C (p.Ser343=)
|
rs113983339
|
0.00467
|
NM_000742.4(CHRNA2):c.*1006G>A
|
rs145560154
|
0.00467
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
NM_020631.5(PLEKHG5):c.*1052G>A
|
rs148036862
|
0.00467
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)
|
rs757355779
|
0.00466
|
NM_080628.3(TLDC2):c.*28T>C
|
rs45595032
|
0.00466
|
NM_000096.4(CP):c.1348+9T>C
|
rs35272481
|
0.00465
|
NM_001365088.1(SLC12A6):c.2935-7A>G
|
rs184053916
|
0.00465
|
NM_001846.4(COL4A2):c.1979-6C>T
|
rs190632602
|
0.00465
|
NM_033343.4(LHX4):c.63T>C (p.Gly21=)
|
rs75857235
|
0.00465
|
NM_000170.3(GLDC):c.1707+8G>A
|
rs144666843
|
0.00464
|
NM_005045.4(RELN):c.5775A>G (p.Arg1925=)
|
rs2711866
|
0.00464
|
NM_017791.3(FLVCR2):c.*254T>C
|
rs115212564
|
0.00463
|
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser)
|
rs146651455
|
0.00463
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_001111125.3(IQSEC2):c.3015+14G>C
|
rs189183148
|
0.00462
|
NM_001256864.2(DNAJC6):c.1320A>T (p.Thr440=)
|
rs142136708
|
0.00462
|
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)
|
rs114882905
|
0.00462
|
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)
|
rs55862001
|
0.00462
|
NM_014845.6(FIG4):c.66+10C>T
|
rs200063827
|
0.00462
|
NM_025136.4(OPA3):c.*4954C>T
|
rs146646433
|
0.00462
|
NM_203446.3(SYNJ1):c.1119-8G>T
|
rs138882423
|
0.00462
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
NM_001099403.2(PRDM8):c.1137C>A (p.Gly379=)
|
rs144810863
|
0.00461
|
NM_001365999.1(SZT2):c.1262-14C>T
|
rs150704592
|
0.00461
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_005027.4(PIK3R2):c.1560-17C>T
|
rs183117011
|
0.00461
|
NM_173728.4(ARHGEF15):c.2034-19C>T
|
rs117474192
|
0.00461
|
NM_001365536.1(SCN9A):c.2517+6C>T
|
rs145316463
|
0.00460
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
NM_021830.5(TWNK):c.*455C>T
|
rs148810959
|
0.00460
|
NM_001846.4(COL4A2):c.3642C>T (p.Asp1214=)
|
rs115373326
|
0.00459
|
NM_025136.4(OPA3):c.*6208C>T
|
rs139798464
|
0.00458
|
NM_004519.4(KCNQ3):c.*4279C>T
|
rs180880378
|
0.00457
|
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=)
|
rs143426579
|
0.00457
|
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=)
|
rs140105878
|
0.00457
|
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)
|
rs138744051
|
0.00456
|
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)
|
rs116401889
|
0.00456
|
NM_025137.4(SPG11):c.4434+11T>C
|
rs146501021
|
0.00456
|
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)
|
rs113493395
|
0.00455
|
NM_004385.5(VCAN):c.*1614G>T
|
rs145490018
|
0.00455
|
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=)
|
rs61750379
|
0.00455
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
NM_021830.5(TWNK):c.-650A>G
|
rs187213541
|
0.00454
|
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=)
|
rs115107511
|
0.00453
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
NM_001195248.2(APTX):c.*141G>A
|
rs148292963
|
0.00452
|
NM_001351169.2(NT5C2):c.921+18T>G
|
rs17115449
|
0.00452
|
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)
|
rs55654276
|
0.00452
|
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)
|
rs7052858
|
0.00452
|
NM_015046.7(SETX):c.*475A>C
|
rs60760878
|
0.00452
|
NM_198859.4(PRICKLE2):c.*1044C>T
|
rs111362297
|
0.00452
|
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)
|
rs61750221
|
0.00452
|
NM_000311.5(PRNP):c.424G>A (p.Gly142Ser)
|
rs150351644
|
0.00451
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu)
|
rs116012798
|
0.00451
|
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=)
|
rs141478957
|
0.00451
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
NM_004565.3(PEX14):c.795A>G (p.Ser265=)
|
rs41274484
|
0.00451
|
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=)
|
rs12140044
|
0.00451
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_001003800.2(BICD2):c.2258+15G>C
|
rs140501870
|
0.00450
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser)
|
rs143873873
|
0.00450
|
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)
|
rs3027888
|
0.00450
|
NM_005619.5(RTN2):c.351A>G (p.Gln117=)
|
rs144028452
|
0.00450
|
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)
|
rs61757684
|
0.00449
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437
|
0.00449
|
NM_002693.3(POLG):c.3644-14G>C
|
rs3087375
|
0.00449
|
NM_006612.6(KIF1C):c.1165+4G>A
|
rs192489748
|
0.00449
|
NM_025136.4(OPA3):c.*398G>T
|
rs183851663
|
0.00449
|
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn)
|
rs150218102
|
0.00449
|
NM_025219.3(DNAJC5):c.*1364C>T
|
rs61735744
|
0.00449
|
NM_001199107.2(TBC1D24):c.*4120T>C
|
rs116622328
|
0.00448
|
NM_001371986.1(UNC80):c.92+7G>A
|
rs200211384
|
0.00448
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082
|
0.00448
|
NM_001846.4(COL4A2):c.4882-7T>C
|
rs116548600
|
0.00448
|
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr)
|
rs114601558
|
0.00448
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His)
|
rs114142266
|
0.00447
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00447
|
NM_001846.4(COL4A2):c.4882-15C>T
|
rs114427900
|
0.00447
|
NM_003793.4(CTSF):c.1158C>T (p.Asn386=)
|
rs116329758
|
0.00447
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
NM_025233.7(COASY):c.1587C>T (p.His529=)
|
rs151074271
|
0.00447
|
NM_173500.4(TTBK2):c.980+8C>A
|
rs143836514
|
0.00447
|
NM_182961.4(SYNE1):c.-391-9T>C
|
rs138926036
|
0.00447
|
NM_000021.4(PSEN1):c.*1791A>T
|
rs177412
|
0.00446
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)
|
rs55720916
|
0.00446
|
NM_001376.5(DYNC1H1):c.-53G>A
|
rs2273436
|
0.00446
|
NM_001376.5(DYNC1H1):c.-5A>G
|
rs17511858
|
0.00446
|
NM_001482.3(GATM):c.*847G>A
|
rs1145087
|
0.00446
|
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile)
|
rs34987632
|
0.00446
|
NM_000044.6(AR):c.324G>C (p.Leu108=)
|
rs147677446
|
0.00445
|
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)
|
rs145182838
|
0.00445
|
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg)
|
rs75639549
|
0.00445
|
NM_017755.6(NSUN2):c.510G>A (p.Leu170=)
|
rs144888290
|
0.00445
|
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)
|
rs35647984
|
0.00445
|
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=)
|
rs116197727
|
0.00444
|
NM_007254.4(PNKP):c.*21A>C
|
rs201872477
|
0.00444
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys)
|
rs77314072
|
0.00444
|
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr)
|
rs79915936
|
0.00444
|
NM_001330723.2(SNX27):c.984T>C (p.Phe328=)
|
rs150091333
|
0.00443
|
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)
|
rs148560273
|
0.00443
|
NM_020631.6(PLEKHG5):c.440-6A>G
|
rs202049535
|
0.00443
|
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)
|
rs187783545
|
0.00443
|
NM_004204.5(PIGQ):c.1617C>T (p.Arg539=)
|
rs141040910
|
0.00442
|
NM_012281.3(KCND2):c.1116-16T>A
|
rs192275893
|
0.00442
|
NM_020708.5(SLC12A5):c.2403C>T (p.Gly801=)
|
rs35981087
|
0.00442
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
NM_001003787.4(STRADA):c.36+15A>G
|
rs4968596
|
0.00441
|
NM_013275.6(ANKRD11):c.744+18C>G
|
rs147328392
|
0.00441
|
NM_015161.3(ARL6IP1):c.204C>T (p.Ser68=)
|
rs138748723
|
0.00441
|
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser)
|
rs61755328
|
0.00441
|
NM_016219.5(MAN1B1):c.1566+14C>T
|
rs201606936
|
0.00440
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_001199753.2(CPT1C):c.1731+7T>A
|
rs201870376
|
0.00439
|
NM_002361.4(MAG):c.1617-17C>T
|
rs148059390
|
0.00439
|
NM_003719.5(PDE8B):c.63C>T (p.Asp21=)
|
rs201411330
|
0.00439
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)
|
rs112906840
|
0.00438
|
NM_152743.4(BRAT1):c.675C>T (p.Phe225=)
|
rs139443843
|
0.00438
|
NM_198994.3(TGM6):c.12C>G (p.Ile4Met)
|
rs139796716
|
0.00438
|
NM_000096.4(CP):c.2525A>G (p.Glu842Gly)
|
rs149858116
|
0.00437
|
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)
|
rs61754130
|
0.00437
|
NM_002047.2(GARS1):c.-177T>C
|
rs78980639
|
0.00437
|
NM_000368.5(TSC1):c.*3952A>G
|
rs114454155
|
0.00436
|
NM_000447.3(PSEN2):c.861C>T (p.Pro287=)
|
rs75733498
|
0.00436
|
NM_001044.5(SLC6A3):c.1413C>G (p.Val471=)
|
rs8179035
|
0.00436
|
NM_001130438.3(SPTAN1):c.652-6G>A
|
rs115815276
|
0.00436
|
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln)
|
rs61757110
|
0.00436
|
NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser)
|
rs150136669
|
0.00436
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
NM_002693.3(POLG):c.-80C>T
|
rs3087378
|
0.00435
|
NM_005629.4(SLC6A8):c.1768-3C>T
|
rs150207268
|
0.00435
|
NM_006765.4(TUSC3):c.862+19G>A
|
rs144272482
|
0.00435
|
NM_000153.4(GALC):c.-66G>T
|
rs146439771
|
0.00434
|
NM_000284.4(PDHA1):c.*1869G>C
|
rs15943
|
0.00434
|
NM_001134407.3(GRIN2A):c.*5512T>C
|
rs149933070
|
0.00434
|
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=)
|
rs139505007
|
0.00434
|
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=)
|
rs59696308
|
0.00434
|
NM_025000.4(DCAF17):c.*1521A>G
|
rs77176791
|
0.00434
|
NM_004519.4(KCNQ3):c.*6174A>G
|
rs116373101
|
0.00433
|
NM_004035.7(ACOX1):c.*2977C>T
|
rs73997670
|
0.00432
|
NM_005506.4(SCARB2):c.1239+14C>T
|
rs143699909
|
0.00432
|
NM_018026.4(PACS1):c.858A>C (p.Ser286=)
|
rs114730283
|
0.00432
|
NM_000170.3(GLDC):c.1261+19T>C
|
rs192870343
|
0.00431
|
NM_001205293.3(CACNA1E):c.1956+19G>A
|
rs111734002
|
0.00431
|
NM_001378120.1(MBD5):c.297A>G (p.Leu99=)
|
rs77213206
|
0.00431
|
NM_014946.4(SPAST):c.*2589T>G
|
rs149425698
|
0.00431
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_032776.3(JMJD1C):c.5940G>A (p.Pro1980=)
|
rs34825545
|
0.00431
|
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn)
|
rs140508714
|
0.00431
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_016169.4(SUFU):c.210T>C (p.Tyr70=)
|
rs35166585
|
0.00430
|
NM_018319.4(TDP1):c.*598G>A
|
rs34083314
|
0.00430
|
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe)
|
rs141796889
|
0.00430
|
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=)
|
rs114745823
|
0.00429
|
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys)
|
rs146431326
|
0.00429
|
NM_002857.4(PEX19):c.771+3A>G
|
rs141133579
|
0.00429
|
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)
|
rs138259457
|
0.00428
|
NM_004519.4(KCNQ3):c.*3731G>T
|
rs117524261
|
0.00428
|
NM_007055.4(POLR3A):c.*994C>T
|
rs148339082
|
0.00428
|
NM_000811.3(GABRA6):c.639A>G (p.Gln213=)
|
rs34826485
|
0.00427
|
NM_025136.4(OPA3):c.*3117C>T
|
rs569595277
|
0.00427
|
NM_130837.3(OPA1):c.*220A>G
|
rs76421015
|
0.00427
|
NM_001127178.3(PIGG):c.759+16G>A
|
rs148792489
|
0.00426
|
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile)
|
rs199719452
|
0.00426
|
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His)
|
rs149274963
|
0.00426
|
NM_004813.4(PEX16):c.943C>T (p.Leu315=)
|
rs150774189
|
0.00426
|
NM_005154.5(USP8):c.1448G>A (p.Arg483Gln)
|
rs115970610
|
0.00426
|
NM_005359.6(SMAD4):c.*1820T>G
|
rs141309481
|
0.00426
|
NM_018834.6(MATR3):c.*275C>T
|
rs187985845
|
0.00426
|
NM_000744.7(CHRNA4):c.384-11T>G
|
rs201015514
|
0.00425
|
NM_001371279.1(REEP1):c.486C>T (p.Asp162=)
|
rs139806812
|
0.00425
|
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=)
|
rs116171826
|
0.00425
|
NM_004722.4(AP4M1):c.1344C>T (p.Ala448=)
|
rs57403878
|
0.00425
|
NM_016169.4(SUFU):c.12G>A (p.Leu4=)
|
rs189234140
|
0.00425
|
NM_021098.3(CACNA1H):c.1479T>C (p.Ser493=)
|
rs60415676
|
0.00425
|
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly)
|
rs148656796
|
0.00425
|
NM_001077350.3(NPRL3):c.1544+18C>T
|
rs147148279
|
0.00424
|
NM_012338.4(TSPAN12):c.*1270T>G
|
rs147549883
|
0.00424
|
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr)
|
rs75362060
|
0.00424
|
NM_022168.4(IFIH1):c.258C>G (p.Thr86=)
|
rs143870870
|
0.00424
|
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp)
|
rs34164089
|
0.00424
|
NM_001034116.2(EIF2B4):c.27C>T (p.Arg9=)
|
rs113310794
|
0.00423
|
NM_018319.4(TDP1):c.1317+11G>A
|
rs36009827
|
0.00423
|
NM_031448.6(C19orf12):c.*84C>T
|
rs117867574
|
0.00423
|
NM_000489.6(ATRX):c.485-17C>G
|
rs193223073
|
0.00422
|
NM_015166.4(MLC1):c.279G>A (p.Ser93=)
|
rs11568172
|
0.00422
|
NM_022089.4(ATP13A2):c.*120A>T
|
rs41273151
|
0.00422
|
NM_153252.5(BRWD3):c.33G>A (p.Glu11=)
|
rs139071237
|
0.00422
|
NM_000170.3(GLDC):c.2457+8C>T
|
rs147308839
|
0.00421
|
NM_000742.4(CHRNA2):c.*108C>T
|
rs147882344
|
0.00421
|
NM_001134407.3(GRIN2A):c.*6475T>A
|
rs78377517
|
0.00421
|
NM_001166114.2(PNPLA6):c.414-18C>T
|
rs149630061
|
0.00421
|
NM_032581.4(HYCC1):c.1492A>G (p.Thr498Ala)
|
rs143894913
|
0.00421
|
NM_001099403.2(PRDM8):c.1050C>T (p.Cys350=)
|
rs374280707
|
0.00420
|
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=)
|
rs34658653
|
0.00420
|
NM_031448.6(C19orf12):c.*1170C>A
|
rs75930446
|
0.00420
|
NM_153252.5(BRWD3):c.*1992G>A
|
rs193085939
|
0.00420
|
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser)
|
rs200831077
|
0.00420
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
NM_001077350.3(NPRL3):c.534C>T (p.Ser178=)
|
rs140092767
|
0.00419
|
NM_001371279.1(REEP1):c.381C>T (p.Asn127=)
|
rs36008495
|
0.00419
|
NM_020822.3(KCNT1):c.30G>A (p.Pro10=)
|
rs139034501
|
0.00419
|
NM_021072.4(HCN1):c.1797A>G (p.Ser599=)
|
rs148932124
|
0.00419
|
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu)
|
rs61758802
|
0.00418
|
NM_014263.4(YME1L1):c.541-16T>C
|
rs2275751
|
0.00418
|
NM_000925.4(PDHB):c.303+16T>C
|
rs75014325
|
0.00417
|
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)
|
rs34124953
|
0.00417
|
NM_006070.6(TFG):c.594T>G (p.Ala198=)
|
rs12562
|
0.00417
|
NM_006267.5(RANBP2):c.2955G>A (p.Pro985=)
|
rs61748147
|
0.00417
|
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=)
|
rs72887798
|
0.00417
|
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)
|
rs62640003
|
0.00417
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp)
|
rs114702742
|
0.00416
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00415
|
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)
|
rs61735357
|
0.00414
|
NM_000702.4(ATP1A2):c.-48C>G
|
rs41265761
|
0.00414
|
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=)
|
rs139619000
|
0.00414
|
NM_018026.4(PACS1):c.1969A>C (p.Met657Leu)
|
rs115947278
|
0.00414
|
NM_021098.3(CACNA1H):c.4038+12C>T
|
rs370831984
|
0.00414
|
NM_031448.6(C19orf12):c.69G>A (p.Ala23=)
|
rs201118405
|
0.00414
|
NM_000447.3(PSEN2):c.132T>A (p.Thr44=)
|
rs143227762
|
0.00413
|
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala)
|
rs35973343
|
0.00413
|
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu)
|
rs115591710
|
0.00413
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)
|
rs17881486
|
0.00412
|
NM_005045.4(RELN):c.4986C>G (p.Thr1662=)
|
rs78221963
|
0.00412
|
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)
|
rs12344006
|
0.00412
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile)
|
rs146001055
|
0.00412
|
NM_000742.4(CHRNA2):c.*1446A>G
|
rs28697263
|
0.00411
|
NM_006612.6(KIF1C):c.1666+12G>C
|
rs190329136
|
0.00411
|
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092
|
0.00411
|
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=)
|
rs12000048
|
0.00411
|
NM_018834.6(MATR3):c.*496C>T
|
rs140707719
|
0.00411
|
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)
|
rs139904931
|
0.00411
|
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu)
|
rs17560
|
0.00410
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu)
|
rs62176112
|
0.00410
|
NM_015214.3(DDHD2):c.912T>A (p.Ile304=)
|
rs139393309
|
0.00410
|
NM_022464.5(SIL1):c.900C>T (p.Phe300=)
|
rs35080367
|
0.00410
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
NM_198994.3(TGM6):c.1235G>A (p.Arg412His)
|
rs142679146
|
0.00410
|
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=)
|
rs146829604
|
0.00409
|
NM_014249.4(NR2E3):c.245+8C>T
|
rs9920371
|
0.00409
|
NM_022089.4(ATP13A2):c.*231G>A
|
rs76298930
|
0.00409
|
NM_144599.5(NIPA1):c.*3393A>T
|
rs147611065
|
0.00409
|
NM_152415.3(VPS37A):c.24C>T (p.Thr8=)
|
rs146098391
|
0.00409
|
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=)
|
rs34030828
|
0.00408
|
NM_003072.5(SMARCA4):c.3547-11T>C
|
rs190104006
|
0.00408
|
NM_005591.4(MRE11):c.*2662A>G
|
rs13447759
|
0.00408
|
NM_014845.6(FIG4):c.*14C>T
|
rs114136062
|
0.00408
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_021098.3(CACNA1H):c.5173+10C>T
|
rs72554026
|
0.00407
|
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)
|
rs112775648
|
0.00406
|
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
|
rs114734921
|
0.00406
|
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=)
|
rs34245589
|
0.00406
|
NM_004385.5(VCAN):c.*1652G>C
|
rs148439157
|
0.00406
|
NM_007254.4(PNKP):c.1032G>A (p.Arg344=)
|
rs185452809
|
0.00406
|
NM_080628.3(TLDC2):c.*18-938G>C
|
rs116489517
|
0.00406
|
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=)
|
rs61756694
|
0.00406
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_007055.4(POLR3A):c.*673A>G
|
rs150842225
|
0.00405
|
NM_004035.7(ACOX1):c.1302C>T (p.Phe434=)
|
rs144742319
|
0.00404
|
NM_004035.7(ACOX1):c.954A>G (p.Glu318=)
|
rs16968343
|
0.00404
|
NM_005154.5(USP8):c.1162A>G (p.Lys388Glu)
|
rs150568948
|
0.00404
|
NM_007055.4(POLR3A):c.*1718G>C
|
rs144088118
|
0.00404
|
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys)
|
rs114768494
|
0.00403
|
NM_001042432.2(CLN3):c.771G>A (p.Glu257=)
|
rs73533466
|
0.00402
|
NM_001099403.2(PRDM8):c.1390C>T (p.Pro464Ser)
|
rs201251555
|
0.00402
|
NM_001257180.2(SLC20A2):c.*263A>C
|
rs145543019
|
0.00402
|
NM_080628.3(TLDC2):c.*43G>A
|
rs115645414
|
0.00402
|
NM_001371928.1(AHDC1):c.4782C>T (p.Pro1594=)
|
rs61742782
|
0.00401
|
NM_002361.4(MAG):c.1716+18G>C
|
rs10419210
|
0.00401
|
NM_144599.5(NIPA1):c.*1012A>G
|
rs186626641
|
0.00401
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_006267.5(RANBP2):c.1274-14T>A
|
rs201447069
|
0.00399
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
0.00399
|
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu)
|
rs201051863
|
0.00399
|
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=)
|
rs138997061
|
0.00398
|
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)
|
rs62622817
|
0.00398
|
NM_006612.6(KIF1C):c.1815G>A (p.Leu605=)
|
rs78356534
|
0.00398
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_000481.4(AMT):c.898A>G (p.Met300Val)
|
rs144971200
|
0.00397
|
NM_001330260.2(SCN8A):c.928+9C>T
|
rs148027656
|
0.00397
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_000368.5(TSC1):c.*2461G>A
|
rs73552806
|
0.00396
|
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)
|
rs28364996
|
0.00396
|
NM_001111.5(ADAR):c.298= (p.Arg100=)
|
rs1466731
|
0.00396
|
NM_012193.4(FZD4):c.*947G>A
|
rs141895567
|
0.00396
|
NM_016630.7(SPG21):c.318T>C (p.Phe106=)
|
rs147236778
|
0.00396
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_152722.5(HEPACAM):c.*1614A>T
|
rs79225627
|
0.00396
|
NM_001079872.2(CUL4B):c.777-12C>T
|
rs192860595
|
0.00395
|
NM_003924.4(PHOX2B):c.*278T>A
|
rs73810341
|
0.00395
|
NM_025219.3(DNAJC5):c.*909G>T
|
rs114038171
|
0.00395
|
NM_152617.4(RNF168):c.1237G>A (p.Glu413Lys)
|
rs6790173
|
0.00395
|
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)
|
rs140861713
|
0.00395
|
NM_182961.4(SYNE1):c.20199+16C>T
|
rs114739771
|
0.00395
|
NM_000030.3(AGXT):c.976G>A (p.Val326Ile)
|
rs115057148
|
0.00394
|
NM_000049.4(ASPA):c.245T>C (p.Met82Thr)
|
rs80099330
|
0.00394
|
NM_000081.4(LYST):c.1686G>C (p.Gln562His)
|
rs77091385
|
0.00394
|
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=)
|
rs183032531
|
0.00394
|
NM_001205293.3(CACNA1E):c.4329+14G>A
|
rs138957815
|
0.00394
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
NM_014053.4(FLVCR1):c.*1317A>G
|
rs145011972
|
0.00394
|
NM_000081.4(LYST):c.4863-19T>C
|
rs150288597
|
0.00393
|
NM_001003787.4(STRADA):c.508C>G (p.Leu170Val)
|
rs61734984
|
0.00393
|
NM_004519.4(KCNQ3):c.*3544A>G
|
rs61190986
|
0.00393
|
NM_001244008.2(KIF1A):c.*2543C>T
|
rs141926687
|
0.00392
|
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met)
|
rs150665851
|
0.00392
|
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)
|
rs116012780
|
0.00392
|
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val)
|
rs143520192
|
0.00392
|
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)
|
rs114057640
|
0.00392
|
NM_018834.6(MATR3):c.*747G>C
|
rs181792838
|
0.00392
|
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
|
rs41289628
|
0.00391
|
NM_004519.4(KCNQ3):c.*3701G>A
|
rs576940686
|
0.00391
|
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
|
rs45608240
|
0.00391
|
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=)
|
rs143580749
|
0.00390
|
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe)
|
rs200066623
|
0.00390
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001127222.2(CACNA1A):c.5067+20G>A
|
rs184517632
|
0.00390
|
NM_002693.3(POLG):c.2735-15C>T
|
rs41544115
|
0.00390
|
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=)
|
rs577235589
|
0.00390
|
NM_205836.3(FBXO38):c.593-13A>T
|
rs61555444
|
0.00390
|
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)
|
rs145444300
|
0.00389
|
NM_012073.5(CCT5):c.*320T>C
|
rs186512015
|
0.00389
|
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val)
|
rs140812293
|
0.00388
|
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)
|
rs72700618
|
0.00388
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00388
|
NM_001846.4(COL4A2):c.4776G>T (p.Val1592=)
|
rs59395531
|
0.00387
|
NM_003072.5(SMARCA4):c.1119-12C>T
|
rs113870824
|
0.00387
|
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=)
|
rs114088252
|
0.00386
|
NM_001242896.3(DEPDC5):c.2856T>C (p.Cys952=)
|
rs115299174
|
0.00386
|
NM_001288705.3(CSF1R):c.*405G>C
|
rs1058920
|
0.00386
|
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)
|
rs201531206
|
0.00386
|
NM_001378969.1(KCND3):c.957C>G (p.Ser319=)
|
rs61733426
|
0.00386
|
NM_003119.4(SPG7):c.1653C>T (p.Arg551=)
|
rs56031686
|
0.00386
|
NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln)
|
rs186993311
|
0.00386
|
NM_021098.3(CACNA1H):c.4224-6C>T
|
rs72552039
|
0.00386
|
NM_178013.4(PRIMA1):c.222C>T (p.Ser74=)
|
rs145840548
|
0.00386
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
NM_007055.4(POLR3A):c.2247+8C>T
|
rs147475356
|
0.00385
|
NM_018100.4(EFHC1):c.210A>G (p.Pro70=)
|
rs145367062
|
0.00385
|
NM_020988.3(GNAO1):c.921A>G (p.Gln307=)
|
rs148650019
|
0.00385
|
NM_001374828.1(ARID1B):c.3235+6C>T
|
rs148976215
|
0.00384
|
NM_003072.5(SMARCA4):c.2001+8T>G
|
rs112549813
|
0.00384
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
NM_001205293.3(CACNA1E):c.3989+16G>A
|
rs77439656
|
0.00383
|
NM_001134407.3(GRIN2A):c.*5740A>C
|
rs144545983
|
0.00382
|
NM_152722.5(HEPACAM):c.288A>C (p.Arg96=)
|
rs36089266
|
0.00382
|
NM_001127649.3(PEX26):c.815-13C>T
|
rs139370593
|
0.00381
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00381
|
NM_003072.5(SMARCA4):c.222+18C>T
|
rs180832203
|
0.00381
|
NM_004181.5(UCHL1):c.*294G>A
|
rs116700032
|
0.00381
|
NM_004519.4(KCNQ3):c.*5578A>G
|
rs148780224
|
0.00381
|
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=)
|
rs141424852
|
0.00381
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
NM_006087.4(TUBB4A):c.*429C>T
|
rs567346964
|
0.00380
|
NM_153033.5(KCTD7):c.*216A>G
|
rs77341088
|
0.00380
|
NM_000284.4(PDHA1):c.831+15C>T
|
rs190157093
|
0.00379
|
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=)
|
rs116778543
|
0.00379
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_003560.4(PLA2G6):c.187A>G (p.Arg63Gly)
|
rs11570606
|
0.00379
|
NM_014249.4(NR2E3):c.1005C>A (p.Gly335=)
|
rs142621527
|
0.00379
|
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met)
|
rs116600265
|
0.00379
|
NM_000817.2(GAD1):c.-244G>A
|
rs576236119
|
0.00378
|
NM_014324.6(AMACR):c.837G>A (p.Thr279=)
|
rs35655488
|
0.00378
|
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=)
|
rs60275734
|
0.00378
|
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)
|
rs61750051
|
0.00377
|
NM_001134407.3(GRIN2A):c.*2210A>T
|
rs148482120
|
0.00377
|
NM_004519.4(KCNQ3):c.*7689A>G
|
rs142621198
|
0.00377
|
NM_012073.5(CCT5):c.*1400A>G
|
rs140380065
|
0.00377
|
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)
|
rs145906515
|
0.00377
|
NM_015973.5(GAL):c.361G>A (p.Glu121Lys)
|
rs139127322
|
0.00377
|
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=)
|
rs34961653
|
0.00377
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=)
|
rs147268650
|
0.00376
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
NM_018026.4(PACS1):c.534+13T>C
|
rs138009664
|
0.00375
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_005076.5(CNTN2):c.2583G>A (p.Ala861=)
|
rs115143667
|
0.00374
|
NM_006612.6(KIF1C):c.2646T>C (p.Asn882=)
|
rs77312856
|
0.00374
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
NM_001371279.1(REEP1):c.*1330A>T
|
rs141138007
|
0.00373
|
NM_006087.4(TUBB4A):c.*493C>G
|
rs111966371
|
0.00373
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00372
|
NM_003072.5(SMARCA4):c.1140C>T (p.His380=)
|
rs114594206
|
0.00372
|
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)
|
rs150190277
|
0.00372
|
NM_015192.4(PLCB1):c.1679-17G>A
|
rs139542242
|
0.00372
|
NM_152564.5(VPS13B):c.7050+11A>G
|
rs114546856
|
0.00372
|
NM_001166114.2(PNPLA6):c.1005+14G>A
|
rs190321280
|
0.00371
|
NM_001271.4(CHD2):c.2577+7T>C
|
rs146944583
|
0.00371
|
NM_007055.4(POLR3A):c.*345A>C
|
rs74538796
|
0.00371
|
NM_014844.5(TECPR2):c.3075+18C>T
|
rs140418145
|
0.00371
|
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=)
|
rs142928152
|
0.00371
|
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val)
|
rs11543347
|
0.00370
|
NM_001330574.2(ZNF711):c.-297A>T
|
rs772828408
|
0.00370
|
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu)
|
rs61729226
|
0.00370
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)
|
rs139687202
|
0.00369
|
NM_000153.4(GALC):c.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
NM_003659.4(AGPS):c.*2091T>C
|
rs16865338
|
0.00368
|
NM_005154.5(USP8):c.1516A>C (p.Lys506Gln)
|
rs113169913
|
0.00368
|
NM_014844.5(TECPR2):c.3790-18G>C
|
rs138918519
|
0.00368
|
NM_001040142.2(SCN2A):c.3675+19A>G
|
rs142439830
|
0.00367
|
NM_015346.4(ZFYVE26):c.5653+16G>A
|
rs140437859
|
0.00367
|
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
|
rs35744605
|
0.00367
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_006516.4(SLC2A1):c.*1587A>G
|
rs140560514
|
0.00366
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
NM_001330723.2(SNX27):c.801+18T>A
|
rs115780664
|
0.00365
|
NM_013275.6(ANKRD11):c.3483C>T (p.Ser1161=)
|
rs150642594
|
0.00365
|
NM_001015877.2(PHF6):c.730-11T>G
|
rs192977933
|
0.00364
|
NM_002047.2(GARS1):c.-280G>A
|
rs73294431
|
0.00364
|
NM_002361.4(MAG):c.1799C>T (p.Ser600Leu)
|
rs116643737
|
0.00364
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_004204.5(PIGQ):c.810C>T (p.Ala270=)
|
rs35227916
|
0.00364
|
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)
|
rs140921822
|
0.00364
|
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg)
|
rs59529743
|
0.00364
|
NM_000287.4(PEX6):c.1071A>G (p.Leu357=)
|
rs116318004
|
0.00363
|
NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=)
|
rs116540923
|
0.00363
|
NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe)
|
rs116185336
|
0.00363
|
NM_025136.4(OPA3):c.*2101A>T
|
rs139606810
|
0.00363
|
NM_025136.4(OPA3):c.*6101A>G
|
rs187296782
|
0.00363
|
NM_032409.3(PINK1):c.948C>T (p.Leu316=)
|
rs142183624
|
0.00363
|
NM_005629.4(SLC6A8):c.1141+18G>A
|
rs187400676
|
0.00362
|
NM_021072.4(HCN1):c.140G>T (p.Gly47Val)
|
rs544994462
|
0.00362
|
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)
|
rs76675748
|
0.00361
|
NM_002156.5(HSPD1):c.1216-9C>T
|
rs189395138
|
0.00361
|
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
|
rs73810366
|
0.00361
|
NM_004960.3(FUS):c.*214C>T
|
rs140875749
|
0.00361
|
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)
|
rs2229860
|
0.00361
|
NM_001015877.2(PHF6):c.374+8T>C
|
rs142596708
|
0.00360
|
NM_001110792.2(MECP2):c.*3477G>A
|
rs56036177
|
0.00360
|
NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr)
|
rs34342624
|
0.00359
|
NM_001382391.1(CSPP1):c.100-13A>G
|
rs78076942
|
0.00359
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)
|
rs147027229
|
0.00358
|
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)
|
rs35815657
|
0.00358
|
NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys)
|
rs141644282
|
0.00358
|
NM_015214.3(DDHD2):c.227G>A (p.Gly76Asp)
|
rs150361106
|
0.00358
|
NM_000033.4(ABCD1):c.696G>T (p.Ala232=)
|
rs147595334
|
0.00357
|
NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val)
|
rs149588872
|
0.00357
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_004562.3(PRKN):c.714C>T (p.Cys238=)
|
rs114974496
|
0.00357
|
NM_006612.6(KIF1C):c.183+17G>C
|
rs113047933
|
0.00357
|
NM_014846.4(WASHC5):c.2100G>A (p.Val700=)
|
rs148936723
|
0.00357
|
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn)
|
rs144655617
|
0.00356
|
NM_000742.4(CHRNA2):c.*285G>C
|
rs111565880
|
0.00356
|
NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln)
|
rs184812559
|
0.00356
|
NM_002087.4(GRN):c.545C>T (p.Thr182Met)
|
rs63750479
|
0.00356
|
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=)
|
rs145177450
|
0.00356
|
NM_005573.4(LMNB1):c.*691A>G
|
rs77429268
|
0.00356
|
NM_032776.3(JMJD1C):c.2628T>C (p.Leu876=)
|
rs139078977
|
0.00356
|
NM_001079872.2(CUL4B):c.2161-15T>G
|
rs183114462
|
0.00355
|
NM_001323289.2(CDKL5):c.145+17A>G
|
rs199814742
|
0.00355
|
NM_004483.5(GCSH):c.148+15C>T
|
rs544589105
|
0.00355
|
NM_015335.5(MED13L):c.2239-16T>C
|
rs147314859
|
0.00355
|
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys)
|
rs114647348
|
0.00354
|
NM_012073.5(CCT5):c.*670T>A
|
rs114402073
|
0.00354
|
NM_015192.4(PLCB1):c.582T>C (p.Leu194=)
|
rs150770296
|
0.00354
|
NM_025137.4(SPG11):c.64A>G (p.Met22Val)
|
rs34255962
|
0.00354
|
NM_007254.4(PNKP):c.783G>A (p.Pro261=)
|
rs145307985
|
0.00353
|
NM_012073.5(CCT5):c.1059G>A (p.Leu353=)
|
rs114634318
|
0.00353
|
NM_013275.6(ANKRD11):c.893-19C>T
|
rs117052164
|
0.00353
|
NM_032776.3(JMJD1C):c.7401+13T>C
|
rs142145484
|
0.00353
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)
|
rs116114362
|
0.00352
|
NM_005465.7(AKT3):c.1416C>G (p.Ser472=)
|
rs148332912
|
0.00352
|
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=)
|
rs141063383
|
0.00352
|
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)
|
rs150677536
|
0.00351
|
NM_004366.6(CLCN2):c.2415+9A>G
|
rs192449317
|
0.00351
|
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)
|
rs149028586
|
0.00351
|
NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala)
|
rs35413645
|
0.00350
|
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)
|
rs148975763
|
0.00350
|
NM_000702.4(ATP1A2):c.2943-15C>T
|
rs111510835
|
0.00350
|
NM_002617.4(PEX10):c.621C>G (p.Pro207=)
|
rs140107510
|
0.00350
|
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)
|
rs140501902
|
0.00349
|
NM_000742.4(CHRNA2):c.*384G>A
|
rs76428534
|
0.00349
|
NM_001205293.3(CACNA1E):c.4089G>T (p.Leu1363=)
|
rs199667506
|
0.00349
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
NM_000484.4(APP):c.2124C>T (p.Gly708=)
|
rs148888161
|
0.00348
|
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr)
|
rs146416468
|
0.00348
|
NM_021098.3(CACNA1H):c.827G>A (p.Arg276Gln)
|
rs59709076
|
0.00348
|
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly)
|
rs141930579
|
0.00348
|
NM_000368.5(TSC1):c.-99C>T
|
rs114755636
|
0.00347
|
NM_000702.4(ATP1A2):c.*932T>C
|
rs183455719
|
0.00347
|
NM_002693.3(POLG):c.1126C>T (p.Leu376=)
|
rs116165908
|
0.00347
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_025219.3(DNAJC5):c.*1235C>T
|
rs149675982
|
0.00347
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_001205293.3(CACNA1E):c.2298-16C>T
|
rs189050461
|
0.00345
|
NM_002361.4(MAG):c.246C>T (p.His82=)
|
rs142156011
|
0.00345
|
NM_002693.3(POLG):c.852C>T (p.Ile284=)
|
rs41540414
|
0.00345
|
NM_003119.4(SPG7):c.1779+20G>A
|
rs145805850
|
0.00345
|
NM_001205293.3(CACNA1E):c.6515A>G (p.Tyr2172Cys)
|
rs74695054
|
0.00344
|
NM_013254.4(TBK1):c.1761-11C>T
|
rs145696668
|
0.00344
|
NM_014249.4(NR2E3):c.349+8G>A
|
rs112520386
|
0.00344
|
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=)
|
rs114484315
|
0.00344
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr)
|
rs61745091
|
0.00343
|
NM_001160148.2(DDHD1):c.1012+619C>A
|
rs192493244
|
0.00343
|
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)
|
rs80132141
|
0.00343
|
NM_001110792.2(MECP2):c.*2956G>A
|
rs267608358
|
0.00342
|
NM_000108.5(DLD):c.1236+13A>G
|
rs2701026
|
0.00341
|
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys)
|
rs202055175
|
0.00341
|
NM_003924.4(PHOX2B):c.*1126C>G
|
rs118046131
|
0.00341
|
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)
|
rs201687417
|
0.00341
|
NM_015338.6(ASXL1):c.540C>T (p.Asn180=)
|
rs74346706
|
0.00341
|
NM_018723.4(RBFOX1):c.137C>A (p.Pro46His)
|
rs113298071
|
0.00341
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
NM_000061.3(BTK):c.*221G>T
|
rs1122765
|
0.00340
|
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile)
|
rs61750375
|
0.00340
|
NM_001374828.1(ARID1B):c.4965C>T (p.Ile1655=)
|
rs150010654
|
0.00340
|
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=)
|
rs113389928
|
0.00340
|
NM_000021.3(PSEN1):c.-528C>G
|
rs34086577
|
0.00339
|
NM_006030.4(CACNA2D2):c.3369C>T (p.Leu1123=)
|
rs77176698
|
0.00339
|
NM_014236.4(GNPAT):c.555A>T (p.Ile185=)
|
rs34613633
|
0.00339
|
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile)
|
rs35079654
|
0.00339
|
NM_198578.4(LRRK2):c.4318-6C>T
|
rs56082834
|
0.00339
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00338
|
NM_000484.4(APP):c.*914G>A
|
rs736479
|
0.00338
|
NM_033305.3(VPS13A):c.101-7T>C
|
rs190684534
|
0.00338
|
NM_144599.5(NIPA1):c.*5237G>C
|
rs74003089
|
0.00338
|
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=)
|
rs34451610
|
0.00337
|
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)
|
rs116413446
|
0.00337
|
NM_012073.5(CCT5):c.*487C>T
|
rs144767471
|
0.00337
|
NM_013275.6(ANKRD11):c.601+7A>G
|
rs202074713
|
0.00337
|
NM_139058.3(ARX):c.1074-3T>C
|
rs200700643
|
0.00337
|
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)
|
rs56338023
|
0.00336
|
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)
|
rs148934699
|
0.00336
|
NM_002087.4(GRN):c.546G>A (p.Thr182=)
|
rs138473783
|
0.00335
|
NM_153252.5(BRWD3):c.*5133G>T
|
rs41307391
|
0.00335
|
NM_171998.4(RAB39B):c.*1040C>T
|
rs185958813
|
0.00335
|
NM_000044.6(AR):c.1788C>T (p.Cys596=)
|
rs150303722
|
0.00334
|
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)
|
rs201059992
|
0.00334
|
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu)
|
rs142149782
|
0.00334
|
NM_005051.3(QARS1):c.1671G>T (p.Val557=)
|
rs115671018
|
0.00334
|
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=)
|
rs140115896
|
0.00334
|
NM_018325.5(C9orf72):c.528T>C (p.Leu176=)
|
rs34608611
|
0.00334
|
NM_018941.4(CLN8):c.777T>C (p.Asn259=)
|
rs34814682
|
0.00334
|
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)
|
rs77134982
|
0.00334
|
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)
|
rs3219155
|
0.00334
|
NM_025219.3(DNAJC5):c.*1342G>A
|
rs41278218
|
0.00334
|
NM_007347.5(AP4E1):c.1177-9T>C
|
rs145851652
|
0.00333
|
NM_001288705.3(CSF1R):c.2760G>C (p.Glu920Asp)
|
rs34030164
|
0.00332
|
NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly)
|
rs56048668
|
0.00332
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650
|
0.00332
|
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg)
|
rs144922627
|
0.00332
|
NM_030930.4(UNC93B1):c.907-5C>T
|
rs144979304
|
0.00332
|
NM_007198.4(PLPBP):c.157A>G (p.Met53Val)
|
rs79148472
|
0.00331
|
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr)
|
rs144147210
|
0.00331
|
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)
|
rs140848350
|
0.00331
|
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)
|
rs55857552
|
0.00330
|
NM_001205293.3(CACNA1E):c.1119G>A (p.Gln373=)
|
rs111619313
|
0.00330
|
NM_014053.4(FLVCR1):c.*3032G>T
|
rs76321605
|
0.00330
|
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=)
|
rs75234317
|
0.00330
|
NM_021815.5(SLC5A7):c.826C>T (p.Leu276=)
|
rs78245030
|
0.00330
|
NM_030930.4(UNC93B1):c.1772G>A (p.Gly591Glu)
|
rs531159136
|
0.00330
|
NM_182961.4(SYNE1):c.17542-14A>G
|
rs111686341
|
0.00330
|
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=)
|
rs16017
|
0.00329
|
NM_001288705.3(CSF1R):c.1552G>A (p.Val518Met)
|
rs138432536
|
0.00329
|
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=)
|
rs151274586
|
0.00329
|
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=)
|
rs115889896
|
0.00329
|
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=)
|
rs202182837
|
0.00329
|
NM_016219.5(MAN1B1):c.1896+7A>G
|
rs143544706
|
0.00329
|
NM_018325.5(C9orf72):c.*837G>A
|
rs80172172
|
0.00329
|
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=)
|
rs61737409
|
0.00329
|
NM_000481.4(AMT):c.-1G>A
|
rs143841175
|
0.00328
|
NM_001130823.3(DNMT1):c.4599C>T (p.Leu1533=)
|
rs145860233
|
0.00328
|
NM_152564.5(VPS13B):c.*655G>C
|
rs78305289
|
0.00328
|
NM_000044.6(AR):c.1743G>A (p.Lys581=)
|
rs6154
|
0.00327
|
NM_000742.4(CHRNA2):c.-379T>C
|
rs75861520
|
0.00327
|
NM_001122752.2(SERPINI1):c.482-20A>G
|
rs2420038
|
0.00327
|
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=)
|
rs77684216
|
0.00327
|
NM_020919.4(ALS2):c.*1202C>T
|
rs41309068
|
0.00327
|
NM_001244008.2(KIF1A):c.3202+10C>A
|
rs190997558
|
0.00326
|
NM_002087.4(GRN):c.1227G>A (p.Thr409=)
|
rs140298583
|
0.00326
|
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)
|
rs540997326
|
0.00326
|
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=)
|
rs144969662
|
0.00326
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_016219.5(MAN1B1):c.220-20A>C
|
rs116149955
|
0.00326
|
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser)
|
rs114755364
|
0.00326
|
NM_032776.3(JMJD1C):c.1392G>A (p.Ser464=)
|
rs142118527
|
0.00326
|
NM_001032221.6(STXBP1):c.247-8A>G
|
rs199827018
|
0.00325
|
NM_001099922.3(ALG13):c.2248-4A>G
|
rs370438099
|
0.00325
|
NM_001134407.3(GRIN2A):c.*39G>A
|
rs141956850
|
0.00325
|
NM_001271.4(CHD2):c.4138-6T>C
|
rs182330071
|
0.00325
|
NM_002087.4(GRN):c.-38T>C
|
rs530686556
|
0.00325
|
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=)
|
rs151080601
|
0.00325
|
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=)
|
rs35106977
|
0.00325
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys)
|
rs34758634
|
0.00324
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_001244008.2(KIF1A):c.183+7C>T
|
rs74469870
|
0.00324
|
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser)
|
rs12061667
|
0.00324
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=)
|
rs73466090
|
0.00324
|
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=)
|
rs61734526
|
0.00323
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
NM_001127178.3(PIGG):c.771G>A (p.Thr257=)
|
rs35496504
|
0.00322
|
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg)
|
rs61731464
|
0.00322
|
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271
|
0.00322
|
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317
|
0.00322
|
NM_014053.4(FLVCR1):c.*2540T>C
|
rs79275553
|
0.00322
|
NM_016219.5(MAN1B1):c.1897-12G>A
|
rs76740252
|
0.00322
|
NM_000153.4(GALC):c.1236T>A (p.Val412=)
|
rs112531377
|
0.00321
|
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)
|
rs144679294
|
0.00321
|
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)
|
rs146682319
|
0.00321
|
NM_001134407.3(GRIN2A):c.*6323C>T
|
rs148431972
|
0.00320
|
NM_004380.3(CREBBP):c.333C>T (p.Asn111=)
|
rs150229705
|
0.00320
|
NM_005359.6(SMAD4):c.*5259A>T
|
rs139414609
|
0.00320
|
NM_014855.3(AP5Z1):c.1133-19G>C
|
rs148117172
|
0.00320
|
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=)
|
rs59090452
|
0.00320
|
NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=)
|
rs61761891
|
0.00319
|
NM_001134407.3(GRIN2A):c.*8396T>C
|
rs192548671
|
0.00319
|
NM_005045.4(RELN):c.565C>T (p.His189Tyr)
|
rs115806540
|
0.00319
|
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=)
|
rs146915189
|
0.00319
|
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)
|
rs151166497
|
0.00319
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_003719.5(PDE8B):c.2274C>T (p.Cys758=)
|
rs116781254
|
0.00318
|
NM_005051.3(QARS1):c.1014T>C (p.Tyr338=)
|
rs138685078
|
0.00318
|
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)
|
rs60593994
|
0.00318
|
NM_033064.4(ATCAY):c.-390A>G
|
rs140876148
|
0.00318
|
NM_018718.3(CEP41):c.*2482A>T
|
rs189091601
|
0.00317
|
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=)
|
rs34510365
|
0.00316
|
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)
|
rs114727970
|
0.00316
|
NM_006186.4(NR4A2):c.*352C>A
|
rs115393922
|
0.00316
|
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr)
|
rs146091043
|
0.00315
|
NM_001085411.3(NADK2):c.210G>T (p.Arg70=)
|
rs189482969
|
0.00315
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)
|
rs111558968
|
0.00315
|
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly)
|
rs61749614
|
0.00315
|
NM_013254.4(TBK1):c.519G>A (p.Leu173=)
|
rs73313869
|
0.00315
|
NM_025136.4(OPA3):c.*80G>T
|
rs540023428
|
0.00315
|
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=)
|
rs190603219
|
0.00314
|
NM_001134407.3(GRIN2A):c.*5672C>T
|
rs9922811
|
0.00314
|
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=)
|
rs79713097
|
0.00314
|
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=)
|
rs61729923
|
0.00314
|
NM_001958.5(EEF1A2):c.1030-8G>A
|
rs112283537
|
0.00314
|
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=)
|
rs140948457
|
0.00314
|
NM_030930.4(UNC93B1):c.393-10C>T
|
rs117183629
|
0.00314
|
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met)
|
rs143873938
|
0.00313
|
NM_001134407.3(GRIN2A):c.*5598G>A
|
rs13330899
|
0.00313
|
NM_001199753.2(CPT1C):c.1524A>G (p.Thr508=)
|
rs181225621
|
0.00313
|
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile)
|
rs61742715
|
0.00313
|
NM_001352514.2(HLCS):c.1893-6C>T
|
rs139904712
|
0.00313
|
NM_001371928.1(AHDC1):c.3054C>T (p.Ala1018=)
|
rs78511171
|
0.00313
|
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=)
|
rs142250604
|
0.00313
|
NM_000284.4(PDHA1):c.510+12C>T
|
rs201869402
|
0.00312
|
NM_000391.4(TPP1):c.381-23G>T
|
rs181191327
|
0.00312
|
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)
|
rs11552531
|
0.00312
|
NM_001350451.2(RBFOX3):c.360+16C>T
|
rs550827396
|
0.00312
|
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=)
|
rs142391292
|
0.00312
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
NM_003793.4(CTSF):c.458A>G (p.Gln153Arg)
|
rs11550508
|
0.00311
|
NM_007126.5(VCP):c.1360-14C>G
|
rs144304208
|
0.00311
|
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=)
|
rs138164407
|
0.00311
|
NM_001032221.6(STXBP1):c.325+8C>T
|
rs117372398
|
0.00310
|
NM_001165963.4(SCN1A):c.4002+2422A>G
|
rs185755900
|
0.00310
|
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=)
|
rs146240413
|
0.00310
|
NM_152743.4(BRAT1):c.1689G>A (p.Ala563=)
|
rs146276208
|
0.00310
|
NM_173728.4(ARHGEF15):c.2388G>T (p.Gly796=)
|
rs145204305
|
0.00310
|
NM_000368.5(TSC1):c.*3729G>T
|
rs543396172
|
0.00309
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln)
|
rs149339002
|
0.00309
|
NM_000330.4(RS1):c.76G>A (p.Glu26Lys)
|
rs140983930
|
0.00308
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly)
|
rs61735309
|
0.00308
|
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_005120.3(MED12):c.1248+15T>C
|
rs187377817
|
0.00307
|
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu)
|
rs80358239
|
0.00307
|
NM_001111125.3(IQSEC2):c.3277+18G>A
|
rs143966238
|
0.00306
|
NM_001363118.2(SLC52A2):c.1001+6C>T
|
rs139398461
|
0.00306
|
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=)
|
rs139528715
|
0.00306
|
NM_001540.4(HSPB1):c.-56C>T
|
rs35759978
|
0.00306
|
NM_000306.4(POU1F1):c.143-4A>T
|
rs35893626
|
0.00305
|
NM_014795.4(ZEB2):c.403+18C>T
|
rs116404871
|
0.00305
|
NM_021625.5(TRPV4):c.*378G>C
|
rs538255561
|
0.00305
|
NM_000370.3(TTPA):c.664-4T>G
|
rs2045224
|
0.00304
|
NM_001111.5(ADAR):c.2553C>T (p.Cys851=)
|
rs138927668
|
0.00304
|
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp)
|
rs202216463
|
0.00304
|
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)
|
rs190664764
|
0.00304
|
NM_001374828.1(ARID1B):c.4812T>G (p.Pro1604=)
|
rs141783755
|
0.00304
|
NM_007118.4(TRIO):c.5496+34G>A
|
rs62345056
|
0.00304
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
NM_031844.3(HNRNPU):c.1743+8G>T
|
rs75674611
|
0.00304
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_001363118.2(SLC52A2):c.555C>T (p.Leu185=)
|
rs74370046
|
0.00303
|
NM_016219.5(MAN1B1):c.1065+16T>A
|
rs200957986
|
0.00303
|
NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile)
|
rs143223086
|
0.00302
|
NM_001085411.3(NADK2):c.438A>C (p.Glu146Asp)
|
rs181647494
|
0.00302
|
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=)
|
rs116415979
|
0.00302
|
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)
|
rs148291156
|
0.00302
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys)
|
rs116642123
|
0.00302
|
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=)
|
rs35648048
|
0.00302
|
NM_031448.6(C19orf12):c.*2117G>A
|
rs184117483
|
0.00302
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=)
|
rs75469773
|
0.00302
|
NM_001110792.2(MECP2):c.*2657G>A
|
rs3027921
|
0.00301
|
NM_001110792.2(MECP2):c.413+28A>G
|
rs185036026
|
0.00301
|
NM_004519.4(KCNQ3):c.1236-16C>T
|
rs201168632
|
0.00301
|
NM_005591.4(MRE11):c.771A>G (p.Glu257=)
|
rs13447632
|
0.00301
|
NM_006030.4(CACNA2D2):c.1833G>A (p.Lys611=)
|
rs41305892
|
0.00301
|
NM_001540.5(HSPB1):c.*22C>T
|
rs557532119
|
0.00300
|
NM_004268.5(MED17):c.978G>C (p.Val326=)
|
rs2276311
|
0.00300
|
NM_005045.4(RELN):c.7086C>T (p.Thr2362=)
|
rs362747
|
0.00300
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00300
|
NM_018834.6(MATR3):c.*313A>G
|
rs180806333
|
0.00300
|
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)
|
rs141246107
|
0.00299
|
NM_001130823.3(DNMT1):c.891+8C>T
|
rs117294281
|
0.00299
|
NM_001134407.3(GRIN2A):c.*7326C>T
|
rs142407415
|
0.00299
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_001958.5(EEF1A2):c.1296G>A (p.Thr432=)
|
rs200259257
|
0.00299
|
NM_003477.3(PDHX):c.*27A>C
|
rs74524673
|
0.00299
|
NM_005051.3(QARS1):c.1295+13T>C
|
rs149070379
|
0.00299
|
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met)
|
rs28365117
|
0.00299
|
NM_000153.4(GALC):c.1670+19A>T
|
rs141839955
|
0.00298
|
NM_003793.4(CTSF):c.1231-13T>C
|
rs199830949
|
0.00298
|
NM_014467.3(SRPX2):c.460C>G (p.His154Asp)
|
rs73636611
|
0.00298
|
NM_001040142.2(SCN2A):c.*1507T>G
|
rs149580267
|
0.00297
|
NM_001205293.3(CACNA1E):c.6399+3G>A
|
rs377238885
|
0.00297
|
NM_001347721.2(DYRK1A):c.208-40C>G
|
rs140466090
|
0.00297
|
NM_001367561.1(DOCK7):c.2859+12A>G
|
rs201742189
|
0.00297
|
NM_001846.4(COL4A2):c.3234A>C (p.Ala1078=)
|
rs148837052
|
0.00297
|
NM_004565.3(PEX14):c.299-16C>T
|
rs201545377
|
0.00297
|
NM_020708.5(SLC12A5):c.1569+13G>A
|
rs75931039
|
0.00297
|
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=)
|
rs13440710
|
0.00296
|
NM_001244008.2(KIF1A):c.2266-20G>A
|
rs141243762
|
0.00296
|
NM_001330574.2(ZNF711):c.*1411G>A
|
rs779890560
|
0.00296
|
NM_002137.4(HNRNPA2B1):c.721+19T>C
|
rs183451681
|
0.00296
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_198578.4(LRRK2):c.*1181C>T
|
rs147956597
|
0.00296
|
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033
|
0.00295
|
NM_001130823.3(DNMT1):c.925C>G (p.Leu309Val)
|
rs61758430
|
0.00295
|
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu)
|
rs73693125
|
0.00295
|
NM_021098.3(CACNA1H):c.5445+4C>T
|
rs147142971
|
0.00295
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
NM_173728.4(ARHGEF15):c.67C>T (p.Arg23Cys)
|
rs137909519
|
0.00294
|
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)
|
rs116679717
|
0.00293
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=)
|
rs79909111
|
0.00293
|
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=)
|
rs149729439
|
0.00292
|
NM_007375.4(TARDBP):c.198T>C (p.Ala66=)
|
rs61730366
|
0.00292
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)
|
rs61749738
|
0.00291
|
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=)
|
rs114391904
|
0.00291
|
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser)
|
rs200664441
|
0.00291
|
NM_005045.4(RELN):c.6228C>T (p.Ser2076=)
|
rs115379833
|
0.00291
|
NM_001077350.3(NPRL3):c.629+9G>C
|
rs142080016
|
0.00290
|
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)
|
rs61740909
|
0.00290
|
NM_001352514.2(HLCS):c.2451-19C>T
|
rs78671947
|
0.00290
|
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=)
|
rs139793443
|
0.00290
|
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=)
|
rs115816749
|
0.00290
|
NM_001382391.1(CSPP1):c.484-15T>G
|
rs199671558
|
0.00290
|
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=)
|
rs112506924
|
0.00290
|
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=)
|
rs142111310
|
0.00290
|
NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His)
|
rs141230513
|
0.00290
|
NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser)
|
rs140860785
|
0.00290
|
NM_007254.4(PNKP):c.939T>C (p.Phe313=)
|
rs149731642
|
0.00290
|
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)
|
rs74463786
|
0.00290
|
NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=)
|
rs73424033
|
0.00289
|
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=)
|
rs115902470
|
0.00289
|
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=)
|
rs35946460
|
0.00289
|
NM_000096.4(CP):c.2878+12T>G
|
rs35848147
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_001429.4(EP300):c.1623-20T>C
|
rs151092312
|
0.00288
|
NM_005573.4(LMNB1):c.852T>C (p.Ser284=)
|
rs61726489
|
0.00288
|
NM_006612.6(KIF1C):c.1937+14A>C
|
rs188650236
|
0.00288
|
NM_014855.3(AP5Z1):c.774G>A (p.Pro258=)
|
rs373689894
|
0.00288
|
NM_020919.4(ALS2):c.2842-20C>T
|
rs189282198
|
0.00288
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)
|
rs145733598
|
0.00287
|
NM_005045.4(RELN):c.906C>T (p.Ala302=)
|
rs114494558
|
0.00287
|
NM_014855.3(AP5Z1):c.768G>A (p.Glu256=)
|
rs377532483
|
0.00287
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=)
|
rs147784739
|
0.00286
|
NM_000368.5(TSC1):c.*1902T>G
|
rs142038787
|
0.00285
|
NM_001130438.3(SPTAN1):c.931-16C>T
|
rs149289060
|
0.00285
|
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=)
|
rs2229009
|
0.00285
|
NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=)
|
rs146025366
|
0.00285
|
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)
|
rs1049882
|
0.00284
|
NM_005591.4(MRE11):c.1783+5G>C
|
rs142082313
|
0.00284
|
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala)
|
rs56017612
|
0.00284
|
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)
|
rs150179494
|
0.00284
|
NM_000021.4(PSEN1):c.*4030A>G
|
rs186752250
|
0.00283
|
NM_005045.4(RELN):c.416C>G (p.Thr139Ser)
|
rs79471015
|
0.00283
|
NM_006030.4(CACNA2D2):c.2863-19G>A
|
rs201054236
|
0.00283
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
NM_024989.4(PGAP1):c.906T>C (p.Leu302=)
|
rs138525017
|
0.00283
|
NM_153252.5(BRWD3):c.*4272C>T
|
rs190439155
|
0.00283
|
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys)
|
rs148346599
|
0.00283
|
NM_001112741.2(KCNC1):c.570+19A>T
|
rs186151622
|
0.00282
|
NM_001160148.2(DDHD1):c.1993-17T>G
|
rs112572275
|
0.00282
|
NM_001429.4(EP300):c.2064A>G (p.Leu688=)
|
rs61756763
|
0.00282
|
NM_004960.4(FUS):c.636C>T (p.Asp212=)
|
rs147528034
|
0.00282
|
NM_145725.3(TRAF3):c.1509C>T (p.Ser503=)
|
rs138943371
|
0.00282
|
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=)
|
rs79219767
|
0.00281
|
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala)
|
rs200660997
|
0.00281
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)
|
rs112581563
|
0.00281
|
NM_015915.5(ATL1):c.*475G>A
|
rs111734056
|
0.00281
|
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730
|
0.00280
|
NM_000368.5(TSC1):c.*2708G>C
|
rs150433809
|
0.00280
|
NM_001845.6(COL4A1):c.*975A>C
|
rs28362515
|
0.00280
|
NM_003900.5(SQSTM1):c.755-90dup
|
rs145727617
|
0.00280
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)
|
rs146478958
|
0.00280
|
NM_012193.4(FZD4):c.*4883G>T
|
rs147967476
|
0.00280
|
NM_013254.4(TBK1):c.9C>T (p.Ser3=)
|
rs115692983
|
0.00280
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
NM_000288.4(PEX7):c.526+14T>C
|
rs73777756
|
0.00279
|
NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=)
|
rs12089231
|
0.00279
|
NM_032776.3(JMJD1C):c.6948G>A (p.Leu2316=)
|
rs79059103
|
0.00279
|
NM_152296.5(ATP1A3):c.2819+20G>A
|
rs148592392
|
0.00279
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00278
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=)
|
rs192386572
|
0.00278
|
NM_005359.6(SMAD4):c.*2796G>T
|
rs4939651
|
0.00278
|
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
|
rs200957609
|
0.00278
|
NM_000081.4(LYST):c.5223T>C (p.Leu1741=)
|
rs7530527
|
0.00277
|
NM_001040142.2(SCN2A):c.387-10G>A
|
rs2304015
|
0.00277
|
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)
|
rs202102758
|
0.00277
|
NM_005359.6(SMAD4):c.*5419T>C
|
rs146551171
|
0.00277
|
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)
|
rs149903666
|
0.00277
|
NM_006397.3(RNASEH2A):c.412-6T>G
|
rs192358167
|
0.00277
|
NM_006612.6(KIF1C):c.153C>T (p.Thr51=)
|
rs147583562
|
0.00277
|
NM_006946.4(SPTBN2):c.5950-8G>A
|
rs201759431
|
0.00277
|
NM_014795.4(ZEB2):c.489C>T (p.Ile163=)
|
rs138859323
|
0.00277
|
NM_014846.4(WASHC5):c.-245C>G
|
rs185375174
|
0.00277
|
NM_001386140.1(MTTP):c.-6G>A
|
rs41275707
|
0.00276
|
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=)
|
rs147402839
|
0.00276
|
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly)
|
rs35297226
|
0.00276
|
NM_005076.5(CNTN2):c.2845-12T>C
|
rs74139115
|
0.00275
|
NM_007262.5(PARK7):c.252+18A>G
|
rs147308281
|
0.00275
|
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669
|
0.00275
|
NM_016373.4(WWOX):c.*3G>T
|
rs140060332
|
0.00275
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_007327.4(GRIN1):c.394-11G>A
|
rs75081117
|
0.00274
|
NM_015192.4(PLCB1):c.1336-18G>A
|
rs140846963
|
0.00274
|
NM_015214.3(DDHD2):c.1168C>T (p.Leu390=)
|
rs142190071
|
0.00274
|
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)
|
rs201088847
|
0.00274
|
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp)
|
rs76191655
|
0.00274
|
NM_018206.6(VPS35):c.1398G>A (p.Thr466=)
|
rs150810185
|
0.00274
|
NM_032776.3(JMJD1C):c.1682C>G (p.Ser561Cys)
|
rs149889210
|
0.00274
|
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=)
|
rs112266645
|
0.00274
|
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=)
|
rs57972893
|
0.00273
|
NM_001130823.2(DNMT1):c.*323C>G
|
rs146694575
|
0.00273
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00273
|
NM_000096.4(CP):c.394+19G>A
|
rs188121726
|
0.00272
|
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)
|
rs192354176
|
0.00272
|
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln)
|
rs147584361
|
0.00272
|
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
|
rs61745066
|
0.00272
|
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln)
|
rs76603692
|
0.00272
|
NM_006267.5(RANBP2):c.3461A>T (p.His1154Leu)
|
rs77443930
|
0.00272
|
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val)
|
rs61758804
|
0.00272
|
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)
|
rs34781846
|
0.00272
|
NM_015346.4(ZFYVE26):c.7371+18C>T
|
rs149769693
|
0.00272
|
NM_152564.5(VPS13B):c.4746-15T>C
|
rs117058417
|
0.00272
|
NM_003334.4(UBA1):c.346-3C>A
|
rs149947901
|
0.00271
|
NM_004204.5(PIGQ):c.34G>A (p.Val12Ile)
|
rs11864607
|
0.00271
|
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_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_001288705.3(CSF1R):c.*64C>T
|
rs144642625
|
0.00270
|
NM_004385.5(VCAN):c.9234G>A (p.Glu3078=)
|
rs139453864
|
0.00270
|
NM_006087.4(TUBB4A):c.585T>C (p.Asn195=)
|
rs139391205
|
0.00270
|
NM_006267.5(RANBP2):c.7850-6T>G
|
rs183569993
|
0.00270
|
NM_007126.5(VCP):c.927C>T (p.Ile309=)
|
rs34097935
|
0.00270
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
NM_018026.4(PACS1):c.2376C>T (p.Ala792=)
|
rs145601427
|
0.00270
|
NM_144599.5(NIPA1):c.*5044G>C
|
rs191543264
|
0.00270
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe)
|
rs148279196
|
0.00269
|
NM_005359.6(SMAD4):c.455-6A>G
|
rs181178864
|
0.00269
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=)
|
rs114747836
|
0.00268
|
NM_001244008.2(KIF1A):c.3816+18C>T
|
rs201725464
|
0.00267
|
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=)
|
rs35339954
|
0.00267
|
NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser)
|
rs753363173
|
0.00267
|
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)
|
rs148904096
|
0.00267
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=)
|
rs151137503
|
0.00267
|
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr)
|
rs146515654
|
0.00267
|
NM_001111.5(ADAR):c.2668+20A>C
|
rs115805812
|
0.00266
|
NM_002778.4(PSAP):c.189C>T (p.Cys63=)
|
rs111369573
|
0.00266
|
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)
|
rs78501232
|
0.00266
|
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile)
|
rs28943592
|
0.00265
|
NM_001024845.3(SLC6A9):c.1537-6G>A
|
rs113184612
|
0.00265
|
NM_012193.4(FZD4):c.*2639A>G
|
rs145929150
|
0.00265
|
NM_030930.4(UNC93B1):c.626C>T (p.Pro209Leu)
|
rs144399212
|
0.00265
|
NM_004385.5(VCAN):c.*1031T>C
|
rs548595991
|
0.00264
|
NM_018100.4(EFHC1):c.25T>C (p.Leu9=)
|
rs149315015
|
0.00264
|
NM_021830.5(TWNK):c.*301C>T
|
rs41291468
|
0.00264
|
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)
|
rs147274045
|
0.00264
|
NM_000454.5(SOD1):c.*339C>T
|
rs17880487
|
0.00263
|
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=)
|
rs201145311
|
0.00263
|
NM_003119.4(SPG7):c.987+19G>A
|
rs62071462
|
0.00263
|
NM_015915.5(ATL1):c.621G>A (p.Lys207=)
|
rs35629585
|
0.00263
|
NM_025243.4(SLC19A3):c.546G>A (p.Val182=)
|
rs143188189
|
0.00263
|
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu)
|
rs55915440
|
0.00262
|
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)
|
rs45569837
|
0.00262
|
NM_000815.5(GABRD):c.405C>T (p.His135=)
|
rs61742636
|
0.00262
|
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)
|
rs374664760
|
0.00262
|
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=)
|
rs142861804
|
0.00262
|
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)
|
rs115993270
|
0.00262
|
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=)
|
rs141018126
|
0.00262
|
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile)
|
rs2303708
|
0.00262
|
NM_030930.4(UNC93B1):c.385C>A (p.Leu129Ile)
|
rs146593182
|
0.00262
|
NM_139318.5(KCNH5):c.775C>T (p.Leu259=)
|
rs142666361
|
0.00262
|
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)
|
rs142099123
|
0.00261
|
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)
|
rs201251634
|
0.00261
|
NM_001182.4(ALDH7A1):c.-34G>C
|
rs140627539
|
0.00261
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
NM_018100.4(EFHC1):c.887G>A (p.Arg296His)
|
rs115205076
|
0.00261
|
NM_152564.5(VPS13B):c.9330+9A>G
|
rs184381851
|
0.00261
|
NM_000311.5(PRNP):c.204T>C (p.Pro68=)
|
rs532493114
|
0.00260
|
NM_001374828.1(ARID1B):c.6171C>T (p.Ile2057=)
|
rs142499766
|
0.00260
|
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=)
|
rs142813933
|
0.00260
|
NM_021625.5(TRPV4):c.712+10C>T
|
rs115657305
|
0.00260
|
NM_144599.5(NIPA1):c.*4218G>A
|
rs182099304
|
0.00260
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)
|
rs138658585
|
0.00259
|
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu)
|
rs11558704
|
0.00258
|
NM_001165963.4(SCN1A):c.*588A>G
|
rs539073575
|
0.00258
|
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=)
|
rs41287092
|
0.00258
|
NM_001371928.1(AHDC1):c.286C>T (p.Arg96Cys)
|
rs141734980
|
0.00258
|
NM_001429.4(EP300):c.5814G>A (p.Thr1938=)
|
rs112948044
|
0.00258
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
NM_005591.4(MRE11):c.969A>G (p.Pro323=)
|
rs13447633
|
0.00258
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu)
|
rs142119277
|
0.00258
|
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)
|
rs80075498
|
0.00257
|
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)
|
rs138609094
|
0.00257
|
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=)
|
rs533182720
|
0.00257
|
NM_001003800.2(BICD2):c.454-19T>C
|
rs114997314
|
0.00256
|
NM_001040142.2(SCN2A):c.*1036T>C
|
rs562663760
|
0.00256
|
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)
|
rs3027927
|
0.00256
|
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)
|
rs117844037
|
0.00256
|
NM_001112741.2(KCNC1):c.1629C>T (p.Tyr543=)
|
rs552972841
|
0.00255
|
NM_001130823.3(DNMT1):c.4773+18C>T
|
rs183300496
|
0.00255
|
NM_001205293.3(CACNA1E):c.4734C>T (p.Phe1578=)
|
rs115093623
|
0.00255
|
NM_006070.6(TFG):c.184+11T>C
|
rs200924045
|
0.00255
|
NM_205836.3(FBXO38):c.87T>C (p.Tyr29=)
|
rs77480566
|
0.00255
|
NM_000153.4(GALC):c.-463C>T
|
rs181956126
|
0.00254
|
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=)
|
rs149271718
|
0.00254
|
NM_001350451.2(RBFOX3):c.321C>T (p.Pro107=)
|
rs150282906
|
0.00254
|
NM_001371279.1(REEP1):c.*2485G>A
|
rs146273697
|
0.00254
|
NM_001385875.1(ZFYVE27):c.*500C>T
|
rs148426983
|
0.00254
|
NM_004960.3(FUS):c.*2988C>T
|
rs73530301
|
0.00254
|
NM_015214.3(DDHD2):c.2047T>A (p.Cys683Ser)
|
rs148536791
|
0.00254
|
NM_182961.4(SYNE1):c.17203-5C>T
|
rs886044642
|
0.00254
|
NM_001371928.1(AHDC1):c.470C>T (p.Ala157Val)
|
rs146915829
|
0.00253
|
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln)
|
rs148382699
|
0.00253
|
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)
|
rs150392503
|
0.00253
|
NM_021815.5(SLC5A7):c.713A>G (p.Tyr238Cys)
|
rs142776152
|
0.00253
|
NM_000081.4(LYST):c.2363+4T>C
|
rs201398337
|
0.00252
|
NM_000284.4(PDHA1):c.*1208A>C
|
rs369499936
|
0.00252
|
NM_000345.4(SNCA):c.408C>T (p.Tyr136=)
|
rs76642636
|
0.00252
|
NM_000405.5(GM2A):c.*2430T>C
|
rs3734041
|
0.00252
|
NM_000405.5(GM2A):c.*2767C>T
|
rs117832237
|
0.00252
|
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=)
|
rs149859004
|
0.00252
|
NM_001242896.3(DEPDC5):c.3810C>T (p.Ala1270=)
|
rs200033252
|
0.00252
|
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=)
|
rs187810230
|
0.00252
|
NM_001256864.2(DNAJC6):c.194-18T>G
|
rs201249130
|
0.00252
|
NM_001371928.1(AHDC1):c.561C>T (p.His187=)
|
rs116570071
|
0.00252
|
NM_001846.4(COL4A2):c.1669+5G>C
|
rs147210424
|
0.00252
|
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=)
|
rs2072381
|
0.00252
|
NM_007126.5(VCP):c.-267C>T
|
rs184152880
|
0.00252
|
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val)
|
rs17687375
|
0.00252
|
NM_198578.4(LRRK2):c.5510-9A>G
|
rs41286460
|
0.00252
|
NM_000454.5(SOD1):c.*2C>T
|
rs1804447
|
0.00251
|
NM_001040142.2(SCN2A):c.*853C>T
|
rs188104763
|
0.00251
|
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)
|
rs142647321
|
0.00251
|
NM_006087.4(TUBB4A):c.189G>A (p.Ala63=)
|
rs150812047
|
0.00251
|
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn)
|
rs139175550
|
0.00251
|
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val)
|
rs112045467
|
0.00251
|
NM_000405.5(GM2A):c.*1829C>T
|
rs3806952
|
0.00250
|
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)
|
rs2306618
|
0.00250
|
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile)
|
rs112095333
|
0.00250
|
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=)
|
rs115689748
|
0.00250
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=)
|
rs72836208
|
0.00250
|
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=)
|
rs61750052
|
0.00249
|
NM_001374828.1(ARID1B):c.1791+19G>C
|
rs374013482
|
0.00249
|
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=)
|
rs147755372
|
0.00249
|
NM_003719.5(PDE8B):c.-23G>T
|
rs574193520
|
0.00249
|
NM_004204.5(PIGQ):c.1568G>A (p.Gly523Asp)
|
rs117537178
|
0.00249
|
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)
|
rs143916832
|
0.00249
|
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp)
|
rs61729932
|
0.00249
|
NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp)
|
rs200810453
|
0.00249
|
NM_000447.3(PSEN2):c.1200T>C (p.Cys400=)
|
rs138494303
|
0.00248
|
NM_001165963.4(SCN1A):c.1377+10C>T
|
rs56112036
|
0.00248
|
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln)
|
rs201089795
|
0.00248
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
NM_005629.4(SLC6A8):c.813C>T (p.Val271=)
|
rs138064933
|
0.00248
|
NM_025219.3(DNAJC5):c.*3204C>T
|
rs140377993
|
0.00248
|
NM_031844.3(HNRNPU):c.1743+10A>C
|
rs75053711
|
0.00248
|
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)
|
rs368002375
|
0.00247
|
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)
|
rs113615425
|
0.00247
|
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=)
|
rs56069016
|
0.00247
|
NM_003334.4(UBA1):c.2595A>G (p.Ala865=)
|
rs139492208
|
0.00247
|
NM_004408.4(DNM1):c.1197-7C>T
|
rs41306488
|
0.00247
|
NM_014855.3(AP5Z1):c.41+16G>A
|
rs139999461
|
0.00247
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
NM_004385.5(VCAN):c.574G>A (p.Gly192Arg)
|
rs141008923
|
0.00245
|
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=)
|
rs145249947
|
0.00245
|
NM_013254.4(TBK1):c.1522C>A (p.Leu508Ile)
|
rs144424516
|
0.00245
|
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=)
|
rs149584733
|
0.00245
|
NM_015046.7(SETX):c.*168C>T
|
rs115351494
|
0.00245
|
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile)
|
rs115683257
|
0.00245
|
NM_016032.4(ZDHHC9):c.167+10G>A
|
rs140526450
|
0.00244
|
NM_001130823.3(DNMT1):c.996C>T (p.Asp332=)
|
rs16999358
|
0.00243
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
NM_005765.3(ATP6AP2):c.38-5T>C
|
rs190477001
|
0.00243
|
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=)
|
rs139114208
|
0.00243
|
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=)
|
rs145374789
|
0.00243
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)
|
rs35331711
|
0.00242
|
NM_000702.4(ATP1A2):c.*1000T>G
|
rs116194737
|
0.00242
|
NM_001382391.1(CSPP1):c.3109+18C>T
|
rs139599638
|
0.00242
|
NM_003719.5(PDE8B):c.1698C>A (p.Ala566=)
|
rs140381860
|
0.00242
|
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met)
|
rs201370957
|
0.00242
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
NM_152564.5(VPS13B):c.11392+8G>A
|
rs147921058
|
0.00242
|
NM_000108.5(DLD):c.507C>T (p.Gly169=)
|
rs144351432
|
0.00241
|
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)
|
rs113955216
|
0.00241
|
NM_003334.4(UBA1):c.1233+13G>A
|
rs141049438
|
0.00241
|
NM_014043.4(CHMP2B):c.*1255G>T
|
rs144167614
|
0.00241
|
NM_203446.3(SYNJ1):c.*315G>A
|
rs145347648
|
0.00241
|
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly)
|
rs61735307
|
0.00240
|
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu)
|
rs75616428
|
0.00240
|
NM_004519.4(KCNQ3):c.*6199C>T
|
rs183259250
|
0.00240
|
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val)
|
rs10413655
|
0.00240
|
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=)
|
rs74162089
|
0.00240
|
NM_198994.3(TGM6):c.*87C>A
|
rs45544131
|
0.00240
|
NM_000726.5(CACNB4):c.655A>G (p.Met219Val)
|
rs201870832
|
0.00239
|
NM_001112741.2(KCNC1):c.1017A>C (p.Arg339=)
|
rs137989254
|
0.00239
|
NM_002578.5(PAK3):c.531G>A (p.Glu177=)
|
rs56270341
|
0.00239
|
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=)
|
rs115929614
|
0.00239
|
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=)
|
rs149678923
|
0.00238
|
NM_025219.3(DNAJC5):c.*1820C>A
|
rs182604967
|
0.00237
|
NM_030930.4(UNC93B1):c.1453G>A (p.Val485Met)
|
rs199824078
|
0.00237
|
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu)
|
rs139790539
|
0.00237
|
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
NM_000742.4(CHRNA2):c.449+12T>C
|
rs202012980
|
0.00236
|
NM_001134407.3(GRIN2A):c.*2236G>A
|
rs147419689
|
0.00236
|
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile)
|
rs150900514
|
0.00236
|
NM_001330723.2(SNX27):c.18G>A (p.Gly6=)
|
rs551180149
|
0.00236
|
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=)
|
rs115222767
|
0.00236
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_004519.4(KCNQ3):c.*2393A>G
|
rs139982273
|
0.00236
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)
|
rs183021839
|
0.00235
|
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=)
|
rs138826759
|
0.00235
|
NM_001040142.2(SCN2A):c.*557G>A
|
rs182846824
|
0.00235
|
NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=)
|
rs200603172
|
0.00235
|
NM_001257180.2(SLC20A2):c.*120C>G
|
rs569568894
|
0.00235
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly)
|
rs141120474
|
0.00235
|
NM_001845.6(COL4A1):c.*176A>G
|
rs11545877
|
0.00235
|
NM_001927.4(DES):c.*308C>A
|
rs140222667
|
0.00235
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu)
|
rs61751983
|
0.00235
|
NM_025233.7(COASY):c.25C>T (p.Leu9=)
|
rs117419466
|
0.00235
|
NM_152309.3(PIK3AP1):c.861T>C (p.Phe287=)
|
rs138990701
|
0.00235
|
NM_152617.4(RNF168):c.508G>A (p.Glu170Lys)
|
rs114025031
|
0.00235
|
NM_173728.4(ARHGEF15):c.54G>A (p.Arg18=)
|
rs138484229
|
0.00235
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_001359.2(DECR1):c.366T>C (p.Asp122=)
|
rs138725804
|
0.00234
|
NM_005211.4(CSF1R):c.-249G>A
|
rs180988739
|
0.00234
|
NM_032409.3(PINK1):c.387+14G>A
|
rs117438827
|
0.00234
|
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)
|
rs34664134
|
0.00233
|
NM_001127178.3(PIGG):c.1114+8A>G
|
rs182522437
|
0.00233
|
NM_001244008.2(KIF1A):c.1421+19G>A
|
rs200809257
|
0.00233
|
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)
|
rs547268941
|
0.00233
|
NM_003659.4(AGPS):c.*2548A>G
|
rs76966937
|
0.00233
|
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)
|
rs142528559
|
0.00233
|
NM_013275.6(ANKRD11):c.7296C>T (p.Ser2432=)
|
rs146648782
|
0.00233
|
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg)
|
rs143484278
|
0.00233
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_000368.5(TSC1):c.*2354A>G
|
rs114877981
|
0.00232
|
NM_001352514.2(HLCS):c.900G>A (p.Arg300=)
|
rs146019354
|
0.00232
|
NM_003079.5(SMARCE1):c.369+12G>T
|
rs58739414
|
0.00232
|
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile)
|
rs143213152
|
0.00232
|
NM_005506.4(SCARB2):c.171T>C (p.Pro57=)
|
rs199895330
|
0.00232
|
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
|
rs142199280
|
0.00232
|
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
|
rs117195882
|
0.00231
|
NM_000330.4(RS1):c.184+3208G>A
|
rs150900695
|
0.00231
|
NM_000475.5(NR0B1):c.588G>A (p.Leu196=)
|
rs138855021
|
0.00231
|
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)
|
rs10112748
|
0.00231
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00231
|
NM_000750.5(CHRNB4):c.1304C>T (p.Ala435Val)
|
rs56317523
|
0.00230
|
NM_001846.4(COL4A2):c.2011G>A (p.Gly671Ser)
|
rs143710874
|
0.00230
|
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)
|
rs141436407
|
0.00230
|
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=)
|
rs138435910
|
0.00230
|
NM_152296.5(ATP1A3):c.2921+11C>T
|
rs190570469
|
0.00230
|
NM_203446.3(SYNJ1):c.1546G>A (p.Val516Ile)
|
rs113708828
|
0.00230
|
NM_001032382.2(PQBP1):c.-18-69C>T
|
rs150603792
|
0.00229
|
NM_003265.3(TLR3):c.634-10C>A
|
rs113654222
|
0.00229
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
NM_006015.6(ARID1A):c.1188C>T (p.Gly396=)
|
rs61749356
|
0.00229
|
NM_025136.4(OPA3):c.*6554G>A
|
rs184177890
|
0.00229
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
NM_080628.3(TLDC2):c.*18-1G>T
|
rs138927042
|
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_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=)
|
rs28364998
|
0.00228
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)
|
rs191428830
|
0.00228
|
NM_001370658.1(BTD):c.1002G>A (p.Thr334=)
|
rs148764524
|
0.00228
|
NM_004738.5(VAPB):c.*4559A>G
|
rs73296848
|
0.00228
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_007347.5(AP4E1):c.2346+10C>T
|
rs112190952
|
0.00228
|
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)
|
rs115985012
|
0.00228
|
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val)
|
rs147000317
|
0.00228
|
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)
|
rs144455095
|
0.00228
|
NM_000811.3(GABRA6):c.805G>A (p.Val269Ile)
|
rs150866100
|
0.00227
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_001127178.3(PIGG):c.1254G>A (p.Thr418=)
|
rs139518242
|
0.00227
|
NM_001145809.2(MYH14):c.1329+15C>T
|
rs200176028
|
0.00227
|
NM_001242896.3(DEPDC5):c.2072T>C (p.Leu691Pro)
|
rs201464790
|
0.00227
|
NM_001242896.3(DEPDC5):c.2075C>T (p.Ser692Phe)
|
rs199783404
|
0.00227
|
NM_001385875.1(ZFYVE27):c.*413C>T
|
rs181508408
|
0.00227
|
NM_006267.5(RANBP2):c.225C>G (p.Asn75Lys)
|
rs144278795
|
0.00227
|
NM_022089.4(ATP13A2):c.1195+9C>T
|
rs117758987
|
0.00227
|
NM_182961.4(SYNE1):c.24297C>T (p.Ile8099=)
|
rs142222560
|
0.00227
|
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)
|
rs138183274
|
0.00227
|
NM_001134407.3(GRIN2A):c.1652-13T>C
|
rs201444481
|
0.00226
|
NM_001371596.2(MFSD8):c.*427G>C
|
rs142139835
|
0.00226
|
NM_001378452.1(ITPR1):c.*979A>T
|
rs147782346
|
0.00226
|
NM_005045.4(RELN):c.8811G>A (p.Ala2937=)
|
rs144728023
|
0.00226
|
NM_021098.3(CACNA1H):c.2603+20C>A
|
rs57600685
|
0.00226
|
NM_000742.4(CHRNA2):c.-447T>A
|
rs75312501
|
0.00225
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_000823.4(GHRHR):c.673G>A (p.Val225Ile)
|
rs28371560
|
0.00225
|
NM_001429.4(EP300):c.6636G>A (p.Gln2212=)
|
rs142673005
|
0.00225
|
NM_004385.5(VCAN):c.5750A>T (p.Tyr1917Phe)
|
rs141477510
|
0.00225
|
NM_004408.4(DNM1):c.1906-17T>C
|
rs191460911
|
0.00225
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_021625.5(TRPV4):c.1824+4C>T
|
rs147259744
|
0.00225
|
NM_052874.5(STX1B):c.205+16G>A
|
rs373330091
|
0.00225
|
NM_152722.5(HEPACAM):c.851A>G (p.Gln284Arg)
|
rs77759828
|
0.00225
|
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp)
|
rs145529594
|
0.00224
|
NM_006459.4(ERLIN1):c.369C>T (p.His123=)
|
rs150796906
|
0.00224
|
NM_001110792.2(MECP2):c.413+95G>A
|
rs267608460
|
0.00223
|
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=)
|
rs200998860
|
0.00223
|
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00223
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00223
|
NM_007055.4(POLR3A):c.621G>A (p.Val207=)
|
rs149192341
|
0.00223
|
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=)
|
rs35305747
|
0.00223
|
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)
|
rs60445853
|
0.00223
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791
|
0.00223
|
NM_000742.4(CHRNA2):c.-45C>A
|
rs12114756
|
0.00222
|
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=)
|
rs113168860
|
0.00222
|
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)
|
rs143956614
|
0.00222
|
NM_004385.5(VCAN):c.2159T>C (p.Val720Ala)
|
rs76418670
|
0.00222
|
NM_004565.3(PEX14):c.170-13C>T
|
rs182967518
|
0.00222
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
NM_014795.4(ZEB2):c.2887-4G>A
|
rs147972125
|
0.00222
|
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)
|
rs150761638
|
0.00221
|
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys)
|
rs573483617
|
0.00221
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_001112741.2(KCNC1):c.933C>T (p.Arg311=)
|
rs76882721
|
0.00220
|
NM_001205293.3(CACNA1E):c.5853T>C (p.Cys1951=)
|
rs374978888
|
0.00220
|
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile)
|
rs62621067
|
0.00220
|
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=)
|
rs76327447
|
0.00220
|
NM_021098.3(CACNA1H):c.2145C>T (p.Ser715=)
|
rs58212659
|
0.00220
|
NM_022168.4(IFIH1):c.2899-4C>T
|
rs114541610
|
0.00220
|
NM_024306.5(FA2H):c.847G>A (p.Val283Ile)
|
rs138244546
|
0.00220
|
NM_025136.4(OPA3):c.*540G>T
|
rs149360920
|
0.00220
|
NM_025137.4(SPG11):c.4001+9G>T
|
rs141177255
|
0.00220
|
NM_030930.4(UNC93B1):c.97-8G>T
|
rs539458551
|
0.00220
|
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=)
|
rs147369439
|
0.00220
|
NM_145725.3(TRAF3):c.1689G>A (p.Ser563=)
|
rs148195281
|
0.00220
|
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)
|
rs117067974
|
0.00220
|
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
NM_001958.5(EEF1A2):c.237G>A (p.Lys79=)
|
rs61737389
|
0.00219
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_001205293.3(CACNA1E):c.5679+10A>C
|
rs77123326
|
0.00218
|
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
|
rs181347577
|
0.00218
|
NM_001330574.2(ZNF711):c.*122G>T
|
rs755444976
|
0.00218
|
NM_001371279.1(REEP1):c.*2784G>A
|
rs567893414
|
0.00218
|
NM_003070.5(SMARCA2):c.*181C>T
|
rs180701505
|
0.00218
|
NM_005045.4(RELN):c.9321C>T (p.Leu3107=)
|
rs150387973
|
0.00218
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
NM_001165963.4(SCN1A):c.4002+2261A>C
|
rs539758485
|
0.00217
|
NM_001371279.1(REEP1):c.*1398G>A
|
rs577908626
|
0.00217
|
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr)
|
rs73491901
|
0.00217
|
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=)
|
rs73491896
|
0.00217
|
NM_018834.6(MATR3):c.*1394G>A
|
rs572983701
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_000925.4(PDHB):c.132T>C (p.Asp44=)
|
rs11542399
|
0.00216
|
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr)
|
rs151241025
|
0.00216
|
NM_005120.3(MED12):c.1386G>T (p.Val462=)
|
rs186153976
|
0.00216
|
NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=)
|
rs145707539
|
0.00216
|
NM_144599.5(NIPA1):c.*3480C>T
|
rs112696483
|
0.00216
|
NM_152296.5(ATP1A3):c.1944-20G>T
|
rs200665663
|
0.00216
|
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)
|
rs188353745
|
0.00215
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)
|
rs115834242
|
0.00215
|
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=)
|
rs139061654
|
0.00215
|
NM_006070.6(TFG):c.415+16A>G
|
rs201290760
|
0.00215
|
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=)
|
rs141112920
|
0.00215
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
NM_001166114.2(PNPLA6):c.2937-6C>T
|
rs200932494
|
0.00214
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_002137.4(HNRNPA2B1):c.288T>C (p.His96=)
|
rs142061533
|
0.00214
|
NM_003730.6(RNASET2):c.214A>G (p.Ser72Gly)
|
rs115956642
|
0.00214
|
NM_015192.4(PLCB1):c.2930+20T>G
|
rs45533233
|
0.00214
|
NM_015915.5(ATL1):c.*392C>A
|
rs138209522
|
0.00214
|
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile)
|
rs140562355
|
0.00214
|
NM_000096.4(CP):c.993T>C (p.Pro331=)
|
rs17847025
|
0.00213
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_000311.5(PRNP):c.372C>G (p.Gly124=)
|
rs201423990
|
0.00213
|
NM_000414.4(HSD17B4):c.715-13C>T
|
rs185869017
|
0.00213
|
NM_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
NM_001044385.3(TMEM237):c.554-15G>A
|
rs144051344
|
0.00213
|
NM_001127222.2(CACNA1A):c.1345+7C>T
|
rs192536793
|
0.00213
|
NM_001377265.1(MAPT):c.2091+29G>A
|
rs63751443
|
0.00213
|
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)
|
rs143093165
|
0.00213
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556
|
0.00213
|
NM_004519.4(KCNQ3):c.*7722T>A
|
rs138128512
|
0.00213
|
NM_014946.4(SPAST):c.1493+18G>T
|
rs189961829
|
0.00213
|
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=)
|
rs61755436
|
0.00213
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu)
|
rs144257406
|
0.00213
|
NM_001257180.2(SLC20A2):c.1134G>T (p.Arg378=)
|
rs114636687
|
0.00212
|
NM_005045.4(RELN):c.1442-8T>C
|
rs181761096
|
0.00212
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=)
|
rs143969641
|
0.00212
|
NM_130837.3(OPA1):c.321G>A (p.Ser107=)
|
rs117888848
|
0.00212
|
NM_152564.5(VPS13B):c.4746-14C>T
|
rs112780006
|
0.00212
|
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn)
|
rs55858252
|
0.00211
|
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)
|
rs77570029
|
0.00211
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
NM_001909.5(CTSD):c.951C>T (p.Ala317=)
|
rs78306946
|
0.00211
|
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys)
|
rs142862074
|
0.00211
|
NM_130837.3(OPA1):c.*376A>G
|
rs142349183
|
0.00211
|
NM_000153.4(GALC):c.-318T>C
|
rs556647825
|
0.00210
|
NM_001044385.3(TMEM237):c.396-14C>T
|
rs74411816
|
0.00210
|
NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln)
|
rs138816265
|
0.00210
|
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)
|
rs150844616
|
0.00210
|
NM_001846.4(COL4A2):c.3634+12C>T
|
rs148069014
|
0.00210
|
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)
|
rs113958280
|
0.00210
|
NM_005866.4(SIGMAR1):c.240G>A (p.Gln80=)
|
rs10972178
|
0.00210
|
NM_013275.6(ANKRD11):c.4317G>A (p.Lys1439=)
|
rs61743619
|
0.00210
|
NM_014946.4(SPAST):c.865C>T (p.His289Tyr)
|
rs74688377
|
0.00210
|
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=)
|
rs144271949
|
0.00210
|
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=)
|
rs115913738
|
0.00210
|
NM_021625.5(TRPV4):c.*365C>T
|
rs184413363
|
0.00210
|
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)
|
rs140783695
|
0.00209
|
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)
|
rs149102738
|
0.00209
|
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=)
|
rs112474841
|
0.00209
|
NM_002541.4(OGDH):c.936-7G>A
|
rs116644435
|
0.00209
|
NM_004082.5(DCTN1):c.2761-18C>T
|
rs549475401
|
0.00209
|
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp)
|
rs57105517
|
0.00209
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_000284.4(PDHA1):c.*857A>G
|
rs182836908
|
0.00208
|
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)
|
rs75221202
|
0.00208
|
NM_005359.6(SMAD4):c.*2989A>G
|
rs139526377
|
0.00208
|
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)
|
rs541251697
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
|
rs3219160
|
0.00208
|
NM_020988.3(GNAO1):c.654C>T (p.Asp218=)
|
rs139322464
|
0.00208
|
NM_025219.3(DNAJC5):c.*1183G>T
|
rs562364964
|
0.00208
|
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)
|
rs148369169
|
0.00207
|
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)
|
rs144358567
|
0.00207
|
NM_000021.4(PSEN1):c.*449T>C
|
rs112911413
|
0.00206
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=)
|
rs141886903
|
0.00206
|
NM_001242896.3(DEPDC5):c.2801+8A>G
|
rs370009456
|
0.00206
|
NM_002857.4(PEX19):c.261C>T (p.Phe87=)
|
rs146644725
|
0.00206
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val)
|
rs141982003
|
0.00206
|
NM_006516.4(SLC2A1):c.*1588G>A
|
rs189700252
|
0.00206
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)
|
rs7271776
|
0.00206
|
NM_015474.4(SAMHD1):c.348+18T>G
|
rs181987130
|
0.00206
|
NM_001079872.2(CUL4B):c.1257-19T>C
|
rs201629851
|
0.00205
|
NM_003072.5(SMARCA4):c.*1G>T
|
rs76118382
|
0.00205
|
NM_004035.7(ACOX1):c.804G>A (p.Pro268=)
|
rs114057990
|
0.00205
|
NM_006030.4(CACNA2D2):c.271G>A (p.Val91Ile)
|
rs150190044
|
0.00205
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
NM_015100.4(POGZ):c.860-5C>T
|
rs144435581
|
0.00205
|
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val)
|
rs146141075
|
0.00205
|
NM_152743.4(BRAT1):c.1659C>T (p.Leu553=)
|
rs61746940
|
0.00205
|
NM_173728.4(ARHGEF15):c.2494T>C (p.Ser832Pro)
|
rs115597604
|
0.00205
|
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=)
|
rs147176678
|
0.00205
|
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile)
|
rs150242281
|
0.00204
|
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val)
|
rs144456198
|
0.00204
|
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val)
|
rs148677577
|
0.00204
|
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)
|
rs139982267
|
0.00203
|
NM_000284.4(PDHA1):c.*864G>A
|
rs192450087
|
0.00203
|
NM_005051.3(QARS1):c.673C>T (p.Arg225Trp)
|
rs142517070
|
0.00203
|
NM_005629.4(SLC6A8):c.1496-18C>T
|
rs201867256
|
0.00203
|
NM_006946.4(SPTBN2):c.6896+11G>A
|
rs141969559
|
0.00203
|
NM_015346.4(ZFYVE26):c.453C>T (p.Ser151=)
|
rs75391113
|
0.00203
|
NM_016373.4(WWOX):c.1197G>A (p.Ala399=)
|
rs376935572
|
0.00203
|
NM_018325.5(C9orf72):c.*1058G>T
|
rs41272887
|
0.00203
|
NM_173728.4(ARHGEF15):c.2504C>A (p.Thr835Asn)
|
rs114610832
|
0.00203
|
NM_173728.4(ARHGEF15):c.960G>A (p.Gln320=)
|
rs112237413
|
0.00203
|
NM_182919.4(TICAM1):c.712T>C (p.Leu238=)
|
rs150390826
|
0.00203
|
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=)
|
rs150392453
|
0.00202
|
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln)
|
rs140565291
|
0.00202
|
NM_001958.5(EEF1A2):c.1335C>T (p.Ser445=)
|
rs372257864
|
0.00202
|
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=)
|
rs145911280
|
0.00202
|
NM_005154.5(USP8):c.583A>G (p.Lys195Glu)
|
rs147742292
|
0.00202
|
NM_178138.6(LHX3):c.*185T>A
|
rs144976921
|
0.00202
|
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=)
|
rs28565126
|
0.00201
|
NM_001385875.1(ZFYVE27):c.*894G>C
|
rs534547830
|
0.00201
|
NM_005149.3(TBX19):c.-21G>A
|
rs187423054
|
0.00201
|
NM_015346.4(ZFYVE26):c.1933A>G (p.Met645Val)
|
rs77129887
|
0.00201
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_000368.5(TSC1):c.*2109C>T
|
rs73552808
|
0.00200
|
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=)
|
rs75593857
|
0.00200
|
NM_001110792.2(MECP2):c.*544G>A
|
rs183349022
|
0.00200
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
NM_001134407.3(GRIN2A):c.*7425T>A
|
rs184642158
|
0.00200
|
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=)
|
rs149371169
|
0.00200
|
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)
|
rs200653339
|
0.00200
|
NM_003072.5(SMARCA4):c.4768+10G>A
|
rs201665695
|
0.00200
|
NM_013247.5(HTRA2):c.215T>C (p.Leu72Pro)
|
rs150047108
|
0.00200
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_012073.5(CCT5):c.331+14A>T
|
rs201171003
|
0.00199
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_000153.4(GALC):c.195+19G>A
|
rs189853941
|
0.00198
|
NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr)
|
rs150475750
|
0.00198
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
NM_004984.4(KIF5A):c.*425C>T
|
rs180971201
|
0.00198
|
NM_005045.4(RELN):c.2303+16G>T
|
rs188276472
|
0.00198
|
NM_017882.3(CLN6):c.840G>A (p.Leu280=)
|
rs148949069
|
0.00198
|
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu)
|
rs142058362
|
0.00198
|
NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln)
|
rs138077616
|
0.00198
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu)
|
rs150832847
|
0.00197
|
NM_173728.4(ARHGEF15):c.1638G>A (p.Arg546=)
|
rs115756996
|
0.00197
|
NM_000153.4(GALC):c.1632T>C (p.Asp544=)
|
rs9672064
|
0.00196
|
NM_001110792.2(MECP2):c.*861T>G
|
rs187614438
|
0.00196
|
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)
|
rs149013279
|
0.00196
|
NM_002361.4(MAG):c.1104G>A (p.Thr368=)
|
rs140483946
|
0.00196
|
NM_004960.4(FUS):c.273C>T (p.Tyr91=)
|
rs73530286
|
0.00196
|
NM_006015.6(ARID1A):c.318C>T (p.Asn106=)
|
rs551186176
|
0.00196
|
NM_016032.4(ZDHHC9):c.777+16C>T
|
rs193236859
|
0.00196
|
NM_021072.4(HCN1):c.1783+4C>T
|
rs188586020
|
0.00196
|
NM_001040142.2(SCN2A):c.*1056T>C
|
rs184628337
|
0.00195
|
NM_001329943.3(KIAA0586):c.4496-16C>T
|
rs111487478
|
0.00195
|
NM_001377265.1(MAPT):c.1732+2364C>T
|
rs187760483
|
0.00195
|
NM_012073.5(CCT5):c.1350G>A (p.Ala450=)
|
rs142127415
|
0.00195
|
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=)
|
rs140048110
|
0.00195
|
NM_000044.6(AR):c.1139C>G (p.Pro380Arg)
|
rs200510049
|
0.00194
|
NM_000368.5(TSC1):c.*1127C>T
|
rs139119563
|
0.00194
|
NM_000815.5(GABRD):c.1002C>T (p.Asn334=)
|
rs41315330
|
0.00194
|
NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=)
|
rs2270912
|
0.00194
|
NM_001165963.4(SCN1A):c.3550+11G>T
|
rs202142409
|
0.00194
|
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)
|
rs143815273
|
0.00194
|
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=)
|
rs140210015
|
0.00194
|
NM_006267.5(RANBP2):c.7670A>G (p.Asn2557Ser)
|
rs145613015
|
0.00194
|
NM_014795.4(ZEB2):c.807+3G>C
|
rs144925893
|
0.00194
|
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=)
|
rs113454700
|
0.00194
|
NM_182961.4(SYNE1):c.23461-6A>C
|
rs145098375
|
0.00194
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_001242896.3(DEPDC5):c.4519+13G>A
|
rs181976978
|
0.00193
|
NM_002541.4(OGDH):c.1188C>T (p.Gly396=)
|
rs147519663
|
0.00193
|
NM_004960.3(FUS):c.*687G>A
|
rs549602004
|
0.00193
|
NM_006267.5(RANBP2):c.1536G>A (p.Pro512=)
|
rs370400502
|
0.00193
|
NM_006772.3(SYNGAP1):c.3582+7T>C
|
rs370618729
|
0.00193
|
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr)
|
rs58394372
|
0.00193
|
NM_006950.3(SYN1):c.528-19C>T
|
rs190935498
|
0.00192
|
NM_014946.4(SPAST):c.484G>A (p.Val162Ile)
|
rs141944844
|
0.00192
|
NM_022168.4(IFIH1):c.427C>T (p.Leu143=)
|
rs143902922
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_001160148.2(DDHD1):c.1503+10A>T
|
rs180742508
|
0.00191
|
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)
|
rs112176097
|
0.00191
|
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)
|
rs79720149
|
0.00191
|
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=)
|
rs61761958
|
0.00191
|
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys)
|
rs141304687
|
0.00191
|
NM_005670.4(EPM2A):c.719-4G>A
|
rs145030227
|
0.00191
|
NM_015087.5(SPART):c.1130A>T (p.Lys377Met)
|
rs148672324
|
0.00191
|
NM_021072.4(HCN1):c.2172C>T (p.Ala724=)
|
rs56217199
|
0.00191
|
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)
|
rs185933892
|
0.00191
|
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=)
|
rs138264334
|
0.00191
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=)
|
rs75057869
|
0.00190
|
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)
|
rs45567240
|
0.00190
|
NM_002739.5(PRKCG):c.*670T>C
|
rs186000310
|
0.00190
|
NM_005045.4(RELN):c.8120-9T>C
|
rs74952625
|
0.00190
|
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=)
|
rs146538069
|
0.00190
|
NM_000287.4(PEX6):c.882+15_882+16del
|
rs555409430
|
0.00189
|
NM_000414.4(HSD17B4):c.281-7A>G
|
rs35201279
|
0.00189
|
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)
|
rs61749711
|
0.00189
|
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=)
|
rs114624650
|
0.00189
|
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=)
|
rs61736269
|
0.00189
|
NM_004408.4(DNM1):c.386-14G>A
|
rs141695422
|
0.00189
|
NM_144599.5(NIPA1):c.*2780G>T
|
rs183353690
|
0.00189
|
NM_173728.4(ARHGEF15):c.2270-15C>T
|
rs79687084
|
0.00189
|
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)
|
rs139054881
|
0.00188
|
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)
|
rs150378053
|
0.00188
|
NM_002739.5(PRKCG):c.1941C>T (p.Phe647=)
|
rs2242243
|
0.00188
|
NM_004738.5(VAPB):c.*1773G>A
|
rs75999456
|
0.00188
|
NM_015474.3(SAMHD1):c.-110T>C
|
rs28372906
|
0.00188
|
NM_139318.5(KCNH5):c.2315A>G (p.Glu772Gly)
|
rs79913182
|
0.00188
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_173354.5(SIK1):c.1470C>T (p.Val490=)
|
rs144693254
|
0.00188
|
NM_000284.4(PDHA1):c.-98C>T
|
rs192773464
|
0.00187
|
NM_000368.5(TSC1):c.106+15A>G
|
rs80258442
|
0.00187
|
NM_001130438.3(SPTAN1):c.5358-16C>T
|
rs143969764
|
0.00187
|
NM_001134407.3(GRIN2A):c.1122+16T>A
|
rs149886469
|
0.00187
|
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg)
|
rs151288786
|
0.00187
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_003265.3(TLR3):c.727T>C (p.Leu243=)
|
rs75290011
|
0.00187
|
NM_006859.4(LIAS):c.849C>T (p.Gly283=)
|
rs146030265
|
0.00187
|
NM_021098.3(CACNA1H):c.1735G>A (p.Asp579Asn)
|
rs200804807
|
0.00187
|
NM_000096.4(CP):c.2793A>G (p.Leu931=)
|
rs34987997
|
0.00186
|
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala)
|
rs145857775
|
0.00186
|
NM_004408.4(DNM1):c.1764C>T (p.Leu588=)
|
rs111534551
|
0.00186
|
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=)
|
rs149526010
|
0.00186
|
NM_020708.5(SLC12A5):c.2805T>C (p.Asp935=)
|
rs151293924
|
0.00186
|
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=)
|
rs143733790
|
0.00186
|
NM_001003787.4(STRADA):c.349-18C>T
|
rs138109552
|
0.00185
|
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=)
|
rs372582842
|
0.00185
|
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)
|
rs138328594
|
0.00185
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_004519.4(KCNQ3):c.*3303C>A
|
rs571392133
|
0.00185
|
NM_005045.4(RELN):c.1377G>A (p.Arg459=)
|
rs73712207
|
0.00185
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=)
|
rs147726863
|
0.00185
|
NM_018718.3(CEP41):c.*655C>T
|
rs141441037
|
0.00185
|
NM_018718.3(CEP41):c.575-12T>C
|
rs186638258
|
0.00185
|
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=)
|
rs141521745
|
0.00185
|
NM_021098.3(CACNA1H):c.4778-14C>T
|
rs374784679
|
0.00185
|
NM_025136.3(OPA3):c.-113T>C
|
rs139731330
|
0.00185
|
NM_144599.5(NIPA1):c.*5071C>T
|
rs141920126
|
0.00185
|
NM_000146.4(FTL):c.522C>T (p.His174=)
|
rs73046709
|
0.00184
|
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
|
rs193056942
|
0.00184
|
NM_004519.4(KCNQ3):c.*4043C>T
|
rs117527951
|
0.00184
|
NM_020919.4(ALS2):c.3309T>C (p.His1103=)
|
rs201920363
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_025000.4(DCAF17):c.127-15C>A
|
rs146556466
|
0.00184
|
NM_025136.4(OPA3):c.*422C>T
|
rs116977551
|
0.00184
|
NM_032737.4(LMNB2):c.1822-17T>C
|
rs201909206
|
0.00184
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)
|
rs143867796
|
0.00183
|
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)
|
rs141389465
|
0.00183
|
NM_004738.5(VAPB):c.*2671A>G
|
rs115191022
|
0.00183
|
NM_004738.5(VAPB):c.*3968C>T
|
rs149967447
|
0.00183
|
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742
|
0.00183
|
NM_014846.4(WASHC5):c.*218T>C
|
rs151072408
|
0.00183
|
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=)
|
rs150772386
|
0.00183
|
NM_030930.4(UNC93B1):c.239-6C>T
|
rs182093266
|
0.00183
|
NM_031448.6(C19orf12):c.*2778C>T
|
rs80024917
|
0.00183
|
NM_032581.4(HYCC1):c.636T>C (p.Val212=)
|
rs139293438
|
0.00183
|
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)
|
rs368850131
|
0.00183
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_001378969.1(KCND3):c.627G>C (p.Thr209=)
|
rs149299911
|
0.00182
|
NM_004385.5(VCAN):c.7551C>T (p.Asp2517=)
|
rs77870162
|
0.00182
|
NM_004519.4(KCNQ3):c.*2271T>A
|
rs149825293
|
0.00182
|
NM_005076.5(CNTN2):c.105C>T (p.Phe35=)
|
rs147074435
|
0.00182
|
NM_006796.3(AFG3L2):c.1664-9T>C
|
rs200476229
|
0.00182
|
NM_001165963.4(SCN1A):c.3705+12T>G
|
rs147032678
|
0.00181
|
NM_003659.4(AGPS):c.1233+5A>G
|
rs370777451
|
0.00181
|
NM_005051.3(QARS1):c.163C>T (p.Leu55=)
|
rs58012546
|
0.00181
|
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)
|
rs3739206
|
0.00181
|
NM_014846.4(WASHC5):c.2771-7T>C
|
rs142685897
|
0.00181
|
NM_015192.4(PLCB1):c.2711-18C>T
|
rs186797959
|
0.00181
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00180
|
NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=)
|
rs140091591
|
0.00180
|
NM_001130438.3(SPTAN1):c.3720-5T>G
|
rs200543425
|
0.00180
|
NM_001134407.3(GRIN2A):c.*6545C>A
|
rs59394706
|
0.00180
|
NM_001271803.2(REEP2):c.565+15C>T
|
rs200034716
|
0.00180
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_001386393.1(PANK2):c.960T>C (p.Thr320=)
|
rs149583615
|
0.00180
|
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile)
|
rs41275090
|
0.00180
|
NM_003265.3(TLR3):c.612G>A (p.Leu204=)
|
rs5743311
|
0.00180
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_001127178.3(PIGG):c.1581C>T (p.Thr527=)
|
rs143989093
|
0.00179
|
NM_001385875.1(ZFYVE27):c.79C>G (p.Pro27Ala)
|
rs34979921
|
0.00179
|
NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr)
|
rs202017641
|
0.00179
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met)
|
rs143763184
|
0.00179
|
NM_004565.3(PEX14):c.825G>A (p.Ser275=)
|
rs143412169
|
0.00179
|
NM_004960.4(FUS):c.675C>T (p.Gly225=)
|
rs140003720
|
0.00179
|
NM_144599.5(NIPA1):c.*4964G>A
|
rs146129067
|
0.00179
|
NM_173354.5(SIK1):c.1463-18G>A
|
rs370691454
|
0.00179
|
NM_000287.4(PEX6):c.2436G>A (p.Arg812=)
|
rs61732156
|
0.00178
|
NM_000318.3(PEX2):c.477G>A (p.Gln159=)
|
rs35218706
|
0.00178
|
NM_001256864.2(DNAJC6):c.996-9T>C
|
rs187965193
|
0.00178
|
NM_001330574.2(ZNF711):c.*1260G>A
|
rs73234669
|
0.00178
|
NM_001378452.1(ITPR1):c.*1196T>C
|
rs565045968
|
0.00178
|
NM_002693.3(POLG):c.1950-43A>G
|
rs74596434
|
0.00178
|
NM_004722.4(AP4M1):c.525G>A (p.Leu175=)
|
rs113020957
|
0.00178
|
NM_005076.5(CNTN2):c.1896C>T (p.Phe632=)
|
rs145918837
|
0.00178
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser)
|
rs145132837
|
0.00178
|
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr)
|
rs138044459
|
0.00178
|
NM_032193.4(RNASEH2C):c.468+13G>A
|
rs182000627
|
0.00178
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_001371928.1(AHDC1):c.1510G>A (p.Val504Met)
|
rs143346525
|
0.00177
|
NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys)
|
rs150922871
|
0.00177
|
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495
|
0.00177
|
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=)
|
rs148232368
|
0.00177
|
NM_139318.5(KCNH5):c.819C>T (p.Pro273=)
|
rs115017019
|
0.00177
|
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=)
|
rs146199765
|
0.00177
|
NM_152309.3(PIK3AP1):c.767G>A (p.Cys256Tyr)
|
rs141221035
|
0.00177
|
NM_000484.4(APP):c.826A>T (p.Thr276Ser)
|
rs202198008
|
0.00176
|
NM_001085411.3(NADK2):c.1013-17C>T
|
rs186051640
|
0.00176
|
NM_001161352.2(KCNMA1):c.2484+7G>A
|
rs13377017
|
0.00176
|
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=)
|
rs142496099
|
0.00176
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_032581.4(HYCC1):c.991+11C>T
|
rs141187440
|
0.00176
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=)
|
rs140279996
|
0.00175
|
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)
|
rs147132904
|
0.00175
|
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=)
|
rs78041051
|
0.00175
|
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)
|
rs186881889
|
0.00175
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_001846.4(COL4A2):c.576C>T (p.Val192=)
|
rs190117538
|
0.00175
|
NM_005076.5(CNTN2):c.2545-12C>T
|
rs201687043
|
0.00175
|
NM_005359.6(SMAD4):c.*4748C>T
|
rs375580807
|
0.00175
|
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys)
|
rs139406455
|
0.00175
|
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=)
|
rs148831568
|
0.00174
|
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=)
|
rs370950694
|
0.00174
|
NM_001271.4(CHD2):c.4592+18G>A
|
rs116022337
|
0.00174
|
NM_001365999.1(SZT2):c.7831C>T (p.Leu2611=)
|
rs140744209
|
0.00174
|
NM_005045.4(RELN):c.3008+11A>G
|
rs186983114
|
0.00174
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_000726.5(CACNB4):c.324C>T (p.Asp108=)
|
rs147647355
|
0.00173
|
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg)
|
rs202084411
|
0.00173
|
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=)
|
rs142822908
|
0.00173
|
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=)
|
rs201008264
|
0.00173
|
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu)
|
rs113831637
|
0.00173
|
NM_052874.5(STX1B):c.609G>A (p.Lys203=)
|
rs61733980
|
0.00173
|
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=)
|
rs138628147
|
0.00173
|
NM_000370.3(TTPA):c.24C>G (p.Pro8=)
|
rs140010311
|
0.00172
|
NM_001199753.2(CPT1C):c.1401C>T (p.Ser467=)
|
rs144722270
|
0.00172
|
NM_001271.4(CHD2):c.2730A>T (p.Val910=)
|
rs77895180
|
0.00172
|
NM_001429.4(EP300):c.5259C>T (p.Cys1753=)
|
rs148040990
|
0.00172
|
NM_002361.4(MAG):c.47-17C>T
|
rs201985530
|
0.00172
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=)
|
rs200405805
|
0.00172
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_000044.6(AR):c.636G>A (p.Arg212=)
|
rs150226204
|
0.00171
|
NM_001271803.2(REEP2):c.78C>T (p.Ala26=)
|
rs146777982
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_004519.4(KCNQ3):c.*1937A>G
|
rs144262306
|
0.00171
|
NM_005045.4(RELN):c.246C>G (p.Thr82=)
|
rs113242008
|
0.00171
|
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=)
|
rs145861898
|
0.00171
|
NM_021098.3(CACNA1H):c.1212+18T>C
|
rs11863387
|
0.00171
|
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=)
|
rs57181695
|
0.00171
|
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)
|
rs375589233
|
0.00171
|
NM_021625.5(TRPV4):c.*230G>A
|
rs181542514
|
0.00171
|
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)
|
rs141835897
|
0.00171
|
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile)
|
rs112829587
|
0.00171
|
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)
|
rs73619386
|
0.00171
|
NM_000284.4(PDHA1):c.798A>G (p.Thr266=)
|
rs35752213
|
0.00170
|
NM_001127178.3(PIGG):c.1114+15C>T
|
rs200262444
|
0.00170
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00170
|
NM_004738.5(VAPB):c.510G>A (p.Met170Ile)
|
rs143144050
|
0.00170
|
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys)
|
rs505760
|
0.00170
|
NM_021098.3(CACNA1H):c.6934A>G (p.Met2312Val)
|
rs58535913
|
0.00170
|
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)
|
rs143538947
|
0.00170
|
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile)
|
rs111353525
|
0.00170
|
NM_005051.3(QARS1):c.1426G>A (p.Val476Ile)
|
rs144092780
|
0.00169
|
NM_005359.6(SMAD4):c.*2488T>A
|
rs148190627
|
0.00169
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)
|
rs58173258
|
0.00169
|
NM_000475.5(NR0B1):c.870C>T (p.Cys290=)
|
rs137987391
|
0.00168
|
NM_000702.4(ATP1A2):c.2115+14C>T
|
rs200854586
|
0.00168
|
NM_000817.3(GAD1):c.1473T>C (p.Tyr491=)
|
rs146199288
|
0.00168
|
NM_001368809.2(AMPD2):c.1984-15C>G
|
rs368592941
|
0.00168
|
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)
|
rs61751570
|
0.00168
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
NM_003690.5(PRKRA):c.65+16G>A
|
rs565738732
|
0.00168
|
NM_004722.4(AP4M1):c.861C>T (p.Ser287=)
|
rs142325884
|
0.00168
|
NM_006015.6(ARID1A):c.135C>T (p.Ala45=)
|
rs892415319
|
0.00168
|
NM_012193.4(FZD4):c.-262C>T
|
rs568903306
|
0.00168
|
NM_152309.3(PIK3AP1):c.2076A>G (p.Gly692=)
|
rs141067860
|
0.00168
|
NM_000520.6(HEXA):c.1146+8G>A
|
rs201453018
|
0.00167
|
NM_001242896.3(DEPDC5):c.814G>A (p.Val272Ile)
|
rs187334123
|
0.00167
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
NM_003560.4(PLA2G6):c.990C>T (p.Phe330=)
|
rs146241431
|
0.00167
|
NM_005051.3(QARS1):c.117+17C>T
|
rs202012811
|
0.00167
|
NM_000702.4(ATP1A2):c.*1355C>T
|
rs190096000
|
0.00166
|
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)
|
rs145662546
|
0.00166
|
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro)
|
rs142841538
|
0.00166
|
NM_001172509.2(SATB2):c.1818G>T (p.Pro606=)
|
rs141436870
|
0.00166
|
NM_002609.4(PDGFRB):c.1872T>C (p.His624=)
|
rs141371542
|
0.00166
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_004519.4(KCNQ3):c.*3897C>G
|
rs191691741
|
0.00166
|
NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly)
|
rs149276487
|
0.00166
|
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=)
|
rs145415996
|
0.00166
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
NM_000744.7(CHRNA4):c.1662G>A (p.Pro554=)
|
rs121912284
|
0.00165
|
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=)
|
rs138086853
|
0.00165
|
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu)
|
rs147173555
|
0.00165
|
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=)
|
rs148209667
|
0.00165
|
NM_020631.6(PLEKHG5):c.592-14C>T
|
rs554879611
|
0.00165
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
NM_198994.3(TGM6):c.2052G>A (p.Val684=)
|
rs149369357
|
0.00165
|
NM_000033.4(ABCD1):c.1393+18C>G
|
rs188551185
|
0.00164
|
NM_000520.6(HEXA):c.254-33G>A
|
rs186468379
|
0.00164
|
NM_001350451.2(RBFOX3):c.623-4G>T
|
rs547643968
|
0.00164
|
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=)
|
rs111603166
|
0.00164
|
NM_001386393.1(PANK2):c.489G>A (p.Leu163=)
|
rs71647837
|
0.00164
|
NM_004385.5(VCAN):c.*910A>C
|
rs201146484
|
0.00164
|
NM_015046.7(SETX):c.*2506T>C
|
rs73545065
|
0.00164
|
NM_015046.7(SETX):c.*905A>G
|
rs58327306
|
0.00164
|
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met)
|
rs59052554
|
0.00164
|
NM_021098.3(CACNA1H):c.4777+16C>T
|
rs58216775
|
0.00164
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=)
|
rs147235870
|
0.00163
|
NM_001199107.2(TBC1D24):c.1142+17C>A
|
rs199499346
|
0.00163
|
NM_001482.3(GATM):c.669T>C (p.Tyr223=)
|
rs151231277
|
0.00163
|
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)
|
rs56101423
|
0.00163
|
NM_004738.5(VAPB):c.*2320T>A
|
rs181028077
|
0.00163
|
NM_004738.5(VAPB):c.*4072C>T
|
rs190652187
|
0.00163
|
NM_006397.3(RNASEH2A):c.339G>T (p.Leu113=)
|
rs145176499
|
0.00163
|
NM_006493.4(CLN5):c.705G>A (p.Val235=)
|
rs116531784
|
0.00163
|
NM_006516.4(SLC2A1):c.*626G>A
|
rs6413525
|
0.00163
|
NM_007327.4(GRIN1):c.525G>A (p.Ala175=)
|
rs77812749
|
0.00163
|
NM_022089.4(ATP13A2):c.3406-14C>T
|
rs139088170
|
0.00163
|
NM_031448.6(C19orf12):c.*2893G>A
|
rs571030466
|
0.00163
|
NM_153252.5(BRWD3):c.*3447G>A
|
rs767696195
|
0.00163
|
NM_000368.5(TSC1):c.*2733A>G
|
rs73552805
|
0.00162
|
NM_003334.4(UBA1):c.2004-13C>T
|
rs201794720
|
0.00162
|
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=)
|
rs190973308
|
0.00162
|
NM_007217.4(PDCD10):c.-438G>C
|
rs546722173
|
0.00162
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_022168.4(IFIH1):c.1723A>G (p.Thr575Ala)
|
rs138057665
|
0.00162
|
NM_153252.5(BRWD3):c.*4809T>G
|
rs41311569
|
0.00162
|
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=)
|
rs140191388
|
0.00161
|
NM_001271803.2(REEP2):c.605C>T (p.Pro202Leu)
|
rs111927109
|
0.00161
|
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser)
|
rs200735885
|
0.00161
|
NM_014495.4(ANGPTL3):c.228C>G (p.Asn76Lys)
|
rs149086653
|
0.00161
|
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=)
|
rs147232928
|
0.00161
|
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)
|
rs11556797
|
0.00161
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)
|
rs184389316
|
0.00160
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
NM_001931.5(DLAT):c.570A>G (p.Gln190=)
|
rs143107853
|
0.00160
|
NM_004385.5(VCAN):c.7743T>C (p.Asp2581=)
|
rs75771891
|
0.00160
|
NM_000466.3(PEX1):c.1588-20A>G
|
rs201298666
|
0.00159
|
NM_001127178.3(PIGG):c.1114+9A>G
|
rs150974506
|
0.00159
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=)
|
rs143980709
|
0.00159
|
NM_001165963.4(SCN1A):c.4002+2088C>T
|
rs138488822
|
0.00159
|
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)
|
rs35337955
|
0.00159
|
NM_001374828.1(ARID1B):c.3714+11G>A
|
rs368322992
|
0.00159
|
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)
|
rs148974733
|
0.00159
|
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=)
|
rs35450949
|
0.00159
|
NM_015046.7(SETX):c.5781+10G>A
|
rs537414669
|
0.00159
|
NM_018206.6(VPS35):c.2241C>T (p.Ile747=)
|
rs140543776
|
0.00159
|
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)
|
rs200250181
|
0.00159
|
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)
|
rs61736590
|
0.00159
|
NM_032737.4(LMNB2):c.804C>T (p.Asp268=)
|
rs150969746
|
0.00159
|
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=)
|
rs61753093
|
0.00159
|
NM_153252.5(BRWD3):c.2044+13A>G
|
rs372899207
|
0.00159
|
NM_198578.4(LRRK2):c.*123A>C
|
rs73277568
|
0.00159
|
NM_000368.5(TSC1):c.*2874G>A
|
rs111832812
|
0.00158
|
NM_001429.4(EP300):c.678C>G (p.Gly226=)
|
rs147244947
|
0.00158
|
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=)
|
rs61761957
|
0.00158
|
NM_006015.6(ARID1A):c.1351-82C>T
|
rs41303627
|
0.00158
|
NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=)
|
rs61732221
|
0.00158
|
NM_025136.4(OPA3):c.537A>G (p.Lys179=)
|
rs140105522
|
0.00158
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=)
|
rs61752362
|
0.00157
|
NM_001127178.3(PIGG):c.902-16G>A
|
rs187291662
|
0.00157
|
NM_001205293.3(CACNA1E):c.3207C>T (p.Ser1069=)
|
rs200952541
|
0.00157
|
NM_001371279.1(REEP1):c.*663G>C
|
rs142894251
|
0.00157
|
NM_001371928.1(AHDC1):c.3240T>C (p.Ser1080=)
|
rs148001847
|
0.00157
|
NM_002693.3(POLG):c.2426+27G>A
|
rs72762657
|
0.00157
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu)
|
rs189548179
|
0.00157
|
NM_006950.3(SYN1):c.980+14C>T
|
rs376734047
|
0.00157
|
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=)
|
rs367592989
|
0.00156
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
NM_004519.4(KCNQ3):c.*2847T>C
|
rs138023368
|
0.00156
|
NM_005045.4(RELN):c.8275-19T>C
|
rs149567032
|
0.00156
|
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn)
|
rs142373563
|
0.00156
|
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)
|
rs140063111
|
0.00156
|
NM_015338.6(ASXL1):c.3384C>T (p.Asp1128=)
|
rs149359320
|
0.00156
|
NM_025136.4(OPA3):c.*2008C>T
|
rs144432336
|
0.00156
|
NM_025136.4(OPA3):c.*3360G>A
|
rs545764728
|
0.00156
|
NM_152415.3(VPS37A):c.125+8G>A
|
rs145945235
|
0.00156
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00155
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_001845.6(COL4A1):c.1000-5T>G
|
rs75711155
|
0.00155
|
NM_001846.4(COL4A2):c.3454+13G>A
|
rs200830236
|
0.00155
|
NM_002156.5(HSPD1):c.561T>C (p.Ser187=)
|
rs141357756
|
0.00155
|
NM_013254.4(TBK1):c.1110C>T (p.Phe370=)
|
rs143590388
|
0.00155
|
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val)
|
rs372632879
|
0.00155
|
NM_001003787.4(STRADA):c.135G>A (p.Ala45=)
|
rs56163554
|
0.00154
|
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=)
|
rs139799727
|
0.00154
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_001367561.1(DOCK7):c.2700C>T (p.Ser900=)
|
rs35648144
|
0.00154
|
NM_001377265.1(MAPT):c.117G>A (p.Thr39=)
|
rs63750529
|
0.00154
|
NM_007254.4(PNKP):c.636+7G>A
|
rs3739187
|
0.00154
|
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His)
|
rs201043388
|
0.00154
|
NM_173728.4(ARHGEF15):c.618C>T (p.Cys206=)
|
rs138521691
|
0.00154
|
NM_000744.7(CHRNA4):c.1758+16G>A
|
rs113109615
|
0.00153
|
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)
|
rs182505786
|
0.00153
|
NM_001130823.3(DNMT1):c.2117+13G>A
|
rs112660071
|
0.00153
|
NM_001134407.3(GRIN2A):c.*5720C>G
|
rs9922737
|
0.00153
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_001846.4(COL4A2):c.3346+7A>G
|
rs201020737
|
0.00153
|
NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg)
|
rs61760986
|
0.00153
|
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)
|
rs115992445
|
0.00153
|
NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe)
|
rs147431766
|
0.00153
|
NM_007327.4(GRIN1):c.1809G>C (p.Leu603=)
|
rs141249927
|
0.00153
|
NM_021098.3(CACNA1H):c.2790-20G>A
|
rs373286579
|
0.00153
|
NM_000533.5(PLP1):c.-31C>T
|
rs2233695
|
0.00152
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00152
|
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)
|
rs145304925
|
0.00152
|
NM_001044.5(SLC6A3):c.1839+9G>A
|
rs184515054
|
0.00152
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp)
|
rs201509886
|
0.00152
|
NM_013275.6(ANKRD11):c.6827C>T (p.Pro2276Leu)
|
rs573355746
|
0.00152
|
NM_024665.7(TBL1XR1):c.1123-14T>G
|
rs117037344
|
0.00152
|
NM_152309.3(PIK3AP1):c.2337G>A (p.Val779=)
|
rs145459703
|
0.00152
|
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)
|
rs45617636
|
0.00151
|
NM_001846.4(COL4A2):c.2484T>C (p.Pro828=)
|
rs181706751
|
0.00151
|
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr)
|
rs201105747
|
0.00151
|
NM_003042.4(SLC6A1):c.471+6T>C
|
rs142579600
|
0.00151
|
NM_007126.5(VCP):c.79A>G (p.Ile27Val)
|
rs140913250
|
0.00151
|
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=)
|
rs34084584
|
0.00151
|
NM_000021.4(PSEN1):c.321C>G (p.Thr107=)
|
rs139863395
|
0.00150
|
NM_000033.4(ABCD1):c.1634+12C>T
|
rs369538219
|
0.00150
|
NM_000096.4(CP):c.347C>A (p.Pro116His)
|
rs73866999
|
0.00150
|
NM_000533.5(PLP1):c.168A>G (p.Gln56=)
|
rs2233697
|
0.00150
|
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=)
|
rs143223159
|
0.00150
|
NM_001044.5(SLC6A3):c.1356C>T (p.Ile452=)
|
rs115529609
|
0.00150
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=)
|
rs139329447
|
0.00150
|
NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=)
|
rs138906273
|
0.00150
|
NM_001271.4(CHD2):c.2353-10A>G
|
rs190159225
|
0.00150
|
NM_001429.4(EP300):c.4311A>C (p.Ala1437=)
|
rs150941761
|
0.00150
|
NM_004519.4(KCNQ3):c.*5965T>C
|
rs537622929
|
0.00150
|
NM_012338.4(TSPAN12):c.*1139A>T
|
rs192303288
|
0.00150
|
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)
|
rs146205997
|
0.00150
|
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=)
|
rs72552033
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_152309.3(PIK3AP1):c.975A>G (p.Glu325=)
|
rs34642975
|
0.00150
|
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn)
|
rs147623238
|
0.00149
|
NM_001368809.2(AMPD2):c.1276-20A>G
|
rs140464475
|
0.00149
|
NM_001540.5(HSPB1):c.-19C>T
|
rs199602956
|
0.00149
|
NM_001845.6(COL4A1):c.1466-6C>T
|
rs183563055
|
0.00149
|
NM_004115.4(FGF14):c.636T>C (p.His212=)
|
rs41281644
|
0.00149
|
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
NM_006859.4(LIAS):c.393+8C>A
|
rs201574806
|
0.00149
|
NM_025136.4(OPA3):c.*5565C>T
|
rs145816878
|
0.00149
|
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=)
|
rs144843013
|
0.00149
|
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp)
|
rs140719871
|
0.00149
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
NM_001161352.2(KCNMA1):c.961-13C>G
|
rs201400753
|
0.00148
|
NM_001363118.2(SLC52A2):c.643C>T (p.Leu215=)
|
rs147954962
|
0.00148
|
NM_001378452.1(ITPR1):c.2007-3T>C
|
rs200335594
|
0.00148
|
NM_003265.3(TLR3):c.2664C>T (p.Ala888=)
|
rs5743320
|
0.00148
|
NM_005506.4(SCARB2):c.704+16T>C
|
rs199686576
|
0.00148
|
NM_016169.4(SUFU):c.528C>T (p.His176=)
|
rs150569584
|
0.00148
|
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=)
|
rs140496149
|
0.00148
|
NM_022464.5(SIL1):c.1030-14G>A
|
rs184154914
|
0.00148
|
NM_024989.4(PGAP1):c.1351-16A>G
|
rs377329019
|
0.00148
|
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
|
rs145238250
|
0.00148
|
NM_182919.4(TICAM1):c.1803G>A (p.Ala601=)
|
rs11466723
|
0.00148
|
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=)
|
rs151255626
|
0.00147
|
NM_004082.5(DCTN1):c.*167C>T
|
rs142053202
|
0.00147
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_213720.3(CHCHD10):c.41+7G>A
|
rs141526972
|
0.00147
|
NM_001077350.3(NPRL3):c.1351+19C>T
|
rs372572343
|
0.00146
|
NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=)
|
rs56005231
|
0.00146
|
NM_002693.3(POLG):c.1890C>T (p.Asn630=)
|
rs148658588
|
0.00146
|
NM_014946.4(SPAST):c.*819C>T
|
rs186529600
|
0.00146
|
NM_018325.5(C9orf72):c.288A>G (p.Ser96=)
|
rs147752518
|
0.00146
|
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)
|
rs45478900
|
0.00146
|
NM_032436.4(CHAMP1):c.951T>C (p.Pro317=)
|
rs144765511
|
0.00146
|
NM_152296.5(ATP1A3):c.1943+12A>T
|
rs201197776
|
0.00146
|
NM_198578.4(LRRK2):c.225G>A (p.Ala75=)
|
rs75054132
|
0.00146
|
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=)
|
rs115772068
|
0.00145
|
NM_001244008.2(KIF1A):c.2445-8C>T
|
rs200705912
|
0.00145
|
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=)
|
rs146635122
|
0.00145
|
NM_001371928.1(AHDC1):c.4021T>G (p.Cys1341Gly)
|
rs111941243
|
0.00145
|
NM_002617.4(PEX10):c.495C>T (p.Phe165=)
|
rs150344828
|
0.00145
|
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)
|
rs201892150
|
0.00145
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=)
|
rs116087798
|
0.00145
|
NM_000156.6(GAMT):c.392-7C>T
|
rs192416474
|
0.00144
|
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)
|
rs2227898
|
0.00144
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)
|
rs117295656
|
0.00144
|
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755
|
0.00144
|
NM_000484.4(APP):c.1795G>A (p.Glu599Lys)
|
rs140304729
|
0.00143
|
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=)
|
rs78544202
|
0.00143
|
NM_001359.2(DECR1):c.432T>C (p.Asn144=)
|
rs137904244
|
0.00143
|
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=)
|
rs146702999
|
0.00143
|
NM_004380.3(CREBBP):c.4133+19T>C
|
rs202204380
|
0.00143
|
NM_013275.6(ANKRD11):c.3578C>T (p.Ala1193Val)
|
rs61744864
|
0.00143
|
NM_020247.5(COQ8A):c.*230G>A
|
rs117808661
|
0.00143
|
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=)
|
rs146904895
|
0.00143
|
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=)
|
rs3731980
|
0.00143
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
NM_001099403.2(PRDM8):c.1011A>C (p.Val337=)
|
rs755114294
|
0.00142
|
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr)
|
rs146948408
|
0.00142
|
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=)
|
rs75207686
|
0.00142
|
NM_001429.4(EP300):c.6210G>A (p.Val2070=)
|
rs11912899
|
0.00142
|
NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=)
|
rs150015583
|
0.00142
|
NM_033343.4(LHX4):c.*119T>C
|
rs180725260
|
0.00142
|
NM_173500.4(TTBK2):c.*581A>T
|
rs575564250
|
0.00142
|
NM_000044.6(AR):c.2180G>T (p.Arg727Leu)
|
rs137852593
|
0.00141
|
NM_000744.7(CHRNA4):c.77-4G>A
|
rs201123897
|
0.00141
|
NM_001077350.3(NPRL3):c.652C>T (p.Arg218Trp)
|
rs201957188
|
0.00141
|
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)
|
rs200195310
|
0.00141
|
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=)
|
rs77144869
|
0.00141
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_002541.4(OGDH):c.1206+19C>A
|
rs202133522
|
0.00141
|
NM_005465.7(AKT3):c.1359T>C (p.Asp453=)
|
rs142844303
|
0.00141
|
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)
|
rs79790275
|
0.00141
|
NM_015046.7(SETX):c.5548+19A>G
|
rs201294921
|
0.00141
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
NM_016630.7(SPG21):c.670-13G>T
|
rs115421171
|
0.00141
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00141
|
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=)
|
rs56043893
|
0.00141
|
NM_198578.4(LRRK2):c.736A>C (p.Asn246His)
|
rs150050676
|
0.00141
|
NM_000466.3(PEX1):c.1797A>G (p.Gly599=)
|
rs76986636
|
0.00140
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_001271.4(CHD2):c.330G>A (p.Arg110=)
|
rs138626801
|
0.00140
|
NM_003719.5(PDE8B):c.*1213C>T
|
rs187090647
|
0.00140
|
NM_006267.5(RANBP2):c.3501T>C (p.Asp1167=)
|
rs141352171
|
0.00140
|
NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val)
|
rs148243995
|
0.00140
|
NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser)
|
rs374668457
|
0.00140
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_018026.4(PACS1):c.535-4G>A
|
rs112192900
|
0.00140
|
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser)
|
rs115475262
|
0.00140
|
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)
|
rs76249490
|
0.00140
|
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=)
|
rs77912754
|
0.00140
|
NM_020822.3(KCNT1):c.435-17G>A
|
rs140115987
|
0.00140
|
NM_025219.3(DNAJC5):c.*750G>T
|
rs140106848
|
0.00140
|
NM_033064.5(ATCAY):c.*1653G>T
|
rs543950349
|
0.00140
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00140
|
NM_182919.4(TICAM1):c.306G>A (p.Leu102=)
|
rs11466720
|
0.00140
|
NM_001111.5(ADAR):c.2079+8G>A
|
rs376867928
|
0.00139
|
NM_001205293.3(CACNA1E):c.4548C>T (p.Ala1516=)
|
rs201602244
|
0.00139
|
NM_004738.5(VAPB):c.*1413C>G
|
rs190582293
|
0.00139
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_025243.4(SLC19A3):c.*1696G>T
|
rs148557151
|
0.00139
|
NM_001110556.2(FLNA):c.942A>G (p.Gly314=)
|
rs200763980
|
0.00138
|
NM_001205293.3(CACNA1E):c.2328C>T (p.Ser776=)
|
rs182071786
|
0.00138
|
NM_001205293.3(CACNA1E):c.954C>T (p.Thr318=)
|
rs147221625
|
0.00138
|
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)
|
rs187153231
|
0.00138
|
NM_001429.4(EP300):c.1878+9C>G
|
rs186198699
|
0.00138
|
NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg)
|
rs201627758
|
0.00138
|
NM_003042.4(SLC6A1):c.1647C>T (p.Pro549=)
|
rs2272401
|
0.00138
|
NM_003072.5(SMARCA4):c.859+7T>A
|
rs141461778
|
0.00138
|
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile)
|
rs55833708
|
0.00138
|
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys)
|
rs148997223
|
0.00138
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
NM_001127178.3(PIGG):c.2150C>A (p.Ser717Tyr)
|
rs117059276
|
0.00137
|
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)
|
rs145322467
|
0.00137
|
NM_001288705.3(CSF1R):c.1626+3G>A
|
rs41424145
|
0.00137
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=)
|
rs144309427
|
0.00137
|
NM_013275.6(ANKRD11):c.7839C>G (p.Ala2613=)
|
rs143287644
|
0.00137
|
NM_014324.6(AMACR):c.*1852C>T
|
rs563065271
|
0.00137
|
NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln)
|
rs141346625
|
0.00137
|
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val)
|
rs58597457
|
0.00137
|
NM_153252.5(BRWD3):c.*6640T>A
|
rs192201825
|
0.00137
|
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=)
|
rs199802825
|
0.00136
|
NM_001134407.3(GRIN2A):c.*3687C>A
|
rs150879081
|
0.00136
|
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=)
|
rs143914980
|
0.00136
|
NM_001347721.2(DYRK1A):c.925-19A>G
|
rs78428152
|
0.00136
|
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr)
|
rs117505788
|
0.00136
|
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)
|
rs144199562
|
0.00136
|
NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser)
|
rs138807504
|
0.00136
|
NM_000368.5(TSC1):c.*2142T>C
|
rs112314368
|
0.00135
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
NM_001111.5(ADAR):c.1926T>C (p.His642=)
|
rs150171059
|
0.00135
|
NM_001111.5(ADAR):c.2668+6T>C
|
rs190881240
|
0.00135
|
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser)
|
rs146370051
|
0.00135
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
NM_002180.3(IGHMBP2):c.-28C>A
|
rs117368938
|
0.00135
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_025219.3(DNAJC5):c.*195G>A
|
rs180676568
|
0.00135
|
NM_032193.4(RNASEH2C):c.-10A>G
|
rs77371161
|
0.00135
|
NM_145725.3(TRAF3):c.820-15G>T
|
rs201052970
|
0.00135
|
NM_152564.5(VPS13B):c.2651-15A>C
|
rs370251406
|
0.00135
|
NM_152743.4(BRAT1):c.1770+13A>G
|
rs368492447
|
0.00135
|
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp)
|
rs201146062
|
0.00135
|
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys)
|
rs144338465
|
0.00135
|
NM_001134407.3(GRIN2A):c.-34C>A
|
rs564039694
|
0.00134
|
NM_001134407.3(GRIN2A):c.1777+17G>A
|
rs375869375
|
0.00134
|
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=)
|
rs78858677
|
0.00134
|
NM_002578.5(PAK3):c.*463T>C
|
rs761662392
|
0.00134
|
NM_002778.4(PSAP):c.120C>T (p.Ser40=)
|
rs141231601
|
0.00134
|
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)
|
rs117709404
|
0.00134
|
NM_006772.3(SYNGAP1):c.1803G>A (p.Ala601=)
|
rs77934848
|
0.00134
|
NM_006946.4(SPTBN2):c.1654-13G>A
|
rs200980512
|
0.00134
|
NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=)
|
rs139314486
|
0.00134
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn)
|
rs74622901
|
0.00134
|
NM_153252.5(BRWD3):c.*5333G>T
|
rs180875963
|
0.00134
|
NM_182961.4(SYNE1):c.18574-13T>C
|
rs148664724
|
0.00134
|
NM_182961.4(SYNE1):c.3027+17C>T
|
rs375786325
|
0.00134
|
NM_000156.6(GAMT):c.348G>A (p.Leu116=)
|
rs117884619
|
0.00133
|
NM_001112741.2(KCNC1):c.1287C>A (p.Ala429=)
|
rs139804857
|
0.00133
|
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=)
|
rs149318543
|
0.00133
|
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=)
|
rs143669998
|
0.00133
|
NM_002857.4(PEX19):c.*1471A>T
|
rs2301299
|
0.00133
|
NM_002857.4(PEX19):c.346+14A>G
|
rs77156017
|
0.00133
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_005027.4(PIK3R2):c.1416+11C>T
|
rs140187437
|
0.00133
|
NM_005120.3(MED12):c.3699G>A (p.Ala1233=)
|
rs184162709
|
0.00133
|
NM_006796.3(AFG3L2):c.-32C>T
|
rs556432963
|
0.00133
|
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442
|
0.00133
|
NM_014043.4(CHMP2B):c.35-7C>T
|
rs200912994
|
0.00133
|
NM_020919.4(ALS2):c.4280+16A>G
|
rs140257386
|
0.00133
|
NM_021815.5(SLC5A7):c.477G>A (p.Val159=)
|
rs143203868
|
0.00133
|
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=)
|
rs144684998
|
0.00132
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_001371928.1(AHDC1):c.125G>A (p.Arg42Gln)
|
rs201360711
|
0.00132
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510
|
0.00132
|
NM_006267.5(RANBP2):c.4826A>T (p.Gln1609Leu)
|
rs146669983
|
0.00132
|
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=)
|
rs148060509
|
0.00132
|
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser)
|
rs144408326
|
0.00132
|
NM_198578.4(LRRK2):c.1740A>T (p.Leu580Phe)
|
rs145906734
|
0.00132
|
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)
|
rs142004524
|
0.00131
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
NM_001205293.3(CACNA1E):c.501G>C (p.Val167=)
|
rs3856089
|
0.00131
|
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser)
|
rs200161440
|
0.00131
|
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=)
|
rs186888528
|
0.00131
|
NM_001927.4(DES):c.*475T>G
|
rs138913201
|
0.00131
|
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=)
|
rs78731303
|
0.00131
|
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met)
|
rs140998225
|
0.00131
|
NM_015046.7(SETX):c.-70T>C
|
rs72765839
|
0.00131
|
NM_015192.4(PLCB1):c.1678+10C>T
|
rs369652433
|
0.00131
|
NM_024989.4(PGAP1):c.649+11T>A
|
rs181229301
|
0.00131
|
NM_000742.4(CHRNA2):c.*1849A>G
|
rs531828656
|
0.00130
|
NM_000925.4(PDHB):c.198A>G (p.Ala66=)
|
rs138621975
|
0.00130
|
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)
|
rs140353002
|
0.00130
|
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=)
|
rs78807992
|
0.00130
|
NM_004082.5(DCTN1):c.2649C>T (p.Ser883=)
|
rs140986485
|
0.00130
|
NM_007327.4(GRIN1):c.258+18C>T
|
rs202160831
|
0.00130
|
NM_021098.3(CACNA1H):c.1213-18C>T
|
rs57432507
|
0.00130
|
NM_021098.3(CACNA1H):c.4778-5C>T
|
rs72552061
|
0.00130
|
NM_025219.3(DNAJC5):c.456C>T (p.Pro152=)
|
rs140326040
|
0.00130
|
NM_144599.5(NIPA1):c.*3590A>G
|
rs145202306
|
0.00130
|
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=)
|
rs141974120
|
0.00129
|
NM_002693.3(POLG):c.1585+11T>C
|
rs201566815
|
0.00129
|
NM_006267.5(RANBP2):c.5217C>T (p.Ala1739=)
|
rs146460294
|
0.00129
|
NM_015046.7(SETX):c.6936-11A>G
|
rs146193654
|
0.00129
|
NM_015560.2(OPA1):c.-172T>A
|
rs146295726
|
0.00129
|
NM_001111.5(ADAR):c.2886-11_2886-10del
|
rs557801982
|
0.00128
|
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=)
|
rs148016417
|
0.00128
|
NM_001378969.1(KCND3):c.117T>C (p.Asp39=)
|
rs12720446
|
0.00128
|
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)
|
rs139416105
|
0.00128
|
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=)
|
rs138641101
|
0.00128
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00128
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
NM_004519.4(KCNQ3):c.1568+12A>G
|
rs181790623
|
0.00128
|
NM_012338.4(TSPAN12):c.*334A>T
|
rs545129654
|
0.00128
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=)
|
rs80242901
|
0.00128
|
NM_015338.6(ASXL1):c.252+11T>C
|
rs143337375
|
0.00128
|
NM_022089.4(ATP13A2):c.706-14C>T
|
rs371532404
|
0.00128
|
NM_025136.4(OPA3):c.*3884G>A
|
rs187028696
|
0.00128
|
NM_173354.5(SIK1):c.1119+7G>A
|
rs201075575
|
0.00128
|
NM_001110556.2(FLNA):c.6023-10C>G
|
rs72616474
|
0.00127
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_006459.4(ERLIN1):c.243-19T>G
|
rs141220781
|
0.00127
|
NM_012281.3(KCND2):c.1473C>T (p.His491=)
|
rs145422660
|
0.00127
|
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=)
|
rs143600441
|
0.00127
|
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys)
|
rs143719918
|
0.00127
|
NM_015338.6(ASXL1):c.3029C>T (p.Thr1010Met)
|
rs116112525
|
0.00127
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)
|
rs138032057
|
0.00127
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
NM_000702.4(ATP1A2):c.*1212G>C
|
rs558677583
|
0.00126
|
NM_002541.4(OGDH):c.935+15G>A
|
rs139263859
|
0.00126
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
NM_005249.5(FOXG1):c.447C>T (p.Ala149=)
|
rs112803404
|
0.00126
|
NM_015192.4(PLCB1):c.1336-13T>C
|
rs185405599
|
0.00126
|
NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys)
|
rs146747814
|
0.00126
|
NM_021267.5(CERS1):c.450C>T (p.Ala150=)
|
rs201106410
|
0.00126
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
NM_152564.5(VPS13B):c.10824C>T (p.His3608=)
|
rs114818249
|
0.00126
|
NM_152743.4(BRAT1):c.1579C>T (p.Leu527=)
|
rs151161353
|
0.00126
|
NM_001365999.1(SZT2):c.3267C>T (p.Val1089=)
|
rs147008168
|
0.00125
|
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_001382391.1(CSPP1):c.1245+15C>T
|
rs200874913
|
0.00125
|
NM_001846.4(COL4A2):c.2244C>T (p.Leu748=)
|
rs375548321
|
0.00125
|
NM_003334.4(UBA1):c.480+19C>G
|
rs200340536
|
0.00125
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
NM_025219.3(DNAJC5):c.*1433G>A
|
rs41278220
|
0.00125
|
NM_173354.5(SIK1):c.2160G>T (p.Pro720=)
|
rs371001336
|
0.00125
|
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)
|
rs2228067
|
0.00124
|
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)
|
rs143220470
|
0.00124
|
NM_000815.5(GABRD):c.470+20G>A
|
rs372728395
|
0.00124
|
NM_001040142.2(SCN2A):c.*1474G>A
|
rs138232803
|
0.00124
|
NM_001134407.3(GRIN2A):c.*3305C>A
|
rs149492540
|
0.00124
|
NM_001145.4(ANG):c.-383C>G
|
rs113950902
|
0.00124
|
NM_001367561.1(DOCK7):c.2859+20T>C
|
rs567794345
|
0.00124
|
NM_001371727.1(GABRB2):c.984C>T (p.Tyr328=)
|
rs140538607
|
0.00124
|
NM_001385875.1(ZFYVE27):c.876+15C>T
|
rs202196759
|
0.00124
|
NM_001845.6(COL4A1):c.3877-8G>A
|
rs370539477
|
0.00124
|
NM_002541.4(OGDH):c.357C>T (p.Asn119=)
|
rs116191385
|
0.00124
|
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=)
|
rs61731405
|
0.00124
|
NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu)
|
rs200531141
|
0.00124
|
NM_014043.4(CHMP2B):c.*1610C>T
|
rs191312397
|
0.00124
|
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val)
|
rs180791005
|
0.00124
|
NM_198578.4(LRRK2):c.5015+13T>A
|
rs142483656
|
0.00124
|
NM_000044.6(AR):c.1937C>A (p.Ala646Asp)
|
rs1800053
|
0.00123
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_000834.5(GRIN2B):c.3117C>T (p.Tyr1039=)
|
rs147762014
|
0.00123
|
NM_001130823.3(DNMT1):c.768+12T>A
|
rs189898346
|
0.00123
|
NM_001130823.3(DNMT1):c.768+18C>A
|
rs200380915
|
0.00123
|
NM_001160148.2(DDHD1):c.1191A>G (p.Thr397=)
|
rs139838546
|
0.00123
|
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr)
|
rs145361311
|
0.00123
|
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=)
|
rs35692977
|
0.00123
|
NM_005045.4(RELN):c.3123C>T (p.Gly1041=)
|
rs41276148
|
0.00123
|
NM_015338.6(ASXL1):c.2222A>T (p.Asp741Val)
|
rs149971443
|
0.00123
|
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=)
|
rs76270730
|
0.00122
|
NM_000815.5(GABRD):c.68+18G>A
|
rs952639317
|
0.00122
|
NM_005120.3(MED12):c.5748+16G>T
|
rs199760183
|
0.00122
|
NM_021098.3(CACNA1H):c.4248C>G (p.Leu1416=)
|
rs58110066
|
0.00122
|
NM_032409.3(PINK1):c.387+20A>G
|
rs368222506
|
0.00122
|
NM_000742.4(CHRNA2):c.*1403C>G
|
rs376282591
|
0.00121
|
NM_001099403.2(PRDM8):c.1857G>T (p.Leu619=)
|
rs140737026
|
0.00121
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=)
|
rs139534358
|
0.00121
|
NM_001845.6(COL4A1):c.*1014C>T
|
rs139916479
|
0.00121
|
NM_004974.4(KCNA2):c.1299A>T (p.Thr433=)
|
rs80034565
|
0.00121
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_006612.6(KIF1C):c.3027C>T (p.Val1009=)
|
rs141589627
|
0.00121
|
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys)
|
rs202081612
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_021830.5(TWNK):c.1735-14C>A
|
rs201795189
|
0.00121
|
NM_022464.5(SIL1):c.865-7C>T
|
rs141796576
|
0.00121
|
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=)
|
rs116197349
|
0.00121
|
NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr)
|
rs200534160
|
0.00121
|
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His)
|
rs78365431
|
0.00121
|
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=)
|
rs367643585
|
0.00120
|
NM_001846.4(COL4A2):c.3042A>C (p.Pro1014=)
|
rs200384476
|
0.00120
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_005573.4(LMNB1):c.1492-11G>T
|
rs201050320
|
0.00120
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_018129.4(PNPO):c.*2291G>A
|
rs76311835
|
0.00120
|
NM_018834.6(MATR3):c.1347C>T (p.Ala449=)
|
rs141986556
|
0.00120
|
NM_032737.4(LMNB2):c.1482+15C>T
|
rs199890540
|
0.00120
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00120
|
NM_001110792.2(MECP2):c.246C>T (p.Ser82=)
|
rs61754439
|
0.00119
|
NM_001130823.3(DNMT1):c.683+16A>C
|
rs370399482
|
0.00119
|
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=)
|
rs78241448
|
0.00119
|
NM_001371928.1(AHDC1):c.2745G>A (p.Leu915=)
|
rs138452825
|
0.00119
|
NM_001371928.1(AHDC1):c.4200C>T (p.Pro1400=)
|
rs149518384
|
0.00119
|
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)
|
rs146217031
|
0.00119
|
NM_000475.5(NR0B1):c.16C>A (p.His6Asn)
|
rs191365011
|
0.00118
|
NM_001003800.2(BICD2):c.1806G>A (p.Thr602=)
|
rs138300993
|
0.00118
|
NM_001008212.2(OPTN):c.876G>A (p.Pro292=)
|
rs151065414
|
0.00118
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys)
|
rs3764758
|
0.00118
|
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=)
|
rs150544061
|
0.00118
|
NM_001205293.3(CACNA1E):c.6537G>A (p.Ala2179=)
|
rs375338599
|
0.00118
|
NM_002156.5(HSPD1):c.603A>G (p.Val201=)
|
rs146598485
|
0.00118
|
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)
|
rs144641429
|
0.00118
|
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=)
|
rs145183787
|
0.00118
|
NM_014467.3(SRPX2):c.840G>A (p.Ala280=)
|
rs139377205
|
0.00118
|
NM_018325.5(C9orf72):c.*914A>G
|
rs561651779
|
0.00118
|
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=)
|
rs117964326
|
0.00118
|
NM_025243.4(SLC19A3):c.*803G>A
|
rs186279191
|
0.00118
|
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
NM_000742.4(CHRNA2):c.*1117G>A
|
rs7840761
|
0.00117
|
NM_002693.3(POLG):c.1949+20G>C
|
rs371964664
|
0.00117
|
NM_003865.3(HESX1):c.90C>T (p.Asp30=)
|
rs115448575
|
0.00117
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=)
|
rs141869477
|
0.00117
|
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)
|
rs150672943
|
0.00117
|
NM_006030.4(CACNA2D2):c.615C>T (p.Tyr205=)
|
rs138163756
|
0.00117
|
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser)
|
rs2433786
|
0.00117
|
NM_006612.6(KIF1C):c.885G>A (p.Ser295=)
|
rs148489739
|
0.00117
|
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=)
|
rs59310656
|
0.00117
|
NM_032737.4(LMNB2):c.255C>G (p.Thr85=)
|
rs201524951
|
0.00117
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_198578.4(LRRK2):c.2022A>C (p.Val674=)
|
rs72546319
|
0.00117
|
NM_000044.6(AR):c.1960G>A (p.Glu654Lys)
|
rs200737258
|
0.00116
|
NM_001099403.2(PRDM8):c.1506G>A (p.Ser502=)
|
rs764387669
|
0.00116
|
NM_001130438.3(SPTAN1):c.1807-11T>C
|
rs139049596
|
0.00116
|
NM_001845.6(COL4A1):c.904-9C>T
|
rs201481886
|
0.00116
|
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)
|
rs145867502
|
0.00116
|
NM_003619.4(PRSS12):c.645A>G (p.Gly215=)
|
rs140470579
|
0.00116
|
NM_004380.3(CREBBP):c.1574-12C>T
|
rs185243405
|
0.00116
|
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)
|
rs144832179
|
0.00116
|
NM_005506.4(SCARB2):c.246G>C (p.Arg82=)
|
rs35035064
|
0.00116
|
NM_006070.6(TFG):c.415+7C>G
|
rs149927288
|
0.00116
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_024989.4(PGAP1):c.1729-12G>A
|
rs75342998
|
0.00116
|
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)
|
rs151103940
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_000484.4(APP):c.2217C>T (p.Asp739=)
|
rs145277462
|
0.00115
|
NM_000815.5(GABRD):c.1107C>A (p.Gly369=)
|
rs148300882
|
0.00115
|
NM_001042432.2(CLN3):c.318C>T (p.Leu106=)
|
rs148248159
|
0.00115
|
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=)
|
rs782713602
|
0.00115
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=)
|
rs146020786
|
0.00115
|
NM_002361.4(MAG):c.1647G>A (p.Ser549=)
|
rs148183570
|
0.00115
|
NM_003719.5(PDE8B):c.1152T>C (p.Thr384=)
|
rs114017128
|
0.00115
|
NM_003977.4(AIP):c.68G>A (p.Gly23Glu)
|
rs116940576
|
0.00115
|
NM_004738.5(VAPB):c.316-17A>C
|
rs201335617
|
0.00115
|
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)
|
rs202232792
|
0.00115
|
NM_014946.4(SPAST):c.415+12G>A
|
rs539075273
|
0.00115
|
NM_015346.4(ZFYVE26):c.5799C>T (p.Ser1933=)
|
rs145858625
|
0.00115
|
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro)
|
rs71647827
|
0.00115
|
NM_178013.4(PRIMA1):c.402G>A (p.Glu134=)
|
rs139674492
|
0.00115
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_000061.3(BTK):c.615G>T (p.Glu205Asp)
|
rs35877704
|
0.00114
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
NM_001134407.3(GRIN2A):c.2007+15C>T
|
rs76627672
|
0.00114
|
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488
|
0.00114
|
NM_001205293.3(CACNA1E):c.1935A>G (p.Ala645=)
|
rs183395195
|
0.00114
|
NM_001776.6(ENTPD1):c.1437C>T (p.Phe479=)
|
rs150615255
|
0.00114
|
NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr)
|
rs145484343
|
0.00114
|
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys)
|
rs72700613
|
0.00114
|
NM_014844.5(TECPR2):c.762G>A (p.Thr254=)
|
rs138070234
|
0.00114
|
NM_021098.3(CACNA1H):c.643+11G>A
|
rs200949826
|
0.00114
|
NM_025000.4(DCAF17):c.*1034G>A
|
rs3731979
|
0.00114
|
NM_025000.4(DCAF17):c.*378T>C
|
rs3795997
|
0.00114
|
NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys)
|
rs78319441
|
0.00113
|
NM_001003800.2(BICD2):c.240+8G>T
|
rs371559371
|
0.00113
|
NM_001044385.3(TMEM237):c.*564T>C
|
rs141560423
|
0.00113
|
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=)
|
rs143941068
|
0.00113
|
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=)
|
rs151189395
|
0.00113
|
NM_002397.5(MEF2C):c.811-13C>T
|
rs201988423
|
0.00113
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_005097.4(LGI1):c.345A>G (p.Pro115=)
|
rs151104648
|
0.00113
|
NM_007126.5(VCP):c.1081+17C>T
|
rs200756991
|
0.00113
|
NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser)
|
rs146464648
|
0.00113
|
NM_021098.3(CACNA1H):c.3669C>T (p.Ala1223=)
|
rs59954346
|
0.00113
|
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=)
|
rs74983687
|
0.00113
|
NM_152564.5(VPS13B):c.4224+549C>T
|
rs182492131
|
0.00113
|
NM_173728.4(ARHGEF15):c.1260+8C>G
|
rs73975818
|
0.00113
|
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=)
|
rs149786687
|
0.00113
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=)
|
rs140116256
|
0.00112
|
NM_001127178.3(PIGG):c.2085C>T (p.Ala695=)
|
rs150774662
|
0.00112
|
NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=)
|
rs2275098
|
0.00112
|
NM_001377265.1(MAPT):c.912C>G (p.Pro304=)
|
rs142327009
|
0.00112
|
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)
|
rs147676363
|
0.00112
|
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly)
|
rs140946580
|
0.00112
|
NM_006087.4(TUBB4A):c.57+12A>G
|
rs376283715
|
0.00112
|
NM_007375.4(TARDBP):c.24C>T (p.Thr8=)
|
rs72870030
|
0.00112
|
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=)
|
rs370926189
|
0.00112
|
NM_199189.3(MATR3):c.-247C>T
|
rs141402332
|
0.00112
|
NM_001024845.3(SLC6A9):c.1866T>C (p.Ser622=)
|
rs150379192
|
0.00111
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001110792.2(MECP2):c.*393G>A
|
rs267608361
|
0.00111
|
NM_001385875.1(ZFYVE27):c.*983A>G
|
rs3750611
|
0.00111
|
NM_001429.4(EP300):c.1686A>C (p.Pro562=)
|
rs144993798
|
0.00111
|
NM_006279.5(ST3GAL3):c.745-20C>T
|
rs374443638
|
0.00111
|
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile)
|
rs200852197
|
0.00111
|
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=)
|
rs140330609
|
0.00111
|
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg)
|
rs72650664
|
0.00111
|
NM_144599.5(NIPA1):c.*4885T>C
|
rs555159081
|
0.00111
|
NM_182961.4(SYNE1):c.9651+12G>A
|
rs143173603
|
0.00111
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_000284.4(PDHA1):c.*1345A>G
|
rs193253848
|
0.00110
|
NM_000726.5(CACNB4):c.792T>C (p.Ser264=)
|
rs139448267
|
0.00110
|
NM_001271.4(CHD2):c.2876+11G>A
|
rs199828490
|
0.00110
|
NM_001323289.2(CDKL5):c.283-12T>C
|
rs188879559
|
0.00110
|
NM_003070.5(SMARCA2):c.2349-3T>C
|
rs371183012
|
0.00110
|
NM_006267.5(RANBP2):c.2502C>G (p.Asn834Lys)
|
rs144573168
|
0.00110
|
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)
|
rs11568178
|
0.00110
|
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=)
|
rs145869401
|
0.00110
|
NM_000484.4(APP):c.1458+19G>A
|
rs112732953
|
0.00109
|
NM_000815.5(GABRD):c.87C>T (p.Gly29=)
|
rs79685811
|
0.00109
|
NM_001032221.6(STXBP1):c.902+15C>T
|
rs199534789
|
0.00109
|
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=)
|
rs149056216
|
0.00109
|
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=)
|
rs587781187
|
0.00109
|
NM_001846.4(COL4A2):c.*280C>G
|
rs118089787
|
0.00109
|
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val)
|
rs140987045
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_006030.4(CACNA2D2):c.1340-17C>T
|
rs151272438
|
0.00109
|
NM_020631.6(PLEKHG5):c.1818C>T (p.Phe606=)
|
rs149147021
|
0.00109
|
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu)
|
rs145376050
|
0.00109
|
NM_021098.3(CACNA1H):c.3115G>A (p.Glu1039Lys)
|
rs140421233
|
0.00109
|
NM_032737.4(LMNB2):c.856-14C>G
|
rs370425122
|
0.00109
|
NM_130837.3(OPA1):c.2880A>G (p.Arg960=)
|
rs144898877
|
0.00109
|
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
|
rs116551057
|
0.00108
|
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)
|
rs61752387
|
0.00108
|
NM_001127222.2(CACNA1A):c.1914-4G>A
|
rs191026552
|
0.00108
|
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=)
|
rs139861062
|
0.00108
|
NM_001351132.2(PEX5):c.471C>T (p.Ala157=)
|
rs144331955
|
0.00108
|
NM_001371279.1(REEP1):c.784-16C>T
|
rs182467924
|
0.00108
|
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu)
|
rs150140314
|
0.00108
|
NM_001379500.1(COL18A1):c.*918C>T
|
rs117981301
|
0.00108
|
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=)
|
rs138404604
|
0.00108
|
NM_004181.4(UCHL1):c.-71C>G
|
rs201100258
|
0.00108
|
NM_004820.5(CYP7B1):c.*49C>T
|
rs8192907
|
0.00108
|
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=)
|
rs112859649
|
0.00108
|
NM_006267.5(RANBP2):c.783-6T>C
|
rs138540027
|
0.00108
|
NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)
|
rs146872023
|
0.00108
|
NM_006721.4(ADK):c.1088G>A (p.Ter363=)
|
rs148819558
|
0.00108
|
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly)
|
rs139759084
|
0.00108
|
NM_013254.4(TBK1):c.135C>T (p.Phe45=)
|
rs11538420
|
0.00108
|
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln)
|
rs202165114
|
0.00108
|
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=)
|
rs141244183
|
0.00108
|
NM_025219.3(DNAJC5):c.*1556A>G
|
rs58526294
|
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_000815.5(GABRD):c.831C>T (p.Pro277=)
|
rs148120771
|
0.00107
|
NM_001010867.4(IBA57):c.645C>T (p.Asp215=)
|
rs61743941
|
0.00107
|
NM_001130823.3(DNMT1):c.493+8C>T
|
rs138998574
|
0.00107
|
NM_001282531.3(ADNP):c.2943G>T (p.Val981=)
|
rs143103063
|
0.00107
|
NM_001288705.3(CSF1R):c.802G>A (p.Val268Ile)
|
rs143274491
|
0.00107
|
NM_001367561.1(DOCK7):c.4668G>A (p.Arg1556=)
|
rs115353638
|
0.00107
|
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=)
|
rs533517668
|
0.00107
|
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)
|
rs142527379
|
0.00107
|
NM_003072.5(SMARCA4):c.4171-1737T>A
|
rs199543083
|
0.00107
|
NM_004565.3(PEX14):c.36+8G>A
|
rs200154696
|
0.00107
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
NM_020631.6(PLEKHG5):c.87G>A (p.Pro29=)
|
rs140892576
|
0.00107
|
NM_025219.3(DNAJC5):c.*3269C>G
|
rs528394634
|
0.00107
|
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=)
|
rs149923357
|
0.00107
|
NM_000484.4(APP):c.741C>T (p.Asp247=)
|
rs148832151
|
0.00106
|
NM_001003787.4(STRADA):c.457+14G>C
|
rs373374327
|
0.00106
|
NM_001032221.6(STXBP1):c.1359+15C>T
|
rs374034782
|
0.00106
|
NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=)
|
rs148176695
|
0.00106
|
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=)
|
rs142219317
|
0.00106
|
NM_001414.4(EIF2B1):c.*196A>T
|
rs11057309
|
0.00106
|
NM_002618.4(PEX13):c.1044T>C (p.Val348=)
|
rs151304822
|
0.00106
|
NM_003265.3(TLR3):c.2217T>C (p.His739=)
|
rs116269970
|
0.00106
|
NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=)
|
rs148936933
|
0.00106
|
NM_006214.4(PHYH):c.321G>A (p.Ser107=)
|
rs115198308
|
0.00106
|
NM_006267.5(RANBP2):c.1920A>G (p.Ala640=)
|
rs147080366
|
0.00106
|
NM_012179.4(FBXO7):c.1144+9C>T
|
rs199954341
|
0.00106
|
NM_025219.3(DNAJC5):c.*2218A>G
|
rs142121195
|
0.00106
|
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile)
|
rs4870093
|
0.00106
|
NM_182961.4(SYNE1):c.21523-8T>G
|
rs187773880
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
NM_001069.3(TUBB2A):c.553G>A (p.Ala185Thr)
|
rs76334433
|
0.00105
|
NM_001205293.3(CACNA1E):c.4905C>T (p.Asp1635=)
|
rs183065185
|
0.00105
|
NM_001329943.3(KIAA0586):c.1130-16A>C
|
rs187748315
|
0.00105
|
NM_001352514.2(HLCS):c.2121+11T>A
|
rs371974889
|
0.00105
|
NM_001845.6(COL4A1):c.3506-7C>G
|
rs377592935
|
0.00105
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala)
|
rs77261230
|
0.00105
|
NM_005045.4(RELN):c.5880A>G (p.Thr1960=)
|
rs362793
|
0.00105
|
NM_005120.3(MED12):c.2981+13G>A
|
rs73214870
|
0.00105
|
NM_006267.5(RANBP2):c.4530A>G (p.Leu1510=)
|
rs111676038
|
0.00105
|
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)
|
rs182411153
|
0.00105
|
NM_025233.7(COASY):c.207G>A (p.Thr69=)
|
rs148132220
|
0.00105
|
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys)
|
rs146913158
|
0.00105
|
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=)
|
rs200395340
|
0.00105
|
NM_000368.5(TSC1):c.876C>T (p.Val292=)
|
rs116756594
|
0.00104
|
NM_001040142.2(SCN2A):c.*2222G>A
|
rs187365022
|
0.00104
|
NM_001134407.3(GRIN2A):c.*6472G>C
|
rs143106212
|
0.00104
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_004586.3(RPS6KA3):c.631+18G>A
|
rs182515508
|
0.00104
|
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)
|
rs201807437
|
0.00104
|
NM_006516.4(SLC2A1):c.*346G>A
|
rs190760291
|
0.00104
|
NM_017882.3(CLN6):c.270C>T (p.Asn90=)
|
rs145247814
|
0.00104
|
NM_018834.6(MATR3):c.*1767C>T
|
rs181125183
|
0.00104
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00103
|
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp)
|
rs200020561
|
0.00103
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_002137.4(HNRNPA2B1):c.658+18C>T
|
rs200943057
|
0.00103
|
NM_002541.4(OGDH):c.1968G>A (p.Ala656=)
|
rs61756582
|
0.00103
|
NM_003042.4(SLC6A1):c.411C>T (p.Asn137=)
|
rs148429200
|
0.00103
|
NM_003072.5(SMARCA4):c.3891C>G (p.Pro1297=)
|
rs149562732
|
0.00103
|
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
|
rs546554430
|
0.00103
|
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=)
|
rs144609433
|
0.00103
|
NM_016032.4(ZDHHC9):c.626-10A>T
|
rs188156112
|
0.00103
|
NM_016373.4(WWOX):c.669T>C (p.Asp223=)
|
rs72549408
|
0.00103
|
NM_021625.5(TRPV4):c.*486T>C
|
rs79157363
|
0.00103
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
NM_000834.5(GRIN2B):c.1338A>G (p.Thr446=)
|
rs141031272
|
0.00102
|
NM_001099922.3(ALG13):c.150C>T (p.Pro50=)
|
rs147897682
|
0.00102
|
NM_001199753.2(CPT1C):c.1383C>T (p.Asn461=)
|
rs111713532
|
0.00102
|
NM_001288705.3(CSF1R):c.2805C>T (p.Ser935=)
|
rs147476583
|
0.00102
|
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=)
|
rs200065104
|
0.00102
|
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)
|
rs3749383
|
0.00102
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
NM_006267.5(RANBP2):c.6663A>G (p.Thr2221=)
|
rs150750548
|
0.00102
|
NM_006796.3(AFG3L2):c.1319-7C>T
|
rs182327153
|
0.00102
|
NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=)
|
rs35102927
|
0.00102
|
NM_016373.4(WWOX):c.888C>G (p.Ser296=)
|
rs3764341
|
0.00102
|
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His)
|
rs142740233
|
0.00102
|
NM_025136.4(OPA3):c.*6688G>A
|
rs181576269
|
0.00102
|
NM_173354.5(SIK1):c.951G>T (p.Val317=)
|
rs113514102
|
0.00102
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_000489.6(ATRX):c.846C>T (p.Ser282=)
|
rs148015780
|
0.00101
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
NM_001029896.2(WDR45):c.351C>T (p.Ile117=)
|
rs140596058
|
0.00101
|
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=)
|
rs150731568
|
0.00101
|
NM_001130823.3(DNMT1):c.4368C>T (p.Pro1456=)
|
rs2229858
|
0.00101
|
NM_001256864.2(DNAJC6):c.513G>A (p.Lys171=)
|
rs148204207
|
0.00101
|
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=)
|
rs114463063
|
0.00101
|
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly)
|
rs201316149
|
0.00101
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
NM_004984.4(KIF5A):c.714+8G>A
|
rs199624091
|
0.00101
|
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=)
|
rs185998087
|
0.00101
|
NM_006950.3(SYN1):c.1110C>T (p.Cys370=)
|
rs141925310
|
0.00101
|
NM_014467.3(SRPX2):c.481C>A (p.Arg161=)
|
rs150552508
|
0.00101
|
NM_025219.3(DNAJC5):c.*2790C>T
|
rs55665472
|
0.00101
|
NM_025219.3(DNAJC5):c.107+10C>T
|
rs181906972
|
0.00101
|
NM_198578.4(LRRK2):c.6510C>A (p.Gly2170=)
|
rs34869625
|
0.00101
|
NM_001182.4(ALDH7A1):c.-29T>C
|
rs556650006
|
0.00100
|
NM_001378120.1(MBD5):c.3754-9T>C
|
rs370173652
|
0.00100
|
NM_001429.4(EP300):c.6969C>G (p.Pro2323=)
|
rs111489369
|
0.00100
|
NM_002541.4(OGDH):c.1830G>A (p.Thr610=)
|
rs150682094
|
0.00100
|
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=)
|
rs150848826
|
0.00100
|
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=)
|
rs113155897
|
0.00100
|
NM_005120.3(MED12):c.438A>G (p.Leu146=)
|
rs35068602
|
0.00100
|
NM_006015.6(ARID1A):c.4152C>T (p.His1384=)
|
rs149908828
|
0.00100
|
NM_015192.4(PLCB1):c.1888+11G>A
|
rs150219357
|
0.00100
|
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)
|
rs144566713
|
0.00100
|
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly)
|
rs147190807
|
0.00099
|
NM_000702.4(ATP1A2):c.*86G>A
|
rs368064571
|
0.00099
|
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)
|
rs148700620
|
0.00099
|
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=)
|
rs201418175
|
0.00099
|
NM_001271.4(CHD2):c.855G>A (p.Ala285=)
|
rs138796857
|
0.00099
|
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=)
|
rs145401225
|
0.00099
|
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=)
|
rs111674454
|
0.00099
|
NM_002739.5(PRKCG):c.642G>A (p.Thr214=)
|
rs77550964
|
0.00099
|
NM_007262.5(PARK7):c.501A>G (p.Ala167=)
|
rs71653621
|
0.00099
|
NM_013275.6(ANKRD11):c.4440T>C (p.His1480=)
|
rs139429949
|
0.00099
|
NM_152743.4(BRAT1):c.282+9G>A
|
rs192133446
|
0.00099
|
NM_182919.4(TICAM1):c.95C>T (p.Thr32Ile)
|
rs79591246
|
0.00099
|
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)
|
rs147947903
|
0.00099
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln)
|
rs34194489
|
0.00098
|
NM_001130823.3(DNMT1):c.*287T>C
|
rs189422259
|
0.00098
|
NM_001329943.3(KIAA0586):c.200-14C>A
|
rs373882617
|
0.00098
|
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=)
|
rs61738360
|
0.00098
|
NM_001365999.1(SZT2):c.3570C>T (p.Val1190=)
|
rs147644619
|
0.00098
|
NM_001371727.1(GABRB2):c.423C>G (p.Arg141=)
|
rs147449850
|
0.00098
|
NM_002047.2(GARS1):c.-69T>A
|
rs527307703
|
0.00098
|
NM_002693.3(POLG):c.2982-30G>A
|
rs76339822
|
0.00098
|
NM_002857.4(PEX19):c.459G>A (p.Leu153=)
|
rs78340311
|
0.00098
|
NM_004738.5(VAPB):c.*75G>A
|
rs138521885
|
0.00098
|
NM_005045.4(RELN):c.4748-11T>C
|
rs201494847
|
0.00098
|
NM_005051.3(QARS1):c.1055+10G>C
|
rs372899947
|
0.00098
|
NM_006946.4(SPTBN2):c.4985+12G>A
|
rs199692345
|
0.00098
|
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)
|
rs72720524
|
0.00098
|
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=)
|
rs370580872
|
0.00098
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_182961.4(SYNE1):c.14281A>G (p.Arg4761Gly)
|
rs187910661
|
0.00098
|
NM_000702.4(ATP1A2):c.*482A>C
|
rs373029091
|
0.00097
|
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=)
|
rs371450118
|
0.00097
|
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val)
|
rs148727077
|
0.00097
|
NM_001161352.2(KCNMA1):c.2015+7G>A
|
rs78670694
|
0.00097
|
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=)
|
rs142247083
|
0.00097
|
NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=)
|
rs138675194
|
0.00097
|
NM_002397.5(MEF2C):c.834+15C>T
|
rs140447603
|
0.00097
|
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
NM_004385.5(VCAN):c.*961T>C
|
rs531984651
|
0.00097
|
NM_004565.3(PEX14):c.267C>G (p.Val89=)
|
rs146359055
|
0.00097
|
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=)
|
rs142605642
|
0.00097
|
NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=)
|
rs558301893
|
0.00097
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_152564.5(VPS13B):c.11495+19G>A
|
rs370575091
|
0.00097
|
NM_198578.4(LRRK2):c.3777+7C>T
|
rs41286480
|
0.00097
|
NM_000170.3(GLDC):c.222C>T (p.Asp74=)
|
rs148373517
|
0.00096
|
NM_000405.5(GM2A):c.33C>T (p.Ile11=)
|
rs143867953
|
0.00096
|
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser)
|
rs147870525
|
0.00096
|
NM_000811.3(GABRA6):c.60A>G (p.Lys20=)
|
rs112717732
|
0.00096
|
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=)
|
rs140194137
|
0.00096
|
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)
|
rs185341934
|
0.00096
|
NM_001329943.3(KIAA0586):c.340+15T>C
|
rs139305633
|
0.00096
|
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)
|
rs199653503
|
0.00096
|
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=)
|
rs60480887
|
0.00096
|
NM_001371928.1(AHDC1):c.2976C>T (p.Cys992=)
|
rs145774336
|
0.00096
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_006772.3(SYNGAP1):c.296-8C>T
|
rs201145910
|
0.00096
|
NM_013275.6(ANKRD11):c.4619A>G (p.Lys1540Arg)
|
rs145415643
|
0.00096
|
NM_020822.3(KCNT1):c.2350-8G>A
|
rs371678685
|
0.00096
|
NM_025136.4(OPA3):c.*2518A>G
|
rs565012397
|
0.00096
|
NM_139318.5(KCNH5):c.1620A>G (p.Leu540=)
|
rs115435938
|
0.00096
|
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)
|
rs150573530
|
0.00096
|
NM_173500.3(TTBK2):c.-413G>C
|
rs528520159
|
0.00096
|
NM_182961.4(SYNE1):c.9507+19A>G
|
rs200381107
|
0.00096
|
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu)
|
rs144007007
|
0.00095
|
NM_001008212.2(OPTN):c.779+20G>A
|
rs79733653
|
0.00095
|
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=)
|
rs146438406
|
0.00095
|
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=)
|
rs201762977
|
0.00095
|
NM_003334.4(UBA1):c.909+12G>A
|
rs367556596
|
0.00095
|
NM_003560.4(PLA2G6):c.*301G>A
|
rs11570769
|
0.00095
|
NM_004960.4(FUS):c.1566G>A (p.Arg522=)
|
rs138901914
|
0.00095
|
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys)
|
rs558127851
|
0.00095
|
NM_025000.4(DCAF17):c.459-19_459-17del
|
rs546878583
|
0.00095
|
NM_182961.4(SYNE1):c.581+18G>A
|
rs111309750
|
0.00095
|
NM_000447.3(PSEN2):c.366G>A (p.Thr122=)
|
rs148996705
|
0.00094
|
NM_001166114.2(PNPLA6):c.315+13C>T
|
rs200676307
|
0.00094
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
NM_021098.3(CACNA1H):c.2511C>T (p.Ala837=)
|
rs200144667
|
0.00094
|
NM_030665.4(RAI1):c.840_843del (p.Gln280fs)
|
rs775735568
|
0.00094
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
NM_130837.3(OPA1):c.*2993C>A
|
rs143991575
|
0.00094
|
NM_130837.3(OPA1):c.949-11A>C
|
rs376681712
|
0.00094
|
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)
|
rs146279300
|
0.00094
|
NM_000081.4(LYST):c.6588A>G (p.Gly2196=)
|
rs34423788
|
0.00093
|
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)
|
rs61732159
|
0.00093
|
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=)
|
rs151064520
|
0.00093
|
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=)
|
rs188138322
|
0.00093
|
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=)
|
rs55647240
|
0.00093
|
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
NM_003042.4(SLC6A1):c.715-8C>T
|
rs41537851
|
0.00093
|
NM_004408.4(DNM1):c.450C>G (p.Pro150=)
|
rs143834670
|
0.00093
|
NM_004738.5(VAPB):c.*3822C>G
|
rs150825395
|
0.00093
|
NM_006070.6(TFG):c.258G>T (p.Leu86=)
|
rs150620449
|
0.00093
|
NM_015046.7(SETX):c.2124T>C (p.Ser708=)
|
rs139236924
|
0.00093
|
NM_018206.6(VPS35):c.834T>C (p.Thr278=)
|
rs148572750
|
0.00093
|
NM_020822.3(KCNT1):c.985C>T (p.Leu329=)
|
rs147165522
|
0.00093
|
NM_020919.4(ALS2):c.1472-18C>T
|
rs371296732
|
0.00093
|
NM_139058.3(ARX):c.802G>T (p.Val268Leu)
|
rs587783141
|
0.00093
|
NM_152743.4(BRAT1):c.1322-12C>T
|
rs200963118
|
0.00093
|
NM_173728.4(ARHGEF15):c.2004C>T (p.Ser668=)
|
rs142705439
|
0.00093
|
NM_198586.3(NHLRC1):c.*886G>A
|
rs146342540
|
0.00093
|
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)
|
rs1800014
|
0.00092
|
NM_000702.4(ATP1A2):c.2284+18G>T
|
rs369835706
|
0.00092
|
NM_001032221.6(STXBP1):c.1702+11G>A
|
rs201977618
|
0.00092
|
NM_001429.4(EP300):c.6675G>A (p.Gln2225=)
|
rs147880144
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_013275.6(ANKRD11):c.172C>A (p.Arg58=)
|
rs144364610
|
0.00092
|
NM_014946.4(SPAST):c.1173+17A>C
|
rs200640366
|
0.00092
|
NM_018325.5(C9orf72):c.*174C>T
|
rs146530591
|
0.00092
|
NM_021098.3(CACNA1H):c.5655G>A (p.Ala1885=)
|
rs58632975
|
0.00092
|
NM_025136.4(OPA3):c.*4949G>A
|
rs544881797
|
0.00092
|
NM_025233.7(COASY):c.885G>C (p.Gly295=)
|
rs144328390
|
0.00092
|
NM_000481.4(AMT):c.510G>C (p.Val170=)
|
rs140380954
|
0.00091
|
NM_000742.4(CHRNA2):c.1100G>A (p.Arg367Gln)
|
rs149464248
|
0.00091
|
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=)
|
rs138823071
|
0.00091
|
NM_001846.4(COL4A2):c.2004C>T (p.Ala668=)
|
rs148709279
|
0.00091
|
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)
|
rs150145390
|
0.00091
|
NM_004519.4(KCNQ3):c.*3165G>T
|
rs567074601
|
0.00091
|
NM_005045.4(RELN):c.577+7G>T
|
rs188372756
|
0.00091
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)
|
rs148391179
|
0.00091
|
NM_032409.3(PINK1):c.936G>A (p.Arg312=)
|
rs56200357
|
0.00091
|
NM_172107.4(KCNQ2):c.1887+17G>A
|
rs369457896
|
0.00091
|
NM_198578.4(LRRK2):c.4827+9C>A
|
rs113735323
|
0.00091
|
NM_000489.6(ATRX):c.5787-20G>T
|
rs185359850
|
0.00090
|
NM_001044.5(SLC6A3):c.1032-18C>T
|
rs8179028
|
0.00090
|
NM_001368809.2(AMPD2):c.1408-12C>T
|
rs189047791
|
0.00090
|
NM_004408.4(DNM1):c.1782-9A>G
|
rs201739236
|
0.00090
|
NM_006015.6(ARID1A):c.3716-7C>T
|
rs150792057
|
0.00090
|
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val)
|
rs143355299
|
0.00090
|
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys)
|
rs41309046
|
0.00090
|
NM_030930.4(UNC93B1):c.96+10G>A
|
rs188940236
|
0.00090
|
NM_173354.5(SIK1):c.939G>T (p.Gln313His)
|
rs200357670
|
0.00090
|
NM_000484.4(APP):c.663-7T>C
|
rs183084252
|
0.00089
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr)
|
rs201820102
|
0.00089
|
NM_001110556.2(FLNA):c.1066-19C>T
|
rs369196285
|
0.00089
|
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=)
|
rs199903577
|
0.00089
|
NM_001288705.3(CSF1R):c.835G>A (p.Val279Met)
|
rs3829986
|
0.00089
|
NM_001482.3(GATM):c.*699A>C
|
rs750817737
|
0.00089
|
NM_001846.4(COL4A2):c.4146C>T (p.Pro1382=)
|
rs372424
|
0.00089
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_012073.5(CCT5):c.874-16G>T
|
rs80019852
|
0.00089
|
NM_020988.3(GNAO1):c.161+17T>C
|
rs201413721
|
0.00089
|
NM_021098.3(CACNA1H):c.5173+18C>T
|
rs373269618
|
0.00089
|
NM_032581.4(HYCC1):c.834T>G (p.Val278=)
|
rs150739070
|
0.00089
|
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)
|
rs3746366
|
0.00089
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)
|
rs36215251
|
0.00089
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
NM_000108.5(DLD):c.1464+11A>G
|
rs184949878
|
0.00088
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
NM_001130438.3(SPTAN1):c.237+11T>G
|
rs768283186
|
0.00088
|
NM_001205293.3(CACNA1E):c.1171+13G>A
|
rs367834352
|
0.00088
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638
|
0.00088
|
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=)
|
rs201956616
|
0.00088
|
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=)
|
rs143375423
|
0.00088
|
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=)
|
rs62534896
|
0.00088
|
NM_003334.4(UBA1):c.117+9C>T
|
rs371344095
|
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_006015.6(ARID1A):c.472C>T (p.Pro158Ser)
|
rs567246585
|
0.00088
|
NM_006516.4(SLC2A1):c.680-12C>T
|
rs150960456
|
0.00088
|
NM_006796.3(AFG3L2):c.400-14C>G
|
rs192002414
|
0.00088
|
NM_007126.5(VCP):c.*12C>T
|
rs62544156
|
0.00088
|
NM_013254.4(TBK1):c.1227C>T (p.Asp409=)
|
rs150609728
|
0.00088
|
NM_020822.3(KCNT1):c.1134C>T (p.Val378=)
|
rs149960236
|
0.00088
|
NM_020822.3(KCNT1):c.3157-8C>T
|
rs371874401
|
0.00088
|
NM_021098.3(CACNA1H):c.1213-11C>T
|
rs57772860
|
0.00088
|
NM_025136.4(OPA3):c.*1238G>A
|
rs187216413
|
0.00088
|
NM_032776.3(JMJD1C):c.3717T>C (p.Asn1239=)
|
rs751482085
|
0.00088
|
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=)
|
rs114038492
|
0.00088
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_000744.7(CHRNA4):c.384-18C>T
|
rs200407438
|
0.00087
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_001166114.2(PNPLA6):c.1530+11G>A
|
rs184998637
|
0.00087
|
NM_001330260.2(SCN8A):c.4281+18G>A
|
rs368432695
|
0.00087
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)
|
rs41287114
|
0.00087
|
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=)
|
rs144434753
|
0.00087
|
NM_004519.4(KCNQ3):c.*1159G>A
|
rs117218884
|
0.00087
|
NM_006267.5(RANBP2):c.8599+16G>A
|
rs145152325
|
0.00087
|
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)
|
rs112005830
|
0.00087
|
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=)
|
rs143198263
|
0.00087
|
NM_020822.3(KCNT1):c.854+10G>A
|
rs146470183
|
0.00087
|
NM_144599.5(NIPA1):c.906C>T (p.Ser302=)
|
rs147070285
|
0.00087
|
NM_145725.3(TRAF3):c.1224C>G (p.Val408=)
|
rs140423891
|
0.00087
|
NM_145725.3(TRAF3):c.245+16C>T
|
rs200592179
|
0.00087
|
NM_153252.5(BRWD3):c.*5264G>T
|
rs760065405
|
0.00087
|
NM_000081.4(LYST):c.2769A>C (p.Ser923=)
|
rs112739986
|
0.00086
|
NM_001003800.2(BICD2):c.813C>T (p.Phe271=)
|
rs150389188
|
0.00086
|
NM_001205293.3(CACNA1E):c.4212A>G (p.Val1404=)
|
rs61731221
|
0.00086
|
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)
|
rs146406037
|
0.00086
|
NM_001365999.1(SZT2):c.7512-3C>T
|
rs117106532
|
0.00086
|
NM_001365999.1(SZT2):c.8020T>C (p.Leu2674=)
|
rs187106999
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_002087.4(GRN):c.228C>T (p.Thr76=)
|
rs144736470
|
0.00086
|
NM_003977.4(AIP):c.-84C>G
|
rs540839310
|
0.00086
|
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=)
|
rs142030960
|
0.00086
|
NM_004408.4(DNM1):c.747C>T (p.Thr249=)
|
rs141651183
|
0.00086
|
NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu)
|
rs202216051
|
0.00086
|
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg)
|
rs142423043
|
0.00086
|
NM_015474.4(SAMHD1):c.275+8T>A
|
rs186225001
|
0.00086
|
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn)
|
rs61056448
|
0.00086
|
NM_032581.4(HYCC1):c.582C>T (p.Tyr194=)
|
rs148453182
|
0.00086
|
NM_032737.4(LMNB2):c.1483-11G>A
|
rs191041189
|
0.00086
|
NM_152309.3(PIK3AP1):c.549G>A (p.Pro183=)
|
rs139678848
|
0.00086
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=)
|
rs112837367
|
0.00085
|
NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=)
|
rs115927746
|
0.00085
|
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=)
|
rs146488512
|
0.00085
|
NM_001776.6(ENTPD1):c.1020C>T (p.Tyr340=)
|
rs149326648
|
0.00085
|
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=)
|
rs11228414
|
0.00085
|
NM_002693.3(POLG):c.2165G>A (p.Arg722His)
|
rs185645212
|
0.00085
|
NM_003384.3(VRK1):c.286+12A>G
|
rs376603491
|
0.00085
|
NM_003977.4(AIP):c.301G>A (p.Val101Met)
|
rs147931650
|
0.00085
|
NM_004519.4(KCNQ3):c.*2876C>G
|
rs572963665
|
0.00085
|
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=)
|
rs200003914
|
0.00085
|
NM_007375.4(TARDBP):c.544-17C>T
|
rs117557248
|
0.00085
|
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His)
|
rs145477274
|
0.00085
|
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)
|
rs35173587
|
0.00085
|
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)
|
rs151317312
|
0.00084
|
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)
|
rs79137415
|
0.00084
|
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)
|
rs144874997
|
0.00084
|
NM_001429.4(EP300):c.4779+18A>G
|
rs146245982
|
0.00084
|
NM_002693.3(POLG):c.145C>G (p.Gln49Glu)
|
rs200132079
|
0.00084
|
NM_014053.4(FLVCR1):c.*279T>C
|
rs17019875
|
0.00084
|
NM_014363.6(SACS):c.1917A>G (p.Ala639=)
|
rs138457742
|
0.00084
|
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)
|
rs146673563
|
0.00084
|
NM_014855.3(AP5Z1):c.1434G>A (p.Ala478=)
|
rs75185826
|
0.00084
|
NM_018122.5(DARS2):c.128-5T>A
|
rs200078808
|
0.00084
|
NM_018325.5(C9orf72):c.*1024A>G
|
rs563194682
|
0.00084
|
NM_000702.4(ATP1A2):c.2709+11C>T
|
rs115441094
|
0.00083
|
NM_001003800.2(BICD2):c.240+20C>A
|
rs556051421
|
0.00083
|
NM_001110792.2(MECP2):c.*554G>A
|
rs267608353
|
0.00083
|
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)
|
rs149153003
|
0.00083
|
NM_001199107.2(TBC1D24):c.*385C>T
|
rs185077219
|
0.00083
|
NM_001330723.2(SNX27):c.986-20G>C
|
rs199670160
|
0.00083
|
NM_001351169.2(NT5C2):c.1077A>G (p.Lys359=)
|
rs141391492
|
0.00083
|
NM_001367561.1(DOCK7):c.4119+18C>T
|
rs368702983
|
0.00083
|
NM_001367561.1(DOCK7):c.480T>C (p.Ser160=)
|
rs142535471
|
0.00083
|
NM_001429.4(EP300):c.2998-14dup
|
rs560058125
|
0.00083
|
NM_001429.4(EP300):c.3143-9T>C
|
rs199773872
|
0.00083
|
NM_002335.4(LRP5):c.2544G>A (p.Pro848=)
|
rs148271293
|
0.00083
|
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn)
|
rs61736899
|
0.00083
|
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro)
|
rs143245740
|
0.00083
|
NM_003719.5(PDE8B):c.*439C>T
|
rs564968394
|
0.00083
|
NM_004586.3(RPS6KA3):c.244-5T>C
|
rs192189478
|
0.00083
|
NM_005154.5(USP8):c.1464G>A (p.Glu488=)
|
rs142653887
|
0.00083
|
NM_005866.4(SIGMAR1):c.151+15G>A
|
rs368822102
|
0.00083
|
NM_006516.4(SLC2A1):c.*571C>T
|
rs6413524
|
0.00083
|
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu)
|
rs200351209
|
0.00083
|
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala)
|
rs201401760
|
0.00083
|
NM_014249.4(NR2E3):c.900G>A (p.Thr300=)
|
rs184906734
|
0.00083
|
NM_014334.4(FRRS1L):c.79G>T (p.Ala27Ser)
|
rs769158433
|
0.00083
|
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=)
|
rs140523354
|
0.00083
|
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)
|
rs200461412
|
0.00083
|
NM_018026.4(PACS1):c.2581C>T (p.Leu861=)
|
rs201326960
|
0.00083
|
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser)
|
rs148402819
|
0.00083
|
NM_020822.3(KCNT1):c.2842-15C>T
|
rs372262576
|
0.00083
|
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=)
|
rs57260464
|
0.00083
|
NM_021098.3(CACNA1H):c.2451+20C>T
|
rs144765479
|
0.00083
|
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=)
|
rs144951661
|
0.00083
|
NM_139318.5(KCNH5):c.351A>G (p.Glu117=)
|
rs116027402
|
0.00083
|
NM_182961.4(SYNE1):c.10145+16G>A
|
rs150983931
|
0.00083
|
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=)
|
rs61737042
|
0.00082
|
NM_000925.4(PDHB):c.288T>C (p.Ala96=)
|
rs138128142
|
0.00082
|
NM_001037.5(SCN1B):c.351C>T (p.Gly117=)
|
rs3746255
|
0.00082
|
NM_001127222.2(CACNA1A):c.5840-14G>A
|
rs184658006
|
0.00082
|
NM_001242896.3(DEPDC5):c.1615C>G (p.His539Asp)
|
rs193042481
|
0.00082
|
NM_004722.4(AP4M1):c.975-16C>G
|
rs202052188
|
0.00082
|
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=)
|
rs150153477
|
0.00082
|
NM_006772.3(SYNGAP1):c.3297T>C (p.Tyr1099=)
|
rs149016890
|
0.00082
|
NM_018718.3(CEP41):c.*3856C>T
|
rs187532705
|
0.00082
|
NM_022168.4(IFIH1):c.1642-19G>A
|
rs189341467
|
0.00082
|
NM_139318.5(KCNH5):c.1098A>G (p.Ile366Met)
|
rs146883958
|
0.00082
|
NM_000484.4(APP):c.2212-10T>C
|
rs45513597
|
0.00081
|
NM_000702.4(ATP1A2):c.2563+4C>T
|
rs3747626
|
0.00081
|
NM_000834.5(GRIN2B):c.1569C>T (p.Val523=)
|
rs148573953
|
0.00081
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)
|
rs61753012
|
0.00081
|
NM_001288705.3(CSF1R):c.192C>T (p.Gly64=)
|
rs56282370
|
0.00081
|
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly)
|
rs149841055
|
0.00081
|
NM_003042.4(SLC6A1):c.1079-14A>G
|
rs146962789
|
0.00081
|
NM_003719.5(PDE8B):c.2622A>G (p.Leu874=)
|
rs61735409
|
0.00081
|
NM_004960.4(FUS):c.-47G>A
|
rs72550864
|
0.00081
|
NM_006030.4(CACNA2D2):c.1701+11C>T
|
rs199734682
|
0.00081
|
NM_006267.5(RANBP2):c.6270G>A (p.Thr2090=)
|
rs138191683
|
0.00081
|
NM_006516.4(SLC2A1):c.*22G>A
|
rs2229683
|
0.00081
|
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)
|
rs2236574
|
0.00081
|
NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=)
|
rs143041800
|
0.00081
|
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala)
|
rs117911920
|
0.00081
|
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=)
|
rs140628824
|
0.00081
|
NM_032776.3(JMJD1C):c.6571-15T>C
|
rs375459573
|
0.00081
|
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=)
|
rs62641669
|
0.00081
|
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=)
|
rs138528119
|
0.00081
|
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr)
|
rs146521598
|
0.00080
|
NM_001110556.2(FLNA):c.3805+16G>A
|
rs201016252
|
0.00080
|
NM_001110792.2(MECP2):c.*9G>A
|
rs144008995
|
0.00080
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_001382391.1(CSPP1):c.2539-12T>A
|
rs185726462
|
0.00080
|
NM_001382391.1(CSPP1):c.924-11G>A
|
rs149756527
|
0.00080
|
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser)
|
rs142933317
|
0.00080
|
NM_005045.4(RELN):c.4182A>G (p.Ser1394=)
|
rs147496823
|
0.00080
|
NM_005097.4(LGI1):c.1A>G (p.Met1Val)
|
rs202204627
|
0.00080
|
NM_014467.3(SRPX2):c.918T>C (p.Cys306=)
|
rs34728871
|
0.00080
|
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=)
|
rs145715326
|
0.00080
|
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=)
|
rs143654828
|
0.00080
|
NM_021098.3(CACNA1H):c.3276A>T (p.Pro1092=)
|
rs200569619
|
0.00080
|
NM_032776.3(JMJD1C):c.1910A>G (p.Lys637Arg)
|
rs117647164
|
0.00080
|
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=)
|
rs113909283
|
0.00080
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala)
|
rs144094215
|
0.00080
|
NM_000287.4(PEX6):c.1491C>T (p.Ser497=)
|
rs79238506
|
0.00079
|
NM_001205293.3(CACNA1E):c.3837C>T (p.Phe1279=)
|
rs41315709
|
0.00079
|
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=)
|
rs148495641
|
0.00079
|
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=)
|
rs146987351
|
0.00079
|
NM_006279.5(ST3GAL3):c.822A>G (p.Pro274=)
|
rs199852949
|
0.00079
|
NM_012338.4(TSPAN12):c.367G>C (p.Val123Leu)
|
rs145676655
|
0.00079
|
NM_014043.4(CHMP2B):c.*864G>A
|
rs181777395
|
0.00079
|
NM_014846.4(WASHC5):c.-178T>C
|
rs370705310
|
0.00079
|
NM_014846.4(WASHC5):c.732G>A (p.Pro244=)
|
rs146320386
|
0.00079
|
NM_015338.6(ASXL1):c.1520T>A (p.Ile507Asn)
|
rs138971201
|
0.00079
|
NM_018206.6(VPS35):c.*422C>A
|
rs181198454
|
0.00079
|
NM_025219.3(DNAJC5):c.*4006C>T
|
rs138866062
|
0.00079
|
NM_145725.3(TRAF3):c.449G>A (p.Arg150His)
|
rs141920055
|
0.00079
|
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=)
|
rs146425236
|
0.00079
|
NM_001003800.2(BICD2):c.72C>G (p.Ala24=)
|
rs545512590
|
0.00078
|
NM_001032221.6(STXBP1):c.6C>T (p.Ala2=)
|
rs144094037
|
0.00078
|
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu)
|
rs11547811
|
0.00078
|
NM_001127222.2(CACNA1A):c.5400+15A>C
|
rs373246283
|
0.00078
|
NM_001130438.3(SPTAN1):c.6960-8T>C
|
rs140241053
|
0.00078
|
NM_001145.4(ANG):c.-423C>T
|
rs149147430
|
0.00078
|
NM_001165963.4(SCN1A):c.5571G>A (p.Val1857=)
|
rs142019382
|
0.00078
|
NM_001256864.2(DNAJC6):c.1266A>T (p.Leu422=)
|
rs61758427
|
0.00078
|
NM_001271.4(CHD2):c.960A>T (p.Thr320=)
|
rs149632554
|
0.00078
|
NM_001363118.2(SLC52A2):c.1066C>T (p.Leu356=)
|
rs138107380
|
0.00078
|
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=)
|
rs113368815
|
0.00078
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_002857.4(PEX19):c.564G>A (p.Leu188=)
|
rs149058086
|
0.00078
|
NM_003719.5(PDE8B):c.672G>A (p.Ala224=)
|
rs138641918
|
0.00078
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
NM_006279.5(ST3GAL3):c.745-13G>A
|
rs199593585
|
0.00078
|
NM_007327.4(GRIN1):c.570+10G>A
|
rs200924771
|
0.00078
|
NM_014795.4(ZEB2):c.798G>C (p.Gly266=)
|
rs34961586
|
0.00078
|
NM_016373.4(WWOX):c.107+18G>A
|
rs146301453
|
0.00078
|
NM_022168.4(IFIH1):c.623-19C>G
|
rs371045477
|
0.00078
|
NM_052874.5(STX1B):c.786+7G>A
|
rs201785193
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_182961.4(SYNE1):c.8238G>A (p.Glu2746=)
|
rs139838755
|
0.00078
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)
|
rs141862527
|
0.00077
|
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=)
|
rs375273015
|
0.00077
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=)
|
rs140402012
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_001931.5(DLAT):c.506+11C>T
|
rs77846695
|
0.00077
|
NM_002361.4(MAG):c.966C>T (p.Val322=)
|
rs147226896
|
0.00077
|
NM_003042.4(SLC6A1):c.953+19G>A
|
rs113968319
|
0.00077
|
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)
|
rs138545772
|
0.00077
|
NM_004984.4(KIF5A):c.2199-4G>A
|
rs201366820
|
0.00077
|
NM_012281.3(KCND2):c.1116-11C>A
|
rs189173379
|
0.00077
|
NM_021098.3(CACNA1H):c.3744+17G>A
|
rs187187164
|
0.00077
|
NM_021625.5(TRPV4):c.*190C>T
|
rs141636597
|
0.00077
|
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=)
|
rs6054602
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_173354.5(SIK1):c.624+15C>T
|
rs139467241
|
0.00077
|
NM_000702.4(ATP1A2):c.178-21C>T
|
rs199660548
|
0.00076
|
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=)
|
rs143765389
|
0.00076
|
NM_001110556.2(FLNA):c.720+12C>T
|
rs367894653
|
0.00076
|
NM_001134407.3(GRIN2A):c.669C>T (p.His223=)
|
rs138117658
|
0.00076
|
NM_001244008.2(KIF1A):c.3749+13G>T
|
rs373544465
|
0.00076
|
NM_001256864.2(DNAJC6):c.2451T>G (p.Pro817=)
|
rs61733018
|
0.00076
|
NM_001323289.2(CDKL5):c.2046+12del
|
rs766762463
|
0.00076
|
NM_001347721.2(DYRK1A):c.1071+15G>A
|
rs374505179
|
0.00076
|
NM_001365536.1(SCN9A):c.688+9T>C
|
rs188814235
|
0.00076
|
NM_001382391.1(CSPP1):c.3470-20G>T
|
rs148896413
|
0.00076
|
NM_002778.4(PSAP):c.714C>G (p.Ala238=)
|
rs141199649
|
0.00076
|
NM_003719.5(PDE8B):c.*1575G>A
|
rs146195825
|
0.00076
|
NM_004168.4(SDHA):c.1260+13G>T
|
rs185239026
|
0.00076
|
NM_004408.4(DNM1):c.2540C>T (p.Ser847Leu)
|
rs199498658
|
0.00076
|
NM_004974.4(KCNA2):c.213C>T (p.Pro71=)
|
rs116111724
|
0.00076
|
NM_005027.4(PIK3R2):c.1416+15G>A
|
rs202218011
|
0.00076
|
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=)
|
rs144160012
|
0.00076
|
NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser)
|
rs536658556
|
0.00076
|
NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=)
|
rs144721281
|
0.00076
|
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg)
|
rs140197482
|
0.00076
|
NM_016373.4(WWOX):c.410-4A>T
|
rs183410581
|
0.00076
|
NM_020988.3(GNAO1):c.724-9C>T
|
rs377145312
|
0.00076
|
NM_025219.3(DNAJC5):c.*4065G>A
|
rs373099874
|
0.00076
|
NM_173354.5(SIK1):c.1077C>T (p.Ala359=)
|
rs149713367
|
0.00076
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)
|
rs45624939
|
0.00075
|
NM_001371596.2(MFSD8):c.*1515T>A
|
rs74590222
|
0.00075
|
NM_002618.4(PEX13):c.141A>G (p.Ala47=)
|
rs79842991
|
0.00075
|
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)
|
rs144252500
|
0.00075
|
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala)
|
rs145887263
|
0.00075
|
NM_004960.4(FUS):c.1464C>T (p.Gly488=)
|
rs150529460
|
0.00075
|
NM_005097.4(LGI1):c.600C>T (p.Cys200=)
|
rs148862146
|
0.00075
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00075
|
NM_005359.6(SMAD4):c.*2914C>T
|
rs147352474
|
0.00075
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
NM_020944.3(GBA2):c.1358C>A (p.Ala453Glu)
|
rs78197987
|
0.00075
|
NM_152309.3(PIK3AP1):c.387G>A (p.Glu129=)
|
rs149682608
|
0.00075
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_001371928.1(AHDC1):c.726C>T (p.Ala242=)
|
rs142598186
|
0.00074
|
NM_020822.3(KCNT1):c.1619+18C>T
|
rs183348093
|
0.00074
|
NM_025219.3(DNAJC5):c.107+12A>G
|
rs372843187
|
0.00074
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)
|
rs63750197
|
0.00073
|
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=)
|
rs143536618
|
0.00073
|
NM_001010867.4(IBA57):c.210G>C (p.Leu70=)
|
rs199589485
|
0.00073
|
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys)
|
rs202109957
|
0.00073
|
NM_001110792.2(MECP2):c.*487G>C
|
rs267608325
|
0.00073
|
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser)
|
rs61735306
|
0.00073
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)
|
rs144016130
|
0.00073
|
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=)
|
rs149579028
|
0.00073
|
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
|
rs121917956
|
0.00073
|
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=)
|
rs138072045
|
0.00073
|
NM_001371928.1(AHDC1):c.489A>G (p.Leu163=)
|
rs142502245
|
0.00073
|
NM_003070.5(SMARCA2):c.4440G>A (p.Thr1480=)
|
rs184913034
|
0.00073
|
NM_003265.3(TLR3):c.1284T>G (p.Ser428=)
|
rs148445556
|
0.00073
|
NM_003900.5(SQSTM1):c.888G>A (p.Pro296=)
|
rs148984239
|
0.00073
|
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp)
|
rs150107747
|
0.00073
|
NM_004738.5(VAPB):c.*2224C>T
|
rs189009703
|
0.00073
|
NM_004974.4(KCNA2):c.807C>T (p.Thr269=)
|
rs146036196
|
0.00073
|
NM_005573.4(LMNB1):c.*15T>C
|
rs140296800
|
0.00073
|
NM_005629.4(SLC6A8):c.603C>T (p.Asp201=)
|
rs143019641
|
0.00073
|
NM_007375.4(TARDBP):c.*343G>A
|
rs555353123
|
0.00073
|
NM_012193.4(FZD4):c.*3639A>G
|
rs577322047
|
0.00073
|
NM_014855.3(AP5Z1):c.1312-19C>T
|
rs186277796
|
0.00073
|
NM_015192.4(PLCB1):c.246+12A>G
|
rs200984500
|
0.00073
|
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=)
|
rs57606792
|
0.00073
|
NM_021098.3(CACNA1H):c.804-8A>G
|
rs367708036
|
0.00073
|
NM_025219.3(DNAJC5):c.*2039C>T
|
rs79245733
|
0.00073
|
NM_152296.5(ATP1A3):c.*315G>A
|
rs571857150
|
0.00073
|
NM_152309.3(PIK3AP1):c.1806G>A (p.Thr602=)
|
rs147512410
|
0.00073
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=)
|
rs3734366
|
0.00073
|
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)
|
rs113962905
|
0.00073
|
NM_198859.4(PRICKLE2):c.145-4T>G
|
rs375489210
|
0.00073
|
NM_000481.4(AMT):c.354G>A (p.Leu118=)
|
rs145194293
|
0.00072
|
NM_001083614.2(EARS2):c.*1233C>T
|
rs118168979
|
0.00072
|
NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=)
|
rs375018770
|
0.00072
|
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr)
|
rs145714752
|
0.00072
|
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)
|
rs146630369
|
0.00072
|
NM_005051.3(QARS1):c.2064G>A (p.Glu688=)
|
rs144316335
|
0.00072
|
NM_014271.4(IL1RAPL1):c.-20C>T
|
rs200878713
|
0.00072
|
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935
|
0.00072
|
NM_018129.4(PNPO):c.*341T>C
|
rs78358763
|
0.00072
|
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=)
|
rs200542719
|
0.00072
|
NM_021098.3(CACNA1H):c.5244+17C>T
|
rs201348517
|
0.00072
|
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)
|
rs547860186
|
0.00072
|
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=)
|
rs151229044
|
0.00072
|
NM_173728.4(ARHGEF15):c.1260+4G>A
|
rs199691980
|
0.00072
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_001130823.3(DNMT1):c.2382-15G>A
|
rs111694626
|
0.00071
|
NM_001134407.3(GRIN2A):c.*1684A>C
|
rs117255813
|
0.00071
|
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=)
|
rs370427146
|
0.00071
|
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr)
|
rs147784000
|
0.00071
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_002180.3(IGHMBP2):c.1418+11C>T
|
rs201279838
|
0.00071
|
NM_003659.4(AGPS):c.*3045C>T
|
rs147676340
|
0.00071
|
NM_004385.5(VCAN):c.*18A>G
|
rs187567161
|
0.00071
|
NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr)
|
rs146560021
|
0.00071
|
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn)
|
rs148509350
|
0.00071
|
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)
|
rs377035512
|
0.00071
|
NM_006267.5(RANBP2):c.2520T>C (p.Arg840=)
|
rs150539591
|
0.00071
|
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=)
|
rs145694123
|
0.00071
|
NM_007254.4(PNKP):c.501G>A (p.Val167=)
|
rs142143566
|
0.00071
|
NM_013275.6(ANKRD11):c.1027G>A (p.Val343Ile)
|
rs147744268
|
0.00071
|
NM_015166.4(MLC1):c.627C>T (p.Ala209=)
|
rs138153307
|
0.00071
|
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
NM_025219.3(DNAJC5):c.*3413A>G
|
rs150408300
|
0.00071
|
NM_033064.5(ATCAY):c.-241C>T
|
rs376727951
|
0.00071
|
NM_152309.3(PIK3AP1):c.471C>T (p.Asp157=)
|
rs117500254
|
0.00071
|
NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser)
|
rs149755754
|
0.00071
|
NM_173354.5(SIK1):c.1744+10G>A
|
rs376512810
|
0.00071
|
NM_182961.4(SYNE1):c.4008+19G>A
|
rs202076757
|
0.00071
|
NM_000834.5(GRIN2B):c.228C>T (p.Thr76=)
|
rs77299791
|
0.00070
|
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met)
|
rs61749720
|
0.00070
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_001172509.2(SATB2):c.210C>T (p.Asp70=)
|
rs34311963
|
0.00070
|
NM_001371279.1(REEP1):c.231G>A (p.Leu77=)
|
rs139808535
|
0.00070
|
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)
|
rs146242251
|
0.00070
|
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser)
|
rs145958900
|
0.00070
|
NM_004380.3(CREBBP):c.1216+20C>A
|
rs200567815
|
0.00070
|
NM_004380.3(CREBBP):c.3698+7G>A
|
rs374345970
|
0.00070
|
NM_005359.6(SMAD4):c.*6009G>C
|
rs181250637
|
0.00070
|
NM_005629.4(SLC6A8):c.1142-19G>A
|
rs77129489
|
0.00070
|
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)
|
rs13306758
|
0.00070
|
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln)
|
rs149776253
|
0.00070
|
NM_015346.4(ZFYVE26):c.273+13A>G
|
rs150070634
|
0.00070
|
NM_018082.6(POLR3B):c.-106A>G
|
rs560914710
|
0.00070
|
NM_018834.6(MATR3):c.*769G>A
|
rs561705958
|
0.00070
|
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)
|
rs138039591
|
0.00069
|
NM_000484.4(APP):c.1305C>T (p.Phe435=)
|
rs148180403
|
0.00069
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=)
|
rs140417984
|
0.00069
|
NM_001110556.2(FLNA):c.753C>T (p.Asn251=)
|
rs377507152
|
0.00069
|
NM_001127222.2(CACNA1A):c.1083-4C>G
|
rs201056216
|
0.00069
|
NM_001130438.3(SPTAN1):c.930+17G>A
|
rs117436936
|
0.00069
|
NM_001160148.2(DDHD1):c.882C>T (p.Asp294=)
|
rs147569085
|
0.00069
|
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys)
|
rs55790011
|
0.00069
|
NM_005149.3(TBX19):c.204-3T>C
|
rs200043223
|
0.00069
|
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)
|
rs149605021
|
0.00069
|
NM_012338.4(TSPAN12):c.*998G>A
|
rs182626886
|
0.00069
|
NM_015338.6(ASXL1):c.1898A>G (p.His633Arg)
|
rs201280462
|
0.00069
|
NM_144599.5(NIPA1):c.*1724C>G
|
rs61523596
|
0.00069
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_000744.7(CHRNA4):c.1524C>T (p.Gly508=)
|
rs56069517
|
0.00068
|
NM_000834.5(GRIN2B):c.1780+8C>T
|
rs199986080
|
0.00068
|
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=)
|
rs6706924
|
0.00068
|
NM_001134407.3(GRIN2A):c.*8753T>C
|
rs182174522
|
0.00068
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=)
|
rs182225778
|
0.00068
|
NM_001271.4(CHD2):c.2577+19T>C
|
rs193089255
|
0.00068
|
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
|
rs377637314
|
0.00068
|
NM_001429.4(EP300):c.4599C>G (p.Thr1533=)
|
rs143885808
|
0.00068
|
NM_001429.4(EP300):c.5271C>T (p.Ser1757=)
|
rs138917060
|
0.00068
|
NM_003070.5(SMARCA2):c.4699G>C (p.Val1567Leu)
|
rs144110632
|
0.00068
|
NM_003477.3(PDHX):c.-23C>A
|
rs201033364
|
0.00068
|
NM_005334.3(HCFC1):c.503+14C>G
|
rs371163886
|
0.00068
|
NM_006015.6(ARID1A):c.162C>T (p.Ala54=)
|
rs1001634270
|
0.00068
|
NM_013275.6(ANKRD11):c.1842C>T (p.Ser614=)
|
rs764479350
|
0.00068
|
NM_015915.5(ATL1):c.30T>C (p.Ser10=)
|
rs146613929
|
0.00068
|
NM_020822.3(KCNT1):c.3503-18C>T
|
rs373901872
|
0.00068
|
NM_020822.3(KCNT1):c.601-13C>G
|
rs202113794
|
0.00068
|
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=)
|
rs371026871
|
0.00068
|
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His)
|
rs200228767
|
0.00068
|
NM_022168.4(IFIH1):c.2898+17G>A
|
rs145381408
|
0.00068
|
NM_024306.5(FA2H):c.537G>A (p.Leu179=)
|
rs75711361
|
0.00068
|
NM_052874.5(STX1B):c.538-5C>G
|
rs145815305
|
0.00068
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_203446.3(SYNJ1):c.*732C>T
|
rs148676465
|
0.00068
|
NM_000033.4(ABCD1):c.-202C>G
|
rs781978041
|
0.00067
|
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
NM_001110556.2(FLNA):c.4142+5_4142+14dup
|
rs782735723
|
0.00067
|
NM_001130438.3(SPTAN1):c.5478+12G>A
|
rs41275900
|
0.00067
|
NM_001130438.3(SPTAN1):c.7309-15T>C
|
rs370705867
|
0.00067
|
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=)
|
rs45484792
|
0.00067
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
NM_001172509.2(SATB2):c.2121C>T (p.Ser707=)
|
rs141424911
|
0.00067
|
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln)
|
rs149168939
|
0.00067
|
NM_001365088.1(SLC12A6):c.1752A>C (p.Gly584=)
|
rs186888172
|
0.00067
|
NM_001371928.1(AHDC1):c.480C>T (p.Pro160=)
|
rs147707628
|
0.00067
|
NM_001374828.1(ARID1B):c.3072G>C (p.Ala1024=)
|
rs148749268
|
0.00067
|
NM_003334.4(UBA1):c.648A>G (p.Pro216=)
|
rs146676571
|
0.00067
|
NM_004738.4(VAPB):c.-292G>C
|
rs2234484
|
0.00067
|
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val)
|
rs139191491
|
0.00067
|
NM_016373.4(WWOX):c.807C>T (p.Asn269=)
|
rs62034095
|
0.00067
|
NM_020699.4(GATAD2B):c.852T>C (p.Leu284=)
|
rs149608942
|
0.00067
|
NM_144599.5(NIPA1):c.*4774G>A
|
rs541776619
|
0.00067
|
NM_152743.4(BRAT1):c.825C>T (p.Ser275=)
|
rs141320181
|
0.00067
|
NM_173354.5(SIK1):c.2049G>A (p.Pro683=)
|
rs373872652
|
0.00067
|
NM_198904.4(GABRG2):c.798T>C (p.Phe266=)
|
rs115126975
|
0.00067
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_000368.5(TSC1):c.*358C>T
|
rs147729052
|
0.00066
|
NM_000466.3(PEX1):c.645C>G (p.Thr215=)
|
rs151041559
|
0.00066
|
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
NM_001040142.2(SCN2A):c.386+17C>T
|
rs201918346
|
0.00066
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00066
|
NM_001127644.2(GABRA1):c.255+12C>T
|
rs144727170
|
0.00066
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)
|
rs138101005
|
0.00066
|
NM_001130438.3(SPTAN1):c.2778+20G>A
|
rs201463905
|
0.00066
|
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)
|
rs150999369
|
0.00066
|
NM_001257180.2(SLC20A2):c.*926C>T
|
rs575143642
|
0.00066
|
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=)
|
rs61757106
|
0.00066
|
NM_002087.4(GRN):c.708+8A>T
|
rs370878457
|
0.00066
|
NM_003072.5(SMARCA4):c.223-5C>T
|
rs376775933
|
0.00066
|
NM_003079.5(SMARCE1):c.1101G>A (p.Lys367=)
|
rs148666451
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_003659.4(AGPS):c.*865A>G
|
rs2293470
|
0.00066
|
NM_004385.5(VCAN):c.854C>T (p.Ala285Val)
|
rs144939909
|
0.00066
|
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser)
|
rs192913494
|
0.00066
|
NM_004565.3(PEX14):c.1116C>T (p.Asn372=)
|
rs149856184
|
0.00066
|
NM_005149.3(TBX19):c.*1234C>T
|
rs149712948
|
0.00066
|
NM_006612.6(KIF1C):c.940+17C>A
|
rs74985014
|
0.00066
|
NM_014271.4(IL1RAPL1):c.83-6C>T
|
rs180930821
|
0.00066
|
NM_018026.4(PACS1):c.1731+18G>A
|
rs560600114
|
0.00066
|
NM_021098.3(CACNA1H):c.6048+18C>A
|
rs72552057
|
0.00066
|
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)
|
rs139887370
|
0.00066
|
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)
|
rs144141585
|
0.00066
|
NM_052874.5(STX1B):c.837G>A (p.Ala279=)
|
rs150313069
|
0.00066
|
NM_198578.4(LRRK2):c.2322G>A (p.Ala774=)
|
rs146103273
|
0.00066
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)
|
rs372260338
|
0.00065
|
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=)
|
rs186619828
|
0.00065
|
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=)
|
rs200835571
|
0.00065
|
NM_001172509.2(SATB2):c.195C>T (p.Val65=)
|
rs147613731
|
0.00065
|
NM_001347721.2(DYRK1A):c.1213-7C>T
|
rs199867876
|
0.00065
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
NM_007327.4(GRIN1):c.1632+14G>A
|
rs200337681
|
0.00065
|
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)
|
rs200280538
|
0.00065
|
NM_015915.5(ATL1):c.*450A>G
|
rs183817549
|
0.00065
|
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=)
|
rs57468015
|
0.00065
|
NM_024665.7(TBL1XR1):c.1251-8T>A
|
rs148654942
|
0.00065
|
NM_025136.4(OPA3):c.*698G>A
|
rs561748985
|
0.00065
|
NM_139318.5(KCNH5):c.2826G>C (p.Leu942=)
|
rs150366779
|
0.00065
|
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=)
|
rs141421692
|
0.00065
|
NM_152415.3(VPS37A):c.1176A>G (p.Gln392=)
|
rs117336150
|
0.00065
|
NM_000744.7(CHRNA4):c.258C>T (p.Asn86=)
|
rs140239470
|
0.00064
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=)
|
rs371116746
|
0.00064
|
NM_001367561.1(DOCK7):c.2859+17dup
|
rs559908969
|
0.00064
|
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=)
|
rs184815562
|
0.00064
|
NM_001492.6(GDF1):c.-894A>G
|
rs200107216
|
0.00064
|
NM_002397.5(MEF2C):c.811-12G>A
|
rs149706617
|
0.00064
|
NM_003977.4(AIP):c.-23A>G
|
rs200665479
|
0.00064
|
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=)
|
rs149560660
|
0.00064
|
NM_004738.5(VAPB):c.*2766C>T
|
rs6128346
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)
|
rs144947610
|
0.00064
|
NM_013275.6(ANKRD11):c.2292G>A (p.Glu764=)
|
rs149626938
|
0.00064
|
NM_016219.5(MAN1B1):c.1765-17C>T
|
rs569907992
|
0.00064
|
NM_000033.4(ABCD1):c.*985C>G
|
rs782309410
|
0.00063
|
NM_000096.4(CP):c.2878+14T>C
|
rs75520320
|
0.00063
|
NM_000742.4(CHRNA2):c.*771C>T
|
rs572058986
|
0.00063
|
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=)
|
rs138771137
|
0.00063
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00063
|
NM_001040142.2(SCN2A):c.2389-18A>C
|
rs376273827
|
0.00063
|
NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His)
|
rs139808176
|
0.00063
|
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)
|
rs138232280
|
0.00063
|
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)
|
rs374780430
|
0.00063
|
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=)
|
rs142197878
|
0.00063
|
NM_001257180.2(SLC20A2):c.290-5T>C
|
rs371924916
|
0.00063
|
NM_001365088.1(SLC12A6):c.528A>G (p.Lys176=)
|
rs150922818
|
0.00063
|
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=)
|
rs144359313
|
0.00063
|
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=)
|
rs199960483
|
0.00063
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
NM_002047.4(GARS1):c.699C>T (p.Val233=)
|
rs187937286
|
0.00063
|
NM_003619.4(PRSS12):c.2535C>T (p.Ser845=)
|
rs145964630
|
0.00063
|
NM_004380.3(CREBBP):c.4133+9G>A
|
rs376602227
|
0.00063
|
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met)
|
rs368279501
|
0.00063
|
NM_005629.4(SLC6A8):c.777+4C>T
|
rs201581661
|
0.00063
|
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile)
|
rs1805025
|
0.00063
|
NM_014844.5(TECPR2):c.1833A>G (p.Thr611=)
|
rs147716085
|
0.00063
|
NM_015166.4(MLC1):c.601G>A (p.Val201Ile)
|
rs147572634
|
0.00063
|
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)
|
rs140817689
|
0.00063
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_021098.3(CACNA1H):c.3364-14C>A
|
rs372807603
|
0.00063
|
NM_021098.3(CACNA1H):c.3645C>T (p.Arg1215=)
|
rs371762447
|
0.00063
|
NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=)
|
rs374421144
|
0.00063
|
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)
|
rs142415050
|
0.00063
|
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)
|
rs141057568
|
0.00063
|
NM_198904.4(GABRG2):c.259+20G>A
|
rs200011382
|
0.00063
|
NM_001110556.2(FLNA):c.651C>T (p.Asp217=)
|
rs34644500
|
0.00062
|
NM_001110792.2(MECP2):c.*371G>C
|
rs187851059
|
0.00062
|
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys)
|
rs781984542
|
0.00062
|
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=)
|
rs145101180
|
0.00062
|
NM_001429.4(EP300):c.94+13A>G
|
rs201124490
|
0.00062
|
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)
|
rs150549628
|
0.00062
|
NM_005045.4(RELN):c.5615-12T>C
|
rs375680075
|
0.00062
|
NM_005249.5(FOXG1):c.489C>T (p.Gly163=)
|
rs375378714
|
0.00062
|
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=)
|
rs149964599
|
0.00062
|
NM_025243.4(SLC19A3):c.*1800C>T
|
rs144735324
|
0.00062
|
NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val)
|
rs117864472
|
0.00062
|
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869
|
0.00061
|
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln)
|
rs138506576
|
0.00061
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
NM_000284.4(PDHA1):c.97G>C (p.Asp33His)
|
rs150318528
|
0.00061
|
NM_001003800.2(BICD2):c.2397C>T (p.Leu799=)
|
rs151133287
|
0.00061
|
NM_001008212.2(OPTN):c.1148+13A>G
|
rs368654623
|
0.00061
|
NM_001077350.3(NPRL3):c.189-15C>G
|
rs183021938
|
0.00061
|
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=)
|
rs144435438
|
0.00061
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
NM_001130823.3(DNMT1):c.4656+9G>A
|
rs367724672
|
0.00061
|
NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=)
|
rs372607441
|
0.00061
|
NM_001329943.3(KIAA0586):c.1583+15G>A
|
rs201295491
|
0.00061
|
NM_001330260.2(SCN8A):c.2371-6A>G
|
rs187002252
|
0.00061
|
NM_001365536.1(SCN9A):c.2343+17G>A
|
rs141946142
|
0.00061
|
NM_001371928.1(AHDC1):c.1008C>A (p.Pro336=)
|
rs369467920
|
0.00061
|
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr)
|
rs200734000
|
0.00061
|
NM_002578.5(PAK3):c.483A>G (p.Ala161=)
|
rs146801179
|
0.00061
|
NM_003332.4(TYROBP):c.68G>A (p.Arg23His)
|
rs79272253
|
0.00061
|
NM_004082.5(DCTN1):c.1998G>A (p.Thr666=)
|
rs149900553
|
0.00061
|
NM_005359.6(SMAD4):c.*2361A>G
|
rs143842829
|
0.00061
|
NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=)
|
rs142429183
|
0.00061
|
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile)
|
rs140280672
|
0.00061
|
NM_006516.4(SLC2A1):c.275+17C>T
|
rs761669510
|
0.00061
|
NM_013254.4(TBK1):c.1189+10G>A
|
rs185457813
|
0.00061
|
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly)
|
rs199691161
|
0.00061
|
NM_013275.6(ANKRD11):c.6791C>T (p.Pro2264Leu)
|
rs565435346
|
0.00061
|
NM_018082.6(POLR3B):c.2084-15C>T
|
rs181026609
|
0.00061
|
NM_033305.3(VPS13A):c.6096-7C>T
|
rs190144287
|
0.00061
|
NM_139318.5(KCNH5):c.2652G>A (p.Pro884=)
|
rs143147156
|
0.00061
|
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)
|
rs146053862
|
0.00061
|
NM_177550.5(SLC13A5):c.232-11C>T
|
rs112805825
|
0.00061
|
NM_178013.4(PRIMA1):c.94-18G>A
|
rs138129679
|
0.00061
|
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)
|
rs144056525
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)
|
rs150526992
|
0.00060
|
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=)
|
rs374231091
|
0.00060
|
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
|
rs199917719
|
0.00060
|
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro)
|
rs149027201
|
0.00060
|
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=)
|
rs2274308
|
0.00060
|
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=)
|
rs199854716
|
0.00060
|
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=)
|
rs200608314
|
0.00060
|
NM_001350451.2(RBFOX3):c.552G>T (p.Gly184=)
|
rs375171072
|
0.00060
|
NM_001371928.1(AHDC1):c.4533G>A (p.Thr1511=)
|
rs139569820
|
0.00060
|
NM_003070.5(SMARCA2):c.4737+13G>A
|
rs149380449
|
0.00060
|
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=)
|
rs138814830
|
0.00060
|
NM_015338.6(ASXL1):c.3889G>A (p.Val1297Ile)
|
rs140137262
|
0.00060
|
NM_015915.5(ATL1):c.1200G>A (p.Lys400=)
|
rs144792471
|
0.00060
|
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=)
|
rs61736585
|
0.00060
|
NM_018082.6(POLR3B):c.399C>T (p.Ile133=)
|
rs147328031
|
0.00060
|
NM_022168.4(IFIH1):c.2784C>T (p.His928=)
|
rs145187664
|
0.00060
|
NM_138959.3(VANGL1):c.285C>T (p.Ile95=)
|
rs140451005
|
0.00060
|
NM_173354.5(SIK1):c.500-21_500-18del
|
rs375258010
|
0.00060
|
NM_000044.6(AR):c.1536G>A (p.Val512=)
|
rs150545747
|
0.00059
|
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=)
|
rs142595450
|
0.00059
|
NM_001110792.2(MECP2):c.*1237T>C
|
rs267608365
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198
|
0.00059
|
NM_001242896.3(DEPDC5):c.624+13_624+14del
|
rs777746872
|
0.00059
|
NM_001244008.2(KIF1A):c.618G>A (p.Ala206=)
|
rs137913879
|
0.00059
|
NM_001282531.3(ADNP):c.2317A>G (p.Lys773Glu)
|
rs140169338
|
0.00059
|
NM_001846.4(COL4A2):c.4256T>C (p.Met1419Thr)
|
rs191708663
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_002156.5(HSPD1):c.18A>G (p.Thr6=)
|
rs79630442
|
0.00059
|
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=)
|
rs56211557
|
0.00059
|
NM_004035.7(ACOX1):c.1478+13T>C
|
rs199908120
|
0.00059
|
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu)
|
rs146459055
|
0.00059
|
NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=)
|
rs145406441
|
0.00059
|
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=)
|
rs139841529
|
0.00059
|
NM_007254.4(PNKP):c.816+20C>T
|
rs372038893
|
0.00059
|
NM_007327.4(GRIN1):c.768G>C (p.Gly256=)
|
rs141473515
|
0.00059
|
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser)
|
rs142527333
|
0.00059
|
NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe)
|
rs140896392
|
0.00059
|
NM_015915.5(ATL1):c.669C>T (p.Tyr223=)
|
rs146975855
|
0.00059
|
NM_020822.3(KCNT1):c.1770-16C>T
|
rs192658955
|
0.00059
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
NM_000170.3(GLDC):c.936C>T (p.Ile312=)
|
rs79057118
|
0.00058
|
NM_000284.4(PDHA1):c.604-10C>T
|
rs201754585
|
0.00058
|
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=)
|
rs8192486
|
0.00058
|
NM_001003800.2(BICD2):c.1348C>T (p.Arg450Cys)
|
rs201997144
|
0.00058
|
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)
|
rs72558029
|
0.00058
|
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val)
|
rs369167525
|
0.00058
|
NM_001127222.2(CACNA1A):c.6527-19T>C
|
rs375949210
|
0.00058
|
NM_001130438.3(SPTAN1):c.6408G>C (p.Glu2136Asp)
|
rs199930602
|
0.00058
|
NM_001166114.2(PNPLA6):c.3914-11C>T
|
rs371325894
|
0.00058
|
NM_001288705.3(CSF1R):c.*774A>G
|
rs371174880
|
0.00058
|
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=)
|
rs201045619
|
0.00058
|
NM_001367561.1(DOCK7):c.4713C>T (p.His1571=)
|
rs149949352
|
0.00058
|
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val)
|
rs199948752
|
0.00058
|
NM_001482.3(GATM):c.*27C>G
|
rs200143728
|
0.00058
|
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)
|
rs35012272
|
0.00058
|
NM_002137.4(HNRNPA2B1):c.964+10A>G
|
rs181705411
|
0.00058
|
NM_003042.4(SLC6A1):c.1191+18G>A
|
rs373250372
|
0.00058
|
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=)
|
rs151212782
|
0.00058
|
NM_003719.5(PDE8B):c.2145G>A (p.Thr715=)
|
rs112049153
|
0.00058
|
NM_004519.4(KCNQ3):c.*1582C>T
|
rs140360332
|
0.00058
|
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=)
|
rs200399318
|
0.00058
|
NM_005573.4(LMNB1):c.60G>A (p.Thr20=)
|
rs755396585
|
0.00058
|
NM_006267.5(RANBP2):c.238G>A (p.Val80Ile)
|
rs140785381
|
0.00058
|
NM_013275.6(ANKRD11):c.227-10C>T
|
rs201226457
|
0.00058
|
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713
|
0.00058
|
NM_021098.3(CACNA1H):c.2229G>A (p.Thr743=)
|
rs111986908
|
0.00058
|
NM_021625.5(TRPV4):c.549G>A (p.Glu183=)
|
rs141908793
|
0.00058
|
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)
|
rs139019255
|
0.00058
|
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln)
|
rs201560745
|
0.00058
|
NM_025233.7(COASY):c.81C>T (p.Thr27=)
|
rs145723983
|
0.00058
|
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)
|
rs149600313
|
0.00058
|
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
|
rs34778348
|
0.00058
|
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu)
|
rs138758170
|
0.00057
|
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)
|
rs115160598
|
0.00057
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
NM_001371928.1(AHDC1):c.1608C>T (p.Pro536=)
|
rs143794200
|
0.00057
|
NM_001386393.1(PANK2):c.298+15G>C
|
rs566953264
|
0.00057
|
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)
|
rs148278350
|
0.00057
|
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)
|
rs143948239
|
0.00057
|
NM_005249.5(FOXG1):c.206C>A (p.Pro69Gln)
|
rs727503933
|
0.00057
|
NM_005629.4(SLC6A8):c.1597-19G>A
|
rs202118923
|
0.00057
|
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu)
|
rs138898373
|
0.00057
|
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)
|
rs74533482
|
0.00057
|
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)
|
rs200706696
|
0.00057
|
NM_000368.5(TSC1):c.*3448C>T
|
rs201092466
|
0.00056
|
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys)
|
rs139131007
|
0.00056
|
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=)
|
rs149960511
|
0.00056
|
NM_001130438.3(SPTAN1):c.786-17G>T
|
rs367832791
|
0.00056
|
NM_001134407.3(GRIN2A):c.*3220C>T
|
rs192984749
|
0.00056
|
NM_001253852.3(AP4B1):c.339-15G>A
|
rs529490243
|
0.00056
|
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)
|
rs149707354
|
0.00056
|
NM_001371928.1(AHDC1):c.4384A>C (p.Lys1462Gln)
|
rs145080672
|
0.00056
|
NM_001382391.1(CSPP1):c.1023-20del
|
rs550798896
|
0.00056
|
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg)
|
rs148246073
|
0.00056
|
NM_004960.4(FUS):c.198T>C (p.Tyr66=)
|
rs144853447
|
0.00056
|
NM_013275.6(ANKRD11):c.7311C>T (p.Pro2437=)
|
rs377547565
|
0.00056
|
NM_014053.4(FLVCR1):c.*2443C>T
|
rs117380165
|
0.00056
|
NM_014946.4(SPAST):c.683-9C>T
|
rs202209866
|
0.00056
|
NM_015166.4(MLC1):c.1053T>C (p.Ala351=)
|
rs11568190
|
0.00056
|
NM_015915.5(ATL1):c.631-7T>A
|
rs186528086
|
0.00056
|
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)
|
rs200202953
|
0.00056
|
NM_182961.4(SYNE1):c.3669+10T>C
|
rs187598275
|
0.00056
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_000742.4(CHRNA2):c.987C>T (p.Gly329=)
|
rs147530139
|
0.00055
|
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=)
|
rs139694653
|
0.00055
|
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala)
|
rs138809301
|
0.00055
|
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=)
|
rs199628956
|
0.00055
|
NM_001330574.2(ZNF711):c.*272G>A
|
rs187954106
|
0.00055
|
NM_001378452.1(ITPR1):c.*121G>C
|
rs146903558
|
0.00055
|
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)
|
rs201964644
|
0.00055
|
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr)
|
rs200997332
|
0.00055
|
NM_005359.6(SMAD4):c.*5627G>A
|
rs185010226
|
0.00055
|
NM_006015.6(ARID1A):c.1716G>A (p.Thr572=)
|
rs147554664
|
0.00055
|
NM_014043.4(CHMP2B):c.*1408A>G
|
rs183429826
|
0.00055
|
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)
|
rs144659358
|
0.00055
|
NM_025243.4(SLC19A3):c.18T>A (p.Thr6=)
|
rs141093593
|
0.00055
|
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)
|
rs143204084
|
0.00055
|
NM_144599.5(NIPA1):c.*4716G>A
|
rs540912938
|
0.00055
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_001040142.2(SCN2A):c.2388+9C>A
|
rs191955969
|
0.00054
|
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)
|
rs200258756
|
0.00054
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
NM_001329943.3(KIAA0586):c.2944+8A>C
|
rs571616049
|
0.00054
|
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)
|
rs148709288
|
0.00054
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
NM_003900.5(SQSTM1):c.969+20G>A
|
rs199696608
|
0.00054
|
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)
|
rs141651423
|
0.00054
|
NM_004984.4(KIF5A):c.2403C>T (p.Phe801=)
|
rs149934878
|
0.00054
|
NM_006030.4(CACNA2D2):c.2589+16C>T
|
rs757551734
|
0.00054
|
NM_006950.3(SYN1):c.426A>G (p.Lys142=)
|
rs145911562
|
0.00054
|
NM_020708.5(SLC12A5):c.1431C>T (p.Gly477=)
|
rs538711126
|
0.00054
|
NM_021098.3(CACNA1H):c.3845+8G>A
|
rs200291203
|
0.00054
|
NM_022089.4(ATP13A2):c.106-14C>T
|
rs199706883
|
0.00054
|
NM_172107.4(KCNQ2):c.81G>A (p.Leu27=)
|
rs373897282
|
0.00054
|
NM_173728.4(ARHGEF15):c.2337C>T (p.Ser779=)
|
rs115332545
|
0.00054
|
NM_182961.4(SYNE1):c.1730-7G>A
|
rs367603152
|
0.00054
|
NM_198904.4(GABRG2):c.631+18T>A
|
rs145582456
|
0.00054
|
NM_001008212.2(OPTN):c.1612+10G>A
|
rs191671333
|
0.00053
|
NM_001032221.6(STXBP1):c.326-8A>G
|
rs180716154
|
0.00053
|
NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=)
|
rs140951214
|
0.00053
|
NM_001205293.3(CACNA1E):c.1315+12C>G
|
rs373180436
|
0.00053
|
NM_001244008.2(KIF1A):c.3672G>A (p.Arg1224=)
|
rs371024769
|
0.00053
|
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)
|
rs187442951
|
0.00053
|
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)
|
rs117872964
|
0.00053
|
NM_003042.4(SLC6A1):c.846C>T (p.Ser282=)
|
rs139315755
|
0.00053
|
NM_003719.5(PDE8B):c.1309C>T (p.Arg437Cys)
|
rs201363586
|
0.00053
|
NM_004738.5(VAPB):c.*3020A>G
|
rs570716807
|
0.00053
|
NM_006612.6(KIF1C):c.2325C>T (p.Ala775=)
|
rs113398149
|
0.00053
|
NM_007375.4(TARDBP):c.*1081C>T
|
rs184303021
|
0.00053
|
NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=)
|
rs190789698
|
0.00053
|
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=)
|
rs146665638
|
0.00053
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
NM_015158.5(KANK1):c.3870C>T (p.Pro1290=)
|
rs115758363
|
0.00053
|
NM_020988.3(GNAO1):c.414A>G (p.Gln138=)
|
rs141057479
|
0.00053
|
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=)
|
rs368758031
|
0.00053
|
NM_021098.3(CACNA1H):c.3970-6C>T
|
rs200403676
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_032776.3(JMJD1C):c.3951T>C (p.Ser1317=)
|
rs143894691
|
0.00053
|
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=)
|
rs75817012
|
0.00053
|
NM_182961.4(SYNE1):c.9651+20G>A
|
rs200951972
|
0.00053
|
NM_000742.4(CHRNA2):c.*1392A>G
|
rs564765220
|
0.00052
|
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)
|
rs200160858
|
0.00052
|
NM_001371928.1(AHDC1):c.3572G>A (p.Ser1191Asn)
|
rs146401682
|
0.00052
|
NM_001429.4(EP300):c.1168+20T>C
|
rs3818121
|
0.00052
|
NM_002137.4(HNRNPA2B1):c.117+13C>T
|
rs201523113
|
0.00052
|
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)
|
rs75700262
|
0.00052
|
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)
|
rs143754727
|
0.00052
|
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=)
|
rs140686003
|
0.00052
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_014053.4(FLVCR1):c.*1920T>A
|
rs115914498
|
0.00052
|
NM_014334.4(FRRS1L):c.133C>A (p.Arg45Ser)
|
rs573029562
|
0.00052
|
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val)
|
rs145812868
|
0.00052
|
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)
|
rs145674759
|
0.00052
|
NM_018206.6(VPS35):c.2145A>G (p.Leu715=)
|
rs145033509
|
0.00052
|
NM_018723.4(RBFOX1):c.96C>G (p.Pro32=)
|
rs143695164
|
0.00052
|
NM_022464.5(SIL1):c.573G>A (p.Lys191=)
|
rs148927511
|
0.00052
|
NM_025000.4(DCAF17):c.537+16C>T
|
rs142462938
|
0.00052
|
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=)
|
rs35430888
|
0.00052
|
NM_000170.3(GLDC):c.470+11T>C
|
rs142534180
|
0.00051
|
NM_000454.5(SOD1):c.72+19G>A
|
rs201574089
|
0.00051
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_001110556.2(FLNA):c.6907+14G>T
|
rs199934017
|
0.00051
|
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu)
|
rs183034705
|
0.00051
|
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=)
|
rs187115247
|
0.00051
|
NM_001330260.2(SCN8A):c.1677C>T (p.His559=)
|
rs202212399
|
0.00051
|
NM_001371279.1(REEP1):c.*906C>T
|
rs140533240
|
0.00051
|
NM_001371928.1(AHDC1):c.4329C>G (p.His1443Gln)
|
rs199527867
|
0.00051
|
NM_001371928.1(AHDC1):c.870G>A (p.Pro290=)
|
rs369838366
|
0.00051
|
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)
|
rs193212750
|
0.00051
|
NM_001931.5(DLAT):c.1815-15T>C
|
rs192297571
|
0.00051
|
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)
|
rs144942998
|
0.00051
|
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=)
|
rs149874634
|
0.00051
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala)
|
rs184147813
|
0.00051
|
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)
|
rs148781922
|
0.00051
|
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_005465.7(AKT3):c.285-13C>T
|
rs201603638
|
0.00051
|
NM_006267.5(RANBP2):c.1755+15A>G
|
rs376409146
|
0.00051
|
NM_007254.4(PNKP):c.1557C>T (p.Ser519=)
|
rs142180374
|
0.00051
|
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=)
|
rs139637382
|
0.00051
|
NM_012193.4(FZD4):c.*3775C>T
|
rs112177728
|
0.00051
|
NM_013275.6(ANKRD11):c.3009C>T (p.His1003=)
|
rs140023344
|
0.00051
|
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu)
|
rs373218212
|
0.00051
|
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)
|
rs77170608
|
0.00051
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_016955.4(SEPSECS):c.*223G>A
|
rs146860744
|
0.00051
|
NM_018723.4(RBFOX1):c.270+10C>G
|
rs113881725
|
0.00051
|
NM_021098.3(CACNA1H):c.2030C>T (p.Ser677Leu)
|
rs181892888
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
NM_025000.4(DCAF17):c.*1965A>G
|
rs569108215
|
0.00051
|
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)
|
rs139372534
|
0.00051
|
NM_171998.4(RAB39B):c.*1079A>C
|
rs147409916
|
0.00051
|
NM_173354.5(SIK1):c.966G>A (p.Thr322=)
|
rs148266853
|
0.00051
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
NM_000484.4(APP):c.1810G>A (p.Val604Met)
|
rs199887707
|
0.00050
|
NM_000489.6(ATRX):c.1423C>G (p.His475Asp)
|
rs146863015
|
0.00050
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_001110792.2(MECP2):c.*1368C>A
|
rs267608355
|
0.00050
|
NM_001110792.2(MECP2):c.879C>T (p.Ala293=)
|
rs61750252
|
0.00050
|
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=)
|
rs200456378
|
0.00050
|
NM_001282531.3(ADNP):c.1752A>G (p.Gln584=)
|
rs139237825
|
0.00050
|
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=)
|
rs763419895
|
0.00050
|
NM_001330260.2(SCN8A):c.3321C>T (p.Asn1107=)
|
rs374213514
|
0.00050
|
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=)
|
rs113110833
|
0.00050
|
NM_001371928.1(AHDC1):c.2827A>C (p.Thr943Pro)
|
rs150289747
|
0.00050
|
NM_002397.5(MEF2C):c.402+16A>G
|
rs373582392
|
0.00050
|
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=)
|
rs754442970
|
0.00050
|
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=)
|
rs139207930
|
0.00050
|
NM_005045.4(RELN):c.7580C>A (p.Ser2527Tyr)
|
rs114620403
|
0.00050
|
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)
|
rs376756703
|
0.00050
|
NM_005359.6(SMAD4):c.*4378T>G
|
rs540039847
|
0.00050
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu)
|
rs202034147
|
0.00050
|
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=)
|
rs138091242
|
0.00050
|
NM_020822.3(KCNT1):c.3028-14T>G
|
rs539727852
|
0.00050
|
NM_021098.3(CACNA1H):c.1218C>T (p.Gly406=)
|
rs375730044
|
0.00050
|
NM_021098.3(CACNA1H):c.2546C>T (p.Pro849Leu)
|
rs571237069
|
0.00050
|
NM_025219.3(DNAJC5):c.*1630C>T
|
rs527390994
|
0.00050
|
NM_130837.3(OPA1):c.1302T>G (p.Pro434=)
|
rs139861334
|
0.00050
|
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)
|
rs150785666
|
0.00050
|
NM_152309.3(PIK3AP1):c.1651G>A (p.Glu551Lys)
|
rs3748233
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_152564.5(VPS13B):c.3211-11T>C
|
rs77129176
|
0.00050
|
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)
|
rs200709847
|
0.00049
|
NM_001205293.3(CACNA1E):c.4287A>G (p.Gln1429=)
|
rs534133872
|
0.00049
|
NM_001205293.3(CACNA1E):c.5008C>T (p.Leu1670=)
|
rs143906181
|
0.00049
|
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=)
|
rs144424662
|
0.00049
|
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=)
|
rs148892536
|
0.00049
|
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=)
|
rs115145637
|
0.00049
|
NM_001429.4(EP300):c.5364C>T (p.Leu1788=)
|
rs143551315
|
0.00049
|
NM_001845.6(COL4A1):c.690C>T (p.Asp230=)
|
rs149688210
|
0.00049
|
NM_001958.5(EEF1A2):c.279C>T (p.Pro93=)
|
rs142072676
|
0.00049
|
NM_004035.7(ACOX1):c.*3228T>G
|
rs142553986
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)
|
rs140406003
|
0.00049
|
NM_005359.6(SMAD4):c.*6492A>T
|
rs569819237
|
0.00049
|
NM_007055.4(POLR3A):c.*1303C>T
|
rs188968443
|
0.00049
|
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)
|
rs139091750
|
0.00049
|
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=)
|
rs139561508
|
0.00049
|
NM_130837.3(OPA1):c.*1425G>A
|
rs117826024
|
0.00049
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
NM_153252.5(BRWD3):c.*2723A>G
|
rs756899423
|
0.00049
|
NM_203446.3(SYNJ1):c.706-11T>C
|
rs150213884
|
0.00049
|
NM_000033.4(ABCD1):c.601G>A (p.Val201Met)
|
rs139415350
|
0.00048
|
NM_000052.7(ATP7A):c.3801+6T>C
|
rs181665434
|
0.00048
|
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=)
|
rs111405592
|
0.00048
|
NM_001099922.3(ALG13):c.1327-19A>G
|
rs375412069
|
0.00048
|
NM_001127222.2(CACNA1A):c.3693-20C>T
|
rs200082880
|
0.00048
|
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=)
|
rs142910512
|
0.00048
|
NM_001288705.3(CSF1R):c.178C>T (p.Leu60=)
|
rs55865465
|
0.00048
|
NM_001330260.2(SCN8A):c.1998+15G>T
|
rs375797844
|
0.00048
|
NM_001330260.2(SCN8A):c.4543G>A (p.Val1515Ile)
|
rs184568764
|
0.00048
|
NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
NM_001845.6(COL4A1):c.3198+10G>A
|
rs202002553
|
0.00048
|
NM_001845.6(COL4A1):c.708C>G (p.Val236=)
|
rs139523466
|
0.00048
|
NM_003079.5(SMARCE1):c.1028-18A>G
|
rs202149619
|
0.00048
|
NM_003334.4(UBA1):c.39C>T (p.Ser13=)
|
rs141450062
|
0.00048
|
NM_004565.3(PEX14):c.384+17G>A
|
rs199913711
|
0.00048
|
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu)
|
rs201029925
|
0.00048
|
NM_005051.3(QARS1):c.1295+20G>C
|
rs377586991
|
0.00048
|
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala)
|
rs148157138
|
0.00048
|
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys)
|
rs140373729
|
0.00048
|
NM_014043.4(CHMP2B):c.*744C>A
|
rs185167991
|
0.00048
|
NM_020919.4(ALS2):c.4404-18C>T
|
rs201341532
|
0.00048
|
NM_021098.3(CACNA1H):c.3969+20C>T
|
rs201422742
|
0.00048
|
NM_052874.5(STX1B):c.106-15G>A
|
rs374849858
|
0.00048
|
NM_152309.3(PIK3AP1):c.1551T>C (p.Asp517=)
|
rs142087930
|
0.00048
|
NM_152309.3(PIK3AP1):c.1735G>A (p.Gly579Arg)
|
rs144966728
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=)
|
rs372982045
|
0.00047
|
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)
|
rs61730768
|
0.00047
|
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)
|
rs148546224
|
0.00047
|
NM_001199753.2(CPT1C):c.2133+12T>G
|
rs767437674
|
0.00047
|
NM_001271.4(CHD2):c.2001-15C>G
|
rs201137739
|
0.00047
|
NM_001414.4(EIF2B1):c.*352C>G
|
rs150711091
|
0.00047
|
NM_003072.5(SMARCA4):c.2817C>T (p.Phe939=)
|
rs147791182
|
0.00047
|
NM_003072.5(SMARCA4):c.4171-13A>G
|
rs201298366
|
0.00047
|
NM_004565.3(PEX14):c.78G>A (p.Glu26=)
|
rs144664869
|
0.00047
|
NM_005076.5(CNTN2):c.223A>G (p.Met75Val)
|
rs144767577
|
0.00047
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
NM_005629.4(SLC6A8):c.1016+9C>T
|
rs190690083
|
0.00047
|
NM_013275.6(ANKRD11):c.6201C>T (p.Ser2067=)
|
rs753589168
|
0.00047
|
NM_014855.3(AP5Z1):c.1566G>T (p.Leu522=)
|
rs563984280
|
0.00047
|
NM_014946.4(SPAST):c.243C>G (p.Arg81=)
|
rs146956762
|
0.00047
|
NM_018834.6(MATR3):c.*2054T>A
|
rs116278472
|
0.00047
|
NM_021098.3(CACNA1H):c.5874C>T (p.Ala1958=)
|
rs530638249
|
0.00047
|
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=)
|
rs372309740
|
0.00046
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_000096.4(CP):c.2554+18G>A
|
rs201627704
|
0.00046
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=)
|
rs149142237
|
0.00046
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
0.00046
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
NM_001110792.2(MECP2):c.855G>T (p.Gly285=)
|
rs61750245
|
0.00046
|
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)
|
rs146979083
|
0.00046
|
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=)
|
rs143844598
|
0.00046
|
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=)
|
rs150902677
|
0.00046
|
NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=)
|
rs140825810
|
0.00046
|
NM_001365536.1(SCN9A):c.2422T>C (p.Trp808Arg)
|
rs147639592
|
0.00046
|
NM_001371727.1(GABRB2):c.1227C>T (p.Leu409=)
|
rs146425610
|
0.00046
|
NM_001958.5(EEF1A2):c.375G>A (p.Ala125=)
|
rs2274861
|
0.00046
|
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)
|
rs181657861
|
0.00046
|
NM_004082.5(DCTN1):c.279+8C>T
|
rs376401397
|
0.00046
|
NM_004168.4(SDHA):c.163T>C (p.Tyr55His)
|
rs142926807
|
0.00046
|
NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=)
|
rs150497848
|
0.00046
|
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)
|
rs143743958
|
0.00046
|
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)
|
rs377507553
|
0.00046
|
NM_014946.4(SPAST):c.1493+6G>A
|
rs115659052
|
0.00046
|
NM_015046.7(SETX):c.*1803G>A
|
rs556145432
|
0.00046
|
NM_018718.3(CEP41):c.*4595G>A
|
rs117814753
|
0.00046
|
NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp)
|
rs140164220
|
0.00046
|
NM_032737.4(LMNB2):c.265-19C>T
|
rs199577453
|
0.00046
|
NM_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
NM_182961.4(SYNE1):c.7713-12C>T
|
rs550804556
|
0.00046
|
NM_000484.4(APP):c.663-9C>A
|
rs199587668
|
0.00045
|
NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=)
|
rs147373250
|
0.00045
|
NM_001008212.2(OPTN):c.147C>T (p.Thr49=)
|
rs187734249
|
0.00045
|
NM_001099922.3(ALG13):c.1006-14G>A
|
rs760527824
|
0.00045
|
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=)
|
rs374511141
|
0.00045
|
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=)
|
rs75028792
|
0.00045
|
NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=)
|
rs372388512
|
0.00045
|
NM_001429.4(EP300):c.2568A>G (p.Ala856=)
|
rs145037345
|
0.00045
|
NM_003042.4(SLC6A1):c.849+20C>T
|
rs6341
|
0.00045
|
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=)
|
rs141259126
|
0.00045
|
NM_003334.4(UBA1):c.1137C>T (p.Asp379=)
|
rs143935711
|
0.00045
|
NM_004975.4(KCNB1):c.2363C>A (p.Thr788Lys)
|
rs140932985
|
0.00045
|
NM_005076.5(CNTN2):c.63C>T (p.Ser21=)
|
rs149630443
|
0.00045
|
NM_005154.5(USP8):c.1675C>T (p.His559Tyr)
|
rs192977674
|
0.00045
|
NM_005359.6(SMAD4):c.*4862A>G
|
rs139595540
|
0.00045
|
NM_006267.5(RANBP2):c.2212C>T (p.Pro738Ser)
|
rs201793011
|
0.00045
|
NM_013275.6(ANKRD11):c.-158G>T
|
rs1048978329
|
0.00045
|
NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=)
|
rs376468392
|
0.00045
|
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)
|
rs200724087
|
0.00045
|
NM_014334.4(FRRS1L):c.312G>A (p.Lys104=)
|
rs138531590
|
0.00045
|
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=)
|
rs373620549
|
0.00045
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=)
|
rs142767399
|
0.00045
|
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=)
|
rs140674819
|
0.00045
|
NM_173354.5(SIK1):c.1560C>T (p.Leu520=)
|
rs146485356
|
0.00045
|
NM_000061.3(BTK):c.1698G>A (p.Pro566=)
|
rs3208812
|
0.00044
|
NM_001003800.2(BICD2):c.1050G>A (p.Gln350=)
|
rs368860496
|
0.00044
|
NM_001134407.3(GRIN2A):c.*6601G>C
|
rs565650930
|
0.00044
|
NM_002222.6(ITPR1):c.*1533G>A
|
rs377290142
|
0.00044
|
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=)
|
rs62639303
|
0.00044
|
NM_003719.5(PDE8B):c.*741A>T
|
rs189940792
|
0.00044
|
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met)
|
rs368145743
|
0.00044
|
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=)
|
rs554810606
|
0.00044
|
NM_004385.5(VCAN):c.7489A>G (p.Lys2497Glu)
|
rs140606678
|
0.00044
|
NM_004738.5(VAPB):c.59-4A>G
|
rs193136039
|
0.00044
|
NM_005465.7(AKT3):c.807C>T (p.Tyr269=)
|
rs150205993
|
0.00044
|
NM_012193.4(FZD4):c.76C>A (p.Gln26Lys)
|
rs140601725
|
0.00044
|
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg)
|
rs117659667
|
0.00044
|
NM_020708.5(SLC12A5):c.1695C>T (p.Phe565=)
|
rs41282784
|
0.00044
|
NM_152296.5(ATP1A3):c.*236T>C
|
rs199854166
|
0.00044
|
NM_000484.4(APP):c.592T>C (p.Ser198Pro)
|
rs145081708
|
0.00043
|
NM_000834.5(GRIN2B):c.4101C>T (p.Pro1367=)
|
rs112932810
|
0.00043
|
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val)
|
rs144637103
|
0.00043
|
NM_001182.5(ALDH7A1):c.774-18G>A
|
rs185333013
|
0.00043
|
NM_001363118.2(SLC52A2):c.696C>T (p.Gly232=)
|
rs577719492
|
0.00043
|
NM_001429.4(EP300):c.3063T>C (p.Thr1021=)
|
rs142431552
|
0.00043
|
NM_001846.4(COL4A2):c.1328C>G (p.Pro443Arg)
|
rs192250572
|
0.00043
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
NM_002137.4(HNRNPA2B1):c.243A>G (p.Pro81=)
|
rs143134057
|
0.00043
|
NM_002617.4(PEX10):c.627G>A (p.Glu209=)
|
rs141430704
|
0.00043
|
NM_002693.3(POLG):c.3274-19G>A
|
rs116925016
|
0.00043
|
NM_003719.5(PDE8B):c.2055G>A (p.Glu685=)
|
rs146449408
|
0.00043
|
NM_004204.5(PIGQ):c.620G>A (p.Arg207Gln)
|
rs200353362
|
0.00043
|
NM_004385.5(VCAN):c.3201G>A (p.Glu1067=)
|
rs201157092
|
0.00043
|
NM_004519.4(KCNQ3):c.-85C>T
|
rs765522706
|
0.00043
|
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=)
|
rs145063831
|
0.00043
|
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)
|
rs146877597
|
0.00043
|
NM_018834.6(MATR3):c.*2200C>T
|
rs770043950
|
0.00043
|
NM_020822.3(KCNT1):c.3502+12C>T
|
rs367727105
|
0.00043
|
NM_020822.3(KCNT1):c.760-19G>A
|
rs375929015
|
0.00043
|
NM_021098.3(CACNA1H):c.4386C>T (p.Pro1462=)
|
rs142856193
|
0.00043
|
NM_021098.3(CACNA1H):c.4476+15C>T
|
rs201891003
|
0.00043
|
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu)
|
rs115861965
|
0.00043
|
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=)
|
rs141295418
|
0.00043
|
NM_024989.4(PGAP1):c.1220+19T>C
|
rs142559942
|
0.00043
|
NM_052874.5(STX1B):c.513G>C (p.Gly171=)
|
rs143402089
|
0.00043
|
NM_139318.5(KCNH5):c.943-18T>G
|
rs541748886
|
0.00043
|
NM_153033.5(KCTD7):c.*1926G>A
|
rs117267079
|
0.00043
|
NM_000288.4(PEX7):c.748-16C>T
|
rs200965122
|
0.00042
|
NM_001110792.2(MECP2):c.885C>G (p.Ala295=)
|
rs61750253
|
0.00042
|
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=)
|
rs146625055
|
0.00042
|
NM_001127222.2(CACNA1A):c.5649C>G (p.Pro1883=)
|
rs61741139
|
0.00042
|
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val)
|
rs139795367
|
0.00042
|
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=)
|
rs140601882
|
0.00042
|
NM_006087.4(TUBB4A):c.*100G>A
|
rs528792394
|
0.00042
|
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr)
|
rs140370885
|
0.00042
|
NM_015338.6(ASXL1):c.1923C>T (p.Ile641=)
|
rs551524526
|
0.00042
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_021098.3(CACNA1H):c.3845+11C>T
|
rs58080058
|
0.00042
|
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met)
|
rs570675468
|
0.00042
|
NM_032776.3(JMJD1C):c.7593G>A (p.Glu2531=)
|
rs186321056
|
0.00042
|
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)
|
rs201776669
|
0.00041
|
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)
|
rs202125585
|
0.00041
|
NM_000170.3(GLDC):c.2202+19C>T
|
rs187370615
|
0.00041
|
NM_000368.5(TSC1):c.*3538A>G
|
rs533324867
|
0.00041
|
NM_000405.5(GM2A):c.126G>A (p.Gly42=)
|
rs113271740
|
0.00041
|
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr)
|
rs138836272
|
0.00041
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
NM_000834.5(GRIN2B):c.4230G>A (p.Thr1410=)
|
rs149655315
|
0.00041
|
NM_001110556.2(FLNA):c.3207+14G>A
|
rs200710010
|
0.00041
|
NM_001110792.2(MECP2):c.870C>T (p.Ala290=)
|
rs61750248
|
0.00041
|
NM_001127222.2(CACNA1A):c.5732-6T>C
|
rs16043
|
0.00041
|
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=)
|
rs138985089
|
0.00041
|
NM_001165963.4(SCN1A):c.4002+2383G>T
|
rs191448880
|
0.00041
|
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His)
|
rs376744360
|
0.00041
|
NM_001845.6(COL4A1):c.633C>T (p.Pro211=)
|
rs144773264
|
0.00041
|
NM_001958.5(EEF1A2):c.772+13G>A
|
rs376455856
|
0.00041
|
NM_002857.4(PEX19):c.254C>T (p.Ala85Val)
|
rs11550119
|
0.00041
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_003079.5(SMARCE1):c.351C>T (p.Asn117=)
|
rs149613910
|
0.00041
|
NM_004385.5(VCAN):c.9124G>A (p.Asp3042Asn)
|
rs144214095
|
0.00041
|
NM_004813.4(PEX16):c.149-6C>T
|
rs78883829
|
0.00041
|
NM_004960.3(FUS):c.*3231T>C
|
rs193018950
|
0.00041
|
NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys)
|
rs138576725
|
0.00041
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)
|
rs150452237
|
0.00041
|
NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr)
|
rs139239852
|
0.00041
|
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=)
|
rs142469039
|
0.00041
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
NM_014844.5(TECPR2):c.3465C>A (p.Ser1155Arg)
|
rs75004775
|
0.00041
|
NM_014946.4(SPAST):c.*2583C>T
|
rs138968325
|
0.00041
|
NM_015915.5(ATL1):c.408T>C (p.Asp136=)
|
rs76375909
|
0.00041
|
NM_021098.3(CACNA1H):c.5679G>T (p.Arg1893=)
|
rs58304047
|
0.00041
|
NM_021098.3(CACNA1H):c.5958G>A (p.Ser1986=)
|
rs370805573
|
0.00041
|
NM_021098.3(CACNA1H):c.6324C>T (p.Ala2108=)
|
rs57670193
|
0.00041
|
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=)
|
rs79829712
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_021728.4(OTX2):c.*779G>A
|
rs138197536
|
0.00041
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser)
|
rs147312612
|
0.00041
|
NM_139318.5(KCNH5):c.1970C>G (p.Ala657Gly)
|
rs143775193
|
0.00041
|
NM_173354.5(SIK1):c.1462+11C>T
|
rs373251983
|
0.00041
|
NM_198578.4(LRRK2):c.825T>C (p.His275=)
|
rs72546315
|
0.00041
|
NM_000466.3(PEX1):c.2718+3A>G
|
rs370536529
|
0.00040
|
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser)
|
rs144185168
|
0.00040
|
NM_000744.7(CHRNA4):c.1431G>A (p.Ala477=)
|
rs80307076
|
0.00040
|
NM_001003800.2(BICD2):c.2012C>T (p.Ala671Val)
|
rs200086216
|
0.00040
|
NM_001003800.2(BICD2):c.454-7C>G
|
rs186469385
|
0.00040
|
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=)
|
rs200246820
|
0.00040
|
NM_001083614.2(EARS2):c.580G>A (p.Val194Met)
|
rs76634881
|
0.00040
|
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn)
|
rs374748006
|
0.00040
|
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=)
|
rs372863999
|
0.00040
|
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=)
|
rs150570058
|
0.00040
|
NM_001205293.3(CACNA1E):c.3263-13G>A
|
rs368969096
|
0.00040
|
NM_001271.4(CHD2):c.2337A>G (p.Gly779=)
|
rs138084718
|
0.00040
|
NM_001329943.3(KIAA0586):c.1129+11del
|
rs142477754
|
0.00040
|
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val)
|
rs147455836
|
0.00040
|
NM_002693.3(POLG):c.1712+10G>A
|
rs55962804
|
0.00040
|
NM_004385.5(VCAN):c.7374A>G (p.Thr2458=)
|
rs148715382
|
0.00040
|
NM_005027.4(PIK3R2):c.1809-17A>G
|
rs199501065
|
0.00040
|
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=)
|
rs377463848
|
0.00040
|
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser)
|
rs782384589
|
0.00040
|
NM_005670.4(EPM2A):c.718+19C>G
|
rs370750611
|
0.00040
|
NM_007126.5(VCP):c.832T>C (p.Leu278=)
|
rs200670526
|
0.00040
|
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120
|
0.00040
|
NM_012193.4(FZD4):c.*3770A>T
|
rs182049165
|
0.00040
|
NM_018122.5(DARS2):c.580G>A (p.Val194Ile)
|
rs186723843
|
0.00040
|
NM_021098.3(CACNA1H):c.1213-7G>A
|
rs372752869
|
0.00040
|
NM_021098.3(CACNA1H):c.5836C>T (p.Arg1946Cys)
|
rs57429153
|
0.00040
|
NM_025136.4(OPA3):c.*7181G>A
|
rs74253369
|
0.00040
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
NM_203446.3(SYNJ1):c.705+7A>G
|
rs187016397
|
0.00040
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
NM_000081.4(LYST):c.9198C>T (p.Ser3066=)
|
rs543359133
|
0.00039
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
0.00039
|
NM_000533.5(PLP1):c.549C>A (p.Thr183=)
|
rs184166250
|
0.00039
|
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)
|
rs141721605
|
0.00039
|
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=)
|
rs149921259
|
0.00039
|
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)
|
rs8179034
|
0.00039
|
NM_001099922.3(ALG13):c.1971G>A (p.Met657Ile)
|
rs1290639452
|
0.00039
|
NM_001099922.3(ALG13):c.2248-15G>C
|
rs139711892
|
0.00039
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=)
|
rs79569204
|
0.00039
|
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met)
|
rs61758431
|
0.00039
|
NM_001242896.3(DEPDC5):c.1389C>T (p.Asp463=)
|
rs188147862
|
0.00039
|
NM_001271.4(CHD2):c.4807C>T (p.Pro1603Ser)
|
rs144395162
|
0.00039
|
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp)
|
rs77860620
|
0.00039
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
NM_001414.4(EIF2B1):c.*179A>C
|
rs149472233
|
0.00039
|
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=)
|
rs149526015
|
0.00039
|
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=)
|
rs139943231
|
0.00039
|
NM_003793.4(CTSF):c.1407C>T (p.Ser469=)
|
rs144556402
|
0.00039
|
NM_004115.4(FGF14):c.*176C>G
|
rs191705440
|
0.00039
|
NM_004385.5(VCAN):c.4272A>G (p.Pro1424=)
|
rs150960939
|
0.00039
|
NM_004738.4(VAPB):c.-322G>C
|
rs746837253
|
0.00039
|
NM_005120.3(MED12):c.1695T>A (p.Ile565=)
|
rs138984044
|
0.00039
|
NM_005120.3(MED12):c.381G>A (p.Thr127=)
|
rs202125318
|
0.00039
|
NM_005465.7(AKT3):c.792C>T (p.Ser264=)
|
rs77764554
|
0.00039
|
NM_006015.6(ARID1A):c.393G>C (p.Gly131=)
|
rs768590350
|
0.00039
|
NM_007327.4(GRIN1):c.1864+17C>T
|
rs199730840
|
0.00039
|
NM_014846.4(WASHC5):c.*78A>G
|
rs188863489
|
0.00039
|
NM_015166.4(MLC1):c.*773G>A
|
rs4838880
|
0.00039
|
NM_015214.3(DDHD2):c.1348A>G (p.Ile450Val)
|
rs541849444
|
0.00039
|
NM_020822.3(KCNT1):c.-1C>A
|
rs149383208
|
0.00039
|
NM_021098.3(CACNA1H):c.4986C>T (p.Phe1662=)
|
rs60938322
|
0.00039
|
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)
|
rs184878897
|
0.00039
|
NM_032603.5(LOXL3):c.*178A>T
|
rs71640296
|
0.00039
|
NM_032776.3(JMJD1C):c.3178A>G (p.Lys1060Glu)
|
rs149833441
|
0.00039
|
NM_130837.3(OPA1):c.2984-4A>G
|
rs184273607
|
0.00039
|
NM_182961.4(SYNE1):c.12411C>T (p.His4137=)
|
rs751325537
|
0.00039
|
NM_182961.4(SYNE1):c.19692+3G>A
|
rs150304757
|
0.00039
|
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg)
|
rs117184249
|
0.00039
|
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=)
|
rs79449810
|
0.00039
|
NM_198578.4(LRRK2):c.7320A>G (p.Ser2440=)
|
rs144027504
|
0.00039
|
NM_203446.3(SYNJ1):c.*186_*187insAATAC
|
rs869265580
|
0.00039
|
NM_000030.3(AGXT):c.165+40A>C
|
rs57017537
|
0.00038
|
NM_000044.6(AR):c.1792A>G (p.Ser598Gly)
|
rs142280455
|
0.00038
|
NM_000081.4(LYST):c.1655T>C (p.Val552Ala)
|
rs199617821
|
0.00038
|
NM_000454.4(SOD1):c.-83T>C
|
rs377427683
|
0.00038
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
NM_001024845.3(SLC6A9):c.1641C>T (p.Ser547=)
|
rs144741950
|
0.00038
|
NM_001110792.2(MECP2):c.*3662A>G
|
rs267608366
|
0.00038
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=)
|
rs142964132
|
0.00038
|
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg)
|
rs62621087
|
0.00038
|
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His)
|
rs141816797
|
0.00038
|
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=)
|
rs192122222
|
0.00038
|
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)
|
rs201374999
|
0.00038
|
NM_001271.4(CHD2):c.3886-14C>T
|
rs368361932
|
0.00038
|
NM_001350451.2(RBFOX3):c.960C>T (p.Tyr320=)
|
rs539897924
|
0.00038
|
NM_001365536.1(SCN9A):c.4399-14G>T
|
rs112927502
|
0.00038
|
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu)
|
rs139620600
|
0.00038
|
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=)
|
rs148428571
|
0.00038
|
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=)
|
rs141806282
|
0.00038
|
NM_003977.4(AIP):c.36G>A (p.Gly12=)
|
rs79662690
|
0.00038
|
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu)
|
rs142008620
|
0.00038
|
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)
|
rs3025679
|
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_005045.4(RELN):c.6166C>T (p.Pro2056Ser)
|
rs200409290
|
0.00038
|
NM_005120.3(MED12):c.5400+7G>A
|
rs201254124
|
0.00038
|
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=)
|
rs369241538
|
0.00038
|
NM_005629.4(SLC6A8):c.1496-8C>T
|
rs376038235
|
0.00038
|
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=)
|
rs149468118
|
0.00038
|
NM_006087.4(TUBB4A):c.-62C>T
|
rs774284850
|
0.00038
|
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg)
|
rs143534021
|
0.00038
|
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)
|
rs41298474
|
0.00038
|
NM_014844.5(TECPR2):c.1140G>A (p.Ala380=)
|
rs139710994
|
0.00038
|
NM_014846.4(WASHC5):c.2668-19C>T
|
rs368313044
|
0.00038
|
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His)
|
rs767529359
|
0.00038
|
NM_018723.4(RBFOX1):c.264C>T (p.Thr88=)
|
rs202136920
|
0.00038
|
NM_020988.3(GNAO1):c.1017C>A (p.Val339=)
|
rs142102704
|
0.00038
|
NM_021072.4(HCN1):c.1710C>T (p.Asn570=)
|
rs141455774
|
0.00038
|
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=)
|
rs200017975
|
0.00038
|
NM_024665.7(TBL1XR1):c.1251-13C>G
|
rs764679582
|
0.00038
|
NM_182961.4(SYNE1):c.9807+14C>G
|
rs182453040
|
0.00038
|
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)
|
rs145545199
|
0.00037
|
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)
|
rs371939448
|
0.00037
|
NM_000146.4(FTL):c.*24C>T
|
rs368083362
|
0.00037
|
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile)
|
rs144527582
|
0.00037
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_001134407.3(GRIN2A):c.-220C>T
|
rs139646156
|
0.00037
|
NM_001242896.3(DEPDC5):c.3342C>T (p.Asp1114=)
|
rs774805884
|
0.00037
|
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)
|
rs201047107
|
0.00037
|
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=)
|
rs146053295
|
0.00037
|
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=)
|
rs536603405
|
0.00037
|
NM_001371928.1(AHDC1):c.2532C>T (p.Leu844=)
|
rs149713889
|
0.00037
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734
|
0.00037
|
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=)
|
rs201621621
|
0.00037
|
NM_002137.4(HNRNPA2B1):c.906T>A (p.Gly302=)
|
rs139270847
|
0.00037
|
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp)
|
rs141873613
|
0.00037
|
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=)
|
rs139623802
|
0.00037
|
NM_004519.4(KCNQ3):c.*2010T>A
|
rs139631143
|
0.00037
|
NM_013275.6(ANKRD11):c.1258G>A (p.Val420Met)
|
rs147180412
|
0.00037
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
NM_015100.4(POGZ):c.945T>C (p.Asn315=)
|
rs144073313
|
0.00037
|
NM_182919.4(TICAM1):c.1929G>A (p.Pro643=)
|
rs201978370
|
0.00037
|
NC_000009.12:g.34638237A>T
|
rs148692127
|
0.00036
|
NM_000052.7(ATP7A):c.610+19A>G
|
rs367724628
|
0.00036
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
NM_000061.3(BTK):c.707G>A (p.Arg236Gln)
|
rs147036606
|
0.00036
|
NM_000153.4(GALC):c.1147A>G (p.Ile383Val)
|
rs199723885
|
0.00036
|
NM_000284.4(PDHA1):c.899+12G>A
|
rs376730441
|
0.00036
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00036
|
NM_001003800.2(BICD2):c.861C>T (p.Asp287=)
|
rs768173580
|
0.00036
|
NM_001099922.3(ALG13):c.1729+14A>G
|
rs763484848
|
0.00036
|
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=)
|
rs782651736
|
0.00036
|
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=)
|
rs559862641
|
0.00036
|
NM_001127222.2(CACNA1A):c.5757C>T (p.Asp1919=)
|
rs368042511
|
0.00036
|
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=)
|
rs147466898
|
0.00036
|
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)
|
rs200310048
|
0.00036
|
NM_001244008.2(KIF1A):c.405C>T (p.Asn135=)
|
rs151212200
|
0.00036
|
NM_001378969.1(KCND3):c.1890G>A (p.Arg630=)
|
rs147262533
|
0.00036
|
NM_001844.5(COL2A1):c.870+11C>T
|
rs191695664
|
0.00036
|
NM_001845.6(COL4A1):c.*609T>C
|
rs189966143
|
0.00036
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=)
|
rs202136878
|
0.00036
|
NM_003924.4(PHOX2B):c.591C>G (p.Gly197=)
|
rs144414806
|
0.00036
|
NM_004408.4(DNM1):c.1437C>T (p.Ile479=)
|
rs141788807
|
0.00036
|
NM_004738.5(VAPB):c.*596C>T
|
rs118055109
|
0.00036
|
NM_004960.4(FUS):c.336-19_336-18insG
|
rs146048051
|
0.00036
|
NM_004975.4(KCNB1):c.177G>A (p.Lys59=)
|
rs117017889
|
0.00036
|
NM_005027.4(PIK3R2):c.323-15del
|
rs573541270
|
0.00036
|
NM_005120.3(MED12):c.397-12A>T
|
rs192515277
|
0.00036
|
NM_005359.6(SMAD4):c.*412A>G
|
rs28403611
|
0.00036
|
NM_005465.7(AKT3):c.46+12G>A
|
rs184404650
|
0.00036
|
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn)
|
rs201526436
|
0.00036
|
NM_006267.5(RANBP2):c.2405G>A (p.Arg802Gln)
|
rs187011794
|
0.00036
|
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser)
|
rs144516367
|
0.00036
|
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg)
|
rs138267399
|
0.00036
|
NM_014324.6(AMACR):c.392-16G>C
|
rs756124583
|
0.00036
|
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile)
|
rs201881288
|
0.00036
|
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=)
|
rs199835341
|
0.00036
|
NM_014946.4(SPAST):c.502+18T>C
|
rs201013227
|
0.00036
|
NM_018325.5(C9orf72):c.1149+9T>C
|
rs139352974
|
0.00036
|
NM_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)
|
rs201161419
|
0.00036
|
NM_021098.3(CACNA1H):c.3970-5G>A
|
rs202115678
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_032776.3(JMJD1C):c.3807A>G (p.Glu1269=)
|
rs527526754
|
0.00036
|
NM_152743.4(BRAT1):c.431G>A (p.Gly144Asp)
|
rs199745325
|
0.00036
|
NM_182961.4(SYNE1):c.15657+5T>A
|
rs199779021
|
0.00036
|
NM_198994.3(TGM6):c.555C>T (p.Asp185=)
|
rs144101264
|
0.00036
|
NM_000098.3(CPT2):c.588T>C (p.Pro196=)
|
rs140853350
|
0.00035
|
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp)
|
rs532842754
|
0.00035
|
NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=)
|
rs28363072
|
0.00035
|
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser)
|
rs149808406
|
0.00035
|
NM_001110792.2(MECP2):c.312A>G (p.Gly104=)
|
rs140191561
|
0.00035
|
NM_001130438.3(SPTAN1):c.1324-13C>G
|
rs199839122
|
0.00035
|
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)
|
rs199584370
|
0.00035
|
NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=)
|
rs144675407
|
0.00035
|
NM_001184880.2(PCDH19):c.2617-7A>G
|
rs370859689
|
0.00035
|
NM_001205293.3(CACNA1E):c.5898+10T>C
|
rs375791346
|
0.00035
|
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=)
|
rs374452942
|
0.00035
|
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)
|
rs144941725
|
0.00035
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=)
|
rs143515214
|
0.00035
|
NM_001429.4(EP300):c.6951G>A (p.Arg2317=)
|
rs139551099
|
0.00035
|
NM_002693.3(POLG):c.2427-12C>G
|
rs199815957
|
0.00035
|
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=)
|
rs111380592
|
0.00035
|
NM_003334.4(UBA1):c.1242C>T (p.Ser414=)
|
rs369843264
|
0.00035
|
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)
|
rs80028865
|
0.00035
|
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser)
|
rs200053475
|
0.00035
|
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met)
|
rs190844812
|
0.00035
|
NM_005334.3(HCFC1):c.4943-11C>T
|
rs375388306
|
0.00035
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
NM_016032.4(ZDHHC9):c.291G>A (p.Ala97=)
|
rs77513704
|
0.00035
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_018026.4(PACS1):c.631T>C (p.Leu211=)
|
rs151082834
|
0.00035
|
NM_020919.4(ALS2):c.176-19T>A
|
rs756097187
|
0.00035
|
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser)
|
rs56164833
|
0.00035
|
NM_173354.5(SIK1):c.453G>A (p.Lys151=)
|
rs138750735
|
0.00035
|
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=)
|
rs148731167
|
0.00035
|
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=)
|
rs148556501
|
0.00035
|
NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp)
|
rs138780308
|
0.00035
|
NM_000033.4(ABCD1):c.1047C>A (p.Val349=)
|
rs185931852
|
0.00034
|
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)
|
rs145073701
|
0.00034
|
NM_000368.5(TSC1):c.*3988G>A
|
rs563835484
|
0.00034
|
NM_000368.5(TSC1):c.*405A>G
|
rs560193480
|
0.00034
|
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)
|
rs192301957
|
0.00034
|
NM_000454.5(SOD1):c.423T>A (p.Ala141=)
|
rs143100660
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000484.4(APP):c.1225-11T>A
|
rs201326163
|
0.00034
|
NM_000742.4(CHRNA2):c.*29G>A
|
rs186509115
|
0.00034
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)
|
rs61751446
|
0.00034
|
NM_001127222.2(CACNA1A):c.1199-17G>C
|
rs190836274
|
0.00034
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
NM_001130823.3(DNMT1):c.803+11C>T
|
rs377632120
|
0.00034
|
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)
|
rs116122164
|
0.00034
|
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=)
|
rs145453022
|
0.00034
|
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
|
rs145475623
|
0.00034
|
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=)
|
rs139578640
|
0.00034
|
NM_002578.5(PAK3):c.1518G>A (p.Arg506=)
|
rs377693111
|
0.00034
|
NM_002857.4(PEX19):c.347-13T>A
|
rs371091340
|
0.00034
|
NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro)
|
rs145635937
|
0.00034
|
NM_003072.5(SMARCA4):c.2973+14G>A
|
rs372877301
|
0.00034
|
NM_003334.4(UBA1):c.176+13A>G
|
rs186890744
|
0.00034
|
NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn)
|
rs116027371
|
0.00034
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
NM_004082.5(DCTN1):c.*122A>C
|
rs777649011
|
0.00034
|
NM_004960.4(FUS):c.684C>T (p.Gly228=)
|
rs151073460
|
0.00034
|
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile)
|
rs140932636
|
0.00034
|
NM_004984.4(KIF5A):c.471C>T (p.His157=)
|
rs143178113
|
0.00034
|
NM_005045.4(RELN):c.1483A>G (p.Ile495Val)
|
rs150850005
|
0.00034
|
NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp)
|
rs149564430
|
0.00034
|
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=)
|
rs200577062
|
0.00034
|
NM_013275.6(ANKRD11):c.5766C>T (p.Ala1922=)
|
rs373393326
|
0.00034
|
NM_014239.4(EIF2B2):c.434-11C>T
|
rs200995477
|
0.00034
|
NM_014239.4(EIF2B2):c.899-11T>G
|
rs78900727
|
0.00034
|
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)
|
rs199921065
|
0.00034
|
NM_018026.4(PACS1):c.1838+9T>C
|
rs145783184
|
0.00034
|
NM_018834.6(MATR3):c.291A>G (p.Leu97=)
|
rs147239107
|
0.00034
|
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=)
|
rs150905302
|
0.00034
|
NM_020822.3(KCNT1):c.2691G>A (p.Ala897=)
|
rs142642528
|
0.00034
|
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=)
|
rs149049198
|
0.00034
|
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)
|
rs201756175
|
0.00034
|
NM_024665.7(TBL1XR1):c.865-19C>T
|
rs375720678
|
0.00034
|
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=)
|
rs139927561
|
0.00034
|
NM_025219.3(DNAJC5):c.*4129G>C
|
rs191412647
|
0.00034
|
NM_032581.4(HYCC1):c.650G>A (p.Arg217Gln)
|
rs192409840
|
0.00034
|
NM_032737.4(LMNB2):c.1751G>A (p.Arg584His)
|
rs377036714
|
0.00034
|
NM_172107.4(KCNQ2):c.297-18C>T
|
rs370109710
|
0.00034
|
NM_205836.3(FBXO38):c.1093+20A>C
|
rs140611091
|
0.00034
|
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)
|
rs151201945
|
0.00033
|
NM_000156.6(GAMT):c.182-18C>T
|
rs376709081
|
0.00033
|
NM_000414.4(HSD17B4):c.1503+12T>G
|
rs111239597
|
0.00033
|
NM_000484.4(APP):c.*724C>T
|
rs146774213
|
0.00033
|
NM_000533.5(PLP1):c.763-20C>A
|
rs201103416
|
0.00033
|
NM_000817.3(GAD1):c.1184+17G>A
|
rs180969459
|
0.00033
|
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)
|
rs34830702
|
0.00033
|
NM_001040142.2(SCN2A):c.2149+8A>G
|
rs199897920
|
0.00033
|
NM_001044.5(SLC6A3):c.1498+10G>A
|
rs759848180
|
0.00033
|
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
0.00033
|
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys)
|
rs138275607
|
0.00033
|
NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=)
|
rs199935692
|
0.00033
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=)
|
rs139329419
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_003072.5(SMARCA4):c.1593+14T>A
|
rs201395711
|
0.00033
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00033
|
NM_005235.3(ERBB4):c.308G>A (p.Arg103His)
|
rs754487821
|
0.00033
|
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)
|
rs140487104
|
0.00033
|
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser)
|
rs199635059
|
0.00033
|
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=)
|
rs140978841
|
0.00033
|
NM_006859.4(LIAS):c.944G>A (p.Arg315His)
|
rs145535775
|
0.00033
|
NM_007254.4(PNKP):c.876A>G (p.Gly292=)
|
rs3739199
|
0.00033
|
NM_014795.4(ZEB2):c.759C>T (p.Arg253=)
|
rs150853991
|
0.00033
|
NM_015338.6(ASXL1):c.2337T>G (p.Pro779=)
|
rs143613684
|
0.00033
|
NM_015346.4(ZFYVE26):c.2481C>A (p.Pro827=)
|
rs139283212
|
0.00033
|
NM_016729.3(FOLR1):c.396G>A (p.Val132=)
|
rs35179028
|
0.00033
|
NM_018834.6(MATR3):c.1130-5T>A
|
rs188905656
|
0.00033
|
NM_018834.6(MATR3):c.1893C>T (p.Ser631=)
|
rs143527811
|
0.00033
|
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr)
|
rs776370351
|
0.00033
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
NM_152743.4(BRAT1):c.127+15C>G
|
rs543145292
|
0.00033
|
NM_000044.6(AR):c.1616+12C>T
|
rs375988329
|
0.00032
|
NM_000061.3(BTK):c.1701A>G (p.Glu567=)
|
rs146681416
|
0.00032
|
NM_000081.4(LYST):c.4863-4G>A
|
rs201382097
|
0.00032
|
NM_000284.4(PDHA1):c.252G>A (p.Gln84=)
|
rs144828838
|
0.00032
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=)
|
rs201550267
|
0.00032
|
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly)
|
rs782598729
|
0.00032
|
NM_001130823.3(DNMT1):c.1280+14C>G
|
rs372425803
|
0.00032
|
NM_001256864.2(DNAJC6):c.194-17T>G
|
rs372128441
|
0.00032
|
NM_001330260.2(SCN8A):c.707-15A>T
|
rs149586118
|
0.00032
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=)
|
rs142437842
|
0.00032
|
NM_001367561.1(DOCK7):c.519+17T>G
|
rs745941706
|
0.00032
|
NM_001368809.2(AMPD2):c.532-18G>A
|
rs41314005
|
0.00032
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468
|
0.00032
|
NM_001846.4(COL4A2):c.4255A>G (p.Met1419Val)
|
rs531809013
|
0.00032
|
NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=)
|
rs201510187
|
0.00032
|
NM_002361.4(MAG):c.855C>T (p.Ala285=)
|
rs199720385
|
0.00032
|
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=)
|
rs200225593
|
0.00032
|
NM_003042.4(SLC6A1):c.6G>A (p.Ala2=)
|
rs6343
|
0.00032
|
NM_003072.5(SMARCA4):c.355+11G>A
|
rs368761916
|
0.00032
|
NM_004519.4(KCNQ3):c.1701-17C>T
|
rs375928058
|
0.00032
|
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys)
|
rs142016804
|
0.00032
|
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)
|
rs374163604
|
0.00032
|
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met)
|
rs149024147
|
0.00032
|
NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala)
|
rs151074395
|
0.00032
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00032
|
NM_007126.5(VCP):c.2406T>C (p.Asp802=)
|
rs145508640
|
0.00032
|
NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=)
|
rs143779557
|
0.00032
|
NM_015915.5(ATL1):c.1329T>C (p.His443=)
|
rs146164574
|
0.00032
|
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg)
|
rs200173000
|
0.00032
|
NM_021072.4(HCN1):c.2227C>G (p.Pro743Ala)
|
rs560701504
|
0.00032
|
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=)
|
rs370039255
|
0.00032
|
NM_024989.4(PGAP1):c.2630+15T>C
|
rs375452864
|
0.00032
|
NM_025137.4(SPG11):c.257+13G>A
|
rs201936649
|
0.00032
|
NM_025219.3(DNAJC5):c.*4131C>T
|
rs146360147
|
0.00032
|
NM_172107.4(KCNQ2):c.2535C>G (p.Leu845=)
|
rs199621855
|
0.00032
|
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=)
|
rs200645836
|
0.00032
|
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn)
|
rs533216340
|
0.00032
|
NM_000081.4(LYST):c.6782G>A (p.Arg2261His)
|
rs147791378
|
0.00031
|
NM_000146.4(FTL):c.-121C>T
|
rs11553228
|
0.00031
|
NM_000484.4(APP):c.2017G>A (p.Ala673Thr)
|
rs63750847
|
0.00031
|
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=)
|
rs369939991
|
0.00031
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala)
|
rs782357394
|
0.00031
|
NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=)
|
rs16036
|
0.00031
|
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=)
|
rs145172949
|
0.00031
|
NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=)
|
rs114218633
|
0.00031
|
NM_001271.4(CHD2):c.3455+19T>C
|
rs200427035
|
0.00031
|
NM_001288705.3(CSF1R):c.1510+16C>T
|
rs200626267
|
0.00031
|
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr)
|
rs566858747
|
0.00031
|
NM_001365999.1(SZT2):c.4176C>T (p.Thr1392=)
|
rs373047934
|
0.00031
|
NM_001371928.1(AHDC1):c.1536C>T (p.Arg512=)
|
rs370692975
|
0.00031
|
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=)
|
rs373127487
|
0.00031
|
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=)
|
rs151186561
|
0.00031
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
NM_003619.4(PRSS12):c.1144C>T (p.Leu382=)
|
rs146677360
|
0.00031
|
NM_003719.5(PDE8B):c.435C>T (p.Ser145=)
|
rs76299136
|
0.00031
|
NM_004181.5(UCHL1):c.609A>G (p.Glu203=)
|
rs147661219
|
0.00031
|
NM_004204.5(PIGQ):c.322G>A (p.Glu108Lys)
|
rs200388707
|
0.00031
|
NM_004380.3(CREBBP):c.3024C>T (p.Pro1008=)
|
rs144649776
|
0.00031
|
NM_004380.3(CREBBP):c.3982+9C>T
|
rs114668693
|
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_005045.4(RELN):c.2944A>C (p.Ile982Leu)
|
rs143972828
|
0.00031
|
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)
|
rs147026512
|
0.00031
|
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val)
|
rs149613347
|
0.00031
|
NM_005076.5(CNTN2):c.2469G>A (p.Gly823=)
|
rs138090348
|
0.00031
|
NM_005334.3(HCFC1):c.717C>G (p.Thr239=)
|
rs372516617
|
0.00031
|
NM_005573.4(LMNB1):c.642+10T>C
|
rs200907573
|
0.00031
|
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=)
|
rs200122106
|
0.00031
|
NM_006397.3(RNASEH2A):c.411+17T>A
|
rs185730742
|
0.00031
|
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)
|
rs148518827
|
0.00031
|
NM_006612.6(KIF1C):c.3049G>A (p.Ala1017Thr)
|
rs185185243
|
0.00031
|
NM_014249.4(NR2E3):c.966C>T (p.Cys322=)
|
rs148900690
|
0.00031
|
NM_014844.5(TECPR2):c.951+15G>T
|
rs12587242
|
0.00031
|
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)
|
rs144594804
|
0.00031
|
NM_020822.3(KCNT1):c.1338-3C>T
|
rs369562243
|
0.00031
|
NM_021098.3(CACNA1H):c.2907+18C>T
|
rs370510626
|
0.00031
|
NM_021098.3(CACNA1H):c.3745-17G>A
|
rs201602467
|
0.00031
|
NM_021098.3(CACNA1H):c.6531C>T (p.Pro2177=)
|
rs368284672
|
0.00031
|
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)
|
rs148970081
|
0.00031
|
NM_022168.4(IFIH1):c.103C>T (p.Leu35=)
|
rs75342243
|
0.00031
|
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val)
|
rs758387388
|
0.00031
|
NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=)
|
rs201495666
|
0.00031
|
NM_033305.3(VPS13A):c.8907+10T>G
|
rs373895244
|
0.00031
|
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=)
|
rs370155790
|
0.00031
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000744.7(CHRNA4):c.462G>A (p.Pro154=)
|
rs121912245
|
0.00030
|
NM_000834.5(GRIN2B):c.45G>A (p.Val15=)
|
rs374735893
|
0.00030
|
NM_001110556.2(FLNA):c.1328G>A (p.Arg443His)
|
rs782282149
|
0.00030
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=)
|
rs375503410
|
0.00030
|
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr)
|
rs147017239
|
0.00030
|
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)
|
rs16010
|
0.00030
|
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=)
|
rs146867324
|
0.00030
|
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)
|
rs201870762
|
0.00030
|
NM_001191061.2(SLC25A22):c.294-13G>A
|
rs201472482
|
0.00030
|
NM_001365536.1(SCN9A):c.4399-17_4399-16insA
|
rs569037217
|
0.00030
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00030
|
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=)
|
rs2305082
|
0.00030
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)
|
rs201879930
|
0.00030
|
NM_003900.5(SQSTM1):c.946T>C (p.Leu316=)
|
rs140315612
|
0.00030
|
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=)
|
rs781112420
|
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_014855.3(AP5Z1):c.2400G>A (p.Arg800=)
|
rs368571200
|
0.00030
|
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=)
|
rs374347802
|
0.00030
|
NM_021098.3(CACNA1H):c.4566+18G>A
|
rs376034289
|
0.00030
|
NM_032776.3(JMJD1C):c.6834C>T (p.Tyr2278=)
|
rs140575344
|
0.00030
|
NM_139318.5(KCNH5):c.1960A>G (p.Thr654Ala)
|
rs199774231
|
0.00030
|
NM_152309.3(PIK3AP1):c.2379C>T (p.Thr793=)
|
rs201824606
|
0.00030
|
NM_152722.5(HEPACAM):c.-28G>A
|
rs146644154
|
0.00030
|
NM_000061.3(BTK):c.1252T>C (p.Tyr418His)
|
rs144079566
|
0.00029
|
NM_000061.3(BTK):c.1909-9T>C
|
rs782702231
|
0.00029
|
NM_000096.4(CP):c.2997C>T (p.His999=)
|
rs147475926
|
0.00029
|
NM_000287.4(PEX6):c.25C>T (p.Leu9=)
|
rs183449855
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000391.4(TPP1):c.*241T>C
|
rs74843914
|
0.00029
|
NM_000489.6(ATRX):c.4957-20T>C
|
rs373789026
|
0.00029
|
NM_000742.4(CHRNA2):c.340-15C>A
|
rs373046238
|
0.00029
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
NM_000834.5(GRIN2B):c.3799G>T (p.Ala1267Ser)
|
rs141844705
|
0.00029
|
NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=)
|
rs146792012
|
0.00029
|
NM_000925.4(PDHB):c.204+9A>C
|
rs202068841
|
0.00029
|
NM_001029896.2(WDR45):c.825C>T (p.Ser275=)
|
rs374483460
|
0.00029
|
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile)
|
rs140401978
|
0.00029
|
NM_001110556.2(FLNA):c.2023-8C>T
|
rs587780335
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=)
|
rs201458268
|
0.00029
|
NM_001127222.2(CACNA1A):c.5133+10G>A
|
rs369033909
|
0.00029
|
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln)
|
rs141980692
|
0.00029
|
NM_001172509.2(SATB2):c.1386+18C>T
|
rs199984701
|
0.00029
|
NM_001199753.2(CPT1C):c.1017C>T (p.Gly339=)
|
rs199675613
|
0.00029
|
NM_001205293.3(CACNA1E):c.3012C>A (p.Thr1004=)
|
rs377234151
|
0.00029
|
NM_001242896.3(DEPDC5):c.193+12A>G
|
rs376099179
|
0.00029
|
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His)
|
rs201950393
|
0.00029
|
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)
|
rs143992148
|
0.00029
|
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=)
|
rs751789670
|
0.00029
|
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu)
|
rs139493302
|
0.00029
|
NM_001371928.1(AHDC1):c.225A>G (p.Pro75=)
|
rs377231405
|
0.00029
|
NM_001371928.1(AHDC1):c.657G>A (p.Thr219=)
|
rs148311907
|
0.00029
|
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
NM_001846.4(COL4A2):c.2039-3C>T
|
rs202208839
|
0.00029
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00029
|
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=)
|
rs78336563
|
0.00029
|
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=)
|
rs181403075
|
0.00029
|
NM_003070.5(SMARCA2):c.4595-7G>C
|
rs199897032
|
0.00029
|
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)
|
rs145130328
|
0.00029
|
NM_004082.5(DCTN1):c.597G>A (p.Pro199=)
|
rs143607419
|
0.00029
|
NM_004519.4(KCNQ3):c.*5018C>G
|
rs534993423
|
0.00029
|
NM_004722.4(AP4M1):c.960C>T (p.Asp320=)
|
rs371162812
|
0.00029
|
NM_005249.5(FOXG1):c.201G>T (p.Pro67=)
|
rs587780944
|
0.00029
|
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=)
|
rs377467572
|
0.00029
|
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)
|
rs373690520
|
0.00029
|
NM_005573.4(LMNB1):c.-314C>T
|
rs561989552
|
0.00029
|
NM_005629.4(SLC6A8):c.1767+15C>T
|
rs370331295
|
0.00029
|
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser)
|
rs139576809
|
0.00029
|
NM_006279.5(ST3GAL3):c.753G>A (p.Ser251=)
|
rs187276382
|
0.00029
|
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=)
|
rs148750997
|
0.00029
|
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)
|
rs189313287
|
0.00029
|
NM_014795.4(ZEB2):c.2601G>A (p.Lys867=)
|
rs139369265
|
0.00029
|
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr)
|
rs372005558
|
0.00029
|
NM_015509.4(NECAP1):c.69G>A (p.Pro23=)
|
rs149738880
|
0.00029
|
NM_018026.4(PACS1):c.2294-7_2294-6del
|
rs534796219
|
0.00029
|
NM_018206.6(VPS35):c.*346G>A
|
rs545755034
|
0.00029
|
NM_020822.3(KCNT1):c.334+10G>A
|
rs185209587
|
0.00029
|
NM_020919.4(ALS2):c.1158C>A (p.Thr386=)
|
rs565166366
|
0.00029
|
NM_021098.3(CACNA1H):c.4790G>A (p.Arg1597Gln)
|
rs370079169
|
0.00029
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
NM_032581.4(HYCC1):c.972T>G (p.Gly324=)
|
rs200916070
|
0.00029
|
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)
|
rs199682779
|
0.00029
|
NM_144599.5(NIPA1):c.*3400C>T
|
rs577663387
|
0.00029
|
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)
|
rs184693266
|
0.00029
|
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)
|
rs773242093
|
0.00029
|
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln)
|
rs138277154
|
0.00029
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00029
|
NM_198904.4(GABRG2):c.922+20G>A
|
rs11575991
|
0.00029
|
NM_205836.3(FBXO38):c.504T>C (p.Phe168=)
|
rs377754520
|
0.00029
|
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)
|
rs782134465
|
0.00028
|
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=)
|
rs140838569
|
0.00028
|
NM_000061.3(BTK):c.625G>T (p.Ala209Ser)
|
rs138352992
|
0.00028
|
NM_000156.6(GAMT):c.279C>T (p.Asp93=)
|
rs144630886
|
0.00028
|
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg)
|
rs190430477
|
0.00028
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_000744.7(CHRNA4):c.1665C>T (p.Pro555=)
|
rs199829902
|
0.00028
|
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)
|
rs1042870
|
0.00028
|
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=)
|
rs781805662
|
0.00028
|
NM_001112741.2(KCNC1):c.750C>T (p.Gly250=)
|
rs147271572
|
0.00028
|
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=)
|
rs150623275
|
0.00028
|
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)
|
rs145775351
|
0.00028
|
NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr)
|
rs193153262
|
0.00028
|
NM_001375883.1(GPR161):c.-5T>A
|
rs200635937
|
0.00028
|
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val)
|
rs115940994
|
0.00028
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
NM_001429.4(EP300):c.2380-18T>C
|
rs189468196
|
0.00028
|
NM_003334.4(UBA1):c.132C>T (p.Asn44=)
|
rs368727585
|
0.00028
|
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)
|
rs142530390
|
0.00028
|
NM_004082.5(DCTN1):c.558G>A (p.Pro186=)
|
rs201078804
|
0.00028
|
NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln)
|
rs762238231
|
0.00028
|
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=)
|
rs781955031
|
0.00028
|
NM_005629.4(SLC6A8):c.1584G>A (p.Pro528=)
|
rs201838389
|
0.00028
|
NM_014846.4(WASHC5):c.12T>C (p.Phe4=)
|
rs202120400
|
0.00028
|
NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys)
|
rs137920574
|
0.00028
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_018206.6(VPS35):c.151G>A (p.Gly51Ser)
|
rs193077277
|
0.00028
|
NM_018834.6(MATR3):c.1183-5G>A
|
rs369464069
|
0.00028
|
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=)
|
rs370666430
|
0.00028
|
NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=)
|
rs144068763
|
0.00028
|
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)
|
rs62626272
|
0.00028
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00028
|
NM_032737.4(LMNB2):c.11C>T (p.Pro4Leu)
|
rs1255813804
|
0.00028
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
NM_173728.4(ARHGEF15):c.1809G>C (p.Gly603=)
|
rs116091376
|
0.00028
|
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
|
rs370700841
|
0.00027
|
NM_000081.4(LYST):c.368A>G (p.His123Arg)
|
rs3768067
|
0.00027
|
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val)
|
rs371580333
|
0.00027
|
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=)
|
rs142646795
|
0.00027
|
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys)
|
rs200884216
|
0.00027
|
NM_001077350.3(NPRL3):c.1351+7C>T
|
rs376215928
|
0.00027
|
NM_001112741.2(KCNC1):c.1584C>T (p.Pro528=)
|
rs1044982783
|
0.00027
|
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)
|
rs367772623
|
0.00027
|
NM_001130823.3(DNMT1):c.2010C>T (p.Gly670=)
|
rs374476495
|
0.00027
|
NM_001166114.2(PNPLA6):c.316-18C>T
|
rs530792429
|
0.00027
|
NM_001271.4(CHD2):c.2728-3C>T
|
rs2272460
|
0.00027
|
NM_001846.4(COL4A2):c.4428G>A (p.Pro1476=)
|
rs371857202
|
0.00027
|
NM_003042.4(SLC6A1):c.1527G>A (p.Ala509=)
|
rs34969656
|
0.00027
|
NM_004738.5(VAPB):c.*5005T>A
|
rs146687585
|
0.00027
|
NM_005076.5(CNTN2):c.2125+8T>A
|
rs572060537
|
0.00027
|
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)
|
rs199798029
|
0.00027
|
NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=)
|
rs144272459
|
0.00027
|
NM_006087.4(TUBB4A):c.*725G>A
|
rs370034465
|
0.00027
|
NM_006772.3(SYNGAP1):c.1136C>T (p.Ser379Leu)
|
rs371883908
|
0.00027
|
NM_014855.3(AP5Z1):c.490A>G (p.Ser164Gly)
|
rs202169962
|
0.00027
|
NM_018026.4(PACS1):c.1881T>C (p.Ala627=)
|
rs550567165
|
0.00027
|
NM_018723.4(RBFOX1):c.144C>T (p.Pro48=)
|
rs61742359
|
0.00027
|
NM_018834.6(MATR3):c.1130-4A>G
|
rs371701183
|
0.00027
|
NM_018834.6(MATR3):c.1435-20G>A
|
rs75623350
|
0.00027
|
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=)
|
rs146032445
|
0.00027
|
NM_021098.3(CACNA1H):c.1310G>A (p.Arg437Gln)
|
rs59461207
|
0.00027
|
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=)
|
rs534974071
|
0.00027
|
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys)
|
rs139646537
|
0.00027
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu)
|
rs201524659
|
0.00027
|
NM_182961.4(SYNE1):c.12529-12G>A
|
rs367782368
|
0.00027
|
NM_182961.4(SYNE1):c.3396-17T>A
|
rs144838502
|
0.00027
|
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=)
|
rs188913729
|
0.00027
|
NM_000096.4(CP):c.981G>A (p.Val327=)
|
rs144467178
|
0.00026
|
NM_000284.4(PDHA1):c.117+19T>A
|
rs373859720
|
0.00026
|
NM_000284.4(PDHA1):c.396A>C (p.Arg132=)
|
rs757654963
|
0.00026
|
NM_000702.4(ATP1A2):c.*142A>G
|
rs117680524
|
0.00026
|
NM_000744.7(CHRNA4):c.1550C>T (p.Ser517Leu)
|
rs45622132
|
0.00026
|
NM_000744.7(CHRNA4):c.76+14C>A
|
rs6090386
|
0.00026
|
NM_000815.5(GABRD):c.264G>A (p.Thr88=)
|
rs200593470
|
0.00026
|
NM_000834.5(GRIN2B):c.2703G>A (p.Leu901=)
|
rs145005918
|
0.00026
|
NM_001044.5(SLC6A3):c.1767+13A>G
|
rs28363130
|
0.00026
|
NM_001110556.2(FLNA):c.2656+18A>G
|
rs375154492
|
0.00026
|
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly)
|
rs782051125
|
0.00026
|
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=)
|
rs372812865
|
0.00026
|
NM_001130438.3(SPTAN1):c.4595+4G>T
|
rs185925523
|
0.00026
|
NM_001166114.2(PNPLA6):c.3699+17G>A
|
rs141831508
|
0.00026
|
NM_001242896.3(DEPDC5):c.957G>A (p.Lys319=)
|
rs545689068
|
0.00026
|
NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=)
|
rs141545390
|
0.00026
|
NM_001271.4(CHD2):c.3315G>A (p.Thr1105=)
|
rs138979360
|
0.00026
|
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr)
|
rs147119902
|
0.00026
|
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)
|
rs149736203
|
0.00026
|
NM_002641.4(PIGA):c.525T>C (p.Leu175=)
|
rs61751426
|
0.00026
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_003719.5(PDE8B):c.591-7A>G
|
rs200516880
|
0.00026
|
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=)
|
rs200388590
|
0.00026
|
NM_005045.4(RELN):c.2868C>T (p.His956=)
|
rs362694
|
0.00026
|
NM_005045.4(RELN):c.3060C>T (p.Asp1020=)
|
rs115886170
|
0.00026
|
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser)
|
rs115577014
|
0.00026
|
NM_005120.3(MED12):c.4528-19T>C
|
rs370859385
|
0.00026
|
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro)
|
rs587783633
|
0.00026
|
NM_005359.6(SMAD4):c.*1659C>A
|
rs574896468
|
0.00026
|
NM_005506.4(SCARB2):c.275+7C>T
|
rs777137419
|
0.00026
|
NM_006015.6(ARID1A):c.1131C>T (p.Thr377=)
|
rs532591067
|
0.00026
|
NM_006087.4(TUBB4A):c.1095G>A (p.Ala365=)
|
rs148507956
|
0.00026
|
NM_007327.4(GRIN1):c.1044C>T (p.Phe348=)
|
rs143483243
|
0.00026
|
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser)
|
rs143854197
|
0.00026
|
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala)
|
rs140593583
|
0.00026
|
NM_014844.5(TECPR2):c.2449G>A (p.Val817Met)
|
rs199738023
|
0.00026
|
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)
|
rs369470593
|
0.00026
|
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly)
|
rs142134306
|
0.00026
|
NM_015100.4(POGZ):c.2235-10T>C
|
rs557225984
|
0.00026
|
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=)
|
rs200856791
|
0.00026
|
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)
|
rs368182922
|
0.00026
|
NM_018026.4(PACS1):c.1839-19C>T
|
rs201219981
|
0.00026
|
NM_018026.4(PACS1):c.637G>A (p.Val213Met)
|
rs142653069
|
0.00026
|
NM_018723.4(RBFOX1):c.70C>T (p.Pro24Ser)
|
rs148751394
|
0.00026
|
NM_018965.4(TREM2):c.668C>T (p.Thr223Ile)
|
rs138355759
|
0.00026
|
NM_021098.3(CACNA1H):c.1389C>T (p.Tyr463=)
|
rs375590164
|
0.00026
|
NM_021098.3(CACNA1H):c.3154+13G>A
|
rs376515304
|
0.00026
|
NM_021098.3(CACNA1H):c.3745-18C>T
|
rs570915422
|
0.00026
|
NM_021098.3(CACNA1H):c.713T>G (p.Phe238Cys)
|
rs59084089
|
0.00026
|
NM_021625.5(TRPV4):c.501C>T (p.Asp167=)
|
rs77680510
|
0.00026
|
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser)
|
rs185665930
|
0.00026
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
NM_032776.3(JMJD1C):c.18G>A (p.Arg6=)
|
rs200305143
|
0.00026
|
NM_033305.3(VPS13A):c.6905G>A (p.Ser2302Asn)
|
rs188070090
|
0.00026
|
NM_144599.5(NIPA1):c.*11G>C
|
rs188393827
|
0.00026
|
NM_152296.5(ATP1A3):c.1192+6C>T
|
rs367771319
|
0.00026
|
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=)
|
rs369118921
|
0.00026
|
NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser)
|
rs35519605
|
0.00026
|
NM_173728.4(ARHGEF15):c.2239T>C (p.Cys747Arg)
|
rs202083675
|
0.00026
|
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=)
|
rs151034170
|
0.00026
|
NM_198578.4(LRRK2):c.364C>T (p.Leu122=)
|
rs41286468
|
0.00026
|
NM_198994.3(TGM6):c.1171G>A (p.Val391Met)
|
rs116904482
|
0.00026
|
NM_000742.4(CHRNA2):c.1437C>T (p.His479=)
|
rs374849310
|
0.00025
|
NM_001010867.4(IBA57):c.279C>G (p.Arg93=)
|
rs750061256
|
0.00025
|
NM_001044.5(SLC6A3):c.1269+12G>A
|
rs367687282
|
0.00025
|
NM_001099403.2(PRDM8):c.117T>C (p.Ala39=)
|
rs369098269
|
0.00025
|
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)
|
rs201908251
|
0.00025
|
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val)
|
rs15999
|
0.00025
|
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)
|
rs140731963
|
0.00025
|
NM_001172509.2(SATB2):c.151G>A (p.Val51Met)
|
rs540871216
|
0.00025
|
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu)
|
rs143490560
|
0.00025
|
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val)
|
rs138482029
|
0.00025
|
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=)
|
rs145645897
|
0.00025
|
NM_005027.4(PIK3R2):c.323-16_323-15del
|
rs374033727
|
0.00025
|
NM_005045.4(RELN):c.1144-15T>C
|
rs2301560
|
0.00025
|
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly)
|
rs138598422
|
0.00025
|
NM_005120.3(MED12):c.736-14C>G
|
rs373707149
|
0.00025
|
NM_006030.4(CACNA2D2):c.561A>G (p.Leu187=)
|
rs587661537
|
0.00025
|
NM_006765.4(TUSC3):c.1028+11T>C
|
rs187670751
|
0.00025
|
NM_007327.4(GRIN1):c.693A>C (p.Val231=)
|
rs201818201
|
0.00025
|
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=)
|
rs201180901
|
0.00025
|
NM_021098.3(CACNA1H):c.5989G>A (p.Ala1997Thr)
|
rs376628149
|
0.00025
|
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg)
|
rs201241092
|
0.00025
|
NM_024570.4(RNASEH2B):c.788C>G (p.Thr263Ser)
|
rs183734174
|
0.00025
|
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val)
|
rs147962000
|
0.00025
|
NM_030930.4(UNC93B1):c.1713T>C (p.Pro571=)
|
rs565846179
|
0.00025
|
NM_032737.4(LMNB2):c.1247G>T (p.Arg416Leu)
|
rs200293412
|
0.00025
|
NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp)
|
rs148936043
|
0.00025
|
NM_145725.3(TRAF3):c.1092G>A (p.Leu364=)
|
rs201374351
|
0.00025
|
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)
|
rs201483764
|
0.00025
|
NM_173354.5(SIK1):c.546G>T (p.Thr182=)
|
rs146068550
|
0.00025
|
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe)
|
rs140135976
|
0.00025
|
NM_182961.4(SYNE1):c.23791-13C>T
|
rs371245873
|
0.00025
|
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val)
|
rs34594498
|
0.00025
|
NM_198578.4(LRRK2):c.7462+15G>C
|
rs200420425
|
0.00025
|
NM_205836.3(FBXO38):c.2985C>T (p.Pro995=)
|
rs144172824
|
0.00025
|
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu)
|
rs368606000
|
0.00024
|
NM_000044.6(AR):c.528C>A (p.Ser176Arg)
|
rs777131133
|
0.00024
|
NM_000310.4(PPT1):c.83A>G (p.Asp28Gly)
|
rs749909390
|
0.00024
|
NM_000368.5(TSC1):c.*2628G>C
|
rs189852768
|
0.00024
|
NM_000466.3(PEX1):c.3526G>T (p.Val1176Leu)
|
rs200059929
|
0.00024
|
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)
|
rs186742436
|
0.00024
|
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=)
|
rs138886952
|
0.00024
|
NM_001003800.2(BICD2):c.1842A>G (p.Pro614=)
|
rs200912578
|
0.00024
|
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys)
|
rs201055779
|
0.00024
|
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)
|
rs145870898
|
0.00024
|
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=)
|
rs143904813
|
0.00024
|
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys)
|
rs138841970
|
0.00024
|
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=)
|
rs148846694
|
0.00024
|
NM_001205293.3(CACNA1E):c.3183C>G (p.Asp1061Glu)
|
rs556267480
|
0.00024
|
NM_001205293.3(CACNA1E):c.3543G>A (p.Glu1181=)
|
rs371345680
|
0.00024
|
NM_001288705.3(CSF1R):c.*532G>A
|
rs527300272
|
0.00024
|
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=)
|
rs201473442
|
0.00024
|
NM_001371928.1(AHDC1):c.782C>T (p.Ala261Val)
|
rs144941412
|
0.00024
|
NM_001378120.1(MBD5):c.69G>A (p.Val23=)
|
rs151204004
|
0.00024
|
NM_001540.5(HSPB1):c.24C>T (p.Phe8=)
|
rs201769668
|
0.00024
|
NM_001845.6(COL4A1):c.388-11T>C
|
rs201801894
|
0.00024
|
NM_001845.6(COL4A1):c.831A>G (p.Lys277=)
|
rs140978802
|
0.00024
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850
|
0.00024
|
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys)
|
rs200203294
|
0.00024
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser)
|
rs146990134
|
0.00024
|
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr)
|
rs149478641
|
0.00024
|
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala)
|
rs72466493
|
0.00024
|
NM_004385.5(VCAN):c.9025G>A (p.Glu3009Lys)
|
rs146090207
|
0.00024
|
NM_004565.3(PEX14):c.84+17T>C
|
rs373584636
|
0.00024
|
NM_004960.4(FUS):c.764+12A>C
|
rs143916861
|
0.00024
|
NM_005045.4(RELN):c.59C>T (p.Thr20Met)
|
rs145135688
|
0.00024
|
NM_005045.4(RELN):c.6278A>C (p.His2093Pro)
|
rs149152189
|
0.00024
|
NM_005629.4(SLC6A8):c.1020C>T (p.Asp340=)
|
rs144252036
|
0.00024
|
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val)
|
rs145438966
|
0.00024
|
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg)
|
rs782560726
|
0.00024
|
NM_007126.5(VCP):c.1482+18A>G
|
rs370501665
|
0.00024
|
NM_007375.4(TARDBP):c.*2740G>A
|
rs566658679
|
0.00024
|
NM_013275.6(ANKRD11):c.5553C>T (p.Tyr1851=)
|
rs372041087
|
0.00024
|
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)
|
rs115071007
|
0.00024
|
NM_016219.5(MAN1B1):c.1445+19C>T
|
rs374413288
|
0.00024
|
NM_018026.4(PACS1):c.1617C>T (p.His539=)
|
rs113972076
|
0.00024
|
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr)
|
rs151250620
|
0.00024
|
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=)
|
rs374429090
|
0.00024
|
NM_020822.3(KCNT1):c.3502+18G>A
|
rs374991913
|
0.00024
|
NM_021098.3(CACNA1H):c.2604-17C>A
|
rs781633068
|
0.00024
|
NM_021098.3(CACNA1H):c.6517C>T (p.Pro2173Ser)
|
rs200675829
|
0.00024
|
NM_032776.3(JMJD1C):c.3288A>G (p.Thr1096=)
|
rs553346839
|
0.00024
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_171998.4(RAB39B):c.543A>G (p.Thr181=)
|
rs369970931
|
0.00024
|
NM_182961.4(SYNE1):c.24977-1702G>A
|
rs767684285
|
0.00024
|
NM_198904.4(GABRG2):c.769+20A>C
|
rs182866753
|
0.00024
|
NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu)
|
rs183670042
|
0.00024
|
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)
|
rs782628755
|
0.00023
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)
|
rs200219480
|
0.00023
|
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=)
|
rs369973813
|
0.00023
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)
|
rs148659669
|
0.00023
|
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=)
|
rs148929192
|
0.00023
|
NM_001042432.2(CLN3):c.790+16C>A
|
rs200731769
|
0.00023
|
NM_001099922.3(ALG13):c.886-16C>A
|
rs780688383
|
0.00023
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu)
|
rs137853319
|
0.00023
|
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=)
|
rs572036869
|
0.00023
|
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=)
|
rs142830725
|
0.00023
|
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile)
|
rs201213597
|
0.00023
|
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val)
|
rs62621089
|
0.00023
|
NM_001134407.3(GRIN2A):c.*3483C>T
|
rs137977249
|
0.00023
|
NM_001244008.2(KIF1A):c.3053A>C (p.His1018Pro)
|
rs201846946
|
0.00023
|
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr)
|
rs147466101
|
0.00023
|
NM_001288705.3(CSF1R):c.593-9C>T
|
rs191671408
|
0.00023
|
NM_001330260.2(SCN8A):c.4969C>T (p.Leu1657=)
|
rs374755275
|
0.00023
|
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=)
|
rs183572405
|
0.00023
|
NM_002578.5(PAK3):c.-63A>G
|
rs192192146
|
0.00023
|
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=)
|
rs145435121
|
0.00023
|
NM_003334.4(UBA1):c.1296C>T (p.Leu432=)
|
rs147825775
|
0.00023
|
NM_003334.4(UBA1):c.2793G>T (p.Leu931=)
|
rs782340410
|
0.00023
|
NM_004082.5(DCTN1):c.1095G>A (p.Glu365=)
|
rs115088049
|
0.00023
|
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=)
|
rs754282387
|
0.00023
|
NM_004738.5(VAPB):c.*2592G>A
|
rs143902869
|
0.00023
|
NM_004738.5(VAPB):c.105G>A (p.Pro35=)
|
rs141383583
|
0.00023
|
NM_005051.3(QARS1):c.1388+7G>A
|
rs201234869
|
0.00023
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=)
|
rs376385129
|
0.00023
|
NM_005629.4(SLC6A8):c.807C>T (p.Tyr269=)
|
rs141219551
|
0.00023
|
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=)
|
rs779283100
|
0.00023
|
NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys)
|
rs147724326
|
0.00023
|
NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn)
|
rs200483534
|
0.00023
|
NM_014795.4(ZEB2):c.462G>A (p.Glu154=)
|
rs372940559
|
0.00023
|
NM_014946.4(SPAST):c.1593A>G (p.Gln531=)
|
rs754291673
|
0.00023
|
NM_015100.4(POGZ):c.3024A>G (p.Arg1008=)
|
rs147095604
|
0.00023
|
NM_020822.3(KCNT1):c.1620-16C>G
|
rs369334561
|
0.00023
|
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys)
|
rs138109494
|
0.00023
|
NM_021072.4(HCN1):c.1626C>T (p.Cys542=)
|
rs150863293
|
0.00023
|
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)
|
rs143449578
|
0.00023
|
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly)
|
rs778734352
|
0.00023
|
NM_152296.5(ATP1A3):c.1193-4C>G
|
rs200111818
|
0.00023
|
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu)
|
rs34410987
|
0.00023
|
NM_198578.4(LRRK2):c.2594C>T (p.Ser865Phe)
|
rs142700458
|
0.00023
|
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=)
|
rs144338942
|
0.00023
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
NM_000052.7(ATP7A):c.177A>G (p.Pro59=)
|
rs142463642
|
0.00022
|
NM_000284.4(PDHA1):c.899+18G>A
|
rs370785632
|
0.00022
|
NM_000311.5(PRNP):c.246A>G (p.Gly82=)
|
rs62643364
|
0.00022
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000487.6(ARSA):c.982G>A (p.Val328Met)
|
rs143994992
|
0.00022
|
NM_000533.5(PLP1):c.579C>T (p.Thr193=)
|
rs778217267
|
0.00022
|
NM_001017989.3(OPA3):c.486C>T (p.His162=)
|
rs201078416
|
0.00022
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
rs201824641
|
0.00022
|
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met)
|
rs201603843
|
0.00022
|
NM_001110792.2(MECP2):c.*363G>C
|
rs62621675
|
0.00022
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001110792.2(MECP2):c.876C>T (p.Ala292=)
|
rs61750251
|
0.00022
|
NM_001127178.3(PIGG):c.2279G>A (p.Arg760His)
|
rs200170221
|
0.00022
|
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=)
|
rs142385746
|
0.00022
|
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=)
|
rs117614529
|
0.00022
|
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=)
|
rs372083517
|
0.00022
|
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=)
|
rs368449473
|
0.00022
|
NM_001351169.2(NT5C2):c.634-14T>G
|
rs200522283
|
0.00022
|
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)
|
rs141855494
|
0.00022
|
NM_001378452.1(ITPR1):c.*1008A>G
|
rs141084091
|
0.00022
|
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=)
|
rs371986594
|
0.00022
|
NM_001378452.1(ITPR1):c.882C>T (p.Gly294=)
|
rs370157764
|
0.00022
|
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)
|
rs528149001
|
0.00022
|
NM_001845.6(COL4A1):c.553-8C>T
|
rs199534388
|
0.00022
|
NM_001845.6(COL4A1):c.781-12G>A
|
rs202198648
|
0.00022
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429
|
0.00022
|
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)
|
rs60203778
|
0.00022
|
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=)
|
rs140322802
|
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_004408.4(DNM1):c.2420C>G (p.Ser807Cys)
|
rs935756107
|
0.00022
|
NM_004738.5(VAPB):c.528G>A (p.Leu176=)
|
rs199921117
|
0.00022
|
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp)
|
rs144387303
|
0.00022
|
NM_006612.6(KIF1C):c.184-8T>C
|
rs192384276
|
0.00022
|
NM_012281.3(KCND2):c.670C>A (p.Arg224=)
|
rs201072665
|
0.00022
|
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile)
|
rs149152296
|
0.00022
|
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe)
|
rs201109457
|
0.00022
|
NM_014855.3(AP5Z1):c.790+18A>T
|
rs150460713
|
0.00022
|
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala)
|
rs138195434
|
0.00022
|
NM_015338.6(ASXL1):c.2526T>C (p.Asn842=)
|
rs144841799
|
0.00022
|
NM_016032.4(ZDHHC9):c.978+15C>T
|
rs367975001
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_017882.3(CLN6):c.84-18C>T
|
rs201554701
|
0.00022
|
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys)
|
rs781050726
|
0.00022
|
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser)
|
rs560915333
|
0.00022
|
NM_021098.3(CACNA1H):c.177C>T (p.Gly59=)
|
rs775960864
|
0.00022
|
NM_021098.3(CACNA1H):c.1782C>T (p.Ala594=)
|
rs772111884
|
0.00022
|
NM_022168.4(IFIH1):c.1623T>C (p.Ile541=)
|
rs200947696
|
0.00022
|
NM_031206.7(LAS1L):c.1893A>C (p.Gly631=)
|
rs200815004
|
0.00022
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu)
|
rs201701585
|
0.00022
|
NM_173354.5(SIK1):c.1463-3C>T
|
rs372615326
|
0.00022
|
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)
|
rs142941035
|
0.00022
|
NM_000044.6(AR):c.2388A>G (p.Gly796=)
|
rs756432037
|
0.00021
|
NM_000368.5(TSC1):c.*4788A>C
|
rs576342925
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser)
|
rs200857848
|
0.00021
|
NM_000487.6(ARSA):c.636C>T (p.Ala212=)
|
rs200182983
|
0.00021
|
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=)
|
rs374749325
|
0.00021
|
NM_000744.7(CHRNA4):c.126G>A (p.Lys42=)
|
rs149588336
|
0.00021
|
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His)
|
rs143103435
|
0.00021
|
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile)
|
rs150259704
|
0.00021
|
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=)
|
rs567071026
|
0.00021
|
NM_001099922.3(ALG13):c.2933-14A>G
|
rs755886617
|
0.00021
|
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)
|
rs61751442
|
0.00021
|
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=)
|
rs148554113
|
0.00021
|
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile)
|
rs555768104
|
0.00021
|
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=)
|
rs200471732
|
0.00021
|
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=)
|
rs75961715
|
0.00021
|
NM_001199753.2(CPT1C):c.855C>T (p.Arg285=)
|
rs140099471
|
0.00021
|
NM_001205293.3(CACNA1E):c.5267+20G>A
|
rs375721145
|
0.00021
|
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)
|
rs199996308
|
0.00021
|
NM_001271.4(CHD2):c.1017G>A (p.Glu339=)
|
rs141957556
|
0.00021
|
NM_001282531.3(ADNP):c.2310T>C (p.Phe770=)
|
rs189595164
|
0.00021
|
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=)
|
rs371902632
|
0.00021
|
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=)
|
rs757521991
|
0.00021
|
NM_001371928.1(AHDC1):c.2538G>A (p.Ser846=)
|
rs202137607
|
0.00021
|
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu)
|
rs138639760
|
0.00021
|
NM_001378969.1(KCND3):c.870G>T (p.Arg290=)
|
rs200894990
|
0.00021
|
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=)
|
rs150924296
|
0.00021
|
NM_001429.4(EP300):c.6043A>G (p.Met2015Val)
|
rs1351718424
|
0.00021
|
NM_003070.5(SMARCA2):c.3685-6C>A
|
rs201731141
|
0.00021
|
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=)
|
rs756224211
|
0.00021
|
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)
|
rs140758033
|
0.00021
|
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp)
|
rs145808703
|
0.00021
|
NM_004380.3(CREBBP):c.4560+14A>G
|
rs200934101
|
0.00021
|
NM_004519.4(KCNQ3):c.2097C>T (p.Phe699=)
|
rs139678098
|
0.00021
|
NM_004565.3(PEX14):c.400C>G (p.Leu134Val)
|
rs140476337
|
0.00021
|
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser)
|
rs201422815
|
0.00021
|
NM_005249.5(FOXG1):c.181C>T (p.Pro61Ser)
|
rs762634382
|
0.00021
|
NM_005359.6(SMAD4):c.*5801T>C
|
rs577928234
|
0.00021
|
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)
|
rs199634245
|
0.00021
|
NM_005591.4(MRE11):c.845+11T>C
|
rs140145979
|
0.00021
|
NM_005629.4(SLC6A8):c.645-14C>T
|
rs782227426
|
0.00021
|
NM_005629.4(SLC6A8):c.819C>T (p.Val273=)
|
rs143750068
|
0.00021
|
NM_006267.5(RANBP2):c.2751T>C (p.Tyr917=)
|
rs140567791
|
0.00021
|
NM_006950.3(SYN1):c.1055+12G>A
|
rs373071109
|
0.00021
|
NM_007327.4(GRIN1):c.394-19G>A
|
rs371244693
|
0.00021
|
NM_012193.4(FZD4):c.*1481C>T
|
rs149837228
|
0.00021
|
NM_014365.2(HSPB8):c.-457A>G
|
rs564088535
|
0.00021
|
NM_014844.5(TECPR2):c.2280C>T (p.His760=)
|
rs61744796
|
0.00021
|
NM_016169.4(SUFU):c.6G>T (p.Ala2=)
|
rs746555296
|
0.00021
|
NM_017791.3(FLVCR2):c.*910C>A
|
rs549933844
|
0.00021
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
0.00021
|
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)
|
rs140687324
|
0.00021
|
NM_020708.5(SLC12A5):c.2547+14G>A
|
rs368044730
|
0.00021
|
NM_020822.3(KCNT1):c.1008C>T (p.Cys336=)
|
rs540422455
|
0.00021
|
NM_020822.3(KCNT1):c.1620-17C>T
|
rs376069264
|
0.00021
|
NM_021072.4(HCN1):c.259C>T (p.Pro87Ser)
|
rs370113959
|
0.00021
|
NM_021098.3(CACNA1H):c.314T>G (p.Val105Gly)
|
rs57552791
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)
|
rs144001072
|
0.00021
|
NM_022168.4(IFIH1):c.1093A>G (p.Lys365Glu)
|
rs117608083
|
0.00021
|
NM_022168.4(IFIH1):c.1642-20A>C
|
rs191343755
|
0.00021
|
NM_022168.4(IFIH1):c.453+5G>C
|
rs548027236
|
0.00021
|
NM_032737.4(LMNB2):c.1482+16G>A
|
rs183380570
|
0.00021
|
NM_130837.3(OPA1):c.*2115G>A
|
rs144079165
|
0.00021
|
NM_139318.5(KCNH5):c.736G>T (p.Ala246Ser)
|
rs114447363
|
0.00021
|
NM_144599.5(NIPA1):c.*1395C>T
|
rs537516417
|
0.00021
|
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)
|
rs375255226
|
0.00021
|
NM_152415.3(VPS37A):c.418C>T (p.Leu140=)
|
rs143689645
|
0.00021
|
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=)
|
rs142850229
|
0.00021
|
NM_173728.4(ARHGEF15):c.708G>A (p.Arg236=)
|
rs34046779
|
0.00021
|
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)
|
rs200880341
|
0.00021
|
NM_198994.3(TGM6):c.940G>A (p.Val314Met)
|
rs202184911
|
0.00021
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
|
rs61053012
|
0.00020
|
NM_000489.6(ATRX):c.1467C>T (p.Thr489=)
|
rs199929884
|
0.00020
|
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln)
|
rs143413618
|
0.00020
|
NM_001003800.2(BICD2):c.1192C>T (p.Arg398Trp)
|
rs189266003
|
0.00020
|
NM_001077350.3(NPRL3):c.767+19G>A
|
rs112754051
|
0.00020
|
NM_001099922.3(ALG13):c.2269A>G (p.Met757Val)
|
rs1451116623
|
0.00020
|
NM_001110556.2(FLNA):c.732C>T (p.Pro244=)
|
rs371092631
|
0.00020
|
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)
|
rs61752980
|
0.00020
|
NM_001110792.2(MECP2):c.462C>T (p.Phe154=)
|
rs61748397
|
0.00020
|
NM_001127178.3(PIGG):c.588G>A (p.Thr196=)
|
rs149455987
|
0.00020
|
NM_001127644.2(GABRA1):c.74+19A>G
|
rs370522819
|
0.00020
|
NM_001130438.3(SPTAN1):c.7365C>T (p.Asp2455=)
|
rs142777123
|
0.00020
|
NM_001166114.2(PNPLA6):c.4024-13C>T
|
rs78093267
|
0.00020
|
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)
|
rs201566142
|
0.00020
|
NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val)
|
rs202226316
|
0.00020
|
NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu)
|
rs142732858
|
0.00020
|
NM_001323289.2(CDKL5):c.2276+12G>C
|
rs372909446
|
0.00020
|
NM_001353921.2(ARHGEF9):c.946-4C>A
|
rs56398019
|
0.00020
|
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe)
|
rs201695275
|
0.00020
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
NM_001429.4(EP300):c.324C>T (p.Ala108=)
|
rs138876937
|
0.00020
|
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)
|
rs377122126
|
0.00020
|
NM_001845.6(COL4A1):c.4250-12C>T
|
rs202055679
|
0.00020
|
NM_002641.4(PIGA):c.273C>T (p.Tyr91=)
|
rs61730284
|
0.00020
|
NM_003001.5(SDHC):c.120G>A (p.Arg40=)
|
rs36097930
|
0.00020
|
NM_003793.4(CTSF):c.45G>T (p.Pro15=)
|
rs117792851
|
0.00020
|
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=)
|
rs769657433
|
0.00020
|
NM_005120.3(MED12):c.2055+19G>A
|
rs373450304
|
0.00020
|
NM_005120.3(MED12):c.934G>C (p.Val312Leu)
|
rs377403264
|
0.00020
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=)
|
rs200345511
|
0.00020
|
NM_006087.4(TUBB4A):c.1299C>T (p.Gly433=)
|
rs142792302
|
0.00020
|
NM_006459.4(ERLIN1):c.276A>G (p.Glu92=)
|
rs139168020
|
0.00020
|
NM_006772.3(SYNGAP1):c.2016G>A (p.Thr672=)
|
rs57365292
|
0.00020
|
NM_013275.6(ANKRD11):c.275G>A (p.Arg92Gln)
|
rs143894223
|
0.00020
|
NM_013275.6(ANKRD11):c.5073G>A (p.Ala1691=)
|
rs192176841
|
0.00020
|
NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=)
|
rs200783129
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_021625.5(TRPV4):c.1584+13C>T
|
rs199712027
|
0.00020
|
NM_022464.5(SIL1):c.1232G>A (p.Arg411His)
|
rs192255604
|
0.00020
|
NM_032581.4(HYCC1):c.831+10T>C
|
rs199912375
|
0.00020
|
NM_144599.5(NIPA1):c.801G>T (p.Val267=)
|
rs185222838
|
0.00020
|
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=)
|
rs201735478
|
0.00020
|
NM_205836.3(FBXO38):c.702A>G (p.Leu234=)
|
rs144011381
|
0.00020
|
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=)
|
rs150878397
|
0.00019
|
NM_000044.6(AR):c.1746C>T (p.Val582=)
|
rs145171897
|
0.00019
|
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala)
|
rs187435179
|
0.00019
|
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser)
|
rs200636353
|
0.00019
|
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr)
|
rs141467566
|
0.00019
|
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu)
|
rs187733403
|
0.00019
|
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=)
|
rs201685102
|
0.00019
|
NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=)
|
rs369288905
|
0.00019
|
NM_001044.5(SLC6A3):c.1137C>T (p.Ile379=)
|
rs201605046
|
0.00019
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)
|
rs199530601
|
0.00019
|
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)
|
rs781816931
|
0.00019
|
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=)
|
rs63586860
|
0.00019
|
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu)
|
rs61749739
|
0.00019
|
NM_001111.5(ADAR):c.1887C>G (p.Ser629=)
|
rs747820726
|
0.00019
|
NM_001112741.2(KCNC1):c.717C>T (p.Ala239=)
|
rs143670270
|
0.00019
|
NM_001127222.2(CACNA1A):c.4866+13T>C
|
rs368876802
|
0.00019
|
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)
|
rs17846921
|
0.00019
|
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val)
|
rs559839676
|
0.00019
|
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=)
|
rs146150071
|
0.00019
|
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=)
|
rs373491498
|
0.00019
|
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)
|
rs367776636
|
0.00019
|
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=)
|
rs369470867
|
0.00019
|
NM_001130823.3(DNMT1):c.4077G>C (p.Val1359=)
|
rs577069147
|
0.00019
|
NM_001134407.3(GRIN2A):c.2007+10C>T
|
rs368110989
|
0.00019
|
NM_001166114.2(PNPLA6):c.2818-4C>T
|
rs533705093
|
0.00019
|
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=)
|
rs150824088
|
0.00019
|
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=)
|
rs148670169
|
0.00019
|
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)
|
rs201312113
|
0.00019
|
NM_001242896.3(DEPDC5):c.3331-19A>G
|
rs377292271
|
0.00019
|
NM_001242896.3(DEPDC5):c.3643G>A (p.Val1215Met)
|
rs201603222
|
0.00019
|
NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met)
|
rs145970823
|
0.00019
|
NM_001282531.3(ADNP):c.2749C>T (p.Pro917Ser)
|
rs142988030
|
0.00019
|
NM_001351169.2(NT5C2):c.540-4G>A
|
rs201261415
|
0.00019
|
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)
|
rs200826539
|
0.00019
|
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=)
|
rs199673396
|
0.00019
|
NM_001367561.1(DOCK7):c.38+12G>C
|
rs1052964502
|
0.00019
|
NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=)
|
rs202231787
|
0.00019
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_001377265.1(MAPT):c.643C>T (p.Pro215Ser)
|
rs151115928
|
0.00019
|
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)
|
rs76626268
|
0.00019
|
NM_001378969.1(KCND3):c.789C>T (p.Asp263=)
|
rs373264592
|
0.00019
|
NM_001385875.1(ZFYVE27):c.*778C>T
|
rs548911456
|
0.00019
|
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu)
|
rs193026103
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_002180.3(IGHMBP2):c.366C>T (p.His122=)
|
rs144401213
|
0.00019
|
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met)
|
rs143797398
|
0.00019
|
NM_003072.5(SMARCA4):c.4170+16G>A
|
rs191812860
|
0.00019
|
NM_003119.4(SPG7):c.2181+19G>A
|
rs201539829
|
0.00019
|
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)
|
rs199931327
|
0.00019
|
NM_004168.4(SDHA):c.1569T>C (p.Ala523=)
|
rs150192376
|
0.00019
|
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=)
|
rs199885110
|
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_005045.4(RELN):c.10016T>C (p.Met3339Thr)
|
rs150638029
|
0.00019
|
NM_005045.4(RELN):c.4145+19A>G
|
rs200189547
|
0.00019
|
NM_005045.4(RELN):c.5893C>A (p.Pro1965Thr)
|
rs370624724
|
0.00019
|
NM_005334.3(HCFC1):c.4942+11G>A
|
rs782730900
|
0.00019
|
NM_006267.5(RANBP2):c.834G>A (p.Leu278=)
|
rs199652721
|
0.00019
|
NM_006950.3(SYN1):c.999G>T (p.Gly333=)
|
rs752926074
|
0.00019
|
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)
|
rs148325203
|
0.00019
|
NM_012193.4(FZD4):c.*4518C>G
|
rs542033644
|
0.00019
|
NM_012193.4(FZD4):c.-130C>T
|
rs544568108
|
0.00019
|
NM_012281.3(KCND2):c.801G>A (p.Val267=)
|
rs375854186
|
0.00019
|
NM_012338.4(TSPAN12):c.-43G>A
|
rs377745738
|
0.00019
|
NM_013275.6(ANKRD11):c.280G>C (p.Ala94Pro)
|
rs190143218
|
0.00019
|
NM_013275.6(ANKRD11):c.838G>T (p.Val280Leu)
|
rs199778705
|
0.00019
|
NM_014467.3(SRPX2):c.1218-6C>T
|
rs370981134
|
0.00019
|
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=)
|
rs140351132
|
0.00019
|
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)
|
rs143798689
|
0.00019
|
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys)
|
rs200340910
|
0.00019
|
NM_017882.3(CLN6):c.487-8T>C
|
rs202046680
|
0.00019
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
NM_018325.5(C9orf72):c.462C>T (p.Val154=)
|
rs188263738
|
0.00019
|
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr)
|
rs148487997
|
0.00019
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00019
|
NM_021072.4(HCN1):c.159C>G (p.His53Gln)
|
rs10066808
|
0.00019
|
NM_021098.3(CACNA1H):c.2216G>A (p.Arg739His)
|
rs372759314
|
0.00019
|
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)
|
rs202036871
|
0.00019
|
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=)
|
rs374488772
|
0.00019
|
NM_030930.4(UNC93B1):c.1449C>T (p.Phe483=)
|
rs371738908
|
0.00019
|
NM_032409.3(PINK1):c.858G>A (p.Pro286=)
|
rs148144773
|
0.00019
|
NM_032581.4(HYCC1):c.530+12G>A
|
rs139158847
|
0.00019
|
NM_032737.4(LMNB2):c.685-5C>T
|
rs369839679
|
0.00019
|
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro)
|
rs148704031
|
0.00019
|
NM_173354.5(SIK1):c.4G>A (p.Val2Ile)
|
rs376640139
|
0.00019
|
NM_182919.4(TICAM1):c.1763A>C (p.Gln588Pro)
|
rs199784356
|
0.00019
|
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu)
|
rs140090745
|
0.00019
|
NM_182961.4(SYNE1):c.24642+3A>G
|
rs117346210
|
0.00019
|
NM_182961.4(SYNE1):c.7030-16T>C
|
rs202040448
|
0.00019
|
NM_198578.4(LRRK2):c.3429C>T (p.Ser1143=)
|
rs142989436
|
0.00019
|
NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=)
|
rs367685080
|
0.00019
|
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=)
|
rs138233092
|
0.00018
|
NM_000044.6(AR):c.1644G>T (p.Leu548Phe)
|
rs139524801
|
0.00018
|
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)
|
rs201225704
|
0.00018
|
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000
|
0.00018
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000170.3(GLDC):c.1581-5C>T
|
rs184463452
|
0.00018
|
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)
|
rs202166915
|
0.00018
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)
|
rs143501870
|
0.00018
|
NM_000489.6(ATRX):c.4215-5G>A
|
rs111833322
|
0.00018
|
NM_000742.4(CHRNA2):c.45C>T (p.Ser15=)
|
rs149934219
|
0.00018
|
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=)
|
rs398124212
|
0.00018
|
NM_001110556.2(FLNA):c.2103C>T (p.His701=)
|
rs200227077
|
0.00018
|
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile)
|
rs201656372
|
0.00018
|
NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala)
|
rs782804253
|
0.00018
|
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)
|
rs200615848
|
0.00018
|
NM_001110556.2(FLNA):c.6847A>C (p.Ile2283Leu)
|
rs373037983
|
0.00018
|
NM_001110556.2(FLNA):c.958G>A (p.Val320Met)
|
rs781889196
|
0.00018
|
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385
|
0.00018
|
NM_001166114.2(PNPLA6):c.714+6T>G
|
rs368637145
|
0.00018
|
NM_001172509.2(SATB2):c.1386+19G>A
|
rs374300066
|
0.00018
|
NM_001182.5(ALDH7A1):c.193-20C>T
|
rs199762757
|
0.00018
|
NM_001244008.2(KIF1A):c.2582+4G>A
|
rs572013653
|
0.00018
|
NM_001244008.2(KIF1A):c.3202+8G>A
|
rs371620074
|
0.00018
|
NM_001244008.2(KIF1A):c.364-14C>G
|
rs376290711
|
0.00018
|
NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=)
|
rs370913170
|
0.00018
|
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=)
|
rs775395101
|
0.00018
|
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=)
|
rs148697943
|
0.00018
|
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val)
|
rs141815718
|
0.00018
|
NM_001363118.2(SLC52A2):c.359T>C (p.Val120Ala)
|
rs74445699
|
0.00018
|
NM_001371727.1(GABRB2):c.1213T>C (p.Leu405=)
|
rs142424271
|
0.00018
|
NM_001378969.1(KCND3):c.459G>A (p.Ser153=)
|
rs755206508
|
0.00018
|
NM_001429.4(EP300):c.1104C>T (p.His368=)
|
rs78045947
|
0.00018
|
NM_002617.4(PEX10):c.27G>A (p.Pro9=)
|
rs559431523
|
0.00018
|
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe)
|
rs147135956
|
0.00018
|
NM_003072.5(SMARCA4):c.4171-1858T>A
|
rs201309716
|
0.00018
|
NM_003719.5(PDE8B):c.*341C>T
|
rs559578439
|
0.00018
|
NM_004385.5(VCAN):c.2234A>C (p.Lys745Thr)
|
rs144502710
|
0.00018
|
NM_004975.4(KCNB1):c.2298G>T (p.Leu766=)
|
rs773587323
|
0.00018
|
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)
|
rs115035120
|
0.00018
|
NM_006765.4(TUSC3):c.568-15A>G
|
rs186717319
|
0.00018
|
NM_013254.4(TBK1):c.916C>A (p.Leu306Ile)
|
rs201970436
|
0.00018
|
NM_013275.6(ANKRD11):c.4272T>C (p.Ser1424=)
|
rs373066750
|
0.00018
|
NM_014946.4(SPAST):c.*1995A>G
|
rs540679757
|
0.00018
|
NM_016169.4(SUFU):c.1308C>T (p.Thr436=)
|
rs142029957
|
0.00018
|
NM_018941.4(CLN8):c.318C>T (p.His106=)
|
rs184988046
|
0.00018
|
NM_020708.5(SLC12A5):c.2118C>T (p.Ile706=)
|
rs3746521
|
0.00018
|
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala)
|
rs143780942
|
0.00018
|
NM_032581.4(HYCC1):c.1171G>C (p.Gly391Arg)
|
rs146591904
|
0.00018
|
NM_032737.4(LMNB2):c.1681C>T (p.Arg561Cys)
|
rs751633226
|
0.00018
|
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=)
|
rs199941415
|
0.00018
|
NM_173500.4(TTBK2):c.*490T>C
|
rs142589086
|
0.00018
|
NM_198904.4(GABRG2):c.107+12C>T
|
rs369466385
|
0.00018
|
NM_198994.3(TGM6):c.31T>G (p.Trp11Gly)
|
rs141178275
|
0.00018
|
NM_203446.3(SYNJ1):c.-23+15G>A
|
rs546859861
|
0.00018
|
NM_000081.4(LYST):c.2700A>G (p.Leu900=)
|
rs111463684
|
0.00017
|
NM_000815.5(GABRD):c.555C>T (p.Tyr185=)
|
rs201112862
|
0.00017
|
NM_000834.5(GRIN2B):c.1780+9G>A
|
rs201461091
|
0.00017
|
NM_000834.5(GRIN2B):c.2599-19C>A
|
rs3751258
|
0.00017
|
NM_001003800.2(BICD2):c.1044G>A (p.Leu348=)
|
rs77530912
|
0.00017
|
NM_001040142.2(SCN2A):c.1035-7A>C
|
rs558800241
|
0.00017
|
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=)
|
rs148424455
|
0.00017
|
NM_001110792.2(MECP2):c.621C>T (p.Gly207=)
|
rs61749712
|
0.00017
|
NM_001111.5(ADAR):c.2496+9G>A
|
rs199698434
|
0.00017
|
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=)
|
rs147706810
|
0.00017
|
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=)
|
rs184125970
|
0.00017
|
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=)
|
rs141264613
|
0.00017
|
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)
|
rs202006479
|
0.00017
|
NM_001330723.2(SNX27):c.1389+17G>A
|
rs185748265
|
0.00017
|
NM_001365536.1(SCN9A):c.3472+14T>C
|
rs201979079
|
0.00017
|
NM_001371727.1(GABRB2):c.77+18T>C
|
rs200524787
|
0.00017
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
NM_002609.4(PDGFRB):c.3276G>A (p.Ser1092=)
|
rs774197688
|
0.00017
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
NM_002739.5(PRKCG):c.286-12C>A
|
rs143352499
|
0.00017
|
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=)
|
rs372379166
|
0.00017
|
NM_003072.5(SMARCA4):c.2064G>A (p.Lys688=)
|
rs368941893
|
0.00017
|
NM_004385.5(VCAN):c.6322C>G (p.Gln2108Glu)
|
rs62364883
|
0.00017
|
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=)
|
rs766164918
|
0.00017
|
NM_004975.4(KCNB1):c.568-18A>G
|
rs190903326
|
0.00017
|
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
NM_005076.5(CNTN2):c.391+13G>A
|
rs200725113
|
0.00017
|
NM_005629.4(SLC6A8):c.1016+10G>A
|
rs371905179
|
0.00017
|
NM_006015.6(ARID1A):c.759C>G (p.Pro253=)
|
rs747694475
|
0.00017
|
NM_006267.5(RANBP2):c.2901A>G (p.Gln967=)
|
rs376394926
|
0.00017
|
NM_007126.5(VCP):c.2193C>T (p.Ile731=)
|
rs186657793
|
0.00017
|
NM_013275.6(ANKRD11):c.3423C>T (p.Ser1141=)
|
rs142005632
|
0.00017
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
NM_021098.3(CACNA1H):c.2542G>A (p.Gly848Ser)
|
rs374272094
|
0.00017
|
NM_021098.3(CACNA1H):c.2604-5C>T
|
rs191783113
|
0.00017
|
NM_021098.3(CACNA1H):c.3063+18G>A
|
rs759182769
|
0.00017
|
NM_021098.3(CACNA1H):c.3561G>A (p.Gly1187=)
|
rs543668675
|
0.00017
|
NM_025136.4(OPA3):c.*5923G>A
|
rs149788703
|
0.00017
|
NM_025136.4(OPA3):c.*6626G>A
|
rs139757997
|
0.00017
|
NM_032581.4(HYCC1):c.1201T>C (p.Cys401Arg)
|
rs563938932
|
0.00017
|
NM_139058.3(ARX):c.663C>T (p.Thr221=)
|
rs1006404746
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_182961.4(SYNE1):c.582-9A>G
|
rs200412221
|
0.00017
|
NM_182961.4(SYNE1):c.7713-4T>C
|
rs571742202
|
0.00017
|
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)
|
rs141110958
|
0.00016
|
NM_000096.4(CP):c.457G>A (p.Glu153Lys)
|
rs138646392
|
0.00016
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
NM_000153.4(GALC):c.1251+18A>G
|
rs369997150
|
0.00016
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00016
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
NM_000466.3(PEX1):c.3439-16A>G
|
rs563019269
|
0.00016
|
NM_000702.4(ATP1A2):c.1652-18C>A
|
rs372842016
|
0.00016
|
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln)
|
rs55855125
|
0.00016
|
NM_000748.3(CHRNB2):c.483C>T (p.His161=)
|
rs190967991
|
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_001003800.2(BICD2):c.1539C>T (p.Ala513=)
|
rs369575401
|
0.00016
|
NM_001029896.2(WDR45):c.38G>A (p.Arg13His)
|
rs201177026
|
0.00016
|
NM_001029896.2(WDR45):c.566A>G (p.Asn189Ser)
|
rs374078317
|
0.00016
|
NM_001032221.6(STXBP1):c.902+9C>A
|
rs200737004
|
0.00016
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His)
|
rs369668866
|
0.00016
|
NM_001110556.2(FLNA):c.5534G>A (p.Arg1845His)
|
rs782193125
|
0.00016
|
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)
|
rs368033271
|
0.00016
|
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)
|
rs757026025
|
0.00016
|
NM_001130438.3(SPTAN1):c.4146+19_4146+20insA
|
rs554731574
|
0.00016
|
NM_001130438.3(SPTAN1):c.4146+20G>C
|
rs560213432
|
0.00016
|
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=)
|
rs140418358
|
0.00016
|
NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=)
|
rs202058239
|
0.00016
|
NM_001134407.3(GRIN2A):c.*5996C>T
|
rs548588993
|
0.00016
|
NM_001134407.3(GRIN2A):c.*6596C>T
|
rs375205206
|
0.00016
|
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)
|
rs121918802
|
0.00016
|
NM_001166114.2(PNPLA6):c.1488C>T (p.Phe496=)
|
rs151146154
|
0.00016
|
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=)
|
rs749602848
|
0.00016
|
NM_001199107.2(TBC1D24):c.1207-16C>G
|
rs201618854
|
0.00016
|
NM_001244008.2(KIF1A):c.4249T>A (p.Ser1417Thr)
|
rs200855792
|
0.00016
|
NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=)
|
rs116068659
|
0.00016
|
NM_001271.4(CHD2):c.295-20G>A
|
rs191859431
|
0.00016
|
NM_001282531.3(ADNP):c.1212G>C (p.Ser404=)
|
rs139951165
|
0.00016
|
NM_001288705.3(CSF1R):c.1404G>A (p.Val468=)
|
rs201654254
|
0.00016
|
NM_001371596.2(MFSD8):c.864-16A>T
|
rs202196597
|
0.00016
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
NM_001378452.1(ITPR1):c.2007-7T>G
|
rs764512335
|
0.00016
|
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)
|
rs200534989
|
0.00016
|
NM_001379500.1(COL18A1):c.1683A>G (p.Ala561=)
|
rs75222922
|
0.00016
|
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg)
|
rs140300789
|
0.00016
|
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser)
|
rs140296303
|
0.00016
|
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys)
|
rs200684708
|
0.00016
|
NM_003072.5(SMARCA4):c.2860-14T>C
|
rs191509662
|
0.00016
|
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=)
|
rs201372858
|
0.00016
|
NM_003079.5(SMARCE1):c.894A>G (p.Lys298=)
|
rs759780963
|
0.00016
|
NM_003119.4(SPG7):c.862-16T>G
|
rs199954282
|
0.00016
|
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg)
|
rs146180431
|
0.00016
|
NM_003384.3(VRK1):c.710-13C>T
|
rs374386994
|
0.00016
|
NM_003977.4(AIP):c.753G>A (p.Leu251=)
|
rs147351993
|
0.00016
|
NM_004082.5(DCTN1):c.2019C>T (p.Ala673=)
|
rs372482596
|
0.00016
|
NM_004082.5(DCTN1):c.570G>A (p.Pro190=)
|
rs528908728
|
0.00016
|
NM_004287.5(GOSR2):c.94+7A>C
|
rs376231923
|
0.00016
|
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=)
|
rs371656213
|
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_004984.4(KIF5A):c.2040G>A (p.Val680=)
|
rs117670788
|
0.00016
|
NM_004984.4(KIF5A):c.292-5G>A
|
rs201917057
|
0.00016
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
NM_005045.4(RELN):c.4354G>A (p.Asp1452Asn)
|
rs114446781
|
0.00016
|
NM_005045.4(RELN):c.5088T>C (p.Leu1696=)
|
rs114551393
|
0.00016
|
NM_005045.4(RELN):c.5589G>T (p.Gln1863His)
|
rs774354428
|
0.00016
|
NM_005045.4(RELN):c.8844-20T>C
|
rs142002220
|
0.00016
|
NM_005097.4(LGI1):c.1062T>G (p.Ala354=)
|
rs768151875
|
0.00016
|
NM_005629.4(SLC6A8):c.645-6C>T
|
rs377181706
|
0.00016
|
NM_006267.5(RANBP2):c.6203A>G (p.Asn2068Ser)
|
rs150424672
|
0.00016
|
NM_006612.6(KIF1C):c.1197C>T (p.Gly399=)
|
rs142811879
|
0.00016
|
NM_006736.6(DNAJB2):c.65+15A>T
|
rs140751061
|
0.00016
|
NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=)
|
rs370597423
|
0.00016
|
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=)
|
rs141538541
|
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_013275.6(ANKRD11):c.3780G>A (p.Ser1260=)
|
rs139288405
|
0.00016
|
NM_013275.6(ANKRD11):c.5625C>T (p.Val1875=)
|
rs201082380
|
0.00016
|
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=)
|
rs143178463
|
0.00016
|
NM_014846.4(WASHC5):c.2199+4C>A
|
rs145721086
|
0.00016
|
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=)
|
rs370135619
|
0.00016
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00016
|
NM_015046.7(SETX):c.498+14T>C
|
rs753336459
|
0.00016
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg)
|
rs186429469
|
0.00016
|
NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys)
|
rs147895689
|
0.00016
|
NM_015915.5(ATL1):c.991-6T>G
|
rs192428744
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_020822.3(KCNT1):c.2118G>A (p.Arg706=)
|
rs766746716
|
0.00016
|
NM_021098.3(CACNA1H):c.3846-8C>T
|
rs552720385
|
0.00016
|
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp)
|
rs771719773
|
0.00016
|
NM_021625.5(TRPV4):c.1658+15C>T
|
rs200083069
|
0.00016
|
NM_022168.4(IFIH1):c.2454+9A>G
|
rs193149001
|
0.00016
|
NM_024411.5(PDYN):c.*836C>G
|
rs80315813
|
0.00016
|
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)
|
rs138036688
|
0.00016
|
NM_025219.3(DNAJC5):c.*3432G>A
|
rs1051821
|
0.00016
|
NM_025233.7(COASY):c.156G>C (p.Gln52His)
|
rs200009135
|
0.00016
|
NM_030930.4(UNC93B1):c.1183C>T (p.Leu395=)
|
rs776764518
|
0.00016
|
NM_033305.3(VPS13A):c.5439C>T (p.Ala1813=)
|
rs117654083
|
0.00016
|
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp)
|
rs375418085
|
0.00016
|
NM_145725.3(TRAF3):c.1296C>T (p.Ala432=)
|
rs145391228
|
0.00016
|
NM_145893.3(RBFOX1):c.57G>A (p.Pro19=)
|
rs147261087
|
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_152564.5(VPS13B):c.11787C>T (p.Asn3929=)
|
rs147710096
|
0.00016
|
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val)
|
rs201147123
|
0.00016
|
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=)
|
rs150376603
|
0.00016
|
NM_152743.4(BRAT1):c.1701C>T (p.Thr567=)
|
rs199766692
|
0.00016
|
NM_173354.5(SIK1):c.1278C>T (p.Ser426=)
|
rs539889673
|
0.00016
|
NM_173728.4(ARHGEF15):c.930A>G (p.Gln310=)
|
rs115530616
|
0.00016
|
NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=)
|
rs150722760
|
0.00016
|
NM_178138.6(LHX3):c.79+1935C>G
|
rs769912904
|
0.00016
|
NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly)
|
rs35328937
|
0.00016
|
NM_203446.3(SYNJ1):c.3697+10C>G
|
rs548819939
|
0.00016
|
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)
|
rs775332895
|
0.00016
|
NM_000033.4(ABCD1):c.901-5C>T
|
rs782603062
|
0.00015
|
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)
|
rs189353691
|
0.00015
|
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)
|
rs201284965
|
0.00015
|
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile)
|
rs151268950
|
0.00015
|
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys)
|
rs77655188
|
0.00015
|
NM_001015877.2(PHF6):c.241-13C>T
|
rs375674521
|
0.00015
|
NM_001040142.2(SCN2A):c.2149+19G>A
|
rs188453890
|
0.00015
|
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr)
|
rs781459134
|
0.00015
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
NM_001110792.2(MECP2):c.1176G>A (p.Val392=)
|
rs201711454
|
0.00015
|
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)
|
rs199540575
|
0.00015
|
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro)
|
rs782243032
|
0.00015
|
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=)
|
rs61751363
|
0.00015
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
0.00015
|
NM_001110792.2(MECP2):c.75A>G (p.Ser25=)
|
rs782561844
|
0.00015
|
NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=)
|
rs187648029
|
0.00015
|
NM_001127649.3(PEX26):c.882A>G (p.Ala294=)
|
rs751507771
|
0.00015
|
NM_001134407.3(GRIN2A):c.*7089T>C
|
rs148328605
|
0.00015
|
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=)
|
rs142571794
|
0.00015
|
NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=)
|
rs767028461
|
0.00015
|
NM_001205293.3(CACNA1E):c.6721G>A (p.Ala2241Thr)
|
rs202118773
|
0.00015
|
NM_001288705.3(CSF1R):c.1929C>T (p.His643=)
|
rs184499252
|
0.00015
|
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys)
|
rs147844088
|
0.00015
|
NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp)
|
rs144170600
|
0.00015
|
NM_001368809.2(AMPD2):c.912C>T (p.Asp304=)
|
rs141396033
|
0.00015
|
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)
|
rs148321416
|
0.00015
|
NM_001429.4(EP300):c.5565A>G (p.Pro1855=)
|
rs150532830
|
0.00015
|
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=)
|
rs183852315
|
0.00015
|
NM_003070.5(SMARCA2):c.677A>C (p.Gln226Pro)
|
rs147609454
|
0.00015
|
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=)
|
rs746415437
|
0.00015
|
NM_003719.5(PDE8B):c.400-7G>T
|
rs201875450
|
0.00015
|
NM_004183.4(BEST1):c.*45T>C
|
rs201586629
|
0.00015
|
NM_004380.3(CREBBP):c.1743T>G (p.Ala581=)
|
rs117115765
|
0.00015
|
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)
|
rs147083140
|
0.00015
|
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro)
|
rs577305576
|
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_004519.4(KCNQ3):c.*5004G>A
|
rs558732846
|
0.00015
|
NM_004960.4(FUS):c.132C>T (p.Ser44=)
|
rs72550883
|
0.00015
|
NM_004975.4(KCNB1):c.1356T>C (p.Asp452=)
|
rs775898692
|
0.00015
|
NM_005027.4(PIK3R2):c.1011-19A>G
|
rs373122934
|
0.00015
|
NM_005051.3(QARS1):c.1758+17_1758+18del
|
rs372006503
|
0.00015
|
NM_005120.3(MED12):c.554-16T>A
|
rs760845015
|
0.00015
|
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)
|
rs760663911
|
0.00015
|
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=)
|
rs370379881
|
0.00015
|
NM_005465.7(AKT3):c.1398G>A (p.Pro466=)
|
rs150573714
|
0.00015
|
NM_006267.5(RANBP2):c.3955G>C (p.Ala1319Pro)
|
rs374902910
|
0.00015
|
NM_006516.4(SLC2A1):c.*971G>A
|
rs185891628
|
0.00015
|
NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu)
|
rs570265865
|
0.00015
|
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala)
|
rs146394306
|
0.00015
|
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=)
|
rs200617745
|
0.00015
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00015
|
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)
|
rs200410163
|
0.00015
|
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)
|
rs201165929
|
0.00015
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080
|
0.00015
|
NM_022168.4(IFIH1):c.2239G>A (p.Val747Ile)
|
rs200389061
|
0.00015
|
NM_025136.4(OPA3):c.*3442A>G
|
rs138449967
|
0.00015
|
NM_032737.4(LMNB2):c.1482+11A>T
|
rs202063885
|
0.00015
|
NM_139058.3(ARX):c.1119+6C>T
|
rs201300786
|
0.00015
|
NM_139058.3(ARX):c.148T>C (p.Leu50=)
|
rs370342380
|
0.00015
|
NM_145725.3(TRAF3):c.1416G>A (p.Ser472=)
|
rs150561735
|
0.00015
|
NM_152309.3(PIK3AP1):c.360T>C (p.His120=)
|
rs549333065
|
0.00015
|
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)
|
rs185829704
|
0.00015
|
NM_198904.4(GABRG2):c.768C>T (p.Ser256=)
|
rs201672465
|
0.00015
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)
|
rs74315279
|
0.00014
|
NM_000044.6(AR):c.475G>A (p.Ala159Thr)
|
rs370215797
|
0.00014
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
NM_000052.7(ATP7A):c.3153C>T (p.His1051=)
|
rs142998552
|
0.00014
|
NM_000108.5(DLD):c.1395T>C (p.Asn465=)
|
rs76313180
|
0.00014
|
NM_000284.4(PDHA1):c.1008+7T>G
|
rs768994523
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000414.4(HSD17B4):c.1767+8T>C
|
rs190659146
|
0.00014
|
NM_000447.3(PSEN2):c.886+16G>A
|
rs202005802
|
0.00014
|
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala)
|
rs200436490
|
0.00014
|
NM_000744.7(CHRNA4):c.384-17G>A
|
rs200449795
|
0.00014
|
NM_001003800.2(BICD2):c.2544G>A (p.Glu848=)
|
rs533026038
|
0.00014
|
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=)
|
rs185590667
|
0.00014
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=)
|
rs200857989
|
0.00014
|
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn)
|
rs190415098
|
0.00014
|
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn)
|
rs782555930
|
0.00014
|
NM_001110792.2(MECP2):c.*2556T>A
|
rs267608356
|
0.00014
|
NM_001110792.2(MECP2):c.*359G>C
|
rs62621674
|
0.00014
|
NM_001110792.2(MECP2):c.*55C>G
|
rs267608344
|
0.00014
|
NM_001111.5(ADAR):c.2497-15C>T
|
rs113249520
|
0.00014
|
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=)
|
rs782748026
|
0.00014
|
NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=)
|
rs782769823
|
0.00014
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=)
|
rs373192672
|
0.00014
|
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser)
|
rs17846908
|
0.00014
|
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn)
|
rs199720383
|
0.00014
|
NM_001130438.3(SPTAN1):c.7161-8G>A
|
rs202180736
|
0.00014
|
NM_001130823.3(DNMT1):c.2020-10C>T
|
rs369373339
|
0.00014
|
NM_001166114.2(PNPLA6):c.1398C>T (p.Gly466=)
|
rs146463717
|
0.00014
|
NM_001172509.2(SATB2):c.405C>T (p.Pro135=)
|
rs150990155
|
0.00014
|
NM_001205293.3(CACNA1E):c.2767C>T (p.His923Tyr)
|
rs560469774
|
0.00014
|
NM_001244008.2(KIF1A):c.258T>C (p.Phe86=)
|
rs183284555
|
0.00014
|
NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu)
|
rs370378060
|
0.00014
|
NM_001271.4(CHD2):c.1503-7T>C
|
rs777008776
|
0.00014
|
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)
|
rs201204893
|
0.00014
|
NM_001282531.3(ADNP):c.2782G>C (p.Asp928His)
|
rs76458950
|
0.00014
|
NM_001288705.3(CSF1R):c.1701G>A (p.Thr567=)
|
rs567201624
|
0.00014
|
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys)
|
rs61753977
|
0.00014
|
NM_001330260.2(SCN8A):c.2394G>A (p.Ala798=)
|
rs201392695
|
0.00014
|
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His)
|
rs756785454
|
0.00014
|
NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp)
|
rs140795978
|
0.00014
|
NM_001371928.1(AHDC1):c.4797C>T (p.Thr1599=)
|
rs149147457
|
0.00014
|
NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys)
|
rs145746084
|
0.00014
|
NM_001429.4(EP300):c.2916T>C (p.Pro972=)
|
rs142769483
|
0.00014
|
NM_001429.4(EP300):c.3537C>A (p.Gly1179=)
|
rs148939960
|
0.00014
|
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)
|
rs200214562
|
0.00014
|
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro)
|
rs756772866
|
0.00014
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_001958.5(EEF1A2):c.526G>A (p.Ala176Thr)
|
rs200840944
|
0.00014
|
NM_002693.3(POLG):c.2157+11C>T
|
rs56411159
|
0.00014
|
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)
|
rs2307440
|
0.00014
|
NM_003042.4(SLC6A1):c.238+17G>A
|
rs762139954
|
0.00014
|
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=)
|
rs183695281
|
0.00014
|
NM_003072.5(SMARCA4):c.3952-20G>A
|
rs369464237
|
0.00014
|
NM_003560.4(PLA2G6):c.1186+17C>G
|
rs775654871
|
0.00014
|
NM_003705.5(SLC25A12):c.1171+17C>G
|
rs370591049
|
0.00014
|
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=)
|
rs774049893
|
0.00014
|
NM_004380.3(CREBBP):c.2225G>C (p.Arg742Pro)
|
rs748747684
|
0.00014
|
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)
|
rs374969185
|
0.00014
|
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=)
|
rs142846349
|
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_004738.5(VAPB):c.*1335C>T
|
rs187441988
|
0.00014
|
NM_004975.4(KCNB1):c.2059G>A (p.Val687Ile)
|
rs372263564
|
0.00014
|
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu)
|
rs201296719
|
0.00014
|
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg)
|
rs201030061
|
0.00014
|
NM_005334.3(HCFC1):c.6069-5C>T
|
rs782321258
|
0.00014
|
NM_005573.4(LMNB1):c.141C>T (p.Ile47=)
|
rs755177047
|
0.00014
|
NM_005629.4(SLC6A8):c.1016+12C>T
|
rs182984520
|
0.00014
|
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His)
|
rs149998596
|
0.00014
|
NM_006950.3(SYN1):c.980+20C>A
|
rs777705880
|
0.00014
|
NM_007327.4(GRIN1):c.1340C>A (p.Pro447His)
|
rs587780348
|
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_012281.3(KCND2):c.1278+19G>A
|
rs181115405
|
0.00014
|
NM_013275.6(ANKRD11):c.4391A>G (p.Lys1464Arg)
|
rs147285830
|
0.00014
|
NM_013275.6(ANKRD11):c.6375C>T (p.Ala2125=)
|
rs75629150
|
0.00014
|
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=)
|
rs144835963
|
0.00014
|
NM_014795.4(ZEB2):c.2457A>G (p.Ser819=)
|
rs144184948
|
0.00014
|
NM_014795.4(ZEB2):c.2973C>T (p.Ile991=)
|
rs572507342
|
0.00014
|
NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val)
|
rs199951665
|
0.00014
|
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser)
|
rs140899287
|
0.00014
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
NM_016373.4(WWOX):c.517-17A>G
|
rs79423401
|
0.00014
|
NM_018834.6(MATR3):c.2283C>T (p.Asn761=)
|
rs189752689
|
0.00014
|
NM_020365.5(EIF2B3):c.439G>C (p.Gly147Arg)
|
rs529374377
|
0.00014
|
NM_020699.4(GATAD2B):c.1530+14T>C
|
rs574345181
|
0.00014
|
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)
|
rs539139475
|
0.00014
|
NM_020988.3(GNAO1):c.304-10C>A
|
rs754891603
|
0.00014
|
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=)
|
rs368201539
|
0.00014
|
NM_021098.3(CACNA1H):c.2622G>T (p.Gly874=)
|
rs61747533
|
0.00014
|
NM_021098.3(CACNA1H):c.5665G>A (p.Gly1889Arg)
|
rs201018826
|
0.00014
|
NM_022089.4(ATP13A2):c.106-5C>T
|
rs117838709
|
0.00014
|
NM_025000.4(DCAF17):c.1266+14C>T
|
rs185407539
|
0.00014
|
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=)
|
rs145579121
|
0.00014
|
NM_025243.4(SLC19A3):c.99A>G (p.Pro33=)
|
rs17853011
|
0.00014
|
NM_032737.4(LMNB2):c.1483-20G>A
|
rs371984370
|
0.00014
|
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu)
|
rs202226215
|
0.00014
|
NM_152743.4(BRAT1):c.762C>T (p.Pro254=)
|
rs143192367
|
0.00014
|
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)
|
rs200220646
|
0.00014
|
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp)
|
rs781932570
|
0.00013
|
NM_000044.6(AR):c.814C>T (p.Leu272Phe)
|
rs148972137
|
0.00013
|
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=)
|
rs141535376
|
0.00013
|
NM_000081.4(LYST):c.1494A>G (p.Arg498=)
|
rs201412615
|
0.00013
|
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser)
|
rs201255245
|
0.00013
|
NM_000284.4(PDHA1):c.292-5C>T
|
rs191666624
|
0.00013
|
NM_000330.4(RS1):c.326+1082T>C
|
rs375809338
|
0.00013
|
NM_000484.4(APP):c.355+9G>A
|
rs371324252
|
0.00013
|
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)
|
rs200343648
|
0.00013
|
NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys)
|
rs150112824
|
0.00013
|
NM_000744.7(CHRNA4):c.1373C>T (p.Pro458Leu)
|
rs121912277
|
0.00013
|
NM_001003800.2(BICD2):c.1453G>T (p.Val485Phe)
|
rs199519253
|
0.00013
|
NM_001037.5(SCN1B):c.-27G>C
|
rs758958222
|
0.00013
|
NM_001040142.2(SCN2A):c.3520+11C>T
|
rs187452739
|
0.00013
|
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)
|
rs185389157
|
0.00013
|
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)
|
rs199911951
|
0.00013
|
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=)
|
rs373625856
|
0.00013
|
NM_001110792.2(MECP2):c.771C>G (p.Val257=)
|
rs782027467
|
0.00013
|
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)
|
rs63582063
|
0.00013
|
NM_001110792.2(MECP2):c.897C>T (p.Ala299=)
|
rs139378224
|
0.00013
|
NM_001111.5(ADAR):c.1934+8C>T
|
rs376025865
|
0.00013
|
NM_001112741.2(KCNC1):c.1505-9dup
|
rs760343215
|
0.00013
|
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)
|
rs190551509
|
0.00013
|
NM_001127649.3(PEX26):c.501G>A (p.Val167=)
|
rs201666490
|
0.00013
|
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)
|
rs146601335
|
0.00013
|
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=)
|
rs148085725
|
0.00013
|
NM_001191061.2(SLC25A22):c.*17A>C
|
rs554507285
|
0.00013
|
NM_001271.4(CHD2):c.826+4T>C
|
rs369930157
|
0.00013
|
NM_001323289.2(CDKL5):c.464-9A>G
|
rs374030184
|
0.00013
|
NM_001370259.2(MEN1):c.913-42G>C
|
rs529037188
|
0.00013
|
NM_001374828.1(ARID1B):c.1881G>A (p.Pro627=)
|
rs142939952
|
0.00013
|
NM_001377265.1(MAPT):c.1732+2367C>G
|
rs267604921
|
0.00013
|
NM_001429.4(EP300):c.1782G>C (p.Thr594=)
|
rs17002307
|
0.00013
|
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn)
|
rs558814304
|
0.00013
|
NM_001927.4(DES):c.*198G>A
|
rs560055588
|
0.00013
|
NM_002578.5(PAK3):c.918G>A (p.Lys306=)
|
rs151056810
|
0.00013
|
NM_002609.4(PDGFRB):c.1368-15C>T
|
rs777941214
|
0.00013
|
NM_002641.4(PIGA):c.716-10A>G
|
rs375371562
|
0.00013
|
NM_003334.4(UBA1):c.1149C>T (p.Ile383=)
|
rs782140742
|
0.00013
|
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu)
|
rs149016283
|
0.00013
|
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)
|
rs747626591
|
0.00013
|
NM_004082.5(DCTN1):c.3345+13C>T
|
rs376707439
|
0.00013
|
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)
|
rs778915687
|
0.00013
|
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=)
|
rs148539895
|
0.00013
|
NM_004385.5(VCAN):c.7581C>T (p.Phe2527=)
|
rs149880697
|
0.00013
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
NM_005045.4(RELN):c.1708C>G (p.His570Asp)
|
rs374546580
|
0.00013
|
NM_005045.4(RELN):c.5398C>G (p.Leu1800Val)
|
rs150148125
|
0.00013
|
NM_005120.3(MED12):c.1101+18C>T
|
rs200510424
|
0.00013
|
NM_005120.3(MED12):c.5805C>T (p.Ser1935=)
|
rs201608537
|
0.00013
|
NM_005334.3(HCFC1):c.1119A>G (p.Val373=)
|
rs782547175
|
0.00013
|
NM_005334.3(HCFC1):c.6005-18C>G
|
rs781820710
|
0.00013
|
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=)
|
rs122453118
|
0.00013
|
NM_006516.4(SLC2A1):c.517-18G>A
|
rs372553463
|
0.00013
|
NM_013275.6(ANKRD11):c.5038C>T (p.Leu1680=)
|
rs142473716
|
0.00013
|
NM_014324.6(AMACR):c.438G>A (p.Pro146=)
|
rs140523570
|
0.00013
|
NM_014946.4(SPAST):c.*2433A>G
|
rs569779105
|
0.00013
|
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
|
rs11243731
|
0.00013
|
NM_017755.6(NSUN2):c.*563C>T
|
rs374769713
|
0.00013
|
NM_020631.6(PLEKHG5):c.43+20G>T
|
rs200779049
|
0.00013
|
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=)
|
rs556027390
|
0.00013
|
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=)
|
rs372529098
|
0.00013
|
NM_021830.5(TWNK):c.-290G>C
|
rs62626270
|
0.00013
|
NM_022168.4(IFIH1):c.1812G>A (p.Leu604=)
|
rs118172671
|
0.00013
|
NM_024665.7(TBL1XR1):c.606C>T (p.Ser202=)
|
rs561869177
|
0.00013
|
NM_024989.4(PGAP1):c.1848T>C (p.Ser616=)
|
rs374678391
|
0.00013
|
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His)
|
rs181034787
|
0.00013
|
NM_139318.5(KCNH5):c.1579A>T (p.Ile527Phe)
|
rs149561461
|
0.00013
|
NM_144599.5(NIPA1):c.*3872T>G
|
rs528309949
|
0.00013
|
NM_145725.3(TRAF3):c.1314G>C (p.Leu438=)
|
rs3742448
|
0.00013
|
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)
|
rs146606627
|
0.00013
|
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)
|
rs576577339
|
0.00013
|
NM_172107.4(KCNQ2):c.297-10C>G
|
rs763193303
|
0.00013
|
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)
|
rs764753481
|
0.00013
|
NM_173500.4(TTBK2):c.2418A>G (p.Pro806=)
|
rs185441376
|
0.00013
|
NM_198578.4(LRRK2):c.*470G>T
|
rs200678400
|
0.00013
|
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp)
|
rs368061976
|
0.00012
|
NM_000044.6(AR):c.2607+20T>C
|
rs561297300
|
0.00012
|
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met)
|
rs149523862
|
0.00012
|
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)
|
rs374162669
|
0.00012
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)
|
rs185917115
|
0.00012
|
NM_000061.3(BTK):c.1566+18T>C
|
rs367698178
|
0.00012
|
NM_000081.4(LYST):c.2517T>C (p.Ile839=)
|
rs78172154
|
0.00012
|
NM_000170.3(GLDC):c.635+16A>G
|
rs182471927
|
0.00012
|
NM_000284.4(PDHA1):c.*707G>A
|
rs150945967
|
0.00012
|
NM_000284.4(PDHA1):c.363C>T (p.His121=)
|
rs183170654
|
0.00012
|
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)
|
rs138727886
|
0.00012
|
NM_000311.5(PRNP):c.306G>A (p.Pro102=)
|
rs370426100
|
0.00012
|
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys)
|
rs770842444
|
0.00012
|
NM_000475.5(NR0B1):c.96G>C (p.Thr32=)
|
rs752999448
|
0.00012
|
NM_000484.4(APP):c.1833A>G (p.Gly611=)
|
rs200922667
|
0.00012
|
NM_000489.6(ATRX):c.4317+13T>C
|
rs201710363
|
0.00012
|
NM_000489.6(ATRX):c.662+11T>C
|
rs375372323
|
0.00012
|
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)
|
rs781853125
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_001032221.6(STXBP1):c.1250-20C>T
|
rs368217811
|
0.00012
|
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=)
|
rs199925238
|
0.00012
|
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val)
|
rs138712375
|
0.00012
|
NM_001099922.3(ALG13):c.2685C>T (p.His895=)
|
rs374572450
|
0.00012
|
NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile)
|
rs373286506
|
0.00012
|
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=)
|
rs367674709
|
0.00012
|
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)
|
rs148744894
|
0.00012
|
NM_001110792.2(MECP2):c.171C>T (p.Pro57=)
|
rs139477857
|
0.00012
|
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser)
|
rs61749731
|
0.00012
|
NM_001111.5(ADAR):c.1935-20C>T
|
rs17843867
|
0.00012
|
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=)
|
rs782760727
|
0.00012
|
NM_001127178.3(PIGG):c.1594G>C (p.Gly532Arg)
|
rs781714196
|
0.00012
|
NM_001127178.3(PIGG):c.2769C>T (p.Tyr923=)
|
rs148579497
|
0.00012
|
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=)
|
rs147233101
|
0.00012
|
NM_001130438.3(SPTAN1):c.413T>C (p.Met138Thr)
|
rs767527240
|
0.00012
|
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=)
|
rs138634476
|
0.00012
|
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser)
|
rs199866550
|
0.00012
|
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=)
|
rs140093291
|
0.00012
|
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=)
|
rs139309224
|
0.00012
|
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr)
|
rs142825652
|
0.00012
|
NM_001330260.2(SCN8A):c.3373-9C>T
|
rs770747359
|
0.00012
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
NM_001363118.2(SLC52A2):c.309C>T (p.Ala103=)
|
rs146256291
|
0.00012
|
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys)
|
rs200532657
|
0.00012
|
NM_001429.4(EP300):c.4026-7T>C
|
rs187388966
|
0.00012
|
NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)
|
rs864622513
|
0.00012
|
NM_001844.5(COL2A1):c.147G>A (p.Pro49=)
|
rs372734539
|
0.00012
|
NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val)
|
rs373712845
|
0.00012
|
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=)
|
rs140440365
|
0.00012
|
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His)
|
rs200192119
|
0.00012
|
NM_001958.5(EEF1A2):c.672C>T (p.Ser224=)
|
rs200051020
|
0.00012
|
NM_003042.4(SLC6A1):c.616A>G (p.Lys206Glu)
|
rs375623402
|
0.00012
|
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=)
|
rs199634608
|
0.00012
|
NM_003079.5(SMARCE1):c.369+10G>C
|
rs199790447
|
0.00012
|
NM_003334.4(UBA1):c.2979C>T (p.Gly993=)
|
rs145283250
|
0.00012
|
NM_004035.7(ACOX1):c.1584+11G>A
|
rs185329691
|
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_004562.3(PRKN):c.1096C>T (p.Arg366Trp)
|
rs56092260
|
0.00012
|
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln)
|
rs761082551
|
0.00012
|
NM_005045.4(RELN):c.6200C>T (p.Ser2067Phe)
|
rs368566543
|
0.00012
|
NM_005045.4(RELN):c.7268G>A (p.Arg2423His)
|
rs140660860
|
0.00012
|
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)
|
rs531754497
|
0.00012
|
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met)
|
rs199611189
|
0.00012
|
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=)
|
rs370113081
|
0.00012
|
NM_006030.4(CACNA2D2):c.1260+11A>G
|
rs771701603
|
0.00012
|
NM_006267.5(RANBP2):c.1108A>G (p.Lys370Glu)
|
rs143137111
|
0.00012
|
NM_013254.4(TBK1):c.108T>C (p.Ala36=)
|
rs202056661
|
0.00012
|
NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu)
|
rs374369335
|
0.00012
|
NM_014043.4(CHMP2B):c.*836T>C
|
rs189927047
|
0.00012
|
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)
|
rs147693839
|
0.00012
|
NM_015046.7(SETX):c.3505A>G (p.Met1169Val)
|
rs573849874
|
0.00012
|
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)
|
rs781275166
|
0.00012
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
NM_015915.5(ATL1):c.90A>G (p.Lys30=)
|
rs200452381
|
0.00012
|
NM_018026.4(PACS1):c.698G>A (p.Gly233Asp)
|
rs201067492
|
0.00012
|
NM_018206.6(VPS35):c.1268C>T (p.Pro423Leu)
|
rs373075116
|
0.00012
|
NM_018325.5(C9orf72):c.682T>C (p.Leu228=)
|
rs147034723
|
0.00012
|
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=)
|
rs372491855
|
0.00012
|
NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=)
|
rs368956894
|
0.00012
|
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys)
|
rs376607278
|
0.00012
|
NM_024989.4(PGAP1):c.2287-11A>G
|
rs369759909
|
0.00012
|
NM_139318.5(KCNH5):c.224A>G (p.Lys75Arg)
|
rs557868420
|
0.00012
|
NM_152309.3(PIK3AP1):c.1376-8C>T
|
rs754562989
|
0.00012
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
0.00012
|
NM_173354.5(SIK1):c.243G>C (p.Leu81=)
|
rs549478743
|
0.00012
|
NM_182961.4(SYNE1):c.19692+20G>C
|
rs140078199
|
0.00012
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00012
|
NM_205836.3(FBXO38):c.510T>C (p.Asn170=)
|
rs760368532
|
0.00012
|
NM_000021.4(PSEN1):c.654A>G (p.Pro218=)
|
rs115760359
|
0.00011
|
NM_000033.4(ABCD1):c.*473C>T
|
rs782343473
|
0.00011
|
NM_000044.6(AR):c.1301C>T (p.Ser434Phe)
|
rs748457992
|
0.00011
|
NM_000061.3(BTK):c.1104A>G (p.Gly368=)
|
rs781940603
|
0.00011
|
NM_000096.4(CP):c.3006C>T (p.Ser1002=)
|
rs199877380
|
0.00011
|
NM_000284.4(PDHA1):c.*1450C>T
|
rs747229060
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu)
|
rs574125890
|
0.00011
|
NM_000454.5(SOD1):c.*317T>C
|
rs191345676
|
0.00011
|
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala)
|
rs761749382
|
0.00011
|
NM_000484.4(APP):c.225+14G>A
|
rs199644062
|
0.00011
|
NM_000487.6(ARSA):c.972C>T (p.Ile324=)
|
rs200567315
|
0.00011
|
NM_000489.6(ATRX):c.1032C>T (p.Ser344=)
|
rs143491422
|
0.00011
|
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser)
|
rs368498507
|
0.00011
|
NM_000744.7(CHRNA4):c.948C>T (p.Phe316=)
|
rs121912259
|
0.00011
|
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)
|
rs71651693
|
0.00011
|
NM_000834.5(GRIN2B):c.1328+17A>G
|
rs201560542
|
0.00011
|
NM_000834.5(GRIN2B):c.190G>A (p.Val64Met)
|
rs150070901
|
0.00011
|
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596
|
0.00011
|
NM_001003800.2(BICD2):c.1680C>T (p.Gly560=)
|
rs371748461
|
0.00011
|
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=)
|
rs149688357
|
0.00011
|
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=)
|
rs187728892
|
0.00011
|
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met)
|
rs782549299
|
0.00011
|
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln)
|
rs782320818
|
0.00011
|
NM_001110556.2(FLNA):c.1828+3A>G
|
rs368041880
|
0.00011
|
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)
|
rs61753971
|
0.00011
|
NM_001111125.3(IQSEC2):c.2931G>A (p.Gln977=)
|
rs140023181
|
0.00011
|
NM_001111125.3(IQSEC2):c.3116-19G>A
|
rs782264682
|
0.00011
|
NM_001127222.2(CACNA1A):c.3883-15T>C
|
rs767715097
|
0.00011
|
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=)
|
rs200625174
|
0.00011
|
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val)
|
rs927310190
|
0.00011
|
NM_001130438.3(SPTAN1):c.5044-4C>T
|
rs749484552
|
0.00011
|
NM_001130438.3(SPTAN1):c.6576+12G>A
|
rs144725581
|
0.00011
|
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys)
|
rs201774098
|
0.00011
|
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys)
|
rs200024502
|
0.00011
|
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro)
|
rs143287044
|
0.00011
|
NM_001134407.3(GRIN2A):c.*4703C>T
|
rs141406777
|
0.00011
|
NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=)
|
rs761103593
|
0.00011
|
NM_001172509.2(SATB2):c.2034G>C (p.Glu678Asp)
|
rs147191297
|
0.00011
|
NM_001244008.2(KIF1A):c.3671G>A (p.Arg1224Gln)
|
rs375993206
|
0.00011
|
NM_001271.4(CHD2):c.4533C>T (p.Asp1511=)
|
rs141821906
|
0.00011
|
NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr)
|
rs745861253
|
0.00011
|
NM_001323289.2(CDKL5):c.283-13A>G
|
rs587783404
|
0.00011
|
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=)
|
rs554948147
|
0.00011
|
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser)
|
rs370090236
|
0.00011
|
NM_001353921.2(ARHGEF9):c.946-16C>T
|
rs781867369
|
0.00011
|
NM_001363118.2(SLC52A2):c.1320A>G (p.Ala440=)
|
rs189845609
|
0.00011
|
NM_001365536.1(SCN9A):c.2875-6A>G
|
rs760470229
|
0.00011
|
NM_001367561.1(DOCK7):c.3300+15G>A
|
rs145276116
|
0.00011
|
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg)
|
rs763275881
|
0.00011
|
NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu)
|
rs774513612
|
0.00011
|
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=)
|
rs375801584
|
0.00011
|
NM_001378452.1(ITPR1):c.7737C>T (p.Leu2579=)
|
rs148734757
|
0.00011
|
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)
|
rs201480900
|
0.00011
|
NM_001429.4(EP300):c.3502-13G>A
|
rs547213630
|
0.00011
|
NM_001429.4(EP300):c.376A>G (p.Met126Val)
|
rs200635644
|
0.00011
|
NM_001429.4(EP300):c.454G>A (p.Gly152Ser)
|
rs142758675
|
0.00011
|
NM_001429.4(EP300):c.5461C>A (p.Arg1821=)
|
rs780579609
|
0.00011
|
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)
|
rs781133776
|
0.00011
|
NM_001846.4(COL4A2):c.4456G>A (p.Val1486Ile)
|
rs201426733
|
0.00011
|
NM_001846.4(COL4A2):c.684+8G>A
|
rs200682990
|
0.00011
|
NM_002361.4(MAG):c.1140G>A (p.Pro380=)
|
rs200135379
|
0.00011
|
NM_002397.5(MEF2C):c.642C>T (p.Asn214=)
|
rs79455305
|
0.00011
|
NM_002541.4(OGDH):c.1032C>T (p.Ser344=)
|
rs149447664
|
0.00011
|
NM_002541.4(OGDH):c.222+9C>T
|
rs201280081
|
0.00011
|
NM_002541.4(OGDH):c.3042C>T (p.Phe1014=)
|
rs144300328
|
0.00011
|
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=)
|
rs2288845
|
0.00011
|
NM_003334.4(UBA1):c.812-4G>A
|
rs372842152
|
0.00011
|
NM_003719.5(PDE8B):c.*57C>T
|
rs566925510
|
0.00011
|
NM_003719.5(PDE8B):c.*648T>G
|
rs184498073
|
0.00011
|
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=)
|
rs201161108
|
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_005045.4(RELN):c.10322G>A (p.Arg3441Gln)
|
rs116463039
|
0.00011
|
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=)
|
rs372900932
|
0.00011
|
NM_005359.6(SMAD4):c.*2353C>T
|
rs550660083
|
0.00011
|
NM_005629.4(SLC6A8):c.826C>T (p.Leu276=)
|
rs138634140
|
0.00011
|
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=)
|
rs782373793
|
0.00011
|
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
|
rs868950793
|
0.00011
|
NM_006015.6(ARID1A):c.2988+36G>A
|
rs372175005
|
0.00011
|
NM_006087.4(TUBB4A):c.624C>T (p.Tyr208=)
|
rs199666595
|
0.00011
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
NM_006612.6(KIF1C):c.941-17A>T
|
rs202231042
|
0.00011
|
NM_006859.4(LIAS):c.393+10G>A
|
rs372094616
|
0.00011
|
NM_006859.4(LIAS):c.726G>A (p.Pro242=)
|
rs371053949
|
0.00011
|
NM_007327.4(GRIN1):c.1632+8G>C
|
rs762558895
|
0.00011
|
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)
|
rs187436884
|
0.00011
|
NM_012179.4(FBXO7):c.1272C>T (p.Phe424=)
|
rs577160947
|
0.00011
|
NM_013275.6(ANKRD11):c.2184C>G (p.Ile728Met)
|
rs150810048
|
0.00011
|
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=)
|
rs145201706
|
0.00011
|
NM_016169.4(SUFU):c.1245C>T (p.Gly415=)
|
rs144158469
|
0.00011
|
NM_018834.6(MATR3):c.*2174C>T
|
rs775200100
|
0.00011
|
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=)
|
rs143678590
|
0.00011
|
NM_021072.4(HCN1):c.1041C>T (p.Tyr347=)
|
rs140235085
|
0.00011
|
NM_021072.4(HCN1):c.1437G>A (p.Ala479=)
|
rs372374391
|
0.00011
|
NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=)
|
rs41292281
|
0.00011
|
NM_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg)
|
rs369898856
|
0.00011
|
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys)
|
rs56930579
|
0.00011
|
NM_021098.3(CACNA1H):c.300-8G>A
|
rs3751662
|
0.00011
|
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His)
|
rs374847612
|
0.00011
|
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=)
|
rs368279466
|
0.00011
|
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=)
|
rs536306337
|
0.00011
|
NM_022168.4(IFIH1):c.1524+19T>C
|
rs374493449
|
0.00011
|
NM_032409.3(PINK1):c.1362C>T (p.Tyr454=)
|
rs56383368
|
0.00011
|
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr)
|
rs143717863
|
0.00011
|
NM_032776.3(JMJD1C):c.4410T>C (p.Ser1470=)
|
rs118024996
|
0.00011
|
NM_032776.3(JMJD1C):c.6624G>A (p.Ala2208=)
|
rs376902848
|
0.00011
|
NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val)
|
rs185663133
|
0.00011
|
NM_033629.6(TREX1):c.120C>T (p.His40=)
|
rs758622317
|
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.2419-17C>T
|
rs541464159
|
0.00011
|
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)
|
rs142806181
|
0.00011
|
NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=)
|
rs140203774
|
0.00011
|
NM_172107.4(KCNQ2):c.1281A>G (p.Gly427=)
|
rs781056597
|
0.00011
|
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=)
|
rs3810472
|
0.00011
|
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=)
|
rs370174915
|
0.00011
|
NM_173354.5(SIK1):c.1488G>A (p.Thr496=)
|
rs753580147
|
0.00011
|
NM_173354.5(SIK1):c.30C>T (p.Asp10=)
|
rs751254558
|
0.00011
|
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=)
|
rs142327194
|
0.00011
|
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile)
|
rs199670962
|
0.00011
|
NM_198578.4(LRRK2):c.7483G>A (p.Val2495Ile)
|
rs150062967
|
0.00011
|
NM_000033.4(ABCD1):c.108G>A (p.Val36=)
|
rs368718078
|
0.00010
|
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=)
|
rs782742220
|
0.00010
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
NM_000061.3(BTK):c.895-10G>A
|
rs370812397
|
0.00010
|
NM_000484.4(APP):c.*913C>G
|
rs202081585
|
0.00010
|
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His)
|
rs782386546
|
0.00010
|
NM_000489.6(ATRX):c.4214+6A>G
|
rs782562759
|
0.00010
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
NM_000489.6(ATRX):c.831C>T (p.Val277=)
|
rs142561199
|
0.00010
|
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_000834.5(GRIN2B):c.1781-3C>T
|
rs201520798
|
0.00010
|
NM_000834.5(GRIN2B):c.771C>T (p.Ile257=)
|
rs142203984
|
0.00010
|
NM_001015877.2(PHF6):c.414C>T (p.Ser138=)
|
rs200423380
|
0.00010
|
NM_001029896.2(WDR45):c.100G>A (p.Val34Met)
|
rs151051355
|
0.00010
|
NM_001029896.2(WDR45):c.337G>A (p.Asp113Asn)
|
rs376936511
|
0.00010
|
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)
|
rs149534277
|
0.00010
|
NM_001040142.2(SCN2A):c.2562+5A>G
|
rs374738441
|
0.00010
|
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=)
|
rs147576541
|
0.00010
|
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=)
|
rs373347369
|
0.00010
|
NM_001077350.3(NPRL3):c.318+8T>G
|
rs370788298
|
0.00010
|
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu)
|
rs751478782
|
0.00010
|
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)
|
rs200363918
|
0.00010
|
NM_001110556.2(FLNA):c.6227-7C>T
|
rs370491691
|
0.00010
|
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)
|
rs781881872
|
0.00010
|
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=)
|
rs782129907
|
0.00010
|
NM_001110792.2(MECP2):c.*3658C>T
|
rs267608359
|
0.00010
|
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
NM_001110792.2(MECP2):c.204C>T (p.Pro68=)
|
rs61754435
|
0.00010
|
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala)
|
rs61748422
|
0.00010
|
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu)
|
rs782439813
|
0.00010
|
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)
|
rs202002033
|
0.00010
|
NM_001130823.3(DNMT1):c.4878G>A (p.Glu1626=)
|
rs776749454
|
0.00010
|
NM_001134407.3(GRIN2A):c.1006C>T (p.Pro336Ser)
|
rs148511104
|
0.00010
|
NM_001134407.3(GRIN2A):c.3535T>G (p.Ser1179Ala)
|
rs142670870
|
0.00010
|
NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=)
|
rs375030056
|
0.00010
|
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=)
|
rs142975776
|
0.00010
|
NM_001182.5(ALDH7A1):c.774-19C>T
|
rs373058643
|
0.00010
|
NM_001205293.3(CACNA1E):c.3723C>T (p.Asn1241=)
|
rs762242384
|
0.00010
|
NM_001257180.2(SLC20A2):c.935-12A>C
|
rs144236532
|
0.00010
|
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser)
|
rs143431217
|
0.00010
|
NM_001288705.3(CSF1R):c.2761C>T (p.Arg921Trp)
|
rs202216061
|
0.00010
|
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=)
|
rs200333632
|
0.00010
|
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)
|
rs55803460
|
0.00010
|
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=)
|
rs193058770
|
0.00010
|
NM_001347721.2(DYRK1A):c.489+9A>G
|
rs187936450
|
0.00010
|
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)
|
rs200215904
|
0.00010
|
NM_001365536.1(SCN9A):c.2853C>G (p.Val951=)
|
rs764006250
|
0.00010
|
NM_001368809.2(AMPD2):c.1080+9T>C
|
rs202160763
|
0.00010
|
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln)
|
rs199537553
|
0.00010
|
NM_001429.4(EP300):c.2925A>G (p.Glu975=)
|
rs75752076
|
0.00010
|
NM_001845.6(COL4A1):c.280-12C>T
|
rs200121908
|
0.00010
|
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=)
|
rs201485072
|
0.00010
|
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)
|
rs753002290
|
0.00010
|
NM_002397.5(MEF2C):c.180C>T (p.Thr60=)
|
rs773278207
|
0.00010
|
NM_002641.4(PIGA):c.1214C>T (p.Ala405Val)
|
rs201361742
|
0.00010
|
NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys)
|
rs761613346
|
0.00010
|
NM_002778.4(PSAP):c.1193-18C>T
|
rs200988983
|
0.00010
|
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=)
|
rs372410282
|
0.00010
|
NM_003072.5(SMARCA4):c.3168+9G>A
|
rs369201773
|
0.00010
|
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=)
|
rs377720149
|
0.00010
|
NM_003334.4(UBA1):c.1482C>T (p.Cys494=)
|
rs782484295
|
0.00010
|
NM_003334.4(UBA1):c.2003+12G>A
|
rs373695438
|
0.00010
|
NM_003334.4(UBA1):c.388G>C (p.Val130Leu)
|
rs782523969
|
0.00010
|
NM_003719.5(PDE8B):c.1299G>A (p.Leu433=)
|
rs376289812
|
0.00010
|
NM_003719.5(PDE8B):c.2235G>A (p.Lys745=)
|
rs774632534
|
0.00010
|
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg)
|
rs143800457
|
0.00010
|
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile)
|
rs368273709
|
0.00010
|
NM_004204.5(PIGQ):c.849G>T (p.Leu283=)
|
rs373615860
|
0.00010
|
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)
|
rs190121951
|
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_004519.4(KCNQ3):c.*7214G>A
|
rs150753935
|
0.00010
|
NM_004960.4(FUS):c.1169-11A>G
|
rs181859716
|
0.00010
|
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu)
|
rs201212125
|
0.00010
|
NM_005045.4(RELN):c.1655T>C (p.Val552Ala)
|
rs144116037
|
0.00010
|
NM_005045.4(RELN):c.6853C>T (p.Arg2285Cys)
|
rs144565023
|
0.00010
|
NM_005045.4(RELN):c.7350-15T>C
|
rs532399420
|
0.00010
|
NM_005120.3(MED12):c.321A>C (p.Ala107=)
|
rs748627661
|
0.00010
|
NM_005120.3(MED12):c.3357C>T (p.Val1119=)
|
rs773679943
|
0.00010
|
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)
|
rs3810670
|
0.00010
|
NM_005120.3(MED12):c.6201A>G (p.Gln2067=)
|
rs375793297
|
0.00010
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
0.00010
|
NM_005359.6(SMAD4):c.*12G>A
|
rs148687037
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005629.4(SLC6A8):c.1496-4G>A
|
rs782589547
|
0.00010
|
NM_005629.4(SLC6A8):c.1662G>A (p.Pro554=)
|
rs149677083
|
0.00010
|
NM_005629.4(SLC6A8):c.912+9G>A
|
rs782694291
|
0.00010
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu)
|
rs201256460
|
0.00010
|
NM_013275.6(ANKRD11):c.1725C>T (p.Ser575=)
|
rs151124308
|
0.00010
|
NM_013275.6(ANKRD11):c.69G>A (p.Glu23=)
|
rs533051571
|
0.00010
|
NM_013444.4(UBQLN2):c.-163G>T
|
rs192883799
|
0.00010
|
NM_013444.4(UBQLN2):c.51T>A (p.Pro17=)
|
rs371163085
|
0.00010
|
NM_014239.4(EIF2B2):c.982A>G (p.Ile328Val)
|
rs145117455
|
0.00010
|
NM_014334.4(FRRS1L):c.323+7G>A
|
rs757162007
|
0.00010
|
NM_014795.4(ZEB2):c.1587G>A (p.Thr529=)
|
rs148709333
|
0.00010
|
NM_014844.5(TECPR2):c.-3G>A
|
rs190179991
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)
|
rs140892948
|
0.00010
|
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)
|
rs368323660
|
0.00010
|
NM_015192.4(PLCB1):c.3129G>T (p.Thr1043=)
|
rs141102170
|
0.00010
|
NM_015338.6(ASXL1):c.3540T>C (p.Asp1180=)
|
rs148597247
|
0.00010
|
NM_015915.5(ATL1):c.*212T>A
|
rs372073012
|
0.00010
|
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu)
|
rs145204580
|
0.00010
|
NM_016032.4(ZDHHC9):c.984C>G (p.Pro328=)
|
rs146317883
|
0.00010
|
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg)
|
rs897453553
|
0.00010
|
NM_020365.5(EIF2B3):c.633C>T (p.Ile211=)
|
rs139526549
|
0.00010
|
NM_020822.3(KCNT1):c.1337+16C>T
|
rs369329858
|
0.00010
|
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly)
|
rs150936707
|
0.00010
|
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp)
|
rs377061296
|
0.00010
|
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His)
|
rs548407874
|
0.00010
|
NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser)
|
rs370675810
|
0.00010
|
NM_021098.3(CACNA1H):c.2907+9C>T
|
rs200631961
|
0.00010
|
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=)
|
rs58033848
|
0.00010
|
NM_021098.3(CACNA1H):c.5295G>A (p.Ala1765=)
|
rs529851125
|
0.00010
|
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022
|
0.00010
|
NM_022168.4(IFIH1):c.2052T>C (p.Asn684=)
|
rs781523339
|
0.00010
|
NM_025137.4(SPG11):c.5608T>C (p.Leu1870=)
|
rs4254299
|
0.00010
|
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)
|
rs189308547
|
0.00010
|
NM_032737.4(LMNB2):c.1378G>A (p.Gly460Ser)
|
rs566078588
|
0.00010
|
NM_032776.3(JMJD1C):c.5271T>C (p.Phe1757=)
|
rs544719834
|
0.00010
|
NM_033629.6(TREX1):c.843C>T (p.Ala281=)
|
rs200719301
|
0.00010
|
NM_052874.5(STX1B):c.281-9C>T
|
rs777594824
|
0.00010
|
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=)
|
rs777574933
|
0.00010
|
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu)
|
rs146695372
|
0.00010
|
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=)
|
rs369555293
|
0.00010
|
NM_152309.3(PIK3AP1):c.2186G>A (p.Arg729His)
|
rs569632623
|
0.00010
|
NM_153252.5(BRWD3):c.*575G>T
|
rs776687351
|
0.00010
|
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=)
|
rs141951341
|
0.00010
|
NM_173354.5(SIK1):c.2059G>A (p.Ala687Thr)
|
rs752544370
|
0.00010
|
NM_173354.5(SIK1):c.2142G>A (p.Leu714=)
|
rs759724871
|
0.00010
|
NM_173728.4(ARHGEF15):c.711C>T (p.Val237=)
|
rs537744294
|
0.00010
|
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=)
|
rs372363091
|
0.00010
|
NM_182961.4(SYNE1):c.1729+14C>T
|
rs76417048
|
0.00010
|
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)
|
rs149272010
|
0.00010
|
NM_198859.4(PRICKLE2):c.1395C>T (p.Ile465=)
|
rs759852197
|
0.00010
|
NM_203446.3(SYNJ1):c.1182G>A (p.Gln394=)
|
rs540183181
|
0.00010
|
NM_205836.3(FBXO38):c.1394G>A (p.Arg465His)
|
rs200187682
|
0.00010
|
NM_000044.6(AR):c.2517C>T (p.Leu839=)
|
rs6153
|
0.00009
|
NM_000052.7(ATP7A):c.2407-14G>T
|
rs782184126
|
0.00009
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
NM_000146.4(FTL):c.250-6A>G
|
rs370216913
|
0.00009
|
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)
|
rs199879809
|
0.00009
|
NM_000284.4(PDHA1):c.118-17A>G
|
rs749601456
|
0.00009
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
NM_000484.4(APP):c.225+7C>A
|
rs201865168
|
0.00009
|
NM_000484.4(APP):c.786C>T (p.Tyr262=)
|
rs140941257
|
0.00009
|
NM_000487.6(ARSA):c.1345G>A (p.Gly449Arg)
|
rs117341984
|
0.00009
|
NM_000489.6(ATRX):c.189+7A>G
|
rs781842591
|
0.00009
|
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)
|
rs781811015
|
0.00009
|
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)
|
rs191563592
|
0.00009
|
NM_000489.6(ATRX):c.570T>G (p.Pro190=)
|
rs188831993
|
0.00009
|
NM_000489.6(ATRX):c.798C>T (p.Tyr266=)
|
rs376341197
|
0.00009
|
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn)
|
rs374501280
|
0.00009
|
NM_001003800.2(BICD2):c.1401C>T (p.His467=)
|
rs144442734
|
0.00009
|
NM_001029896.2(WDR45):c.974-4C>A
|
rs781876689
|
0.00009
|
NM_001040142.2(SCN2A):c.5208T>G (p.Asp1736Glu)
|
rs200016923
|
0.00009
|
NM_001099922.3(ALG13):c.1089T>C (p.Ala363=)
|
rs760208274
|
0.00009
|
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)
|
rs371707134
|
0.00009
|
NM_001110556.2(FLNA):c.2181C>T (p.Gly727=)
|
rs376972653
|
0.00009
|
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys)
|
rs369768801
|
0.00009
|
NM_001110556.2(FLNA):c.423C>T (p.Ile141=)
|
rs782198156
|
0.00009
|
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=)
|
rs191786597
|
0.00009
|
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)
|
rs367979917
|
0.00009
|
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=)
|
rs182894587
|
0.00009
|
NM_001110556.2(FLNA):c.7023+10C>T
|
rs782777494
|
0.00009
|
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)
|
rs781823700
|
0.00009
|
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)
|
rs782557713
|
0.00009
|
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=)
|
rs200694807
|
0.00009
|
NM_001110556.2(FLNA):c.7756+20G>A
|
rs782395246
|
0.00009
|
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys)
|
rs63094662
|
0.00009
|
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile)
|
rs61753966
|
0.00009
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)
|
rs267608626
|
0.00009
|
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala)
|
rs63485860
|
0.00009
|
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)
|
rs61750243
|
0.00009
|
NM_001111.5(ADAR):c.1851C>A (p.Thr617=)
|
rs764879657
|
0.00009
|
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys)
|
rs187393245
|
0.00009
|
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile)
|
rs373973880
|
0.00009
|
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=)
|
rs200180598
|
0.00009
|
NM_001130438.3(SPTAN1):c.4905+20G>A
|
rs200959763
|
0.00009
|
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr)
|
rs201411901
|
0.00009
|
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg)
|
rs144289764
|
0.00009
|
NM_001130438.3(SPTAN1):c.7402G>A (p.Val2468Met)
|
rs754362594
|
0.00009
|
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met)
|
rs148038464
|
0.00009
|
NM_001130823.3(DNMT1):c.4032G>A (p.Pro1344=)
|
rs150774582
|
0.00009
|
NM_001134407.3(GRIN2A):c.*5112C>T
|
rs553874602
|
0.00009
|
NM_001134407.3(GRIN2A):c.*6451C>T
|
rs199950051
|
0.00009
|
NM_001134407.3(GRIN2A):c.1057G>A (p.Glu353Lys)
|
rs373239575
|
0.00009
|
NM_001134407.3(GRIN2A):c.447G>A (p.Ala149=)
|
rs144464666
|
0.00009
|
NM_001244008.2(KIF1A):c.2925C>T (p.Ser975=)
|
rs556611351
|
0.00009
|
NM_001244008.2(KIF1A):c.3465C>T (p.Asn1155=)
|
rs371782922
|
0.00009
|
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=)
|
rs375309925
|
0.00009
|
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)
|
rs755088564
|
0.00009
|
NM_001271803.2(REEP2):c.252C>T (p.Ser84=)
|
rs766974492
|
0.00009
|
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr)
|
rs201893287
|
0.00009
|
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=)
|
rs370117126
|
0.00009
|
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)
|
rs79805025
|
0.00009
|
NM_001371928.1(AHDC1):c.1447G>A (p.Val483Ile)
|
rs140548603
|
0.00009
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830
|
0.00009
|
NM_001377265.1(MAPT):c.2406T>C (p.Asn802=)
|
rs115381139
|
0.00009
|
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met)
|
rs377604964
|
0.00009
|
NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr)
|
rs534413662
|
0.00009
|
NM_001378969.1(KCND3):c.1269+13C>T
|
rs72548726
|
0.00009
|
NM_001429.4(EP300):c.1443G>A (p.Pro481=)
|
rs374768898
|
0.00009
|
NM_001429.4(EP300):c.3162A>G (p.Leu1054=)
|
rs139758629
|
0.00009
|
NM_001429.4(EP300):c.5598G>A (p.Pro1866=)
|
rs560633624
|
0.00009
|
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His)
|
rs145018661
|
0.00009
|
NM_001845.6(COL4A1):c.405C>T (p.Leu135=)
|
rs138888319
|
0.00009
|
NM_001845.6(COL4A1):c.4150+3G>A
|
rs545498227
|
0.00009
|
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val)
|
rs72657933
|
0.00009
|
NM_001846.4(COL4A2):c.5070C>T (p.Ala1690=)
|
rs199809827
|
0.00009
|
NM_002047.4(GARS1):c.270C>T (p.Asp90=)
|
rs369898799
|
0.00009
|
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys)
|
rs373326652
|
0.00009
|
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=)
|
rs146064275
|
0.00009
|
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys)
|
rs749932332
|
0.00009
|
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=)
|
rs147141808
|
0.00009
|
NM_002778.4(PSAP):c.577-10T>C
|
rs185892516
|
0.00009
|
NM_003042.4(SLC6A1):c.953+18C>T
|
rs149997639
|
0.00009
|
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro)
|
rs940521825
|
0.00009
|
NM_003070.5(SMARCA2):c.734A>T (p.Gln245Leu)
|
rs760953290
|
0.00009
|
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=)
|
rs149670457
|
0.00009
|
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn)
|
rs200629777
|
0.00009
|
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp)
|
rs185589110
|
0.00009
|
NM_003560.4(PLA2G6):c.1742+12C>T
|
rs11570739
|
0.00009
|
NM_003719.5(PDE8B):c.*496A>G
|
rs369658924
|
0.00009
|
NM_004082.5(DCTN1):c.3573G>A (p.Gln1191=)
|
rs137966704
|
0.00009
|
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)
|
rs369930675
|
0.00009
|
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=)
|
rs377023934
|
0.00009
|
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=)
|
rs772392148
|
0.00009
|
NM_004380.3(CREBBP):c.681T>C (p.Pro227=)
|
rs201193684
|
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_004565.3(PEX14):c.488-14C>T
|
rs200684088
|
0.00009
|
NM_004975.4(KCNB1):c.1654G>A (p.Ala552Thr)
|
rs146429493
|
0.00009
|
NM_004975.4(KCNB1):c.1861G>T (p.Ala621Ser)
|
rs201960228
|
0.00009
|
NM_005120.3(MED12):c.2721G>A (p.Leu907=)
|
rs757010467
|
0.00009
|
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)
|
rs202009066
|
0.00009
|
NM_005120.3(MED12):c.5103T>C (p.Ser1701=)
|
rs762801267
|
0.00009
|
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)
|
rs201843482
|
0.00009
|
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=)
|
rs375755315
|
0.00009
|
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys)
|
rs199554411
|
0.00009
|
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)
|
rs376294666
|
0.00009
|
NM_005506.4(SCARB2):c.275+20T>C
|
rs377180838
|
0.00009
|
NM_005629.4(SLC6A8):c.1141+6G>A
|
rs373124777
|
0.00009
|
NM_005629.4(SLC6A8):c.1680G>A (p.Met560Ile)
|
rs781816805
|
0.00009
|
NM_005629.4(SLC6A8):c.282C>T (p.Tyr94=)
|
rs375818489
|
0.00009
|
NM_005629.4(SLC6A8):c.856C>T (p.Leu286=)
|
rs782005985
|
0.00009
|
NM_006267.5(RANBP2):c.8671G>A (p.Gly2891Ser)
|
rs376940698
|
0.00009
|
NM_006267.5(RANBP2):c.9216G>A (p.Ala3072=)
|
rs371443840
|
0.00009
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
NM_006516.4(SLC2A1):c.*463T>C
|
rs186437621
|
0.00009
|
NM_006516.4(SLC2A1):c.-26G>C
|
rs375001117
|
0.00009
|
NM_007126.5(VCP):c.1875G>T (p.Arg625=)
|
rs201410035
|
0.00009
|
NM_007126.5(VCP):c.2229G>A (p.Ala743=)
|
rs200767982
|
0.00009
|
NM_007327.4(GRIN1):c.1865-13C>T
|
rs201908310
|
0.00009
|
NM_012281.3(KCND2):c.708C>T (p.Cys236=)
|
rs183473998
|
0.00009
|
NM_013275.6(ANKRD11):c.7324C>T (p.Leu2442=)
|
rs373934412
|
0.00009
|
NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser)
|
rs150165045
|
0.00009
|
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=)
|
rs60284677
|
0.00009
|
NM_015046.7(SETX):c.5852A>G (p.His1951Arg)
|
rs146593865
|
0.00009
|
NM_015915.5(ATL1):c.417+3A>G
|
rs200310890
|
0.00009
|
NM_016032.4(ZDHHC9):c.144A>T (p.Thr48=)
|
rs145877196
|
0.00009
|
NM_016032.4(ZDHHC9):c.674+9C>T
|
rs376385410
|
0.00009
|
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys)
|
rs76204496
|
0.00009
|
NM_018026.4(PACS1):c.2413G>A (p.Ala805Thr)
|
rs184092629
|
0.00009
|
NM_018723.4(RBFOX1):c.708G>A (p.Glu236=)
|
rs368113568
|
0.00009
|
NM_018965.4(TREM2):c.*30G>A
|
rs75272959
|
0.00009
|
NM_020631.6(PLEKHG5):c.1934-16G>A
|
rs201675267
|
0.00009
|
NM_020708.5(SLC12A5):c.1926C>T (p.Gly642=)
|
rs748908890
|
0.00009
|
NM_020822.3(KCNT1):c.2008+10G>C
|
rs752453368
|
0.00009
|
NM_020822.3(KCNT1):c.2349+11C>T
|
rs374140862
|
0.00009
|
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=)
|
rs148001061
|
0.00009
|
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His)
|
rs374363044
|
0.00009
|
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn)
|
rs932161061
|
0.00009
|
NM_021098.3(CACNA1H):c.1673C>T (p.Ser558Leu)
|
rs771714007
|
0.00009
|
NM_021098.3(CACNA1H):c.1942C>T (p.Pro648Ser)
|
rs373669637
|
0.00009
|
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=)
|
rs568667163
|
0.00009
|
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys)
|
rs756154211
|
0.00009
|
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu)
|
rs775405041
|
0.00009
|
NM_021098.3(CACNA1H):c.3744+9G>A
|
rs377367672
|
0.00009
|
NM_021098.3(CACNA1H):c.433G>A (p.Ala145Thr)
|
rs200483658
|
0.00009
|
NM_021098.3(CACNA1H):c.543G>A (p.Ala181=)
|
rs781049180
|
0.00009
|
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro)
|
rs61742096
|
0.00009
|
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile)
|
rs750277154
|
0.00009
|
NM_021098.3(CACNA1H):c.6143C>T (p.Pro2048Leu)
|
rs535814707
|
0.00009
|
NM_021098.3(CACNA1H):c.6808C>T (p.Pro2270Ser)
|
rs369693777
|
0.00009
|
NM_021815.5(SLC5A7):c.1440A>G (p.Lys480=)
|
rs3731682
|
0.00009
|
NM_021815.5(SLC5A7):c.474T>C (p.Asp158=)
|
rs201965363
|
0.00009
|
NM_022089.4(ATP13A2):c.635+15G>A
|
rs563778719
|
0.00009
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
NM_024411.5(PDYN):c.*78A>G
|
rs537887207
|
0.00009
|
NM_024665.7(TBL1XR1):c.90A>C (p.Ile30=)
|
rs201359736
|
0.00009
|
NM_032737.4(LMNB2):c.514G>A (p.Gly172Ser)
|
rs145110937
|
0.00009
|
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=)
|
rs373768055
|
0.00009
|
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser)
|
rs182495915
|
0.00009
|
NM_033629.6(TREX1):c.504C>G (p.Pro168=)
|
rs747052975
|
0.00009
|
NM_080632.3(UPF3B):c.1302+8T>C
|
rs776786838
|
0.00009
|
NM_080632.3(UPF3B):c.470-19T>C
|
rs779967826
|
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_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys)
|
rs373536274
|
0.00009
|
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=)
|
rs192936944
|
0.00009
|
NM_182961.4(SYNE1):c.21195+12A>G
|
rs200930593
|
0.00009
|
NM_198859.4(PRICKLE2):c.267T>C (p.Tyr89=)
|
rs199642985
|
0.00009
|
NM_205836.3(FBXO38):c.1738+8T>A
|
rs369463389
|
0.00009
|
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr)
|
rs781817601
|
0.00008
|
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)
|
rs147848649
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000284.4(PDHA1):c.418+8G>A
|
rs779583146
|
0.00008
|
NM_000284.4(PDHA1):c.708G>A (p.Ala236=)
|
rs750307419
|
0.00008
|
NM_000284.4(PDHA1):c.870C>T (p.His290=)
|
rs761411007
|
0.00008
|
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)
|
rs537585211
|
0.00008
|
NM_000489.6(ATRX):c.2530A>G (p.Thr844Ala)
|
rs142601264
|
0.00008
|
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=)
|
rs782633224
|
0.00008
|
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=)
|
rs201488442
|
0.00008
|
NM_000748.3(CHRNB2):c.211-13T>C
|
rs201514937
|
0.00008
|
NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly)
|
rs199526748
|
0.00008
|
NM_001003800.2(BICD2):c.1370G>A (p.Arg457His)
|
rs370118099
|
0.00008
|
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val)
|
rs149891938
|
0.00008
|
NM_001015877.2(PHF6):c.714C>T (p.Ala238=)
|
rs761180935
|
0.00008
|
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=)
|
rs543538780
|
0.00008
|
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=)
|
rs571408286
|
0.00008
|
NM_001077350.3(NPRL3):c.768-15G>A
|
rs189005933
|
0.00008
|
NM_001099922.3(ALG13):c.2933-15G>T
|
rs372767806
|
0.00008
|
NM_001099922.3(ALG13):c.384-5C>T
|
rs763318921
|
0.00008
|
NM_001099922.3(ALG13):c.975T>G (p.Thr325=)
|
rs767735916
|
0.00008
|
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)
|
rs782684339
|
0.00008
|
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=)
|
rs782741007
|
0.00008
|
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr)
|
rs185503240
|
0.00008
|
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=)
|
rs368009936
|
0.00008
|
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile)
|
rs782265007
|
0.00008
|
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu)
|
rs377576796
|
0.00008
|
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)
|
rs587781033
|
0.00008
|
NM_001111125.3(IQSEC2):c.2297+4C>T
|
rs781794155
|
0.00008
|
NM_001127222.2(CACNA1A):c.321C>T (p.Thr107=)
|
rs759754710
|
0.00008
|
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys)
|
rs769094437
|
0.00008
|
NM_001130438.3(SPTAN1):c.237+10A>G
|
rs746224717
|
0.00008
|
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala)
|
rs756560952
|
0.00008
|
NM_001130438.3(SPTAN1):c.6081C>T (p.Asp2027=)
|
rs150801649
|
0.00008
|
NM_001134407.3(GRIN2A):c.*6449G>T
|
rs140145510
|
0.00008
|
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser)
|
rs143693526
|
0.00008
|
NM_001165963.4(SCN1A):c.1624C>A (p.Arg542=)
|
rs138877187
|
0.00008
|
NM_001172509.2(SATB2):c.306G>A (p.Leu102=)
|
rs201405384
|
0.00008
|
NM_001244008.2(KIF1A):c.1596C>T (p.Gly532=)
|
rs754916421
|
0.00008
|
NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu)
|
rs201104498
|
0.00008
|
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu)
|
rs371605184
|
0.00008
|
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=)
|
rs150129110
|
0.00008
|
NM_001365536.1(SCN9A):c.4176C>T (p.Val1392=)
|
rs558455181
|
0.00008
|
NM_001371727.1(GABRB2):c.1191G>A (p.Thr397=)
|
rs373911261
|
0.00008
|
NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro)
|
rs761395486
|
0.00008
|
NM_001378452.1(ITPR1):c.997-6C>T
|
rs139421901
|
0.00008
|
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro)
|
rs200499648
|
0.00008
|
NM_001429.4(EP300):c.45G>A (p.Arg15=)
|
rs752119517
|
0.00008
|
NM_001429.4(EP300):c.6729C>T (p.Gly2243=)
|
rs765194008
|
0.00008
|
NM_001429.4(EP300):c.752A>G (p.Asn251Ser)
|
rs142009367
|
0.00008
|
NM_001845.6(COL4A1):c.2869+6T>C
|
rs557198622
|
0.00008
|
NM_001846.4(COL4A2):c.3856C>T (p.Pro1286Ser)
|
rs75571926
|
0.00008
|
NM_002047.4(GARS1):c.882-15T>G
|
rs199741850
|
0.00008
|
NM_002087.4(GRN):c.626C>T (p.Pro209Leu)
|
rs368995988
|
0.00008
|
NM_002180.3(IGHMBP2):c.548-20C>T
|
rs368802434
|
0.00008
|
NM_002397.5(MEF2C):c.363C>T (p.Asn121=)
|
rs186648089
|
0.00008
|
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln)
|
rs778585528
|
0.00008
|
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys)
|
rs763239423
|
0.00008
|
NM_002641.4(PIGA):c.1188G>A (p.Lys396=)
|
rs754561270
|
0.00008
|
NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=)
|
rs200087760
|
0.00008
|
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg)
|
rs373305404
|
0.00008
|
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr)
|
rs371005753
|
0.00008
|
NM_003334.4(UBA1):c.679-16C>T
|
rs200690232
|
0.00008
|
NM_003560.4(PLA2G6):c.402C>T (p.Cys134=)
|
rs200522242
|
0.00008
|
NM_004082.5(DCTN1):c.3546G>A (p.Ser1182=)
|
rs149440626
|
0.00008
|
NM_004168.4(SDHA):c.1089C>T (p.His363=)
|
rs368488126
|
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_005045.4(RELN):c.697G>A (p.Ala233Thr)
|
rs181961566
|
0.00008
|
NM_005045.4(RELN):c.9708C>T (p.Ser3236=)
|
rs200370282
|
0.00008
|
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro)
|
rs747413033
|
0.00008
|
NM_005120.3(MED12):c.4425A>G (p.Leu1475=)
|
rs370211858
|
0.00008
|
NM_005120.3(MED12):c.4851G>A (p.Ala1617=)
|
rs377210068
|
0.00008
|
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=)
|
rs782684668
|
0.00008
|
NM_005629.4(SLC6A8):c.1155C>T (p.Ala385=)
|
rs782477779
|
0.00008
|
NM_005629.4(SLC6A8):c.1497A>G (p.Gly499=)
|
rs199640501
|
0.00008
|
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met)
|
rs1301772452
|
0.00008
|
NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg)
|
rs558739370
|
0.00008
|
NM_006267.5(RANBP2):c.1740A>G (p.Glu580=)
|
rs554245982
|
0.00008
|
NM_006267.5(RANBP2):c.2625A>G (p.Val875=)
|
rs200515712
|
0.00008
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
NM_006612.6(KIF1C):c.1605C>T (p.Thr535=)
|
rs145893640
|
0.00008
|
NM_006772.3(SYNGAP1):c.3364G>A (p.Gly1122Ser)
|
rs755386745
|
0.00008
|
NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=)
|
rs199559258
|
0.00008
|
NM_007327.4(GRIN1):c.2328C>T (p.Ile776=)
|
rs200088954
|
0.00008
|
NM_013254.4(TBK1):c.630A>T (p.Thr210=)
|
rs201336522
|
0.00008
|
NM_013275.6(ANKRD11):c.2505C>T (p.Asp835=)
|
rs544199816
|
0.00008
|
NM_013275.6(ANKRD11):c.2610C>T (p.Ser870=)
|
rs142560514
|
0.00008
|
NM_014271.4(IL1RAPL1):c.550-4A>G
|
rs368301683
|
0.00008
|
NM_014795.4(ZEB2):c.73+6A>C
|
rs756924190
|
0.00008
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)
|
rs117229601
|
0.00008
|
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly)
|
rs371687197
|
0.00008
|
NM_015046.7(SETX):c.5842A>G (p.Met1948Val)
|
rs762267386
|
0.00008
|
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)
|
rs147705644
|
0.00008
|
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)
|
rs567672087
|
0.00008
|
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=)
|
rs3761169
|
0.00008
|
NM_015338.6(ASXL1):c.3427A>C (p.Ser1143Arg)
|
rs752770575
|
0.00008
|
NM_015509.4(NECAP1):c.492+19A>G
|
rs150800929
|
0.00008
|
NM_016032.4(ZDHHC9):c.1033G>A (p.Glu345Lys)
|
rs185917523
|
0.00008
|
NM_016032.4(ZDHHC9):c.168-18A>G
|
rs753763200
|
0.00008
|
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)
|
rs377732929
|
0.00008
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_020919.4(ALS2):c.4123-20T>C
|
rs191569890
|
0.00008
|
NM_020988.3(GNAO1):c.286G>A (p.Gly96Ser)
|
rs559674838
|
0.00008
|
NM_021098.3(CACNA1H):c.149C>T (p.Pro50Leu)
|
rs746716155
|
0.00008
|
NM_021098.3(CACNA1H):c.3439A>G (p.Ser1147Gly)
|
rs780122141
|
0.00008
|
NM_021098.3(CACNA1H):c.3472G>A (p.Gly1158Ser)
|
rs556556052
|
0.00008
|
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser)
|
rs780831084
|
0.00008
|
NM_021098.3(CACNA1H):c.5976C>T (p.Gly1992=)
|
rs367929249
|
0.00008
|
NM_021098.3(CACNA1H):c.718G>A (p.Val240Ile)
|
rs369630836
|
0.00008
|
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)
|
rs140535889
|
0.00008
|
NM_025219.3(DNAJC5):c.*728G>A
|
rs150670642
|
0.00008
|
NM_032409.3(PINK1):c.804A>G (p.Leu268=)
|
rs200708848
|
0.00008
|
NM_032737.4(LMNB2):c.1711-7C>T
|
rs200122476
|
0.00008
|
NM_032737.4(LMNB2):c.403G>A (p.Ala135Thr)
|
rs372474156
|
0.00008
|
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=)
|
rs749966154
|
0.00008
|
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser)
|
rs775715153
|
0.00008
|
NM_144599.5(NIPA1):c.*4792G>T
|
rs139161065
|
0.00008
|
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln)
|
rs371360176
|
0.00008
|
NM_152743.4(BRAT1):c.1598-20G>A
|
rs141753173
|
0.00008
|
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)
|
rs587780369
|
0.00008
|
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)
|
rs118022241
|
0.00008
|
NM_203446.3(SYNJ1):c.2691G>A (p.Leu897=)
|
rs115263361
|
0.00008
|
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=)
|
rs781928741
|
0.00007
|
NM_000033.4(ABCD1):c.1865+16C>T
|
rs782719238
|
0.00007
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)
|
rs782453684
|
0.00007
|
NM_000033.4(ABCD1):c.870G>A (p.Ser290=)
|
rs782563177
|
0.00007
|
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met)
|
rs781844108
|
0.00007
|
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp)
|
rs782415705
|
0.00007
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile)
|
rs781873881
|
0.00007
|
NM_000061.3(BTK):c.1977C>T (p.Ser659=)
|
rs782047787
|
0.00007
|
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=)
|
rs773338429
|
0.00007
|
NM_000284.4(PDHA1):c.217C>A (p.Arg73=)
|
rs761538559
|
0.00007
|
NM_000287.4(PEX6):c.1680C>T (p.Pro560=)
|
rs372998833
|
0.00007
|
NM_000330.4(RS1):c.185-3134G>A
|
rs202153551
|
0.00007
|
NM_000330.4(RS1):c.326+1085G>A
|
rs778757202
|
0.00007
|
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)
|
rs141482368
|
0.00007
|
NM_000489.6(ATRX):c.1245C>T (p.Ser415=)
|
rs141815992
|
0.00007
|
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg)
|
rs782598442
|
0.00007
|
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)
|
rs149232501
|
0.00007
|
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn)
|
rs151273832
|
0.00007
|
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln)
|
rs782708557
|
0.00007
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
NM_000702.4(ATP1A2):c.*15G>A
|
rs187737212
|
0.00007
|
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=)
|
rs139022921
|
0.00007
|
NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp)
|
rs751699392
|
0.00007
|
NM_000750.5(CHRNB4):c.498C>G (p.Asn166Lys)
|
rs148540431
|
0.00007
|
NM_000834.5(GRIN2B):c.2628G>A (p.Ala876=)
|
rs199710029
|
0.00007
|
NM_001003800.2(BICD2):c.1738C>T (p.Arg580Trp)
|
rs573861187
|
0.00007
|
NM_001003800.2(BICD2):c.2142G>C (p.Lys714Asn)
|
rs777986224
|
0.00007
|
NM_001029896.2(WDR45):c.250G>A (p.Asp84Asn)
|
rs142809324
|
0.00007
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
NM_001099922.3(ALG13):c.288C>T (p.Leu96=)
|
rs369867857
|
0.00007
|
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=)
|
rs782615607
|
0.00007
|
NM_001110556.2(FLNA):c.2023-4C>G
|
rs368719012
|
0.00007
|
NM_001110556.2(FLNA):c.2522G>A (p.Arg841Gln)
|
rs201451383
|
0.00007
|
NM_001110556.2(FLNA):c.2657-19G>A
|
rs782352062
|
0.00007
|
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)
|
rs781844419
|
0.00007
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=)
|
rs1324902589
|
0.00007
|
NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu)
|
rs782649462
|
0.00007
|
NM_001110556.2(FLNA):c.5190C>T (p.His1730=)
|
rs781793192
|
0.00007
|
NM_001110556.2(FLNA):c.6227-10C>T
|
rs782748718
|
0.00007
|
NM_001110556.2(FLNA):c.6651G>A (p.Lys2217=)
|
rs782053982
|
0.00007
|
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)
|
rs727503930
|
0.00007
|
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00007
|
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)
|
rs61750246
|
0.00007
|
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=)
|
rs61753964
|
0.00007
|
NM_001111125.3(IQSEC2):c.214C>T (p.Leu72=)
|
rs782434593
|
0.00007
|
NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu)
|
rs142545002
|
0.00007
|
NM_001111125.3(IQSEC2):c.2262G>A (p.Arg754=)
|
rs1408670208
|
0.00007
|
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His)
|
rs782727618
|
0.00007
|
NM_001111125.3(IQSEC2):c.3015+9A>G
|
rs781956154
|
0.00007
|
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser)
|
rs782101524
|
0.00007
|
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=)
|
rs781940286
|
0.00007
|
NM_001122752.2(SERPINI1):c.251-10C>G
|
rs200606523
|
0.00007
|
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu)
|
rs1038705410
|
0.00007
|
NM_001130438.3(SPTAN1):c.237+4C>T
|
rs371350283
|
0.00007
|
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln)
|
rs560719289
|
0.00007
|
NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr)
|
rs375244907
|
0.00007
|
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=)
|
rs375649697
|
0.00007
|
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=)
|
rs367637414
|
0.00007
|
NM_001134407.3(GRIN2A):c.3795G>T (p.Gln1265His)
|
rs147556384
|
0.00007
|
NM_001172509.2(SATB2):c.1776G>A (p.Glu592=)
|
rs375553887
|
0.00007
|
NM_001191061.2(SLC25A22):c.743-16C>T
|
rs200493024
|
0.00007
|
NM_001199753.2(CPT1C):c.141+10G>A
|
rs138313329
|
0.00007
|
NM_001199753.2(CPT1C):c.996C>T (p.His332=)
|
rs199774629
|
0.00007
|
NM_001242896.3(DEPDC5):c.4764C>T (p.Val1588=)
|
rs540471738
|
0.00007
|
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His)
|
rs756912340
|
0.00007
|
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=)
|
rs369561849
|
0.00007
|
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=)
|
rs587783154
|
0.00007
|
NM_001323289.2(CDKL5):c.2256A>G (p.Arg752=)
|
rs770193102
|
0.00007
|
NM_001330260.2(SCN8A):c.855C>T (p.Pro285=)
|
rs200784857
|
0.00007
|
NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser)
|
rs147973077
|
0.00007
|
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=)
|
rs782313473
|
0.00007
|
NM_001371928.1(AHDC1):c.4178G>A (p.Gly1393Asp)
|
rs148277570
|
0.00007
|
NM_001378120.1(MBD5):c.4294G>A (p.Gly1432Arg)
|
rs201334086
|
0.00007
|
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
|
rs140791936
|
0.00007
|
NM_001540.5(HSPB1):c.501C>T (p.Ala167=)
|
rs529095936
|
0.00007
|
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)
|
rs775563545
|
0.00007
|
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val)
|
rs201150281
|
0.00007
|
NM_001846.4(COL4A2):c.4436C>T (p.Pro1479Leu)
|
rs377115391
|
0.00007
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002541.4(OGDH):c.3051C>T (p.Asp1017=)
|
rs199595163
|
0.00007
|
NM_002641.4(PIGA):c.384T>C (p.His128=)
|
rs750216116
|
0.00007
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
NM_002739.5(PRKCG):c.498G>T (p.Arg166=)
|
rs148370843
|
0.00007
|
NM_003042.4(SLC6A1):c.1663A>G (p.Met555Val)
|
rs139846326
|
0.00007
|
NM_003070.5(SMARCA2):c.1737G>A (p.Pro579=)
|
rs371544356
|
0.00007
|
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=)
|
rs140464170
|
0.00007
|
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=)
|
rs28997581
|
0.00007
|
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu)
|
rs781842141
|
0.00007
|
NM_003334.4(UBA1):c.253G>A (p.Val85Met)
|
rs782796398
|
0.00007
|
NM_003334.4(UBA1):c.720C>T (p.His240=)
|
rs193168226
|
0.00007
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
NM_004115.4(FGF14):c.*567G>C
|
rs546536488
|
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_004408.4(DNM1):c.2541G>A (p.Ser847=)
|
rs545142847
|
0.00007
|
NM_004519.4(KCNQ3):c.*4982A>T
|
rs545252668
|
0.00007
|
NM_004565.3(PEX14):c.1107C>T (p.Gly369=)
|
rs781098256
|
0.00007
|
NM_004974.4(KCNA2):c.1143T>C (p.Val381=)
|
rs200847196
|
0.00007
|
NM_005120.3(MED12):c.1167G>A (p.Lys389=)
|
rs374324656
|
0.00007
|
NM_005120.3(MED12):c.3111G>A (p.Thr1037=)
|
rs185658730
|
0.00007
|
NM_005120.3(MED12):c.4359G>A (p.Lys1453=)
|
rs766087487
|
0.00007
|
NM_005120.3(MED12):c.4950G>A (p.Thr1650=)
|
rs756839501
|
0.00007
|
NM_005120.3(MED12):c.5593A>G (p.Met1865Val)
|
rs587778438
|
0.00007
|
NM_005120.3(MED12):c.5712G>A (p.Ala1904=)
|
rs189962028
|
0.00007
|
NM_005334.3(HCFC1):c.1085-16C>G
|
rs201181843
|
0.00007
|
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)
|
rs782754046
|
0.00007
|
NM_005334.3(HCFC1):c.2029-9C>G
|
rs374910917
|
0.00007
|
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=)
|
rs782058954
|
0.00007
|
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met)
|
rs183246703
|
0.00007
|
NM_005629.4(SLC6A8):c.1597-20C>T
|
rs781894858
|
0.00007
|
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)
|
rs752026201
|
0.00007
|
NM_006267.5(RANBP2):c.9035-4C>T
|
rs753514543
|
0.00007
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
NM_006796.2(AFG3L2):c.-151C>T
|
rs554944971
|
0.00007
|
NM_006950.3(SYN1):c.981-19C>T
|
rs375349005
|
0.00007
|
NM_007327.4(GRIN1):c.1131G>A (p.Arg377=)
|
rs778284712
|
0.00007
|
NM_012193.4(FZD4):c.*4618G>A
|
rs147043943
|
0.00007
|
NM_012338.4(TSPAN12):c.*1243A>T
|
rs189221112
|
0.00007
|
NM_013275.6(ANKRD11):c.4382A>G (p.Lys1461Arg)
|
rs769926682
|
0.00007
|
NM_013444.4(UBQLN2):c.1302G>T (p.Leu434=)
|
rs759543866
|
0.00007
|
NM_014795.4(ZEB2):c.297C>T (p.Asn99=)
|
rs147603619
|
0.00007
|
NM_014795.4(ZEB2):c.3285G>A (p.Ala1095=)
|
rs201630448
|
0.00007
|
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)
|
rs141163823
|
0.00007
|
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)
|
rs150421712
|
0.00007
|
NM_015214.3(DDHD2):c.21A>G (p.Gln7=)
|
rs182341575
|
0.00007
|
NM_017514.5(PLXNA3):c.1847G>A (p.Arg616Gln)
|
rs200042650
|
0.00007
|
NM_018026.4(PACS1):c.1993+18C>T
|
rs543655686
|
0.00007
|
NM_018026.4(PACS1):c.2454C>T (p.Asp818=)
|
rs142615271
|
0.00007
|
NM_020822.3(KCNT1):c.335-16G>A
|
rs151217665
|
0.00007
|
NM_020988.3(GNAO1):c.450C>T (p.Asn150=)
|
rs185369495
|
0.00007
|
NM_020988.3(GNAO1):c.687C>T (p.Ser229=)
|
rs546569747
|
0.00007
|
NM_021098.3(CACNA1H):c.1543C>T (p.His515Tyr)
|
rs368210728
|
0.00007
|
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)
|
rs539324457
|
0.00007
|
NM_021098.3(CACNA1H):c.3507C>T (p.Gly1169=)
|
rs200522574
|
0.00007
|
NM_021098.3(CACNA1H):c.3519C>T (p.Gly1173=)
|
rs753767261
|
0.00007
|
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp)
|
rs576035669
|
0.00007
|
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile)
|
rs370883583
|
0.00007
|
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys)
|
rs369185359
|
0.00007
|
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val)
|
rs763675499
|
0.00007
|
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe)
|
rs201577113
|
0.00007
|
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)
|
rs546957932
|
0.00007
|
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln)
|
rs200017837
|
0.00007
|
NM_024570.4(RNASEH2B):c.822+16T>C
|
rs750179605
|
0.00007
|
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)
|
rs370282739
|
0.00007
|
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=)
|
rs766767923
|
0.00007
|
NM_032193.4(RNASEH2C):c.*1621A>G
|
rs373799308
|
0.00007
|
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr)
|
rs57521499
|
0.00007
|
NM_032737.4(LMNB2):c.1407G>A (p.Ser469=)
|
rs200879771
|
0.00007
|
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn)
|
rs199727706
|
0.00007
|
NM_145725.3(TRAF3):c.576C>T (p.His192=)
|
rs554723538
|
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_152564.5(VPS13B):c.1303-4A>G
|
rs772842729
|
0.00007
|
NM_198904.4(GABRG2):c.769+18A>G
|
rs2422105
|
0.00007
|
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=)
|
rs781832055
|
0.00006
|
NM_000052.7(ATP7A):c.493A>G (p.Met165Val)
|
rs782097214
|
0.00006
|
NM_000081.4(LYST):c.6078C>T (p.Tyr2026=)
|
rs80338660
|
0.00006
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_000170.3(GLDC):c.2920-8C>T
|
rs138786708
|
0.00006
|
NM_000330.4(RS1):c.185-3189C>T
|
rs570887192
|
0.00006
|
NM_000330.4(RS1):c.326+1183G>A
|
rs201714912
|
0.00006
|
NM_000368.5(TSC1):c.*2168C>T
|
rs532469694
|
0.00006
|
NM_000484.4(APP):c.975C>T (p.Gly325=)
|
rs201622977
|
0.00006
|
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)
|
rs149249195
|
0.00006
|
NM_000489.6(ATRX):c.12G>A (p.Glu4=)
|
rs782765957
|
0.00006
|
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)
|
rs61752457
|
0.00006
|
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)
|
rs376906761
|
0.00006
|
NM_000489.6(ATRX):c.2313G>A (p.Ala771=)
|
rs373458498
|
0.00006
|
NM_000489.6(ATRX):c.2397G>C (p.Lys799Asn)
|
rs782253706
|
0.00006
|
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr)
|
rs781825074
|
0.00006
|
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn)
|
rs782512381
|
0.00006
|
NM_000489.6(ATRX):c.370+8G>A
|
rs782746673
|
0.00006
|
NM_000489.6(ATRX):c.3972A>G (p.Ser1324=)
|
rs782638271
|
0.00006
|
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)
|
rs781984385
|
0.00006
|
NM_000489.6(ATRX):c.485-18G>A
|
rs782461396
|
0.00006
|
NM_000489.6(ATRX):c.5001C>T (p.Tyr1667=)
|
rs202114901
|
0.00006
|
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=)
|
rs199621678
|
0.00006
|
NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=)
|
rs140646289
|
0.00006
|
NM_000702.4(ATP1A2):c.2563+14C>T
|
rs371413060
|
0.00006
|
NM_000742.4(CHRNA2):c.1432G>A (p.Asp478Asn)
|
rs141072985
|
0.00006
|
NM_000744.7(CHRNA4):c.711C>T (p.Phe237=)
|
rs144446511
|
0.00006
|
NM_000815.5(GABRD):c.747G>C (p.Val249=)
|
rs199993714
|
0.00006
|
NM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr)
|
rs145021339
|
0.00006
|
NM_000834.5(GRIN2B):c.270T>C (p.Ser90=)
|
rs540429850
|
0.00006
|
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys)
|
rs141109968
|
0.00006
|
NM_000834.5(GRIN2B):c.3797C>T (p.Pro1266Leu)
|
rs201947553
|
0.00006
|
NM_000834.5(GRIN2B):c.3818C>A (p.Thr1273Lys)
|
rs531747728
|
0.00006
|
NM_000834.5(GRIN2B):c.4270C>T (p.Leu1424Phe)
|
rs748128078
|
0.00006
|
NM_001003787.4(STRADA):c.738C>T (p.Pro246=)
|
rs199569051
|
0.00006
|
NM_001003800.2(BICD2):c.981G>A (p.Pro327=)
|
rs200288349
|
0.00006
|
NM_001029896.2(WDR45):c.130+13C>T
|
rs782457722
|
0.00006
|
NM_001032221.6(STXBP1):c.247-10C>G
|
rs376599576
|
0.00006
|
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=)
|
rs201302013
|
0.00006
|
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=)
|
rs200546427
|
0.00006
|
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp)
|
rs368887417
|
0.00006
|
NM_001099922.3(ALG13):c.2369-19T>C
|
rs376719251
|
0.00006
|
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu)
|
rs200293248
|
0.00006
|
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile)
|
rs782007408
|
0.00006
|
NM_001110556.2(FLNA):c.13C>T (p.His5Tyr)
|
rs781866647
|
0.00006
|
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=)
|
rs202055800
|
0.00006
|
NM_001110556.2(FLNA):c.2451C>T (p.Pro817=)
|
rs782192587
|
0.00006
|
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser)
|
rs372718245
|
0.00006
|
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=)
|
rs183948518
|
0.00006
|
NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln)
|
rs781882457
|
0.00006
|
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=)
|
rs782204300
|
0.00006
|
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys)
|
rs781860863
|
0.00006
|
NM_001110556.2(FLNA):c.6303G>A (p.Thr2101=)
|
rs372978023
|
0.00006
|
NM_001110556.2(FLNA):c.66C>T (p.Asp22=)
|
rs782358007
|
0.00006
|
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=)
|
rs201203814
|
0.00006
|
NM_001110556.2(FLNA):c.768T>C (p.Ser256=)
|
rs782357419
|
0.00006
|
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys)
|
rs200836471
|
0.00006
|
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp)
|
rs61752361
|
0.00006
|
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=)
|
rs61750236
|
0.00006
|
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser)
|
rs782050077
|
0.00006
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
NM_001110792.2(MECP2):c.414-20C>G
|
rs368684221
|
0.00006
|
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)
|
rs138211345
|
0.00006
|
NM_001110792.2(MECP2):c.90C>G (p.Leu30=)
|
rs372500343
|
0.00006
|
NM_001111125.3(IQSEC2):c.2582+11C>A
|
rs782764289
|
0.00006
|
NM_001111125.3(IQSEC2):c.3015+16G>A
|
rs184771608
|
0.00006
|
NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser)
|
rs782355048
|
0.00006
|
NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys)
|
rs368081042
|
0.00006
|
NM_001127222.2(CACNA1A):c.294-6C>T
|
rs764502828
|
0.00006
|
NM_001127222.2(CACNA1A):c.4404G>A (p.Ser1468=)
|
rs557205300
|
0.00006
|
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=)
|
rs16045
|
0.00006
|
NM_001127644.2(GABRA1):c.704-10T>C
|
rs188133840
|
0.00006
|
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met)
|
rs375623472
|
0.00006
|
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)
|
rs142498180
|
0.00006
|
NM_001130438.3(SPTAN1):c.6689+17G>A
|
rs143675512
|
0.00006
|
NM_001130823.3(DNMT1):c.1722G>A (p.Val574=)
|
rs140376680
|
0.00006
|
NM_001130823.3(DNMT1):c.1845G>A (p.Ala615=)
|
rs761852984
|
0.00006
|
NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys)
|
rs201308454
|
0.00006
|
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=)
|
rs147755768
|
0.00006
|
NM_001134407.3(GRIN2A):c.*5076G>C
|
rs182876220
|
0.00006
|
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr)
|
rs757464009
|
0.00006
|
NM_001134407.3(GRIN2A):c.2250C>T (p.Ile750=)
|
rs143779792
|
0.00006
|
NM_001134407.3(GRIN2A):c.2331G>A (p.Leu777=)
|
rs118035164
|
0.00006
|
NM_001166114.2(PNPLA6):c.2712C>T (p.Gly904=)
|
rs748031664
|
0.00006
|
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=)
|
rs35770729
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001244008.2(KIF1A):c.2078C>T (p.Pro693Leu)
|
rs756842462
|
0.00006
|
NM_001244008.2(KIF1A):c.3213A>C (p.Pro1071=)
|
rs201232478
|
0.00006
|
NM_001244008.2(KIF1A):c.4601C>T (p.Ser1534Leu)
|
rs371486580
|
0.00006
|
NM_001271.4(CHD2):c.153C>T (p.Ser51=)
|
rs201752698
|
0.00006
|
NM_001271.4(CHD2):c.261C>G (p.Ala87=)
|
rs367968143
|
0.00006
|
NM_001271.4(CHD2):c.5050C>T (p.His1684Tyr)
|
rs746849506
|
0.00006
|
NM_001271.4(CHD2):c.551+13C>T
|
rs137954528
|
0.00006
|
NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His)
|
rs201569135
|
0.00006
|
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu)
|
rs199897804
|
0.00006
|
NM_001330260.2(SCN8A):c.3710A>G (p.Lys1237Arg)
|
rs377197765
|
0.00006
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
NM_001330260.2(SCN8A):c.615-144C>T
|
rs192982781
|
0.00006
|
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr)
|
rs200808105
|
0.00006
|
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly)
|
rs143498500
|
0.00006
|
NM_001347721.2(DYRK1A):c.925-8T>C
|
rs199804785
|
0.00006
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
NM_001368809.2(AMPD2):c.2158-9C>A
|
rs756915998
|
0.00006
|
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His)
|
rs371217448
|
0.00006
|
NM_001371727.1(GABRB2):c.1190C>T (p.Thr397Met)
|
rs375083192
|
0.00006
|
NM_001371727.1(GABRB2):c.542-8T>C
|
rs546965842
|
0.00006
|
NM_001371928.1(AHDC1):c.3367G>A (p.Ala1123Thr)
|
rs534403874
|
0.00006
|
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=)
|
rs566865279
|
0.00006
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412
|
0.00006
|
NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)
|
rs143138715
|
0.00006
|
NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser)
|
rs150972614
|
0.00006
|
NM_001386393.1(PANK2):c.132C>T (p.Asp44=)
|
rs781106176
|
0.00006
|
NM_001386393.1(PANK2):c.624G>A (p.Ala208=)
|
rs78631398
|
0.00006
|
NM_001429.4(EP300):c.1540A>G (p.Met514Val)
|
rs765266179
|
0.00006
|
NM_001429.4(EP300):c.2405C>T (p.Pro802Leu)
|
rs749702423
|
0.00006
|
NM_001429.4(EP300):c.3750C>T (p.Cys1250=)
|
rs747187417
|
0.00006
|
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly)
|
rs769796204
|
0.00006
|
NM_001429.4(EP300):c.7114A>G (p.Met2372Val)
|
rs768061933
|
0.00006
|
NM_001845.6(COL4A1):c.*766G>A
|
rs371130027
|
0.00006
|
NM_001846.4(COL4A2):c.1945C>T (p.Pro649Ser)
|
rs370641410
|
0.00006
|
NM_001846.4(COL4A2):c.708C>T (p.Tyr236=)
|
rs775257372
|
0.00006
|
NM_001909.5(CTSD):c.926G>A (p.Arg309His)
|
rs374540411
|
0.00006
|
NM_001958.5(EEF1A2):c.1030-10C>A
|
rs571276508
|
0.00006
|
NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=)
|
rs199643016
|
0.00006
|
NM_001958.5(EEF1A2):c.1264+18G>A
|
rs748993770
|
0.00006
|
NM_001958.5(EEF1A2):c.561C>T (p.Thr187=)
|
rs376891760
|
0.00006
|
NM_001958.5(EEF1A2):c.726G>A (p.Thr242=)
|
rs1005974432
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968
|
0.00006
|
NM_002137.4(HNRNPA2B1):c.475+9C>T
|
rs199612730
|
0.00006
|
NM_002541.4(OGDH):c.1422C>T (p.His474=)
|
rs79522383
|
0.00006
|
NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His)
|
rs759436020
|
0.00006
|
NM_002618.4(PEX13):c.913+19G>A
|
rs189410109
|
0.00006
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00006
|
NM_002693.3(POLG):c.3405C>T (p.Asp1135=)
|
rs2307445
|
0.00006
|
NM_003001.5(SDHC):c.179+10G>A
|
rs532455044
|
0.00006
|
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
NM_003072.5(SMARCA4):c.3383-5G>A
|
rs762528243
|
0.00006
|
NM_003072.5(SMARCA4):c.761-5T>C
|
rs543702763
|
0.00006
|
NM_003334.4(UBA1):c.351C>T (p.Tyr117=)
|
rs782799228
|
0.00006
|
NM_003719.5(PDE8B):c.2130G>A (p.Arg710=)
|
rs186052720
|
0.00006
|
NM_003900.5(SQSTM1):c.378G>A (p.Val126=)
|
rs774780830
|
0.00006
|
NM_003924.4(PHOX2B):c.*550G>A
|
rs577950819
|
0.00006
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00006
|
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)
|
rs375462934
|
0.00006
|
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=)
|
rs539366777
|
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_004519.4(KCNQ3):c.*7130C>T
|
rs546278208
|
0.00006
|
NM_004722.4(AP4M1):c.1050A>G (p.Pro350=)
|
rs139116680
|
0.00006
|
NM_004738.5(VAPB):c.*4923A>G
|
rs776329339
|
0.00006
|
NM_004738.5(VAPB):c.574-5C>T
|
rs200211497
|
0.00006
|
NM_004960.4(FUS):c.66G>A (p.Gly22=)
|
rs147877613
|
0.00006
|
NM_004960.4(FUS):c.833-17C>T
|
rs376953672
|
0.00006
|
NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val)
|
rs370974891
|
0.00006
|
NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu)
|
rs777053418
|
0.00006
|
NM_004975.4(KCNB1):c.2521G>A (p.Val841Ile)
|
rs542708318
|
0.00006
|
NM_004975.4(KCNB1):c.546C>T (p.Pro182=)
|
rs373223027
|
0.00006
|
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter)
|
rs139326865
|
0.00006
|
NM_005045.4(RELN):c.4937-18del
|
rs757860282
|
0.00006
|
NM_005051.3(QARS1):c.2152-11C>G
|
rs373696203
|
0.00006
|
NM_005120.3(MED12):c.5205C>T (p.Arg1735=)
|
rs747836622
|
0.00006
|
NM_005120.3(MED12):c.568A>G (p.Ile190Val)
|
rs374780236
|
0.00006
|
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)
|
rs372606012
|
0.00006
|
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser)
|
rs796052455
|
0.00006
|
NM_005334.3(HCFC1):c.1803+13C>T
|
rs368179780
|
0.00006
|
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=)
|
rs782207714
|
0.00006
|
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=)
|
rs372071273
|
0.00006
|
NM_005591.4(MRE11):c.81G>A (p.Glu27=)
|
rs190031653
|
0.00006
|
NM_005629.4(SLC6A8):c.1113C>T (p.Gly371=)
|
rs1411836045
|
0.00006
|
NM_005629.4(SLC6A8):c.1254+6C>T
|
rs782764159
|
0.00006
|
NM_005629.4(SLC6A8):c.1496-17G>A
|
rs375265267
|
0.00006
|
NM_005629.4(SLC6A8):c.831G>A (p.Val277=)
|
rs149357346
|
0.00006
|
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro)
|
rs367889013
|
0.00006
|
NM_006030.4(CACNA2D2):c.1674G>A (p.Val558=)
|
rs201381985
|
0.00006
|
NM_006030.4(CACNA2D2):c.2401+13G>A
|
rs762669835
|
0.00006
|
NM_006087.4(TUBB4A):c.435C>T (p.Ser145=)
|
rs200757174
|
0.00006
|
NM_006267.5(RANBP2):c.1644A>G (p.Val548=)
|
rs1057955
|
0.00006
|
NM_006516.4(SLC2A1):c.19-12G>A
|
rs372344816
|
0.00006
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
NM_006772.3(SYNGAP1):c.1532-5C>G
|
rs928381854
|
0.00006
|
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser)
|
rs775566992
|
0.00006
|
NM_006772.3(SYNGAP1):c.3583-7C>T
|
rs748161838
|
0.00006
|
NM_007254.4(PNKP):c.1387-11G>A
|
rs200785744
|
0.00006
|
NM_007327.4(GRIN1):c.1198-7C>T
|
rs202163066
|
0.00006
|
NM_007327.4(GRIN1):c.2333+9C>A
|
rs201316377
|
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_012281.3(KCND2):c.1116-18A>T
|
rs368667977
|
0.00006
|
NM_013275.6(ANKRD11):c.-18C>T
|
rs373447058
|
0.00006
|
NM_013275.6(ANKRD11):c.192G>A (p.Ala64=)
|
rs200665093
|
0.00006
|
NM_013275.6(ANKRD11):c.477T>C (p.Asp159=)
|
rs201813034
|
0.00006
|
NM_013275.6(ANKRD11):c.5586C>T (p.Val1862=)
|
rs772818159
|
0.00006
|
NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=)
|
rs777536426
|
0.00006
|
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=)
|
rs748193306
|
0.00006
|
NM_014795.4(ZEB2):c.1221C>T (p.His407=)
|
rs144613207
|
0.00006
|
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=)
|
rs201567433
|
0.00006
|
NM_014844.5(TECPR2):c.3477G>A (p.Arg1159=)
|
rs2295975
|
0.00006
|
NM_014844.5(TECPR2):c.3999C>T (p.Leu1333=)
|
rs556751486
|
0.00006
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
0.00006
|
NM_014855.3(AP5Z1):c.1454+13C>T
|
rs763660409
|
0.00006
|
NM_014855.3(AP5Z1):c.351C>T (p.Ser117=)
|
rs374912181
|
0.00006
|
NM_015046.7(SETX):c.1227A>G (p.Leu409=)
|
rs769913556
|
0.00006
|
NM_015046.7(SETX):c.1690T>G (p.Leu564Val)
|
rs761877146
|
0.00006
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
NM_015046.7(SETX):c.4136A>G (p.His1379Arg)
|
rs181158146
|
0.00006
|
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
|
rs750372437
|
0.00006
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00006
|
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)
|
rs761180215
|
0.00006
|
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)
|
rs200382898
|
0.00006
|
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val)
|
rs376524608
|
0.00006
|
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr)
|
rs202121071
|
0.00006
|
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)
|
rs368269464
|
0.00006
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00006
|
NM_015046.7(SETX):c.93A>G (p.Gln31=)
|
rs201795631
|
0.00006
|
NM_015161.3(ARL6IP1):c.199C>T (p.Leu67=)
|
rs763110010
|
0.00006
|
NM_015214.3(DDHD2):c.1587G>A (p.Thr529=)
|
rs141814412
|
0.00006
|
NM_015915.5(ATL1):c.1635A>G (p.Pro545=)
|
rs191729308
|
0.00006
|
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)
|
rs369907002
|
0.00006
|
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly)
|
rs764588235
|
0.00006
|
NM_018026.4(PACS1):c.1233C>T (p.Ser411=)
|
rs201671985
|
0.00006
|
NM_018026.4(PACS1):c.2514C>T (p.Gly838=)
|
rs199684328
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_018206.6(VPS35):c.1420C>G (p.Gln474Glu)
|
rs370401767
|
0.00006
|
NM_018713.3(SLC30A10):c.516C>G (p.Gly172=)
|
rs539271108
|
0.00006
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_018723.4(RBFOX1):c.1032C>T (p.His344=)
|
rs534312610
|
0.00006
|
NM_018723.4(RBFOX1):c.996-19A>C
|
rs200846246
|
0.00006
|
NM_018834.6(MATR3):c.*406A>G
|
rs185734839
|
0.00006
|
NM_020708.5(SLC12A5):c.1956G>A (p.Ala652=)
|
rs190924143
|
0.00006
|
NM_020822.3(KCNT1):c.1200+15C>T
|
rs138631641
|
0.00006
|
NM_020822.3(KCNT1):c.1201-6C>T
|
rs543464639
|
0.00006
|
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=)
|
rs537431085
|
0.00006
|
NM_021098.3(CACNA1H):c.1453C>T (p.Arg485Cys)
|
rs765665281
|
0.00006
|
NM_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg)
|
rs776058661
|
0.00006
|
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser)
|
rs147702970
|
0.00006
|
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys)
|
rs371167728
|
0.00006
|
NM_021098.3(CACNA1H):c.240C>T (p.Phe80=)
|
rs772150091
|
0.00006
|
NM_021098.3(CACNA1H):c.3060G>A (p.Ala1020=)
|
rs369924266
|
0.00006
|
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro)
|
rs377549389
|
0.00006
|
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)
|
rs538758039
|
0.00006
|
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys)
|
rs753993842
|
0.00006
|
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val)
|
rs769568324
|
0.00006
|
NM_021098.3(CACNA1H):c.3573C>T (p.Thr1191=)
|
rs555890424
|
0.00006
|
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln)
|
rs759668583
|
0.00006
|
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr)
|
rs374297889
|
0.00006
|
NM_021098.3(CACNA1H):c.5208C>T (p.Arg1736=)
|
rs112395878
|
0.00006
|
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile)
|
rs374558503
|
0.00006
|
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu)
|
rs749054531
|
0.00006
|
NM_021098.3(CACNA1H):c.6001C>T (p.Arg2001Trp)
|
rs763114755
|
0.00006
|
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)
|
rs554063452
|
0.00006
|
NM_021098.3(CACNA1H):c.6429C>T (p.Phe2143=)
|
rs565607103
|
0.00006
|
NM_021098.3(CACNA1H):c.936C>T (p.Arg312=)
|
rs780299000
|
0.00006
|
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys)
|
rs367584657
|
0.00006
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
NM_021728.4(OTX2):c.*966A>G
|
rs57390094
|
0.00006
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
NM_022089.4(ATP13A2):c.2529+9G>A
|
rs200809857
|
0.00006
|
NM_022168.4(IFIH1):c.2115A>C (p.Arg705Ser)
|
rs185928139
|
0.00006
|
NM_022168.4(IFIH1):c.769+17C>T
|
rs74162076
|
0.00006
|
NM_024411.5(PDYN):c.*1457C>G
|
rs529380614
|
0.00006
|
NM_024411.5(PDYN):c.*225T>C
|
rs569014510
|
0.00006
|
NM_025136.4(OPA3):c.*5277G>A
|
rs535986790
|
0.00006
|
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys)
|
rs3759875
|
0.00006
|
NM_025137.4(SPG11):c.789A>G (p.Lys263=)
|
rs764439012
|
0.00006
|
NM_025219.3(DNAJC5):c.*1079T>C
|
rs370539010
|
0.00006
|
NM_025219.3(DNAJC5):c.*2563A>C
|
rs188604040
|
0.00006
|
NM_025243.4(SLC19A3):c.522C>A (p.Val174=)
|
rs766224051
|
0.00006
|
NM_031448.6(C19orf12):c.216G>A (p.Pro72=)
|
rs202054484
|
0.00006
|
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp)
|
rs373039242
|
0.00006
|
NM_032737.4(LMNB2):c.1483-12C>T
|
rs761892602
|
0.00006
|
NM_032776.3(JMJD1C):c.4359A>G (p.Thr1453=)
|
rs548304608
|
0.00006
|
NM_032776.3(JMJD1C):c.5276+15G>T
|
rs375419932
|
0.00006
|
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr)
|
rs145433128
|
0.00006
|
NM_130837.3(OPA1):c.678+13G>C
|
rs561115644
|
0.00006
|
NM_144599.5(NIPA1):c.*1146T>C
|
rs181621508
|
0.00006
|
NM_144599.5(NIPA1):c.537C>T (p.Ile179=)
|
rs547634456
|
0.00006
|
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)
|
rs141412861
|
0.00006
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=)
|
rs376062743
|
0.00006
|
NM_152743.4(BRAT1):c.1740C>T (p.Pro580=)
|
rs200084998
|
0.00006
|
NM_152743.4(BRAT1):c.2250C>T (p.Ala750=)
|
rs543555790
|
0.00006
|
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His)
|
rs149255570
|
0.00006
|
NM_153252.5(BRWD3):c.*5741G>T
|
rs139358289
|
0.00006
|
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=)
|
rs770187706
|
0.00006
|
NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr)
|
rs753288564
|
0.00006
|
NM_173354.5(SIK1):c.854C>T (p.Pro285Leu)
|
rs567695572
|
0.00006
|
NM_173354.5(SIK1):c.855G>A (p.Pro285=)
|
rs549052367
|
0.00006
|
NM_173354.5(SIK1):c.924G>A (p.Ala308=)
|
rs199738681
|
0.00006
|
NM_173728.4(ARHGEF15):c.2298G>A (p.Ser766=)
|
rs116448253
|
0.00006
|
NM_198904.4(GABRG2):c.409T>C (p.Leu137=)
|
rs200828542
|
0.00006
|
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)
|
rs367799134
|
0.00005
|
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)
|
rs965462099
|
0.00005
|
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
|
rs372232940
|
0.00005
|
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=)
|
rs781928652
|
0.00005
|
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)
|
rs782154912
|
0.00005
|
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu)
|
rs782143115
|
0.00005
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
|
rs188836609
|
0.00005
|
NM_000061.3(BTK):c.1103-11C>G
|
rs782217532
|
0.00005
|
NM_000061.3(BTK):c.1750+10T>C
|
rs374131821
|
0.00005
|
NM_000146.4(FTL):c.*8C>T
|
rs373178636
|
0.00005
|
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala)
|
rs201890453
|
0.00005
|
NM_000170.3(GLDC):c.250C>T (p.Leu84=)
|
rs746606221
|
0.00005
|
NM_000284.4(PDHA1):c.1009-9A>C
|
rs372177460
|
0.00005
|
NM_000284.4(PDHA1):c.693G>A (p.Thr231=)
|
rs138237215
|
0.00005
|
NM_000284.4(PDHA1):c.759+10C>G
|
rs375488072
|
0.00005
|
NM_000330.4(RS1):c.7C>G (p.Arg3Gly)
|
rs571944937
|
0.00005
|
NM_000368.5(TSC1):c.231C>T (p.Asn77=)
|
rs397514809
|
0.00005
|
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)
|
rs184492796
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr)
|
rs766116884
|
0.00005
|
NM_000489.6(ATRX):c.118A>G (p.Met40Val)
|
rs149990714
|
0.00005
|
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu)
|
rs782529714
|
0.00005
|
NM_000489.6(ATRX):c.2697G>A (p.Thr899=)
|
rs137974888
|
0.00005
|
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)
|
rs587778087
|
0.00005
|
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val)
|
rs782257568
|
0.00005
|
NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala)
|
rs781836912
|
0.00005
|
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=)
|
rs369658928
|
0.00005
|
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=)
|
rs781829081
|
0.00005
|
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=)
|
rs782097254
|
0.00005
|
NM_000489.6(ATRX):c.5957-9C>G
|
rs375791318
|
0.00005
|
NM_000489.6(ATRX):c.6018T>A (p.Val2006=)
|
rs781802180
|
0.00005
|
NM_000489.6(ATRX):c.6110+15A>G
|
rs1309299805
|
0.00005
|
NM_000489.6(ATRX):c.6873A>G (p.Ile2291Met)
|
rs192057045
|
0.00005
|
NM_000702.4(ATP1A2):c.1287C>T (p.Ala429=)
|
rs762571297
|
0.00005
|
NM_000702.4(ATP1A2):c.2116-8C>G
|
rs367577421
|
0.00005
|
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp)
|
rs376970816
|
0.00005
|
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=)
|
rs200259564
|
0.00005
|
NM_000748.3(CHRNB2):c.1339-16C>T
|
rs117167810
|
0.00005
|
NM_000834.5(GRIN2B):c.3473G>A (p.Arg1158Gln)
|
rs143955920
|
0.00005
|
NM_000834.5(GRIN2B):c.412-20T>C
|
rs779719544
|
0.00005
|
NM_001003800.2(BICD2):c.1481A>G (p.Gln494Arg)
|
rs142985475
|
0.00005
|
NM_001003800.2(BICD2):c.1501C>T (p.Arg501Trp)
|
rs373224610
|
0.00005
|
NM_001032221.6(STXBP1):c.246+15A>G
|
rs369881520
|
0.00005
|
NM_001032221.6(STXBP1):c.579G>A (p.Gly193=)
|
rs771910659
|
0.00005
|
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=)
|
rs139730174
|
0.00005
|
NM_001077350.3(NPRL3):c.629+16G>C
|
rs148320642
|
0.00005
|
NM_001081550.2(THOC2):c.2481+42A>G
|
rs780461608
|
0.00005
|
NM_001099922.3(ALG13):c.108A>G (p.Arg36=)
|
rs769838471
|
0.00005
|
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=)
|
rs759719376
|
0.00005
|
NM_001099922.3(ALG13):c.857A>G (p.Lys286Arg)
|
rs765500818
|
0.00005
|
NM_001099922.3(ALG13):c.978T>C (p.Tyr326=)
|
rs375739139
|
0.00005
|
NM_001110556.2(FLNA):c.1806C>T (p.Ile602=)
|
rs782543203
|
0.00005
|
NM_001110556.2(FLNA):c.1807G>A (p.Gly603Arg)
|
rs200116438
|
0.00005
|
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu)
|
rs782193139
|
0.00005
|
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=)
|
rs377579695
|
0.00005
|
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=)
|
rs370476531
|
0.00005
|
NM_001110556.2(FLNA):c.4893G>A (p.Pro1631=)
|
rs1984380
|
0.00005
|
NM_001110556.2(FLNA):c.543G>A (p.Pro181=)
|
rs201486643
|
0.00005
|
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=)
|
rs782745205
|
0.00005
|
NM_001110556.2(FLNA):c.6964G>A (p.Val2322Met)
|
rs782084497
|
0.00005
|
NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn)
|
rs371689052
|
0.00005
|
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn)
|
rs782739586
|
0.00005
|
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu)
|
rs371830740
|
0.00005
|
NM_001110792.2(MECP2):c.107A>G (p.Lys36Arg)
|
rs782344115
|
0.00005
|
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu)
|
rs61753006
|
0.00005
|
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu)
|
rs62915962
|
0.00005
|
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu)
|
rs376324027
|
0.00005
|
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=)
|
rs146632223
|
0.00005
|
NM_001110792.2(MECP2):c.510G>A (p.Thr170=)
|
rs61748413
|
0.00005
|
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg)
|
rs61749701
|
0.00005
|
NM_001110792.2(MECP2):c.696C>T (p.Leu232=)
|
rs267608512
|
0.00005
|
NM_001111.5(ADAR):c.1934+12G>A
|
rs776357782
|
0.00005
|
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=)
|
rs200629644
|
0.00005
|
NM_001111125.3(IQSEC2):c.1496G>T (p.Arg499Leu)
|
rs782243346
|
0.00005
|
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln)
|
rs782420335
|
0.00005
|
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=)
|
rs782132072
|
0.00005
|
NM_001111125.3(IQSEC2):c.3115+11T>G
|
rs782704136
|
0.00005
|
NM_001111125.3(IQSEC2):c.569C>T (p.Ala190Val)
|
rs1003745171
|
0.00005
|
NM_001127222.2(CACNA1A):c.4591-9C>G
|
rs16032
|
0.00005
|
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met)
|
rs368183370
|
0.00005
|
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=)
|
rs551045474
|
0.00005
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
NM_001130438.3(SPTAN1):c.4188G>A (p.Gln1396=)
|
rs763156575
|
0.00005
|
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr)
|
rs145551982
|
0.00005
|
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=)
|
rs201348505
|
0.00005
|
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)
|
rs544843583
|
0.00005
|
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg)
|
rs776064912
|
0.00005
|
NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=)
|
rs370444117
|
0.00005
|
NM_001130823.3(DNMT1):c.2019+19G>A
|
rs531721071
|
0.00005
|
NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=)
|
rs534263445
|
0.00005
|
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser)
|
rs531782747
|
0.00005
|
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=)
|
rs774858072
|
0.00005
|
NM_001165963.4(SCN1A):c.69G>A (p.Ala23=)
|
rs780729477
|
0.00005
|
NM_001166114.2(PNPLA6):c.976C>T (p.Leu326=)
|
rs559393431
|
0.00005
|
NM_001172509.2(SATB2):c.1173+4C>A
|
rs376920785
|
0.00005
|
NM_001172509.2(SATB2):c.1828A>G (p.Ser610Gly)
|
rs1048433974
|
0.00005
|
NM_001172509.2(SATB2):c.1843C>T (p.Pro615Ser)
|
rs1394335364
|
0.00005
|
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=)
|
rs368963363
|
0.00005
|
NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu)
|
rs779578515
|
0.00005
|
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)
|
rs199574770
|
0.00005
|
NM_001244008.2(KIF1A):c.5150G>A (p.Arg1717Gln)
|
rs760970824
|
0.00005
|
NM_001288705.3(CSF1R):c.1216G>A (p.Val406Ile)
|
rs377213618
|
0.00005
|
NM_001288705.3(CSF1R):c.224C>T (p.Thr75Ile)
|
rs748096324
|
0.00005
|
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)
|
rs748459878
|
0.00005
|
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=)
|
rs727503846
|
0.00005
|
NM_001323289.2(CDKL5):c.283-14T>C
|
rs776132140
|
0.00005
|
NM_001323289.2(CDKL5):c.64+19G>A
|
rs776988929
|
0.00005
|
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg)
|
rs756537286
|
0.00005
|
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=)
|
rs199982600
|
0.00005
|
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val)
|
rs781988728
|
0.00005
|
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser)
|
rs781870482
|
0.00005
|
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=)
|
rs781930227
|
0.00005
|
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=)
|
rs369716500
|
0.00005
|
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu)
|
rs200671761
|
0.00005
|
NM_001371279.1(REEP1):c.582C>T (p.Ser194=)
|
rs540194528
|
0.00005
|
NM_001371727.1(GABRB2):c.1222A>C (p.Thr408Pro)
|
rs200591388
|
0.00005
|
NM_001371727.1(GABRB2):c.1358G>A (p.Arg453Gln)
|
rs371728438
|
0.00005
|
NM_001371928.1(AHDC1):c.1146C>T (p.Tyr382=)
|
rs200228240
|
0.00005
|
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)
|
rs775411387
|
0.00005
|
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His)
|
rs200151142
|
0.00005
|
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)
|
rs199530726
|
0.00005
|
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=)
|
rs190703406
|
0.00005
|
NM_001429.4(EP300):c.4503G>A (p.Leu1501=)
|
rs368320273
|
0.00005
|
NM_001540.5(HSPB1):c.-4C>T
|
rs372833436
|
0.00005
|
NM_001846.4(COL4A2):c.*371A>G
|
rs576821082
|
0.00005
|
NM_001846.4(COL4A2):c.395C>T (p.Pro132Leu)
|
rs199561972
|
0.00005
|
NM_001958.5(EEF1A2):c.675C>T (p.Gly225=)
|
rs749250921
|
0.00005
|
NM_002156.5(HSPD1):c.1446T>C (p.Asn482=)
|
rs2303884
|
0.00005
|
NM_002578.5(PAK3):c.-15T>C
|
rs758607736
|
0.00005
|
NM_002578.5(PAK3):c.9C>T (p.Asp3=)
|
rs745645606
|
0.00005
|
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=)
|
rs371550567
|
0.00005
|
NM_002641.4(PIGA):c.96C>G (p.Thr32=)
|
rs750555194
|
0.00005
|
NM_002693.3(POLG):c.150G>A (p.Gln50=)
|
rs766501874
|
0.00005
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
NM_003042.4(SLC6A1):c.1213A>G (p.Ile405Val)
|
rs759515813
|
0.00005
|
NM_003072.5(SMARCA4):c.1803G>A (p.Pro601=)
|
rs751166438
|
0.00005
|
NM_003079.5(SMARCE1):c.954C>T (p.Ile318=)
|
rs376628666
|
0.00005
|
NM_003079.5(SMARCE1):c.963G>A (p.Glu321=)
|
rs753203502
|
0.00005
|
NM_003334.4(UBA1):c.1197C>T (p.Ala399=)
|
rs782593880
|
0.00005
|
NM_003334.4(UBA1):c.1543C>A (p.Arg515=)
|
rs150198324
|
0.00005
|
NM_003334.4(UBA1):c.1791G>A (p.Glu597=)
|
rs372366129
|
0.00005
|
NM_003334.4(UBA1):c.2839-7C>T
|
rs199797125
|
0.00005
|
NM_003334.4(UBA1):c.678+18A>T
|
rs782509809
|
0.00005
|
NM_003334.4(UBA1):c.798G>A (p.Glu266=)
|
rs202041421
|
0.00005
|
NM_003560.4(PLA2G6):c.2355C>T (p.Thr785=)
|
rs146591896
|
0.00005
|
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp)
|
rs557931141
|
0.00005
|
NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu)
|
rs75862065
|
0.00005
|
NM_003900.5(SQSTM1):c.1165+9A>G
|
rs138885571
|
0.00005
|
NM_004082.5(DCTN1):c.60G>A (p.Ala20=)
|
rs150204862
|
0.00005
|
NM_004380.3(CREBBP):c.177T>A (p.Leu59=)
|
rs201027381
|
0.00005
|
NM_004380.3(CREBBP):c.3060+10G>A
|
rs398124143
|
0.00005
|
NM_004380.3(CREBBP):c.414C>T (p.Ala138=)
|
rs542552676
|
0.00005
|
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=)
|
rs374150949
|
0.00005
|
NM_004385.5(VCAN):c.*672A>G
|
rs532790573
|
0.00005
|
NM_004385.5(VCAN):c.*89A>G
|
rs369600306
|
0.00005
|
NM_004408.4(DNM1):c.1422+6C>T
|
rs773817727
|
0.00005
|
NM_004519.4(KCNQ3):c.*7504C>G
|
rs532052931
|
0.00005
|
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=)
|
rs142680221
|
0.00005
|
NM_004586.3(RPS6KA3):c.1246A>G (p.Ile416Val)
|
rs148050184
|
0.00005
|
NM_004975.4(KCNB1):c.1705G>A (p.Val569Ile)
|
rs376490656
|
0.00005
|
NM_004975.4(KCNB1):c.2249C>T (p.Ala750Val)
|
rs750157634
|
0.00005
|
NM_004975.4(KCNB1):c.2250G>A (p.Ala750=)
|
rs368736609
|
0.00005
|
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr)
|
rs1041937206
|
0.00005
|
NM_005045.4(RELN):c.1795C>T (p.Arg599Cys)
|
rs369272208
|
0.00005
|
NM_005120.3(MED12):c.2685+17G>T
|
rs767584131
|
0.00005
|
NM_005120.3(MED12):c.4880G>A (p.Arg1627His)
|
rs759857680
|
0.00005
|
NM_005120.3(MED12):c.5109C>T (p.Gly1703=)
|
rs781134410
|
0.00005
|
NM_005120.3(MED12):c.5490A>C (p.Thr1830=)
|
rs762466624
|
0.00005
|
NM_005120.3(MED12):c.6003G>A (p.Gln2001=)
|
rs1226474526
|
0.00005
|
NM_005120.3(MED12):c.6072A>T (p.Thr2024=)
|
rs200692655
|
0.00005
|
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val)
|
rs748668603
|
0.00005
|
NM_005120.3(MED12):c.906A>G (p.Thr302=)
|
rs1458066906
|
0.00005
|
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=)
|
rs200268397
|
0.00005
|
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=)
|
rs201117046
|
0.00005
|
NM_005334.3(HCFC1):c.1606-13G>A
|
rs782300809
|
0.00005
|
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=)
|
rs371233332
|
0.00005
|
NM_005334.3(HCFC1):c.1804-18C>T
|
rs1057522797
|
0.00005
|
NM_005334.3(HCFC1):c.2134-20C>A
|
rs368718262
|
0.00005
|
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)
|
rs782045987
|
0.00005
|
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met)
|
rs782413424
|
0.00005
|
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=)
|
rs781804858
|
0.00005
|
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)
|
rs782354655
|
0.00005
|
NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=)
|
rs782066930
|
0.00005
|
NM_005629.4(SLC6A8):c.1506C>T (p.Arg502=)
|
rs782374700
|
0.00005
|
NM_005629.4(SLC6A8):c.1597-5C>T
|
rs376073223
|
0.00005
|
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr)
|
rs782790088
|
0.00005
|
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=)
|
rs782244505
|
0.00005
|
NM_005629.4(SLC6A8):c.1767+19C>G
|
rs782515219
|
0.00005
|
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=)
|
rs782808736
|
0.00005
|
NM_005629.4(SLC6A8):c.395-4C>T
|
rs782654694
|
0.00005
|
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=)
|
rs201260657
|
0.00005
|
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met)
|
rs782208622
|
0.00005
|
NM_005629.4(SLC6A8):c.913-14C>T
|
rs368054317
|
0.00005
|
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=)
|
rs138952430
|
0.00005
|
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser)
|
rs187631645
|
0.00005
|
NM_006030.4(CACNA2D2):c.1620C>T (p.Asn540=)
|
rs200816734
|
0.00005
|
NM_006267.5(RANBP2):c.2202+14T>G
|
rs202098901
|
0.00005
|
NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=)
|
rs749275095
|
0.00005
|
NM_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
0.00005
|
NM_006612.6(KIF1C):c.714G>A (p.Ser238=)
|
rs368886383
|
0.00005
|
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe)
|
rs753575634
|
0.00005
|
NM_007254.4(PNKP):c.861G>C (p.Val287=)
|
rs75203375
|
0.00005
|
NM_007327.4(GRIN1):c.570+13G>A
|
rs200081727
|
0.00005
|
NM_012193.4(FZD4):c.*799A>G
|
rs573013571
|
0.00005
|
NM_012281.3(KCND2):c.1279-4A>G
|
rs530629463
|
0.00005
|
NM_013275.6(ANKRD11):c.6760G>A (p.Gly2254Arg)
|
rs1003478010
|
0.00005
|
NM_013275.6(ANKRD11):c.824A>G (p.Asn275Ser)
|
rs138723232
|
0.00005
|
NM_013275.6(ANKRD11):c.868A>G (p.Thr290Ala)
|
rs776494318
|
0.00005
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val)
|
rs772368310
|
0.00005
|
NM_014053.4(FLVCR1):c.*3264T>C
|
rs374214375
|
0.00005
|
NM_014271.4(IL1RAPL1):c.-25+14A>C
|
rs146138116
|
0.00005
|
NM_014795.4(ZEB2):c.375G>A (p.Thr125=)
|
rs138389836
|
0.00005
|
NM_014844.5(TECPR2):c.1180A>C (p.Arg394=)
|
rs549744502
|
0.00005
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00005
|
NM_015046.7(SETX):c.2862G>A (p.Thr954=)
|
rs149610510
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile)
|
rs61745659
|
0.00005
|
NM_015046.7(SETX):c.718+14C>A
|
rs762900574
|
0.00005
|
NM_015046.7(SETX):c.991A>G (p.Ile331Val)
|
rs572884359
|
0.00005
|
NM_015338.6(ASXL1):c.2802T>C (p.Ala934=)
|
rs571165637
|
0.00005
|
NM_016169.4(SUFU):c.183-4G>A
|
rs766044613
|
0.00005
|
NM_018026.4(PACS1):c.1626+20A>G
|
rs200284391
|
0.00005
|
NM_018026.4(PACS1):c.2250+12C>T
|
rs760895616
|
0.00005
|
NM_018026.4(PACS1):c.563A>G (p.Asn188Ser)
|
rs200950761
|
0.00005
|
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His)
|
rs368339692
|
0.00005
|
NM_020822.3(KCNT1):c.3502+17C>T
|
rs767500906
|
0.00005
|
NM_020822.3(KCNT1):c.676-4A>G
|
rs780921786
|
0.00005
|
NM_020919.4(ALS2):c.300C>T (p.Ser100=)
|
rs41308808
|
0.00005
|
NM_021072.4(HCN1):c.68C>T (p.Ala23Val)
|
rs1060500096
|
0.00005
|
NM_021098.3(CACNA1H):c.1441C>T (p.Arg481Cys)
|
rs577233623
|
0.00005
|
NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His)
|
rs994418105
|
0.00005
|
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)
|
rs199920661
|
0.00005
|
NM_021098.3(CACNA1H):c.238T>G (p.Phe80Val)
|
rs1372002770
|
0.00005
|
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg)
|
rs752799249
|
0.00005
|
NM_021098.3(CACNA1H):c.3135C>G (p.Leu1045=)
|
rs560635024
|
0.00005
|
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His)
|
rs373762102
|
0.00005
|
NM_021098.3(CACNA1H):c.3861C>T (p.Cys1287=)
|
rs377055233
|
0.00005
|
NM_021098.3(CACNA1H):c.5823G>A (p.Ser1941=)
|
rs377279064
|
0.00005
|
NM_021098.3(CACNA1H):c.6014G>A (p.Arg2005His)
|
rs368553931
|
0.00005
|
NM_021098.3(CACNA1H):c.6532G>A (p.Ala2178Thr)
|
rs771909122
|
0.00005
|
NM_021098.3(CACNA1H):c.6578C>T (p.Ser2193Leu)
|
rs748432349
|
0.00005
|
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs)
|
rs766039450
|
0.00005
|
NM_022168.4(IFIH1):c.1866G>A (p.Ala622=)
|
rs766027130
|
0.00005
|
NM_022168.4(IFIH1):c.1899G>T (p.Glu633Asp)
|
rs550930413
|
0.00005
|
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter)
|
rs747926684
|
0.00005
|
NM_024570.4(RNASEH2B):c.137-19G>C
|
rs201814710
|
0.00005
|
NM_025136.4(OPA3):c.*7018G>C
|
rs557041940
|
0.00005
|
NM_025219.3(DNAJC5):c.*1643T>C
|
rs142546412
|
0.00005
|
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)
|
rs142211875
|
0.00005
|
NM_031206.7(LAS1L):c.1269C>T (p.Thr423=)
|
rs188766357
|
0.00005
|
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala)
|
rs199740131
|
0.00005
|
NM_033305.3(VPS13A):c.2964+5G>A
|
rs139516538
|
0.00005
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
NM_139058.3(ARX):c.223T>G (p.Phe75Val)
|
rs999545482
|
0.00005
|
NM_145725.3(TRAF3):c.1485A>G (p.Thr495=)
|
rs199868254
|
0.00005
|
NM_145725.3(TRAF3):c.727-5C>T
|
rs767004037
|
0.00005
|
NM_152296.5(ATP1A3):c.786C>T (p.Thr262=)
|
rs74581050
|
0.00005
|
NM_152296.5(ATP1A3):c.994-4C>G
|
rs373698149
|
0.00005
|
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met)
|
rs570139975
|
0.00005
|
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=)
|
rs374376301
|
0.00005
|
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met)
|
rs148204741
|
0.00005
|
NM_198994.3(TGM6):c.883G>A (p.Val295Met)
|
rs200341133
|
0.00005
|
NM_203446.3(SYNJ1):c.*690G>A
|
rs559102258
|
0.00005
|
NM_000033.4(ABCD1):c.600C>T (p.Asp200=)
|
rs782724538
|
0.00004
|
NM_000044.6(AR):c.1063G>C (p.Glu355Gln)
|
rs367604031
|
0.00004
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp)
|
rs188175511
|
0.00004
|
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=)
|
rs369055537
|
0.00004
|
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=)
|
rs782587854
|
0.00004
|
NM_000052.7(ATP7A):c.765A>G (p.Leu255=)
|
rs781957871
|
0.00004
|
NM_000061.3(BTK):c.1276G>A (p.Asp426Asn)
|
rs782813365
|
0.00004
|
NM_000096.4(CP):c.2662-14T>C
|
rs189155564
|
0.00004
|
NM_000284.4(PDHA1):c.291+12G>A
|
rs755244308
|
0.00004
|
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)
|
rs560471003
|
0.00004
|
NM_000310.4(PPT1):c.627+16G>A
|
rs745468692
|
0.00004
|
NM_000330.4(RS1):c.326+1131G>A
|
rs267608664
|
0.00004
|
NM_000368.5(TSC1):c.*1508A>G
|
rs552190342
|
0.00004
|
NM_000475.5(NR0B1):c.993C>T (p.Asn331=)
|
rs767263700
|
0.00004
|
NM_000489.6(ATRX):c.1041T>G (p.Ile347Met)
|
rs199780997
|
0.00004
|
NM_000489.6(ATRX):c.1047C>G (p.Pro349=)
|
rs200288042
|
0.00004
|
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)
|
rs587780284
|
0.00004
|
NM_000489.6(ATRX):c.1448A>C (p.Gln483Pro)
|
rs781820428
|
0.00004
|
NM_000489.6(ATRX):c.1679C>G (p.Ser560Cys)
|
rs782446684
|
0.00004
|
NM_000489.6(ATRX):c.2114A>G (p.Asp705Gly)
|
rs781804632
|
0.00004
|
NM_000489.6(ATRX):c.2117G>C (p.Ser706Thr)
|
rs782171296
|
0.00004
|
NM_000489.6(ATRX):c.2224A>G (p.Ser742Gly)
|
rs368980616
|
0.00004
|
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln)
|
rs782181535
|
0.00004
|
NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg)
|
rs782593341
|
0.00004
|
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)
|
rs782123222
|
0.00004
|
NM_000489.6(ATRX):c.2764G>A (p.Asp922Asn)
|
rs373581602
|
0.00004
|
NM_000489.6(ATRX):c.2869G>C (p.Val957Leu)
|
rs1557138704
|
0.00004
|
NM_000489.6(ATRX):c.2922C>T (p.Ser974=)
|
rs1476227727
|
0.00004
|
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)
|
rs782781078
|
0.00004
|
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=)
|
rs782472957
|
0.00004
|
NM_000489.6(ATRX):c.3737-6C>T
|
rs373071937
|
0.00004
|
NM_000489.6(ATRX):c.4134T>G (p.Asp1378Glu)
|
rs782302000
|
0.00004
|
NM_000489.6(ATRX):c.4214+17T>C
|
rs782525895
|
0.00004
|
NM_000489.6(ATRX):c.4557+15T>C
|
rs782672265
|
0.00004
|
NM_000489.6(ATRX):c.5272+16T>C
|
rs377679337
|
0.00004
|
NM_000489.6(ATRX):c.5448+20T>G
|
rs782183661
|
0.00004
|
NM_000489.6(ATRX):c.5567-18C>T
|
rs782747817
|
0.00004
|
NM_000489.6(ATRX):c.5956+16G>A
|
rs782016890
|
0.00004
|
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=)
|
rs782527659
|
0.00004
|
NM_000521.4(HEXB):c.1243-6T>C
|
rs759404927
|
0.00004
|
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=)
|
rs758374702
|
0.00004
|
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=)
|
rs759939624
|
0.00004
|
NM_000702.4(ATP1A2):c.2440-10C>T
|
rs200145599
|
0.00004
|
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=)
|
rs28716941
|
0.00004
|
NM_000744.7(CHRNA4):c.383+7C>T
|
rs200690355
|
0.00004
|
NM_000744.7(CHRNA4):c.828G>A (p.Thr276=)
|
rs2234932
|
0.00004
|
NM_000748.3(CHRNB2):c.372C>T (p.Asp124=)
|
rs151054217
|
0.00004
|
NM_000834.5(GRIN2B):c.2648T>C (p.Val883Ala)
|
rs770464893
|
0.00004
|
NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln)
|
rs201966022
|
0.00004
|
NM_000834.5(GRIN2B):c.3993G>A (p.Met1331Ile)
|
rs200035225
|
0.00004
|
NM_000834.5(GRIN2B):c.4041C>A (p.Ser1347Arg)
|
rs769147604
|
0.00004
|
NM_001003800.2(BICD2):c.1421A>G (p.Tyr474Cys)
|
rs1014182946
|
0.00004
|
NM_001003800.2(BICD2):c.2469C>T (p.Ser823=)
|
rs199989045
|
0.00004
|
NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg)
|
rs756910200
|
0.00004
|
NM_001003800.2(BICD2):c.2541C>T (p.Ser847=)
|
rs775345022
|
0.00004
|
NM_001003800.2(BICD2):c.684T>G (p.Asp228Glu)
|
rs762107122
|
0.00004
|
NM_001024845.3(SLC6A9):c.1537-17A>G
|
rs201703200
|
0.00004
|
NM_001029896.2(WDR45):c.436+10C>T
|
rs782722286
|
0.00004
|
NM_001029896.2(WDR45):c.436+7G>A
|
rs371913698
|
0.00004
|
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=)
|
rs199997352
|
0.00004
|
NM_001044.5(SLC6A3):c.1602C>T (p.Phe534=)
|
rs138475489
|
0.00004
|
NM_001044.5(SLC6A3):c.444C>A (p.Ile148=)
|
rs186229286
|
0.00004
|
NM_001044385.3(TMEM237):c.274+11A>G
|
rs200487330
|
0.00004
|
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
|
rs544767440
|
0.00004
|
NM_001077350.3(NPRL3):c.1302C>T (p.Val434=)
|
rs570086678
|
0.00004
|
NM_001077350.3(NPRL3):c.924+7C>G
|
rs778499898
|
0.00004
|
NM_001099922.3(ALG13):c.1435+20A>G
|
rs368555602
|
0.00004
|
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=)
|
rs775697727
|
0.00004
|
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala)
|
rs748648454
|
0.00004
|
NM_001099922.3(ALG13):c.2616A>G (p.Gln872=)
|
rs764400701
|
0.00004
|
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=)
|
rs376626719
|
0.00004
|
NM_001110556.2(FLNA):c.1092C>T (p.His364=)
|
rs782530005
|
0.00004
|
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys)
|
rs782673341
|
0.00004
|
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)
|
rs782371735
|
0.00004
|
NM_001110556.2(FLNA):c.1749C>T (p.Gly583=)
|
rs782155641
|
0.00004
|
NM_001110556.2(FLNA):c.1854G>C (p.Gln618His)
|
rs782495413
|
0.00004
|
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)
|
rs782563602
|
0.00004
|
NM_001110556.2(FLNA):c.2023-6C>T
|
rs372021340
|
0.00004
|
NM_001110556.2(FLNA):c.2479A>G (p.Ile827Val)
|
rs371361696
|
0.00004
|
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg)
|
rs781988041
|
0.00004
|
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=)
|
rs373908435
|
0.00004
|
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=)
|
rs781917512
|
0.00004
|
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)
|
rs782426283
|
0.00004
|
NM_001110556.2(FLNA):c.4981G>A (p.Gly1661Ser)
|
rs1402204338
|
0.00004
|
NM_001110556.2(FLNA):c.5218-4G>A
|
rs370196495
|
0.00004
|
NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys)
|
rs781962741
|
0.00004
|
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)
|
rs782779958
|
0.00004
|
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser)
|
rs200200745
|
0.00004
|
NM_001110556.2(FLNA):c.63C>T (p.Val21=)
|
rs782306951
|
0.00004
|
NM_001110556.2(FLNA):c.720+9G>A
|
rs781887001
|
0.00004
|
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser)
|
rs201871183
|
0.00004
|
NM_001110792.2(MECP2):c.1120C>G (p.Pro374Ala)
|
rs782171742
|
0.00004
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)
|
rs61753970
|
0.00004
|
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=)
|
rs781825661
|
0.00004
|
NM_001110792.2(MECP2):c.750G>A (p.Gly250=)
|
rs369813305
|
0.00004
|
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)
|
rs782239416
|
0.00004
|
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met)
|
rs587783140
|
0.00004
|
NM_001111125.3(IQSEC2):c.1401+7A>G
|
rs782164403
|
0.00004
|
NM_001111125.3(IQSEC2):c.18G>A (p.Gly6=)
|
rs781828922
|
0.00004
|
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys)
|
rs781830206
|
0.00004
|
NM_001111125.3(IQSEC2):c.2451C>T (p.Asp817=)
|
rs782668223
|
0.00004
|
NM_001111125.3(IQSEC2):c.2937C>T (p.Tyr979=)
|
rs191305900
|
0.00004
|
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)
|
rs782697291
|
0.00004
|
NM_001111125.3(IQSEC2):c.3502-19C>T
|
rs782166410
|
0.00004
|
NM_001127178.3(PIGG):c.361-8G>T
|
rs575862015
|
0.00004
|
NM_001127178.3(PIGG):c.883G>T (p.Ala295Ser)
|
rs201853289
|
0.00004
|
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=)
|
rs368048030
|
0.00004
|
NM_001127222.2(CACNA1A):c.4521C>A (p.Ala1507=)
|
rs183712771
|
0.00004
|
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=)
|
rs372807389
|
0.00004
|
NM_001130438.3(SPTAN1):c.4046+4C>T
|
rs370704701
|
0.00004
|
NM_001130438.3(SPTAN1):c.4345-16C>T
|
rs549736000
|
0.00004
|
NM_001130438.3(SPTAN1):c.5479-15G>A
|
rs377449636
|
0.00004
|
NM_001130823.2(DNMT1):c.-72C>T
|
rs779334757
|
0.00004
|
NM_001134407.3(GRIN2A):c.2532G>A (p.Lys844=)
|
rs754414929
|
0.00004
|
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=)
|
rs113847665
|
0.00004
|
NM_001134407.3(GRIN2A):c.3427G>A (p.Glu1143Lys)
|
rs61758996
|
0.00004
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
NM_001161352.2(KCNMA1):c.1593+18C>T
|
rs189310292
|
0.00004
|
NM_001161352.2(KCNMA1):c.1594-20dup
|
rs535571320
|
0.00004
|
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=)
|
rs189703190
|
0.00004
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
NM_001165963.4(SCN1A):c.875T>C (p.Ile292Thr)
|
rs766503699
|
0.00004
|
NM_001172509.2(SATB2):c.1140T>A (p.Ala380=)
|
rs771044415
|
0.00004
|
NM_001172509.2(SATB2):c.169+11G>T
|
rs779817342
|
0.00004
|
NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=)
|
rs376004978
|
0.00004
|
NM_001199753.2(CPT1C):c.1450-8G>A
|
rs374640833
|
0.00004
|
NM_001242896.3(DEPDC5):c.562+13T>C
|
rs773199371
|
0.00004
|
NM_001244008.2(KIF1A):c.4520G>A (p.Arg1507Gln)
|
rs750045020
|
0.00004
|
NM_001244008.2(KIF1A):c.4626G>A (p.Leu1542=)
|
rs759679465
|
0.00004
|
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr)
|
rs756136593
|
0.00004
|
NM_001271.4(CHD2):c.1474C>T (p.Leu492=)
|
rs139149362
|
0.00004
|
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)
|
rs370160870
|
0.00004
|
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr)
|
rs747794466
|
0.00004
|
NM_001271.4(CHD2):c.516A>G (p.Gln172=)
|
rs770631510
|
0.00004
|
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu)
|
rs201842753
|
0.00004
|
NM_001282531.3(ADNP):c.393G>A (p.Pro131=)
|
rs201360495
|
0.00004
|
NM_001288705.3(CSF1R):c.*199A>G
|
rs138239430
|
0.00004
|
NM_001288705.3(CSF1R):c.1606C>G (p.Leu536Val)
|
rs55942044
|
0.00004
|
NM_001288705.3(CSF1R):c.2499G>A (p.Thr833=)
|
rs149872699
|
0.00004
|
NM_001288705.3(CSF1R):c.943G>A (p.Val315Met)
|
rs756763314
|
0.00004
|
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn)
|
rs140313320
|
0.00004
|
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)
|
rs140332992
|
0.00004
|
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr)
|
rs568910724
|
0.00004
|
NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala)
|
rs759183785
|
0.00004
|
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=)
|
rs532108774
|
0.00004
|
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=)
|
rs782520132
|
0.00004
|
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr)
|
rs121908918
|
0.00004
|
NM_001365536.1(SCN9A):c.3288C>T (p.Ser1096=)
|
rs749337119
|
0.00004
|
NM_001365999.1(SZT2):c.8319T>G (p.Ala2773=)
|
rs149672814
|
0.00004
|
NM_001367561.1(DOCK7):c.5724+18A>G
|
rs377719435
|
0.00004
|
NM_001371279.1(REEP1):c.32+19C>G
|
rs536482080
|
0.00004
|
NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp)
|
rs371337420
|
0.00004
|
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp)
|
rs201668347
|
0.00004
|
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)
|
rs199626531
|
0.00004
|
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)
|
rs568826753
|
0.00004
|
NM_001378452.1(ITPR1):c.6808+8C>G
|
rs2270749
|
0.00004
|
NM_001379500.1(COL18A1):c.2032-10G>A
|
rs368213286
|
0.00004
|
NM_001382391.1(CSPP1):c.924-9G>A
|
rs199910808
|
0.00004
|
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser)
|
rs564786569
|
0.00004
|
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn)
|
rs141403873
|
0.00004
|
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
|
rs749979249
|
0.00004
|
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)
|
rs374592247
|
0.00004
|
NM_001845.6(COL4A1):c.2103C>T (p.Asp701=)
|
rs561116319
|
0.00004
|
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu)
|
rs189728415
|
0.00004
|
NM_001846.4(COL4A2):c.1790A>G (p.Lys597Arg)
|
rs201676472
|
0.00004
|
NM_001927.4(DES):c.*112C>G
|
rs540351476
|
0.00004
|
NM_001958.5(EEF1A2):c.351G>A (p.Ala117=)
|
rs148602858
|
0.00004
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
rs200726600
|
0.00004
|
NM_002137.4(HNRNPA2B1):c.659-19T>C
|
rs781454007
|
0.00004
|
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=)
|
rs3750977
|
0.00004
|
NM_002361.4(MAG):c.971-4G>A
|
rs201450065
|
0.00004
|
NM_002397.5(MEF2C):c.258+10C>T
|
rs563149132
|
0.00004
|
NM_002609.4(PDGFRB):c.3102C>T (p.Asp1034=)
|
rs569140859
|
0.00004
|
NM_002641.4(PIGA):c.198G>A (p.Lys66=)
|
rs762748091
|
0.00004
|
NM_002641.4(PIGA):c.877A>G (p.Lys293Glu)
|
rs202161781
|
0.00004
|
NM_002641.4(PIGA):c.981+8G>A
|
rs778602062
|
0.00004
|
NM_002778.4(PSAP):c.1281C>T (p.Ser427=)
|
rs529776324
|
0.00004
|
NM_003042.4(SLC6A1):c.885A>T (p.Ser295=)
|
rs563719346
|
0.00004
|
NM_003070.5(SMARCA2):c.4646G>A (p.Arg1549Gln)
|
rs201798443
|
0.00004
|
NM_003072.5(SMARCA4):c.1209G>A (p.Glu403=)
|
rs200159174
|
0.00004
|
NM_003072.5(SMARCA4):c.2199C>T (p.Ala733=)
|
rs538629432
|
0.00004
|
NM_003072.5(SMARCA4):c.3765G>A (p.Glu1255=)
|
rs183060137
|
0.00004
|
NM_003334.4(UBA1):c.1610G>A (p.Arg537His)
|
rs372418523
|
0.00004
|
NM_003334.4(UBA1):c.177-11del
|
rs781797300
|
0.00004
|
NM_003334.4(UBA1):c.2376G>A (p.Gln792=)
|
rs782085921
|
0.00004
|
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=)
|
rs781864389
|
0.00004
|
NM_003477.3(PDHX):c.1188A>G (p.Leu396=)
|
rs200434738
|
0.00004
|
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)
|
rs528966598
|
0.00004
|
NM_003690.5(PRKRA):c.65+10C>T
|
rs535076601
|
0.00004
|
NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=)
|
rs182058393
|
0.00004
|
NM_003900.5(SQSTM1):c.789G>A (p.Gly263=)
|
rs200889080
|
0.00004
|
NM_004082.5(DCTN1):c.1822G>A (p.Val608Met)
|
rs780858230
|
0.00004
|
NM_004082.5(DCTN1):c.2646C>T (p.Ser882=)
|
rs191073199
|
0.00004
|
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=)
|
rs371241720
|
0.00004
|
NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln)
|
rs553822174
|
0.00004
|
NM_004168.4(SDHA):c.513T>C (p.Arg171=)
|
rs765157205
|
0.00004
|
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu)
|
rs143180774
|
0.00004
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn)
|
rs754429038
|
0.00004
|
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val)
|
rs758386187
|
0.00004
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00004
|
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=)
|
rs199610814
|
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_004408.4(DNM1):c.1128+11C>G
|
rs761415279
|
0.00004
|
NM_004519.4(KCNQ3):c.*5482A>G
|
rs192695801
|
0.00004
|
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile)
|
rs143683496
|
0.00004
|
NM_004519.4(KCNQ3):c.1665C>T (p.Leu555=)
|
rs143511163
|
0.00004
|
NM_004586.3(RPS6KA3):c.846-6A>G
|
rs375177835
|
0.00004
|
NM_004738.5(VAPB):c.*884A>G
|
rs3746398
|
0.00004
|
NM_004960.3(FUS):c.*1883T>C
|
rs549012470
|
0.00004
|
NM_004960.3(FUS):c.*2884A>T
|
rs554281103
|
0.00004
|
NM_004974.4(KCNA2):c.972C>T (p.Ser324=)
|
rs765820644
|
0.00004
|
NM_004975.4(KCNB1):c.375C>T (p.Asp125=)
|
rs201414449
|
0.00004
|
NM_004975.4(KCNB1):c.594C>T (p.Phe198=)
|
rs375779334
|
0.00004
|
NM_005027.4(PIK3R2):c.1215C>T (p.Tyr405=)
|
rs200914853
|
0.00004
|
NM_005045.4(RELN):c.1320A>G (p.Thr440=)
|
rs376968265
|
0.00004
|
NM_005045.4(RELN):c.1690C>A (p.Leu564Ile)
|
rs748901010
|
0.00004
|
NM_005045.4(RELN):c.2779A>G (p.Met927Val)
|
rs546154419
|
0.00004
|
NM_005120.3(MED12):c.1348+18G>A
|
rs776024292
|
0.00004
|
NM_005120.3(MED12):c.1975-5C>T
|
rs200891932
|
0.00004
|
NM_005120.3(MED12):c.2571G>A (p.Thr857=)
|
rs368090262
|
0.00004
|
NM_005120.3(MED12):c.4863+15C>T
|
rs778076528
|
0.00004
|
NM_005120.3(MED12):c.5190G>C (p.Leu1730=)
|
rs753355369
|
0.00004
|
NM_005120.3(MED12):c.5775A>G (p.Ser1925=)
|
rs376753995
|
0.00004
|
NM_005120.3(MED12):c.6112G>A (p.Val2038Ile)
|
rs762612521
|
0.00004
|
NM_005154.5(USP8):c.2287C>T (p.Arg763Trp)
|
rs78143971
|
0.00004
|
NM_005154.5(USP8):c.2292C>A (p.Asn764Lys)
|
rs74840283
|
0.00004
|
NM_005249.5(FOXG1):c.251C>A (p.Pro84His)
|
rs866815665
|
0.00004
|
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala)
|
rs796052460
|
0.00004
|
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)
|
rs782501125
|
0.00004
|
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met)
|
rs782410390
|
0.00004
|
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=)
|
rs782064674
|
0.00004
|
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=)
|
rs782369645
|
0.00004
|
NM_005334.3(HCFC1):c.6004+14G>A
|
rs371228352
|
0.00004
|
NM_005359.6(SMAD4):c.-401C>T
|
rs555375675
|
0.00004
|
NM_005573.4(LMNB1):c.*518T>C
|
rs185784874
|
0.00004
|
NM_005591.4(MRE11):c.1784-16T>G
|
rs200718476
|
0.00004
|
NM_005629.4(SLC6A8):c.1392+12G>T
|
rs782113493
|
0.00004
|
NM_005629.4(SLC6A8):c.1615G>A (p.Val539Ile)
|
rs782354054
|
0.00004
|
NM_005629.4(SLC6A8):c.1632G>A (p.Pro544=)
|
rs782393373
|
0.00004
|
NM_005629.4(SLC6A8):c.306A>G (p.Gly102=)
|
rs781983557
|
0.00004
|
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=)
|
rs782517934
|
0.00004
|
NM_006015.6(ARID1A):c.3870G>A (p.Thr1290=)
|
rs753683399
|
0.00004
|
NM_006030.4(CACNA2D2):c.1392A>G (p.Glu464=)
|
rs201985877
|
0.00004
|
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=)
|
rs201204481
|
0.00004
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
NM_006516.4(SLC2A1):c.276-19C>T
|
rs74945664
|
0.00004
|
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His)
|
rs374080633
|
0.00004
|
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)
|
rs534113895
|
0.00004
|
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)
|
rs55693364
|
0.00004
|
NM_006772.3(SYNGAP1):c.1198G>C (p.Val400Leu)
|
rs201020155
|
0.00004
|
NM_006772.3(SYNGAP1):c.1604G>C (p.Ser535Thr)
|
rs750770222
|
0.00004
|
NM_006772.3(SYNGAP1):c.2409A>G (p.Lys803=)
|
rs770750501
|
0.00004
|
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)
|
rs749376396
|
0.00004
|
NM_006772.3(SYNGAP1):c.773G>A (p.Arg258His)
|
rs538281267
|
0.00004
|
NM_007126.5(VCP):c.*15C>T
|
rs762559031
|
0.00004
|
NM_007126.5(VCP):c.*438A>G
|
rs137953487
|
0.00004
|
NM_007254.4(PNKP):c.1126+9C>T
|
rs3739202
|
0.00004
|
NM_007327.4(GRIN1):c.1113C>T (p.His371=)
|
rs150508714
|
0.00004
|
NM_007327.4(GRIN1):c.246C>T (p.Leu82=)
|
rs192006771
|
0.00004
|
NM_007327.4(GRIN1):c.507C>T (p.Asp169=)
|
rs199720207
|
0.00004
|
NM_007327.4(GRIN1):c.570+12C>T
|
rs201869639
|
0.00004
|
NM_012193.4(FZD4):c.*3888G>A
|
rs541479825
|
0.00004
|
NM_013275.6(ANKRD11):c.5250C>T (p.Thr1750=)
|
rs202126162
|
0.00004
|
NM_013275.6(ANKRD11):c.6434C>T (p.Thr2145Ile)
|
rs761862402
|
0.00004
|
NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu)
|
rs1283976400
|
0.00004
|
NM_013275.6(ANKRD11):c.651G>A (p.Ala217=)
|
rs768461388
|
0.00004
|
NM_013275.6(ANKRD11):c.6781G>A (p.Glu2261Lys)
|
rs770262960
|
0.00004
|
NM_013275.6(ANKRD11):c.745-20C>T
|
rs371708631
|
0.00004
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met)
|
rs727504227
|
0.00004
|
NM_014795.4(ZEB2):c.395A>G (p.Asn132Ser)
|
rs369622877
|
0.00004
|
NM_014795.4(ZEB2):c.768C>T (p.Leu256=)
|
rs370751674
|
0.00004
|
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=)
|
rs376913055
|
0.00004
|
NM_014855.3(AP5Z1):c.1788C>T (p.Tyr596=)
|
rs768113900
|
0.00004
|
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)
|
rs764995848
|
0.00004
|
NM_015046.7(SETX):c.2234G>A (p.Arg745His)
|
rs373933140
|
0.00004
|
NM_015046.7(SETX):c.2543T>G (p.Val848Gly)
|
rs567711722
|
0.00004
|
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)
|
rs138287942
|
0.00004
|
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)
|
rs372529790
|
0.00004
|
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr)
|
rs760535401
|
0.00004
|
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
|
rs376381668
|
0.00004
|
NM_015046.7(SETX):c.377A>G (p.His126Arg)
|
rs368932301
|
0.00004
|
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)
|
rs761119964
|
0.00004
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)
|
rs199748733
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)
|
rs770469636
|
0.00004
|
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr)
|
rs530686162
|
0.00004
|
NM_015046.7(SETX):c.77C>T (p.Pro26Leu)
|
rs377617692
|
0.00004
|
NM_015046.7(SETX):c.986G>A (p.Arg329Gln)
|
rs376077293
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_015346.4(ZFYVE26):c.1597G>A (p.Ala533Thr)
|
rs551062468
|
0.00004
|
NM_015915.5(ATL1):c.570C>G (p.Leu190=)
|
rs202173614
|
0.00004
|
NM_016032.4(ZDHHC9):c.369G>A (p.Pro123=)
|
rs763192908
|
0.00004
|
NM_016032.4(ZDHHC9):c.674+20T>C
|
rs45555436
|
0.00004
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
0.00004
|
NM_016373.4(WWOX):c.542C>T (p.Thr181Ile)
|
rs756339242
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_018723.4(RBFOX1):c.354G>A (p.Arg118=)
|
rs200053144
|
0.00004
|
NM_018834.6(MATR3):c.2191T>C (p.Leu731=)
|
rs149714542
|
0.00004
|
NM_020631.6(PLEKHG5):c.771C>G (p.Gly257=)
|
rs200400689
|
0.00004
|
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=)
|
rs368876173
|
0.00004
|
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=)
|
rs769406687
|
0.00004
|
NM_020822.3(KCNT1):c.2841+10C>T
|
rs765179799
|
0.00004
|
NM_020822.3(KCNT1):c.3006G>A (p.Pro1002=)
|
rs377162900
|
0.00004
|
NM_020919.4(ALS2):c.1674C>A (p.Gly558=)
|
rs750198886
|
0.00004
|
NM_020988.3(GNAO1):c.425A>G (p.Asn142Ser)
|
rs758424351
|
0.00004
|
NM_021072.4(HCN1):c.84G>A (p.Thr28=)
|
rs1377682866
|
0.00004
|
NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys)
|
rs371658961
|
0.00004
|
NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp)
|
rs1459266876
|
0.00004
|
NM_021098.3(CACNA1H):c.1315C>T (p.Arg439Cys)
|
rs756550215
|
0.00004
|
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)
|
rs1325999341
|
0.00004
|
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys)
|
rs528341556
|
0.00004
|
NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys)
|
rs1367396955
|
0.00004
|
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His)
|
rs747807971
|
0.00004
|
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg)
|
rs768565046
|
0.00004
|
NM_021098.3(CACNA1H):c.2026C>A (p.Leu676Met)
|
rs776134781
|
0.00004
|
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys)
|
rs371324992
|
0.00004
|
NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser)
|
rs367610523
|
0.00004
|
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly)
|
rs559573879
|
0.00004
|
NM_021098.3(CACNA1H):c.230C>T (p.Ala77Val)
|
rs900768678
|
0.00004
|
NM_021098.3(CACNA1H):c.2871C>T (p.Phe957=)
|
rs574604085
|
0.00004
|
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn)
|
rs745354512
|
0.00004
|
NM_021098.3(CACNA1H):c.3313C>T (p.Arg1105Cys)
|
rs370833327
|
0.00004
|
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu)
|
rs753159318
|
0.00004
|
NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln)
|
rs1002596641
|
0.00004
|
NM_021098.3(CACNA1H):c.3526G>A (p.Asp1176Asn)
|
rs61294616
|
0.00004
|
NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln)
|
rs758674093
|
0.00004
|
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp)
|
rs372472186
|
0.00004
|
NM_021098.3(CACNA1H):c.3613C>T (p.Arg1205Trp)
|
rs779622633
|
0.00004
|
NM_021098.3(CACNA1H):c.3709G>A (p.Glu1237Lys)
|
rs973149799
|
0.00004
|
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His)
|
rs749122105
|
0.00004
|
NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His)
|
rs774455553
|
0.00004
|
NM_021098.3(CACNA1H):c.4939G>A (p.Glu1647Lys)
|
rs763211250
|
0.00004
|
NM_021098.3(CACNA1H):c.5378A>G (p.Asn1793Ser)
|
rs72552051
|
0.00004
|
NM_021098.3(CACNA1H):c.5749C>T (p.Arg1917Cys)
|
rs552691524
|
0.00004
|
NM_021098.3(CACNA1H):c.5950G>A (p.Ala1984Thr)
|
rs761696834
|
0.00004
|
NM_021098.3(CACNA1H):c.5977G>A (p.Glu1993Lys)
|
rs529327549
|
0.00004
|
NM_021098.3(CACNA1H):c.6134C>T (p.Pro2045Leu)
|
rs775090579
|
0.00004
|
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln)
|
rs772785163
|
0.00004
|
NM_021098.3(CACNA1H):c.6379G>A (p.Gly2127Ser)
|
rs745587324
|
0.00004
|
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys)
|
rs768826048
|
0.00004
|
NM_021098.3(CACNA1H):c.6893G>A (p.Gly2298Glu)
|
rs769136587
|
0.00004
|
NM_021098.3(CACNA1H):c.6940G>A (p.Val2314Ile)
|
rs370867825
|
0.00004
|
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg)
|
rs369329819
|
0.00004
|
NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser)
|
rs766354453
|
0.00004
|
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)
|
rs140040335
|
0.00004
|
NM_021625.5(TRPV4):c.936G>A (p.Ala312=)
|
rs202084699
|
0.00004
|
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)
|
rs771310512
|
0.00004
|
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
|
rs368863664
|
0.00004
|
NM_022168.4(IFIH1):c.2304+20C>T
|
rs561559397
|
0.00004
|
NM_025219.3(DNAJC5):c.108-3C>T
|
rs541118679
|
0.00004
|
NM_031206.7(LAS1L):c.1185G>A (p.Thr395=)
|
rs373278066
|
0.00004
|
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val)
|
rs200962317
|
0.00004
|
NM_031844.3(HNRNPU):c.1952A>C (p.Glu651Ala)
|
rs202115297
|
0.00004
|
NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala)
|
rs199765762
|
0.00004
|
NM_032737.4(LMNB2):c.1821+4G>A
|
rs779811801
|
0.00004
|
NM_032737.4(LMNB2):c.750G>C (p.Gln250His)
|
rs758373595
|
0.00004
|
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=)
|
rs367698917
|
0.00004
|
NM_080632.3(UPF3B):c.807+19T>C
|
rs750984351
|
0.00004
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
NM_139058.3(ARX):c.99G>A (p.Leu33=)
|
rs756804509
|
0.00004
|
NM_139318.5(KCNH5):c.2456G>T (p.Gly819Val)
|
rs373106772
|
0.00004
|
NM_139318.5(KCNH5):c.501G>A (p.Thr167=)
|
rs200714977
|
0.00004
|
NM_145725.3(TRAF3):c.245+19C>T
|
rs191447207
|
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_152296.5(ATP1A3):c.2439G>A (p.Ala813=)
|
rs189555627
|
0.00004
|
NM_152296.5(ATP1A3):c.2634G>A (p.Leu878=)
|
rs782293282
|
0.00004
|
NM_152309.3(PIK3AP1):c.1863C>T (p.Asn621=)
|
rs775513848
|
0.00004
|
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe)
|
rs200268089
|
0.00004
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
NM_152564.5(VPS13B):c.1425+9G>A
|
rs551460373
|
0.00004
|
NM_152564.5(VPS13B):c.2825-4T>A
|
rs201354177
|
0.00004
|
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu)
|
rs144668374
|
0.00004
|
NM_172107.4(KCNQ2):c.1407C>T (p.Ala469=)
|
rs1801385
|
0.00004
|
NM_172107.4(KCNQ2):c.2253G>A (p.Ser751=)
|
rs552151799
|
0.00004
|
NM_172107.4(KCNQ2):c.816+10G>T
|
rs201012161
|
0.00004
|
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln)
|
rs369775705
|
0.00004
|
NM_198578.4(LRRK2):c.4959A>G (p.Leu1653=)
|
rs111503579
|
0.00004
|
NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met)
|
rs200002022
|
0.00004
|
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser)
|
rs138323389
|
0.00004
|
NM_203446.3(SYNJ1):c.1914G>A (p.Leu638=)
|
rs534908601
|
0.00004
|
NM_205836.3(FBXO38):c.1527C>T (p.His509=)
|
rs182585967
|
0.00004
|
NM_205836.3(FBXO38):c.2751G>A (p.Val917=)
|
rs201169649
|
0.00004
|
NM_000021.4(PSEN1):c.138C>T (p.His46=)
|
rs116882898
|
0.00003
|
NM_000033.4(ABCD1):c.1068C>T (p.Gly356=)
|
rs782548310
|
0.00003
|
NM_000033.4(ABCD1):c.1456G>A (p.Gly486Arg)
|
rs782242003
|
0.00003
|
NM_000033.4(ABCD1):c.1489-13G>T
|
rs782622708
|
0.00003
|
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)
|
rs782720024
|
0.00003
|
NM_000033.4(ABCD1):c.476C>G (p.Ala159Gly)
|
rs781871257
|
0.00003
|
NM_000033.4(ABCD1):c.768C>T (p.Asn256=)
|
rs782236148
|
0.00003
|
NM_000033.4(ABCD1):c.90C>T (p.His30=)
|
rs782195097
|
0.00003
|
NM_000044.6(AR):c.1723C>G (p.Leu575Val)
|
rs376443652
|
0.00003
|
NM_000044.6(AR):c.2659A>G (p.Met887Val)
|
rs755226547
|
0.00003
|
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp)
|
rs782603364
|
0.00003
|
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)
|
rs72554638
|
0.00003
|
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)
|
rs782577253
|
0.00003
|
NM_000052.7(ATP7A):c.2406+15G>C
|
rs782547388
|
0.00003
|
NM_000052.7(ATP7A):c.2406+18G>A
|
rs1243579823
|
0.00003
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
NM_000052.7(ATP7A):c.849T>C (p.Ile283=)
|
rs782773745
|
0.00003
|
NM_000096.4(CP):c.1038C>T (p.Ala346=)
|
rs146895584
|
0.00003
|
NM_000146.4(FTL):c.73C>T (p.Leu25=)
|
rs201971200
|
0.00003
|
NM_000284.4(PDHA1):c.390C>T (p.Ser130=)
|
rs756138817
|
0.00003
|
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
|
rs770667770
|
0.00003
|
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn)
|
rs535326039
|
0.00003
|
NM_000287.4(PEX6):c.2806+14C>T
|
rs544074442
|
0.00003
|
NM_000345.4(SNCA):c.287A>G (p.Lys96Arg)
|
rs548523899
|
0.00003
|
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00003
|
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)
|
rs202178897
|
0.00003
|
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=)
|
rs778616722
|
0.00003
|
NM_000484.4(APP):c.890C>T (p.Thr297Met)
|
rs557227002
|
0.00003
|
NM_000489.6(ATRX):c.2009C>T (p.Thr670Ile)
|
rs781797239
|
0.00003
|
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)
|
rs372617572
|
0.00003
|
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr)
|
rs1340328179
|
0.00003
|
NM_000489.6(ATRX):c.227C>T (p.Ser76Leu)
|
rs782664370
|
0.00003
|
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg)
|
rs1411348345
|
0.00003
|
NM_000489.6(ATRX):c.2581G>A (p.Asp861Asn)
|
rs782629714
|
0.00003
|
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met)
|
rs782757975
|
0.00003
|
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)
|
rs1064796745
|
0.00003
|
NM_000489.6(ATRX):c.3888A>G (p.Pro1296=)
|
rs139540415
|
0.00003
|
NM_000489.6(ATRX):c.4207A>G (p.Arg1403Gly)
|
rs782464685
|
0.00003
|
NM_000489.6(ATRX):c.4557+19C>T
|
rs781857296
|
0.00003
|
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=)
|
rs781845474
|
0.00003
|
NM_000489.6(ATRX):c.5786+20G>A
|
rs782150691
|
0.00003
|
NM_000489.6(ATRX):c.595-17C>G
|
rs782473887
|
0.00003
|
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=)
|
rs782159753
|
0.00003
|
NM_000489.6(ATRX):c.7011A>G (p.Glu2337=)
|
rs782078102
|
0.00003
|
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=)
|
rs782703242
|
0.00003
|
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=)
|
rs374374188
|
0.00003
|
NM_000702.4(ATP1A2):c.2116-14C>T
|
rs748188822
|
0.00003
|
NM_000702.4(ATP1A2):c.2937G>T (p.Pro979=)
|
rs201879002
|
0.00003
|
NM_000744.7(CHRNA4):c.807C>T (p.Ser269=)
|
rs201335931
|
0.00003
|
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His)
|
rs201982602
|
0.00003
|
NM_000834.5(GRIN2B):c.2861G>A (p.Cys954Tyr)
|
rs376328340
|
0.00003
|
NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=)
|
rs1806200
|
0.00003
|
NM_000834.5(GRIN2B):c.4107C>T (p.Gly1369=)
|
rs201732760
|
0.00003
|
NM_000834.5(GRIN2B):c.4321C>T (p.Arg1441Cys)
|
rs773648473
|
0.00003
|
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val)
|
rs587777884
|
0.00003
|
NM_001003800.2(BICD2):c.1094C>T (p.Thr365Met)
|
rs374704553
|
0.00003
|
NM_001029896.2(WDR45):c.236-18C>T
|
rs782473996
|
0.00003
|
NM_001029896.2(WDR45):c.257G>A (p.Arg86Gln)
|
rs147437546
|
0.00003
|
NM_001029896.2(WDR45):c.485C>T (p.Pro162Leu)
|
rs201519480
|
0.00003
|
NM_001032221.6(STXBP1):c.1587C>T (p.Gly529=)
|
rs573931063
|
0.00003
|
NM_001032382.2(PQBP1):c.*3C>T
|
rs781944808
|
0.00003
|
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=)
|
rs529842407
|
0.00003
|
NM_001040142.2(SCN2A):c.837G>A (p.Leu279=)
|
rs776892826
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001077350.3(NPRL3):c.919C>T (p.Leu307=)
|
rs549291288
|
0.00003
|
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)
|
rs751833365
|
0.00003
|
NM_001099922.3(ALG13):c.2037A>G (p.Pro679=)
|
rs764270660
|
0.00003
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
NM_001110556.2(FLNA):c.1110C>T (p.Phe370=)
|
rs886044869
|
0.00003
|
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=)
|
rs782598234
|
0.00003
|
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys)
|
rs367639317
|
0.00003
|
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln)
|
rs781915319
|
0.00003
|
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=)
|
rs781977506
|
0.00003
|
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp)
|
rs782765195
|
0.00003
|
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser)
|
rs782580317
|
0.00003
|
NM_001110556.2(FLNA):c.1713C>T (p.Gly571=)
|
rs782122510
|
0.00003
|
NM_001110556.2(FLNA):c.1798G>C (p.Glu600Gln)
|
rs781861830
|
0.00003
|
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr)
|
rs782158357
|
0.00003
|
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=)
|
rs188212919
|
0.00003
|
NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu)
|
rs782140888
|
0.00003
|
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn)
|
rs375495397
|
0.00003
|
NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val)
|
rs782099443
|
0.00003
|
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His)
|
rs782758177
|
0.00003
|
NM_001110556.2(FLNA):c.3173C>T (p.Pro1058Leu)
|
rs782614645
|
0.00003
|
NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn)
|
rs782561908
|
0.00003
|
NM_001110556.2(FLNA):c.3309G>A (p.Thr1103=)
|
rs782374592
|
0.00003
|
NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala)
|
rs368441729
|
0.00003
|
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr)
|
rs370202395
|
0.00003
|
NM_001110556.2(FLNA):c.3935G>A (p.Arg1312His)
|
rs377505188
|
0.00003
|
NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr)
|
rs782610314
|
0.00003
|
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr)
|
rs782746289
|
0.00003
|
NM_001110556.2(FLNA):c.4260C>T (p.Gly1420=)
|
rs782653215
|
0.00003
|
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala)
|
rs781972123
|
0.00003
|
NM_001110556.2(FLNA):c.4579G>A (p.Asp1527Asn)
|
rs782537273
|
0.00003
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
NM_001110556.2(FLNA):c.4786A>G (p.Ile1596Val)
|
rs781870374
|
0.00003
|
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala)
|
rs782469665
|
0.00003
|
NM_001110556.2(FLNA):c.5139G>A (p.Thr1713=)
|
rs782460018
|
0.00003
|
NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln)
|
rs782134110
|
0.00003
|
NM_001110556.2(FLNA):c.5587G>A (p.Val1863Ile)
|
rs781809353
|
0.00003
|
NM_001110556.2(FLNA):c.5827G>A (p.Val1943Ile)
|
rs373682131
|
0.00003
|
NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=)
|
rs782787843
|
0.00003
|
NM_001110556.2(FLNA):c.5977C>T (p.Arg1993Trp)
|
rs371616686
|
0.00003
|
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp)
|
rs782160183
|
0.00003
|
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=)
|
rs782221205
|
0.00003
|
NM_001110556.2(FLNA):c.6380-17G>A
|
rs200764111
|
0.00003
|
NM_001110556.2(FLNA):c.6446G>A (p.Arg2149Gln)
|
rs201932105
|
0.00003
|
NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile)
|
rs367655833
|
0.00003
|
NM_001110556.2(FLNA):c.6602G>A (p.Arg2201His)
|
rs368547421
|
0.00003
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser)
|
rs797044739
|
0.00003
|
NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys)
|
rs781984348
|
0.00003
|
NM_001110556.2(FLNA):c.7350C>T (p.Phe2450=)
|
rs782225826
|
0.00003
|
NM_001110556.2(FLNA):c.7553-10T>C
|
rs782156724
|
0.00003
|
NM_001110556.2(FLNA):c.759C>T (p.Asp253=)
|
rs782701643
|
0.00003
|
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)
|
rs781864075
|
0.00003
|
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser)
|
rs797045691
|
0.00003
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val)
|
rs782805738
|
0.00003
|
NM_001110792.2(MECP2):c.1359C>T (p.Ala453=)
|
rs781964746
|
0.00003
|
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)
|
rs375101073
|
0.00003
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
NM_001110792.2(MECP2):c.172G>A (p.Val58Met)
|
rs587783134
|
0.00003
|
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)
|
rs267608440
|
0.00003
|
NM_001110792.2(MECP2):c.261G>A (p.Pro87=)
|
rs61754442
|
0.00003
|
NM_001110792.2(MECP2):c.414-3C>T
|
rs267608465
|
0.00003
|
NM_001110792.2(MECP2):c.484C>T (p.Leu162=)
|
rs371082040
|
0.00003
|
NM_001110792.2(MECP2):c.531C>T (p.Pro177=)
|
rs376821032
|
0.00003
|
NM_001110792.2(MECP2):c.852G>A (p.Pro284=)
|
rs587783746
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=)
|
rs374511542
|
0.00003
|
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=)
|
rs782547252
|
0.00003
|
NM_001111125.3(IQSEC2):c.248C>T (p.Pro83Leu)
|
rs1057518272
|
0.00003
|
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=)
|
rs377545286
|
0.00003
|
NM_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=)
|
rs199643273
|
0.00003
|
NM_001111125.3(IQSEC2):c.3592G>A (p.Val1198Ile)
|
rs1193003776
|
0.00003
|
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=)
|
rs797045629
|
0.00003
|
NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)
|
rs1045410944
|
0.00003
|
NM_001122752.2(SERPINI1):c.404C>T (p.Ala135Val)
|
rs746127233
|
0.00003
|
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=)
|
rs190264873
|
0.00003
|
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)
|
rs200218956
|
0.00003
|
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp)
|
rs144590741
|
0.00003
|
NM_001130438.3(SPTAN1):c.3156G>A (p.Gln1052=)
|
rs749768274
|
0.00003
|
NM_001130438.3(SPTAN1):c.4491+6G>A
|
rs748113883
|
0.00003
|
NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val)
|
rs780622472
|
0.00003
|
NM_001130438.3(SPTAN1):c.5340C>T (p.Asp1780=)
|
rs549528366
|
0.00003
|
NM_001130438.3(SPTAN1):c.6280-5T>A
|
rs746651127
|
0.00003
|
NM_001130438.3(SPTAN1):c.6959+6C>T
|
rs542848685
|
0.00003
|
NM_001134407.3(GRIN2A):c.*1510C>T
|
rs140491007
|
0.00003
|
NM_001134407.3(GRIN2A):c.*4251C>T
|
rs537753852
|
0.00003
|
NM_001134407.3(GRIN2A):c.1278C>G (p.Thr426=)
|
rs776324005
|
0.00003
|
NM_001134407.3(GRIN2A):c.1780C>T (p.Pro594Ser)
|
rs367543140
|
0.00003
|
NM_001134407.3(GRIN2A):c.2478C>T (p.Ala826=)
|
rs373628160
|
0.00003
|
NM_001134407.3(GRIN2A):c.72C>G (p.Ser24Arg)
|
rs781722466
|
0.00003
|
NM_001161352.2(KCNMA1):c.1614G>A (p.Pro538=)
|
rs368568833
|
0.00003
|
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)
|
rs2229008
|
0.00003
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001165963.4(SCN1A):c.859T>G (p.Leu287Val)
|
rs138357595
|
0.00003
|
NM_001166114.2(PNPLA6):c.232+14G>A
|
rs199727584
|
0.00003
|
NM_001172509.2(SATB2):c.1439A>G (p.Asn480Ser)
|
rs201864116
|
0.00003
|
NM_001172509.2(SATB2):c.700+6C>T
|
rs755400212
|
0.00003
|
NM_001173990.3(TMEM216):c.*303C>T
|
rs144613667
|
0.00003
|
NM_001205293.3(CACNA1E):c.5787-17T>C
|
rs747757024
|
0.00003
|
NM_001242896.3(DEPDC5):c.2004A>G (p.Gly668=)
|
rs374037144
|
0.00003
|
NM_001242896.3(DEPDC5):c.4125T>C (p.His1375=)
|
rs200220521
|
0.00003
|
NM_001244008.2(KIF1A):c.4977G>T (p.Glu1659Asp)
|
rs992259915
|
0.00003
|
NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys)
|
rs372226807
|
0.00003
|
NM_001256864.2(DNAJC6):c.2331C>T (p.Gly777=)
|
rs370155769
|
0.00003
|
NM_001271.4(CHD2):c.3279G>A (p.Arg1093=)
|
rs774908145
|
0.00003
|
NM_001271.4(CHD2):c.3734+7A>G
|
rs565514035
|
0.00003
|
NM_001288705.3(CSF1R):c.-25T>A
|
rs375640786
|
0.00003
|
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val)
|
rs779325312
|
0.00003
|
NM_001323289.2(CDKL5):c.2497-17C>T
|
rs780795025
|
0.00003
|
NM_001323289.2(CDKL5):c.249A>G (p.Gly83=)
|
rs764954859
|
0.00003
|
NM_001323289.2(CDKL5):c.282+19A>G
|
rs781452978
|
0.00003
|
NM_001330260.2(SCN8A):c.1897C>G (p.Leu633Val)
|
rs751275472
|
0.00003
|
NM_001330260.2(SCN8A):c.2056G>A (p.Asp686Asn)
|
rs373073046
|
0.00003
|
NM_001330260.2(SCN8A):c.3163C>T (p.Arg1055Trp)
|
rs370141803
|
0.00003
|
NM_001330260.2(SCN8A):c.3645+14G>C
|
rs202031360
|
0.00003
|
NM_001330260.2(SCN8A):c.3957C>T (p.Ala1319=)
|
rs764790057
|
0.00003
|
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile)
|
rs771231471
|
0.00003
|
NM_001347721.2(DYRK1A):c.1247A>C (p.Asn416Thr)
|
rs777063595
|
0.00003
|
NM_001347721.2(DYRK1A):c.1853G>A (p.Arg618Gln)
|
rs761460441
|
0.00003
|
NM_001347721.2(DYRK1A):c.638-3C>T
|
rs779620187
|
0.00003
|
NM_001347721.2(DYRK1A):c.818G>A (p.Ser273Asn)
|
rs758888181
|
0.00003
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=)
|
rs782187939
|
0.00003
|
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly)
|
rs201890240
|
0.00003
|
NM_001365536.1(SCN9A):c.2733C>T (p.Asn911=)
|
rs201560403
|
0.00003
|
NM_001365999.1(SZT2):c.1584C>T (p.Ser528=)
|
rs373399099
|
0.00003
|
NM_001367561.1(DOCK7):c.2985T>A (p.Val995=)
|
rs188467262
|
0.00003
|
NM_001368809.2(AMPD2):c.-52C>G
|
rs570541266
|
0.00003
|
NM_001371279.1(REEP1):c.808C>T (p.Arg270Cys)
|
rs375445585
|
0.00003
|
NM_001371727.1(GABRB2):c.1118G>A (p.Arg373Gln)
|
rs202183786
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790
|
0.00003
|
NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser)
|
rs752445724
|
0.00003
|
NM_001378452.1(ITPR1):c.625-14A>T
|
rs368114873
|
0.00003
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
NM_001387283.1(SMARCA4):c.4187A>T (p.Asp1396Val)
|
rs186823009
|
0.00003
|
NM_001429.4(EP300):c.1302C>T (p.Pro434=)
|
rs199901345
|
0.00003
|
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn)
|
rs781326261
|
0.00003
|
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile)
|
rs754168978
|
0.00003
|
NM_001429.4(EP300):c.2744G>A (p.Arg915His)
|
rs748820220
|
0.00003
|
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val)
|
rs587778258
|
0.00003
|
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile)
|
rs558456063
|
0.00003
|
NM_001429.4(EP300):c.923C>T (p.Pro308Leu)
|
rs587778261
|
0.00003
|
NM_001429.4(EP300):c.952C>G (p.Pro318Ala)
|
rs762647727
|
0.00003
|
NM_001482.3(GATM):c.1239G>A (p.Arg413=)
|
rs550159982
|
0.00003
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005
|
0.00003
|
NM_001845.6(COL4A1):c.*838T>C
|
rs143486029
|
0.00003
|
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp)
|
rs369960952
|
0.00003
|
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg)
|
rs750620293
|
0.00003
|
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)
|
rs769021800
|
0.00003
|
NM_001846.4(COL4A2):c.*769G>A
|
rs2274543
|
0.00003
|
NM_001846.4(COL4A2):c.1596+8G>C
|
rs147871111
|
0.00003
|
NM_001846.4(COL4A2):c.550-13T>C
|
rs572328853
|
0.00003
|
NM_002047.4(GARS1):c.1923T>C (p.His641=)
|
rs182542046
|
0.00003
|
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=)
|
rs541245852
|
0.00003
|
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=)
|
rs150562879
|
0.00003
|
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=)
|
rs182175304
|
0.00003
|
NM_002617.4(PEX10):c.435G>A (p.Met145Ile)
|
rs368273118
|
0.00003
|
NM_002641.4(PIGA):c.120C>T (p.Asp40=)
|
rs200475470
|
0.00003
|
NM_002641.4(PIGA):c.1421G>T (p.Gly474Val)
|
rs142772459
|
0.00003
|
NM_002641.4(PIGA):c.92G>A (p.Arg31His)
|
rs758863767
|
0.00003
|
NM_002778.4(PSAP):c.336C>T (p.Ser112=)
|
rs370977178
|
0.00003
|
NM_003042.4(SLC6A1):c.1732G>A (p.Val578Ile)
|
rs369359690
|
0.00003
|
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)
|
rs1264567694
|
0.00003
|
NM_003070.5(SMARCA2):c.2907C>T (p.Asp969=)
|
rs761701446
|
0.00003
|
NM_003070.5(SMARCA2):c.4247G>C (p.Gly1416Ala)
|
rs3793510
|
0.00003
|
NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=)
|
rs547998868
|
0.00003
|
NM_003072.5(SMARCA4):c.222+19G>A
|
rs759047953
|
0.00003
|
NM_003072.5(SMARCA4):c.2974-4G>A
|
rs766593089
|
0.00003
|
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=)
|
rs149111403
|
0.00003
|
NM_003119.4(SPG7):c.1151-8C>T
|
rs200402056
|
0.00003
|
NM_003334.4(UBA1):c.1152G>A (p.Arg384=)
|
rs782140095
|
0.00003
|
NM_003334.4(UBA1):c.2004-12G>A
|
rs201583168
|
0.00003
|
NM_003334.4(UBA1):c.2275-7C>T
|
rs782291288
|
0.00003
|
NM_003334.4(UBA1):c.2661A>G (p.Ala887=)
|
rs782783941
|
0.00003
|
NM_003334.4(UBA1):c.2913C>T (p.Thr971=)
|
rs782810108
|
0.00003
|
NM_003334.4(UBA1):c.2982G>T (p.Val994=)
|
rs782156608
|
0.00003
|
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala)
|
rs782084400
|
0.00003
|
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)
|
rs200206019
|
0.00003
|
NM_003900.5(SQSTM1):c.301+12C>G
|
rs141530539
|
0.00003
|
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile)
|
rs200973006
|
0.00003
|
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=)
|
rs374533122
|
0.00003
|
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=)
|
rs147297927
|
0.00003
|
NM_004082.5(DCTN1):c.2761-13G>A
|
rs531275207
|
0.00003
|
NM_004082.5(DCTN1):c.72C>T (p.Ala24=)
|
rs368633620
|
0.00003
|
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)
|
rs757536535
|
0.00003
|
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=)
|
rs138353979
|
0.00003
|
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu)
|
rs766086544
|
0.00003
|
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser)
|
rs779479811
|
0.00003
|
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile)
|
rs776549587
|
0.00003
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)
|
rs745551441
|
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_004519.4(KCNQ3):c.1568+15G>A
|
rs766512941
|
0.00003
|
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=)
|
rs145204452
|
0.00003
|
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=)
|
rs773807871
|
0.00003
|
NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=)
|
rs750203223
|
0.00003
|
NM_004960.4(FUS):c.237C>T (p.Gly79=)
|
rs535930927
|
0.00003
|
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu)
|
rs936778119
|
0.00003
|
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met)
|
rs565025643
|
0.00003
|
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=)
|
rs546014325
|
0.00003
|
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr)
|
rs116504075
|
0.00003
|
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu)
|
rs116225248
|
0.00003
|
NM_005045.4(RELN):c.4314A>T (p.Gly1438=)
|
rs368010584
|
0.00003
|
NM_005045.4(RELN):c.5157G>A (p.Ser1719=)
|
rs144388452
|
0.00003
|
NM_005045.4(RELN):c.855A>G (p.Leu285=)
|
rs749680856
|
0.00003
|
NM_005120.3(MED12):c.1794G>A (p.Leu598=)
|
rs776762599
|
0.00003
|
NM_005120.3(MED12):c.183C>T (p.Asn61=)
|
rs770411750
|
0.00003
|
NM_005120.3(MED12):c.2484T>C (p.Asp828=)
|
rs781733323
|
0.00003
|
NM_005120.3(MED12):c.2748C>A (p.Gly916=)
|
rs768686458
|
0.00003
|
NM_005120.3(MED12):c.2849+14C>T
|
rs398124196
|
0.00003
|
NM_005120.3(MED12):c.3012C>T (p.Ile1004=)
|
rs775829185
|
0.00003
|
NM_005120.3(MED12):c.3381G>T (p.Ser1127=)
|
rs369946933
|
0.00003
|
NM_005120.3(MED12):c.5316G>A (p.Pro1772=)
|
rs398124199
|
0.00003
|
NM_005120.3(MED12):c.5836C>T (p.Pro1946Ser)
|
rs1195178209
|
0.00003
|
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=)
|
rs201491358
|
0.00003
|
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)
|
rs111385795
|
0.00003
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)
|
rs782368009
|
0.00003
|
NM_005334.3(HCFC1):c.5379+20G>A
|
rs371712410
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_005573.4(LMNB1):c.1023C>T (p.Asp341=)
|
rs886059858
|
0.00003
|
NM_005629.4(SLC6A8):c.1017-5C>T
|
rs782402297
|
0.00003
|
NM_005629.4(SLC6A8):c.1047T>C (p.Ser349=)
|
rs372928878
|
0.00003
|
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val)
|
rs782551106
|
0.00003
|
NM_005629.4(SLC6A8):c.1474G>A (p.Val492Met)
|
rs782478865
|
0.00003
|
NM_005629.4(SLC6A8):c.1541G>A (p.Arg514Gln)
|
rs782361856
|
0.00003
|
NM_005629.4(SLC6A8):c.495C>T (p.Thr165=)
|
rs144904949
|
0.00003
|
NM_005629.4(SLC6A8):c.633C>T (p.Ile211=)
|
rs781806055
|
0.00003
|
NM_006087.4(TUBB4A):c.*36C>G
|
rs759397360
|
0.00003
|
NM_006267.5(RANBP2):c.7863A>G (p.Lys2621=)
|
rs749384165
|
0.00003
|
NM_006772.3(SYNGAP1):c.2381C>T (p.Pro794Leu)
|
rs375837477
|
0.00003
|
NM_006772.3(SYNGAP1):c.2699C>T (p.Thr900Met)
|
rs751157497
|
0.00003
|
NM_006772.3(SYNGAP1):c.3355G>A (p.Gly1119Arg)
|
rs927915520
|
0.00003
|
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp)
|
rs139853969
|
0.00003
|
NM_007126.5(VCP):c.54A>G (p.Lys18=)
|
rs766042571
|
0.00003
|
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)
|
rs549000007
|
0.00003
|
NM_007327.4(GRIN1):c.614C>T (p.Thr205Met)
|
rs201592328
|
0.00003
|
NM_007375.4(TARDBP):c.*73G>C
|
rs185638796
|
0.00003
|
NM_012193.4(FZD4):c.-12C>A
|
rs532417375
|
0.00003
|
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe)
|
rs368859659
|
0.00003
|
NM_013275.6(ANKRD11):c.449C>T (p.Thr150Met)
|
rs777070083
|
0.00003
|
NM_013275.6(ANKRD11):c.4533C>T (p.Pro1511=)
|
rs769180959
|
0.00003
|
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr)
|
rs777123332
|
0.00003
|
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile)
|
rs199785661
|
0.00003
|
NM_014043.4(CHMP2B):c.*1071A>G
|
rs544589377
|
0.00003
|
NM_014795.4(ZEB2):c.1533C>T (p.Val511=)
|
rs587780994
|
0.00003
|
NM_014795.4(ZEB2):c.167T>C (p.Leu56Pro)
|
rs61750440
|
0.00003
|
NM_014795.4(ZEB2):c.1836G>A (p.Ala612=)
|
rs754916469
|
0.00003
|
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)
|
rs143438888
|
0.00003
|
NM_014795.4(ZEB2):c.2541C>T (p.Asn847=)
|
rs759097498
|
0.00003
|
NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)
|
rs759378757
|
0.00003
|
NM_014844.5(TECPR2):c.2199C>T (p.Ala733=)
|
rs761750187
|
0.00003
|
NM_014846.4(WASHC5):c.-253G>A
|
rs533362974
|
0.00003
|
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)
|
rs761725498
|
0.00003
|
NM_015046.7(SETX):c.267A>G (p.Ile89Met)
|
rs767232097
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.2924C>T (p.Thr975Met)
|
rs200722368
|
0.00003
|
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)
|
rs886063555
|
0.00003
|
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe)
|
rs139559547
|
0.00003
|
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)
|
rs371541705
|
0.00003
|
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)
|
rs756080695
|
0.00003
|
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)
|
rs376678876
|
0.00003
|
NM_015046.7(SETX):c.503G>A (p.Arg168Gln)
|
rs772017103
|
0.00003
|
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)
|
rs375747001
|
0.00003
|
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala)
|
rs372993859
|
0.00003
|
NM_015046.7(SETX):c.5781+9T>C
|
rs772671321
|
0.00003
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
0.00003
|
NM_015161.3(ARL6IP1):c.29A>G (p.Asn10Ser)
|
rs200140310
|
0.00003
|
NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu)
|
rs373126831
|
0.00003
|
NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg)
|
rs772452614
|
0.00003
|
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His)
|
rs201339450
|
0.00003
|
NM_016032.4(ZDHHC9):c.1014G>A (p.Pro338=)
|
rs774643586
|
0.00003
|
NM_016032.4(ZDHHC9):c.1032C>T (p.Pro344=)
|
rs755391148
|
0.00003
|
NM_016032.4(ZDHHC9):c.167+9C>T
|
rs746318308
|
0.00003
|
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser)
|
rs760985201
|
0.00003
|
NM_018026.4(PACS1):c.2549A>G (p.Lys850Arg)
|
rs772469681
|
0.00003
|
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
|
rs371151471
|
0.00003
|
NM_018834.6(MATR3):c.2494-14C>A
|
rs779597861
|
0.00003
|
NM_020822.3(KCNT1):c.1188C>T (p.His396=)
|
rs544796091
|
0.00003
|
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=)
|
rs576099213
|
0.00003
|
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=)
|
rs149927148
|
0.00003
|
NM_021072.4(HCN1):c.261C>G (p.Pro87=)
|
rs199612501
|
0.00003
|
NM_021098.3(CACNA1H):c.1094G>T (p.Gly365Val)
|
rs772246879
|
0.00003
|
NM_021098.3(CACNA1H):c.1284G>T (p.Arg428=)
|
rs771004922
|
0.00003
|
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val)
|
rs759349379
|
0.00003
|
NM_021098.3(CACNA1H):c.1912G>A (p.Gly638Ser)
|
rs747036748
|
0.00003
|
NM_021098.3(CACNA1H):c.1993G>A (p.Gly665Arg)
|
rs761785619
|
0.00003
|
NM_021098.3(CACNA1H):c.2102C>T (p.Pro701Leu)
|
rs772486214
|
0.00003
|
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)
|
rs574809183
|
0.00003
|
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met)
|
rs371500703
|
0.00003
|
NM_021098.3(CACNA1H):c.3173T>C (p.Leu1058Pro)
|
rs1369723667
|
0.00003
|
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln)
|
rs751148760
|
0.00003
|
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu)
|
rs373190026
|
0.00003
|
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln)
|
rs775183925
|
0.00003
|
NM_021098.3(CACNA1H):c.3388G>A (p.Ala1130Thr)
|
rs772745734
|
0.00003
|
NM_021098.3(CACNA1H):c.3662T>C (p.Val1221Ala)
|
rs774661170
|
0.00003
|
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile)
|
rs150821225
|
0.00003
|
NM_021098.3(CACNA1H):c.4377C>T (p.Cys1459=)
|
rs777171317
|
0.00003
|
NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His)
|
rs199669141
|
0.00003
|
NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu)
|
rs370292995
|
0.00003
|
NM_021098.3(CACNA1H):c.5688G>A (p.Ala1896=)
|
rs58835716
|
0.00003
|
NM_021098.3(CACNA1H):c.5893G>A (p.Val1965Ile)
|
rs748947682
|
0.00003
|
NM_021098.3(CACNA1H):c.5944C>A (p.Pro1982Thr)
|
rs763018232
|
0.00003
|
NM_021098.3(CACNA1H):c.6038T>C (p.Leu2013Pro)
|
rs905456471
|
0.00003
|
NM_021098.3(CACNA1H):c.6193G>A (p.Ala2065Thr)
|
rs372558359
|
0.00003
|
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys)
|
rs774769004
|
0.00003
|
NM_021098.3(CACNA1H):c.6492G>T (p.Glu2164Asp)
|
rs768879342
|
0.00003
|
NM_021098.3(CACNA1H):c.6593C>T (p.Ala2198Val)
|
rs776473889
|
0.00003
|
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu)
|
rs765757800
|
0.00003
|
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys)
|
rs375586314
|
0.00003
|
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln)
|
rs775972605
|
0.00003
|
NM_021098.3(CACNA1H):c.851G>A (p.Gly284Asp)
|
rs767281564
|
0.00003
|
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=)
|
rs770821118
|
0.00003
|
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
|
rs775463083
|
0.00003
|
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter)
|
rs201193151
|
0.00003
|
NM_025136.4(OPA3):c.*3128C>G
|
rs143702010
|
0.00003
|
NM_031206.7(LAS1L):c.707C>T (p.Thr236Met)
|
rs145338657
|
0.00003
|
NM_031844.3(HNRNPU):c.157A>G (p.Met53Val)
|
rs770396451
|
0.00003
|
NM_031844.3(HNRNPU):c.1615-10T>C
|
rs193281914
|
0.00003
|
NM_032193.4(RNASEH2C):c.61T>C (p.Leu21=)
|
rs376140250
|
0.00003
|
NM_032737.4(LMNB2):c.395A>G (p.Asn132Ser)
|
rs780297843
|
0.00003
|
NM_032776.3(JMJD1C):c.6027G>T (p.Leu2009=)
|
rs567705184
|
0.00003
|
NM_080632.3(UPF3B):c.105G>A (p.Lys35=)
|
rs143487370
|
0.00003
|
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile)
|
rs201833722
|
0.00003
|
NM_080632.3(UPF3B):c.883T>C (p.Leu295=)
|
rs755087452
|
0.00003
|
NM_138959.3(VANGL1):c.518G>A (p.Arg173His)
|
rs148341022
|
0.00003
|
NM_139318.5(KCNH5):c.1201C>T (p.Arg401Cys)
|
rs753034623
|
0.00003
|
NM_139318.5(KCNH5):c.2215C>T (p.Arg739Cys)
|
rs372185345
|
0.00003
|
NM_152296.5(ATP1A3):c.2419-6G>A
|
rs180749411
|
0.00003
|
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn)
|
rs201965789
|
0.00003
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
NM_152743.4(BRAT1):c.1499-8C>T
|
rs370879134
|
0.00003
|
NM_152743.4(BRAT1):c.2052A>G (p.Pro684=)
|
rs775271322
|
0.00003
|
NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=)
|
rs150809651
|
0.00003
|
NM_172107.4(KCNQ2):c.515-9G>A
|
rs755243604
|
0.00003
|
NM_173354.5(SIK1):c.1060G>A (p.Ala354Thr)
|
rs753285222
|
0.00003
|
NM_173354.5(SIK1):c.1370A>C (p.Glu457Ala)
|
rs377535420
|
0.00003
|
NM_173354.5(SIK1):c.1379C>T (p.Thr460Met)
|
rs761262141
|
0.00003
|
NM_173354.5(SIK1):c.2014G>A (p.Gly672Ser)
|
rs751934560
|
0.00003
|
NM_173354.5(SIK1):c.2112G>A (p.Ser704=)
|
rs773124142
|
0.00003
|
NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr)
|
rs760602207
|
0.00003
|
NM_173354.5(SIK1):c.2243G>A (p.Arg748His)
|
rs375516507
|
0.00003
|
NM_173354.5(SIK1):c.273+8G>T
|
rs370279333
|
0.00003
|
NM_198578.4(LRRK2):c.5080C>T (p.Leu1694=)
|
rs746878736
|
0.00003
|
NM_199189.2(MATR3):c.-643A>G
|
rs765907489
|
0.00003
|
NM_203446.3(SYNJ1):c.2226T>A (p.Val742=)
|
rs566533509
|
0.00003
|
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=)
|
rs782095899
|
0.00002
|
NM_000033.4(ABCD1):c.1201C>A (p.Arg401=)
|
rs727503786
|
0.00002
|
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
|
rs782647014
|
0.00002
|
NM_000033.4(ABCD1):c.901-4G>A
|
rs782306934
|
0.00002
|
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)
|
rs374530062
|
0.00002
|
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile)
|
rs782058395
|
0.00002
|
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
|
rs1308442670
|
0.00002
|
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)
|
rs782602356
|
0.00002
|
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=)
|
rs781835541
|
0.00002
|
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)
|
rs374154862
|
0.00002
|
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
|
rs782250966
|
0.00002
|
NM_000052.7(ATP7A):c.4006-10C>T
|
rs782741784
|
0.00002
|
NM_000052.7(ATP7A):c.705A>C (p.Pro235=)
|
rs199608277
|
0.00002
|
NM_000061.3(BTK):c.1350-17C>A
|
rs563329397
|
0.00002
|
NM_000061.3(BTK):c.520+13A>G
|
rs201408619
|
0.00002
|
NM_000284.4(PDHA1):c.327C>T (p.Asn109=)
|
rs772943333
|
0.00002
|
NM_000284.4(PDHA1):c.759+9A>G
|
rs2643456
|
0.00002
|
NM_000330.4(RS1):c.185-3147C>T
|
rs376557374
|
0.00002
|
NM_000330.4(RS1):c.185-3151T>C
|
rs765535216
|
0.00002
|
NM_000330.4(RS1):c.185-3207G>A
|
rs587783161
|
0.00002
|
NM_000368.5(TSC1):c.*1052G>A
|
rs562950766
|
0.00002
|
NM_000368.5(TSC1):c.*4385G>T
|
rs552453527
|
0.00002
|
NM_000368.5(TSC1):c.-35G>A
|
rs370122384
|
0.00002
|
NM_000489.6(ATRX):c.114T>G (p.Leu38=)
|
rs201353033
|
0.00002
|
NM_000489.6(ATRX):c.1257G>A (p.Ala419=)
|
rs185550133
|
0.00002
|
NM_000489.6(ATRX):c.1441G>C (p.Glu481Gln)
|
rs782128777
|
0.00002
|
NM_000489.6(ATRX):c.1446A>C (p.Glu482Asp)
|
rs886044778
|
0.00002
|
NM_000489.6(ATRX):c.1666G>A (p.Val556Met)
|
rs782001042
|
0.00002
|
NM_000489.6(ATRX):c.2087G>C (p.Arg696Thr)
|
rs781967738
|
0.00002
|
NM_000489.6(ATRX):c.2174T>C (p.Val725Ala)
|
rs960922907
|
0.00002
|
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser)
|
rs782196312
|
0.00002
|
NM_000489.6(ATRX):c.2728A>G (p.Lys910Glu)
|
rs782016225
|
0.00002
|
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=)
|
rs782427169
|
0.00002
|
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val)
|
rs782062542
|
0.00002
|
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser)
|
rs201588422
|
0.00002
|
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser)
|
rs782293614
|
0.00002
|
NM_000489.6(ATRX):c.3962A>G (p.Asn1321Ser)
|
rs1440336962
|
0.00002
|
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)
|
rs1280555560
|
0.00002
|
NM_000489.6(ATRX):c.4699+9C>T
|
rs782140505
|
0.00002
|
NM_000489.6(ATRX):c.4866G>A (p.Ala1622=)
|
rs145036475
|
0.00002
|
NM_000489.6(ATRX):c.5184A>G (p.Ala1728=)
|
rs782211965
|
0.00002
|
NM_000489.6(ATRX):c.5493C>T (p.His1831=)
|
rs782508028
|
0.00002
|
NM_000489.6(ATRX):c.6327-18C>T
|
rs372246179
|
0.00002
|
NM_000489.6(ATRX):c.6924T>C (p.Tyr2308=)
|
rs139457986
|
0.00002
|
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=)
|
rs3027525
|
0.00002
|
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr)
|
rs147341551
|
0.00002
|
NM_000489.6(ATRX):c.7200+15G>A
|
rs372742045
|
0.00002
|
NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr)
|
rs782388992
|
0.00002
|
NM_000533.5(PLP1):c.191+17C>T
|
rs368688220
|
0.00002
|
NM_000533.5(PLP1):c.666C>T (p.Ser222=)
|
rs773350786
|
0.00002
|
NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys)
|
rs747283283
|
0.00002
|
NM_000702.4(ATP1A2):c.1572G>A (p.Glu524=)
|
rs775192056
|
0.00002
|
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=)
|
rs143969080
|
0.00002
|
NM_000702.4(ATP1A2):c.2943-19T>A
|
rs141966087
|
0.00002
|
NM_000742.4(CHRNA2):c.930C>T (p.Phe310=)
|
rs554976506
|
0.00002
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
NM_000834.5(GRIN2B):c.2172-9C>G
|
rs1555103671
|
0.00002
|
NM_000834.5(GRIN2B):c.3338C>T (p.Pro1113Leu)
|
rs766946947
|
0.00002
|
NM_000834.5(GRIN2B):c.3499G>A (p.Val1167Ile)
|
rs1042339
|
0.00002
|
NM_000834.5(GRIN2B):c.3514C>T (p.Pro1172Ser)
|
rs757924519
|
0.00002
|
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser)
|
rs371190262
|
0.00002
|
NM_000834.5(GRIN2B):c.52G>A (p.Val18Ile)
|
rs201094029
|
0.00002
|
NM_000834.5(GRIN2B):c.598G>C (p.Glu200Gln)
|
rs1196117849
|
0.00002
|
NM_001003800.2(BICD2):c.1534G>A (p.Val512Ile)
|
rs748921807
|
0.00002
|
NM_001010867.4(IBA57):c.342-7C>A
|
rs368007738
|
0.00002
|
NM_001029896.2(WDR45):c.131-8C>A
|
rs76591111
|
0.00002
|
NM_001029896.2(WDR45):c.20G>A (p.Arg7Gln)
|
rs782671518
|
0.00002
|
NM_001029896.2(WDR45):c.249C>T (p.Asp83=)
|
rs782706648
|
0.00002
|
NM_001029896.2(WDR45):c.870C>T (p.Tyr290=)
|
rs782557596
|
0.00002
|
NM_001029896.2(WDR45):c.981C>T (p.Cys327=)
|
rs200586468
|
0.00002
|
NM_001032221.6(STXBP1):c.1341C>T (p.Gly447=)
|
rs367980635
|
0.00002
|
NM_001040142.2(SCN2A):c.1479G>A (p.Leu493=)
|
rs182457234
|
0.00002
|
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=)
|
rs368043574
|
0.00002
|
NM_001040142.2(SCN2A):c.2175C>T (p.Cys725=)
|
rs768349308
|
0.00002
|
NM_001042432.2(CLN3):c.240G>A (p.Thr80=)
|
rs373911322
|
0.00002
|
NM_001044385.3(TMEM237):c.74+16A>G
|
rs538615771
|
0.00002
|
NM_001099922.3(ALG13):c.2012C>T (p.Pro671Leu)
|
rs770150113
|
0.00002
|
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser)
|
rs773286994
|
0.00002
|
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu)
|
rs745411126
|
0.00002
|
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala)
|
rs3027818
|
0.00002
|
NM_001099922.3(ALG13):c.360T>C (p.Gly120=)
|
rs747837898
|
0.00002
|
NM_001099922.3(ALG13):c.378C>T (p.Thr126=)
|
rs777042118
|
0.00002
|
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val)
|
rs373025706
|
0.00002
|
NM_001099922.3(ALG13):c.995A>G (p.Tyr332Cys)
|
rs370098098
|
0.00002
|
NM_001110556.2(FLNA):c.1180A>G (p.Ser394Gly)
|
rs371936356
|
0.00002
|
NM_001110556.2(FLNA):c.1224G>A (p.Thr408=)
|
rs1221446175
|
0.00002
|
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp)
|
rs863223644
|
0.00002
|
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr)
|
rs782698277
|
0.00002
|
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn)
|
rs782321294
|
0.00002
|
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)
|
rs1443563081
|
0.00002
|
NM_001110556.2(FLNA):c.1767C>T (p.Gly589=)
|
rs371909600
|
0.00002
|
NM_001110556.2(FLNA):c.1824G>A (p.Thr608=)
|
rs782114616
|
0.00002
|
NM_001110556.2(FLNA):c.1938C>T (p.His646=)
|
rs369037499
|
0.00002
|
NM_001110556.2(FLNA):c.1954G>A (p.Glu652Lys)
|
rs782043699
|
0.00002
|
NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys)
|
rs1380007907
|
0.00002
|
NM_001110556.2(FLNA):c.2065G>A (p.Val689Ile)
|
rs782116160
|
0.00002
|
NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu)
|
rs782278974
|
0.00002
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
NM_001110556.2(FLNA):c.2661C>T (p.Val887=)
|
rs781794634
|
0.00002
|
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys)
|
rs782580568
|
0.00002
|
NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile)
|
rs781884864
|
0.00002
|
NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe)
|
rs1557177797
|
0.00002
|
NM_001110556.2(FLNA):c.3369C>T (p.Ser1123=)
|
rs782475258
|
0.00002
|
NM_001110556.2(FLNA):c.3546A>G (p.Gln1182=)
|
rs782119340
|
0.00002
|
NM_001110556.2(FLNA):c.3755C>T (p.Ala1252Val)
|
rs782538253
|
0.00002
|
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn)
|
rs1557177584
|
0.00002
|
NM_001110556.2(FLNA):c.4044C>T (p.Pro1348=)
|
rs782525345
|
0.00002
|
NM_001110556.2(FLNA):c.4051G>A (p.Glu1351Lys)
|
rs782269355
|
0.00002
|
NM_001110556.2(FLNA):c.4158C>T (p.Gly1386=)
|
rs781868130
|
0.00002
|
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)
|
rs782129236
|
0.00002
|
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys)
|
rs1400230946
|
0.00002
|
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met)
|
rs782352193
|
0.00002
|
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=)
|
rs782152127
|
0.00002
|
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val)
|
rs12395634
|
0.00002
|
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=)
|
rs782253233
|
0.00002
|
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=)
|
rs781929535
|
0.00002
|
NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser)
|
rs1557176194
|
0.00002
|
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln)
|
rs1483960506
|
0.00002
|
NM_001110556.2(FLNA):c.6125C>T (p.Ser2042Leu)
|
rs782666380
|
0.00002
|
NM_001110556.2(FLNA):c.6503-9A>G
|
rs781919390
|
0.00002
|
NM_001110556.2(FLNA):c.652G>A (p.Ala218Thr)
|
rs782580503
|
0.00002
|
NM_001110556.2(FLNA):c.6908-14C>G
|
rs782486602
|
0.00002
|
NM_001110556.2(FLNA):c.7322G>A (p.Gly2441Asp)
|
rs1281469151
|
0.00002
|
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys)
|
rs782244918
|
0.00002
|
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)
|
rs781959191
|
0.00002
|
NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=)
|
rs781905890
|
0.00002
|
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile)
|
rs782291033
|
0.00002
|
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn)
|
rs782593788
|
0.00002
|
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)
|
rs782302420
|
0.00002
|
NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His)
|
rs782641074
|
0.00002
|
NM_001110792.2(MECP2):c.108A>G (p.Lys36=)
|
rs782202329
|
0.00002
|
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala)
|
rs61752373
|
0.00002
|
NM_001110792.2(MECP2):c.1317C>T (p.Asp439=)
|
rs374900442
|
0.00002
|
NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser)
|
rs267608622
|
0.00002
|
NM_001110792.2(MECP2):c.1325C>T (p.Pro442Leu)
|
rs930563451
|
0.00002
|
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr)
|
rs267608370
|
0.00002
|
NM_001110792.2(MECP2):c.189C>T (p.His63=)
|
rs267608432
|
0.00002
|
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg)
|
rs61754444
|
0.00002
|
NM_001110792.2(MECP2):c.413+18C>G
|
rs267608461
|
0.00002
|
NM_001110792.2(MECP2):c.414-6C>G
|
rs782482746
|
0.00002
|
NM_001110792.2(MECP2):c.414T>C (p.Asn138=)
|
rs782035249
|
0.00002
|
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser)
|
rs782419414
|
0.00002
|
NM_001110792.2(MECP2):c.645G>A (p.Thr215=)
|
rs61749722
|
0.00002
|
NM_001110792.2(MECP2):c.702C>G (p.Val234=)
|
rs61749735
|
0.00002
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001110792.2(MECP2):c.81C>T (p.Asp27=)
|
rs782168400
|
0.00002
|
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro)
|
rs61750257
|
0.00002
|
NM_001110792.2(MECP2):c.918A>G (p.Arg306=)
|
rs782744332
|
0.00002
|
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln)
|
rs202076203
|
0.00002
|
NM_001111125.3(IQSEC2):c.2088C>T (p.Asn696=)
|
rs1405711349
|
0.00002
|
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu)
|
rs782745696
|
0.00002
|
NM_001111125.3(IQSEC2):c.2175G>A (p.Pro725=)
|
rs781979737
|
0.00002
|
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln)
|
rs192071369
|
0.00002
|
NM_001111125.3(IQSEC2):c.2334G>A (p.Arg778=)
|
rs782564038
|
0.00002
|
NM_001111125.3(IQSEC2):c.2355G>A (p.Pro785=)
|
rs1327209801
|
0.00002
|
NM_001111125.3(IQSEC2):c.2811G>A (p.Gln937=)
|
rs781835138
|
0.00002
|
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser)
|
rs781808414
|
0.00002
|
NM_001111125.3(IQSEC2):c.3278-13G>C
|
rs782674949
|
0.00002
|
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=)
|
rs374220843
|
0.00002
|
NM_001111125.3(IQSEC2):c.3668C>T (p.Pro1223Leu)
|
rs1161354303
|
0.00002
|
NM_001111125.3(IQSEC2):c.3730C>T (p.His1244Tyr)
|
rs1290683569
|
0.00002
|
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys)
|
rs957057964
|
0.00002
|
NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu)
|
rs1556858927
|
0.00002
|
NM_001127222.2(CACNA1A):c.1556-17C>T
|
rs755361841
|
0.00002
|
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=)
|
rs371757002
|
0.00002
|
NM_001127222.2(CACNA1A):c.5731+14del
|
rs762645821
|
0.00002
|
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu)
|
rs539347883
|
0.00002
|
NM_001127644.2(GABRA1):c.1146C>T (p.Gly382=)
|
rs79593368
|
0.00002
|
NM_001127644.2(GABRA1):c.699T>C (p.Ser233=)
|
rs756876744
|
0.00002
|
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser)
|
rs201947293
|
0.00002
|
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys)
|
rs767067922
|
0.00002
|
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=)
|
rs777441722
|
0.00002
|
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)
|
rs746824729
|
0.00002
|
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu)
|
rs753515426
|
0.00002
|
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=)
|
rs775886527
|
0.00002
|
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=)
|
rs745750589
|
0.00002
|
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=)
|
rs374893683
|
0.00002
|
NM_001130823.3(DNMT1):c.4554C>T (p.His1518=)
|
rs753248212
|
0.00002
|
NM_001134407.3(GRIN2A):c.1629C>T (p.Thr543=)
|
rs758378272
|
0.00002
|
NM_001134407.3(GRIN2A):c.2695C>T (p.Arg899Trp)
|
rs796052553
|
0.00002
|
NM_001134407.3(GRIN2A):c.2907C>G (p.Asn969Lys)
|
rs772589363
|
0.00002
|
NM_001134407.3(GRIN2A):c.2908C>T (p.Arg970Trp)
|
rs765257420
|
0.00002
|
NM_001134407.3(GRIN2A):c.3192G>A (p.Thr1064=)
|
rs748790515
|
0.00002
|
NM_001160148.2(DDHD1):c.1890G>A (p.Ala630=)
|
rs546774166
|
0.00002
|
NM_001161352.2(KCNMA1):c.3462-10C>T
|
rs559764920
|
0.00002
|
NM_001165963.4(SCN1A):c.1641G>T (p.Lys547Asn)
|
rs550770894
|
0.00002
|
NM_001165963.4(SCN1A):c.1652C>T (p.Ser551Phe)
|
rs1396476288
|
0.00002
|
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=)
|
rs375896308
|
0.00002
|
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)
|
rs1260685558
|
0.00002
|
NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=)
|
rs369650500
|
0.00002
|
NM_001166114.2(PNPLA6):c.4024-11T>G
|
rs752929790
|
0.00002
|
NM_001172509.2(SATB2):c.121A>G (p.Met41Val)
|
rs919635073
|
0.00002
|
NM_001172509.2(SATB2):c.2048C>T (p.Ala683Val)
|
rs1451743452
|
0.00002
|
NM_001172509.2(SATB2):c.2135A>G (p.Lys712Arg)
|
rs999561200
|
0.00002
|
NM_001172509.2(SATB2):c.568A>T (p.Thr190Ser)
|
rs1333077167
|
0.00002
|
NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr)
|
rs773467832
|
0.00002
|
NM_001199107.2(TBC1D24):c.965+11G>A
|
rs568663296
|
0.00002
|
NM_001242896.3(DEPDC5):c.2171-15dup
|
rs765158089
|
0.00002
|
NM_001242896.3(DEPDC5):c.2286C>T (p.Asp762=)
|
rs200465447
|
0.00002
|
NM_001244008.2(KIF1A):c.2344A>G (p.Lys782Glu)
|
rs569071678
|
0.00002
|
NM_001244008.2(KIF1A):c.3721G>A (p.Glu1241Lys)
|
rs770190085
|
0.00002
|
NM_001244008.2(KIF1A):c.3816+9C>T
|
rs527731125
|
0.00002
|
NM_001244008.2(KIF1A):c.4142C>T (p.Pro1381Leu)
|
rs766841187
|
0.00002
|
NM_001244008.2(KIF1A):c.423C>T (p.Ser141=)
|
rs565992344
|
0.00002
|
NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=)
|
rs199804961
|
0.00002
|
NM_001257291.2(SLC9A7):c.1059A>G (p.Lys353=)
|
rs750488234
|
0.00002
|
NM_001271.4(CHD2):c.1170A>G (p.Lys390=)
|
rs1342167975
|
0.00002
|
NM_001271.4(CHD2):c.529G>A (p.Ala177Thr)
|
rs776393356
|
0.00002
|
NM_001271.4(CHD2):c.854C>T (p.Ala285Val)
|
rs544867753
|
0.00002
|
NM_001288705.3(CSF1R):c.*221C>T
|
rs574587482
|
0.00002
|
NM_001288705.3(CSF1R):c.*500C>T
|
rs138905856
|
0.00002
|
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206
|
0.00002
|
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=)
|
rs777079786
|
0.00002
|
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln)
|
rs267608436
|
0.00002
|
NM_001323289.2(CDKL5):c.2581C>T (p.Pro861Ser)
|
rs1430214724
|
0.00002
|
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala)
|
rs751995225
|
0.00002
|
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp)
|
rs761336234
|
0.00002
|
NM_001330260.2(SCN8A):c.2118T>C (p.Asn706=)
|
rs555404940
|
0.00002
|
NM_001330260.2(SCN8A):c.2902-9C>T
|
rs773347806
|
0.00002
|
NM_001330723.2(SNX27):c.1578+118G>A
|
rs143574605
|
0.00002
|
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)
|
rs759524625
|
0.00002
|
NM_001347721.2(DYRK1A):c.1564C>T (p.Pro522Ser)
|
rs757603372
|
0.00002
|
NM_001347721.2(DYRK1A):c.1702G>C (p.Val568Leu)
|
rs771373401
|
0.00002
|
NM_001347721.2(DYRK1A):c.1852C>T (p.Arg618Trp)
|
rs758367401
|
0.00002
|
NM_001347721.2(DYRK1A):c.241A>G (p.Thr81Ala)
|
rs767489712
|
0.00002
|
NM_001347721.2(DYRK1A):c.300+9T>C
|
rs187183665
|
0.00002
|
NM_001350451.2(RBFOX3):c.10C>A (p.Pro4Thr)
|
rs368372440
|
0.00002
|
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=)
|
rs782666474
|
0.00002
|
NM_001371596.2(MFSD8):c.553+20C>T
|
rs542955531
|
0.00002
|
NM_001371727.1(GABRB2):c.1160G>A (p.Arg387Gln)
|
rs369113102
|
0.00002
|
NM_001378120.1(MBD5):c.1377A>G (p.Arg459=)
|
rs762047019
|
0.00002
|
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro)
|
rs200395037
|
0.00002
|
NM_001378452.1(ITPR1):c.-244G>A
|
rs577585180
|
0.00002
|
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=)
|
rs563347395
|
0.00002
|
NM_001429.4(EP300):c.2334A>G (p.Thr778=)
|
rs374281264
|
0.00002
|
NM_001845.6(COL4A1):c.3082C>T (p.Pro1028Ser)
|
rs778680549
|
0.00002
|
NM_001846.4(COL4A2):c.1914C>T (p.Ala638=)
|
rs779939063
|
0.00002
|
NM_001846.4(COL4A2):c.2095+9C>T
|
rs369918222
|
0.00002
|
NM_001846.4(COL4A2):c.257G>A (p.Arg86His)
|
rs751272301
|
0.00002
|
NM_001958.5(EEF1A2):c.72G>A (p.Thr24=)
|
rs746094472
|
0.00002
|
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315
|
0.00002
|
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)
|
rs765124485
|
0.00002
|
NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr)
|
rs768749706
|
0.00002
|
NM_002641.4(PIGA):c.1188+4T>C
|
rs751261624
|
0.00002
|
NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln)
|
rs769061128
|
0.00002
|
NM_002641.4(PIGA):c.307G>A (p.Ala103Thr)
|
rs777795093
|
0.00002
|
NM_002641.4(PIGA):c.369G>A (p.Thr123=)
|
rs766304305
|
0.00002
|
NM_002641.4(PIGA):c.43G>A (p.Ala15Thr)
|
rs369608621
|
0.00002
|
NM_002778.4(PSAP):c.10C>G (p.Leu4Val)
|
rs574280149
|
0.00002
|
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)
|
rs754680319
|
0.00002
|
NM_003000.3(SDHB):c.765+13G>A
|
rs115561881
|
0.00002
|
NM_003042.4(SLC6A1):c.1738C>T (p.Pro580Ser)
|
rs747243516
|
0.00002
|
NM_003042.4(SLC6A1):c.1766C>T (p.Ala589Val)
|
rs781158800
|
0.00002
|
NM_003042.4(SLC6A1):c.238+14C>T
|
rs138505143
|
0.00002
|
NM_003042.4(SLC6A1):c.584G>A (p.Arg195His)
|
rs773445048
|
0.00002
|
NM_003042.4(SLC6A1):c.864G>A (p.Ala288=)
|
rs776690821
|
0.00002
|
NM_003042.4(SLC6A1):c.993C>T (p.Ser331=)
|
rs376992822
|
0.00002
|
NM_003042.4(SLC6A1):c.999C>T (p.Phe333=)
|
rs138166453
|
0.00002
|
NM_003070.5(SMARCA2):c.3939C>T (p.Asp1313=)
|
rs745662991
|
0.00002
|
NM_003070.5(SMARCA2):c.4736G>A (p.Arg1579His)
|
rs138760068
|
0.00002
|
NM_003072.5(SMARCA4):c.2123+13G>A
|
rs373148510
|
0.00002
|
NM_003072.5(SMARCA4):c.2617-4G>A
|
rs201020451
|
0.00002
|
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=)
|
rs182644267
|
0.00002
|
NM_003265.3(TLR3):c.1683G>A (p.Leu561=)
|
rs571300094
|
0.00002
|
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln)
|
rs1261345480
|
0.00002
|
NM_003334.4(UBA1):c.1173T>C (p.Ala391=)
|
rs781783732
|
0.00002
|
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg)
|
rs888369922
|
0.00002
|
NM_003334.4(UBA1):c.1485G>A (p.Gly495=)
|
rs782721809
|
0.00002
|
NM_003334.4(UBA1):c.1818T>C (p.Asn606=)
|
rs782565505
|
0.00002
|
NM_003334.4(UBA1):c.210C>T (p.Leu70=)
|
rs191969626
|
0.00002
|
NM_003334.4(UBA1):c.2460T>C (p.Ser820=)
|
rs782208544
|
0.00002
|
NM_003334.4(UBA1):c.2724G>A (p.Glu908=)
|
rs376593996
|
0.00002
|
NM_003334.4(UBA1):c.2928C>T (p.Leu976=)
|
rs782070102
|
0.00002
|
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu)
|
rs1185350232
|
0.00002
|
NM_003334.4(UBA1):c.486G>A (p.Val162=)
|
rs370643219
|
0.00002
|
NM_003719.5(PDE8B):c.1560G>A (p.Glu520=)
|
rs199820842
|
0.00002
|
NM_003719.5(PDE8B):c.1921G>A (p.Asp641Asn)
|
rs539447103
|
0.00002
|
NM_003719.5(PDE8B):c.593C>T (p.Ser198Leu)
|
rs377536938
|
0.00002
|
NM_003977.4(AIP):c.366C>T (p.Cys122=)
|
rs748883061
|
0.00002
|
NM_004035.7(ACOX1):c.867T>C (p.Ala289=)
|
rs370001667
|
0.00002
|
NM_004082.5(DCTN1):c.1702-7C>T
|
rs554887316
|
0.00002
|
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=)
|
rs146094433
|
0.00002
|
NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln)
|
rs138277996
|
0.00002
|
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)
|
rs587783474
|
0.00002
|
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)
|
rs762638591
|
0.00002
|
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met)
|
rs1064793090
|
0.00002
|
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val)
|
rs190153828
|
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_004408.4(DNM1):c.1401C>T (p.Arg467=)
|
rs527820256
|
0.00002
|
NM_004408.4(DNM1):c.1662G>A (p.Lys554=)
|
rs371589347
|
0.00002
|
NM_004408.4(DNM1):c.1886G>A (p.Arg629His)
|
rs778378392
|
0.00002
|
NM_004408.4(DNM1):c.1933G>A (p.Asp645Asn)
|
rs754501788
|
0.00002
|
NM_004408.4(DNM1):c.261G>A (p.Lys87=)
|
rs377178808
|
0.00002
|
NM_004519.4(KCNQ3):c.1707T>C (p.Asp569=)
|
rs748374858
|
0.00002
|
NM_004519.4(KCNQ3):c.2071G>A (p.Gly691Ser)
|
rs747379988
|
0.00002
|
NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=)
|
rs778140223
|
0.00002
|
NM_004722.4(AP4M1):c.68A>G (p.Asp23Gly)
|
rs767849761
|
0.00002
|
NM_004813.4(PEX16):c.694+11C>T
|
rs763840804
|
0.00002
|
NM_004960.4(FUS):c.*10C>T
|
rs529269129
|
0.00002
|
NM_004975.4(KCNB1):c.1640C>T (p.Thr547Ile)
|
rs896349825
|
0.00002
|
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His)
|
rs544069848
|
0.00002
|
NM_004975.4(KCNB1):c.2135C>T (p.Thr712Met)
|
rs775588653
|
0.00002
|
NM_004975.4(KCNB1):c.2152G>A (p.Val718Met)
|
rs774976039
|
0.00002
|
NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln)
|
rs151175979
|
0.00002
|
NM_004975.4(KCNB1):c.2248G>A (p.Ala750Thr)
|
rs758332295
|
0.00002
|
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn)
|
rs774502328
|
0.00002
|
NM_005045.4(RELN):c.1278C>T (p.Ser426=)
|
rs755465811
|
0.00002
|
NM_005045.4(RELN):c.1880A>G (p.Glu627Gly)
|
rs779007436
|
0.00002
|
NM_005045.4(RELN):c.1915C>A (p.Leu639Ile)
|
rs150988816
|
0.00002
|
NM_005045.4(RELN):c.4296A>G (p.Gly1432=)
|
rs757003273
|
0.00002
|
NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro)
|
rs566580675
|
0.00002
|
NM_005076.5(CNTN2):c.2964G>A (p.Gly988=)
|
rs566959580
|
0.00002
|
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn)
|
rs773615925
|
0.00002
|
NM_005120.3(MED12):c.1170C>T (p.Thr390=)
|
rs772236514
|
0.00002
|
NM_005120.3(MED12):c.1332C>T (p.Cys444=)
|
rs746205041
|
0.00002
|
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys)
|
rs764981858
|
0.00002
|
NM_005120.3(MED12):c.2202C>T (p.Tyr734=)
|
rs1366328614
|
0.00002
|
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr)
|
rs199860580
|
0.00002
|
NM_005120.3(MED12):c.2686-15C>T
|
rs200842589
|
0.00002
|
NM_005120.3(MED12):c.3355-16C>G
|
rs201933970
|
0.00002
|
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)
|
rs202120461
|
0.00002
|
NM_005120.3(MED12):c.380C>T (p.Thr127Met)
|
rs775072642
|
0.00002
|
NM_005120.3(MED12):c.4077T>G (p.Ser1359=)
|
rs902073429
|
0.00002
|
NM_005120.3(MED12):c.4161C>T (p.Ile1387=)
|
rs776947543
|
0.00002
|
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn)
|
rs759532414
|
0.00002
|
NM_005120.3(MED12):c.4253+16G>A
|
rs185066241
|
0.00002
|
NM_005120.3(MED12):c.4299T>C (p.Ala1433=)
|
rs763359998
|
0.00002
|
NM_005120.3(MED12):c.4380T>C (p.Ser1460=)
|
rs377119772
|
0.00002
|
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)
|
rs748453083
|
0.00002
|
NM_005120.3(MED12):c.4863+16G>A
|
rs745396813
|
0.00002
|
NM_005120.3(MED12):c.5561G>A (p.Arg1854His)
|
rs759125296
|
0.00002
|
NM_005120.3(MED12):c.981G>A (p.Thr327=)
|
rs769757456
|
0.00002
|
NM_005249.5(FOXG1):c.418G>A (p.Val140Ile)
|
rs1400545711
|
0.00002
|
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)
|
rs398124206
|
0.00002
|
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)
|
rs782244636
|
0.00002
|
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)
|
rs371411952
|
0.00002
|
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=)
|
rs782332238
|
0.00002
|
NM_005334.3(HCFC1):c.4275C>T (p.His1425=)
|
rs782707963
|
0.00002
|
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met)
|
rs781961897
|
0.00002
|
NM_005334.3(HCFC1):c.4497+4A>G
|
rs782206577
|
0.00002
|
NM_005334.3(HCFC1):c.5261-17A>G
|
rs782143370
|
0.00002
|
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=)
|
rs782063013
|
0.00002
|
NM_005359.6(SMAD4):c.*5080A>G
|
rs532965680
|
0.00002
|
NM_005465.7(AKT3):c.1163+16C>T
|
rs781443210
|
0.00002
|
NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn)
|
rs150504258
|
0.00002
|
NM_005629.4(SLC6A8):c.1080C>T (p.Phe360=)
|
rs782576449
|
0.00002
|
NM_005629.4(SLC6A8):c.1293C>T (p.Asp431=)
|
rs371599516
|
0.00002
|
NM_005629.4(SLC6A8):c.1395C>T (p.Gly465=)
|
rs782302903
|
0.00002
|
NM_005629.4(SLC6A8):c.1620G>A (p.Val540=)
|
rs781947969
|
0.00002
|
NM_005629.4(SLC6A8):c.1879A>C (p.Lys627Gln)
|
rs201637740
|
0.00002
|
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=)
|
rs202136567
|
0.00002
|
NM_005629.4(SLC6A8):c.852C>T (p.Gly284=)
|
rs1557044971
|
0.00002
|
NM_006516.4(SLC2A1):c.*285C>T
|
rs144947295
|
0.00002
|
NM_006516.4(SLC2A1):c.1278+9C>G
|
rs550156548
|
0.00002
|
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)
|
rs201996220
|
0.00002
|
NM_006612.6(KIF1C):c.1336-10A>T
|
rs543096465
|
0.00002
|
NM_006772.3(SYNGAP1):c.2830G>A (p.Gly944Ser)
|
rs765718674
|
0.00002
|
NM_006772.3(SYNGAP1):c.2900G>A (p.Arg967Gln)
|
rs557096495
|
0.00002
|
NM_006772.3(SYNGAP1):c.3160G>A (p.Gly1054Ser)
|
rs774066129
|
0.00002
|
NM_006772.3(SYNGAP1):c.3181G>T (p.Gly1061Cys)
|
rs753645263
|
0.00002
|
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala)
|
rs777482147
|
0.00002
|
NM_006772.3(SYNGAP1):c.3397A>G (p.Ile1133Val)
|
rs746524469
|
0.00002
|
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)
|
rs747376669
|
0.00002
|
NM_007126.5(VCP):c.2214A>G (p.Glu738=)
|
rs374391034
|
0.00002
|
NM_007126.5(VCP):c.812-7C>G
|
rs764429197
|
0.00002
|
NM_007375.4(TARDBP):c.238+9C>T
|
rs376560308
|
0.00002
|
NM_012338.4(TSPAN12):c.484G>A (p.Val162Ile)
|
rs774728139
|
0.00002
|
NM_013275.6(ANKRD11):c.4404A>G (p.Lys1468=)
|
rs745469592
|
0.00002
|
NM_013275.6(ANKRD11):c.7569+14C>A
|
rs758994547
|
0.00002
|
NM_014324.6(AMACR):c.248-18C>T
|
rs534775074
|
0.00002
|
NM_014334.3(FRRS1L):c.1A>T (p.Met1Leu)
|
rs527415212
|
0.00002
|
NM_014365.3(HSPB8):c.48G>A (p.Leu16=)
|
rs755586270
|
0.00002
|
NM_014795.4(ZEB2):c.1336C>T (p.Pro446Ser)
|
rs1435380197
|
0.00002
|
NM_014795.4(ZEB2):c.1354A>G (p.Thr452Ala)
|
rs781770369
|
0.00002
|
NM_014795.4(ZEB2):c.220G>A (p.Val74Met)
|
rs767169568
|
0.00002
|
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val)
|
rs730881178
|
0.00002
|
NM_014795.4(ZEB2):c.2248A>G (p.Ser750Gly)
|
rs730881196
|
0.00002
|
NM_014795.4(ZEB2):c.2479C>T (p.Pro827Ser)
|
rs780045123
|
0.00002
|
NM_014795.4(ZEB2):c.2993T>C (p.Met998Thr)
|
rs553833674
|
0.00002
|
NM_014795.4(ZEB2):c.357T>G (p.Thr119=)
|
rs776250942
|
0.00002
|
NM_014795.4(ZEB2):c.55A>T (p.Asn19Tyr)
|
rs967864705
|
0.00002
|
NM_014795.4(ZEB2):c.981G>A (p.Ser327=)
|
rs201579452
|
0.00002
|
NM_014946.4(SPAST):c.828T>C (p.Ser276=)
|
rs77525846
|
0.00002
|
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
|
rs773193617
|
0.00002
|
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)
|
rs779544809
|
0.00002
|
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala)
|
rs1481664998
|
0.00002
|
NM_015046.7(SETX):c.2395C>T (p.His799Tyr)
|
rs200459144
|
0.00002
|
NM_015046.7(SETX):c.2425A>G (p.Ile809Val)
|
rs906452681
|
0.00002
|
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr)
|
rs765768857
|
0.00002
|
NM_015046.7(SETX):c.343C>G (p.Leu115Val)
|
rs538372427
|
0.00002
|
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)
|
rs138167195
|
0.00002
|
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu)
|
rs773081186
|
0.00002
|
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)
|
rs747804357
|
0.00002
|
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr)
|
rs202047872
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
NM_015046.7(SETX):c.477T>A (p.Phe159Leu)
|
rs1473646250
|
0.00002
|
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
|
rs764316153
|
0.00002
|
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)
|
rs200433173
|
0.00002
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)
|
rs747913385
|
0.00002
|
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)
|
rs745394467
|
0.00002
|
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr)
|
rs537457768
|
0.00002
|
NM_015192.4(PLCB1):c.2308+14G>C
|
rs768572485
|
0.00002
|
NM_015214.3(DDHD2):c.375T>C (p.Tyr125=)
|
rs201640343
|
0.00002
|
NM_015294.6(TRIM37):c.-236A>G
|
rs371575547
|
0.00002
|
NM_015316.3(PPP1R13B):c.215G>A (p.Arg72Gln)
|
rs863223358
|
0.00002
|
NM_015338.6(ASXL1):c.3273C>T (p.Ala1091=)
|
rs377353179
|
0.00002
|
NM_015915.5(ATL1):c.1458C>T (p.Ile486=)
|
rs200825678
|
0.00002
|
NM_016032.4(ZDHHC9):c.674+11C>T
|
rs370687569
|
0.00002
|
NM_016169.4(SUFU):c.911-16A>C
|
rs777832144
|
0.00002
|
NM_017882.3(CLN6):c.*725C>T
|
rs369225795
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_018026.4(PACS1):c.1457G>A (p.Ser486Asn)
|
rs770126115
|
0.00002
|
NM_018026.4(PACS1):c.1838+3A>G
|
rs775980710
|
0.00002
|
NM_018026.4(PACS1):c.684C>T (p.Gly228=)
|
rs548594376
|
0.00002
|
NM_018834.6(MATR3):c.69G>A (p.Ala23=)
|
rs750693851
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-10C>T
|
rs201656051
|
0.00002
|
NM_020988.3(GNAO1):c.310G>A (p.Ala104Thr)
|
rs375429245
|
0.00002
|
NM_021098.3(CACNA1H):c.1001G>A (p.Arg334His)
|
rs964941206
|
0.00002
|
NM_021098.3(CACNA1H):c.1006G>A (p.Ala336Thr)
|
rs754161411
|
0.00002
|
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn)
|
rs375121203
|
0.00002
|
NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met)
|
rs61910721
|
0.00002
|
NM_021098.3(CACNA1H):c.1501G>A (p.Gly501Arg)
|
rs748811873
|
0.00002
|
NM_021098.3(CACNA1H):c.1632C>T (p.Gly544=)
|
rs1040617300
|
0.00002
|
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val)
|
rs757893642
|
0.00002
|
NM_021098.3(CACNA1H):c.1821G>T (p.Gly607=)
|
rs187675719
|
0.00002
|
NM_021098.3(CACNA1H):c.2129C>T (p.Pro710Leu)
|
rs547373648
|
0.00002
|
NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu)
|
rs768306211
|
0.00002
|
NM_021098.3(CACNA1H):c.2173C>T (p.Arg725Cys)
|
rs764438301
|
0.00002
|
NM_021098.3(CACNA1H):c.2177G>T (p.Gly726Val)
|
rs1433384279
|
0.00002
|
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His)
|
rs781343756
|
0.00002
|
NM_021098.3(CACNA1H):c.3185C>T (p.Pro1062Leu)
|
rs1245328322
|
0.00002
|
NM_021098.3(CACNA1H):c.322C>G (p.Leu108Val)
|
rs746135723
|
0.00002
|
NM_021098.3(CACNA1H):c.3310C>T (p.Arg1104Trp)
|
rs1198273560
|
0.00002
|
NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His)
|
rs369475886
|
0.00002
|
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr)
|
rs375742212
|
0.00002
|
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn)
|
rs754581272
|
0.00002
|
NM_021098.3(CACNA1H):c.3768A>G (p.Lys1256=)
|
rs1232013182
|
0.00002
|
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln)
|
rs557125328
|
0.00002
|
NM_021098.3(CACNA1H):c.3850C>T (p.Arg1284Cys)
|
rs541678072
|
0.00002
|
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile)
|
rs761199543
|
0.00002
|
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys)
|
rs776740325
|
0.00002
|
NM_021098.3(CACNA1H):c.41C>T (p.Pro14Leu)
|
rs1263557227
|
0.00002
|
NM_021098.3(CACNA1H):c.4224-11C>T
|
rs371952675
|
0.00002
|
NM_021098.3(CACNA1H):c.5980C>T (p.Pro1994Ser)
|
rs1014679279
|
0.00002
|
NM_021098.3(CACNA1H):c.6257C>G (p.Pro2086Arg)
|
rs563954985
|
0.00002
|
NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=)
|
rs372118811
|
0.00002
|
NM_021098.3(CACNA1H):c.6346G>A (p.Glu2116Lys)
|
rs768078771
|
0.00002
|
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His)
|
rs752385455
|
0.00002
|
NM_021098.3(CACNA1H):c.6544C>T (p.Arg2182Cys)
|
rs1244507563
|
0.00002
|
NM_021098.3(CACNA1H):c.6590C>T (p.Pro2197Leu)
|
rs770865543
|
0.00002
|
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu)
|
rs754398374
|
0.00002
|
NM_021098.3(CACNA1H):c.6624G>A (p.Ala2208=)
|
rs770681199
|
0.00002
|
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys)
|
rs761083620
|
0.00002
|
NM_021098.3(CACNA1H):c.6677C>T (p.Thr2226Met)
|
rs751787751
|
0.00002
|
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp)
|
rs770202267
|
0.00002
|
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu)
|
rs778943919
|
0.00002
|
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)
|
rs760918600
|
0.00002
|
NM_021098.3(CACNA1H):c.6964C>T (p.Arg2322Trp)
|
rs987712309
|
0.00002
|
NM_021098.3(CACNA1H):c.793G>A (p.Ala265Thr)
|
rs768878179
|
0.00002
|
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu)
|
rs372848579
|
0.00002
|
NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met)
|
rs774565789
|
0.00002
|
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln)
|
rs377665479
|
0.00002
|
NM_021098.3(CACNA1H):c.922C>T (p.Arg308Cys)
|
rs764910199
|
0.00002
|
NM_021120.4(DLG3):c.1280G>A (p.Arg427His)
|
rs775293712
|
0.00002
|
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)
|
rs758280554
|
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_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_025137.4(SPG11):c.732C>T (p.Asp244=)
|
rs745572647
|
0.00002
|
NM_031206.7(LAS1L):c.1927+9del
|
rs774312008
|
0.00002
|
NM_031448.6(C19orf12):c.*944A>G
|
rs549030034
|
0.00002
|
NM_031844.3(HNRNPU):c.2204A>G (p.Asn735Ser)
|
rs1254900423
|
0.00002
|
NM_031844.3(HNRNPU):c.2424+16T>C
|
rs537512846
|
0.00002
|
NM_031844.3(HNRNPU):c.692-14C>T
|
rs201729220
|
0.00002
|
NM_032193.4(RNASEH2C):c.*572C>T
|
rs200332583
|
0.00002
|
NM_032737.4(LMNB2):c.1711-3C>T
|
rs777181580
|
0.00002
|
NM_032776.3(JMJD1C):c.2514G>A (p.Gln838=)
|
rs373568855
|
0.00002
|
NM_032776.3(JMJD1C):c.3588A>T (p.Thr1196=)
|
rs568159160
|
0.00002
|
NM_032776.3(JMJD1C):c.4137T>C (p.Ser1379=)
|
rs553383426
|
0.00002
|
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala)
|
rs368916151
|
0.00002
|
NM_052874.5(STX1B):c.861C>T (p.Gly287=)
|
rs775117894
|
0.00002
|
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val)
|
rs147945173
|
0.00002
|
NM_139058.3(ARX):c.1524G>A (p.Val508=)
|
rs1056460685
|
0.00002
|
NM_139058.3(ARX):c.300G>A (p.Ala100=)
|
rs797045294
|
0.00002
|
NM_139058.3(ARX):c.361C>A (p.Pro121Thr)
|
rs1308958274
|
0.00002
|
NM_139318.5(KCNH5):c.1436A>G (p.Asn479Ser)
|
rs1887768573
|
0.00002
|
NM_139318.5(KCNH5):c.2557G>A (p.Val853Met)
|
rs140331213
|
0.00002
|
NM_139318.5(KCNH5):c.766G>A (p.Val256Ile)
|
rs756506083
|
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_152309.3(PIK3AP1):c.2343G>A (p.Pro781=)
|
rs539458415
|
0.00002
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
NM_152743.4(BRAT1):c.560C>G (p.Pro187Arg)
|
rs551655837
|
0.00002
|
NM_153252.5(BRWD3):c.3939G>A (p.Leu1313=)
|
rs765601278
|
0.00002
|
NM_153252.5(BRWD3):c.957C>A (p.Val319=)
|
rs746783547
|
0.00002
|
NM_173354.5(SIK1):c.1782G>A (p.Thr594=)
|
rs548640382
|
0.00002
|
NM_173354.5(SIK1):c.2045C>T (p.Ala682Val)
|
rs1362078144
|
0.00002
|
NM_173354.5(SIK1):c.907G>A (p.Asp303Asn)
|
rs769181075
|
0.00002
|
NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp)
|
rs373828657
|
0.00002
|
NM_173728.4(ARHGEF15):c.1873-5C>T
|
rs752190951
|
0.00002
|
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu)
|
rs746999375
|
0.00002
|
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=)
|
rs529673803
|
0.00002
|
NM_198578.4(LRRK2):c.5385G>A (p.Leu1795=)
|
rs111910483
|
0.00002
|
NM_198904.4(GABRG2):c.582G>A (p.Leu194=)
|
rs781498456
|
0.00002
|
NM_205836.3(FBXO38):c.2858-18A>G
|
rs376871117
|
0.00002
|
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val)
|
rs1398951357
|
0.00001
|
NM_000030.3(AGXT):c.537G>C (p.Leu179=)
|
rs565927450
|
0.00001
|
NM_000033.4(ABCD1):c.1182G>A (p.Ala394=)
|
rs782515233
|
0.00001
|
NM_000033.4(ABCD1):c.1391G>A (p.Arg464Gln)
|
rs138902450
|
0.00001
|
NM_000033.4(ABCD1):c.1443C>T (p.Ile481=)
|
rs782704819
|
0.00001
|
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)
|
rs782546330
|
0.00001
|
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)
|
rs76180859
|
0.00001
|
NM_000033.4(ABCD1):c.225C>T (p.Leu75=)
|
rs781883009
|
0.00001
|
NM_000033.4(ABCD1):c.729C>G (p.Pro243=)
|
rs1557052503
|
0.00001
|
NM_000044.6(AR):c.2191G>A (p.Val731Met)
|
rs137852571
|
0.00001
|
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=)
|
rs782744809
|
0.00001
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
|
rs377651753
|
0.00001
|
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)
|
rs1557231562
|
0.00001
|
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)
|
rs781874593
|
0.00001
|
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)
|
rs879254156
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala)
|
rs1023683992
|
0.00001
|
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly)
|
rs782154314
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln)
|
rs782260602
|
0.00001
|
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=)
|
rs782505602
|
0.00001
|
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
|
rs368091927
|
0.00001
|
NM_000061.3(BTK):c.240+7A>C
|
rs782299012
|
0.00001
|
NM_000061.3(BTK):c.520+16G>A
|
rs782819971
|
0.00001
|
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu)
|
rs539146732
|
0.00001
|
NM_000081.4(LYST):c.6216A>G (p.Val2072=)
|
rs371248013
|
0.00001
|
NM_000096.4(CP):c.2611G>A (p.Asp871Asn)
|
rs529607771
|
0.00001
|
NM_000098.3(CPT2):c.1851T>C (p.His617=)
|
rs540322467
|
0.00001
|
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)
|
rs555776146
|
0.00001
|
NM_000170.3(GLDC):c.63C>A (p.Arg21=)
|
rs372141443
|
0.00001
|
NM_000170.3(GLDC):c.861+10C>T
|
rs565335444
|
0.00001
|
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)
|
rs147510382
|
0.00001
|
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=)
|
rs749696135
|
0.00001
|
NM_000284.4(PDHA1):c.292-11C>T
|
rs776535833
|
0.00001
|
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
|
rs769308417
|
0.00001
|
NM_000284.4(PDHA1):c.899+10T>C
|
rs1471723235
|
0.00001
|
NM_000330.4(RS1):c.185-3137C>A
|
rs767312604
|
0.00001
|
NM_000330.4(RS1):c.185-3176C>T
|
rs747799506
|
0.00001
|
NM_000330.4(RS1):c.185-3280G>A
|
rs181859624
|
0.00001
|
NM_000368.5(TSC1):c.*651C>G
|
rs369911288
|
0.00001
|
NM_000368.5(TSC1):c.1002G>A (p.Ser334=)
|
rs200820603
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr)
|
rs754457018
|
0.00001
|
NM_000370.3(TTPA):c.471C>A (p.Ile157=)
|
rs572263038
|
0.00001
|
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro)
|
rs576803491
|
0.00001
|
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=)
|
rs572970359
|
0.00001
|
NM_000484.4(APP):c.355+16G>A
|
rs201791126
|
0.00001
|
NM_000487.6(ARSA):c.558C>T (p.Asn186=)
|
rs574416131
|
0.00001
|
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu)
|
rs1557142408
|
0.00001
|
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile)
|
rs782751824
|
0.00001
|
NM_000489.6(ATRX):c.177C>T (p.Asn59=)
|
rs782250182
|
0.00001
|
NM_000489.6(ATRX):c.2480G>A (p.Ser827Asn)
|
rs897147546
|
0.00001
|
NM_000489.6(ATRX):c.2494G>A (p.Gly832Ser)
|
rs1557139497
|
0.00001
|
NM_000489.6(ATRX):c.2597A>C (p.Lys866Thr)
|
rs782057275
|
0.00001
|
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)
|
rs587778086
|
0.00001
|
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln)
|
rs782374254
|
0.00001
|
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)
|
rs1057523431
|
0.00001
|
NM_000489.6(ATRX):c.3103A>G (p.Ile1035Val)
|
rs781916347
|
0.00001
|
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=)
|
rs782279780
|
0.00001
|
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)
|
rs587780285
|
0.00001
|
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)
|
rs782554626
|
0.00001
|
NM_000489.6(ATRX):c.3687G>A (p.Val1229=)
|
rs1051682
|
0.00001
|
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)
|
rs782556767
|
0.00001
|
NM_000489.6(ATRX):c.4647A>G (p.Leu1549=)
|
rs782303976
|
0.00001
|
NM_000489.6(ATRX):c.4767A>T (p.Gly1589=)
|
rs782707742
|
0.00001
|
NM_000489.6(ATRX):c.4858A>C (p.Ser1620Arg)
|
rs782115900
|
0.00001
|
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile)
|
rs1045875195
|
0.00001
|
NM_000489.6(ATRX):c.5273-19A>G
|
rs1278007263
|
0.00001
|
NM_000489.6(ATRX):c.5566+14C>T
|
rs1003519094
|
0.00001
|
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg)
|
rs1569528833
|
0.00001
|
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=)
|
rs1557079262
|
0.00001
|
NM_000489.6(ATRX):c.672G>A (p.Ala224=)
|
rs782223625
|
0.00001
|
NM_000489.6(ATRX):c.7072-3T>C
|
rs782686541
|
0.00001
|
NM_000489.6(ATRX):c.7401G>A (p.Met2467Ile)
|
rs782416494
|
0.00001
|
NM_000489.6(ATRX):c.917A>G (p.Asn306Ser)
|
rs782367711
|
0.00001
|
NM_000533.5(PLP1):c.594C>A (p.Gly198=)
|
rs757600628
|
0.00001
|
NM_000702.4(ATP1A2):c.2563+15G>A
|
rs528454399
|
0.00001
|
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=)
|
rs200127278
|
0.00001
|
NM_000702.4(ATP1A2):c.3034+6C>A
|
rs574788908
|
0.00001
|
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=)
|
rs533663836
|
0.00001
|
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=)
|
rs535699325
|
0.00001
|
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His)
|
rs281865068
|
0.00001
|
NM_000744.7(CHRNA4):c.1010C>T (p.Thr337Met)
|
rs201673381
|
0.00001
|
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=)
|
rs201514209
|
0.00001
|
NM_000815.5(GABRD):c.777C>T (p.Val259=)
|
rs553793272
|
0.00001
|
NM_000815.5(GABRD):c.972C>G (p.Ala324=)
|
rs368765147
|
0.00001
|
NM_000834.5(GRIN2B):c.1010+3G>A
|
rs771246986
|
0.00001
|
NM_000834.5(GRIN2B):c.1125+9T>C
|
rs764590430
|
0.00001
|
NM_000834.5(GRIN2B):c.1318A>G (p.Ile440Val)
|
rs765062440
|
0.00001
|
NM_000834.5(GRIN2B):c.2325G>C (p.Gln775His)
|
rs774981179
|
0.00001
|
NM_000834.5(GRIN2B):c.2700C>A (p.Arg900=)
|
rs531269037
|
0.00001
|
NM_000834.5(GRIN2B):c.2938G>A (p.Val980Met)
|
rs778202551
|
0.00001
|
NM_000834.5(GRIN2B):c.3049T>G (p.Ser1017Ala)
|
rs1948601205
|
0.00001
|
NM_000834.5(GRIN2B):c.3148A>G (p.Ser1050Gly)
|
rs1157190922
|
0.00001
|
NM_000834.5(GRIN2B):c.3402G>A (p.Leu1134=)
|
rs1227988479
|
0.00001
|
NM_000834.5(GRIN2B):c.3588T>C (p.Pro1196=)
|
rs200884387
|
0.00001
|
NM_000834.5(GRIN2B):c.3660C>G (p.Ser1220=)
|
rs201983807
|
0.00001
|
NM_000834.5(GRIN2B):c.3685G>A (p.Val1229Met)
|
rs1948582128
|
0.00001
|
NM_000834.5(GRIN2B):c.4035C>T (p.Gly1345=)
|
rs776247380
|
0.00001
|
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val)
|
rs763372245
|
0.00001
|
NM_000834.5(GRIN2B):c.4093A>C (p.Asn1365His)
|
rs1330186615
|
0.00001
|
NM_000834.5(GRIN2B):c.4102G>A (p.Gly1368Ser)
|
rs1043559346
|
0.00001
|
NM_000834.5(GRIN2B):c.4148C>T (p.Thr1383Met)
|
rs775838374
|
0.00001
|
NM_000834.5(GRIN2B):c.4205A>G (p.Lys1402Arg)
|
rs1349506481
|
0.00001
|
NM_000834.5(GRIN2B):c.4229C>T (p.Thr1410Met)
|
rs779830552
|
0.00001
|
NM_000834.5(GRIN2B):c.4235C>A (p.Ala1412Glu)
|
rs1314346300
|
0.00001
|
NM_000834.5(GRIN2B):c.425T>C (p.Met142Thr)
|
rs1184168879
|
0.00001
|
NM_000834.5(GRIN2B):c.4265G>A (p.Arg1422Gln)
|
rs75269586
|
0.00001
|
NM_000834.5(GRIN2B):c.4286C>T (p.Pro1429Leu)
|
rs1261054497
|
0.00001
|
NM_000834.5(GRIN2B):c.4322G>A (p.Arg1441His)
|
rs200903876
|
0.00001
|
NM_000834.5(GRIN2B):c.4355C>T (p.Ser1452Phe)
|
rs756790727
|
0.00001
|
NM_000834.5(GRIN2B):c.4375A>G (p.Asn1459Asp)
|
rs1384338205
|
0.00001
|
NM_000834.5(GRIN2B):c.619A>G (p.Met207Val)
|
rs747790101
|
0.00001
|
NM_000834.5(GRIN2B):c.679A>G (p.Ile227Val)
|
rs201672517
|
0.00001
|
NM_000834.5(GRIN2B):c.871G>A (p.Ala291Thr)
|
rs1246772896
|
0.00001
|
NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser)
|
rs748965398
|
0.00001
|
NM_000925.4(PDHB):c.43-18T>C
|
rs548113809
|
0.00001
|
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met)
|
rs777065935
|
0.00001
|
NM_001008212.2(OPTN):c.-274C>A
|
rs552494483
|
0.00001
|
NM_001008212.2(OPTN):c.447G>A (p.Arg149=)
|
rs555741399
|
0.00001
|
NM_001015877.2(PHF6):c.240+10T>C
|
rs750243844
|
0.00001
|
NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr)
|
rs782562675
|
0.00001
|
NM_001032221.6(STXBP1):c.1543G>A (p.Val515Ile)
|
rs781079163
|
0.00001
|
NM_001032221.6(STXBP1):c.1548-7T>C
|
rs534556046
|
0.00001
|
NM_001032221.6(STXBP1):c.1585G>A (p.Gly529Ser)
|
rs763711145
|
0.00001
|
NM_001032221.6(STXBP1):c.36G>C (p.Glu12Asp)
|
rs796053378
|
0.00001
|
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=)
|
rs561329680
|
0.00001
|
NM_001032221.6(STXBP1):c.824G>A (p.Arg275Gln)
|
rs747288455
|
0.00001
|
NM_001032221.6(STXBP1):c.964-3C>T
|
rs1841563646
|
0.00001
|
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=)
|
rs143156492
|
0.00001
|
NM_001040142.2(SCN2A):c.*1753C>T
|
rs74881341
|
0.00001
|
NM_001040142.2(SCN2A):c.2388+12T>C
|
rs749226972
|
0.00001
|
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val)
|
rs781204054
|
0.00001
|
NM_001079872.2(CUL4B):c.2266+4T>A
|
rs747816205
|
0.00001
|
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg)
|
rs372521943
|
0.00001
|
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=)
|
rs768589790
|
0.00001
|
NM_001099922.3(ALG13):c.2932+17A>G
|
rs760993782
|
0.00001
|
NM_001099922.3(ALG13):c.486T>C (p.Phe162=)
|
rs751015058
|
0.00001
|
NM_001110556.2(FLNA):c.1009G>A (p.Asp337Asn)
|
rs782696220
|
0.00001
|
NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile)
|
rs1557179208
|
0.00001
|
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile)
|
rs782791907
|
0.00001
|
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp)
|
rs1557179125
|
0.00001
|
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu)
|
rs782168634
|
0.00001
|
NM_001110556.2(FLNA):c.1455G>A (p.Ala485=)
|
rs782650242
|
0.00001
|
NM_001110556.2(FLNA):c.1568-19G>A
|
rs782606152
|
0.00001
|
NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile)
|
rs863223619
|
0.00001
|
NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg)
|
rs781806203
|
0.00001
|
NM_001110556.2(FLNA):c.1686G>A (p.Gly562=)
|
rs782730676
|
0.00001
|
NM_001110556.2(FLNA):c.1692-10G>A
|
rs199740539
|
0.00001
|
NM_001110556.2(FLNA):c.1717G>A (p.Glu573Lys)
|
rs1399359867
|
0.00001
|
NM_001110556.2(FLNA):c.17C>T (p.Ser6Phe)
|
rs782780394
|
0.00001
|
NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn)
|
rs1557178769
|
0.00001
|
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe)
|
rs137853311
|
0.00001
|
NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser)
|
rs781988346
|
0.00001
|
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp)
|
rs782287086
|
0.00001
|
NM_001110556.2(FLNA):c.2206G>A (p.Val736Met)
|
rs1409855324
|
0.00001
|
NM_001110556.2(FLNA):c.2221G>A (p.Val741Met)
|
rs782439081
|
0.00001
|
NM_001110556.2(FLNA):c.2361C>G (p.His787Gln)
|
rs863223620
|
0.00001
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
NM_001110556.2(FLNA):c.2452G>A (p.Ala818Thr)
|
rs782591945
|
0.00001
|
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)
|
rs1557178278
|
0.00001
|
NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn)
|
rs782555729
|
0.00001
|
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp)
|
rs782772998
|
0.00001
|
NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr)
|
rs782402900
|
0.00001
|
NM_001110556.2(FLNA):c.2762G>A (p.Arg921Gln)
|
rs782334371
|
0.00001
|
NM_001110556.2(FLNA):c.2783A>G (p.His928Arg)
|
rs1209463656
|
0.00001
|
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp)
|
rs190437842
|
0.00001
|
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu)
|
rs782451202
|
0.00001
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr)
|
rs1557178033
|
0.00001
|
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys)
|
rs1187268269
|
0.00001
|
NM_001110556.2(FLNA):c.3283G>A (p.Ala1095Thr)
|
rs781864297
|
0.00001
|
NM_001110556.2(FLNA):c.3370G>A (p.Val1124Met)
|
rs781842942
|
0.00001
|
NM_001110556.2(FLNA):c.3412A>G (p.Ile1138Val)
|
rs782318545
|
0.00001
|
NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=)
|
rs782219300
|
0.00001
|
NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met)
|
rs1557177750
|
0.00001
|
NM_001110556.2(FLNA):c.3592T>C (p.Cys1198Arg)
|
rs781924230
|
0.00001
|
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val)
|
rs201810442
|
0.00001
|
NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=)
|
rs1557177714
|
0.00001
|
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser)
|
rs781896277
|
0.00001
|
NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His)
|
rs1557177520
|
0.00001
|
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg)
|
rs782774182
|
0.00001
|
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val)
|
rs781976719
|
0.00001
|
NM_001110556.2(FLNA):c.4276G>A (p.Val1426Ile)
|
rs782073521
|
0.00001
|
NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser)
|
rs781855364
|
0.00001
|
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu)
|
rs372729831
|
0.00001
|
NM_001110556.2(FLNA):c.4803C>T (p.Asp1601=)
|
rs1557177102
|
0.00001
|
NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr)
|
rs863223639
|
0.00001
|
NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met)
|
rs781783107
|
0.00001
|
NM_001110556.2(FLNA):c.5095G>A (p.Asp1699Asn)
|
rs782048198
|
0.00001
|
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met)
|
rs782351877
|
0.00001
|
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)
|
rs781993685
|
0.00001
|
NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile)
|
rs187497365
|
0.00001
|
NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu)
|
rs1557176526
|
0.00001
|
NM_001110556.2(FLNA):c.5281T>C (p.Tyr1761His)
|
rs1293701269
|
0.00001
|
NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser)
|
rs1557176498
|
0.00001
|
NM_001110556.2(FLNA):c.5319G>A (p.Pro1773=)
|
rs782127738
|
0.00001
|
NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser)
|
rs782269425
|
0.00001
|
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met)
|
rs782448596
|
0.00001
|
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys)
|
rs782307604
|
0.00001
|
NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys)
|
rs782771039
|
0.00001
|
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser)
|
rs782095418
|
0.00001
|
NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn)
|
rs930325486
|
0.00001
|
NM_001110556.2(FLNA):c.587G>A (p.Arg196Gln)
|
rs1569551872
|
0.00001
|
NM_001110556.2(FLNA):c.5908G>A (p.Asp1970Asn)
|
rs1304255474
|
0.00001
|
NM_001110556.2(FLNA):c.5966C>T (p.Pro1989Leu)
|
rs992772682
|
0.00001
|
NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met)
|
rs200956777
|
0.00001
|
NM_001110556.2(FLNA):c.6050G>A (p.Gly2017Glu)
|
rs1557176160
|
0.00001
|
NM_001110556.2(FLNA):c.6140C>G (p.Ala2047Gly)
|
rs781802209
|
0.00001
|
NM_001110556.2(FLNA):c.6209T>C (p.Ile2070Thr)
|
rs782693894
|
0.00001
|
NM_001110556.2(FLNA):c.6286G>A (p.Asp2096Asn)
|
rs781962577
|
0.00001
|
NM_001110556.2(FLNA):c.6297C>T (p.Asp2099=)
|
rs377571943
|
0.00001
|
NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met)
|
rs1557176038
|
0.00001
|
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp)
|
rs782761341
|
0.00001
|
NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr)
|
rs1222551110
|
0.00001
|
NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys)
|
rs782621818
|
0.00001
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
NM_001110556.2(FLNA):c.6817A>G (p.Ile2273Val)
|
rs1004772663
|
0.00001
|
NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=)
|
rs782377203
|
0.00001
|
NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys)
|
rs782689584
|
0.00001
|
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)
|
rs781878646
|
0.00001
|
NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr)
|
rs1557175653
|
0.00001
|
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe)
|
rs1557175646
|
0.00001
|
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=)
|
rs782541746
|
0.00001
|
NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu)
|
rs1350949025
|
0.00001
|
NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser)
|
rs782189345
|
0.00001
|
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)
|
rs781788290
|
0.00001
|
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser)
|
rs1557175387
|
0.00001
|
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)
|
rs782563616
|
0.00001
|
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg)
|
rs782442409
|
0.00001
|
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala)
|
rs886039104
|
0.00001
|
NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg)
|
rs1557175285
|
0.00001
|
NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=)
|
rs782709737
|
0.00001
|
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu)
|
rs371600068
|
0.00001
|
NM_001110556.2(FLNA):c.969G>A (p.Pro323=)
|
rs782178449
|
0.00001
|
NM_001110556.2(FLNA):c.972C>T (p.Ala324=)
|
rs781806385
|
0.00001
|
NM_001110556.2(FLNA):c.973G>A (p.Gly325Arg)
|
rs782724892
|
0.00001
|
NM_001110792.2(MECP2):c.1013C>A (p.Ser338Tyr)
|
rs1557136107
|
0.00001
|
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=)
|
rs782228941
|
0.00001
|
NM_001110792.2(MECP2):c.1131G>A (p.Glu377=)
|
rs782085130
|
0.00001
|
NM_001110792.2(MECP2):c.1137C>G (p.His379Gln)
|
rs1336019373
|
0.00001
|
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr)
|
rs375477214
|
0.00001
|
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=)
|
rs782221170
|
0.00001
|
NM_001110792.2(MECP2):c.1221C>T (p.Ser407=)
|
rs782775618
|
0.00001
|
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn)
|
rs62707562
|
0.00001
|
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr)
|
rs150146088
|
0.00001
|
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=)
|
rs267608621
|
0.00001
|
NM_001110792.2(MECP2):c.1327A>C (p.Lys443Gln)
|
rs781829911
|
0.00001
|
NM_001110792.2(MECP2):c.1365C>T (p.Ala455=)
|
rs782706777
|
0.00001
|
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val)
|
rs61753978
|
0.00001
|
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser)
|
rs267608636
|
0.00001
|
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)
|
rs1064797047
|
0.00001
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001110792.2(MECP2):c.573C>G (p.Pro191=)
|
rs782676768
|
0.00001
|
NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser)
|
rs373329231
|
0.00001
|
NM_001110792.2(MECP2):c.633C>G (p.Pro211=)
|
rs782619288
|
0.00001
|
NM_001110792.2(MECP2):c.682A>G (p.Ser228Gly)
|
rs782777382
|
0.00001
|
NM_001110792.2(MECP2):c.831C>G (p.Pro277=)
|
rs267608527
|
0.00001
|
NM_001110792.2(MECP2):c.846A>G (p.Arg282=)
|
rs782743949
|
0.00001
|
NM_001110792.2(MECP2):c.888A>G (p.Lys296=)
|
rs1475733695
|
0.00001
|
NM_001110792.2(MECP2):c.898G>A (p.Val300Met)
|
rs782455664
|
0.00001
|
NM_001111.5(ADAR):c.2496+8C>T
|
rs770464278
|
0.00001
|
NM_001111125.3(IQSEC2):c.1620G>A (p.Gln540=)
|
rs376149648
|
0.00001
|
NM_001111125.3(IQSEC2):c.1656G>A (p.Pro552=)
|
rs200411197
|
0.00001
|
NM_001111125.3(IQSEC2):c.1944C>T (p.Tyr648=)
|
rs781942714
|
0.00001
|
NM_001111125.3(IQSEC2):c.2618G>A (p.Arg873His)
|
rs370830356
|
0.00001
|
NM_001111125.3(IQSEC2):c.2627G>A (p.Arg876Gln)
|
rs376739885
|
0.00001
|
NM_001111125.3(IQSEC2):c.3015+13T>G
|
rs782124794
|
0.00001
|
NM_001111125.3(IQSEC2):c.3081C>T (p.Leu1027=)
|
rs781862515
|
0.00001
|
NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=)
|
rs782725826
|
0.00001
|
NM_001111125.3(IQSEC2):c.385G>A (p.Val129Met)
|
rs1347714754
|
0.00001
|
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=)
|
rs782083256
|
0.00001
|
NM_001111125.3(IQSEC2):c.803C>G (p.Pro268Arg)
|
rs368559547
|
0.00001
|
NM_001112741.2(KCNC1):c.1451A>G (p.Gln484Arg)
|
rs770586397
|
0.00001
|
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly)
|
rs538079885
|
0.00001
|
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=)
|
rs554701306
|
0.00001
|
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn)
|
rs372823282
|
0.00001
|
NM_001127222.2(CACNA1A):c.3308C>T (p.Pro1103Leu)
|
rs554455455
|
0.00001
|
NM_001127222.2(CACNA1A):c.3882+13T>C
|
rs779233415
|
0.00001
|
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)
|
rs771030765
|
0.00001
|
NM_001127644.2(GABRA1):c.1337A>G (p.Glu446Gly)
|
rs1755418006
|
0.00001
|
NM_001127644.2(GABRA1):c.422T>G (p.Met141Arg)
|
rs1235304350
|
0.00001
|
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=)
|
rs372742479
|
0.00001
|
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=)
|
rs764666718
|
0.00001
|
NM_001127644.2(GABRA1):c.857-3C>T
|
rs1323709924
|
0.00001
|
NM_001127644.2(GABRA1):c.8A>G (p.Lys3Arg)
|
rs111452646
|
0.00001
|
NM_001130438.3(SPTAN1):c.1007G>A (p.Arg336Gln)
|
rs796930106
|
0.00001
|
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=)
|
rs570171059
|
0.00001
|
NM_001130438.3(SPTAN1):c.1690C>T (p.Arg564Cys)
|
rs759822213
|
0.00001
|
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His)
|
rs201168391
|
0.00001
|
NM_001130438.3(SPTAN1):c.2354G>A (p.Arg785Gln)
|
rs780875433
|
0.00001
|
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His)
|
rs561564501
|
0.00001
|
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr)
|
rs143309753
|
0.00001
|
NM_001130438.3(SPTAN1):c.3762A>G (p.Gln1254=)
|
rs533042543
|
0.00001
|
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln)
|
rs773288631
|
0.00001
|
NM_001130438.3(SPTAN1):c.504+5G>A
|
rs377258326
|
0.00001
|
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg)
|
rs771886198
|
0.00001
|
NM_001130438.3(SPTAN1):c.5544G>A (p.Gln1848=)
|
rs572958583
|
0.00001
|
NM_001130438.3(SPTAN1):c.5712C>T (p.Gly1904=)
|
rs150960451
|
0.00001
|
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=)
|
rs763385120
|
0.00001
|
NM_001130438.3(SPTAN1):c.7415G>A (p.Arg2472His)
|
rs375016371
|
0.00001
|
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=)
|
rs587784442
|
0.00001
|
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His)
|
rs757460628
|
0.00001
|
NM_001130823.3(DNMT1):c.3714C>T (p.Gly1238=)
|
rs761502229
|
0.00001
|
NM_001130823.3(DNMT1):c.4657-15G>A
|
rs201805582
|
0.00001
|
NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=)
|
rs576877219
|
0.00001
|
NM_001134407.3(GRIN2A):c.*722G>A
|
rs569360567
|
0.00001
|
NM_001134407.3(GRIN2A):c.1329-9T>G
|
rs541442732
|
0.00001
|
NM_001134407.3(GRIN2A):c.1345G>T (p.Gly449Trp)
|
rs1218196720
|
0.00001
|
NM_001134407.3(GRIN2A):c.1770A>C (p.Lys590Asn)
|
rs563779542
|
0.00001
|
NM_001134407.3(GRIN2A):c.2497A>G (p.Ile833Val)
|
rs774656858
|
0.00001
|
NM_001134407.3(GRIN2A):c.2859G>C (p.Glu953Asp)
|
rs749810424
|
0.00001
|
NM_001134407.3(GRIN2A):c.3064C>T (p.Arg1022Cys)
|
rs560057284
|
0.00001
|
NM_001134407.3(GRIN2A):c.3123T>C (p.Asn1041=)
|
rs574425467
|
0.00001
|
NM_001134407.3(GRIN2A):c.3191C>T (p.Thr1064Met)
|
rs756930722
|
0.00001
|
NM_001134407.3(GRIN2A):c.3834A>G (p.Gln1278=)
|
rs145833287
|
0.00001
|
NM_001134407.3(GRIN2A):c.4184C>T (p.Ala1395Val)
|
rs199696775
|
0.00001
|
NM_001134407.3(GRIN2A):c.418C>G (p.Pro140Ala)
|
rs776317814
|
0.00001
|
NM_001134407.3(GRIN2A):c.810A>G (p.Lys270=)
|
rs367543122
|
0.00001
|
NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg)
|
rs568294049
|
0.00001
|
NM_001165963.4(SCN1A):c.1029-12C>T
|
rs772513720
|
0.00001
|
NM_001165963.4(SCN1A):c.2044-20A>G
|
rs777660738
|
0.00001
|
NM_001165963.4(SCN1A):c.3477C>T (p.Ile1159=)
|
rs761878186
|
0.00001
|
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)
|
rs776752552
|
0.00001
|
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)
|
rs373967247
|
0.00001
|
NM_001165963.4(SCN1A):c.558T>C (p.Leu186=)
|
rs539168834
|
0.00001
|
NM_001165963.4(SCN1A):c.879A>C (p.Glu293Asp)
|
rs1457806589
|
0.00001
|
NM_001166114.2(PNPLA6):c.1203C>A (p.Pro401=)
|
rs546470199
|
0.00001
|
NM_001166114.2(PNPLA6):c.2817+17C>T
|
rs777558728
|
0.00001
|
NM_001172509.2(SATB2):c.1072G>A (p.Val358Met)
|
rs765504446
|
0.00001
|
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu)
|
rs780366664
|
0.00001
|
NM_001172509.2(SATB2):c.1445A>G (p.Asn482Ser)
|
rs1302645769
|
0.00001
|
NM_001172509.2(SATB2):c.1543-6C>G
|
rs1328592029
|
0.00001
|
NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys)
|
rs756719862
|
0.00001
|
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)
|
rs1042085577
|
0.00001
|
NM_001172509.2(SATB2):c.1749T>C (p.His583=)
|
rs199854906
|
0.00001
|
NM_001172509.2(SATB2):c.2172G>C (p.Lys724Asn)
|
rs915648697
|
0.00001
|
NM_001172509.2(SATB2):c.2176G>A (p.Ala726Thr)
|
rs551624897
|
0.00001
|
NM_001172509.2(SATB2):c.482A>G (p.Lys161Arg)
|
rs1360355424
|
0.00001
|
NM_001172509.2(SATB2):c.597+4A>G
|
rs777983427
|
0.00001
|
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu)
|
rs766855879
|
0.00001
|
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys)
|
rs1000649173
|
0.00001
|
NM_001172509.2(SATB2):c.894T>A (p.Leu298=)
|
rs199530574
|
0.00001
|
NM_001172509.2(SATB2):c.94G>A (p.Ala32Thr)
|
rs1461281024
|
0.00001
|
NM_001205293.3(CACNA1E):c.1883+9C>G
|
rs1488129029
|
0.00001
|
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=)
|
rs1257129141
|
0.00001
|
NM_001242896.3(DEPDC5):c.3099G>C (p.Val1033=)
|
rs776701394
|
0.00001
|
NM_001242896.3(DEPDC5):c.3195G>A (p.Lys1065=)
|
rs769742063
|
0.00001
|
NM_001242896.3(DEPDC5):c.4302C>G (p.Pro1434=)
|
rs531253840
|
0.00001
|
NM_001244008.2(KIF1A):c.231C>T (p.Ile77=)
|
rs530669240
|
0.00001
|
NM_001244008.2(KIF1A):c.2582+7G>A
|
rs781439626
|
0.00001
|
NM_001244008.2(KIF1A):c.4519C>T (p.Arg1507Trp)
|
rs755721997
|
0.00001
|
NM_001244008.2(KIF1A):c.4952C>T (p.Ala1651Val)
|
rs369475699
|
0.00001
|
NM_001271.4(CHD2):c.1995G>A (p.Pro665=)
|
rs747900073
|
0.00001
|
NM_001271.4(CHD2):c.4518G>A (p.Leu1506=)
|
rs557766333
|
0.00001
|
NM_001271.4(CHD2):c.4724G>C (p.Gly1575Ala)
|
rs746506782
|
0.00001
|
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=)
|
rs781108294
|
0.00001
|
NM_001271.4(CHD2):c.849A>G (p.Val283=)
|
rs1476764301
|
0.00001
|
NM_001288705.3(CSF1R):c.1728G>A (p.Glu576=)
|
rs549280708
|
0.00001
|
NM_001323289.2(CDKL5):c.1088A>G (p.Asn363Ser)
|
rs755167459
|
0.00001
|
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=)
|
rs267608620
|
0.00001
|
NM_001323289.2(CDKL5):c.1422C>T (p.Pro474=)
|
rs773921712
|
0.00001
|
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=)
|
rs371603866
|
0.00001
|
NM_001323289.2(CDKL5):c.1767C>T (p.His589=)
|
rs267608645
|
0.00001
|
NM_001323289.2(CDKL5):c.2152+10C>G
|
rs763466606
|
0.00001
|
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=)
|
rs781774964
|
0.00001
|
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr)
|
rs763110247
|
0.00001
|
NM_001323289.2(CDKL5):c.463+8A>G
|
rs769244237
|
0.00001
|
NM_001323289.2(CDKL5):c.554+11G>A
|
rs267608498
|
0.00001
|
NM_001323289.2(CDKL5):c.915T>C (p.Arg305=)
|
rs1170498240
|
0.00001
|
NM_001326411.2(PISD):c.322-3886G>A
|
rs863223357
|
0.00001
|
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=)
|
rs574658488
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3802G>A
|
rs541632685
|
0.00001
|
NM_001330260.2(SCN8A):c.270G>T (p.Thr90=)
|
rs371712630
|
0.00001
|
NM_001330260.2(SCN8A):c.3150T>G (p.Gly1050=)
|
rs552307188
|
0.00001
|
NM_001330260.2(SCN8A):c.485+17T>C
|
rs748436294
|
0.00001
|
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)
|
rs764115258
|
0.00001
|
NM_001330260.2(SCN8A):c.888C>G (p.Gly296=)
|
rs565852557
|
0.00001
|
NM_001330574.2(ZNF711):c.*47A>G
|
rs755503652
|
0.00001
|
NM_001330574.2(ZNF711):c.2109C>T (p.Ser703=)
|
rs150030676
|
0.00001
|
NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys)
|
rs367984873
|
0.00001
|
NM_001347721.2(DYRK1A):c.128G>A (p.Arg43His)
|
rs750600368
|
0.00001
|
NM_001347721.2(DYRK1A):c.1555C>T (p.Arg519Trp)
|
rs1448604709
|
0.00001
|
NM_001347721.2(DYRK1A):c.1607C>T (p.Ala536Val)
|
rs188293397
|
0.00001
|
NM_001347721.2(DYRK1A):c.1648C>T (p.Arg550Cys)
|
rs757222616
|
0.00001
|
NM_001347721.2(DYRK1A):c.1658T>A (p.Phe553Tyr)
|
rs745713557
|
0.00001
|
NM_001347721.2(DYRK1A):c.1819C>G (p.His607Asp)
|
rs760957728
|
0.00001
|
NM_001347721.2(DYRK1A):c.1915G>A (p.Val639Ile)
|
rs201421931
|
0.00001
|
NM_001347721.2(DYRK1A):c.2003A>G (p.Asn668Ser)
|
rs543826218
|
0.00001
|
NM_001347721.2(DYRK1A):c.2071G>A (p.Val691Ile)
|
rs540559440
|
0.00001
|
NM_001347721.2(DYRK1A):c.2084T>C (p.Val695Ala)
|
rs763795503
|
0.00001
|
NM_001347721.2(DYRK1A):c.2128A>G (p.Thr710Ala)
|
rs774450081
|
0.00001
|
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys)
|
rs1462221945
|
0.00001
|
NM_001347721.2(DYRK1A):c.650G>A (p.Arg217His)
|
rs758727805
|
0.00001
|
NM_001350451.2(RBFOX3):c.641C>A (p.Pro214His)
|
rs370372079
|
0.00001
|
NM_001351132.2(PEX5):c.381T>C (p.Asp127=)
|
rs201467035
|
0.00001
|
NM_001353921.2(ARHGEF9):c.1077+13C>G
|
rs782189949
|
0.00001
|
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr)
|
rs1421919089
|
0.00001
|
NM_001353921.2(ARHGEF9):c.31-16C>T
|
rs782420279
|
0.00001
|
NM_001353921.2(ARHGEF9):c.403-19G>A
|
rs782062229
|
0.00001
|
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile)
|
rs1384182085
|
0.00001
|
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr)
|
rs1018959938
|
0.00001
|
NM_001365536.1(SCN9A):c.3484A>T (p.Arg1162Trp)
|
rs375828897
|
0.00001
|
NM_001365536.1(SCN9A):c.5245C>T (p.Leu1749=)
|
rs200636760
|
0.00001
|
NM_001365999.1(SZT2):c.7185A>G (p.Ser2395=)
|
rs1654894278
|
0.00001
|
NM_001365999.1(SZT2):c.780C>T (p.Ile260=)
|
rs375794037
|
0.00001
|
NM_001365999.1(SZT2):c.8151+11C>T
|
rs78750047
|
0.00001
|
NM_001367561.1(DOCK7):c.281G>A (p.Arg94Gln)
|
rs570514826
|
0.00001
|
NM_001370259.2(MEN1):c.784-129T>A
|
rs536461697
|
0.00001
|
NM_001371727.1(GABRB2):c.1077+6T>C
|
rs993294374
|
0.00001
|
NM_001371727.1(GABRB2):c.1144C>T (p.Leu382Phe)
|
rs756481987
|
0.00001
|
NM_001371727.1(GABRB2):c.1204G>A (p.Glu402Lys)
|
rs78789939
|
0.00001
|
NM_001371727.1(GABRB2):c.1280C>T (p.Pro427Leu)
|
rs762381690
|
0.00001
|
NM_001371727.1(GABRB2):c.1382C>T (p.Ala461Val)
|
rs952831120
|
0.00001
|
NM_001371727.1(GABRB2):c.1430C>T (p.Thr477Ile)
|
rs781122974
|
0.00001
|
NM_001371727.1(GABRB2):c.46C>G (p.Pro16Ala)
|
rs775021096
|
0.00001
|
NM_001371727.1(GABRB2):c.662A>G (p.Lys221Arg)
|
rs1273884286
|
0.00001
|
NM_001371727.1(GABRB2):c.77+16G>T
|
rs778830538
|
0.00001
|
NM_001371727.1(GABRB2):c.9A>T (p.Arg3Ser)
|
rs967225542
|
0.00001
|
NM_001371928.1(AHDC1):c.984G>T (p.Leu328=)
|
rs749199491
|
0.00001
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293
|
0.00001
|
NM_001378120.1(MBD5):c.109G>A (p.Val37Ile)
|
rs747911147
|
0.00001
|
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)
|
rs536900412
|
0.00001
|
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr)
|
rs576930680
|
0.00001
|
NM_001378120.1(MBD5):c.2524T>C (p.Ser842Pro)
|
rs144805912
|
0.00001
|
NM_001378120.1(MBD5):c.3925G>A (p.Val1309Ile)
|
rs973326943
|
0.00001
|
NM_001378120.1(MBD5):c.396A>G (p.Thr132=)
|
rs778891789
|
0.00001
|
NM_001378120.1(MBD5):c.398-12C>T
|
rs556768118
|
0.00001
|
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn)
|
rs763106823
|
0.00001
|
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu)
|
rs1057522316
|
0.00001
|
NM_001378120.1(MBD5):c.4438A>G (p.Ile1480Val)
|
rs746105686
|
0.00001
|
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=)
|
rs777735514
|
0.00001
|
NM_001378120.1(MBD5):c.785A>G (p.Asn262Ser)
|
rs772659870
|
0.00001
|
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile)
|
rs543514234
|
0.00001
|
NM_001378452.1(ITPR1):c.7701+3A>G
|
rs533303665
|
0.00001
|
NM_001378969.1(KCND3):c.624C>T (p.Gly208=)
|
rs772815178
|
0.00001
|
NM_001378969.1(KCND3):c.786C>T (p.Ile262=)
|
rs369172530
|
0.00001
|
NM_001379500.1(COL18A1):c.*1129A>C
|
rs576842258
|
0.00001
|
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=)
|
rs199923715
|
0.00001
|
NM_001385875.1(ZFYVE27):c.551+14C>T
|
rs554334501
|
0.00001
|
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala)
|
rs377368037
|
0.00001
|
NM_001429.4(EP300):c.2005A>G (p.Met669Val)
|
rs749541256
|
0.00001
|
NM_001429.4(EP300):c.206G>A (p.Gly69Asp)
|
rs370355846
|
0.00001
|
NM_001429.4(EP300):c.271C>T (p.Pro91Ser)
|
rs138538553
|
0.00001
|
NM_001429.4(EP300):c.2997+12G>A
|
rs372770495
|
0.00001
|
NM_001429.4(EP300):c.469C>A (p.Pro157Thr)
|
rs748538778
|
0.00001
|
NM_001429.4(EP300):c.471A>G (p.Pro157=)
|
rs770598337
|
0.00001
|
NM_001429.4(EP300):c.5709C>T (p.Gly1903=)
|
rs200728751
|
0.00001
|
NM_001429.4(EP300):c.6352A>G (p.Met2118Val)
|
rs755381839
|
0.00001
|
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser)
|
rs201369756
|
0.00001
|
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu)
|
rs587778259
|
0.00001
|
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg)
|
rs750386918
|
0.00001
|
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val)
|
rs200252122
|
0.00001
|
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=)
|
rs773443475
|
0.00001
|
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=)
|
rs139917163
|
0.00001
|
NM_001846.4(COL4A2):c.1094C>T (p.Pro365Leu)
|
rs746749693
|
0.00001
|
NM_001846.4(COL4A2):c.1199G>C (p.Arg400Thr)
|
rs746145513
|
0.00001
|
NM_001846.4(COL4A2):c.1339+14A>G
|
rs368543918
|
0.00001
|
NM_001846.4(COL4A2):c.361-11C>G
|
rs532415822
|
0.00001
|
NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn)
|
rs368612819
|
0.00001
|
NM_001846.4(COL4A2):c.4167G>A (p.Gly1389=)
|
rs776334302
|
0.00001
|
NM_001846.4(COL4A2):c.4414C>T (p.Arg1472Cys)
|
rs779703009
|
0.00001
|
NM_001846.4(COL4A2):c.468C>T (p.Thr156=)
|
rs765157156
|
0.00001
|
NM_001909.5(CTSD):c.1116C>T (p.Gly372=)
|
rs557342549
|
0.00001
|
NM_001958.5(EEF1A2):c.1029+4G>C
|
rs945481319
|
0.00001
|
NM_001958.5(EEF1A2):c.1339G>A (p.Gly447Ser)
|
rs934642118
|
0.00001
|
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
|
rs201399681
|
0.00001
|
NM_002087.4(GRN):c.267C>T (p.Ala89=)
|
rs201699327
|
0.00001
|
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)
|
rs797045703
|
0.00001
|
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser)
|
rs1322552264
|
0.00001
|
NM_002397.5(MEF2C):c.730A>G (p.Met244Val)
|
rs752349182
|
0.00001
|
NM_002397.5(MEF2C):c.963C>T (p.Thr321=)
|
rs1363064582
|
0.00001
|
NM_002609.4(PDGFRB):c.2587-5T>C
|
rs758524703
|
0.00001
|
NM_002617.4(PEX10):c.864C>T (p.Cys288=)
|
rs762621687
|
0.00001
|
NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly)
|
rs1174537633
|
0.00001
|
NM_002641.4(PIGA):c.250A>G (p.Thr84Ala)
|
rs768321389
|
0.00001
|
NM_002641.4(PIGA):c.879G>A (p.Lys293=)
|
rs777674120
|
0.00001
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00001
|
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)
|
rs558427025
|
0.00001
|
NM_003042.4(SLC6A1):c.115G>A (p.Ala39Thr)
|
rs866130390
|
0.00001
|
NM_003042.4(SLC6A1):c.1256G>A (p.Arg419His)
|
rs941588071
|
0.00001
|
NM_003042.4(SLC6A1):c.1343A>G (p.Lys448Arg)
|
rs781635525
|
0.00001
|
NM_003042.4(SLC6A1):c.1435C>A (p.Arg479=)
|
rs745529755
|
0.00001
|
NM_003042.4(SLC6A1):c.144G>T (p.Lys48Asn)
|
rs751216831
|
0.00001
|
NM_003042.4(SLC6A1):c.149G>A (p.Arg50His)
|
rs766945941
|
0.00001
|
NM_003042.4(SLC6A1):c.1793A>G (p.Tyr598Cys)
|
rs1258130231
|
0.00001
|
NM_003042.4(SLC6A1):c.328A>G (p.Ile110Val)
|
rs1270312556
|
0.00001
|
NM_003042.4(SLC6A1):c.38T>C (p.Ile13Thr)
|
rs781163448
|
0.00001
|
NM_003042.4(SLC6A1):c.52A>G (p.Ser18Gly)
|
rs935976612
|
0.00001
|
NM_003042.4(SLC6A1):c.711A>T (p.Gly237=)
|
rs917843581
|
0.00001
|
NM_003042.4(SLC6A1):c.715-3C>T
|
rs1002831448
|
0.00001
|
NM_003042.4(SLC6A1):c.829C>T (p.Arg277Cys)
|
rs377383740
|
0.00001
|
NM_003042.4(SLC6A1):c.994A>G (p.Met332Val)
|
rs867226042
|
0.00001
|
NM_003070.5(SMARCA2):c.1675A>C (p.Arg559=)
|
rs753721830
|
0.00001
|
NM_003070.5(SMARCA2):c.1877+9T>A
|
rs760917036
|
0.00001
|
NM_003070.5(SMARCA2):c.4679G>A (p.Arg1560Gln)
|
rs537631853
|
0.00001
|
NM_003070.5(SMARCA2):c.597C>T (p.Pro199=)
|
rs747247552
|
0.00001
|
NM_003070.5(SMARCA2):c.791-7C>T
|
rs558585794
|
0.00001
|
NM_003072.5(SMARCA4):c.2347C>T (p.Leu783=)
|
rs762449855
|
0.00001
|
NM_003072.5(SMARCA4):c.2637T>C (p.Ile879=)
|
rs369795542
|
0.00001
|
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=)
|
rs372620534
|
0.00001
|
NM_003072.5(SMARCA4):c.4251C>T (p.Ser1417=)
|
rs377057304
|
0.00001
|
NM_003072.5(SMARCA4):c.54G>A (p.Pro18=)
|
rs529632222
|
0.00001
|
NM_003119.4(SPG7):c.1664-11C>A
|
rs574656941
|
0.00001
|
NM_003165.6(STXBP1):c.1765G>A (p.Glu589Lys)
|
rs144054444
|
0.00001
|
NM_003165.6(STXBP1):c.1772C>G (p.Ser591Cys)
|
rs1842136149
|
0.00001
|
NM_003334.4(UBA1):c.117+16G>A
|
rs375750779
|
0.00001
|
NM_003334.4(UBA1):c.1339-9A>G
|
rs782104383
|
0.00001
|
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys)
|
rs570568650
|
0.00001
|
NM_003334.4(UBA1):c.2053T>C (p.Leu685=)
|
rs781839671
|
0.00001
|
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)
|
rs782425809
|
0.00001
|
NM_003334.4(UBA1):c.2118C>T (p.Cys706=)
|
rs782597501
|
0.00001
|
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser)
|
rs781800261
|
0.00001
|
NM_003334.4(UBA1):c.2742G>C (p.Gln914His)
|
rs1487402125
|
0.00001
|
NM_003334.4(UBA1):c.2941-14C>T
|
rs782755186
|
0.00001
|
NM_003690.5(PRKRA):c.397-3T>C
|
rs200249113
|
0.00001
|
NM_003865.3(HESX1):c.183T>C (p.His61=)
|
rs374187836
|
0.00001
|
NM_003900.5(SQSTM1):c.222G>A (p.Leu74=)
|
rs371268375
|
0.00001
|
NM_003977.4(AIP):c.100-6C>A
|
rs539027647
|
0.00001
|
NM_003977.4(AIP):c.144C>T (p.Thr48=)
|
rs772658134
|
0.00001
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
NM_004082.5(DCTN1):c.*57C>T
|
rs567051449
|
0.00001
|
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=)
|
rs767877041
|
0.00001
|
NM_004082.5(DCTN1):c.2629-4G>A
|
rs201090138
|
0.00001
|
NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His)
|
rs747831061
|
0.00001
|
NM_004082.5(DCTN1):c.646-15G>A
|
rs201438504
|
0.00001
|
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys)
|
rs751177222
|
0.00001
|
NM_004115.4(FGF14):c.608-10C>T
|
rs574476283
|
0.00001
|
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu)
|
rs76896145
|
0.00001
|
NM_004168.4(SDHA):c.1371C>A (p.Leu457=)
|
rs75091805
|
0.00001
|
NM_004208.4(AIFM1):c.911C>T (p.Thr304Met)
|
rs200114054
|
0.00001
|
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn)
|
rs746902106
|
0.00001
|
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser)
|
rs558051943
|
0.00001
|
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=)
|
rs563033919
|
0.00001
|
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=)
|
rs756979739
|
0.00001
|
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)
|
rs373310969
|
0.00001
|
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)
|
rs557611780
|
0.00001
|
NM_004380.3(CREBBP):c.6684C>T (p.His2228=)
|
rs138613594
|
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_004408.4(DNM1):c.1196+4C>T
|
rs1445161696
|
0.00001
|
NM_004408.4(DNM1):c.1298C>T (p.Ser433Leu)
|
rs762000203
|
0.00001
|
NM_004408.4(DNM1):c.1330A>G (p.Lys444Glu)
|
rs756764400
|
0.00001
|
NM_004408.4(DNM1):c.1423-8C>A
|
rs555786484
|
0.00001
|
NM_004408.4(DNM1):c.1558-3C>T
|
rs546517702
|
0.00001
|
NM_004408.4(DNM1):c.1889T>C (p.Val630Ala)
|
rs1295777740
|
0.00001
|
NM_004408.4(DNM1):c.1906-6T>C
|
rs138961089
|
0.00001
|
NM_004408.4(DNM1):c.2318+10C>T
|
rs755903943
|
0.00001
|
NM_004408.4(DNM1):c.2360C>T (p.Ala787Val)
|
rs1363606775
|
0.00001
|
NM_004408.4(DNM1):c.2561G>A (p.Arg854His)
|
rs781345149
|
0.00001
|
NM_004408.4(DNM1):c.474C>T (p.Asp158=)
|
rs568247101
|
0.00001
|
NM_004408.4(DNM1):c.543G>A (p.Leu181=)
|
rs759118746
|
0.00001
|
NM_004408.4(DNM1):c.748G>A (p.Ala250Thr)
|
rs1422655933
|
0.00001
|
NM_004519.4(KCNQ3):c.*7461G>A
|
rs568659674
|
0.00001
|
NM_004519.4(KCNQ3):c.1421C>T (p.Thr474Met)
|
rs757583944
|
0.00001
|
NM_004565.3(PEX14):c.516C>T (p.Ser172=)
|
rs543843635
|
0.00001
|
NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp)
|
rs1327104134
|
0.00001
|
NM_004738.5(VAPB):c.*4240G>C
|
rs554043472
|
0.00001
|
NM_004738.5(VAPB):c.681G>A (p.Leu227=)
|
rs778389082
|
0.00001
|
NM_004813.4(PEX16):c.162T>C (p.Ser54=)
|
rs552583175
|
0.00001
|
NM_004974.4(KCNA2):c.555G>A (p.Leu185=)
|
rs553243804
|
0.00001
|
NM_004974.4(KCNA2):c.891G>T (p.Arg297=)
|
rs538914802
|
0.00001
|
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu)
|
rs767889610
|
0.00001
|
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu)
|
rs770677266
|
0.00001
|
NM_004975.4(KCNB1):c.1649C>T (p.Ser550Leu)
|
rs374024543
|
0.00001
|
NM_004975.4(KCNB1):c.2083C>A (p.Leu695Ile)
|
rs775433680
|
0.00001
|
NM_004975.4(KCNB1):c.2099G>A (p.Ser700Asn)
|
rs1984201256
|
0.00001
|
NM_004975.4(KCNB1):c.2180C>G (p.Thr727Ser)
|
rs778296598
|
0.00001
|
NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr)
|
rs748597382
|
0.00001
|
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala)
|
rs142461221
|
0.00001
|
NM_004975.4(KCNB1):c.2471G>A (p.Gly824Asp)
|
rs780469478
|
0.00001
|
NM_004975.4(KCNB1):c.2525G>A (p.Arg842His)
|
rs185422169
|
0.00001
|
NM_004975.4(KCNB1):c.2531T>C (p.Leu844Ser)
|
rs1314041160
|
0.00001
|
NM_004984.4(KIF5A):c.2024-8T>G
|
rs190187837
|
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_005045.4(RELN):c.1277G>A (p.Ser426Asn)
|
rs568950079
|
0.00001
|
NM_005045.4(RELN):c.4719G>A (p.Thr1573=)
|
rs370566453
|
0.00001
|
NM_005045.4(RELN):c.4934T>C (p.Ile1645Thr)
|
rs537366000
|
0.00001
|
NM_005045.4(RELN):c.7762A>C (p.Asn2588His)
|
rs569919781
|
0.00001
|
NM_005045.4(RELN):c.9447G>A (p.Ser3149=)
|
rs770503009
|
0.00001
|
NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp)
|
rs553194272
|
0.00001
|
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)
|
rs752300879
|
0.00001
|
NM_005120.3(MED12):c.1140C>T (p.His380=)
|
rs753714929
|
0.00001
|
NM_005120.3(MED12):c.1485+5G>A
|
rs1006276729
|
0.00001
|
NM_005120.3(MED12):c.1974+15C>T
|
rs186876895
|
0.00001
|
NM_005120.3(MED12):c.205-20G>A
|
rs780403920
|
0.00001
|
NM_005120.3(MED12):c.2194G>A (p.Val732Met)
|
rs750304793
|
0.00001
|
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr)
|
rs756039521
|
0.00001
|
NM_005120.3(MED12):c.2265C>T (p.Val755=)
|
rs750186446
|
0.00001
|
NM_005120.3(MED12):c.2280G>A (p.Val760=)
|
rs753948557
|
0.00001
|
NM_005120.3(MED12):c.2422+16C>A
|
rs774516868
|
0.00001
|
NM_005120.3(MED12):c.3609C>T (p.Cys1203=)
|
rs751742488
|
0.00001
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
NM_005120.3(MED12):c.4041T>C (p.Ile1347=)
|
rs769884032
|
0.00001
|
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser)
|
rs1444442163
|
0.00001
|
NM_005120.3(MED12):c.5418G>A (p.Pro1806=)
|
rs770957462
|
0.00001
|
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser)
|
rs758621985
|
0.00001
|
NM_005120.3(MED12):c.5768G>T (p.Gly1923Val)
|
rs1046757174
|
0.00001
|
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser)
|
rs781638379
|
0.00001
|
NM_005120.3(MED12):c.6037A>C (p.Thr2013Pro)
|
rs777453338
|
0.00001
|
NM_005249.5(FOXG1):c.107G>A (p.Ser36Asn)
|
rs1881775466
|
0.00001
|
NM_005249.5(FOXG1):c.1384A>G (p.Ser462Gly)
|
rs752379833
|
0.00001
|
NM_005249.5(FOXG1):c.256C>A (p.Gln86Lys)
|
rs398124202
|
0.00001
|
NM_005249.5(FOXG1):c.275C>T (p.Ala92Val)
|
rs1057520147
|
0.00001
|
NM_005249.5(FOXG1):c.308T>A (p.Leu103Gln)
|
rs1276635464
|
0.00001
|
NM_005249.5(FOXG1):c.378C>T (p.Gly126=)
|
rs572031458
|
0.00001
|
NM_005249.5(FOXG1):c.382G>T (p.Gly128Cys)
|
rs1029176730
|
0.00001
|
NM_005249.5(FOXG1):c.457G>T (p.Gly153Trp)
|
rs1881797133
|
0.00001
|
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=)
|
rs782558280
|
0.00001
|
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)
|
rs782774910
|
0.00001
|
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=)
|
rs375223452
|
0.00001
|
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
|
rs782473277
|
0.00001
|
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=)
|
rs782322654
|
0.00001
|
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile)
|
rs371594842
|
0.00001
|
NM_005359.6(SMAD4):c.*30A>C
|
rs767288576
|
0.00001
|
NM_005359.6(SMAD4):c.*334C>T
|
rs534790830
|
0.00001
|
NM_005359.6(SMAD4):c.*4643T>C
|
rs369040052
|
0.00001
|
NM_005465.7(AKT3):c.1044C>T (p.Asn348=)
|
rs199771220
|
0.00001
|
NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys)
|
rs771251880
|
0.00001
|
NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly)
|
rs576878377
|
0.00001
|
NM_005629.4(SLC6A8):c.1071C>T (p.Phe357=)
|
rs782782179
|
0.00001
|
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His)
|
rs781925657
|
0.00001
|
NM_005629.4(SLC6A8):c.1398G>A (p.Gly466=)
|
rs782030860
|
0.00001
|
NM_005629.4(SLC6A8):c.1404C>T (p.Tyr468=)
|
rs782696303
|
0.00001
|
NM_005629.4(SLC6A8):c.1496-7G>A
|
rs781814962
|
0.00001
|
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg)
|
rs782000377
|
0.00001
|
NM_005629.4(SLC6A8):c.1636G>A (p.Val546Ile)
|
rs1557045675
|
0.00001
|
NM_005629.4(SLC6A8):c.1827G>A (p.Gln609=)
|
rs782185667
|
0.00001
|
NM_005629.4(SLC6A8):c.533C>G (p.Thr178Ser)
|
rs199937648
|
0.00001
|
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His)
|
rs372601430
|
0.00001
|
NM_005629.4(SLC6A8):c.644+20G>A
|
rs782635587
|
0.00001
|
NM_005629.4(SLC6A8):c.678G>A (p.Glu226=)
|
rs782524198
|
0.00001
|
NM_005629.4(SLC6A8):c.71C>T (p.Ala24Val)
|
rs2091436513
|
0.00001
|
NM_005634.3(SOX3):c.753G>C (p.Pro251=)
|
rs557384424
|
0.00001
|
NM_006015.6(ARID1A):c.6709G>A (p.Ala2237Thr)
|
rs746165075
|
0.00001
|
NM_006087.4(TUBB4A):c.210C>T (p.Pro70=)
|
rs557747150
|
0.00001
|
NM_006087.4(TUBB4A):c.510G>A (p.Val170=)
|
rs371280184
|
0.00001
|
NM_006267.5(RANBP2):c.2754G>A (p.Pro918=)
|
rs542711340
|
0.00001
|
NM_006267.5(RANBP2):c.3253A>C (p.Lys1085Gln)
|
rs576035153
|
0.00001
|
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)
|
rs201767993
|
0.00001
|
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu)
|
rs764259746
|
0.00001
|
NM_006772.3(SYNGAP1):c.1350A>G (p.Ala450=)
|
rs751331097
|
0.00001
|
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=)
|
rs559061651
|
0.00001
|
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln)
|
rs761691865
|
0.00001
|
NM_006772.3(SYNGAP1):c.2668C>T (p.Arg890Cys)
|
rs1761097804
|
0.00001
|
NM_006772.3(SYNGAP1):c.2703G>A (p.Ala901=)
|
rs769826724
|
0.00001
|
NM_006772.3(SYNGAP1):c.2760A>G (p.Gln920=)
|
rs1466615976
|
0.00001
|
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu)
|
rs752316341
|
0.00001
|
NM_006772.3(SYNGAP1):c.2881C>T (p.His961Tyr)
|
rs756181133
|
0.00001
|
NM_006772.3(SYNGAP1):c.3179G>T (p.Gly1060Val)
|
rs1422793438
|
0.00001
|
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His)
|
rs764952741
|
0.00001
|
NM_006772.3(SYNGAP1):c.3370G>A (p.Gly1124Arg)
|
rs748702892
|
0.00001
|
NM_006772.3(SYNGAP1):c.3582+4C>T
|
rs376752755
|
0.00001
|
NM_006772.3(SYNGAP1):c.3582+6A>C
|
rs768094841
|
0.00001
|
NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln)
|
rs906055922
|
0.00001
|
NM_006772.3(SYNGAP1):c.3848C>T (p.Pro1283Leu)
|
rs1396355432
|
0.00001
|
NM_006772.3(SYNGAP1):c.4006G>A (p.Glu1336Lys)
|
rs1226494061
|
0.00001
|
NM_006772.3(SYNGAP1):c.603T>G (p.Asp201Glu)
|
rs768682743
|
0.00001
|
NM_006772.3(SYNGAP1):c.76G>A (p.Gly26Arg)
|
rs1554304652
|
0.00001
|
NM_006772.3(SYNGAP1):c.895C>T (p.Arg299Cys)
|
rs1760889495
|
0.00001
|
NM_006796.3(AFG3L2):c.215-5A>C
|
rs371046479
|
0.00001
|
NM_006946.4(SPTBN2):c.4279-8G>A
|
rs369614446
|
0.00001
|
NM_006946.4(SPTBN2):c.6502-9C>T
|
rs545190212
|
0.00001
|
NM_007126.5(VCP):c.1407A>G (p.Val469=)
|
rs761430933
|
0.00001
|
NM_007126.5(VCP):c.2160+8T>G
|
rs564249854
|
0.00001
|
NM_007126.5(VCP):c.465T>G (p.Arg155=)
|
rs765140312
|
0.00001
|
NM_007254.4(PNKP):c.564C>T (p.Gly188=)
|
rs574408360
|
0.00001
|
NM_007254.4(PNKP):c.56C>T (p.Ala19Val)
|
rs201258910
|
0.00001
|
NM_007254.4(PNKP):c.624C>T (p.Ala208=)
|
rs571119317
|
0.00001
|
NM_007327.4(GRIN1):c.1108A>G (p.Thr370Ala)
|
rs746527135
|
0.00001
|
NM_007327.4(GRIN1):c.1149C>T (p.Gly383=)
|
rs138398771
|
0.00001
|
NM_007327.4(GRIN1):c.1335C>T (p.Gly445=)
|
rs370360183
|
0.00001
|
NM_007327.4(GRIN1):c.1468-8C>A
|
rs1588729972
|
0.00001
|
NM_007327.4(GRIN1):c.1516C>T (p.Leu506Phe)
|
rs778079350
|
0.00001
|
NM_007327.4(GRIN1):c.154C>G (p.Arg52Gly)
|
rs950054021
|
0.00001
|
NM_007327.4(GRIN1):c.1716G>A (p.Val572=)
|
rs151030252
|
0.00001
|
NM_007327.4(GRIN1):c.2172-18C>G
|
rs759465840
|
0.00001
|
NM_007327.4(GRIN1):c.2334G>A (p.Lys778=)
|
rs1176826197
|
0.00001
|
NM_007327.4(GRIN1):c.237C>T (p.Cys79=)
|
rs200529044
|
0.00001
|
NM_007327.4(GRIN1):c.264C>T (p.Tyr88=)
|
rs199679287
|
0.00001
|
NM_007327.4(GRIN1):c.700G>A (p.Ala234Thr)
|
rs1464941427
|
0.00001
|
NM_007327.4(GRIN1):c.864G>A (p.Val288=)
|
rs770852927
|
0.00001
|
NM_007327.4(GRIN1):c.969-3T>C
|
rs771650497
|
0.00001
|
NM_007327.4(GRIN1):c.992C>T (p.Ala331Val)
|
rs201324316
|
0.00001
|
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)
|
rs752693324
|
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_013247.4(HTRA2):c.-146G>A
|
rs569404179
|
0.00001
|
NM_013275.6(ANKRD11):c.2889C>T (p.Asp963=)
|
rs139955323
|
0.00001
|
NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg)
|
rs764356904
|
0.00001
|
NM_013275.6(ANKRD11):c.389A>G (p.Asn130Ser)
|
rs745320027
|
0.00001
|
NM_013275.6(ANKRD11):c.5167A>C (p.Arg1723=)
|
rs200482809
|
0.00001
|
NM_013275.6(ANKRD11):c.5196C>T (p.Tyr1732=)
|
rs567432230
|
0.00001
|
NM_013275.6(ANKRD11):c.5412C>T (p.Ser1804=)
|
rs768481687
|
0.00001
|
NM_013275.6(ANKRD11):c.5415C>T (p.Val1805=)
|
rs549029103
|
0.00001
|
NM_013275.6(ANKRD11):c.5998C>T (p.Leu2000Phe)
|
rs777086823
|
0.00001
|
NM_013275.6(ANKRD11):c.6622T>G (p.Ser2208Ala)
|
rs778171762
|
0.00001
|
NM_013275.6(ANKRD11):c.7368C>T (p.Cys2456=)
|
rs139103143
|
0.00001
|
NM_013275.6(ANKRD11):c.7731A>C (p.Ser2577=)
|
rs564437715
|
0.00001
|
NM_013444.4(UBQLN2):c.1734A>G (p.Pro578=)
|
rs1271440811
|
0.00001
|
NM_013444.4(UBQLN2):c.717G>A (p.Arg239=)
|
rs762742451
|
0.00001
|
NM_014249.4(NR2E3):c.864T>A (p.Gly288=)
|
rs537802684
|
0.00001
|
NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=)
|
rs201215945
|
0.00001
|
NM_014334.4(FRRS1L):c.426T>C (p.Gly142=)
|
rs199500767
|
0.00001
|
NM_014334.4(FRRS1L):c.710-4A>C
|
rs372086662
|
0.00001
|
NM_014795.4(ZEB2):c.1327A>G (p.Met443Val)
|
rs763297068
|
0.00001
|
NM_014795.4(ZEB2):c.139G>T (p.Ala47Ser)
|
rs730881184
|
0.00001
|
NM_014795.4(ZEB2):c.150C>T (p.Asp50=)
|
rs587780996
|
0.00001
|
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met)
|
rs780890592
|
0.00001
|
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp)
|
rs767506087
|
0.00001
|
NM_014795.4(ZEB2):c.2043G>A (p.Val681=)
|
rs769391382
|
0.00001
|
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser)
|
rs144154908
|
0.00001
|
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)
|
rs1490526407
|
0.00001
|
NM_014795.4(ZEB2):c.2565C>G (p.Asn855Lys)
|
rs904620951
|
0.00001
|
NM_014795.4(ZEB2):c.26G>A (p.Gly9Asp)
|
rs1242134764
|
0.00001
|
NM_014795.4(ZEB2):c.2804T>C (p.Met935Thr)
|
rs201902790
|
0.00001
|
NM_014795.4(ZEB2):c.28C>T (p.Pro10Ser)
|
rs1451219938
|
0.00001
|
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr)
|
rs730881187
|
0.00001
|
NM_014795.4(ZEB2):c.467G>A (p.Arg156His)
|
rs1250217464
|
0.00001
|
NM_014795.4(ZEB2):c.593-8G>A
|
rs772118840
|
0.00001
|
NM_014946.4(SPAST):c.137A>G (p.His46Arg)
|
rs778952334
|
0.00001
|
NM_015046.7(SETX):c.*2232T>C
|
rs545456048
|
0.00001
|
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)
|
rs768198537
|
0.00001
|
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)
|
rs750044197
|
0.00001
|
NM_015046.7(SETX):c.1714C>G (p.Leu572Val)
|
rs1482836809
|
0.00001
|
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys)
|
rs773035724
|
0.00001
|
NM_015046.7(SETX):c.1889C>T (p.Thr630Met)
|
rs749132753
|
0.00001
|
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)
|
rs780898043
|
0.00001
|
NM_015046.7(SETX):c.208A>G (p.Ile70Val)
|
rs747469176
|
0.00001
|
NM_015046.7(SETX):c.2119A>G (p.Ile707Val)
|
rs1419145387
|
0.00001
|
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)
|
rs750530263
|
0.00001
|
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)
|
rs780121182
|
0.00001
|
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)
|
rs745938575
|
0.00001
|
NM_015046.7(SETX):c.2427C>G (p.Ile809Met)
|
rs765654690
|
0.00001
|
NM_015046.7(SETX):c.245G>A (p.Gly82Glu)
|
rs201864041
|
0.00001
|
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala)
|
rs1375463032
|
0.00001
|
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)
|
rs1285317289
|
0.00001
|
NM_015046.7(SETX):c.301A>G (p.Ile101Val)
|
rs376848704
|
0.00001
|
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)
|
rs766799023
|
0.00001
|
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile)
|
rs773068299
|
0.00001
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp)
|
rs200072123
|
0.00001
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)
|
rs375796832
|
0.00001
|
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe)
|
rs750526955
|
0.00001
|
NM_015046.7(SETX):c.382C>T (p.Arg128Cys)
|
rs552476047
|
0.00001
|
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val)
|
rs558075773
|
0.00001
|
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys)
|
rs752179261
|
0.00001
|
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser)
|
rs567825753
|
0.00001
|
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys)
|
rs762808367
|
0.00001
|
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn)
|
rs770527045
|
0.00001
|
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr)
|
rs766799310
|
0.00001
|
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu)
|
rs1249423284
|
0.00001
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg)
|
rs377620145
|
0.00001
|
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser)
|
rs747493129
|
0.00001
|
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr)
|
rs141440621
|
0.00001
|
NM_015046.7(SETX):c.5936G>A (p.Arg1979His)
|
rs761031238
|
0.00001
|
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)
|
rs546932016
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.64G>A (p.Ala22Thr)
|
rs756600708
|
0.00001
|
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu)
|
rs752107891
|
0.00001
|
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met)
|
rs201629099
|
0.00001
|
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)
|
rs760196991
|
0.00001
|
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg)
|
rs755711135
|
0.00001
|
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg)
|
rs756715534
|
0.00001
|
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)
|
rs1240232139
|
0.00001
|
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)
|
rs145345675
|
0.00001
|
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala)
|
rs905773255
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val)
|
rs144706487
|
0.00001
|
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)
|
rs779793402
|
0.00001
|
NM_015046.7(SETX):c.808A>G (p.Ile270Val)
|
rs1387745582
|
0.00001
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
NM_015046.7(SETX):c.964G>A (p.Ala322Thr)
|
rs540348550
|
0.00001
|
NM_015046.7(SETX):c.998A>G (p.Asn333Ser)
|
rs538829833
|
0.00001
|
NM_015192.4(PLCB1):c.2414-14T>G
|
rs755970261
|
0.00001
|
NM_015192.4(PLCB1):c.288G>T (p.Gly96=)
|
rs200521017
|
0.00001
|
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro)
|
rs778886643
|
0.00001
|
NM_015915.5(ATL1):c.921C>T (p.Pro307=)
|
rs535790981
|
0.00001
|
NM_016032.4(ZDHHC9):c.487+17G>A
|
rs572453121
|
0.00001
|
NM_016032.4(ZDHHC9):c.979-18A>G
|
rs202246689
|
0.00001
|
NM_016169.4(SUFU):c.645C>T (p.Asn215=)
|
rs551772204
|
0.00001
|
NM_016373.4(WWOX):c.538A>G (p.Met180Val)
|
rs569297468
|
0.00001
|
NM_016729.3(FOLR1):c.261C>T (p.Asn87=)
|
rs375444839
|
0.00001
|
NM_018026.4(PACS1):c.1491-4G>C
|
rs1000498364
|
0.00001
|
NM_018026.4(PACS1):c.2378C>T (p.Thr793Met)
|
rs763210681
|
0.00001
|
NM_018026.4(PACS1):c.2776+5G>A
|
rs371976817
|
0.00001
|
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser)
|
rs767885129
|
0.00001
|
NM_018026.4(PACS1):c.691G>C (p.Val231Leu)
|
rs754155683
|
0.00001
|
NM_018100.4(EFHC1):c.1821C>T (p.Asn607=)
|
rs777238548
|
0.00001
|
NM_018206.6(VPS35):c.*354G>C
|
rs572048744
|
0.00001
|
NM_018206.6(VPS35):c.2122A>C (p.Asn708His)
|
rs199940967
|
0.00001
|
NM_018325.5(C9orf72):c.*651G>T
|
rs548883941
|
0.00001
|
NM_018834.6(MATR3):c.*2194T>A
|
rs760576225
|
0.00001
|
NM_018834.6(MATR3):c.*305A>C
|
rs563125595
|
0.00001
|
NM_018834.6(MATR3):c.*97C>G
|
rs769044248
|
0.00001
|
NM_018834.6(MATR3):c.2271T>C (p.Asp757=)
|
rs753870064
|
0.00001
|
NM_020631.6(PLEKHG5):c.2250-13C>T
|
rs547780813
|
0.00001
|
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=)
|
rs773624292
|
0.00001
|
NM_020717.5(SHROOM4):c.3942+48T>C
|
rs781925536
|
0.00001
|
NM_020822.3(KCNT1):c.1257C>G (p.Val419=)
|
rs547714141
|
0.00001
|
NM_020919.4(ALS2):c.2171-13T>C
|
rs188659196
|
0.00001
|
NM_020988.3(GNAO1):c.274G>A (p.Gly92Ser)
|
rs1309389793
|
0.00001
|
NM_020988.3(GNAO1):c.338G>A (p.Arg113Gln)
|
rs956210011
|
0.00001
|
NM_020988.3(GNAO1):c.397G>A (p.Gly133Ser)
|
rs374115337
|
0.00001
|
NM_020988.3(GNAO1):c.399C>T (p.Gly133=)
|
rs556058539
|
0.00001
|
NM_020988.3(GNAO1):c.464+18C>T
|
rs568682649
|
0.00001
|
NM_021072.4(HCN1):c.2231C>T (p.Pro744Leu)
|
rs1252725512
|
0.00001
|
NM_021072.4(HCN1):c.828A>G (p.Arg276=)
|
rs1417499521
|
0.00001
|
NM_021098.3(CACNA1H):c.1074C>T (p.Ala358=)
|
rs531691647
|
0.00001
|
NM_021098.3(CACNA1H):c.1137C>T (p.Gly379=)
|
rs751019130
|
0.00001
|
NM_021098.3(CACNA1H):c.1189A>G (p.Ile397Val)
|
rs574543676
|
0.00001
|
NM_021098.3(CACNA1H):c.1198A>G (p.Ile400Val)
|
rs1196061479
|
0.00001
|
NM_021098.3(CACNA1H):c.1213-9C>G
|
rs769924135
|
0.00001
|
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys)
|
rs746748953
|
0.00001
|
NM_021098.3(CACNA1H):c.1459C>T (p.Arg487Cys)
|
rs907429190
|
0.00001
|
NM_021098.3(CACNA1H):c.1538C>T (p.Ser513Leu)
|
rs1333592686
|
0.00001
|
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His)
|
rs1230959391
|
0.00001
|
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu)
|
rs1481524583
|
0.00001
|
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys)
|
rs761025927
|
0.00001
|
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr)
|
rs902030420
|
0.00001
|
NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr)
|
rs1056058034
|
0.00001
|
NM_021098.3(CACNA1H):c.1684C>G (p.Pro562Ala)
|
rs1474486162
|
0.00001
|
NM_021098.3(CACNA1H):c.1690C>T (p.Arg564Cys)
|
rs1316230541
|
0.00001
|
NM_021098.3(CACNA1H):c.1705G>A (p.Ala569Thr)
|
rs752986607
|
0.00001
|
NM_021098.3(CACNA1H):c.1741C>T (p.His581Tyr)
|
rs752153295
|
0.00001
|
NM_021098.3(CACNA1H):c.1765G>A (p.Ala589Thr)
|
rs769240762
|
0.00001
|
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)
|
rs544916201
|
0.00001
|
NM_021098.3(CACNA1H):c.1913G>T (p.Gly638Val)
|
rs771036445
|
0.00001
|
NM_021098.3(CACNA1H):c.1937A>C (p.His646Pro)
|
rs767196759
|
0.00001
|
NM_021098.3(CACNA1H):c.1982C>T (p.Pro661Leu)
|
rs780376174
|
0.00001
|
NM_021098.3(CACNA1H):c.2031G>A (p.Ser677=)
|
rs3751663
|
0.00001
|
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met)
|
rs779476529
|
0.00001
|
NM_021098.3(CACNA1H):c.2242G>A (p.Ala748Thr)
|
rs746275171
|
0.00001
|
NM_021098.3(CACNA1H):c.2279A>C (p.Gln760Pro)
|
rs764592377
|
0.00001
|
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln)
|
rs757946905
|
0.00001
|
NM_021098.3(CACNA1H):c.2284C>T (p.Arg762Trp)
|
rs777503810
|
0.00001
|
NM_021098.3(CACNA1H):c.2306C>T (p.Pro769Leu)
|
rs540638287
|
0.00001
|
NM_021098.3(CACNA1H):c.2537C>T (p.Ala846Val)
|
rs779724136
|
0.00001
|
NM_021098.3(CACNA1H):c.3015G>A (p.Val1005=)
|
rs369161410
|
0.00001
|
NM_021098.3(CACNA1H):c.3064-15C>T
|
rs371897810
|
0.00001
|
NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=)
|
rs575176246
|
0.00001
|
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His)
|
rs764071122
|
0.00001
|
NM_021098.3(CACNA1H):c.3355A>G (p.Lys1119Glu)
|
rs1489047777
|
0.00001
|
NM_021098.3(CACNA1H):c.3374G>A (p.Arg1125Gln)
|
rs771952308
|
0.00001
|
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg)
|
rs772258959
|
0.00001
|
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val)
|
rs778186545
|
0.00001
|
NM_021098.3(CACNA1H):c.3563C>T (p.Pro1188Leu)
|
rs894257173
|
0.00001
|
NM_021098.3(CACNA1H):c.3565C>T (p.Arg1189Cys)
|
rs761063520
|
0.00001
|
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp)
|
rs1399681066
|
0.00001
|
NM_021098.3(CACNA1H):c.362G>A (p.Arg121Gln)
|
rs201931839
|
0.00001
|
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn)
|
rs771215852
|
0.00001
|
NM_021098.3(CACNA1H):c.3697G>A (p.Asp1233Asn)
|
rs768716174
|
0.00001
|
NM_021098.3(CACNA1H):c.3698A>T (p.Asp1233Val)
|
rs774604155
|
0.00001
|
NM_021098.3(CACNA1H):c.3699C>T (p.Asp1233=)
|
rs369155203
|
0.00001
|
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp)
|
rs751642419
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+8G>A
|
rs555282047
|
0.00001
|
NM_021098.3(CACNA1H):c.4465A>G (p.Asn1489Asp)
|
rs750626623
|
0.00001
|
NM_021098.3(CACNA1H):c.4804G>A (p.Asp1602Asn)
|
rs201296407
|
0.00001
|
NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His)
|
rs761945003
|
0.00001
|
NM_021098.3(CACNA1H):c.5445+7G>A
|
rs563361414
|
0.00001
|
NM_021098.3(CACNA1H):c.552G>A (p.Met184Ile)
|
rs376566207
|
0.00001
|
NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp)
|
rs899082537
|
0.00001
|
NM_021098.3(CACNA1H):c.5687C>T (p.Ala1896Val)
|
rs139080716
|
0.00001
|
NM_021098.3(CACNA1H):c.5765C>T (p.Ser1922Phe)
|
rs919557968
|
0.00001
|
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu)
|
rs756181994
|
0.00001
|
NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met)
|
rs754166849
|
0.00001
|
NM_021098.3(CACNA1H):c.5788G>A (p.Asp1930Asn)
|
rs371573041
|
0.00001
|
NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val)
|
rs59950911
|
0.00001
|
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu)
|
rs769441475
|
0.00001
|
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu)
|
rs921830082
|
0.00001
|
NM_021098.3(CACNA1H):c.5917G>A (p.Ala1973Thr)
|
rs1003957584
|
0.00001
|
NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His)
|
rs1312406661
|
0.00001
|
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=)
|
rs766357140
|
0.00001
|
NM_021098.3(CACNA1H):c.6158G>T (p.Gly2053Val)
|
rs1387716276
|
0.00001
|
NM_021098.3(CACNA1H):c.622C>T (p.Arg208Cys)
|
rs758015873
|
0.00001
|
NM_021098.3(CACNA1H):c.6238T>A (p.Ser2080Thr)
|
rs761247671
|
0.00001
|
NM_021098.3(CACNA1H):c.6248C>T (p.Pro2083Leu)
|
rs759924732
|
0.00001
|
NM_021098.3(CACNA1H):c.6314C>T (p.Thr2105Ile)
|
rs756344458
|
0.00001
|
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala)
|
rs1025586071
|
0.00001
|
NM_021098.3(CACNA1H):c.6358C>A (p.Pro2120Thr)
|
rs1225788473
|
0.00001
|
NM_021098.3(CACNA1H):c.6389G>A (p.Arg2130Gln)
|
rs776993441
|
0.00001
|
NM_021098.3(CACNA1H):c.6459G>C (p.Gln2153His)
|
rs534707181
|
0.00001
|
NM_021098.3(CACNA1H):c.6470C>T (p.Ser2157Leu)
|
rs779547523
|
0.00001
|
NM_021098.3(CACNA1H):c.6474G>A (p.Ala2158=)
|
rs747394862
|
0.00001
|
NM_021098.3(CACNA1H):c.6485G>T (p.Ser2162Ile)
|
rs745906833
|
0.00001
|
NM_021098.3(CACNA1H):c.6613C>T (p.Arg2205Trp)
|
rs760985703
|
0.00001
|
NM_021098.3(CACNA1H):c.6614G>T (p.Arg2205Leu)
|
rs967347672
|
0.00001
|
NM_021098.3(CACNA1H):c.6692C>A (p.Ser2231Tyr)
|
rs746267333
|
0.00001
|
NM_021098.3(CACNA1H):c.6709G>C (p.Gly2237Arg)
|
rs899655295
|
0.00001
|
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His)
|
rs554435610
|
0.00001
|
NM_021098.3(CACNA1H):c.6764C>T (p.Ser2255Phe)
|
rs746214213
|
0.00001
|
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile)
|
rs750732485
|
0.00001
|
NM_021098.3(CACNA1H):c.6804T>G (p.Phe2268Leu)
|
rs766207096
|
0.00001
|
NM_021098.3(CACNA1H):c.681G>T (p.Leu227=)
|
rs760361360
|
0.00001
|
NM_021098.3(CACNA1H):c.6928C>T (p.Pro2310Ser)
|
rs778466215
|
0.00001
|
NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln)
|
rs1468102052
|
0.00001
|
NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg)
|
rs753077813
|
0.00001
|
NM_021098.3(CACNA1H):c.7000G>C (p.Glu2334Gln)
|
rs1203994251
|
0.00001
|
NM_021098.3(CACNA1H):c.7019C>T (p.Ser2340Leu)
|
rs1466647338
|
0.00001
|
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val)
|
rs1418372954
|
0.00001
|
NM_021098.3(CACNA1H):c.7058T>A (p.Val2353Glu)
|
rs990512900
|
0.00001
|
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys)
|
rs773167797
|
0.00001
|
NM_021098.3(CACNA1H):c.868A>G (p.Ile290Val)
|
rs200009613
|
0.00001
|
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln)
|
rs749305814
|
0.00001
|
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=)
|
rs57740463
|
0.00001
|
NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys)
|
rs758039020
|
0.00001
|
NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile)
|
rs997846742
|
0.00001
|
NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu)
|
rs375274586
|
0.00001
|
NM_021098.3(CACNA1H):c.97C>T (p.Pro33Ser)
|
rs1163327322
|
0.00001
|
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp)
|
rs747326278
|
0.00001
|
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=)
|
rs189872222
|
0.00001
|
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)
|
rs548909101
|
0.00001
|
NM_021830.5(TWNK):c.1244-14C>T
|
rs758757135
|
0.00001
|
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)
|
rs549767223
|
0.00001
|
NM_022168.4(IFIH1):c.1096-10T>A
|
rs773810038
|
0.00001
|
NM_022168.4(IFIH1):c.622+15A>G
|
rs200515533
|
0.00001
|
NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter)
|
rs762821474
|
0.00001
|
NM_025136.4(OPA3):c.*1052C>T
|
rs539341907
|
0.00001
|
NM_025137.4(SPG11):c.4512A>T (p.Gly1504=)
|
rs539384073
|
0.00001
|
NM_025219.3(DNAJC5):c.*1604C>T
|
rs554749952
|
0.00001
|
NM_025219.3(DNAJC5):c.*1936T>C
|
rs574966040
|
0.00001
|
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu)
|
rs368364131
|
0.00001
|
NM_031206.7(LAS1L):c.763C>T (p.His255Tyr)
|
rs1367442721
|
0.00001
|
NM_031844.3(HNRNPU):c.1405A>G (p.Ile469Val)
|
rs370427995
|
0.00001
|
NM_031844.3(HNRNPU):c.1743+4C>T
|
rs115917666
|
0.00001
|
NM_031844.3(HNRNPU):c.206G>C (p.Arg69Pro)
|
rs754427497
|
0.00001
|
NM_031844.3(HNRNPU):c.2167+15A>C
|
rs780932517
|
0.00001
|
NM_031844.3(HNRNPU):c.2168-6T>A
|
rs1283465496
|
0.00001
|
NM_032193.4(RNASEH2C):c.198C>T (p.Arg66=)
|
rs200792226
|
0.00001
|
NM_032409.3(PINK1):c.1481C>T (p.Ala494Val)
|
rs542258150
|
0.00001
|
NM_032581.4(HYCC1):c.432C>G (p.Ser144=)
|
rs753378227
|
0.00001
|
NM_032737.4(LMNB2):c.1482+20C>T
|
rs763504322
|
0.00001
|
NM_032737.4(LMNB2):c.624G>A (p.Leu208=)
|
rs1305321896
|
0.00001
|
NM_032776.3(JMJD1C):c.2349T>G (p.Thr783=)
|
rs755118052
|
0.00001
|
NM_033305.3(VPS13A):c.2296A>G (p.Ile766Val)
|
rs576941423
|
0.00001
|
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=)
|
rs527418139
|
0.00001
|
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)
|
rs752134753
|
0.00001
|
NM_033343.4(LHX4):c.1160A>C (p.His387Pro)
|
rs200187045
|
0.00001
|
NM_033629.6(TREX1):c.879G>C (p.Leu293=)
|
rs368090024
|
0.00001
|
NM_052874.5(STX1B):c.355-8C>G
|
rs772649813
|
0.00001
|
NM_052874.5(STX1B):c.828G>A (p.Val276=)
|
rs202028644
|
0.00001
|
NM_052874.5(STX1B):c.96C>T (p.Phe32=)
|
rs758734411
|
0.00001
|
NM_080632.3(UPF3B):c.265T>C (p.Leu89=)
|
rs761622396
|
0.00001
|
NM_130837.3(OPA1):c.*228A>G
|
rs577816325
|
0.00001
|
NM_139058.3(ARX):c.1521C>A (p.Ala507=)
|
rs777179729
|
0.00001
|
NM_139058.3(ARX):c.738C>T (p.Asp246=)
|
rs750465338
|
0.00001
|
NM_139318.5(KCNH5):c.1202G>A (p.Arg401His)
|
rs1461051682
|
0.00001
|
NM_139318.5(KCNH5):c.1513G>A (p.Val505Ile)
|
rs1480621890
|
0.00001
|
NM_139318.5(KCNH5):c.15G>C (p.Lys5Asn)
|
rs775719605
|
0.00001
|
NM_139318.5(KCNH5):c.1822+18A>C
|
rs572126581
|
0.00001
|
NM_139318.5(KCNH5):c.1847T>A (p.Ile616Asn)
|
rs753938626
|
0.00001
|
NM_139318.5(KCNH5):c.195C>T (p.Cys65=)
|
rs552906500
|
0.00001
|
NM_139318.5(KCNH5):c.2152G>C (p.Glu718Gln)
|
rs1308657380
|
0.00001
|
NM_139318.5(KCNH5):c.2242A>G (p.Thr748Ala)
|
rs751206598
|
0.00001
|
NM_139318.5(KCNH5):c.2335C>T (p.Arg779Cys)
|
rs200292403
|
0.00001
|
NM_139318.5(KCNH5):c.2447A>G (p.Asn816Ser)
|
rs756083906
|
0.00001
|
NM_139318.5(KCNH5):c.2631G>A (p.Lys877=)
|
rs759173309
|
0.00001
|
NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)
|
rs559380161
|
0.00001
|
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)
|
rs370511776
|
0.00001
|
NM_152296.5(ATP1A3):c.153+7C>T
|
rs782082118
|
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_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu)
|
rs779782582
|
0.00001
|
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=)
|
rs572479795
|
0.00001
|
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)
|
rs533701597
|
0.00001
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
0.00001
|
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln)
|
rs370701337
|
0.00001
|
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=)
|
rs199552885
|
0.00001
|
NM_152641.4(ARID2):c.4769C>T (p.Pro1590Leu)
|
rs765441891
|
0.00001
|
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=)
|
rs571386763
|
0.00001
|
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=)
|
rs564630217
|
0.00001
|
NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=)
|
rs536366837
|
0.00001
|
NM_172107.4(KCNQ2):c.804C>T (p.Leu268=)
|
rs775450377
|
0.00001
|
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=)
|
rs370760854
|
0.00001
|
NM_173354.5(SIK1):c.1129G>A (p.Glu377Lys)
|
rs1374242563
|
0.00001
|
NM_177550.5(SLC13A5):c.717-16C>T
|
rs558529852
|
0.00001
|
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=)
|
rs149393972
|
0.00001
|
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val)
|
rs566004273
|
0.00001
|
NM_198578.4(LRRK2):c.3496+9T>G
|
rs560559629
|
0.00001
|
NM_198578.4(LRRK2):c.4537-6T>C
|
rs779382508
|
0.00001
|
NM_198578.4(LRRK2):c.4611G>A (p.Glu1537=)
|
rs575429866
|
0.00001
|
NM_198578.4(LRRK2):c.834A>G (p.Thr278=)
|
rs199626996
|
0.00001
|
NM_198586.3(NHLRC1):c.504G>T (p.Gly168=)
|
rs529490452
|
0.00001
|
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=)
|
rs567814417
|
0.00001
|
NM_198859.4(PRICKLE2):c.6G>A (p.Val2=)
|
rs201779407
|
0.00001
|
NM_198904.4(GABRG2):c.1002G>A (p.Ala334=)
|
rs371601817
|
0.00001
|
NM_198904.4(GABRG2):c.17T>C (p.Ile6Thr)
|
rs759392289
|
0.00001
|
NM_203446.3(SYNJ1):c.1971T>C (p.Thr657=)
|
rs574400482
|
0.00001
|
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys)
|
rs114994257
|
0.00001
|
GRCh37/hg19 5q34(chr5:160715688-160717804)
|
|
|
GRCh37/hg19 5q34(chr5:160796703-160797020)
|
|
|
NC_000002.11:g.(?_241656761)_(241709143_?)del
|
|
|
NC_000002.11:g.(?_241656781)_(241709133_?)dup
|
|
|
NC_000002.11:g.(?_241656781)_(241709143_?)dup
|
|
|
NC_000003.12:g.167735251T>C
|
rs9853967
|
|
NC_000004.11:g.3076606GCA[(?_26)]
|
|
|
NC_000005.10:g.1448033A>G
|
|
|
NC_000009.12:g.34637993_34637994delinsAA
|
rs371780375
|
|
NC_000014.9:g.73136378del
|
rs148370307
|
|
NC_000015.9:g.(?_23086214)_(23086411_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
NC_000021.8:g.(?_44836602)_(44837674_?)dup
|
|
|
NC_000021.8:g.(?_44836622)_(44837654_?)dup
|
|
|
NC_000021.8:g.(?_44836622)_(44837664_?)dup
|
|
|
NM_000021.4(PSEN1):c.*3538C>G
|
rs362392
|
|
NM_000021.4(PSEN1):c.*3831C>T
|
rs362395
|
|
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)
|
|
|
NM_000021.4(PSEN1):c.549-4dup
|
rs763991845
|
|
NM_000021.4(PSEN1):c.843G>C (p.Thr281=)
|
rs186495252
|
|
NM_000030.3(AGXT):c.-23G>A
|
rs116057889
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
NM_000030.3(AGXT):c.358+163G>T
|
rs11681134
|
|
NM_000030.3(AGXT):c.839C>T (p.Ala280Val)
|
rs73106685
|
|
NM_000033.4(ABCD1):c.1014G>A (p.Val338=)
|
|
|
NM_000033.4(ABCD1):c.1077G>A (p.Glu359=)
|
|
|
NM_000033.4(ABCD1):c.1082-19C>G
|
rs374337788
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1098G>A (p.Lys366=)
|
|
|
NM_000033.4(ABCD1):c.1120G>A (p.Glu374Lys)
|
|
|
NM_000033.4(ABCD1):c.1126G>C (p.Glu376Gln)
|
|
|
NM_000033.4(ABCD1):c.1185T>C (p.Ala395=)
|
|
|
NM_000033.4(ABCD1):c.1299C>T (p.His433=)
|
|
|
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=)
|
rs782419455
|
|
NM_000033.4(ABCD1):c.1366C>T (p.Arg456Cys)
|
|
|
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His)
|
rs782159028
|
|
NM_000033.4(ABCD1):c.1394-18G>A
|
|
|
NM_000033.4(ABCD1):c.1394-19C>T
|
|
|
NM_000033.4(ABCD1):c.1489-24C>G
|
rs149185761
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1634+13G>A
|
|
|
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu)
|
rs79383557
|
|
NM_000033.4(ABCD1):c.1781-7del
|
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=)
|
rs782327280
|
|
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu)
|
rs368462762
|
|
NM_000033.4(ABCD1):c.243G>C (p.Leu81=)
|
|
|
NM_000033.4(ABCD1):c.265C>T (p.Arg89Trp)
|
|
|
NM_000033.4(ABCD1):c.402G>A (p.Leu134=)
|
|
|
NM_000033.4(ABCD1):c.424C>G (p.Leu142Val)
|
|
|
NM_000033.4(ABCD1):c.475G>A (p.Ala159Thr)
|
|
|
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)
|
rs782601474
|
|
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)
|
|
|
NM_000033.4(ABCD1):c.772C>T (p.Leu258=)
|
|
|
NM_000033.4(ABCD1):c.900+6dup
|
|
|
NM_000033.4(ABCD1):c.901-5del
|
rs782805046
|
|
NM_000033.4(ABCD1):c.901-5dup
|
|
|
NM_000044.4(AR):c.172_174CAG(7_34) (p.Gln66_Gln80del)
|
|
|
NM_000044.6(AR):c.1014A>C (p.Thr338=)
|
|
|
NM_000044.6(AR):c.1062C>G (p.Asp354Glu)
|
|
|
NM_000044.6(AR):c.1149C>T (p.Pro383=)
|
|
|
NM_000044.6(AR):c.1157G>A (p.Arg386His)
|
|
|
NM_000044.6(AR):c.1186G>C (p.Gly396Arg)
|
|
|
NM_000044.6(AR):c.1194C>T (p.Ala398=)
|
|
|
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
|
|
|
NM_000044.6(AR):c.1243C>T (p.His415Tyr)
|
|
|
NM_000044.6(AR):c.1323C>G (p.Ala441=)
|
|
|
NM_000044.6(AR):c.1365TGG[3] (p.Gly473_Glu474insGly)
|
|
|
NM_000044.6(AR):c.1370GCG[10] (p.Gly467_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[11] (p.Gly468_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[18] (p.Gly473dup)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[8] (p.Gly465_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[9] (p.Gly466_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370_1371insAGG (p.Gly473_Glu474insGly)
|
|
|
NM_000044.6(AR):c.1370_1371insTGGCGGCGG (p.Gly471_Gly473dup)
|
rs760580125
|
|
NM_000044.6(AR):c.1370_1371insTGGCGGCGGCGG (p.Gly470_Gly473dup)
|
rs760580125
|
|
NM_000044.6(AR):c.1443C>T (p.Tyr481=)
|
|
|
NM_000044.6(AR):c.1479G>A (p.Gln493=)
|
|
|
NM_000044.6(AR):c.1484G>A (p.Ser495Asn)
|
|
|
NM_000044.6(AR):c.1542T>C (p.Tyr514=)
|
|
|
NM_000044.6(AR):c.1617-13dup
|
|
|
NM_000044.6(AR):c.1617-19G>T
|
|
|
NM_000044.6(AR):c.1656T>C (p.Tyr552=)
|
|
|
NM_000044.6(AR):c.1675A>T (p.Thr559Ser)
|
|
|
NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_000044.6(AR):c.1719A>G (p.Gly573=)
|
|
|
NM_000044.6(AR):c.171GCA[11] (p.Gln69_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[13] (p.Gln71_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[15] (p.Gln73_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[16] (p.Gln74_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[17] (p.Gln75_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[19] (p.Gln77_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[22] (p.Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[30] (p.Gln74_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.1737C>T (p.Ser579=)
|
|
|
NM_000044.6(AR):c.1761C>T (p.Ala587=)
|
|
|
NM_000044.6(AR):c.1815T>C (p.Asp605=)
|
|
|
NM_000044.6(AR):c.1854G>A (p.Arg618=)
|
|
|
NM_000044.6(AR):c.1885+13T>C
|
|
|
NM_000044.6(AR):c.1886-10T>C
|
|
|
NM_000044.6(AR):c.1926G>A (p.Glu642=)
|
|
|
NM_000044.6(AR):c.2016C>A (p.Pro672=)
|
|
|
NM_000044.6(AR):c.2017A>G (p.Ile673Val)
|
|
|
NM_000044.6(AR):c.2052T>C (p.Gly684=)
|
|
|
NM_000044.6(AR):c.2070C>T (p.His690=)
|
|
|
NM_000044.6(AR):c.2073C>T (p.Asp691=)
|
|
|
NM_000044.6(AR):c.2085C>T (p.Pro695=)
|
|
|
NM_000044.6(AR):c.2106C>T (p.Leu702=)
|
|
|
NM_000044.6(AR):c.2179C>T (p.Arg727Cys)
|
|
|
NM_000044.6(AR):c.2190C>T (p.His730=)
|
|
|
NM_000044.6(AR):c.2196C>T (p.Asp732=)
|
|
|
NM_000044.6(AR):c.2295C>T (p.Phe765=)
|
|
|
NM_000044.6(AR):c.2318+7G>T
|
|
|
NM_000044.6(AR):c.2319-10T>C
|
|
|
NM_000044.6(AR):c.2319-17G>A
|
|
|
NM_000044.6(AR):c.2319-9C>T
|
|
|
NM_000044.6(AR):c.2403C>T (p.Thr801=)
|
|
|
NM_000044.6(AR):c.2406C>A (p.Pro802=)
|
|
|
NM_000044.6(AR):c.2481C>A (p.Phe827Leu)
|
|
|
NM_000044.6(AR):c.2526C>T (p.Ile842=)
|
|
|
NM_000044.6(AR):c.2580C>A (p.Leu860=)
|
|
|
NM_000044.6(AR):c.2607+10C>T
|
|
|
NM_000044.6(AR):c.2607+12A>G
|
|
|
NM_000044.6(AR):c.2608-17C>T
|
|
|
NM_000044.6(AR):c.2608-17_2608-16del
|
rs749355366
|
|
NM_000044.6(AR):c.2608-6C>T
|
|
|
NM_000044.6(AR):c.2613G>A (p.Ala871=)
|
|
|
NM_000044.6(AR):c.2679G>A (p.Pro893=)
|
|
|
NM_000044.6(AR):c.270G>T (p.Gln90His)
|
|
|
NM_000044.6(AR):c.302G>A (p.Arg101His)
|
|
|
NM_000044.6(AR):c.39G>A (p.Arg13=)
|
|
|
NM_000044.6(AR):c.414C>G (p.Ala138=)
|
|
|
NM_000044.6(AR):c.458C>T (p.Pro153Leu)
|
|
|
NM_000044.6(AR):c.45G>A (p.Pro15=)
|
|
|
NM_000044.6(AR):c.462C>T (p.Asp154=)
|
|
|
NM_000044.6(AR):c.519C>G (p.Gly173=)
|
|
|
NM_000044.6(AR):c.609C>A (p.Ser203=)
|
|
|
NM_000044.6(AR):c.621C>G (p.Ser207Arg)
|
|
|
NM_000044.6(AR):c.646G>A (p.Gly216Arg)
|
rs199554641
|
|
NM_000044.6(AR):c.654C>T (p.Pro218=)
|
rs751027309
|
|
NM_000044.6(AR):c.747G>A (p.Leu249=)
|
|
|
NM_000044.6(AR):c.807C>T (p.Tyr269=)
|
|
|
NM_000044.6(AR):c.986G>T (p.Gly329Val)
|
|
|
NM_000049.4(ASPA):c.693C>T (p.Tyr231=)
|
rs12948217
|
|
NM_000049.4(ASPA):c.831C>T (p.Thr277=)
|
rs78677072
|
|
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
|
|
|
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
|
|
|
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
|
|
|
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
|
|
|
NM_000052.7(ATP7A):c.1707+16del
|
|
|
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile)
|
rs372116692
|
|
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
|
|
|
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
|
|
|
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
|
|
|
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
NM_000052.7(ATP7A):c.2172+8_2172+12dup
|
rs782170618
|
|
NM_000052.7(ATP7A):c.2173-15A>G
|
|
|
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
|
|
|
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
|
|
|
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
|
|
|
NM_000052.7(ATP7A):c.2406+20C>T
|
|
|
NM_000052.7(ATP7A):c.2407-10del
|
|
|
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr)
|
rs782768766
|
|
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
|
|
|
NM_000052.7(ATP7A):c.2782-17_2782-15del
|
|
|
NM_000052.7(ATP7A):c.3112-5dup
|
rs1569550186
|
|
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
|
|
|
NM_000052.7(ATP7A):c.3294+12dup
|
rs1223290704
|
|
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
|
|
|
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
|
|
|
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
|
|
|
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
|
rs782688596
|
|
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
|
|
|
NM_000052.7(ATP7A):c.3801+13G>T
|
|
|
NM_000052.7(ATP7A):c.3802-12T>C
|
|
|
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
|
|
|
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=)
|
rs372489000
|
|
NM_000052.7(ATP7A):c.4005+12G>A
|
|
|
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
|
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
|
|
|
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
|
|
|
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
|
|
|
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
|
|
|
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
|
|
|
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
|
|
|
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
|
|
|
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
|
|
|
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
|
|
|
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
|
|
|
NM_000061.3(BTK):c.1011T>C (p.Cys337=)
|
|
|
NM_000061.3(BTK):c.1102+7A>G
|
|
|
NM_000061.3(BTK):c.1177+7C>T
|
|
|
NM_000061.3(BTK):c.1178-12C>T
|
|
|
NM_000061.3(BTK):c.1485T>C (p.Thr495=)
|
|
|
NM_000061.3(BTK):c.1539G>A (p.Glu513=)
|
|
|
NM_000061.3(BTK):c.1631+71C>T
|
rs2071223
|
|
NM_000061.3(BTK):c.1632-20A>C
|
|
|
NM_000061.3(BTK):c.1751-17T>C
|
|
|
NM_000061.3(BTK):c.240+12_240+24del
|
|
|
NM_000061.3(BTK):c.241-16dup
|
rs1401131061
|
|
NM_000061.3(BTK):c.241-3C>T
|
|
|
NM_000061.3(BTK):c.309+11T>C
|
|
|
NM_000061.3(BTK):c.310-20C>A
|
|
|
NM_000061.3(BTK):c.310-8C>T
|
|
|
NM_000061.3(BTK):c.345C>T (p.Ser115=)
|
rs782476406
|
|
NM_000061.3(BTK):c.414G>T (p.Leu138=)
|
|
|
NM_000061.3(BTK):c.520+15C>G
|
|
|
NM_000061.3(BTK):c.520+15C>T
|
rs782697907
|
|
NM_000061.3(BTK):c.521-5del
|
|
|
NM_000061.3(BTK):c.777-17C>A
|
|
|
NM_000061.3(BTK):c.895-11C>T
|
|
|
NM_000081.4(LYST):c.*1275T>C
|
|
|
NM_000081.4(LYST):c.*1499G>T
|
|
|
NM_000081.4(LYST):c.*1723A>G
|
|
|
NM_000081.4(LYST):c.*446T>C
|
|
|
NM_000081.4(LYST):c.*685G>T
|
|
|
NM_000081.4(LYST):c.*725G>A
|
|
|
NM_000081.4(LYST):c.-134G>C
|
|
|
NM_000081.4(LYST):c.10143+15dup
|
|
|
NM_000081.4(LYST):c.10374+20A>G
|
|
|
NM_000081.4(LYST):c.10565-20del
|
|
|
NM_000081.4(LYST):c.10940+20A>G
|
|
|
NM_000081.4(LYST):c.10941-8dup
|
|
|
NM_000081.4(LYST):c.11196-10del
|
|
|
NM_000081.4(LYST):c.11196-10dup
|
|
|
NM_000081.4(LYST):c.11268-17dup
|
rs36014994
|
|
NM_000081.4(LYST):c.11268-5del
|
rs36014994
|
|
NM_000081.4(LYST):c.11268-6_11268-5del
|
rs36014994
|
|
NM_000081.4(LYST):c.2363+17G>A
|
|
|
NM_000081.4(LYST):c.2364-16dup
|
|
|
NM_000081.4(LYST):c.3436C>T (p.Leu1146Phe)
|
|
|
NM_000081.4(LYST):c.3940-17dup
|
|
|
NM_000081.4(LYST):c.4007-20dup
|
|
|
NM_000081.4(LYST):c.4688+19C>A
|
|
|
NM_000081.4(LYST):c.4863-11T>G
|
|
|
NM_000081.4(LYST):c.5023+14G>A
|
|
|
NM_000081.4(LYST):c.5024-12del
|
|
|
NM_000081.4(LYST):c.5461-13_5461-12dup
|
rs557545474
|
|
NM_000081.4(LYST):c.5461-3del
|
rs557545474
|
|
NM_000081.4(LYST):c.5461-3dup
|
rs557545474
|
|
NM_000081.4(LYST):c.5923-11del
|
|
|
NM_000081.4(LYST):c.5923-11dup
|
|
|
NM_000081.4(LYST):c.5923-4dup
|
|
|
NM_000081.4(LYST):c.6122-13del
|
rs201404906
|
|
NM_000081.4(LYST):c.6122-13dup
|
|
|
NM_000081.4(LYST):c.6253+18G>A
|
|
|
NM_000081.4(LYST):c.6552G>A (p.Gln2184=)
|
|
|
NM_000081.4(LYST):c.7229+50CTTTT[7]
|
rs71174459
|
|
NM_000081.4(LYST):c.7562G>C (p.Arg2521Thr)
|
|
|
NM_000081.4(LYST):c.7973-11del
|
|
|
NM_000081.4(LYST):c.8359-19del
|
|
|
NM_000081.4(LYST):c.8359-5dup
|
|
|
NM_000081.4(LYST):c.8948-12del
|
|
|
NM_000081.4(LYST):c.9162+11G>A
|
|
|
NM_000081.4(LYST):c.9316-19del
|
|
|
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_000100.3(CSTB):c.*325A>G
|
rs28691645
|
|
NM_000108.5(DLD):c.*470G>T
|
rs111619940
|
|
NM_000108.5(DLD):c.*947G>T
|
rs7777259
|
|
NM_000108.5(DLD):c.1237-15_1237-14del
|
|
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
NM_000108.5(DLD):c.40-5del
|
|
|
NM_000108.5(DLD):c.439-7del
|
|
|
NM_000108.5(DLD):c.685-14del
|
rs759170630
|
|
NM_000146.4(FTL):c.103-14A>G
|
rs769222073
|
|
NM_000146.4(FTL):c.234C>T (p.Leu78=)
|
rs559383814
|
|
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_000156.6(GAMT):c.182-265_182-228del
|
rs1404813118
|
|
NM_000156.6(GAMT):c.328-13del
|
|
|
NM_000156.6(GAMT):c.391+47A>G
|
rs73515058
|
|
NM_000170.3(GLDC):c.*410G>C
|
rs35834773
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
NM_000170.3(GLDC):c.2203-63C>G
|
rs2274874
|
|
NM_000170.3(GLDC):c.2316-13_2316-12dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2316-6del
|
rs3215923
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2490G>T (p.Thr830=)
|
rs145407593
|
|
NM_000170.3(GLDC):c.2569+69C>A
|
rs34948145
|
|
NM_000170.3(GLDC):c.636-12del
|
|
|
NM_000284.4(PDHA1):c.*1013C>A
|
rs1042456
|
|
NM_000284.4(PDHA1):c.*110C>T
|
rs709610
|
|
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=)
|
rs764728647
|
|
NM_000284.4(PDHA1):c.*525C>G
|
rs778207227
|
|
NM_000284.4(PDHA1):c.1009-17_1009-14dup
|
rs1569193999
|
|
NM_000284.4(PDHA1):c.1009-31_1009-15del
|
|
|
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)
|
|
|
NM_000284.4(PDHA1):c.117+17T>G
|
|
|
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)
|
rs762505127
|
|
NM_000284.4(PDHA1):c.58-18A>C
|
|
|
NM_000284.4(PDHA1):c.604-14G>A
|
rs377192586
|
|
NM_000284.4(PDHA1):c.759+18GGGGCC[3]
|
|
|
NM_000284.4(PDHA1):c.759+21dup
|
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[2]
|
rs11278403
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[4]
|
rs11278403
|
|
NM_000284.4(PDHA1):c.759+34_759+45del
|
rs11278403
|
|
NM_000284.4(PDHA1):c.760-14_760-13del
|
|
|
NM_000284.4(PDHA1):c.760-14dup
|
|
|
NM_000284.4(PDHA1):c.832-14C>T
|
|
|
NM_000284.4(PDHA1):c.900-18_900-14dup
|
|
|
NM_000284.4(PDHA1):c.900-8C>G
|
|
|
NM_000286.3(PEX12):c.*880_*883del
|
rs35050283
|
|
NM_000286.3(PEX12):c.681-3_681-2del
|
rs138568975
|
|
NM_000287.4(PEX6):c.*438TAAA[1]
|
rs144286892
|
|
NM_000287.4(PEX6):c.1234-8_1234-7dup
|
rs200121485
|
|
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro)
|
rs61752141
|
|
NM_000287.4(PEX6):c.969C>T (p.Ile323=)
|
rs143001881
|
|
NM_000288.4(PEX7):c.*257_*258insAGT
|
rs1801001
|
|
NM_000288.4(PEX7):c.-65A>T
|
rs190537612
|
|
NM_000288.4(PEX7):c.-95T>C
|
rs1321471
|
|
NM_000288.4(PEX7):c.131-9del
|
rs760985736
|
|
NM_000288.4(PEX7):c.131-9dup
|
|
|
NM_000288.4(PEX7):c.527-6dup
|
|
|
NM_000288.4(PEX7):c.747+17del
|
rs2115224706
|
|
NM_000288.4(PEX7):c.747+20_747+24del
|
rs199624608
|
|
NM_000288.4(PEX7):c.748-5del
|
rs563675060
|
|
NM_000288.4(PEX7):c.748-5dup
|
rs563675060
|
|
NM_000288.4(PEX7):c.748-6_748-5dup
|
|
|
NM_000288.4(PEX7):c.904-10del
|
|
|
NM_000306.4(POU1F1):c.*138T>A
|
rs190287993
|
|
NM_000306.4(POU1F1):c.*213=
|
rs6792500
|
|
NM_000310.4(PPT1):c.537-16dup
|
rs760997725
|
|
NM_000310.4(PPT1):c.537-8del
|
rs760997725
|
|
NM_000310.4(PPT1):c.627+4A>G
|
rs572153728
|
|
NM_000310.4(PPT1):c.727-10T>G
|
rs554894547
|
|
NM_000311.5(PRNP):c.120G>A (p.Gly40=)
|
|
|
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3])
|
rs138688873
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000330.4(RS1):c.184+3240C>T
|
|
|
NM_000330.4(RS1):c.185-3110G>T
|
|
|
NM_000330.4(RS1):c.185-3147C>A
|
|
|
NM_000330.4(RS1):c.185-3260C>T
|
rs866859766
|
|
NM_000330.4(RS1):c.185-3279G>A
|
|
|
NM_000330.4(RS1):c.185-3280G>C
|
|
|
NM_000330.4(RS1):c.326+1197del
|
|
|
NM_000333.4:c.89ACG[7_17]
|
rs193922929
|
|
NM_000345.4(SNCA):c.243A>G (p.Thr81=)
|
rs568436589
|
|
NM_000368.5(TSC1):c.*1507G>A
|
rs739441
|
|
NM_000368.5(TSC1):c.*198T>C
|
rs7037703
|
|
NM_000368.5(TSC1):c.*289del
|
rs11323835
|
|
NM_000368.5(TSC1):c.*295C>G
|
rs113549339
|
|
NM_000368.5(TSC1):c.*4763T>C
|
rs79470094
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4dup
|
rs5901000
|
|
NM_000370.3(TTPA):c.*576_*578del
|
rs10543235
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
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_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.887-7_887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.887-8_887-6del
|
rs35039601
|
|
NM_000405.5(GM2A):c.*1239dup
|
rs397883774
|
|
NM_000405.5(GM2A):c.*1274dup
|
rs397716595
|
|
NM_000405.5(GM2A):c.*2717_*2720del
|
rs35384604
|
|
NM_000405.5(GM2A):c.*376del
|
rs397712620
|
|
NM_000405.5(GM2A):c.*723dup
|
rs35982513
|
|
NM_000405.5(GM2A):c.244-6del
|
|
|
NM_000405.5(GM2A):c.244-6dup
|
|
|
NM_000414.4(HSD17B4):c.*250dup
|
rs34381335
|
|
NM_000414.4(HSD17B4):c.-75C>G
|
rs26180
|
|
NM_000414.4(HSD17B4):c.1209+17dup
|
|
|
NM_000414.4(HSD17B4):c.1210-17del
|
rs781059702
|
|
NM_000414.4(HSD17B4):c.1334-4del
|
rs2126813978
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000414.4(HSD17B4):c.1503+16dup
|
|
|
NM_000414.4(HSD17B4):c.1503+22del
|
|
|
NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr)
|
|
|
NM_000414.4(HSD17B4):c.1767+18del
|
|
|
NM_000414.4(HSD17B4):c.302+23del
|
|
|
NM_000414.4(HSD17B4):c.739+20dup
|
|
|
NM_000414.4(HSD17B4):c.972+15del
|
rs763801604
|
|
NM_000447.3(PSEN2):c.142-29T>C
|
rs1295644
|
|
NM_000447.3(PSEN2):c.498+30G>C
|
rs2236910
|
|
NM_000447.3(PSEN2):c.887-24T>C
|
rs2802267
|
|
NM_000454.5(SOD1):c.169+52_169+58del
|
rs541000032
|
|
NM_000466.3(PEX1):c.1077G>A (p.Lys359=)
|
rs138905930
|
|
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)
|
rs73404416
|
|
NM_000466.3(PEX1):c.1239+15del
|
|
|
NM_000466.3(PEX1):c.1240-10del
|
rs1298492061
|
|
NM_000466.3(PEX1):c.1434T>G (p.Leu478=)
|
rs757668497
|
|
NM_000466.3(PEX1):c.1671-5dup
|
rs1792230930
|
|
NM_000466.3(PEX1):c.1804-12A>T
|
rs143041528
|
|
NM_000466.3(PEX1):c.2417-17dup
|
|
|
NM_000466.3(PEX1):c.2417-7del
|
|
|
NM_000466.3(PEX1):c.2583+15dup
|
rs761003048
|
|
NM_000466.3(PEX1):c.2584-10T>C
|
rs375129444
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-21_2584-20dup
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-21dup
|
rs5885806
|
|
NM_000466.3(PEX1):c.2927-14_2927-13del
|
rs765202366
|
|
NM_000466.3(PEX1):c.2927-19dup
|
|
|
NM_000466.3(PEX1):c.3637-8del
|
rs775743560
|
|
NM_000466.3(PEX1):c.3637-8dup
|
rs775743560
|
|
NM_000466.3(PEX1):c.3768-4dup
|
rs1459472276
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
|
|
|
NM_000475.5(NR0B1):c.1168+10C>G
|
|
|
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
|
|
|
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
|
|
|
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
|
|
|
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
|
|
|
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
|
|
|
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
|
|
|
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
|
|
|
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
|
|
|
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
|
|
|
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
|
|
|
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
|
|
|
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
|
|
|
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
|
|
|
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
|
|
|
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
|
|
|
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
|
|
|
NM_000481.4(AMT):c.471+10del
|
|
|
NM_000481.4(AMT):c.471+10dup
|
|
|
NM_000481.4(AMT):c.471+12_471+13del
|
rs370772505
|
|
NM_000481.4(AMT):c.513C>T (p.Gly171=)
|
rs555045517
|
|
NM_000484.4(APP):c.1224+16C>A
|
rs199585064
|
|
NM_000484.4(APP):c.1458+18C>T
|
rs200083249
|
|
NM_000484.4(APP):c.1770C>T (p.Asn590=)
|
|
|
NM_000484.4(APP):c.1848C>T (p.Asp616=)
|
|
|
NM_000484.4(APP):c.2148C>A (p.Ile716=)
|
rs145564988
|
|
NM_000484.4(APP):c.581A>G (p.Asp194Gly)
|
|
|
NM_000484.4(APP):c.865+11A>G
|
|
|
NM_000487.6(ARSA):c.*1351C>G
|
rs131717
|
|
NM_000487.6(ARSA):c.*777C>G
|
rs115593886
|
|
NM_000487.6(ARSA):c.1210+13C>A
|
rs6151426
|
|
NM_000487.6(ARSA):c.1210+13del
|
rs2146717560
|
|
NM_000487.6(ARSA):c.1211-8del
|
rs1342017537
|
|
NM_000487.6(ARSA):c.224+12del
|
rs775260029
|
|
NM_000487.6(ARSA):c.495G>A (p.Pro165=)
|
rs145299072
|
|
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp)
|
rs556812341
|
|
NM_000487.6(ARSA):c.598G>A (p.Glu200Lys)
|
rs776156197
|
|
NM_000487.6(ARSA):c.937C>A (p.Arg313=)
|
rs551472773
|
|
NM_000489.6(ATRX):c.1017A>G (p.Val339=)
|
|
|
NM_000489.6(ATRX):c.105T>A (p.Pro35=)
|
|
|
NM_000489.6(ATRX):c.1078A>G (p.Ile360Val)
|
|
|
NM_000489.6(ATRX):c.1101C>T (p.Asn367=)
|
|
|
NM_000489.6(ATRX):c.1164A>G (p.Lys388=)
|
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
NM_000489.6(ATRX):c.1230A>G (p.Glu410=)
|
|
|
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu)
|
rs898727479
|
|
NM_000489.6(ATRX):c.1311T>G (p.Ala437=)
|
|
|
NM_000489.6(ATRX):c.1384G>C (p.Ala462Pro)
|
rs201503118
|
|
NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)
|
|
|
NM_000489.6(ATRX):c.1566C>G (p.Ser522=)
|
|
|
NM_000489.6(ATRX):c.1627G>C (p.Asp543His)
|
|
|
NM_000489.6(ATRX):c.180C>T (p.Ser60=)
|
rs2072319089
|
|
NM_000489.6(ATRX):c.1856G>A (p.Gly619Asp)
|
|
|
NM_000489.6(ATRX):c.20+12C>T
|
|
|
NM_000489.6(ATRX):c.2023T>G (p.Ser675Ala)
|
|
|
NM_000489.6(ATRX):c.2268A>G (p.Glu756=)
|
|
|
NM_000489.6(ATRX):c.2429C>A (p.Thr810Asn)
|
rs2148598084
|
|
NM_000489.6(ATRX):c.2493T>G (p.Ile831Met)
|
|
|
NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
|
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
|
|
|
NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
|
|
|
NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
|
|
|
NM_000489.6(ATRX):c.2970A>G (p.Glu990=)
|
rs782253066
|
|
NM_000489.6(ATRX):c.3040G>A (p.Asp1014Asn)
|
|
|
NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
|
|
|
NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
|
|
|
NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
|
|
|
NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)
|
|
|
NM_000489.6(ATRX):c.3408A>G (p.Glu1136=)
|
|
|
NM_000489.6(ATRX):c.351T>C (p.Thr117=)
|
|
|
NM_000489.6(ATRX):c.3612T>A (p.Ser1204=)
|
|
|
NM_000489.6(ATRX):c.3624AGA[1] (p.Glu1209del)
|
|
|
NM_000489.6(ATRX):c.3682C>T (p.Pro1228Ser)
|
|
|
NM_000489.6(ATRX):c.3737-9dup
|
|
|
NM_000489.6(ATRX):c.3810-20del
|
|
|
NM_000489.6(ATRX):c.3810-20dup
|
|
|
NM_000489.6(ATRX):c.3983C>A (p.Ser1328Tyr)
|
rs930261155
|
|
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)
|
rs1569536694
|
|
NM_000489.6(ATRX):c.4027C>T (p.His1343Tyr)
|
|
|
NM_000489.6(ATRX):c.4076A>G (p.Lys1359Arg)
|
|
|
NM_000489.6(ATRX):c.4097T>A (p.Val1366Asp)
|
|
|
NM_000489.6(ATRX):c.4105A>G (p.Arg1369Gly)
|
|
|
NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)
|
|
|
NM_000489.6(ATRX):c.4214+19A>T
|
|
|
NM_000489.6(ATRX):c.4293A>G (p.Gln1431=)
|
|
|
NM_000489.6(ATRX):c.4329G>T (p.Glu1443Asp)
|
|
|
NM_000489.6(ATRX):c.4372G>A (p.Glu1458Lys)
|
|
|
NM_000489.6(ATRX):c.4558-8del
|
|
|
NM_000489.6(ATRX):c.4956+12del
|
|
|
NM_000489.6(ATRX):c.5379C>T (p.Thr1793=)
|
|
|
NM_000489.6(ATRX):c.5472A>C (p.Thr1824=)
|
|
|
NM_000489.6(ATRX):c.5566+5A>C
|
rs782212670
|
|
NM_000489.6(ATRX):c.5698-19G>A
|
|
|
NM_000489.6(ATRX):c.5698-7del
|
rs781820607
|
|
NM_000489.6(ATRX):c.5698-7dup
|
rs781820607
|
|
NM_000489.6(ATRX):c.5786+19C>T
|
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
NM_000489.6(ATRX):c.5787-24GTTT[6]
|
rs782072699
|
|
NM_000489.6(ATRX):c.5957-15A>G
|
|
|
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)
|
rs782391479
|
|
NM_000489.6(ATRX):c.6026C>G (p.Ala2009Gly)
|
rs1557082359
|
|
NM_000489.6(ATRX):c.6110+12A>G
|
|
|
NM_000489.6(ATRX):c.6111-9dup
|
rs1557079294
|
|
NM_000489.6(ATRX):c.6504+17C>A
|
|
|
NM_000489.6(ATRX):c.654A>G (p.Glu218=)
|
rs782378258
|
|
NM_000489.6(ATRX):c.6555G>T (p.Leu2185=)
|
rs781823496
|
|
NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu)
|
|
|
NM_000489.6(ATRX):c.6850-9dup
|
|
|
NM_000489.6(ATRX):c.6896C>T (p.Pro2299Leu)
|
|
|
NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)
|
|
|
NM_000489.6(ATRX):c.7071+16A>G
|
|
|
NM_000489.6(ATRX):c.711T>C (p.Asn237=)
|
rs782710787
|
|
NM_000489.6(ATRX):c.7335C>A (p.Ile2445=)
|
|
|
NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)
|
|
|
NM_000489.6(ATRX):c.7350C>G (p.Asn2450Lys)
|
rs2147648778
|
|
NM_000489.6(ATRX):c.7432C>T (p.Pro2478Ser)
|
rs199543136
|
|
NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)
|
|
|
NM_000515.5(GH1):c.-4T>G
|
rs6173
|
|
NM_000515.5(GH1):c.7A>G (p.Thr3Ala)
|
rs2001345
|
|
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_000533.5(PLP1):c.101G>T (p.Gly34Val)
|
|
|
NM_000533.5(PLP1):c.191+19A>T
|
|
|
NM_000533.5(PLP1):c.198T>C (p.His66=)
|
|
|
NM_000533.5(PLP1):c.453+43del
|
|
|
NM_000533.5(PLP1):c.460G>A (p.Gly154Ser)
|
|
|
NM_000533.5(PLP1):c.5-14T>C
|
|
|
NM_000533.5(PLP1):c.5-15C>G
|
|
|
NM_000533.5(PLP1):c.5-9C>G
|
|
|
NM_000533.5(PLP1):c.586A>G (p.Ser196Gly)
|
|
|
NM_000533.5(PLP1):c.615A>G (p.Arg205=)
|
|
|
NM_000533.5(PLP1):c.623-13G>T
|
|
|
NM_000533.5(PLP1):c.63C>T (p.Ala21=)
|
|
|
NM_000533.5(PLP1):c.798C>T (p.Ala266=)
|
|
|
NM_000702.4(ATP1A2):c.*1000T>A
|
rs116194737
|
|
NM_000702.4(ATP1A2):c.*1211C>A
|
rs62621216
|
|
NM_000702.4(ATP1A2):c.*1496del
|
rs138196662
|
|
NM_000702.4(ATP1A2):c.1104G>A (p.Thr368=)
|
rs138766432
|
|
NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=)
|
rs547954866
|
|
NM_000702.4(ATP1A2):c.1217-15dup
|
|
|
NM_000702.4(ATP1A2):c.13-11_13-8del
|
rs373796693
|
|
NM_000702.4(ATP1A2):c.13-19C>T
|
|
|
NM_000702.4(ATP1A2):c.1326+8del
|
rs763762298
|
|
NM_000702.4(ATP1A2):c.1651+49C>T
|
rs57074721
|
|
NM_000702.4(ATP1A2):c.1652-6del
|
|
|
NM_000702.4(ATP1A2):c.1652-7C>A
|
rs200102433
|
|
NM_000702.4(ATP1A2):c.1652-7C>G
|
rs200102433
|
|
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=)
|
rs537472446
|
|
NM_000702.4(ATP1A2):c.2564-8A>G
|
rs554846350
|
|
NM_000702.4(ATP1A2):c.2841-20dup
|
rs397775888
|
|
NM_000702.4(ATP1A2):c.3034+23dup
|
|
|
NM_000702.4(ATP1A2):c.3034+61G>A
|
rs55884181
|
|
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=)
|
rs553035942
|
|
NM_000702.4(ATP1A2):c.631-16A>G
|
rs571618030
|
|
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=)
|
rs564452950
|
|
NM_000702.4(ATP1A2):c.748+21dup
|
|
|
NM_000702.4(ATP1A2):c.749-13del
|
|
|
NM_000726.5(CACNB4):c.*2188del
|
rs75297236
|
|
NM_000726.5(CACNB4):c.*624del
|
rs11291336
|
|
NM_000726.5(CACNB4):c.222A>T (p.Arg74=)
|
rs553682728
|
|
NM_000742.4(CHRNA2):c.*1024_*1026del
|
rs151214233
|
|
NM_000742.4(CHRNA2):c.*1667G>A
|
rs577078556
|
|
NM_000742.4(CHRNA2):c.-448G>A
|
rs78426134
|
|
NM_000742.4(CHRNA2):c.295-16_295-7dup
|
rs776047724
|
|
NM_000742.4(CHRNA2):c.339+12_339+13del
|
rs139680977
|
|
NM_000742.4(CHRNA2):c.339+13dup
|
rs139680977
|
|
NM_000742.4(CHRNA2):c.340-16C>A
|
|
|
NM_000742.4(CHRNA2):c.450-87C>G
|
rs3735757
|
|
NM_000744.7(CHRNA4):c.1158C>G (p.Pro386=)
|
rs45564639
|
|
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)
|
rs2229959
|
|
NM_000744.7(CHRNA4):c.1740C>T (p.Ala580=)
|
|
|
NM_000744.7(CHRNA4):c.383+15_383+32del
|
|
|
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)
|
rs45588436
|
|
NM_000748.3(CHRNB2):c.1434C>A (p.Phe478Leu)
|
|
|
NM_000748.3(CHRNB2):c.255+7G>C
|
rs190374968
|
|
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_000811.3(GABRA6):c.1005C>G (p.Ala335=)
|
rs13184586
|
|
NM_000811.3(GABRA6):c.1344C>G (p.Val448=)
|
rs4277944
|
|
NM_000812.4(GABRB1):c.80+24_80+25del
|
rs72416056
|
|
NM_000812.4(GABRB1):c.846A>G (p.Thr282=)
|
rs6289
|
|
NM_000817.3(GAD1):c.265C>T (p.Arg89Trp)
|
rs150841255
|
|
NM_000817.3(GAD1):c.638+18dup
|
|
|
NM_000834.5(GRIN2B):c.1103A>C (p.Asn368Thr)
|
rs1314805334
|
|
NM_000834.5(GRIN2B):c.1146G>C (p.Lys382Asn)
|
|
|
NM_000834.5(GRIN2B):c.1147T>A (p.Ser383Thr)
|
rs199671864
|
|
NM_000834.5(GRIN2B):c.1288A>C (p.Met430Leu)
|
|
|
NM_000834.5(GRIN2B):c.1479C>G (p.Thr493=)
|
rs202139349
|
|
NM_000834.5(GRIN2B):c.1655-12dup
|
rs768388356
|
|
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=)
|
rs1805522
|
|
NM_000834.5(GRIN2B):c.188C>T (p.Ser63Phe)
|
rs1865821627
|
|
NM_000834.5(GRIN2B):c.189C>A (p.Ser63=)
|
rs199707487
|
|
NM_000834.5(GRIN2B):c.2172-10del
|
rs761900678
|
|
NM_000834.5(GRIN2B):c.2172-15dup
|
rs761900678
|
|
NM_000834.5(GRIN2B):c.2202A>G (p.Ala734=)
|
rs148185805
|
|
NM_000834.5(GRIN2B):c.2552T>C (p.Met851Thr)
|
|
|
NM_000834.5(GRIN2B):c.2665G>A (p.Ala889Thr)
|
rs756224637
|
|
NM_000834.5(GRIN2B):c.2717A>G (p.Lys906Arg)
|
|
|
NM_000834.5(GRIN2B):c.2745T>A (p.Asn915Lys)
|
|
|
NM_000834.5(GRIN2B):c.274C>A (p.Arg92=)
|
rs1436757161
|
|
NM_000834.5(GRIN2B):c.278A>G (p.Lys93Arg)
|
rs1865819544
|
|
NM_000834.5(GRIN2B):c.2810A>G (p.His937Arg)
|
rs1168893427
|
|
NM_000834.5(GRIN2B):c.2960A>G (p.His987Arg)
|
rs765183831
|
|
NM_000834.5(GRIN2B):c.2975A>G (p.His992Arg)
|
rs1555102461
|
|
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
|
|
|
NM_000834.5(GRIN2B):c.3082C>T (p.Pro1028Ser)
|
|
|
NM_000834.5(GRIN2B):c.3127T>G (p.Ser1043Ala)
|
rs1251332746
|
|
NM_000834.5(GRIN2B):c.3160G>A (p.Asp1054Asn)
|
|
|
NM_000834.5(GRIN2B):c.3340C>T (p.Pro1114Ser)
|
rs2136404905
|
|
NM_000834.5(GRIN2B):c.3344G>A (p.Arg1115His)
|
rs199514711
|
|
NM_000834.5(GRIN2B):c.3389G>T (p.Arg1130Leu)
|
rs148625092
|
|
NM_000834.5(GRIN2B):c.3413G>T (p.Arg1138Leu)
|
rs187979330
|
|
NM_000834.5(GRIN2B):c.3473G>T (p.Arg1158Leu)
|
rs143955920
|
|
NM_000834.5(GRIN2B):c.3497C>G (p.Ser1166Cys)
|
|
|
NM_000834.5(GRIN2B):c.3543C>A (p.His1181Gln)
|
rs866476716
|
|
NM_000834.5(GRIN2B):c.3550G>A (p.Gly1184Ser)
|
|
|
NM_000834.5(GRIN2B):c.362C>T (p.Thr121Ile)
|
|
|
NM_000834.5(GRIN2B):c.3641T>C (p.Phe1214Ser)
|
|
|
NM_000834.5(GRIN2B):c.3673T>A (p.Tyr1225Asn)
|
rs1591605873
|
|
NM_000834.5(GRIN2B):c.3703G>A (p.Gly1235Ser)
|
rs886049099
|
|
NM_000834.5(GRIN2B):c.3722G>A (p.Arg1241Gln)
|
rs2136403871
|
|
NM_000834.5(GRIN2B):c.3886A>C (p.Asn1296His)
|
rs1555101871
|
|
NM_000834.5(GRIN2B):c.38G>T (p.Trp13Leu)
|
rs765133670
|
|
NM_000834.5(GRIN2B):c.3943G>A (p.Ala1315Thr)
|
|
|
NM_000834.5(GRIN2B):c.3950T>C (p.Leu1317Pro)
|
rs2136403363
|
|
NM_000834.5(GRIN2B):c.3964G>T (p.Val1322Leu)
|
|
|
NM_000834.5(GRIN2B):c.3991A>C (p.Met1331Leu)
|
rs1338505023
|
|
NM_000834.5(GRIN2B):c.4021G>C (p.Glu1341Gln)
|
|
|
NM_000834.5(GRIN2B):c.4031C>T (p.Ala1344Val)
|
rs759438353
|
|
NM_000834.5(GRIN2B):c.4075G>T (p.Ala1359Ser)
|
rs2136403015
|
|
NM_000834.5(GRIN2B):c.4102G>T (p.Gly1368Cys)
|
|
|
NM_000834.5(GRIN2B):c.4114A>G (p.Met1372Val)
|
|
|
NM_000834.5(GRIN2B):c.4162A>G (p.Ile1388Val)
|
|
|
NM_000834.5(GRIN2B):c.4229C>G (p.Thr1410Arg)
|
rs779830552
|
|
NM_000834.5(GRIN2B):c.4289T>C (p.Val1430Ala)
|
|
|
NM_000834.5(GRIN2B):c.4300C>T (p.Leu1434Phe)
|
rs1002108827
|
|
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala)
|
rs1565452616
|
|
NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met)
|
rs763699668
|
|
NM_000834.5(GRIN2B):c.4337T>A (p.Ile1446Asn)
|
|
|
NM_000834.5(GRIN2B):c.465C>A (p.Ser155=)
|
rs115189840
|
|
NM_000834.5(GRIN2B):c.511A>G (p.Ile171Val)
|
|
|
NM_000834.5(GRIN2B):c.627G>A (p.Leu209=)
|
|
|
NM_000834.5(GRIN2B):c.76G>A (p.Ala26Thr)
|
rs79962661
|
|
NM_000834.5(GRIN2B):c.80G>T (p.Arg27Leu)
|
rs200727145
|
|
NM_000834.5(GRIN2B):c.856G>C (p.Asp286His)
|
|
|
NM_000834.5(GRIN2B):c.868C>T (p.Pro290Ser)
|
rs1863522709
|
|
NM_000834.5(GRIN2B):c.92G>C (p.Ser31Thr)
|
rs746004289
|
|
NM_000834.5(GRIN2B):c.94C>A (p.Pro32Thr)
|
|
|
NM_000834.5(GRIN2B):c.959G>C (p.Ser320Thr)
|
rs931791422
|
|
NM_000834.5(GRIN2B):c.992A>G (p.Gln331Arg)
|
rs1555132930
|
|
NM_000925.4(PDHB):c.*92C>A
|
rs4228
|
|
NM_000925.4(PDHB):c.700+9del
|
|
|
NM_000944.5(PPP3CA):c.58+74_58+75delinsCG
|
|
|
NM_001001344.3(ATP2B3):c.3160-57A>G
|
rs4243536
|
|
NM_001001344.3(ATP2B3):c.665-116A>G
|
rs2980012
|
|
NM_001003800.2(BICD2):c.1290C>T (p.Asn430=)
|
|
|
NM_001003800.2(BICD2):c.1530C>T (p.Ser510=)
|
|
|
NM_001003800.2(BICD2):c.1536C>T (p.Val512=)
|
|
|
NM_001003800.2(BICD2):c.1739G>A (p.Arg580Gln)
|
rs775229197
|
|
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885
|
|
NM_001003800.2(BICD2):c.2058G>A (p.Lys686=)
|
|
|
NM_001003800.2(BICD2):c.2106+14C>T
|
|
|
NM_001003800.2(BICD2):c.2258+17C>T
|
rs554612134
|
|
NM_001003800.2(BICD2):c.2258+18G>A
|
rs376177099
|
|
NM_001003800.2(BICD2):c.2313T>A (p.Ala771=)
|
|
|
NM_001003800.2(BICD2):c.2497G>A (p.Asp833Asn)
|
|
|
NM_001003800.2(BICD2):c.453+9G>T
|
rs202189685
|
|
NM_001005207.3(TRIM37):c.-449dupC
|
rs35129177
|
|
NM_001005920.4(JMJD8):c.*506del
|
rs3216838
|
|
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])
|
rs60216939
|
|
NM_001008212.2(OPTN):c.1402-11del
|
|
|
NM_001008212.2(OPTN):c.1402-7C>T
|
|
|
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
|
rs113955718
|
|
NM_001008212.2(OPTN):c.964= (p.Glu322=)
|
|
|
NM_001010867.4(IBA57):c.680-15del
|
|
|
NM_001010881.2(C1orf167):c.3567+757dup
|
rs55740775
|
|
NM_001015877.2(PHF6):c.138+10C>T
|
rs778255925
|
|
NM_001015877.2(PHF6):c.139-11_139-7del
|
rs781657256
|
|
NM_001015877.2(PHF6):c.241-17T>C
|
|
|
NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)
|
|
|
NM_001015877.2(PHF6):c.374+16_374+20del
|
|
|
NM_001015877.2(PHF6):c.399A>G (p.Lys133=)
|
rs780193840
|
|
NM_001015877.2(PHF6):c.407A>G (p.His136Arg)
|
|
|
NM_001015877.2(PHF6):c.537C>G (p.Thr179=)
|
|
|
NM_001015877.2(PHF6):c.585+14dup
|
|
|
NM_001015877.2(PHF6):c.586-18T>C
|
|
|
NM_001015877.2(PHF6):c.648T>C (p.His216=)
|
|
|
NM_001020658.2(PUM1):c.364G>A (p.Val122Met)
|
rs1643312973
|
|
NM_001024845.3(SLC6A9):c.1435+19G>A
|
rs199700395
|
|
NM_001024845.3(SLC6A9):c.1436-11dup
|
|
|
NM_001024845.3(SLC6A9):c.1536+11_1536+30del
|
rs549038505
|
|
NM_001024845.3(SLC6A9):c.1875C>T (p.Ser625=)
|
|
|
NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser)
|
rs61741712
|
|
NM_001029896.2(WDR45):c.131-9C>T
|
|
|
NM_001029896.2(WDR45):c.283C>G (p.Leu95Val)
|
|
|
NM_001029896.2(WDR45):c.345C>T (p.Ile115=)
|
|
|
NM_001029896.2(WDR45):c.437-19C>G
|
|
|
NM_001029896.2(WDR45):c.564C>T (p.Ile188=)
|
rs782454636
|
|
NM_001029896.2(WDR45):c.703A>G (p.Thr235Ala)
|
|
|
NM_001029896.2(WDR45):c.827+12del
|
rs782023833
|
|
NM_001029896.2(WDR45):c.974-10C>A
|
rs781891625
|
|
NM_001029896.2(WDR45):c.974-14C>A
|
|
|
NM_001029896.2(WDR45):c.974-14C>G
|
|
|
NM_001029896.2(WDR45):c.974-15dup
|
rs782179321
|
|
NM_001029896.2(WDR45):c.974-9del
|
rs782179321
|
|
NM_001032221.6(STXBP1):c.1029+7C>T
|
rs2131497503
|
|
NM_001032221.6(STXBP1):c.1111-20A>G
|
|
|
NM_001032221.6(STXBP1):c.1202C>T (p.Thr401Ile)
|
rs756159322
|
|
NM_001032221.6(STXBP1):c.1461+4A>G
|
|
|
NM_001032221.6(STXBP1):c.1548-7_1548-4del
|
rs796053349
|
|
NM_001032221.6(STXBP1):c.243G>A (p.Glu81=)
|
|
|
NM_001032221.6(STXBP1):c.247-9del
|
rs776049050
|
|
NM_001032221.6(STXBP1):c.247-9dup
|
rs776049050
|
|
NM_001032221.6(STXBP1):c.25G>A (p.Val9Ile)
|
rs1262952349
|
|
NM_001032221.6(STXBP1):c.302C>T (p.Ala101Val)
|
rs776064372
|
|
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met)
|
rs2131455010
|
|
NM_001032221.6(STXBP1):c.464G>A (p.Ser155Asn)
|
rs1841134073
|
|
NM_001032221.6(STXBP1):c.478C>A (p.His160Asn)
|
rs1841134699
|
|
NM_001032221.6(STXBP1):c.502A>G (p.Ile168Val)
|
|
|
NM_001032221.6(STXBP1):c.681C>G (p.Arg227=)
|
rs553892771
|
|
NM_001032221.6(STXBP1):c.794+23del
|
rs112440418
|
|
NM_001032221.6(STXBP1):c.902+19C>A
|
rs767072467
|
|
NM_001032221.6(STXBP1):c.942G>T (p.Lys314Asn)
|
|
|
NM_001037333.3(CYFIP2):c.283dup (p.Gln95fs)
|
rs5872508
|
|
NM_001040142.2(SCN2A):c.2150-8del
|
rs746100466
|
|
NM_001040142.2(SCN2A):c.2385C>T (p.Asn795=)
|
|
|
NM_001040142.2(SCN2A):c.3520+10del
|
rs955426239
|
|
NM_001040142.2(SCN2A):c.3840G>C (p.Leu1280=)
|
|
|
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=)
|
rs200553623
|
|
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=)
|
rs565309819
|
|
NM_001040142.2(SCN2A):c.519A>G (p.Lys173=)
|
rs200941759
|
|
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr)
|
rs527452801
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.270T>C (p.Phe90=)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.375-5del
|
|
|
NM_001042432.2(CLN3):c.375-5dup
|
|
|
NM_001042432.2(CLN3):c.461-3del
|
rs766754807
|
|
NM_001042432.2(CLN3):c.461-3dup
|
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042646.3(TRAK1):c.*42CTC[1]
|
rs3836498
|
|
NM_001042646.3(TRAK1):c.1963+101GGA[12]
|
rs10634555
|
|
NM_001044.5(SLC6A3):c.1031+71G>T
|
rs40358
|
|
NM_001044.5(SLC6A3):c.1269+17G>A
|
rs374618829
|
|
NM_001044.5(SLC6A3):c.1399-11del
|
|
|
NM_001044.5(SLC6A3):c.419-3595A>T
|
|
|
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_001077350.3(NPRL3):c.1268C>A (p.Pro423Gln)
|
rs200792895
|
|
NM_001077350.3(NPRL3):c.1278C>G (p.Asp426Glu)
|
rs74712570
|
|
NM_001077350.3(NPRL3):c.1466_1467= (p.Ser489=)
|
|
|
NM_001077350.3(NPRL3):c.1468dup (p.Leu490fs)
|
rs57321480
|
|
NM_001077350.3(NPRL3):c.768-10T>G
|
rs566886246
|
|
NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)
|
|
|
NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)
|
|
|
NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=)
|
|
|
NM_001079872.2(CUL4B):c.1257-9del
|
rs746854249
|
|
NM_001079872.2(CUL4B):c.1257-9dup
|
rs746854249
|
|
NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=)
|
|
|
NM_001079872.2(CUL4B):c.1636+11C>T
|
|
|
NM_001079872.2(CUL4B):c.1853-19G>A
|
|
|
NM_001079872.2(CUL4B):c.1939-19T>C
|
|
|
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)
|
|
|
NM_001079872.2(CUL4B):c.2046+6A>C
|
|
|
NM_001079872.2(CUL4B):c.2161-15T>C
|
rs183114462
|
|
NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)
|
|
|
NM_001079872.2(CUL4B):c.519T>G (p.Pro173=)
|
|
|
NM_001079872.2(CUL4B):c.776+7dup
|
rs200461872
|
|
NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)
|
|
|
NM_001079872.2(CUL4B):c.847-10del
|
rs762094686
|
|
NM_001080397.3(SLC45A1):c.1335G>A (p.Pro445=)
|
|
|
NM_001080397.3(SLC45A1):c.1507G>T (p.Ala503Ser)
|
rs7535752
|
|
NM_001080414.4(CCDC88C):c.61-85T>C
|
rs1285844
|
|
NM_001081550.2(THOC2):c.769-20dup
|
rs201356571
|
|
NM_001085411.3(NADK2):c.561-18dup
|
|
|
NM_001085411.3(NADK2):c.860+8del
|
rs1453153303
|
|
NM_001085411.3(NADK2):c.957-9del
|
rs1392296362
|
|
NM_001097577.3(ANG):c.62C>A (p.Pro21Gln)
|
rs773237991
|
|
NM_001098.3(ACO2):c.174-52G>T
|
rs2076199
|
|
NM_001099403.2(PRDM8):c.1778_1795del (p.Ala593_Ala598del)
|
rs755316101
|
|
NM_001099403.2(PRDM8):c.972C>T (p.Gly324=)
|
rs528863020
|
|
NM_001099922.3(ALG13):c.1186A>C (p.Arg396=)
|
|
|
NM_001099922.3(ALG13):c.1250+8del
|
rs2148114059
|
|
NM_001099922.3(ALG13):c.1601+11G>A
|
rs770867470
|
|
NM_001099922.3(ALG13):c.1818G>A (p.Lys606=)
|
|
|
NM_001099922.3(ALG13):c.2145T>C (p.Tyr715=)
|
|
|
NM_001099922.3(ALG13):c.2248-14TC[2]
|
rs746217514
|
|
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)
|
rs772766102
|
|
NM_001099922.3(ALG13):c.2457+15_2457+17del
|
rs761459857
|
|
NM_001099922.3(ALG13):c.2457+16T>C
|
|
|
NM_001099922.3(ALG13):c.2457+17A>C
|
|
|
NM_001099922.3(ALG13):c.2754ACC[13] (p.Pro944_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2798_2799insACCTCC (p.Pro944_Pro945dup)
|
rs1569522034
|
|
NM_001099922.3(ALG13):c.2860A>G (p.Asn954Asp)
|
|
|
NM_001099922.3(ALG13):c.288C>G (p.Leu96=)
|
|
|
NM_001099922.3(ALG13):c.2987G>A (p.Ser996Asn)
|
|
|
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys)
|
rs372990620
|
|
NM_001099922.3(ALG13):c.3343A>G (p.Ile1115Val)
|
|
|
NM_001099922.3(ALG13):c.383+8A>G
|
|
|
NM_001099922.3(ALG13):c.751-8_751-6del
|
rs765948340
|
|
NM_001099922.3(ALG13):c.801A>G (p.Ser267=)
|
|
|
NM_001099922.3(ALG13):c.82-10C>T
|
|
|
NM_001099922.3(ALG13):c.834+14A>G
|
|
|
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser)
|
rs753556936
|
|
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)
|
rs371622656
|
|
NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)
|
|
|
NM_001110556.2(FLNA):c.1039G>A (p.Val347Ile)
|
rs782234539
|
|
NM_001110556.2(FLNA):c.1093A>G (p.Ile365Val)
|
|
|
NM_001110556.2(FLNA):c.1095C>T (p.Ile365=)
|
rs373366243
|
|
NM_001110556.2(FLNA):c.1243G>A (p.Glu415Lys)
|
|
|
NM_001110556.2(FLNA):c.1315G>A (p.Asp439Asn)
|
|
|
NM_001110556.2(FLNA):c.1366G>T (p.Val456Leu)
|
rs782495199
|
|
NM_001110556.2(FLNA):c.1400G>A (p.Arg467His)
|
|
|
NM_001110556.2(FLNA):c.1430-16del
|
rs782361173
|
|
NM_001110556.2(FLNA):c.1456G>A (p.Val486Ile)
|
rs1557179006
|
|
NM_001110556.2(FLNA):c.1482T>C (p.Gly494=)
|
|
|
NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val)
|
|
|
NM_001110556.2(FLNA):c.1623G>T (p.Glu541Asp)
|
|
|
NM_001110556.2(FLNA):c.1664C>T (p.Thr555Met)
|
rs782611953
|
|
NM_001110556.2(FLNA):c.1691+11dup
|
|
|
NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg)
|
|
|
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly)
|
rs111516546
|
|
NM_001110556.2(FLNA):c.1900C>T (p.Arg634Cys)
|
|
|
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp)
|
rs941318584
|
|
NM_001110556.2(FLNA):c.2281-13del
|
|
|
NM_001110556.2(FLNA):c.2291G>C (p.Gly764Ala)
|
|
|
NM_001110556.2(FLNA):c.2358C>T (p.Ala786=)
|
|
|
NM_001110556.2(FLNA):c.2405-8_2405-5dup
|
rs782040815
|
|
NM_001110556.2(FLNA):c.2515A>G (p.Thr839Ala)
|
|
|
NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr)
|
|
|
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys)
|
rs782292045
|
|
NM_001110556.2(FLNA):c.2629G>A (p.Ala877Thr)
|
|
|
NM_001110556.2(FLNA):c.2650C>A (p.Arg884Ser)
|
|
|
NM_001110556.2(FLNA):c.2665C>T (p.Leu889Phe)
|
|
|
NM_001110556.2(FLNA):c.2826+7A>G
|
rs782545599
|
|
NM_001110556.2(FLNA):c.2910C>G (p.Asp970Glu)
|
|
|
NM_001110556.2(FLNA):c.2952C>G (p.Asp984Glu)
|
rs782513930
|
|
NM_001110556.2(FLNA):c.3144C>T (p.Asp1048=)
|
|
|
NM_001110556.2(FLNA):c.3253C>T (p.Pro1085Ser)
|
|
|
NM_001110556.2(FLNA):c.3387C>G (p.Thr1129=)
|
rs372874251
|
|
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
|
rs372874251
|
|
NM_001110556.2(FLNA):c.3388G>A (p.Glu1130Lys)
|
|
|
NM_001110556.2(FLNA):c.33C>T (p.Ser11=)
|
|
|
NM_001110556.2(FLNA):c.3406A>T (p.Ile1136Phe)
|
|
|
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=)
|
rs183899917
|
|
NM_001110556.2(FLNA):c.3491A>G (p.Lys1164Arg)
|
|
|
NM_001110556.2(FLNA):c.3514C>T (p.Arg1172Trp)
|
|
|
NM_001110556.2(FLNA):c.3537C>A (p.Gly1179=)
|
|
|
NM_001110556.2(FLNA):c.3561C>T (p.Ser1187=)
|
rs1396701849
|
|
NM_001110556.2(FLNA):c.374-17C>T
|
|
|
NM_001110556.2(FLNA):c.3805+15C>T
|
rs144968452
|
|
NM_001110556.2(FLNA):c.3881A>C (p.Lys1294Thr)
|
|
|
NM_001110556.2(FLNA):c.3979+8_3979+11del
|
rs781854538
|
|
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln)
|
rs782490288
|
|
NM_001110556.2(FLNA):c.4083C>T (p.His1361=)
|
|
|
NM_001110556.2(FLNA):c.4332T>C (p.Asp1444=)
|
|
|
NM_001110556.2(FLNA):c.4391G>A (p.Arg1464His)
|
|
|
NM_001110556.2(FLNA):c.4428C>T (p.Ser1476=)
|
|
|
NM_001110556.2(FLNA):c.4441G>A (p.Ala1481Thr)
|
|
|
NM_001110556.2(FLNA):c.4462C>G (p.Gln1488Glu)
|
|
|
NM_001110556.2(FLNA):c.4488A>G (p.Pro1496=)
|
|
|
NM_001110556.2(FLNA):c.4669A>G (p.Thr1557Ala)
|
rs782484503
|
|
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)
|
rs201904661
|
|
NM_001110556.2(FLNA):c.4746C>T (p.Val1582=)
|
|
|
NM_001110556.2(FLNA):c.4785C>T (p.His1595=)
|
|
|
NM_001110556.2(FLNA):c.4808C>T (p.Thr1603Met)
|
|
|
NM_001110556.2(FLNA):c.495G>A (p.Lys165=)
|
|
|
NM_001110556.2(FLNA):c.5100G>A (p.Val1700=)
|
|
|
NM_001110556.2(FLNA):c.5217+13G>A
|
rs370737630
|
|
NM_001110556.2(FLNA):c.5217+18del
|
|
|
NM_001110556.2(FLNA):c.5258G>A (p.Arg1753Gln)
|
|
|
NM_001110556.2(FLNA):c.5472A>C (p.Lys1824Asn)
|
|
|
NM_001110556.2(FLNA):c.5592C>T (p.Asn1864=)
|
rs782315233
|
|
NM_001110556.2(FLNA):c.58G>T (p.Gly20Cys)
|
|
|
NM_001110556.2(FLNA):c.5907C>T (p.Ala1969=)
|
rs375906241
|
|
NM_001110556.2(FLNA):c.6034G>A (p.Val2012Met)
|
|
|
NM_001110556.2(FLNA):c.6144T>A (p.Ser2048Arg)
|
|
|
NM_001110556.2(FLNA):c.6153G>A (p.Arg2051=)
|
|
|
NM_001110556.2(FLNA):c.6174C>T (p.His2058=)
|
|
|
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup)
|
rs782721874
|
|
NM_001110556.2(FLNA):c.6302C>G (p.Thr2101Arg)
|
|
|
NM_001110556.2(FLNA):c.6306C>T (p.Cys2102=)
|
|
|
NM_001110556.2(FLNA):c.6372C>T (p.His2124=)
|
|
|
NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys)
|
rs782142395
|
|
NM_001110556.2(FLNA):c.6442C>T (p.Arg2148Cys)
|
|
|
NM_001110556.2(FLNA):c.6502+7G>A
|
rs782202978
|
|
NM_001110556.2(FLNA):c.6546G>A (p.Ser2182=)
|
|
|
NM_001110556.2(FLNA):c.6564C>T (p.Ala2188=)
|
|
|
NM_001110556.2(FLNA):c.6571G>A (p.Val2191Met)
|
|
|
NM_001110556.2(FLNA):c.6687C>T (p.Thr2229=)
|
|
|
NM_001110556.2(FLNA):c.6708G>A (p.Gly2236=)
|
|
|
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)
|
rs782591917
|
|
NM_001110556.2(FLNA):c.7131G>A (p.Glu2377=)
|
|
|
NM_001110556.2(FLNA):c.7256G>A (p.Arg2419Gln)
|
|
|
NM_001110556.2(FLNA):c.7323C>T (p.Gly2441=)
|
|
|
NM_001110556.2(FLNA):c.7333+18G>A
|
|
|
NM_001110556.2(FLNA):c.7365C>T (p.Ser2455=)
|
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala)
|
|
|
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=)
|
rs782308141
|
|
NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala)
|
|
|
NM_001110556.2(FLNA):c.7756+11=
|
rs7063300
|
|
NM_001110556.2(FLNA):c.7756+20G>T
|
rs782395246
|
|
NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)
|
|
|
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr)
|
rs781993962
|
|
NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)
|
|
|
NM_001110556.2(FLNA):c.902G>A (p.Arg301Gln)
|
|
|
NM_001110792.2(MECP2):c.*156G>T
|
|
|
NM_001110792.2(MECP2):c.*2706G>A
|
rs267608357
|
|
NM_001110792.2(MECP2):c.*529G>T
|
rs267608362
|
|
NM_001110792.2(MECP2):c.*5478AT[6]
|
rs202139104
|
|
NM_001110792.2(MECP2):c.*8503del
|
rs267608360
|
|
NM_001110792.2(MECP2):c.*8503dup
|
rs267608360
|
|
NM_001110792.2(MECP2):c.-31AG[2]
|
rs587783128
|
|
NM_001110792.2(MECP2):c.1002C>T (p.Pro334=)
|
|
|
NM_001110792.2(MECP2):c.1020C>G (p.Leu340=)
|
|
|
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg)
|
rs267608557
|
|
NM_001110792.2(MECP2):c.1037A>G (p.Lys346Arg)
|
|
|
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)
|
|
|
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His)
|
rs61748387
|
|
NM_001110792.2(MECP2):c.1102A>G (p.Ser368Gly)
|
rs2148661316
|
|
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del)
|
rs61752381
|
|
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln)
|
rs2148660984
|
|
NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln)
|
rs2148660959
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del)
|
rs782174572
|
|
NM_001110792.2(MECP2):c.1194G>A (p.Leu398=)
|
|
|
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del)
|
rs267608332
|
|
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala)
|
rs61753000
|
|
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del)
|
rs61753008
|
|
NM_001110792.2(MECP2):c.1240C>T (p.Pro414Ser)
|
rs150146088
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del)
|
rs2065909462
|
|
NM_001110792.2(MECP2):c.1269_1270delinsTT (p.Val424Phe)
|
rs2065909328
|
|
NM_001110792.2(MECP2):c.1277A>G (p.Lys426Arg)
|
rs2148659263
|
|
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr)
|
rs1210814372
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.139A>G (p.Lys47Glu)
|
|
|
NM_001110792.2(MECP2):c.1414G>C (p.Asp472His)
|
|
|
NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr)
|
rs2065902151
|
|
NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp)
|
rs2148658484
|
|
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp)
|
rs75498268
|
|
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr)
|
rs267608328
|
|
NM_001110792.2(MECP2):c.191A>G (p.His64Arg)
|
rs61754433
|
|
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.413+15C>G
|
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001110792.2(MECP2):c.414-18_414-15del
|
rs782156136
|
|
NM_001110792.2(MECP2):c.414-5C>T
|
|
|
NM_001110792.2(MECP2):c.414-65C>G
|
|
|
NM_001110792.2(MECP2):c.550C>G (p.Pro184Ala)
|
|
|
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)
|
rs61754420
|
|
NM_001110792.2(MECP2):c.564C>T (p.Pro188=)
|
rs61754420
|
|
NM_001110792.2(MECP2):c.619G>A (p.Gly207Ser)
|
rs782806083
|
|
NM_001110792.2(MECP2):c.62+5503del
|
rs372915987
|
|
NM_001110792.2(MECP2):c.632C>A (p.Pro211His)
|
rs267608502
|
|
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)
|
rs587783138
|
|
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val)
|
rs782473355
|
|
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)
|
rs61749737
|
|
NM_001110792.2(MECP2):c.727G>C (p.Gly243Arg)
|
|
|
NM_001110792.2(MECP2):c.786C>A (p.Arg262=)
|
rs61748424
|
|
NM_001110792.2(MECP2):c.786C>T (p.Arg262=)
|
rs61748424
|
|
NM_001110792.2(MECP2):c.806C>G (p.Ala269Gly)
|
rs2148662683
|
|
NM_001110792.2(MECP2):c.872C>G (p.Ala291Gly)
|
rs61750249
|
|
NM_001110792.2(MECP2):c.939C>G (p.Leu313=)
|
|
|
NM_001111.5(ADAR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_001111.5(ADAR):c.2361G>A (p.Ala787=)
|
|
|
NM_001111.5(ADAR):c.2496+35C>G
|
rs7532276
|
|
NM_001111.5(ADAR):c.3019+19dup
|
|
|
NM_001111125.3(IQSEC2):c.1402-10C>A
|
rs183644900
|
|
NM_001111125.3(IQSEC2):c.1402-10C>G
|
rs183644900
|
|
NM_001111125.3(IQSEC2):c.1402-11C>A
|
rs187186062
|
|
NM_001111125.3(IQSEC2):c.1402-11C>G
|
rs187186062
|
|
NM_001111125.3(IQSEC2):c.1402-15dup
|
rs781861463
|
|
NM_001111125.3(IQSEC2):c.1402-9del
|
rs781861463
|
|
NM_001111125.3(IQSEC2):c.1454G>A (p.Gly485Glu)
|
|
|
NM_001111125.3(IQSEC2):c.1611C>G (p.Pro537=)
|
|
|
NM_001111125.3(IQSEC2):c.1658C>A (p.Pro553Gln)
|
rs782165719
|
|
NM_001111125.3(IQSEC2):c.1696G>A (p.Gly566Ser)
|
|
|
NM_001111125.3(IQSEC2):c.1728C>T (p.Pro576=)
|
|
|
NM_001111125.3(IQSEC2):c.1764T>C (p.Ala588=)
|
|
|
NM_001111125.3(IQSEC2):c.1848C>T (p.His616=)
|
|
|
NM_001111125.3(IQSEC2):c.1869T>G (p.Ala623=)
|
|
|
NM_001111125.3(IQSEC2):c.2265G>T (p.Arg755=)
|
|
|
NM_001111125.3(IQSEC2):c.226C>T (p.Pro76Ser)
|
|
|
NM_001111125.3(IQSEC2):c.2562G>A (p.Glu854=)
|
|
|
NM_001111125.3(IQSEC2):c.2571C>T (p.Ile857=)
|
|
|
NM_001111125.3(IQSEC2):c.2582+19_2582+29delinsGTGTGCTGGACCCTTCAGTGACTGTGACTAAGCTCTTTCTAGGTGCCTGGTCTTCTGCCAGGTG
|
rs2147085327
|
|
NM_001111125.3(IQSEC2):c.2582+4T>G
|
|
|
NM_001111125.3(IQSEC2):c.2583-14dup
|
|
|
NM_001111125.3(IQSEC2):c.2684T>C (p.Met895Thr)
|
rs2147080510
|
|
NM_001111125.3(IQSEC2):c.2832C>T (p.Asn944=)
|
rs782519675
|
|
NM_001111125.3(IQSEC2):c.303G>A (p.Glu101=)
|
|
|
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=)
|
rs782748833
|
|
NM_001111125.3(IQSEC2):c.3193A>G (p.Ser1065Gly)
|
rs367700660
|
|
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser)
|
rs782569979
|
|
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met)
|
rs782558010
|
|
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His)
|
rs868984872
|
|
NM_001111125.3(IQSEC2):c.3414C>T (p.Gly1138=)
|
|
|
NM_001111125.3(IQSEC2):c.3552C>G (p.Pro1184=)
|
rs1556859344
|
|
NM_001111125.3(IQSEC2):c.3591C>G (p.Pro1197=)
|
|
|
NM_001111125.3(IQSEC2):c.3662C>A (p.Pro1221Gln)
|
|
|
NM_001111125.3(IQSEC2):c.3717CCA[8] (p.His1247dup)
|
rs782189881
|
|
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=)
|
rs782399288
|
|
NM_001111125.3(IQSEC2):c.3864C>G (p.Pro1288=)
|
|
|
NM_001111125.3(IQSEC2):c.4081C>T (p.Leu1361=)
|
|
|
NM_001111125.3(IQSEC2):c.4205C>T (p.Ala1402Val)
|
|
|
NM_001111125.3(IQSEC2):c.4226G>A (p.Arg1409Gln)
|
|
|
NM_001111125.3(IQSEC2):c.619C>A (p.Arg207Ser)
|
rs1295281780
|
|
NM_001111125.3(IQSEC2):c.643C>T (p.Pro215Ser)
|
rs1037744173
|
|
NM_001111125.3(IQSEC2):c.708-18dup
|
rs782120447
|
|
NM_001111125.3(IQSEC2):c.708-19_708-18del
|
|
|
NM_001111125.3(IQSEC2):c.74A>G (p.Glu25Gly)
|
rs2075427734
|
|
NM_001111125.3(IQSEC2):c.756A>G (p.Pro252=)
|
|
|
NM_001111125.3(IQSEC2):c.999+12G>A
|
|
|
NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser)
|
rs1344272743
|
|
NM_001112741.2(KCNC1):c.1293C>G (p.Pro431=)
|
rs577711585
|
|
NM_001112741.2(KCNC1):c.744C>T (p.Ile248=)
|
rs2229007
|
|
NM_001122752.2(SERPINI1):c.482-10dup
|
rs772199277
|
|
NM_001122752.2(SERPINI1):c.676+14dup
|
|
|
NM_001122955.4(BSCL2):c.88-613G>A
|
rs112877243
|
|
NM_001122955.4(BSCL2):c.88-663G>A
|
rs117862461
|
|
NM_001127178.3(PIGG):c.154+11dup
|
rs782776784
|
|
NM_001127178.3(PIGG):c.1614+9G>A
|
rs188737876
|
|
NM_001127178.3(PIGG):c.1614+9G>C
|
rs188737876
|
|
NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr)
|
rs34120878
|
|
NM_001127178.3(PIGG):c.2069+9G>T
|
rs149305291
|
|
NM_001127178.3(PIGG):c.759+13G>A
|
rs201035016
|
|
NM_001127222.2(CACNA1A):c.1668+7G>A
|
rs567507041
|
|
NM_001127222.2(CACNA1A):c.2202C>A (p.Asn734Lys)
|
rs2057768031
|
|
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)
|
rs16021
|
|
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=)
|
|
|
NM_001127222.2(CACNA1A):c.2759C>T (p.Ala920Val)
|
|
|
NM_001127222.2(CACNA1A):c.2892C>G (p.Pro964=)
|
|
|
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile)
|
rs768567834
|
|
NM_001127222.2(CACNA1A):c.3319C>T (p.Leu1107=)
|
|
|
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=)
|
rs529584159
|
|
NM_001127222.2(CACNA1A):c.3693-19G>A
|
|
|
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=)
|
rs557721660
|
|
NM_001127222.2(CACNA1A):c.3989+13G>T
|
rs373480312
|
|
NM_001127222.2(CACNA1A):c.3990-9C>T
|
|
|
NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=)
|
|
|
NM_001127222.2(CACNA1A):c.4950+15A>C
|
rs755685706
|
|
NM_001127222.2(CACNA1A):c.5625+50CTT[4]
|
rs143245670
|
|
NM_001127222.2(CACNA1A):c.5840-15TG[5]
|
rs772598066
|
|
NM_001127222.2(CACNA1A):c.5940+14C>A
|
rs374115419
|
|
NM_001127222.2(CACNA1A):c.6050+14del
|
rs755362952
|
|
NM_001127222.2(CACNA1A):c.6189+74A>C
|
rs16048
|
|
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=)
|
rs200093958
|
|
NM_001127222.2(CACNA1A):c.6303+94del
|
rs3217380
|
|
NM_001127222.2(CACNA1A):c.632-3dup
|
rs2059191701
|
|
NM_001127222.2(CACNA1A):c.6526+124G>C
|
rs2304093
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)
|
rs2304094
|
|
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)
|
rs16054
|
|
NM_001127644.2(GABRA1):c.1079C>T (p.Pro360Leu)
|
rs80337021
|
|
NM_001127644.2(GABRA1):c.1099A>T (p.Thr367Ser)
|
rs2113469507
|
|
NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu)
|
rs1755409878
|
|
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn)
|
rs796052487
|
|
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser)
|
rs139793542
|
|
NM_001127644.2(GABRA1):c.235C>A (p.Pro79Thr)
|
rs2113354212
|
|
NM_001127644.2(GABRA1):c.28T>C (p.Cys10Arg)
|
rs1217531305
|
|
NM_001127644.2(GABRA1):c.322A>G (p.Met108Val)
|
rs2113381084
|
|
NM_001127644.2(GABRA1):c.725C>T (p.Thr242Ile)
|
rs759786297
|
|
NM_001127644.2(GABRA1):c.74+16del
|
|
|
NM_001127644.2(GABRA1):c.74+9A>T
|
rs41275339
|
|
NM_001127644.2(GABRA1):c.75-4dup
|
rs563768487
|
|
NM_001127644.2(GABRA1):c.857-9del
|
rs3214859
|
|
NM_001127644.2(GABRA1):c.857-9dup
|
rs3214859
|
|
NM_001127649.3(PEX26):c.*1283C>T
|
rs73876563
|
|
NM_001127649.3(PEX26):c.*1532_*1535dup
|
rs361782
|
|
NM_001127649.3(PEX26):c.*1661_*1662insACTC
|
rs361571
|
|
NM_001127649.3(PEX26):c.*1859A>C
|
rs146739242
|
|
NM_001127649.3(PEX26):c.*829A>G
|
rs362057
|
|
NM_001127649.3(PEX26):c.*944C>A
|
rs78412274
|
|
NM_001127649.3(PEX26):c.372-12dup
|
rs1489019658
|
|
NM_001127649.3(PEX26):c.814+22del
|
|
|
NM_001128126.3(AP4S1):c.138+63G>C
|
rs6571386
|
|
NM_001128126.3(AP4S1):c.139-65C>G
|
rs7155228
|
|
NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup)
|
rs193922926
|
|
NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup)
|
rs751421308
|
|
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)
|
rs144962740
|
|
NM_001130438.3(SPTAN1):c.1086-17_1086-14del
|
rs768027782
|
|
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=)
|
rs137947812
|
|
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr)
|
rs377387388
|
|
NM_001130438.3(SPTAN1):c.1769A>G (p.Asn590Ser)
|
rs1034518674
|
|
NM_001130438.3(SPTAN1):c.1957A>T (p.Met653Leu)
|
rs191761343
|
|
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=)
|
rs759833805
|
|
NM_001130438.3(SPTAN1):c.3095G>A (p.Arg1032Gln)
|
rs765075763
|
|
NM_001130438.3(SPTAN1):c.3156-4G>A
|
rs549061995
|
|
NM_001130438.3(SPTAN1):c.3215+15_3215+16del
|
rs551595039
|
|
NM_001130438.3(SPTAN1):c.3220C>A (p.His1074Asn)
|
rs1349491364
|
|
NM_001130438.3(SPTAN1):c.3283A>C (p.Met1095Leu)
|
rs2131360708
|
|
NM_001130438.3(SPTAN1):c.3323A>G (p.Asn1108Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3536T>C (p.Met1179Thr)
|
rs564155435
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130438.3(SPTAN1):c.4046+5G>A
|
rs541570752
|
|
NM_001130438.3(SPTAN1):c.4046+6G>A
|
rs1589298035
|
|
NM_001130438.3(SPTAN1):c.4047-14G>T
|
rs558154123
|
|
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=)
|
rs570247500
|
|
NM_001130438.3(SPTAN1):c.5044-10del
|
|
|
NM_001130438.3(SPTAN1):c.5083C>T (p.Leu1695=)
|
|
|
NM_001130438.3(SPTAN1):c.5149-3dup
|
rs2131743536
|
|
NM_001130438.3(SPTAN1):c.5423G>A (p.Arg1808Lys)
|
rs2131791086
|
|
NM_001130438.3(SPTAN1):c.6427T>G (p.Ser2143Ala)
|
rs1356195027
|
|
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)
|
rs72758823
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
NM_001130438.3(SPTAN1):c.6577-13del
|
|
|
NM_001130438.3(SPTAN1):c.6577-13dup
|
rs761170802
|
|
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr)
|
rs1858943245
|
|
NM_001130438.3(SPTAN1):c.6763-11del
|
rs1242521066
|
|
NM_001130438.3(SPTAN1):c.6763-6C>A
|
rs543227930
|
|
NM_001130438.3(SPTAN1):c.6763-6del
|
|
|
NM_001130438.3(SPTAN1):c.7014-13C>T
|
|
|
NM_001130438.3(SPTAN1):c.7014-16C>A
|
|
|
NM_001130438.3(SPTAN1):c.7160+10_7160+13del
|
rs554161838
|
|
NM_001130438.3(SPTAN1):c.7160+6T>C
|
rs1218914219
|
|
NM_001130438.3(SPTAN1):c.7161-9C>G
|
rs187613754
|
|
NM_001130438.3(SPTAN1):c.7309-12_7309-11del
|
rs770948927
|
|
NM_001130438.3(SPTAN1):c.785+20T>C
|
rs529962403
|
|
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro)
|
rs796053298
|
|
NM_001130438.3(SPTAN1):c.930+9dup
|
|
|
NM_001130823.3(DNMT1):c.1009-8C>G
|
rs766626750
|
|
NM_001130823.3(DNMT1):c.1044-8del
|
rs59599980
|
|
NM_001130823.3(DNMT1):c.1044-9_1044-8del
|
rs59599980
|
|
NM_001130823.3(DNMT1):c.1905C>G (p.Thr635=)
|
|
|
NM_001130823.3(DNMT1):c.2381+18del
|
|
|
NM_001130823.3(DNMT1):c.2382-16C>G
|
rs199909957
|
|
NM_001130823.3(DNMT1):c.2697G>A (p.Gln899=)
|
rs530293931
|
|
NM_001130823.3(DNMT1):c.2720+13del
|
|
|
NM_001130823.3(DNMT1):c.3948+4G>A
|
rs774356396
|
|
NM_001130823.3(DNMT1):c.429C>T (p.Ser143=)
|
|
|
NM_001130823.3(DNMT1):c.432T>C (p.Asp144=)
|
|
|
NM_001130823.3(DNMT1):c.4656+13G>T
|
|
|
NM_001130823.3(DNMT1):c.4773+10dup
|
|
|
NM_001130823.3(DNMT1):c.497A>G (p.Glu166Gly)
|
|
|
NM_001130823.3(DNMT1):c.769-14dup
|
|
|
NM_001130823.3(DNMT1):c.80+18dup
|
rs760739305
|
|
NM_001130823.3(DNMT1):c.81-6T>C
|
|
|
NM_001134232.2(TMEM106B):c.442-44_442-43insGTTT
|
rs3839691
|
|
NM_001134407.3(GRIN2A):c.*1002C>T
|
rs144997779
|
|
NM_001134407.3(GRIN2A):c.*3753C>G
|
rs78426284
|
|
NM_001134407.3(GRIN2A):c.*4304T>C
|
rs79079877
|
|
NM_001134407.3(GRIN2A):c.*5365G>A
|
rs554155423
|
|
NM_001134407.3(GRIN2A):c.*6384G>T
|
rs13339551
|
|
NM_001134407.3(GRIN2A):c.*7112A>T
|
rs143274147
|
|
NM_001134407.3(GRIN2A):c.*7324G>A
|
rs16966244
|
|
NM_001134407.3(GRIN2A):c.*7324G>C
|
rs16966244
|
|
NM_001134407.3(GRIN2A):c.*8714T>C
|
rs571467101
|
|
NM_001134407.3(GRIN2A):c.*9325G>C
|
rs117836220
|
|
NM_001134407.3(GRIN2A):c.*983T>C
|
rs545042349
|
|
NM_001134407.3(GRIN2A):c.1251C>A (p.Val417=)
|
rs139329447
|
|
NM_001134407.3(GRIN2A):c.1802T>C (p.Ile601Thr)
|
rs1404462639
|
|
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=)
|
rs527686036
|
|
NM_001134407.3(GRIN2A):c.2356+20del
|
rs1567305177
|
|
NM_001134407.3(GRIN2A):c.2627T>A (p.Ile876Asn)
|
rs199784503
|
|
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=)
|
rs569998469
|
|
NM_001134407.3(GRIN2A):c.2771T>C (p.Phe924Ser)
|
rs1177789326
|
|
NM_001134407.3(GRIN2A):c.2889C>G (p.Leu963=)
|
|
|
NM_001134407.3(GRIN2A):c.2894C>T (p.Thr965Ile)
|
rs886042323
|
|
NM_001134407.3(GRIN2A):c.294C>G (p.Leu98=)
|
|
|
NM_001134407.3(GRIN2A):c.3223G>A (p.Asp1075Asn)
|
|
|
NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=)
|
rs143039009
|
|
NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro)
|
rs534440095
|
|
NM_001134407.3(GRIN2A):c.3591T>A (p.Gly1197=)
|
rs532278751
|
|
NM_001134407.3(GRIN2A):c.3594C>A (p.Ser1198=)
|
|
|
NM_001134407.3(GRIN2A):c.3976G>A (p.Gly1326Ser)
|
|
|
NM_001134407.3(GRIN2A):c.415-10del
|
rs2044774386
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
NM_001134407.3(GRIN2A):c.566C>A (p.Thr189Asn)
|
rs1377082706
|
|
NM_001134831.2(AHI1):c.*28G>C
|
rs9494209
|
|
NM_001134831.2(AHI1):c.2037-77G>A
|
rs737561
|
|
NM_001136035.4(TRMT1):c.1106+26G>C
|
rs35601737
|
|
NM_001139517.1(PRKRA):c.27_28ins57 (p.?)
|
|
|
NM_001145.4(ANG):c.-237A>C
|
rs45525731
|
|
NM_001145358.2(SIN3A):c.3592-20T>A
|
rs4886696
|
|
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)
|
rs2307890
|
|
NM_001160148.2(DDHD1):c.*2CT[2]
|
rs3037072
|
|
NM_001160148.2(DDHD1):c.1397-5del
|
rs752225098
|
|
NM_001160148.2(DDHD1):c.1758T>A (p.Thr586=)
|
rs4898778
|
|
NM_001160148.2(DDHD1):c.1758T>C (p.Thr586=)
|
rs4898778
|
|
NM_001160148.2(DDHD1):c.1993-19dup
|
rs755741246
|
|
NM_001160148.2(DDHD1):c.1993-9del
|
rs755741246
|
|
NM_001160148.2(DDHD1):c.2668G>A (p.Asp890Asn)
|
rs202164262
|
|
NM_001160148.2(DDHD1):c.325GGC[6] (p.Gly111_Gly112dup)
|
rs55671452
|
|
NM_001160148.2(DDHD1):c.325GGC[8] (p.Gly109_Gly112dup)
|
rs55671452
|
|
NM_001160148.2(DDHD1):c.339_340insGGCGGC (p.Ser113_Ser114insGlyGly)
|
|
|
NM_001160372.4(TRAPPC9):c.731-31_731-11del
|
rs11267571
|
|
NM_001161352.2(KCNMA1):c.1131+11del
|
rs545073914
|
|
NM_001161352.2(KCNMA1):c.1131+11dup
|
rs545073914
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
NM_001161352.2(KCNMA1):c.2710-19del
|
rs112408409
|
|
NM_001161352.2(KCNMA1):c.2710-19dup
|
rs112408409
|
|
NM_001161352.2(KCNMA1):c.412G>A (p.Ala138Thr)
|
|
|
NM_001161352.2(KCNMA1):c.603-19dup
|
rs2154127967
|
|
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=)
|
rs1045794
|
|
NM_001165963.4(SCN1A):c.1171-10_1171-9del
|
rs372840031
|
|
NM_001165963.4(SCN1A):c.1501A>C (p.Arg501=)
|
|
|
NM_001165963.4(SCN1A):c.1509A>G (p.Lys503=)
|
|
|
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=)
|
rs587781144
|
|
NM_001165963.4(SCN1A):c.1554T>G (p.Asp518Glu)
|
|
|
NM_001165963.4(SCN1A):c.2044-5del
|
rs549232924
|
|
NM_001165963.4(SCN1A):c.2044-5dup
|
rs549232924
|
|
NM_001165963.4(SCN1A):c.2044-6_2044-5dup
|
|
|
NM_001165963.4(SCN1A):c.2177-11dup
|
rs11394960
|
|
NM_001165963.4(SCN1A):c.264+13dup
|
|
|
NM_001165963.4(SCN1A):c.2947-4del
|
|
|
NM_001165963.4(SCN1A):c.3524T>C (p.Leu1175Pro)
|
|
|
NM_001165963.4(SCN1A):c.3705+10del
|
rs570862962
|
|
NM_001165963.4(SCN1A):c.3706-12dup
|
rs1692588027
|
|
NM_001165963.4(SCN1A):c.3880-11del
|
|
|
NM_001165963.4(SCN1A):c.4002+2650del
|
|
|
NM_001165963.4(SCN1A):c.4284+18del
|
|
|
NM_001165963.4(SCN1A):c.4390G>C (p.Val1464Leu)
|
|
|
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=)
|
rs374087499
|
|
NM_001165963.4(SCN1A):c.474-17del
|
|
|
NM_001165963.4(SCN1A):c.5739A>G (p.Lys1913=)
|
rs554861427
|
|
NM_001165963.4(SCN1A):c.602+6_602+7dup
|
rs577627288
|
|
NM_001166114.2(PNPLA6):c.1253-14del
|
rs1318985494
|
|
NM_001166114.2(PNPLA6):c.2415C>T (p.Leu805=)
|
rs535490318
|
|
NM_001166114.2(PNPLA6):c.2466-13del
|
|
|
NM_001166114.2(PNPLA6):c.2466-13dup
|
rs2146101488
|
|
NM_001166114.2(PNPLA6):c.2634+38G>C
|
rs599328
|
|
NM_001166114.2(PNPLA6):c.2817+21del
|
|
|
NM_001166114.2(PNPLA6):c.3094-11dup
|
rs2146107854
|
|
NM_001166114.2(PNPLA6):c.3398-12del
|
rs780867273
|
|
NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=)
|
rs577065342
|
|
NM_001166114.2(PNPLA6):c.3913+23del
|
rs11307097
|
|
NM_001166114.2(PNPLA6):c.3913+23dup
|
rs11307097
|
|
NM_001166114.2(PNPLA6):c.925-12C>T
|
rs370904772
|
|
NM_001172509.2(SATB2):c.1174-16del
|
rs555268633
|
|
NM_001172509.2(SATB2):c.1174-16dup
|
|
|
NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)
|
|
|
NM_001172509.2(SATB2):c.1331A>G (p.Asn444Ser)
|
|
|
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe)
|
rs1323623166
|
|
NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)
|
|
|
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser)
|
rs1043250716
|
|
NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val)
|
rs1559161533
|
|
NM_001172509.2(SATB2):c.1453G>C (p.Ala485Pro)
|
|
|
NM_001172509.2(SATB2):c.1459A>G (p.Ile487Val)
|
|
|
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
|
|
|
NM_001172509.2(SATB2):c.15C>A (p.Ser5Arg)
|
|
|
NM_001172509.2(SATB2):c.1711G>A (p.Val571Met)
|
rs188013011
|
|
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
|
|
|
NM_001172509.2(SATB2):c.1741G>C (p.Val581Leu)
|
rs1692196446
|
|
NM_001172509.2(SATB2):c.1771A>C (p.Lys591Gln)
|
rs2105707537
|
|
NM_001172509.2(SATB2):c.1817C>T (p.Pro606Leu)
|
|
|
NM_001172509.2(SATB2):c.1844C>T (p.Pro615Leu)
|
rs1692191333
|
|
NM_001172509.2(SATB2):c.1970A>G (p.His657Arg)
|
rs2105707013
|
|
NM_001172509.2(SATB2):c.2031A>C (p.Lys677Asn)
|
|
|
NM_001172509.2(SATB2):c.2105A>G (p.Asp702Gly)
|
|
|
NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val)
|
rs2105706426
|
|
NM_001172509.2(SATB2):c.233G>A (p.Arg78Lys)
|
rs767582582
|
|
NM_001172509.2(SATB2):c.275T>C (p.Leu92Pro)
|
|
|
NM_001172509.2(SATB2):c.346+16_346+17delinsAA
|
|
|
NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)
|
|
|
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)
|
rs1574568704
|
|
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile)
|
rs764205432
|
|
NM_001172509.2(SATB2):c.598-13dup
|
rs199978702
|
|
NM_001172509.2(SATB2):c.701-12A>C
|
rs116585116
|
|
NM_001172509.2(SATB2):c.724C>T (p.Leu242Phe)
|
|
|
NM_001172509.2(SATB2):c.732C>G (p.Asp244Glu)
|
rs766855879
|
|
NM_001172509.2(SATB2):c.74G>C (p.Gly25Ala)
|
|
|
NM_001172509.2(SATB2):c.752G>A (p.Arg251His)
|
rs2105823583
|
|
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser)
|
rs375141410
|
|
NM_001172509.2(SATB2):c.844A>G (p.Ile282Val)
|
rs1688735770
|
|
NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
|
|
|
NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)
|
|
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
|
NM_001173990.3(TMEM216):c.-24C>G
|
rs59493015
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001173990.3:c.432-11_432-10insA
|
|
|
NM_001182.5(ALDH7A1):c.*1702del
|
rs5871218
|
|
NM_001182.5(ALDH7A1):c.*2997dup
|
rs5871217
|
|
NM_001182.5(ALDH7A1):c.*3022T>C
|
rs2035471
|
|
NM_001182.5(ALDH7A1):c.*818G>A
|
rs1138005
|
|
NM_001182.5(ALDH7A1):c.1009-8del
|
|
|
NM_001182.5(ALDH7A1):c.1009-8dup
|
|
|
NM_001182.5(ALDH7A1):c.1317+20G>A
|
rs17597559
|
|
NM_001182.5(ALDH7A1):c.1415+19del
|
|
|
NM_001182.5(ALDH7A1):c.246+7GT[16]
|
rs142510783
|
|
NM_001182.5(ALDH7A1):c.313-15G>A
|
rs201720741
|
|
NM_001182.5(ALDH7A1):c.872-9dup
|
|
|
NM_001182.5(ALDH7A1):c.914-118dup
|
rs759132307
|
|
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe)
|
rs374593325
|
|
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
|
|
|
NM_001190274.2(FBXO11):c.2083+20dup
|
rs77079615
|
|
NM_001191061.2(SLC25A22):c.20+18dup
|
rs796053236
|
|
NM_001191061.2(SLC25A22):c.203-11del
|
|
|
NM_001191061.2(SLC25A22):c.742+19G>A
|
rs373084007
|
|
NM_001195248.2(APTX):c.484-12T>G
|
rs1981011
|
|
NM_001195248.2(APTX):c.484-25_484-4del
|
rs778542759
|
|
NM_001195248.2(APTX):c.484-25_484-5del
|
rs200922655
|
|
NM_001195248.2(APTX):c.484-25_484-6del
|
rs771925873
|
|
NM_001195248.2(APTX):c.771-12dup
|
rs34600530
|
|
NM_001199107.2(TBC1D24):c.*2598G>C
|
rs13336179
|
|
NM_001199107.2(TBC1D24):c.*2625dup
|
rs35944492
|
|
NM_001199107.2(TBC1D24):c.*36G>T
|
rs73490289
|
|
NM_001199107.2(TBC1D24):c.*4067C>T
|
rs74003014
|
|
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[2]
|
rs777798547
|
|
NM_001199753.2(CPT1C):c.1220C>T (p.Ala407Val)
|
|
|
NM_001199753.2(CPT1C):c.1541G>T (p.Arg514Leu)
|
rs150853576
|
|
NM_001199753.2(CPT1C):c.1893C>T (p.Arg631=)
|
|
|
NM_001199753.2(CPT1C):c.2133+15dup
|
rs56405217
|
|
NM_001205293.3(CACNA1E):c.1053C>A (p.Ser351=)
|
rs201080304
|
|
NM_001205293.3(CACNA1E):c.1053C>T (p.Ser351=)
|
rs201080304
|
|
NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=)
|
rs35265801
|
|
NM_001205293.3(CACNA1E):c.1638+10C>A
|
rs371576889
|
|
NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1])
|
rs763708603
|
|
NM_001205293.3(CACNA1E):c.2776G>A (p.Val926Ile)
|
rs370910420
|
|
NM_001205293.3(CACNA1E):c.4882-6_4882-4del
|
rs560116244
|
|
NM_001205293.3(CACNA1E):c.5140-12del
|
rs752600141
|
|
NM_001205293.3(CACNA1E):c.5470+11_5470+15del
|
rs3830692
|
|
NM_001205293.3(CACNA1E):c.5820A>C (p.Pro1940=)
|
rs35611740
|
|
NM_001220.5(CAMK2B):c.*2+103dup
|
rs149624128
|
|
NM_001220.5(CAMK2B):c.1791G>A (p.Pro597=)
|
rs1127065
|
|
NM_001220.5(CAMK2B):c.582T>C (p.Pro194=)
|
rs11542228
|
|
NM_001242896.3(DEPDC5):c.1082-3dup
|
rs766994249
|
|
NM_001242896.3(DEPDC5):c.1218-13_1218-10del
|
rs150103661
|
|
NM_001242896.3(DEPDC5):c.1218-5del
|
rs758572377
|
|
NM_001242896.3(DEPDC5):c.1324+25dup
|
|
|
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu)
|
rs61731667
|
|
NM_001242896.3(DEPDC5):c.2516-8dup
|
|
|
NM_001242896.3(DEPDC5):c.2634-5del
|
rs1602354182
|
|
NM_001242896.3(DEPDC5):c.3213C>T (p.Ala1071=)
|
rs373166302
|
|
NM_001242896.3(DEPDC5):c.363+19del
|
rs529780938
|
|
NM_001242896.3(DEPDC5):c.363+19dup
|
rs529780938
|
|
NM_001242896.3(DEPDC5):c.4437-15C>G
|
rs755374231
|
|
NM_001242896.3(DEPDC5):c.483+15del
|
|
|
NM_001242896.3(DEPDC5):c.562+8_562+9del
|
rs754265066
|
|
NM_001242896.3(DEPDC5):c.946+17G>A
|
|
|
NM_001244008.2(KIF1A):c.*1685G>C
|
rs3732340
|
|
NM_001244008.2(KIF1A):c.*1743G>A
|
rs3732338
|
|
NM_001244008.2(KIF1A):c.1421+9C>T
|
rs372601809
|
|
NM_001244008.2(KIF1A):c.1506C>T (p.His502=)
|
|
|
NM_001244008.2(KIF1A):c.1950-7del
|
rs2125904899
|
|
NM_001244008.2(KIF1A):c.2022+17del
|
|
|
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)
|
rs141052770
|
|
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=)
|
rs73102625
|
|
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=)
|
rs73102625
|
|
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)
|
rs373045276
|
|
NM_001244008.2(KIF1A):c.3327G>A (p.Gln1109=)
|
rs752843807
|
|
NM_001244008.2(KIF1A):c.363+15del
|
|
|
NM_001244008.2(KIF1A):c.363+16C>G
|
rs7594569
|
|
NM_001244008.2(KIF1A):c.363+20C>G
|
rs199804274
|
|
NM_001244008.2(KIF1A):c.364-11del
|
|
|
NM_001244008.2(KIF1A):c.364-11dup
|
|
|
NM_001244008.2(KIF1A):c.3915C>T (p.Asn1305=)
|
|
|
NM_001244008.2(KIF1A):c.4447C>T (p.Leu1483=)
|
|
|
NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln)
|
rs537893174
|
|
NM_001244008.2(KIF1A):c.4783A>G (p.Met1595Val)
|
|
|
NM_001244008.2(KIF1A):c.4788C>T (p.Ser1596=)
|
|
|
NM_001244008.2(KIF1A):c.4888C>T (p.Arg1630Trp)
|
rs202072706
|
|
NM_001244008.2(KIF1A):c.865-24CT[2]
|
rs140674901
|
|
NM_001253852.3(AP4B1):c.338+20_338+23del
|
rs537405509
|
|
NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)
|
|
|
NM_001256071.3(RNF213):c.12942+97del
|
rs142169239
|
|
NM_001256864.2(DNAJC6):c.1041C>A (p.Ile347=)
|
|
|
NM_001256864.2(DNAJC6):c.194-6del
|
rs58549467
|
|
NM_001256864.2(DNAJC6):c.194-7_194-6del
|
|
|
NM_001256864.2(DNAJC6):c.2025G>A (p.Ser675=)
|
|
|
NM_001256864.2(DNAJC6):c.544-20C>T
|
|
|
NM_001256864.2(DNAJC6):c.845G>A (p.Arg282His)
|
|
|
NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile)
|
rs369823081
|
|
NM_001271.4(CHD2):c.1199-12del
|
rs750508601
|
|
NM_001271.4(CHD2):c.1199-12dup
|
|
|
NM_001271.4(CHD2):c.2949G>A (p.Leu983=)
|
|
|
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)
|
rs150268140
|
|
NM_001271.4(CHD2):c.3595+18dup
|
rs767906397
|
|
NM_001271.4(CHD2):c.4008+8C>A
|
|
|
NM_001271.4(CHD2):c.4279-6dup
|
rs747909672
|
|
NM_001271.4(CHD2):c.4413+21del
|
|
|
NM_001271.4(CHD2):c.4593-3del
|
rs1270315601
|
|
NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr)
|
rs761860129
|
|
NM_001271.4(CHD2):c.5104C>G (p.Gln1702Glu)
|
rs1478847821
|
|
NM_001271.4(CHD2):c.5192T>G (p.Phe1731Cys)
|
|
|
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser)
|
rs200687736
|
|
NM_001271696.3(ABCB7):c.168+69C>G
|
rs1039123
|
|
NM_001271803.2(REEP2):c.33-10G>A
|
rs370528887
|
|
NM_001271803.2(REEP2):c.486G>A (p.Glu162=)
|
|
|
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)
|
rs1047006
|
|
NM_001278116.2(L1CAM):c.-109+234del
|
rs199975679
|
|
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG
|
rs143464562
|
|
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val)
|
rs564373258
|
|
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup)
|
rs577498739
|
|
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del)
|
rs771131110
|
|
NM_001282597.3(CTNNA2):c.-5-14A>G
|
rs3739139
|
|
NM_001288705.3(CSF1R):c.*231C>G
|
rs78449650
|
|
NM_001288705.3(CSF1R):c.*231_*232insG
|
rs3216780
|
|
NM_001288705.3(CSF1R):c.2132+5C>T
|
rs17110908
|
|
NM_001288705.3(CSF1R):c.2239G>A (p.Gly747Arg)
|
rs41355444
|
|
NM_001288705.3(CSF1R):c.225C>T (p.Thr75=)
|
rs781021919
|
|
NM_001288705.3(CSF1R):c.2762G>C (p.Arg921Pro)
|
rs56059682
|
|
NM_001303052.2(MYT1L):c.2775-37G>A
|
rs7425544
|
|
NM_001303052.2(MYT1L):c.3033A>G (p.Gly1011=)
|
rs6728368
|
|
NM_001321075.3(DLG4):c.30+18G>A
|
|
|
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile)
|
rs267608629
|
|
NM_001323289.2(CDKL5):c.145+4_145+5dup
|
rs776844003
|
|
NM_001323289.2(CDKL5):c.145+5AT[10]
|
rs745969938
|
|
NM_001323289.2(CDKL5):c.145+5AT[11]
|
rs745969938
|
|
NM_001323289.2(CDKL5):c.145+5AT[13]
|
rs745969938
|
|
NM_001323289.2(CDKL5):c.145+5AT[14]
|
rs745969938
|
|
NM_001323289.2(CDKL5):c.1689A>C (p.Arg563Ser)
|
|
|
NM_001323289.2(CDKL5):c.1700C>T (p.Thr567Met)
|
|
|
NM_001323289.2(CDKL5):c.2103A>G (p.Arg701=)
|
|
|
NM_001323289.2(CDKL5):c.2152+18A>G
|
|
|
NM_001323289.2(CDKL5):c.2153-18T>G
|
|
|
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=)
|
rs747554139
|
|
NM_001323289.2(CDKL5):c.2277-13T>C
|
|
|
NM_001323289.2(CDKL5):c.2355_2357del (p.Lys789del)
|
|
|
NM_001323289.2(CDKL5):c.2666T>G (p.Ile889Ser)
|
|
|
NM_001323289.2(CDKL5):c.2677C>T (p.Pro893Ser)
|
|
|
NM_001323289.2(CDKL5):c.2706G>T (p.Gln902His)
|
|
|
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=)
|
rs786204958
|
|
NM_001323289.2(CDKL5):c.573C>T (p.Ser191=)
|
|
|
NM_001323289.2(CDKL5):c.977+7A>G
|
rs770011012
|
|
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe)
|
rs186659284
|
|
NM_001329943.3(KIAA0586):c.1584-5del
|
|
|
NM_001329943.3(KIAA0586):c.199+23del
|
rs537837939
|
|
NM_001329943.3(KIAA0586):c.2944+24dup
|
rs768128741
|
|
NM_001329943.3(KIAA0586):c.2945-9del
|
|
|
NM_001329943.3(KIAA0586):c.3144+15del
|
|
|
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala)
|
rs386777947
|
|
NM_001329943.3(KIAA0586):c.3305-8dup
|
rs5808973
|
|
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup
|
rs5808973
|
|
NM_001329943.3(KIAA0586):c.340+25dup
|
rs770708728
|
|
NM_001329943.3(KIAA0586):c.340+6del
|
|
|
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
|
|
|
NM_001329943.3(KIAA0586):c.962-10dup
|
rs1431902070
|
|
NM_001330260.2(SCN8A):c.1635+17dup
|
rs756694666
|
|
NM_001330260.2(SCN8A):c.1636-16del
|
rs754973942
|
|
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1])
|
rs758276968
|
|
NM_001330260.2(SCN8A):c.1960G>A (p.Gly654Ser)
|
rs905574009
|
|
NM_001330260.2(SCN8A):c.1969T>G (p.Ser657Ala)
|
rs1429377869
|
|
NM_001330260.2(SCN8A):c.1999-5del
|
rs769940455
|
|
NM_001330260.2(SCN8A):c.1999-5dup
|
rs769940455
|
|
NM_001330260.2(SCN8A):c.2131+7G>T
|
rs756286753
|
|
NM_001330260.2(SCN8A):c.2371-32A>C
|
rs303767
|
|
NM_001330260.2(SCN8A):c.2475C>A (p.Val825=)
|
rs535061303
|
|
NM_001330260.2(SCN8A):c.2545-7dup
|
rs56879517
|
|
NM_001330260.2(SCN8A):c.2545-8_2545-7dup
|
rs56879517
|
|
NM_001330260.2(SCN8A):c.2685A>G (p.Gln895=)
|
rs528126331
|
|
NM_001330260.2(SCN8A):c.3384C>A (p.Asp1128Glu)
|
rs1444975127
|
|
NM_001330260.2(SCN8A):c.4419+15dup
|
|
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
|
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=)
|
rs555793953
|
|
NM_001330574.2(ZNF711):c.-473GGC[10]
|
rs758475553
|
|
NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile)
|
rs200444579
|
|
NM_001330723.2(SNX27):c.1240-3del
|
|
|
NM_001330723.2(SNX27):c.1240-3dup
|
rs61159507
|
|
NM_001330723.2(SNX27):c.1240-4_1240-3del
|
rs61159507
|
|
NM_001330723.2(SNX27):c.1519-4dup
|
rs540332829
|
|
NM_001330723.2(SNX27):c.60CGG[5] (p.Gly25dup)
|
rs567208173
|
|
NM_001330723.2(SNX27):c.801+19del
|
rs2102681542
|
|
NM_001347721.2(DYRK1A):c.10+5C>T
|
|
|
NM_001347721.2(DYRK1A):c.1012C>T (p.Leu338Phe)
|
|
|
NM_001347721.2(DYRK1A):c.1121A>G (p.His374Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1508C>G (p.Ser503Trp)
|
rs1555991126
|
|
NM_001347721.2(DYRK1A):c.1565C>T (p.Pro522Leu)
|
rs2148651660
|
|
NM_001347721.2(DYRK1A):c.1645-3C>A
|
|
|
NM_001347721.2(DYRK1A):c.1645-7C>A
|
rs1198926046
|
|
NM_001347721.2(DYRK1A):c.1693C>T (p.Pro565Ser)
|
rs768231661
|
|
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys)
|
rs1041691170
|
|
NM_001347721.2(DYRK1A):c.1803CCA[4] (p.His610del)
|
rs760576043
|
|
NM_001347721.2(DYRK1A):c.1864A>G (p.Arg622Gly)
|
|
|
NM_001347721.2(DYRK1A):c.187C>A (p.Gln63Lys)
|
|
|
NM_001347721.2(DYRK1A):c.1898C>T (p.Thr633Ile)
|
|
|
NM_001347721.2(DYRK1A):c.1958C>T (p.Thr653Met)
|
|
|
NM_001347721.2(DYRK1A):c.2027T>A (p.Val676Glu)
|
|
|
NM_001347721.2(DYRK1A):c.208-34A>G
|
rs201001986
|
|
NM_001347721.2(DYRK1A):c.2137T>G (p.Phe713Val)
|
rs1601336491
|
|
NM_001347721.2(DYRK1A):c.2188A>G (p.Met730Val)
|
rs201958918
|
|
NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu)
|
rs201958918
|
|
NM_001347721.2(DYRK1A):c.2200G>C (p.Ala734Pro)
|
rs1413667922
|
|
NM_001347721.2(DYRK1A):c.348C>G (p.Asp116Glu)
|
rs150200258
|
|
NM_001347721.2(DYRK1A):c.376G>A (p.Val126Ile)
|
rs1297803457
|
|
NM_001347721.2(DYRK1A):c.43G>A (p.Val15Ile)
|
rs780200883
|
|
NM_001347721.2(DYRK1A):c.47G>A (p.Arg16Gln)
|
rs1057175147
|
|
NM_001347721.2(DYRK1A):c.509G>A (p.Arg170His)
|
|
|
NM_001347721.2(DYRK1A):c.578T>C (p.Ile193Thr)
|
|
|
NM_001347721.2(DYRK1A):c.737G>A (p.Arg246Gln)
|
rs2148612639
|
|
NM_001347721.2(DYRK1A):c.7A>G (p.Thr3Ala)
|
rs2148427299
|
|
NM_001347721.2(DYRK1A):c.88A>G (p.Met30Val)
|
rs762466544
|
|
NM_001347721.2(DYRK1A):c.88A>T (p.Met30Leu)
|
|
|
NM_001348323.3(TRIP12):c.1133+21del
|
rs11373804
|
|
NM_001349.4(DARS1):c.505-3del
|
rs34744196
|
|
NM_001350451.2(RBFOX3):c.622+3dup
|
rs1351338220
|
|
NM_001350451.2(RBFOX3):c.936+15G>A
|
rs377444179
|
|
NM_001351132.2(PEX5):c.*1134dup
|
rs11448434
|
|
NM_001351132.2(PEX5):c.*628G>A
|
rs12316371
|
|
NM_001351132.2(PEX5):c.*628G>C
|
rs12316371
|
|
NM_001351132.2(PEX5):c.-20C>G
|
rs12227917
|
|
NM_001351132.2(PEX5):c.1394+14dup
|
rs1186018434
|
|
NM_001351132.2(PEX5):c.1413G>C (p.Val471=)
|
rs115760878
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
NM_001351132.2(PEX5):c.148-15_148-12del
|
rs774517551
|
|
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA
|
rs141721291
|
|
NM_001351132.2(PEX5):c.551+113_551+114dup
|
rs5796268
|
|
NM_001351132.2(PEX5):c.754-8del
|
|
|
NM_001351132.2(PEX5):c.966+24dup
|
rs1944415107
|
|
NM_001351169.2(NT5C2):c.634-13dup
|
|
|
NM_001351169.2(NT5C2):c.772-5del
|
|
|
NM_001352514.2(HLCS):c.*1206C>A
|
rs73902720
|
|
NM_001352514.2(HLCS):c.*2622G>A
|
rs14407
|
|
NM_001352514.2(HLCS):c.*7_*9del
|
rs201681436
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
NM_001352514.2(HLCS):c.1621-13_1621-10del
|
rs377641674
|
|
NM_001352514.2(HLCS):c.1960+117A>T
|
rs2835455
|
|
NM_001352514.2(HLCS):c.2237-7dup
|
|
|
NM_001352514.2(HLCS):c.2450+136C>T
|
rs9977769
|
|
NM_001352514.2(HLCS):c.2451-4del
|
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
NM_001353921.2(ARHGEF9):c.1321+16G>T
|
|
|
NM_001353921.2(ARHGEF9):c.1322-10del
|
|
|
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu)
|
rs374753195
|
|
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)
|
|
|
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)
|
|
|
NM_001353921.2(ARHGEF9):c.30+10T>C
|
|
|
NM_001353921.2(ARHGEF9):c.583-13del
|
|
|
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser)
|
rs782497496
|
|
NM_001353921.2(ARHGEF9):c.816-12_816-11del
|
rs781845457
|
|
NM_001356.5(DDX3X):c.42G>C (p.Gln14His)
|
rs2147332861
|
|
NM_001359.2(DECR1):c.885+9del
|
rs147668665
|
|
NM_001363118.2(SLC52A2):c.1065G>T (p.Ala355=)
|
rs200618841
|
|
NM_001363118.2(SLC52A2):c.1245C>T (p.Gly415=)
|
rs545630597
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001363118.2(SLC52A2):c.888C>A (p.Ala296=)
|
rs375399467
|
|
NM_001365088.1(SLC12A6):c.*1087C>A
|
rs4779660
|
|
NM_001365088.1(SLC12A6):c.271+17647C>G
|
rs347867
|
|
NM_001365536.1(SCN9A):c.*2616_*2626del
|
rs145255931
|
|
NM_001365536.1(SCN9A):c.*798dup
|
rs564394161
|
|
NM_001365536.1(SCN9A):c.1603-14dup
|
rs200430382
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001365536.1(SCN9A):c.1975-3del
|
rs35888674
|
|
NM_001365536.1(SCN9A):c.1975-3dup
|
rs35888674
|
|
NM_001365536.1(SCN9A):c.2105-8dup
|
rs780997397
|
|
NM_001365536.1(SCN9A):c.2601T>A (p.Gly867=)
|
rs199787949
|
|
NM_001365536.1(SCN9A):c.2613A>G (p.Leu871=)
|
rs200568637
|
|
NM_001365536.1(SCN9A):c.2874+13del
|
rs200434162
|
|
NM_001365536.1(SCN9A):c.2875-20del
|
|
|
NM_001365536.1(SCN9A):c.2875-6_2875-5delinsG
|
rs1558999342
|
|
NM_001365536.1(SCN9A):c.4399-10_4399-7del
|
rs77944059
|
|
NM_001365536.1(SCN9A):c.689-20C>G
|
rs112644902
|
|
NM_001365999.1(SZT2):c.154-37G>C
|
rs710249
|
|
NM_001365999.1(SZT2):c.2550+5G>A
|
rs41270349
|
|
NM_001365999.1(SZT2):c.2550+5G>T
|
rs41270349
|
|
NM_001365999.1(SZT2):c.5905-13C>G
|
rs200996082
|
|
NM_001365999.1(SZT2):c.6508+16G>T
|
rs2782648
|
|
NM_001365999.1(SZT2):c.675G>A (p.Lys225=)
|
rs564963914
|
|
NM_001365999.1(SZT2):c.7812T>A (p.Ala2604=)
|
rs551577660
|
|
NM_001365999.1(SZT2):c.7874-16C>G
|
rs72883828
|
|
NM_001365999.1(SZT2):c.9883C>T (p.Leu3295=)
|
rs534948696
|
|
NM_001367534.1(CAMK2G):c.696+49del
|
rs67135801
|
|
NM_001367561.1(DOCK7):c.1283-14del
|
rs541344421
|
|
NM_001367561.1(DOCK7):c.1283-14dup
|
rs541344421
|
|
NM_001367561.1(DOCK7):c.1520-17dup
|
|
|
NM_001367561.1(DOCK7):c.1683-15199A>G
|
rs77871363
|
|
NM_001367561.1(DOCK7):c.1872-9del
|
rs199915737
|
|
NM_001367561.1(DOCK7):c.1872-9dup
|
rs199915737
|
|
NM_001367561.1(DOCK7):c.3046-4dup
|
rs574290909
|
|
NM_001367561.1(DOCK7):c.321-4del
|
|
|
NM_001367561.1(DOCK7):c.3781+15_3781+56del
|
rs533117910
|
|
NM_001367561.1(DOCK7):c.541A>G (p.Met181Val)
|
rs61743961
|
|
NM_001367561.1(DOCK7):c.5962-7del
|
rs2149258818
|
|
NM_001367561.1(DOCK7):c.6381-6dup
|
rs773882812
|
|
NM_001367561.1(DOCK7):c.819-11dup
|
|
|
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_001368894.2(PAX6):c.*20_*21del (p.Ter437=)
|
rs759391101
|
|
NM_001368894.2(PAX6):c.*21dup (p.Ter437=)
|
rs759391101
|
|
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=)
|
rs577268289
|
|
NM_001370658.1(BTD):c.-17+13C>G
|
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
NM_001370658.1(BTD):c.400-8dup
|
rs397514361
|
|
NM_001371279.1(REEP1):c.*1987G>A
|
rs144937908
|
|
NM_001371279.1(REEP1):c.*509T>C
|
rs145058780
|
|
NM_001371279.1(REEP1):c.106-12C>G
|
|
|
NM_001371279.1(REEP1):c.32+19del
|
|
|
NM_001371279.1(REEP1):c.60G>A (p.Ala20=)
|
rs186480337
|
|
NM_001371279.1(REEP1):c.784-18_784-15del
|
rs760605373
|
|
NM_001371596.2(MFSD8):c.1103-11del
|
|
|
NM_001371596.2(MFSD8):c.1351-6del
|
rs777941105
|
|
NM_001371596.2(MFSD8):c.1351-9C>A
|
rs75039907
|
|
NM_001371596.2(MFSD8):c.1351-9C>T
|
rs75039907
|
|
NM_001371596.2(MFSD8):c.63-16del
|
rs749859985
|
|
NM_001371596.2(MFSD8):c.63-16dup
|
|
|
NM_001371596.2(MFSD8):c.699-4del
|
rs2148902873
|
|
NM_001371596.2(MFSD8):c.864-6del
|
rs200526922
|
|
NM_001371596.2(MFSD8):c.864-6dup
|
rs200526922
|
|
NM_001371596.2(MFSD8):c.864-8_864-6del
|
rs200526922
|
|
NM_001371727.1(GABRB2):c.1040G>A (p.Ser347Asn)
|
rs1753820203
|
|
NM_001371727.1(GABRB2):c.1088A>G (p.Lys363Arg)
|
rs1561608651
|
|
NM_001371727.1(GABRB2):c.1094T>G (p.Ile365Ser)
|
rs1758366511
|
|
NM_001371727.1(GABRB2):c.1168A>C (p.Asn390His)
|
rs1026621473
|
|
NM_001371727.1(GABRB2):c.1178T>C (p.Phe393Ser)
|
rs2113389282
|
|
NM_001371727.1(GABRB2):c.1192-3C>T
|
|
|
NM_001371727.1(GABRB2):c.1228G>A (p.Glu410Lys)
|
|
|
NM_001371727.1(GABRB2):c.1386A>T (p.Gln462His)
|
rs2113333435
|
|
NM_001371727.1(GABRB2):c.1501T>A (p.Phe501Ile)
|
rs2113333244
|
|
NM_001371727.1(GABRB2):c.169+5T>C
|
|
|
NM_001371727.1(GABRB2):c.190A>G (p.Met64Val)
|
rs2113486772
|
|
NM_001371727.1(GABRB2):c.238-14del
|
rs539366743
|
|
NM_001371727.1(GABRB2):c.238-14dup
|
rs539366743
|
|
NM_001371727.1(GABRB2):c.458+3C>T
|
rs2113263600
|
|
NM_001371727.1(GABRB2):c.459A>G (p.Arg153=)
|
rs2113114646
|
|
NM_001371727.1(GABRB2):c.542-32GT[7]
|
rs141330383
|
|
NM_001371727.1(GABRB2):c.680-3T>C
|
rs763357499
|
|
NM_001371727.1(GABRB2):c.70G>A (p.Ala24Thr)
|
|
|
NM_001371727.1(GABRB2):c.77+6T>A
|
rs1760991511
|
|
NM_001371727.1(GABRB2):c.833-4del
|
rs777633076
|
|
NM_001371727.1(GABRB2):c.833-4dup
|
|
|
NM_001371928.1(AHDC1):c.2726C>G (p.Pro909Arg)
|
rs776465786
|
|
NM_001371928.1(AHDC1):c.2850G>A (p.Pro950=)
|
rs151218177
|
|
NM_001371928.1(AHDC1):c.3104CCT[1] (p.Ser1036del)
|
rs111827498
|
|
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del)
|
rs754444655
|
|
NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=)
|
rs547570973
|
|
NM_001372574.1(ATXN2):c.289-11dup
|
rs144235483
|
|
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)
|
rs10560189
|
|
NM_001374828.1(ARID1B):c.2137-3dup
|
rs541477699
|
|
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=)
|
rs752231248
|
|
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=)
|
rs745740327
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783
|
|
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
rs143574214
|
|
NM_001376.5(DYNC1H1):c.962-15dup
|
rs3830914
|
|
NM_001377265.1(MAPT):c.*3078=
|
|
|
NM_001377265.1(MAPT):c.1761C>T (p.Ser587=)
|
|
|
NM_001377265.1(MAPT):c.1974G>A (p.Leu658=)
|
rs373081497
|
|
NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del)
|
rs748138546
|
|
NM_001378120.1(MBD5):c.1249A>G (p.Met417Val)
|
rs1250224277
|
|
NM_001378120.1(MBD5):c.156A>G (p.Thr52=)
|
rs796958008
|
|
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=)
|
rs772127604
|
|
NM_001378120.1(MBD5):c.2285A>G (p.His762Arg)
|
rs2105641515
|
|
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala)
|
rs894958571
|
|
NM_001378120.1(MBD5):c.2519-10_2519-9del
|
rs5835195
|
|
NM_001378120.1(MBD5):c.2519-9del
|
rs5835195
|
|
NM_001378120.1(MBD5):c.2859C>A (p.Ile953=)
|
|
|
NM_001378120.1(MBD5):c.4358G>A (p.Gly1453Asp)
|
rs1197271060
|
|
NM_001378120.1(MBD5):c.5113-6T>G
|
rs2105294854
|
|
NM_001378120.1(MBD5):c.871A>G (p.Met291Val)
|
rs1680681539
|
|
NM_001378452.1(ITPR1):c.-315C>T
|
rs572878578
|
|
NM_001378452.1(ITPR1):c.-341A>T
|
rs565843811
|
|
NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=)
|
rs2306869
|
|
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=)
|
rs2306869
|
|
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=)
|
rs555819278
|
|
NM_001378452.1(ITPR1):c.4407+44GT[18]
|
rs35795762
|
|
NM_001378452.1(ITPR1):c.951+35G>C
|
rs6442895
|
|
NM_001378457.1(DMXL2):c.6833+11del
|
rs11291027
|
|
NM_001378457.1(DMXL2):c.7520+35del
|
rs10706765
|
|
NM_001378615.1(CC2D2A):c.40-122A>C
|
rs9993580
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
NM_001378969.1(KCND3):c.1106+15G>A
|
|
|
NM_001378969.1(KCND3):c.1107-47915C>T
|
rs1318670
|
|
NM_001378969.1(KCND3):c.1372-6dup
|
rs769051410
|
|
NM_001378969.1(KCND3):c.1518+12del
|
|
|
NM_001378969.1(KCND3):c.633G>T (p.Pro211=)
|
rs35131566
|
|
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_001382391.1(CSPP1):c.-10-5del
|
|
|
NM_001382391.1(CSPP1):c.-10-5dup
|
rs536000854
|
|
NM_001382391.1(CSPP1):c.1023-7dup
|
rs781187284
|
|
NM_001382391.1(CSPP1):c.1288-12dup
|
rs759923250
|
|
NM_001382391.1(CSPP1):c.1619-8del
|
|
|
NM_001382391.1(CSPP1):c.200-5del
|
|
|
NM_001382391.1(CSPP1):c.200-5dup
|
rs775661180
|
|
NM_001382391.1(CSPP1):c.2128+25_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+34_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+35_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2392-8_2392-4del
|
rs528357182
|
|
NM_001382391.1(CSPP1):c.2539-4del
|
rs754861164
|
|
NM_001382391.1(CSPP1):c.3330+17del
|
|
|
NM_001382391.1(CSPP1):c.385-16del
|
|
|
NM_001382391.1(CSPP1):c.385-9dup
|
|
|
NM_001385079.1(PDE10A):c.1692G>A (p.Ala564=)
|
rs220740
|
|
NM_001385875.1(ZFYVE27):c.*1150C>T
|
rs573448961
|
|
NM_001385875.1(ZFYVE27):c.*1308A>C
|
rs1047537
|
|
NM_001385875.1(ZFYVE27):c.*163C>G
|
rs41290464
|
|
NM_001385875.1(ZFYVE27):c.*163C>T
|
rs41290464
|
|
NM_001385875.1(ZFYVE27):c.1089+3G>A
|
rs556454107
|
|
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser)
|
rs772602972
|
|
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)
|
rs563558722
|
|
NM_001386393.1(PANK2):c.1083-13del
|
|
|
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT
|
rs1555789541
|
|
NM_001386393.1(PANK2):c.1207-12dup
|
rs1252234662
|
|
NM_001386393.1(PANK2):c.1332+16C>A
|
rs142997448
|
|
NM_001386393.1(PANK2):c.255G>T (p.Ser85=)
|
rs375741383
|
|
NM_001386393.1(PANK2):c.299-14del
|
|
|
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)
|
rs3737084
|
|
NM_001386393.1(PANK2):c.652-18A>C
|
rs200451247
|
|
NM_001394067.2(RAPGEF2):c.1303-68TG[16]
|
rs59463532
|
|
NM_001394067.2(RAPGEF2):c.1303-68TG[17]
|
rs59463532
|
|
NM_001394067.2(RAPGEF2):c.3713-10del
|
rs11320537
|
|
NM_001414.4(EIF2B1):c.*354C>A
|
rs141505281
|
|
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
|
|
|
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
|
|
|
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
|
|
|
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
|
|
|
NM_001429.4(EP300):c.1283-16C>T
|
rs200548363
|
|
NM_001429.4(EP300):c.1283-19dup
|
|
|
NM_001429.4(EP300):c.1283-6C>G
|
|
|
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
|
|
|
NM_001429.4(EP300):c.156A>G (p.Glu52=)
|
|
|
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn)
|
rs547550163
|
|
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
|
|
|
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
|
|
|
NM_001429.4(EP300):c.1878+19dup
|
|
|
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
|
|
|
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
|
|
|
NM_001429.4(EP300):c.2053+18T>C
|
|
|
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
|
|
|
NM_001429.4(EP300):c.208A>G (p.Met70Val)
|
|
|
NM_001429.4(EP300):c.2131+24dup
|
rs766192274
|
|
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
|
|
|
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
|
|
|
NM_001429.4(EP300):c.231A>G (p.Lys77=)
|
|
|
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
|
|
|
NM_001429.4(EP300):c.2505A>G (p.Val835=)
|
|
|
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
|
|
|
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
|
|
|
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
|
|
|
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
|
|
|
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
|
|
|
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
|
|
|
NM_001429.4(EP300):c.2736G>T (p.Gln912His)
|
|
|
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
|
|
|
NM_001429.4(EP300):c.2746T>A (p.Ser916Thr)
|
|
|
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
|
|
|
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
|
|
|
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
|
|
|
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
|
|
|
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
|
|
|
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
|
|
|
NM_001429.4(EP300):c.3030C>G (p.Thr1010=)
|
rs148414681
|
|
NM_001429.4(EP300):c.3030C>T (p.Thr1010=)
|
rs148414681
|
|
NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
|
|
|
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
|
|
|
NM_001429.4(EP300):c.3143-4del
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-5_3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-6_3143-4dup
|
|
|
NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
|
|
|
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
|
|
|
NM_001429.4(EP300):c.3354C>T (p.Val1118=)
|
rs11704815
|
|
NM_001429.4(EP300):c.33T>A (p.Pro11=)
|
|
|
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
|
|
|
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
|
|
|
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
|
|
|
NM_001429.4(EP300):c.3806+3A>G
|
rs1601629363
|
|
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
|
|
|
NM_001429.4(EP300):c.3936A>T (p.Arg1312=)
|
|
|
NM_001429.4(EP300):c.3984T>C (p.Ala1328=)
|
|
|
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
|
|
|
NM_001429.4(EP300):c.3996C>T (p.Thr1332=)
|
rs142288817
|
|
NM_001429.4(EP300):c.4188T>A (p.Ser1396=)
|
|
|
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
|
|
|
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
|
|
|
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
|
|
|
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
|
|
|
NM_001429.4(EP300):c.4687C>T (p.Leu1563=)
|
rs564848230
|
|
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val)
|
rs140154690
|
|
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
|
|
|
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
|
|
|
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
|
|
|
NM_001429.4(EP300):c.524C>T (p.Pro175Leu)
|
|
|
NM_001429.4(EP300):c.532T>C (p.Leu178=)
|
|
|
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
|
|
|
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
|
|
|
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
|
|
|
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
|
|
|
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
|
|
|
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
|
|
|
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
|
|
|
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
|
|
|
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
|
|
|
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
|
|
|
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
|
|
|
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
|
|
|
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
|
|
|
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
|
|
|
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
|
|
|
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
|
|
|
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
|
|
|
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
|
|
|
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
|
|
|
NM_001429.4(EP300):c.6351C>T (p.Thr2117=)
|
|
|
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
|
|
|
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
|
|
|
NM_001429.4(EP300):c.63G>C (p.Pro21=)
|
|
|
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
|
|
|
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
|
|
|
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
|
|
|
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
|
|
|
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
|
|
|
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
|
|
|
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
|
|
|
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
|
|
|
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
|
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg)
|
|
|
NM_001429.4(EP300):c.6867C>T (p.Ala2289=)
|
|
|
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala)
|
|
|
NM_001429.4(EP300):c.6921G>A (p.Val2307=)
|
|
|
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
|
|
|
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
|
|
|
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
|
|
|
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
|
|
|
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg)
|
|
|
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
|
|
|
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
|
|
|
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
|
|
|
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
|
|
|
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
|
|
|
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp)
|
|
|
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
|
|
|
NM_001429.4(EP300):c.730-18_730-9del
|
rs61120041
|
|
NM_001429.4(EP300):c.750C>T (p.Pro250=)
|
|
|
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
|
|
|
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
|
|
|
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
|
|
|
NM_001429.4(EP300):c.963A>G (p.Gln321=)
|
|
|
NM_001447.3(FAT2):c.12060-13_12060-11dup
|
rs66498388
|
|
NM_001482.3(GATM):c.*125G>A
|
rs143689218
|
|
NM_001482.3(GATM):c.*595C>A
|
rs75565512
|
|
NM_001482.3(GATM):c.*734_*735insCA
|
rs35410548
|
|
NM_001482.3(GATM):c.1159+19A>T
|
rs187979088
|
|
NM_001482.3(GATM):c.288+184_288+195del
|
rs6145546
|
|
NM_001482.3(GATM):c.485-11dup
|
rs758611156
|
|
NM_001482.3(GATM):c.979-11del
|
rs202176047
|
|
NM_001482.3(GATM):c.979-12_979-11del
|
rs202176047
|
|
NM_001482.3(GATM):c.979-18dup
|
rs202176047
|
|
NM_001482.3(GATM):c.979-19del
|
|
|
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup)
|
rs571387097
|
|
NM_001510.4(GRID2):c.735+21G>C
|
rs2271385
|
|
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)
|
rs765197724
|
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768
|
|
NM_001540.5(HSPB1):c.365-7C>T
|
rs201897299
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_001543.5(NDST1):c.1846+23G>C
|
rs2304063
|
|
NM_001543.5(NDST1):c.750A>G (p.Pro250=)
|
rs2273234
|
|
NM_001776.6(ENTPD1):c.1326+12del
|
|
|
NM_001776.6(ENTPD1):c.1494C>T (p.Ile498=)
|
rs565508317
|
|
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_001845.6(COL4A1):c.-90G>T
|
rs113651836
|
|
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala)
|
rs1878244032
|
|
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=)
|
rs535848796
|
|
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)
|
rs3742207
|
|
NM_001845.6(COL4A1):c.468+5ATTTT[2]
|
rs3832900
|
|
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=)
|
rs146638269
|
|
NM_001845.6(COL4A1):c.494A>G (p.His165Arg)
|
rs200805263
|
|
NM_001845.6(COL4A1):c.808-7C>A
|
rs9588116
|
|
NM_001845.6(COL4A1):c.808-7C>G
|
rs9588116
|
|
NM_001846.4(COL4A2):c.*101_*102del
|
rs397838577
|
|
NM_001846.4(COL4A2):c.*727G>C
|
rs15457
|
|
NM_001846.4(COL4A2):c.-215C>A
|
rs7990017
|
|
NM_001846.4(COL4A2):c.-232C>G
|
rs7990009
|
|
NM_001846.4(COL4A2):c.3087C>T (p.Pro1029=)
|
rs201630262
|
|
NM_001846.4(COL4A2):c.4882-13C>G
|
rs375187382
|
|
NM_001846.4(COL4A2):c.4968C>T (p.Ile1656=)
|
rs148666408
|
|
NM_001846.4(COL4A2):c.49C>T (p.Leu17=)
|
rs200430407
|
|
NM_001846.4(COL4A2):c.862-41G>A
|
rs7984100
|
|
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_001909.5(CTSD):c.69-17del
|
|
|
NM_001909.5(CTSD):c.827+111del
|
rs55725229
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001931.4(DLAT):c.381+22delT
|
rs5794771
|
|
NM_001931.5(DLAT):c.1399-13_1399-11del
|
rs587691611
|
|
NM_001931.5(DLAT):c.1515-13dup
|
|
|
NM_001931.5(DLAT):c.1678-8del
|
rs781833307
|
|
NM_001931.5(DLAT):c.270G>C (p.Pro90=)
|
|
|
NM_001931.5(DLAT):c.279+18dup
|
|
|
NM_001958.5(EEF1A2):c.1029+3G>T
|
rs111392970
|
|
NM_001958.5(EEF1A2):c.1265-10del
|
rs1170731512
|
|
NM_001958.5(EEF1A2):c.1265-15dup
|
rs1170731512
|
|
NM_001958.5(EEF1A2):c.1265-3del
|
|
|
NM_001958.5(EEF1A2):c.1275C>A (p.Ala425=)
|
rs1290491559
|
|
NM_001958.5(EEF1A2):c.1320C>T (p.Asn440=)
|
rs367803280
|
|
NM_001958.5(EEF1A2):c.150G>T (p.Gly50=)
|
rs751627255
|
|
NM_002025.4(AFF2):c.1558-78G>C
|
rs16994868
|
|
NM_002047.4(GARS1):c.-36C>A
|
rs531483802
|
|
NM_002055.5(GFAP):c.462-8dup
|
rs572562362
|
|
NM_002087.4(GRN):c.1180-3del
|
|
|
NM_002087.4(GRN):c.350-50_350-47dup
|
rs34424835
|
|
NM_002087.4(GRN):c.414G>C (p.Thr138=)
|
rs543344476
|
|
NM_002087.4(GRN):c.463-6dup
|
rs780699082
|
|
NM_002087.4(GRN):c.933+11del
|
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_002111.8(HTT):c.52CAG[?_25]
|
|
|
NM_002137.4(HNRNPA2B1):c.476-16G>A
|
rs546524344
|
|
NM_002137.4(HNRNPA2B1):c.659-13del
|
|
|
NM_002137.4(HNRNPA2B1):c.659-13dup
|
rs754016775
|
|
NM_002137.4(HNRNPA2B1):c.659-14_659-13del
|
rs754016775
|
|
NM_002137.4(HNRNPA2B1):c.659-7C>G
|
rs199606705
|
|
NM_002137.4(HNRNPA2B1):c.7-137del
|
rs759915055
|
|
NM_002137.4(HNRNPA2B1):c.7-143del
|
rs57800062
|
|
NM_002137.4(HNRNPA2B1):c.7-143dup
|
|
|
NM_002137.4(HNRNPA2B1):c.7-145_7-143del
|
|
|
NM_002137.4(HNRNPA2B1):c.842-11dup
|
rs1465279377
|
|
NM_002139.4(RBMX):c.-1C>A
|
rs2011584
|
|
NM_002156.5(HSPD1):c.-20C>G
|
rs563816458
|
|
NM_002156.5(HSPD1):c.-3+15C>T
|
rs59701865
|
|
NM_002156.5(HSPD1):c.1434C>G (p.Thr478=)
|
rs199527127
|
|
NM_002180.3(IGHMBP2):c.1212G>T (p.Leu404=)
|
|
|
NM_002180.3(IGHMBP2):c.1538-20C>T
|
rs147148090
|
|
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=)
|
rs149185954
|
|
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.256+138A>G
|
|
|
NM_002180.3(IGHMBP2):c.2870A>G (p.Lys957Arg)
|
rs572019890
|
|
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=)
|
rs76690064
|
|
NM_002180.3(IGHMBP2):c.86+7G>C
|
rs527948004
|
|
NM_002222.6(ITPR1):c.*1531G>T
|
rs9817206
|
|
NM_002361.4(MAG):c.228G>A (p.Ser76=)
|
rs142334011
|
|
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln)
|
rs796052727
|
|
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe)
|
rs2152207244
|
|
NM_002397.5(MEF2C):c.1100+6C>G
|
rs1759908843
|
|
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro)
|
rs1554098567
|
|
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala)
|
rs1194300256
|
|
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu)
|
rs2152673396
|
|
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
|
|
|
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
|
|
|
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala)
|
rs1561821810
|
|
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg)
|
rs1310323196
|
|
NM_002397.5(MEF2C):c.638-14dup
|
rs754587449
|
|
NM_002397.5(MEF2C):c.638-9del
|
|
|
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val)
|
rs2152280607
|
|
NM_002397.5(MEF2C):c.965-6_965-2del
|
rs1064795146
|
|
NM_002541.4(OGDH):c.1137C>T (p.Ala379=)
|
|
|
NM_002541.4(OGDH):c.1152G>A (p.Val384=)
|
|
|
NM_002541.4(OGDH):c.2145G>A (p.Val715=)
|
|
|
NM_002541.4(OGDH):c.2632+17T>C
|
|
|
NM_002541.4(OGDH):c.39A>C (p.Pro13=)
|
rs34777281
|
|
NM_002541.4(OGDH):c.414+20C>T
|
|
|
NM_002541.4(OGDH):c.518-15C>T
|
|
|
NM_002578.5(PAK3):c.*515del
|
|
|
NM_002578.5(PAK3):c.-492G>A
|
rs751584564
|
|
NM_002609.4(PDGFRB):c.1063C>T (p.Arg355Cys)
|
|
|
NM_002609.4(PDGFRB):c.1089C>T (p.Gly363=)
|
|
|
NM_002609.4(PDGFRB):c.1127+7A>G
|
|
|
NM_002609.4(PDGFRB):c.1155C>T (p.Arg385=)
|
|
|
NM_002609.4(PDGFRB):c.11C>T (p.Pro4Leu)
|
|
|
NM_002609.4(PDGFRB):c.1368-14G>A
|
|
|
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)
|
|
|
NM_002609.4(PDGFRB):c.1553C>T (p.Thr518Met)
|
|
|
NM_002609.4(PDGFRB):c.1579+10C>T
|
rs571420039
|
|
NM_002609.4(PDGFRB):c.1896C>T (p.Ala632=)
|
|
|
NM_002609.4(PDGFRB):c.1913-16C>G
|
|
|
NM_002609.4(PDGFRB):c.1938A>G (p.Gln646=)
|
|
|
NM_002609.4(PDGFRB):c.1989C>T (p.Asn663=)
|
|
|
NM_002609.4(PDGFRB):c.2129C>T (p.Pro710Leu)
|
|
|
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe)
|
rs142689325
|
|
NM_002609.4(PDGFRB):c.2212G>A (p.Gly738Ser)
|
|
|
NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu)
|
|
|
NM_002609.4(PDGFRB):c.2276G>A (p.Gly759Glu)
|
|
|
NM_002609.4(PDGFRB):c.2280C>T (p.Asp760=)
|
|
|
NM_002609.4(PDGFRB):c.2464-19C>G
|
|
|
NM_002609.4(PDGFRB):c.250G>A (p.Val84Met)
|
|
|
NM_002609.4(PDGFRB):c.2904+15G>A
|
|
|
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
|
|
|
NM_002609.4(PDGFRB):c.3018C>T (p.Ser1006=)
|
|
|
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
|
|
|
NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=)
|
|
|
NM_002609.4(PDGFRB):c.344G>A (p.Arg115Gln)
|
|
|
NM_002609.4(PDGFRB):c.645C>T (p.Asn215=)
|
|
|
NM_002609.4(PDGFRB):c.843C>T (p.Ala281=)
|
|
|
NM_002609.4(PDGFRB):c.882G>A (p.Thr294=)
|
|
|
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)
|
|
|
NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile)
|
|
|
NM_002617.4(PEX10):c.*352G>A
|
rs115735911
|
|
NM_002617.4(PEX10):c.777-12del
|
|
|
NM_002617.4(PEX10):c.913-17del
|
|
|
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser)
|
rs550344775
|
|
NM_002618.4(PEX13):c.914-8dup
|
rs36090948
|
|
NM_002641.4(PIGA):c.1062T>C (p.Ser354=)
|
|
|
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln)
|
rs1602206653
|
|
NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys)
|
|
|
NM_002641.4(PIGA):c.32A>G (p.His11Arg)
|
|
|
NM_002641.4(PIGA):c.34C>T (p.Arg12Cys)
|
|
|
NM_002641.4(PIGA):c.682A>G (p.Ile228Val)
|
|
|
NM_002641.4(PIGA):c.748C>G (p.Leu250Val)
|
|
|
NM_002641.4(PIGA):c.849-20C>T
|
|
|
NM_002693.2(POLG):c.-647A>G
|
rs2856268
|
|
NM_002693.3(POLG):c.1170+18dup
|
rs1274781490
|
|
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.153G>A (p.Gln51=)
|
rs1453538834
|
|
NM_002693.3(POLG):c.2481-10A>C
|
rs555280530
|
|
NM_002693.3(POLG):c.2481-6del
|
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.2734+39_2734+40insAGGT
|
rs2307433
|
|
NM_002693.3(POLG):c.2994G>C (p.Ser998=)
|
rs567030498
|
|
NM_002693.3(POLG):c.3105-16_3105-15del
|
rs146915033
|
|
NM_002693.3(POLG):c.3483-41A>C
|
rs2307436
|
|
NM_002693.3(POLG):c.659+11G>T
|
rs3087379
|
|
NM_002693.3(POLG):c.856-17CTC[4]
|
rs200056162
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002693.3:c.2734+39_2734+40insAGGT
|
rs2152061162
|
|
NM_002778.4(PSAP):c.1193-26G>A
|
rs3747860
|
|
NM_002778.4(PSAP):c.1540-13TC[2]
|
rs770871198
|
|
NM_002778.4(PSAP):c.319A>C (p.Lys107Gln)
|
rs752007600
|
|
NM_002778.4(PSAP):c.409C>G (p.Leu137Val)
|
rs377027316
|
|
NM_002778.4(PSAP):c.41-17G>A
|
rs181164406
|
|
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
|
rs142272618
|
|
NM_002857.4(PEX19):c.181-15A>G
|
rs114403769
|
|
NM_002857.4(PEX19):c.30C>T (p.Val10=)
|
rs144440223
|
|
NM_002857.4(PEX19):c.726C>T (p.Thr242=)
|
rs564013133
|
|
NM_002887.4(RARS1):c.1237-43dup
|
rs34318878
|
|
NM_002913.5(RFC1):c.132+2923=
|
|
|
NM_002979.5(SCP2):c.70-47del
|
rs143386725
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[7]
|
rs34261028
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
NM_003000.3(SDHB):c.73-7del
|
rs2101541662
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
NM_003001.5(SDHC):c.242-9del
|
|
|
NM_003042.4(SLC6A1):c.1113G>A (p.Ala371=)
|
|
|
NM_003042.4(SLC6A1):c.1191+15C>T
|
rs781558890
|
|
NM_003042.4(SLC6A1):c.1191+16_1191+17dup
|
rs3841958
|
|
NM_003042.4(SLC6A1):c.1191+17del
|
rs3841958
|
|
NM_003042.4(SLC6A1):c.1191+17dup
|
rs3841958
|
|
NM_003042.4(SLC6A1):c.1213A>C (p.Ile405Leu)
|
rs759515813
|
|
NM_003042.4(SLC6A1):c.1274C>T (p.Ala425Val)
|
|
|
NM_003042.4(SLC6A1):c.1300A>T (p.Ile434Phe)
|
|
|
NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)
|
|
|
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr)
|
rs1553687887
|
|
NM_003042.4(SLC6A1):c.1598G>C (p.Gly533Ala)
|
rs1698067782
|
|
NM_003042.4(SLC6A1):c.1724A>T (p.Glu575Val)
|
rs1553692346
|
|
NM_003042.4(SLC6A1):c.1727A>C (p.Asp576Ala)
|
rs1698164249
|
|
NM_003042.4(SLC6A1):c.1747G>C (p.Gly583Arg)
|
rs1698165532
|
|
NM_003042.4(SLC6A1):c.1795A>G (p.Ile599Val)
|
rs566659046
|
|
NM_003042.4(SLC6A1):c.30C>T (p.Asp10=)
|
|
|
NM_003042.4(SLC6A1):c.400T>C (p.Phe134Leu)
|
rs1697262942
|
|
NM_003042.4(SLC6A1):c.40T>C (p.Ser14Pro)
|
rs1697187552
|
|
NM_003042.4(SLC6A1):c.535A>T (p.Met179Leu)
|
rs34299874
|
|
NM_003042.4(SLC6A1):c.538G>A (p.Val180Ile)
|
|
|
NM_003042.4(SLC6A1):c.538G>T (p.Val180Phe)
|
rs2124912568
|
|
NM_003042.4(SLC6A1):c.539T>G (p.Val180Gly)
|
rs2124912579
|
|
NM_003042.4(SLC6A1):c.543C>A (p.Asn181Lys)
|
|
|
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu)
|
rs146894194
|
|
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=)
|
rs6344
|
|
NM_003042.4(SLC6A1):c.651G>T (p.Thr217=)
|
rs6344
|
|
NM_003042.4(SLC6A1):c.660C>A (p.Ile220=)
|
rs760984163
|
|
NM_003042.4(SLC6A1):c.912C>A (p.Ile304=)
|
rs35450949
|
|
NM_003054.6(SLC18A2):c.1306+43G>A
|
rs363272
|
|
NM_003070.5(SMARCA2):c.*324G>C
|
rs550337302
|
|
NM_003070.5(SMARCA2):c.2991+10G>A
|
rs17712152
|
|
NM_003070.5(SMARCA2):c.3079-25T>A
|
rs10738570
|
|
NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=)
|
rs150227062
|
|
NM_003070.5(SMARCA2):c.4199+46C>T
|
rs2274095
|
|
NM_003070.5(SMARCA2):c.4584A>G (p.Ser1528=)
|
rs543880790
|
|
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=)
|
rs146359524
|
|
NM_003070.5(SMARCA2):c.517C>T (p.Pro173Ser)
|
rs768229159
|
|
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.750A>G (p.Gln250=)
|
rs62639302
|
|
NM_003072.5(SMARCA4):c.1098C>T (p.Ile366=)
|
rs532242119
|
|
NM_003072.5(SMARCA4):c.120C>T (p.His40=)
|
rs375884151
|
|
NM_003072.5(SMARCA4):c.1594-13del
|
|
|
NM_003072.5(SMARCA4):c.1594-13dup
|
|
|
NM_003072.5(SMARCA4):c.1594-18dup
|
rs778456116
|
|
NM_003072.5(SMARCA4):c.1813-4dup
|
rs1864896196
|
|
NM_003072.5(SMARCA4):c.1944-12C>T
|
rs149763341
|
|
NM_003072.5(SMARCA4):c.1944-5del
|
|
|
NM_003072.5(SMARCA4):c.1944-5dup
|
rs1555768671
|
|
NM_003072.5(SMARCA4):c.223-4G>A
|
rs763383326
|
|
NM_003072.5(SMARCA4):c.2275-17C>G
|
rs201752124
|
|
NM_003072.5(SMARCA4):c.2580C>T (p.Tyr860=)
|
rs776649185
|
|
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=)
|
rs574844383
|
|
NM_003072.5(SMARCA4):c.2860-8del
|
rs2146451474
|
|
NM_003072.5(SMARCA4):c.2973+19dup
|
|
|
NM_003072.5(SMARCA4):c.3547-3dup
|
rs2075055829
|
|
NM_003072.5(SMARCA4):c.4170+17C>T
|
rs145829956
|
|
NM_003072.5(SMARCA4):c.4171-1861del
|
rs551217010
|
|
NM_003072.5(SMARCA4):c.4458C>T (p.Ile1486=)
|
rs550796495
|
|
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=)
|
rs372931195
|
|
NM_003072.5(SMARCA4):c.4636-17del
|
|
|
NM_003072.5(SMARCA4):c.4768+16del
|
rs770591183
|
|
NM_003072.5(SMARCA4):c.4768+16dup
|
rs770591183
|
|
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=)
|
rs568650875
|
|
NM_003072.5(SMARCA4):c.4911+16del
|
|
|
NM_003072.5(SMARCA4):c.4911+16dup
|
rs769996403
|
|
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=)
|
rs567283924
|
|
NM_003079.5(SMARCE1):c.238-4dup
|
|
|
NM_003079.5(SMARCE1):c.541+14del
|
rs766497450
|
|
NM_003079.5(SMARCE1):c.817-15dup
|
rs747318581
|
|
NM_003079.5(SMARCE1):c.817-9del
|
|
|
NM_003104.6(SORD):c.266-35C>T
|
rs2854446
|
|
NM_003119.4(SPG7):c.1365G>A (p.Thr455=)
|
|
|
NM_003119.4(SPG7):c.1553-8_1553-7del
|
rs567981282
|
|
NM_003119.4(SPG7):c.1780-16_1780-14del
|
rs863224213
|
|
NM_003119.4(SPG7):c.618+11_618+68del
|
rs1555611542
|
|
NM_003119.4(SPG7):c.619-47G>A
|
rs3935626
|
|
NM_003119.4(SPG7):c.862-34G>T
|
rs4785690
|
|
NM_003119.4(SPG7):c.987+5A>G
|
rs4785691
|
|
NM_003194.5(TBP):c.216_218del (p.Gln95del)
|
rs71815788
|
|
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe)
|
rs3775291
|
|
NM_003265.3(TLR3):c.2487-7dup
|
rs779960687
|
|
NM_003265.3(TLR3):c.634-12del
|
rs746858510
|
|
NM_003332.4(TYROBP):c.123C>G (p.Gly41=)
|
rs111477177
|
|
NM_003334.4(UBA1):c.1233+20G>C
|
|
|
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)
|
|
|
NM_003334.4(UBA1):c.15G>A (p.Pro5=)
|
|
|
NM_003334.4(UBA1):c.1695C>T (p.Phe565=)
|
rs782804501
|
|
NM_003334.4(UBA1):c.177-13C>T
|
|
|
NM_003334.4(UBA1):c.1836C>G (p.Pro612=)
|
|
|
NM_003334.4(UBA1):c.2003+10T>C
|
|
|
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)
|
|
|
NM_003334.4(UBA1):c.2275-17G>A
|
|
|
NM_003334.4(UBA1):c.261C>T (p.Ile87=)
|
|
|
NM_003334.4(UBA1):c.2646+11T>A
|
rs367788670
|
|
NM_003334.4(UBA1):c.2646+11T>C
|
rs367788670
|
|
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)
|
|
|
NM_003334.4(UBA1):c.2839-13_2839-12del
|
|
|
NM_003334.4(UBA1):c.430G>A (p.Val144Ile)
|
rs781887272
|
|
NM_003334.4(UBA1):c.454G>A (p.Val152Ile)
|
|
|
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
|
|
|
NM_003334.4(UBA1):c.587+21del
|
|
|
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)
|
|
|
NM_003383.5(VLDLR):c.-113C>G
|
rs34433332
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
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_003477.2(PDHX):c.-129_-127delCGG
|
rs371074122
|
|
NM_003560.4(PLA2G6):c.*350C>A
|
rs11570770
|
|
NM_003560.4(PLA2G6):c.-130C>T
|
rs11570597
|
|
NM_003560.4(PLA2G6):c.1078-20C>G
|
rs748042748
|
|
NM_003560.4(PLA2G6):c.1187-14C>T
|
|
|
NM_003560.4(PLA2G6):c.1348+17G>A
|
|
|
NM_003560.4(PLA2G6):c.786C>T (p.Phe262=)
|
rs546742857
|
|
NM_003620.4(PPM1D):c.1262C>A (p.Ser421Ter)
|
|
|
NM_003630.3(PEX3):c.-197T>C
|
rs184934783
|
|
NM_003630.3(PEX3):c.206-14del
|
rs397705490
|
|
NM_003659.4(AGPS):c.*1814_*1815insAGAA
|
rs61052002
|
|
NM_003659.4(AGPS):c.*1880AT[8]
|
rs59535792
|
|
NM_003659.4(AGPS):c.*377C>G
|
rs112754713
|
|
NM_003659.4(AGPS):c.*377C>T
|
rs112754713
|
|
NM_003659.4(AGPS):c.*3854dup
|
rs397783598
|
|
NM_003659.4(AGPS):c.1152C>A (p.Val384=)
|
rs529236041
|
|
NM_003659.4(AGPS):c.563-10del
|
rs3834134
|
|
NM_003690.5(PRKRA):c.203T>A (p.Phe68Tyr)
|
|
|
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)
|
rs141354030
|
|
NM_003690.5(PRKRA):c.515-11del
|
rs199996045
|
|
NM_003690.5(PRKRA):c.610-11_610-10del
|
rs138320145
|
|
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT
|
rs1553599483
|
|
NM_003690.5(PRKRA):c.784+15del
|
rs200581051
|
|
NM_003690.5(PRKRA):c.784+15dup
|
|
|
NM_003719.5(PDE8B):c.858C>T (p.Ser286=)
|
rs575049091
|
|
NM_003730.6(RNASET2):c.648G>A (p.Pro216=)
|
rs35517174
|
|
NM_003754.3(EIF3F):c.*24C>T
|
rs15879
|
|
NM_003790.3(TNFRSF25):c.-43_-36del
|
rs45616733
|
|
NM_003865.3(HESX1):c.358-6del
|
|
|
NM_003865.3(HESX1):c.358-6dup
|
|
|
NM_003900.5(SQSTM1):c.1166-14_1166-11del
|
rs538853972
|
|
NM_003900.5(SQSTM1):c.674-7dup
|
rs761346520
|
|
NM_003900.5(SQSTM1):c.755-12C>G
|
|
|
NM_003907.3(EIF2B5):c.*354AG[3]
|
rs398063089
|
|
NM_003924.4(PHOX2B):c.*1156C>A
|
rs560413438
|
|
NM_003924.4(PHOX2B):c.*194C>T
|
rs186778106
|
|
NM_003924.4(PHOX2B):c.*838A>G
|
rs367652707
|
|
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=)
|
rs547677836
|
|
NM_003924.4(PHOX2B):c.738_776del (p.Ala248_Ala260del)
|
rs757020181
|
|
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)
|
rs775006915
|
|
NM_003924.4(PHOX2B):c.741_761del (p.Ala254_Ala260del)
|
rs749694204
|
|
NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del)
|
rs17879189
|
|
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)
|
rs761018157
|
|
NM_004035.7(ACOX1):c.945-14del
|
|
|
NM_004035.7(ACOX1):c.945-20del
|
|
|
NM_004035.7(ACOX1):c.945-20dup
|
|
|
NM_004068.4(AP2M1):c.340+56G>A
|
rs2231217
|
|
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu)
|
rs570863800
|
|
NM_004082.5(DCTN1):c.1585-16C>T
|
|
|
NM_004082.5(DCTN1):c.1854+20T>A
|
rs369606521
|
|
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg)
|
rs150928856
|
|
NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)
|
|
|
NM_004082.5(DCTN1):c.2761-19C>G
|
rs200545447
|
|
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys)
|
rs373818927
|
|
NM_004082.5(DCTN1):c.280-34_280-12dup
|
rs762313810
|
|
NM_004082.5(DCTN1):c.3212-14dup
|
|
|
NM_004082.5(DCTN1):c.3408T>C (p.His1136=)
|
|
|
NM_004082.5(DCTN1):c.3529+8C>T
|
rs547520298
|
|
NM_004082.5(DCTN1):c.3699+12_3699+23del
|
rs769645845
|
|
NM_004082.5(DCTN1):c.3699+18del
|
|
|
NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)
|
|
|
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)
|
rs146083590
|
|
NM_004082.5(DCTN1):c.393+16del
|
rs529200706
|
|
NM_004082.5(DCTN1):c.627G>T (p.Pro209=)
|
rs147673066
|
|
NM_004082.5(DCTN1):c.810C>G (p.Ala270=)
|
rs569011011
|
|
NM_004082.5(DCTN1):c.858G>T (p.Ala286=)
|
rs151107870
|
|
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu)
|
rs200952455
|
|
NM_004082.5(DCTN1):c.999C>T (p.Asp333=)
|
rs200952455
|
|
NM_004085.4(TIMM8A):c.*503_*505dup
|
rs4024308
|
|
NM_004115.4(FGF14):c.*1387_*1390dup
|
rs10626847
|
|
NM_004115.4(FGF14):c.*1618T>A
|
rs15608
|
|
NM_004115.4(FGF14):c.*972dup
|
rs34628929
|
|
NM_004115.4(FGF14):c.468C>T (p.Ile156=)
|
rs558694053
|
|
NM_004115.4(FGF14):c.693G>A (p.Ala231=)
|
rs34397704
|
|
NM_004168.4(SDHA):c.-28_-20dup
|
|
|
NM_004168.4(SDHA):c.1260+23dup
|
|
|
NM_004168.4(SDHA):c.1432+20G>C
|
rs200127852
|
|
NM_004168.4(SDHA):c.1433-3del
|
rs2126602411
|
|
NM_004168.4(SDHA):c.1433-8del
|
|
|
NM_004168.4(SDHA):c.1433-8dup
|
rs769594966
|
|
NM_004168.4(SDHA):c.150+17dup
|
rs1734837730
|
|
NM_004168.4(SDHA):c.1664-11del
|
rs1561010692
|
|
NM_004168.4(SDHA):c.457-12del
|
rs2126549133
|
|
NM_004168.4(SDHA):c.771-11A>G
|
rs2288461
|
|
NM_004168.4(SDHA):c.896-5del
|
rs751123858
|
|
NM_004181.5(UCHL1):c.-16C>T
|
rs9321
|
|
NM_004181.5(UCHL1):c.326-4dup
|
rs3214812
|
|
NM_004183.4(BEST1):c.868-99G>T
|
rs195158
|
|
NM_004204.5(PIGQ):c.1069+22del
|
|
|
NM_004204.5(PIGQ):c.1224-63C>T
|
rs59476302
|
|
NM_004204.5(PIGQ):c.1461C>G (p.Leu487=)
|
rs1045274
|
|
NM_004204.5(PIGQ):c.942+92A>C
|
rs2071980
|
|
NM_004287.5(GOSR2):c.*1711G>A
|
rs11657819
|
|
NM_004287.5(GOSR2):c.-12G>C
|
rs183199
|
|
NM_004287.5(GOSR2):c.-30G>C
|
rs189899
|
|
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu)
|
rs199930484
|
|
NM_004287.5(GOSR2):c.437A>G (p.Asn146Ser)
|
|
|
NM_004287.5(GOSR2):c.477+19del
|
rs755765859
|
|
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)
|
rs12944167
|
|
NM_004287.5(GOSR2):c.95-17T>C
|
rs553054493
|
|
NM_004380.3(CREBBP):c.1095T>C (p.His365=)
|
rs565069106
|
|
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
|
|
|
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
|
|
|
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
|
|
|
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
|
|
|
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
|
|
|
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
|
|
|
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)
|
|
|
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
|
|
|
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
|
|
|
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
|
|
|
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
|
|
|
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
|
|
|
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
|
|
|
NM_004380.3(CREBBP):c.1941+18G>A
|
|
|
NM_004380.3(CREBBP):c.1942-17A>G
|
|
|
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
|
|
|
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
|
|
|
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser)
|
rs531539047
|
|
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
|
|
|
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
|
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
|
|
|
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)
|
rs750178517
|
|
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
|
|
|
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)
|
rs770952413
|
|
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
|
|
|
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
|
|
|
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
|
|
|
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
|
|
|
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
|
|
|
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
|
|
|
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
|
|
|
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
|
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
|
|
|
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
|
|
|
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
|
|
|
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
|
|
|
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
|
|
|
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser)
|
rs886042430
|
|
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
|
|
|
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
|
|
|
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
|
|
|
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
|
|
|
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
|
|
|
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
|
|
|
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
|
|
|
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)
|
rs555109138
|
|
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
|
|
|
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
|
|
|
NM_004380.3(CREBBP):c.3370-16dup
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3370-5_3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
|
|
|
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
|
|
|
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
|
|
|
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
|
|
|
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
|
|
|
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
|
|
|
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
|
|
|
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
|
|
|
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
|
|
|
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
|
|
|
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
|
|
|
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
|
|
|
NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
|
|
|
NM_004380.3(CREBBP):c.4728+8C>T
|
|
|
NM_004380.3(CREBBP):c.4729-14G>A
|
rs130008
|
|
NM_004380.3(CREBBP):c.4729-14G>C
|
rs130008
|
|
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
|
|
|
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
|
|
|
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
|
|
|
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
|
|
|
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
|
|
|
NM_004380.3(CREBBP):c.4890+16G>A
|
|
|
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
|
|
|
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
|
|
|
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
|
|
|
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
|
|
|
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
|
|
|
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
|
|
|
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
|
|
|
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
|
|
|
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
|
|
|
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
|
|
|
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
|
|
|
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
|
|
|
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
|
|
|
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)
|
rs765600316
|
|
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
|
|
|
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
|
|
|
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
|
|
|
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
|
|
|
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
|
|
|
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
|
|
|
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
|
|
|
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
|
|
|
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
|
|
|
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
|
|
|
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
|
|
|
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met)
|
rs147448293
|
|
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
|
|
|
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6693C>T (p.Phe2231=)
|
|
|
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
|
|
|
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
|
|
|
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
|
|
|
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
|
|
|
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
|
|
|
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
|
|
|
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
|
|
|
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
|
|
|
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
|
|
|
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
|
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
|
|
|
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
|
|
|
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
|
|
|
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
|
|
|
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
|
|
|
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
|
|
|
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
|
|
|
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)
|
rs142403441
|
|
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
|
|
|
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
|
|
|
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
|
|
|
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_004408.4(DNM1):c.1047T>G (p.Asp349Glu)
|
rs1247861339
|
|
NM_004408.4(DNM1):c.1123G>A (p.Val375Ile)
|
rs2131174031
|
|
NM_004408.4(DNM1):c.1128+4G>A
|
rs768339660
|
|
NM_004408.4(DNM1):c.1129-9del
|
rs2131174977
|
|
NM_004408.4(DNM1):c.1336-7T>A
|
rs550764968
|
|
NM_004408.4(DNM1):c.1375A>G (p.Ile459Val)
|
rs2131227049
|
|
NM_004408.4(DNM1):c.1427T>C (p.Met476Thr)
|
rs2131251361
|
|
NM_004408.4(DNM1):c.1493+14del
|
rs371426966
|
|
NM_004408.4(DNM1):c.2076+23del
|
rs1237872802
|
|
NM_004408.4(DNM1):c.2156C>G (p.Ala719Gly)
|
rs1432815882
|
|
NM_004408.4(DNM1):c.2467C>G (p.Pro823Ala)
|
rs2131299716
|
|
NM_004408.4(DNM1):c.2467C>T (p.Pro823Ser)
|
rs2131299716
|
|
NM_004408.4(DNM1):c.2582C>G (p.Pro861Arg)
|
rs187315526
|
|
NM_004408.4(DNM1):c.6C>T (p.Gly2=)
|
rs1833612492
|
|
NM_004408.4(DNM1):c.825C>G (p.Pro275=)
|
rs1588357060
|
|
NM_004408.4(DNM1):c.84C>T (p.Asp28=)
|
|
|
NM_004408.4(DNM1):c.992+13C>T
|
|
|
NM_004446.3(EPRS1):c.1951-18dup
|
rs5781162
|
|
NM_004483.5(GCSH):c.293-16dup
|
rs202181338
|
|
NM_004519.4(KCNQ3):c.*4036G>A
|
rs189307949
|
|
NM_004519.4(KCNQ3):c.*4243A>T
|
rs2436131
|
|
NM_004519.4(KCNQ3):c.*4746_*4747insACAG
|
rs112550767
|
|
NM_004519.4(KCNQ3):c.*4947G>A
|
rs140565364
|
|
NM_004519.4(KCNQ3):c.*4947G>T
|
rs140565364
|
|
NM_004519.4(KCNQ3):c.*4982del
|
rs35772668
|
|
NM_004519.4(KCNQ3):c.*717CA[18]
|
rs35230760
|
|
NM_004519.4(KCNQ3):c.-142G>T
|
rs28606540
|
|
NM_004519.4(KCNQ3):c.1141-18del
|
rs2130109811
|
|
NM_004519.4(KCNQ3):c.1236-20dup
|
rs754643102
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004519.4(KCNQ3):c.1884+11del
|
rs749463018
|
|
NM_004519.4(KCNQ3):c.1885-5dup
|
rs769845388
|
|
NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg)
|
rs554833870
|
|
NM_004519.4(KCNQ3):c.213C>T (p.Gly71=)
|
rs551914862
|
|
NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=)
|
rs555827251
|
|
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu)
|
rs1801582
|
|
NM_004562.3(PRKN):c.172-38dup
|
rs751742289
|
|
NM_004565.3(PEX14):c.299-8G>T
|
rs112851814
|
|
NM_004586.3(RPS6KA3):c.1000-10del
|
rs748680802
|
|
NM_004586.3(RPS6KA3):c.1000-19dup
|
rs748680802
|
|
NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)
|
|
|
NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)
|
|
|
NM_004586.3(RPS6KA3):c.1103-10C>T
|
|
|
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
|
|
|
NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)
|
|
|
NM_004586.3(RPS6KA3):c.126+13T>C
|
|
|
NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)
|
|
|
NM_004586.3(RPS6KA3):c.1353+13dup
|
rs766402947
|
|
NM_004586.3(RPS6KA3):c.1353+5A>T
|
|
|
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
|
|
|
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
|
|
|
NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)
|
|
|
NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)
|
|
|
NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)
|
|
|
NM_004586.3(RPS6KA3):c.1842-7A>G
|
|
|
NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)
|
|
|
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
|
|
|
NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)
|
|
|
NM_004586.3(RPS6KA3):c.406+12C>A
|
|
|
NM_004586.3(RPS6KA3):c.406+13C>T
|
|
|
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
|
|
|
NM_004586.3(RPS6KA3):c.593+16A>G
|
|
|
NM_004586.3(RPS6KA3):c.594-10dup
|
rs755566588
|
|
NM_004586.3(RPS6KA3):c.618C>T (p.His206=)
|
|
|
NM_004586.3(RPS6KA3):c.631+12del
|
|
|
NM_004586.3(RPS6KA3):c.631+12dup
|
rs751517771
|
|
NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
|
|
|
NM_004586.3(RPS6KA3):c.70-20G>A
|
|
|
NM_004586.3(RPS6KA3):c.845+10C>T
|
|
|
NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)
|
|
|
NM_004615.3(TSPAN7):c.-33_-31CCG[6]
|
rs398124180
|
|
NM_004711.5(SYNGR1):c.607_608insACA (p.Pro202_Thr203insAsn)
|
rs57910921
|
|
NM_004715.5(CTDP1):c.2418-207_2418-165dup
|
rs147933855
|
|
NM_004722.4(AP4M1):c.351+19del
|
|
|
NM_004736.4(XPR1):c.1135-8dup
|
rs113553362
|
|
NM_004738.5(VAPB):c.*5612C>G
|
rs140602757
|
|
NM_004738.5(VAPB):c.-33C>G
|
rs201547974
|
|
NM_004738.5(VAPB):c.156C>T (p.Tyr52=)
|
rs749580878
|
|
NM_004738.5(VAPB):c.316-3del
|
|
|
NM_004738.5(VAPB):c.59-20G>A
|
|
|
NM_004813.4(PEX16):c.*376G>C
|
rs143868125
|
|
NM_004813.4(PEX16):c.346= (p.Val116=)
|
|
|
NM_004813.4(PEX16):c.359+13del
|
rs775047767
|
|
NM_004813.4(PEX16):c.888-3dup
|
rs2134686844
|
|
NM_004813.4(PEX16):c.952+20_952+21del
|
rs541010446
|
|
NM_004960.3(FUS):c.*3230A>G
|
rs550798081
|
|
NM_004960.4(FUS):c.1292+22dup
|
rs572228309
|
|
NM_004960.4(FUS):c.144A>G (p.Ser48=)
|
|
|
NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)
|
|
|
NM_004960.4(FUS):c.336-19_336-16del
|
rs755482297
|
|
NM_004960.4(FUS):c.518_523del
|
|
|
NM_004960.4(FUS):c.524-13dup
|
rs755045476
|
|
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup)
|
rs72550890
|
|
NM_004960.4(FUS):c.702C>T (p.Arg234=)
|
rs149785330
|
|
NM_004974.4(KCNA2):c.1185G>A (p.Ala395=)
|
rs78349687
|
|
NM_004974.4(KCNA2):c.1185G>C (p.Ala395=)
|
rs78349687
|
|
NM_004975.4(KCNB1):c.101G>A (p.Arg34His)
|
rs2122803857
|
|
NM_004975.4(KCNB1):c.1410G>T (p.Glu470Asp)
|
|
|
NM_004975.4(KCNB1):c.1449G>T (p.Leu483Phe)
|
|
|
NM_004975.4(KCNB1):c.1544C>T (p.Ala515Val)
|
rs1159101104
|
|
NM_004975.4(KCNB1):c.1565A>T (p.Gln522Leu)
|
|
|
NM_004975.4(KCNB1):c.1705G>C (p.Val569Leu)
|
|
|
NM_004975.4(KCNB1):c.1723C>G (p.Arg575Gly)
|
rs947355756
|
|
NM_004975.4(KCNB1):c.1841G>A (p.Ser614Asn)
|
|
|
NM_004975.4(KCNB1):c.1847C>T (p.Thr616Ile)
|
rs2229006
|
|
NM_004975.4(KCNB1):c.1850G>A (p.Gly617Glu)
|
|
|
NM_004975.4(KCNB1):c.1853G>A (p.Gly618Asp)
|
|
|
NM_004975.4(KCNB1):c.1853G>T (p.Gly618Val)
|
rs771932289
|
|
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln)
|
rs754927664
|
|
NM_004975.4(KCNB1):c.1880G>T (p.Arg627Leu)
|
rs754927664
|
|
NM_004975.4(KCNB1):c.1935T>C (p.Asp645=)
|
|
|
NM_004975.4(KCNB1):c.1981A>G (p.Met661Val)
|
rs1392516083
|
|
NM_004975.4(KCNB1):c.2051T>A (p.Leu684His)
|
|
|
NM_004975.4(KCNB1):c.2105C>A (p.Ala702Glu)
|
rs144379782
|
|
NM_004975.4(KCNB1):c.2107G>T (p.Ala703Ser)
|
|
|
NM_004975.4(KCNB1):c.2206C>T (p.Arg736Trp)
|
rs754428005
|
|
NM_004975.4(KCNB1):c.2252G>T (p.Gly751Val)
|
rs1451585001
|
|
NM_004975.4(KCNB1):c.2272G>A (p.Ala758Thr)
|
rs774577428
|
|
NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser)
|
rs774577428
|
|
NM_004975.4(KCNB1):c.2306G>A (p.Ser769Asn)
|
rs1209493320
|
|
NM_004975.4(KCNB1):c.2363C>T (p.Thr788Met)
|
rs140932985
|
|
NM_004975.4(KCNB1):c.239A>G (p.Asp80Gly)
|
|
|
NM_004975.4(KCNB1):c.2417C>T (p.Pro806Leu)
|
rs1249019020
|
|
NM_004975.4(KCNB1):c.2455G>A (p.Ala819Thr)
|
rs373423740
|
|
NM_004975.4(KCNB1):c.2468A>G (p.Lys823Arg)
|
rs2146811699
|
|
NM_004975.4(KCNB1):c.2512T>C (p.Ser838Pro)
|
rs1984172893
|
|
NM_004975.4(KCNB1):c.2515C>T (p.Pro839Ser)
|
rs1984172647
|
|
NM_004975.4(KCNB1):c.2572A>G (p.Ile858Val)
|
|
|
NM_004975.4(KCNB1):c.28T>C (p.Ser10Pro)
|
|
|
NM_004975.4(KCNB1):c.5C>G (p.Pro2Arg)
|
rs1279418021
|
|
NM_004975.4(KCNB1):c.661G>A (p.Gly221Ser)
|
rs1984274983
|
|
NM_004975.4(KCNB1):c.78C>T (p.Ser26=)
|
rs1194383095
|
|
NM_004975.4(KCNB1):c.82G>A (p.Ala28Thr)
|
|
|
NM_004977.3(KCNC3):c.2170+14C>T
|
rs189018316
|
|
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=)
|
rs75907338
|
|
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)
|
rs193922928
|
|
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_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly)
|
rs55656324
|
|
NM_005045.4(RELN):c.10266T>C (p.His3422=)
|
|
|
NM_005045.4(RELN):c.1143+15dup
|
rs758452731
|
|
NM_005045.4(RELN):c.1290-12dup
|
|
|
NM_005045.4(RELN):c.1290-3del
|
rs146986040
|
|
NM_005045.4(RELN):c.1290-3dup
|
rs146986040
|
|
NM_005045.4(RELN):c.1515G>A (p.Glu505=)
|
|
|
NM_005045.4(RELN):c.1789C>T (p.His597Tyr)
|
rs779014769
|
|
NM_005045.4(RELN):c.1791T>G (p.His597Gln)
|
|
|
NM_005045.4(RELN):c.1806C>T (p.Ser602=)
|
|
|
NM_005045.4(RELN):c.2003-12dup
|
rs768288120
|
|
NM_005045.4(RELN):c.2124A>C (p.Pro708=)
|
|
|
NM_005045.4(RELN):c.227-17del
|
rs561211301
|
|
NM_005045.4(RELN):c.227-26dup
|
rs561211301
|
|
NM_005045.4(RELN):c.2370G>A (p.Gln790=)
|
|
|
NM_005045.4(RELN):c.2466-7del
|
rs571882672
|
|
NM_005045.4(RELN):c.2466-7dup
|
rs571882672
|
|
NM_005045.4(RELN):c.2466-8_2466-7del
|
|
|
NM_005045.4(RELN):c.2643G>A (p.Gln881=)
|
|
|
NM_005045.4(RELN):c.2907A>G (p.Pro969=)
|
rs780891394
|
|
NM_005045.4(RELN):c.2989C>T (p.Leu997Phe)
|
rs362691
|
|
NM_005045.4(RELN):c.2992C>G (p.Leu998Val)
|
rs201003473
|
|
NM_005045.4(RELN):c.3099C>T (p.Cys1033=)
|
|
|
NM_005045.4(RELN):c.3708T>G (p.Pro1236=)
|
|
|
NM_005045.4(RELN):c.3829A>G (p.Met1277Val)
|
rs555946635
|
|
NM_005045.4(RELN):c.4005A>G (p.Lys1335=)
|
rs1242460681
|
|
NM_005045.4(RELN):c.4368G>A (p.Gly1456=)
|
|
|
NM_005045.4(RELN):c.4589-15T>C
|
|
|
NM_005045.4(RELN):c.4589-8dup
|
rs751121994
|
|
NM_005045.4(RELN):c.4833T>C (p.Asp1611=)
|
|
|
NM_005045.4(RELN):c.4854C>T (p.Ala1618=)
|
|
|
NM_005045.4(RELN):c.4937-4del
|
rs35268159
|
|
NM_005045.4(RELN):c.4937-4dup
|
rs35268159
|
|
NM_005045.4(RELN):c.4937-5_4937-4dup
|
rs35268159
|
|
NM_005045.4(RELN):c.5151C>T (p.Tyr1717=)
|
|
|
NM_005045.4(RELN):c.5211-10_5211-7del
|
rs34125550
|
|
NM_005045.4(RELN):c.5211-7del
|
rs34125550
|
|
NM_005045.4(RELN):c.5827G>C (p.Asp1943His)
|
|
|
NM_005045.4(RELN):c.6073-14del
|
|
|
NM_005045.4(RELN):c.6541A>C (p.Arg2181=)
|
|
|
NM_005045.4(RELN):c.7059C>T (p.Ala2353=)
|
|
|
NM_005045.4(RELN):c.7110_7111inv (p.Ala2371Thr)
|
|
|
NM_005045.4(RELN):c.7189T>C (p.Leu2397=)
|
|
|
NM_005045.4(RELN):c.7490+16dup
|
rs761790873
|
|
NM_005045.4(RELN):c.7590C>T (p.Asn2530=)
|
|
|
NM_005045.4(RELN):c.7821C>T (p.Asn2607=)
|
|
|
NM_005045.4(RELN):c.805+13dup
|
|
|
NM_005045.4(RELN):c.8061A>G (p.Ala2687=)
|
|
|
NM_005045.4(RELN):c.8120-9dup
|
|
|
NM_005045.4(RELN):c.8205T>C (p.His2735=)
|
|
|
NM_005045.4(RELN):c.8799T>C (p.Thr2933=)
|
|
|
NM_005045.4(RELN):c.8922C>T (p.Gly2974=)
|
rs544687307
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
NM_005045.4(RELN):c.9370-13_9370-8del
|
rs141397961
|
|
NM_005045.4(RELN):c.9444-10G>T
|
rs575743816
|
|
NM_005045.4(RELN):c.9444-12dup
|
|
|
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser)
|
rs73714410
|
|
NM_005051.3(QARS1):c.118-12del
|
|
|
NM_005051.3(QARS1):c.1870G>C (p.Glu624Gln)
|
rs544950843
|
|
NM_005051.3(QARS1):c.1957-14dup
|
rs1553751493
|
|
NM_005051.3(QARS1):c.1957-48G>C
|
rs13064784
|
|
NM_005051.3(QARS1):c.790-10del
|
rs748134575
|
|
NM_005076.5(CNTN2):c.1969C>T (p.Arg657Trp)
|
rs2305276
|
|
NM_005076.5(CNTN2):c.2196+42C>T
|
rs2305275
|
|
NM_005076.5(CNTN2):c.2886C>T (p.His962=)
|
rs56111335
|
|
NM_005076.5(CNTN2):c.487+18del
|
|
|
NM_005076.5(CNTN2):c.697+18G>T
|
rs872379
|
|
NM_005076.5(CNTN2):c.797+16dup
|
rs5780262
|
|
NM_005097.4(LGI1):c.287+19A>G
|
|
|
NM_005097.4(LGI1):c.432-5dup
|
rs61662431
|
|
NM_005097.4(LGI1):c.432-6_432-5dup
|
rs61662431
|
|
NM_005120.3(MED12):c.1011A>C (p.Pro337=)
|
|
|
NM_005120.3(MED12):c.1101+14G>A
|
|
|
NM_005120.3(MED12):c.1113G>A (p.Leu371=)
|
rs780470012
|
|
NM_005120.3(MED12):c.1203G>A (p.Pro401=)
|
rs368546216
|
|
NM_005120.3(MED12):c.1265G>A (p.Arg422Gln)
|
|
|
NM_005120.3(MED12):c.1281G>A (p.Gln427=)
|
|
|
NM_005120.3(MED12):c.1485+6C>T
|
rs565198403
|
|
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr)
|
rs370812643
|
|
NM_005120.3(MED12):c.171C>T (p.Gly57=)
|
|
|
NM_005120.3(MED12):c.204+12_204+13del
|
rs200301833
|
|
NM_005120.3(MED12):c.2271G>A (p.Leu757=)
|
rs756091104
|
|
NM_005120.3(MED12):c.2372-9C>T
|
|
|
NM_005120.3(MED12):c.2423-6C>T
|
|
|
NM_005120.3(MED12):c.2568C>T (p.Ile856=)
|
|
|
NM_005120.3(MED12):c.2685+20G>A
|
|
|
NM_005120.3(MED12):c.2727C>T (p.Leu909=)
|
|
|
NM_005120.3(MED12):c.2778C>T (p.Ile926=)
|
|
|
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
|
|
|
NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)
|
|
|
NM_005120.3(MED12):c.3355-11T>C
|
|
|
NM_005120.3(MED12):c.3355-14G>T
|
|
|
NM_005120.3(MED12):c.3355-8dup
|
rs750373111
|
|
NM_005120.3(MED12):c.3426C>T (p.Leu1142=)
|
|
|
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
|
|
|
NM_005120.3(MED12):c.3567G>T (p.Gln1189His)
|
rs2147804945
|
|
NM_005120.3(MED12):c.3691+9dup
|
rs966516434
|
|
NM_005120.3(MED12):c.369C>T (p.Thr123=)
|
rs769484204
|
|
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala)
|
|
|
NM_005120.3(MED12):c.3795C>T (p.Gly1265=)
|
|
|
NM_005120.3(MED12):c.3990G>C (p.Leu1330=)
|
|
|
NM_005120.3(MED12):c.4416-77CTCTT[14]
|
rs56658066
|
|
NM_005120.3(MED12):c.4449G>A (p.Ser1483=)
|
|
|
NM_005120.3(MED12):c.4527+18A>G
|
|
|
NM_005120.3(MED12):c.4566T>C (p.Asp1522=)
|
|
|
NM_005120.3(MED12):c.4727+17C>T
|
|
|
NM_005120.3(MED12):c.4806G>A (p.Ser1602=)
|
rs755218771
|
|
NM_005120.3(MED12):c.5025+20C>T
|
|
|
NM_005120.3(MED12):c.5175C>T (p.Leu1725=)
|
|
|
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg)
|
rs1295791827
|
|
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
|
|
|
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
|
|
|
NM_005120.3(MED12):c.5511C>T (p.Gly1837=)
|
|
|
NM_005120.3(MED12):c.5749-11del
|
rs2147830057
|
|
NM_005120.3(MED12):c.5749-15C>T
|
|
|
NM_005120.3(MED12):c.5827-15C>T
|
|
|
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
|
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.6060A>T (p.Thr2020=)
|
|
|
NM_005120.3(MED12):c.6075C>A (p.Pro2025=)
|
|
|
NM_005120.3(MED12):c.6128G>A (p.Arg2043His)
|
|
|
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del)
|
|
|
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
NM_005120.3(MED12):c.6408+22del
|
|
|
NM_005120.3(MED12):c.6411C>T (p.Phe2137=)
|
|
|
NM_005120.3(MED12):c.6426T>G (p.Leu2142=)
|
|
|
NM_005120.3(MED12):c.6491-20T>C
|
|
|
NM_005120.3(MED12):c.751A>C (p.Arg251=)
|
|
|
NM_005120.3(MED12):c.796C>T (p.Arg266Cys)
|
|
|
NM_005120.3(MED12):c.846+6dup
|
|
|
NM_005120.3(MED12):c.954T>C (p.His318=)
|
|
|
NM_005120.3(MED12):c.958A>G (p.Ile320Val)
|
rs781192327
|
|
NM_005120.3(MED12):c.958A>T (p.Ile320Leu)
|
|
|
NM_005149.3(TBX19):c.*922GAAA[5]
|
rs67726248
|
|
NM_005149.3(TBX19):c.603+10_603+11insTTGT
|
rs72294615
|
|
NM_005154.5(USP8):c.1052C>T (p.Thr351Met)
|
|
|
NM_005154.5(USP8):c.1296= (p.Gln432=)
|
|
|
NM_005154.5(USP8):c.249+21_249+23del
|
rs776173241
|
|
NM_005154.5(USP8):c.3172-16_3172-13dup
|
rs200945863
|
|
NM_005186.4(CAPN1):c.1942+77C>T
|
rs625750
|
|
NM_005186.4(CAPN1):c.843+114del
|
rs3832790
|
|
NM_005211.4(CSF1R):c.-230GAAGAG[3]
|
rs796927717
|
|
NM_005235.3(ERBB4):c.1947-28dup
|
rs57466272
|
|
NM_005235.3(ERBB4):c.884-7del
|
rs67894136
|
|
NM_005249.5(FOXG1):c.1003C>T (p.Pro335Ser)
|
|
|
NM_005249.5(FOXG1):c.1029C>T (p.Ser343=)
|
|
|
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=)
|
rs570981209
|
|
NM_005249.5(FOXG1):c.115C>T (p.His39Tyr)
|
|
|
NM_005249.5(FOXG1):c.1219G>C (p.Val407Leu)
|
rs1287203413
|
|
NM_005249.5(FOXG1):c.1221C>T (p.Val407=)
|
|
|
NM_005249.5(FOXG1):c.1255C>T (p.Pro419Ser)
|
rs2138662170
|
|
NM_005249.5(FOXG1):c.1381C>G (p.Pro461Ala)
|
rs1881826897
|
|
NM_005249.5(FOXG1):c.1390A>G (p.Thr464Ala)
|
rs1268719113
|
|
NM_005249.5(FOXG1):c.141CCA[6] (p.His57del)
|
rs587783630
|
|
NM_005249.5(FOXG1):c.187C>T (p.Pro63Ser)
|
rs1288532385
|
|
NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup)
|
rs761703699
|
|
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)
|
rs398124201
|
|
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del)
|
rs794726920
|
|
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)
|
rs587783634
|
|
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup)
|
rs587783634
|
|
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)
|
rs786200975
|
|
NM_005249.5(FOXG1):c.241G>A (p.Ala81Thr)
|
rs1240859292
|
|
NM_005249.5(FOXG1):c.256C>G (p.Gln86Glu)
|
rs398124202
|
|
NM_005249.5(FOXG1):c.263G>C (p.Arg88Pro)
|
|
|
NM_005249.5(FOXG1):c.268G>T (p.Ala90Ser)
|
rs906816341
|
|
NM_005249.5(FOXG1):c.310C>G (p.Leu104Val)
|
|
|
NM_005249.5(FOXG1):c.322C>T (p.Pro108Ser)
|
rs1881790056
|
|
NM_005249.5(FOXG1):c.329C>A (p.Pro110Gln)
|
|
|
NM_005249.5(FOXG1):c.362C>G (p.Ala121Gly)
|
rs2138660693
|
|
NM_005249.5(FOXG1):c.443G>C (p.Gly148Ala)
|
|
|
NM_005249.5(FOXG1):c.453C>G (p.Ala151=)
|
|
|
NM_005249.5(FOXG1):c.454G>T (p.Gly152Trp)
|
|
|
NM_005249.5(FOXG1):c.475G>A (p.Ala159Thr)
|
|
|
NM_005249.5(FOXG1):c.672C>G (p.Gly224=)
|
rs587783639
|
|
NM_005249.5(FOXG1):c.933G>A (p.Ser311=)
|
|
|
NM_005249.5(FOXG1):c.977G>A (p.Ser326Asn)
|
rs748001255
|
|
NM_005249.5(FOXG1):c.991A>G (p.Thr331Ala)
|
|
|
NM_005334.3(HCFC1):c.1084+17C>T
|
|
|
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
|
|
|
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
|
|
|
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
|
|
|
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
|
|
|
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
|
|
|
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
|
|
|
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
|
|
|
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
|
|
|
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
|
|
|
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
|
|
|
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
|
|
|
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
|
|
|
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
|
|
|
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
|
|
|
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
|
|
|
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
|
|
|
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
|
|
|
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
|
|
|
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
|
|
|
NM_005334.3(HCFC1):c.2028+18C>T
|
|
|
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
|
|
|
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
|
|
|
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
|
|
|
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
|
|
|
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
|
|
|
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
|
|
|
NM_005334.3(HCFC1):c.2496+18G>A
|
|
|
NM_005334.3(HCFC1):c.2497-9G>T
|
|
|
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
|
|
|
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
|
|
|
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
|
|
|
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
|
|
|
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=)
|
rs782757775
|
|
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
|
|
|
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
|
|
|
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
|
|
|
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
|
|
|
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
|
|
|
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
|
|
|
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
|
|
|
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
|
|
|
NM_005334.3(HCFC1):c.2857-14G>C
|
|
|
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
|
|
|
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
|
|
|
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
|
|
|
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
|
|
|
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
|
|
|
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=)
|
rs782300483
|
|
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
|
|
|
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
|
|
|
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
|
|
|
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
|
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
|
|
|
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
|
|
|
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
|
|
|
NM_005334.3(HCFC1):c.342+11C>T
|
|
|
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
|
|
|
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
|
|
|
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
|
|
|
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
|
|
|
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
|
|
|
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
|
|
|
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
|
|
|
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
|
|
|
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
|
|
|
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
|
|
|
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
|
|
|
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
|
|
|
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
|
|
|
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
|
|
|
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
|
|
|
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
|
|
|
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
|
|
|
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
|
|
|
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
|
|
|
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
|
|
|
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
|
|
|
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
|
|
|
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
|
|
|
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
|
|
|
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
|
|
|
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
|
|
|
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
|
|
|
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
|
|
|
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=)
|
rs782136932
|
|
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
|
|
|
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
|
|
|
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
|
|
|
NM_005334.3(HCFC1):c.4334-10G>A
|
|
|
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
|
|
|
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
|
|
|
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
|
|
|
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
|
|
|
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
|
|
|
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
|
|
|
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
|
|
|
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
|
|
|
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
|
|
|
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
|
|
|
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
|
|
|
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
|
|
|
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
|
|
|
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
|
|
|
NM_005334.3(HCFC1):c.4498-7C>T
|
|
|
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
|
|
|
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
|
|
|
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
|
|
|
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
|
|
|
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
|
|
|
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
|
|
|
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
|
|
|
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
|
|
|
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
|
|
|
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
|
|
|
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
|
|
|
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
|
|
|
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
|
|
|
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
|
|
|
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
|
|
|
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
|
|
|
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
|
|
|
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
|
|
|
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
|
|
|
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
|
|
|
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
|
|
|
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
|
|
|
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
|
|
|
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
|
|
|
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
|
|
|
NM_005334.3(HCFC1):c.5260+16C>T
|
|
|
NM_005334.3(HCFC1):c.5261-5C>T
|
|
|
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
|
|
|
NM_005334.3(HCFC1):c.5380-20G>A
|
|
|
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del)
|
rs782769309
|
|
NM_005334.3(HCFC1):c.5517+20G>C
|
|
|
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
|
|
|
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
|
|
|
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
|
|
|
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
|
|
|
NM_005334.3(HCFC1):c.5703+18del
|
|
|
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
|
|
|
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
|
|
|
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
|
|
|
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
|
|
|
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
|
|
|
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
|
|
|
NM_005334.3(HCFC1):c.6004+14G>T
|
|
|
NM_005334.3(HCFC1):c.6005-12C>G
|
rs181583112
|
|
NM_005334.3(HCFC1):c.6005-12C>T
|
rs181583112
|
|
NM_005334.3(HCFC1):c.6068+20C>T
|
|
|
NM_005334.3(HCFC1):c.6069-20T>C
|
|
|
NM_005334.3(HCFC1):c.6069-8C>T
|
|
|
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
|
|
|
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
|
|
|
NM_005334.3(HCFC1):c.713-12G>A
|
|
|
NM_005334.3(HCFC1):c.713-18C>T
|
|
|
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
|
|
|
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
|
|
|
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
|
|
|
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
|
|
|
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
|
|
|
NM_005359.6(SMAD4):c.*1864C>A
|
rs561442548
|
|
NM_005359.6(SMAD4):c.*1866A>G
|
rs4940037
|
|
NM_005359.6(SMAD4):c.*5631AC[3]
|
rs368759758
|
|
NM_005359.6(SMAD4):c.*5691_*5693del
|
rs374306389
|
|
NM_005359.6(SMAD4):c.*5863_*5867del
|
rs78989198
|
|
NM_005359.6(SMAD4):c.*5994A>C
|
rs3819122
|
|
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_005591.4(MRE11):c.1098+17T>C
|
rs1805365
|
|
NM_005591.4(MRE11):c.154-12dup
|
|
|
NM_005591.4(MRE11):c.1563+13C>T
|
|
|
NM_005591.4(MRE11):c.315-14dup
|
rs35062043
|
|
NM_005591.4(MRE11):c.315-4del
|
rs35062043
|
|
NM_005591.4(MRE11):c.315-5_315-4dup
|
rs35062043
|
|
NM_005591.4(MRE11):c.402+14del
|
|
|
NM_005591.4(MRE11):c.659+11del
|
|
|
NM_005619.5(RTN2):c.-170GGC[16]
|
rs3038807
|
|
NM_005629.4(SLC6A8):c.1027A>G (p.Ile343Val)
|
rs2148363171
|
|
NM_005629.4(SLC6A8):c.1141+37G>A
|
|
|
NM_005629.4(SLC6A8):c.1254+18G>A
|
|
|
NM_005629.4(SLC6A8):c.1392+17G>A
|
rs782120123
|
|
NM_005629.4(SLC6A8):c.1392+17dup
|
rs781964988
|
|
NM_005629.4(SLC6A8):c.1393-3del
|
|
|
NM_005629.4(SLC6A8):c.1419T>C (p.Phe473=)
|
|
|
NM_005629.4(SLC6A8):c.1596+11G>A
|
rs782481342
|
|
NM_005629.4(SLC6A8):c.1596+14dup
|
|
|
NM_005629.4(SLC6A8):c.1596+24_1597-41dup
|
rs782797794
|
|
NM_005629.4(SLC6A8):c.1627G>C (p.Glu543Gln)
|
rs782028471
|
|
NM_005629.4(SLC6A8):c.1692C>G (p.Phe564Leu)
|
rs201044530
|
|
NM_005629.4(SLC6A8):c.1692C>T (p.Phe564=)
|
rs201044530
|
|
NM_005629.4(SLC6A8):c.1767+11C>T
|
rs782709232
|
|
NM_005629.4(SLC6A8):c.1767+8_1767+11dup
|
rs1185206859
|
|
NM_005629.4(SLC6A8):c.1861C>T (p.Pro621Ser)
|
rs782388832
|
|
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala)
|
rs1236176576
|
|
NM_005629.4(SLC6A8):c.497C>T (p.Thr166Met)
|
rs1479462836
|
|
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
|
|
|
NM_005629.4(SLC6A8):c.61C>T (p.Pro21Ser)
|
|
|
NM_005629.4(SLC6A8):c.645-17C>T
|
|
|
NM_005629.4(SLC6A8):c.74C>T (p.Pro25Leu)
|
|
|
NM_005629.4(SLC6A8):c.76G>C (p.Gly26Arg)
|
|
|
NM_005629.4(SLC6A8):c.778-3dup
|
|
|
NM_005629.4(SLC6A8):c.778-8C>G
|
rs781860529
|
|
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=)
|
rs782373793
|
|
NM_005629.4(SLC6A8):c.912+19G>A
|
rs782518872
|
|
NM_005629.4(SLC6A8):c.913-19C>T
|
rs782810502
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|
NM_005645.4(TAF13):c.-2G>A
|
|
|
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)
|
rs374338349
|
|
NM_005670.4(EPM2A):c.719-8del
|
|
|
NM_005670.4(EPM2A):c.903G>C (p.Pro301=)
|
rs141361861
|
|
NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
|
|
|
NM_005765.3(ATP6AP2):c.534+10G>C
|
rs758140053
|
|
NM_005883.3(APC2):c.4384A>C (p.Arg1462=)
|
rs265273
|
|
NM_005993.5(TBCD):c.2038+41C>G
|
rs12601746
|
|
NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup)
|
rs587779737
|
|
NM_006015.6(ARID1A):c.2252-97A>T
|
rs113319329
|
|
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup)
|
rs374564889
|
|
NM_006015.6(ARID1A):c.4994-20G>C
|
rs113553273
|
|
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del)
|
rs753766136
|
|
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)
|
rs41303631
|
|
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu)
|
rs764060744
|
|
NM_006030.4(CACNA2D2):c.1261-5C>A
|
rs201656322
|
|
NM_006030.4(CACNA2D2):c.1261-5dup
|
|
|
NM_006030.4(CACNA2D2):c.1552-17del
|
rs745581345
|
|
NM_006030.4(CACNA2D2):c.1552-17dup
|
|
|
NM_006030.4(CACNA2D2):c.1774-19A>T
|
|
|
NM_006030.4(CACNA2D2):c.1985-14del
|
rs1260540618
|
|
NM_006030.4(CACNA2D2):c.1985-14dup
|
|
|
NM_006030.4(CACNA2D2):c.2402-14del
|
rs2109407626
|
|
NM_006030.4(CACNA2D2):c.2590-15CT[2]
|
rs773873222
|
|
NM_006030.4(CACNA2D2):c.465+11del
|
|
|
NM_006059.4(LAMC3):c.2308C>G (p.Arg770Gly)
|
rs3739510
|
|
NM_006059.4(LAMC3):c.2593+32A>G
|
rs3765569
|
|
NM_006059.4(LAMC3):c.522C>G (p.Pro174=)
|
rs2275136
|
|
NM_006059.4(LAMC3):c.855A>G (p.Ala285=)
|
rs2275132
|
|
NM_006070.6(TFG):c.185-10T>C
|
rs79631225
|
|
NM_006070.6(TFG):c.581-11dup
|
|
|
NM_006087.4(TUBB4A):c.*633C>A
|
rs74383079
|
|
NM_006087.4(TUBB4A):c.*69C>G
|
rs564748070
|
|
NM_006087.4(TUBB4A):c.57+20C>T
|
rs373088691
|
|
NM_006186.4(NR4A2):c.357G>T (p.Ser119=)
|
rs797046133
|
|
NM_006214.4(PHYH):c.*189del
|
rs3839912
|
|
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)
|
rs2233783
|
|
NM_006267.5(RANBP2):c.1756-3del
|
|
|
NM_006267.5(RANBP2):c.2340G>T (p.Pro780=)
|
|
|
NM_006267.5(RANBP2):c.2383-3dup
|
rs542446071
|
|
NM_006267.5(RANBP2):c.2467-11dup
|
rs747860271
|
|
NM_006267.5(RANBP2):c.3162_3163delinsTT (p.Gln1054_Pro1055delinsHisSer)
|
rs1553494411
|
|
NM_006267.5(RANBP2):c.5367T>G (p.Val1789=)
|
rs200692090
|
|
NM_006267.5(RANBP2):c.6612C>A (p.Ala2204=)
|
rs202005268
|
|
NM_006267.5(RANBP2):c.6612C>T (p.Ala2204=)
|
rs202005268
|
|
NM_006267.5(RANBP2):c.7474A>C (p.Thr2492Pro)
|
rs2693103
|
|
NM_006267.5(RANBP2):c.7669A>G (p.Asn2557Asp)
|
|
|
NM_006279.5(ST3GAL3):c.1038+8del
|
rs797046013
|
|
NM_006306.4(SMC1A):c.616-6G>A
|
rs587784424
|
|
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln)
|
rs150931007
|
|
NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)
|
|
|
NM_006397.3(RNASEH2A):c.549+10dup
|
|
|
NM_006397.3(RNASEH2A):c.550-9dup
|
|
|
NM_006459.4(ERLIN1):c.656-20_656-18del
|
rs548789974
|
|
NM_006493.4(CLN5):c.566-8dup
|
rs760343764
|
|
NM_006516.4(SLC2A1):c.*462G>C
|
rs4658
|
|
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)
|
rs2229681
|
|
NM_006516.4(SLC2A1):c.1278+12del
|
rs368437445
|
|
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT
|
rs2124446051
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)
|
rs2229682
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.679+7G>T
|
rs13306757
|
|
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser)
|
rs11243011
|
|
NM_006612.6(KIF1C):c.1165+12A>G
|
|
|
NM_006612.6(KIF1C):c.1179A>G (p.Glu393=)
|
|
|
NM_006612.6(KIF1C):c.1275G>A (p.Pro425=)
|
|
|
NM_006612.6(KIF1C):c.1302G>T (p.Gln434His)
|
|
|
NM_006612.6(KIF1C):c.1336-18C>T
|
|
|
NM_006612.6(KIF1C):c.15G>A (p.Ser5=)
|
|
|
NM_006612.6(KIF1C):c.1666+13G>C
|
|
|
NM_006612.6(KIF1C):c.183+20dup
|
|
|
NM_006612.6(KIF1C):c.270C>T (p.Asn90=)
|
rs535190367
|
|
NM_006612.6(KIF1C):c.2726C>A (p.Pro909Gln)
|
rs78970955
|
|
NM_006612.6(KIF1C):c.297C>T (p.Thr99=)
|
|
|
NM_006612.6(KIF1C):c.720+18C>A
|
rs201947256
|
|
NM_006612.6(KIF1C):c.720+18_720+20del
|
rs10533622
|
|
NM_006612.6(KIF1C):c.720+19C>G
|
rs757513826
|
|
NM_006612.6(KIF1C):c.720+19_720+20del
|
rs10533622
|
|
NM_006612.6(KIF1C):c.720+20del
|
rs10533622
|
|
NM_006612.6(KIF1C):c.720+20dup
|
rs10533622
|
|
NM_006612.6(KIF1C):c.768C>T (p.Asp256=)
|
|
|
NM_006612.6(KIF1C):c.990C>T (p.Ile330=)
|
|
|
NM_006618.5(KDM5B):c.2198+25dup
|
rs3216061
|
|
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=)
|
rs1141109
|
|
NM_006721.4(ADK):c.727-8del
|
rs112610475
|
|
NM_006736.6(DNAJB2):c.66-18T>C
|
|
|
NM_006765.4(TUSC3):c.309-15C>G
|
|
|
NM_006765.4(TUSC3):c.87C>T (p.Leu29=)
|
rs78626330
|
|
NM_006772.3(SYNGAP1):c.1195G>A (p.Ala399Thr)
|
|
|
NM_006772.3(SYNGAP1):c.1322T>C (p.Val441Ala)
|
|
|
NM_006772.3(SYNGAP1):c.1326A>G (p.Lys442=)
|
rs2151170276
|
|
NM_006772.3(SYNGAP1):c.1594A>C (p.Thr532Pro)
|
rs2151172479
|
|
NM_006772.3(SYNGAP1):c.1677-16C>T
|
rs572784864
|
|
NM_006772.3(SYNGAP1):c.1677-3del
|
rs1381203371
|
|
NM_006772.3(SYNGAP1):c.1677-3dup
|
rs1381203371
|
|
NM_006772.3(SYNGAP1):c.1729G>A (p.Ala577Thr)
|
|
|
NM_006772.3(SYNGAP1):c.1742G>A (p.Arg581Gln)
|
rs1761010170
|
|
NM_006772.3(SYNGAP1):c.190-12del
|
rs2151134386
|
|
NM_006772.3(SYNGAP1):c.1913+45_1913+59del
|
rs572578854
|
|
NM_006772.3(SYNGAP1):c.196C>T (p.Pro66Ser)
|
|
|
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=)
|
rs73402305
|
|
NM_006772.3(SYNGAP1):c.2014A>G (p.Thr672Ala)
|
|
|
NM_006772.3(SYNGAP1):c.2029A>T (p.Ser677Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2116-3C>T
|
rs2151183616
|
|
NM_006772.3(SYNGAP1):c.2214T>G (p.Ser738Arg)
|
rs1243545018
|
|
NM_006772.3(SYNGAP1):c.2243T>G (p.Leu748Arg)
|
rs886868218
|
|
NM_006772.3(SYNGAP1):c.2291A>G (p.Asn764Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2294+3G>A
|
|
|
NM_006772.3(SYNGAP1):c.2324G>C (p.Arg775Pro)
|
|
|
NM_006772.3(SYNGAP1):c.2350G>A (p.Ala784Thr)
|
rs768267846
|
|
NM_006772.3(SYNGAP1):c.2578G>A (p.Val860Ile)
|
rs1060503387
|
|
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile)
|
rs768878991
|
|
NM_006772.3(SYNGAP1):c.2818G>C (p.Gly940Arg)
|
|
|
NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser)
|
rs1038956173
|
|
NM_006772.3(SYNGAP1):c.2873A>C (p.His958Pro)
|
rs1465908298
|
|
NM_006772.3(SYNGAP1):c.2909A>G (p.Glu970Gly)
|
|
|
NM_006772.3(SYNGAP1):c.3020G>A (p.Ser1007Asn)
|
|
|
NM_006772.3(SYNGAP1):c.3100C>G (p.Pro1034Ala)
|
|
|
NM_006772.3(SYNGAP1):c.311G>T (p.Arg104Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3209G>A (p.Arg1070Lys)
|
rs1561789828
|
|
NM_006772.3(SYNGAP1):c.3237C>G (p.Ser1079Arg)
|
rs149779350
|
|
NM_006772.3(SYNGAP1):c.3290C>T (p.Pro1097Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3293G>A (p.Ser1098Asn)
|
rs1761118961
|
|
NM_006772.3(SYNGAP1):c.3305C>T (p.Ala1102Val)
|
|
|
NM_006772.3(SYNGAP1):c.3310C>T (p.Pro1104Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3326T>C (p.Leu1109Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3344_3352del (p.Ile1115_Gly1117del)
|
|
|
NM_006772.3(SYNGAP1):c.3404A>C (p.Lys1135Thr)
|
rs2151191254
|
|
NM_006772.3(SYNGAP1):c.3408+3A>G
|
|
|
NM_006772.3(SYNGAP1):c.3583-17G>A
|
rs768465867
|
|
NM_006772.3(SYNGAP1):c.3638A>C (p.Asn1213Thr)
|
rs761582251
|
|
NM_006772.3(SYNGAP1):c.3638A>G (p.Asn1213Ser)
|
rs761582251
|
|
NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu)
|
rs1374327029
|
|
NM_006772.3(SYNGAP1):c.3929C>T (p.Thr1310Met)
|
|
|
NM_006772.3(SYNGAP1):c.3949G>A (p.Gly1317Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3962C>A (p.Pro1321Gln)
|
rs1761348954
|
|
NM_006772.3(SYNGAP1):c.3964G>C (p.Ala1322Pro)
|
rs752321873
|
|
NM_006772.3(SYNGAP1):c.502C>T (p.His168Tyr)
|
rs1777198561
|
|
NM_006772.3(SYNGAP1):c.603T>A (p.Asp201Glu)
|
|
|
NM_006772.3(SYNGAP1):c.667A>T (p.Thr223Ser)
|
rs1435943982
|
|
NM_006772.3(SYNGAP1):c.694G>A (p.Ala232Thr)
|
rs756789403
|
|
NM_006772.3(SYNGAP1):c.707C>T (p.Ala236Val)
|
rs1166557922
|
|
NM_006772.3(SYNGAP1):c.819G>T (p.Glu273Asp)
|
rs1256016634
|
|
NM_006772.3(SYNGAP1):c.865A>G (p.Met289Val)
|
|
|
NM_006772.3(SYNGAP1):c.892C>T (p.Pro298Ser)
|
|
|
NM_006772.3(SYNGAP1):c.927C>T (p.Gly309=)
|
|
|
NM_006796.3(AFG3L2):c.*311C>T
|
rs79884272
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
NM_006796.3(AFG3L2):c.753-55T>C
|
rs7407640
|
|
NM_006922.4(SCN3A):c.127_129del (p.Asn43del)
|
rs72471101
|
|
NM_006922.4(SCN3A):c.4213G>T (p.Ala1405Ser)
|
rs768382383
|
|
NM_006946.4(SPTBN2):c.1351-7G>A
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1351-7G>T
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.309+36T>C
|
rs12805133
|
|
NM_006950.3(SYN1):c.1056-14_1056-8del
|
rs377385507
|
|
NM_006950.3(SYN1):c.144C>G (p.Thr48=)
|
|
|
NM_006950.3(SYN1):c.1821G>T (p.Ala607=)
|
|
|
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_007118.4(TRIO):c.8162C>T (p.Pro2721Leu)
|
|
|
NM_007126.5(VCP):c.1082-18_1082-8dup
|
rs11272867
|
|
NM_007254.4(PNKP):c.1029+15C>G
|
|
|
NM_007254.4(PNKP):c.1030-12del
|
rs1398388252
|
|
NM_007254.4(PNKP):c.1127-7dup
|
rs757518270
|
|
NM_007254.4(PNKP):c.1189-22_1189-19del
|
rs368832563
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1387-48del
|
rs770848795
|
|
NM_007254.4(PNKP):c.1387-48dup
|
rs770848795
|
|
NM_007254.4(PNKP):c.1387-5del
|
rs1238643725
|
|
NM_007254.4(PNKP):c.1387-5dup
|
rs1238643725
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_007254.4(PNKP):c.936+13dup
|
rs3739200
|
|
NM_007262.5(PARK7):c.193-13dup
|
rs768623509
|
|
NM_007325.5(GRIA3):c.268+16757dup
|
rs778944548
|
|
NM_007325.5(GRIA3):c.268+16762dup
|
rs11452643
|
|
NM_007325.5(GRIA3):c.384dup (p.Phe129fs)
|
rs2147282654
|
|
NM_007327.4(GRIN1):c.1075C>T (p.Arg359Cys)
|
|
|
NM_007327.4(GRIN1):c.1098C>G (p.Ile366Met)
|
rs778196924
|
|
NM_007327.4(GRIN1):c.1099T>C (p.Tyr367His)
|
rs2131279971
|
|
NM_007327.4(GRIN1):c.1168C>G (p.Arg390Gly)
|
rs927186701
|
|
NM_007327.4(GRIN1):c.1198-3del
|
rs762423431
|
|
NM_007327.4(GRIN1):c.1339+7GCGCGGGGCAGGGCGCGGG[3]
|
rs761110882
|
|
NM_007327.4(GRIN1):c.1340-17C>A
|
rs555815195
|
|
NM_007327.4(GRIN1):c.139A>T (p.Asn47Tyr)
|
rs1347150317
|
|
NM_007327.4(GRIN1):c.1458A>G (p.Thr486=)
|
|
|
NM_007327.4(GRIN1):c.1605C>T (p.Tyr535=)
|
|
|
NM_007327.4(GRIN1):c.1632+17_1632+23del
|
rs756425137
|
|
NM_007327.4(GRIN1):c.1865-13del
|
rs772767449
|
|
NM_007327.4(GRIN1):c.1894C>T (p.Leu632=)
|
|
|
NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro)
|
|
|
NM_007327.4(GRIN1):c.23C>T (p.Thr8Met)
|
|
|
NM_007327.4(GRIN1):c.2586G>A (p.Leu862=)
|
|
|
NM_007327.4(GRIN1):c.2614C>G (p.Pro872Ala)
|
rs1833802873
|
|
NM_007327.4(GRIN1):c.742C>T (p.Leu248=)
|
|
|
NM_007327.4(GRIN1):c.793+23dup
|
|
|
NM_007327.4(GRIN1):c.879C>G (p.His293Gln)
|
rs746040843
|
|
NM_007347.5(AP4E1):c.1316+44_1316+54del
|
rs144809125
|
|
NM_007347.5(AP4E1):c.3096-57dup
|
rs3840015
|
|
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT
|
rs3059695
|
|
NM_007375.4(TARDBP):c.238+21dup
|
|
|
NM_007375.4(TARDBP):c.239-18T>C
|
|
|
NM_007375.4(TARDBP):c.714+69dup
|
rs143130606
|
|
NM_007375.4(TARDBP):c.792C>T (p.His264=)
|
|
|
NM_012073.5(CCT5):c.*513G>C
|
rs72738997
|
|
NM_012073.5(CCT5):c.1498+31G>A
|
rs58620077
|
|
NM_012073.5(CCT5):c.332-19_332-16del
|
rs376551309
|
|
NM_012179.4(FBXO7):c.1183-7del
|
|
|
NM_012179.4(FBXO7):c.1271_1272delinsAT (p.Phe424Tyr)
|
rs1601520476
|
|
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His)
|
rs34316445
|
|
NM_012179.4(FBXO7):c.872-9dup
|
|
|
NM_012179.4(FBXO7):c.968-10_968-9del
|
|
|
NM_012193.4(FZD4):c.*2047C>T
|
rs527339048
|
|
NM_012193.4(FZD4):c.*2960T>C
|
rs59987244
|
|
NM_012281.3(KCND2):c.1279-10dup
|
|
|
NM_012281.3(KCND2):c.1616G>T (p.Arg539Leu)
|
|
|
NM_012281.3(KCND2):c.1716-8del
|
rs570695615
|
|
NM_012281.3(KCND2):c.1716-8dup
|
|
|
NM_012338.4(TSPAN12):c.-277C>T
|
rs549451459
|
|
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32]
|
rs60726084
|
|
NM_013254.4(TBK1):c.1341-3del
|
rs201728462
|
|
NM_013254.4(TBK1):c.1796C>T (p.Thr599Met)
|
|
|
NM_013254.4(TBK1):c.1954_1956del (p.Asn652del)
|
rs141727722
|
|
NM_013254.4(TBK1):c.1960-10G>T
|
rs371275822
|
|
NM_013254.4(TBK1):c.201T>C (p.Ile67=)
|
|
|
NM_013254.4(TBK1):c.229-4dup
|
rs57810028
|
|
NM_013254.4(TBK1):c.229-5_229-4dup
|
|
|
NM_013254.4(TBK1):c.358+13A>G
|
|
|
NM_013254.4(TBK1):c.541-9del
|
rs369498196
|
|
NM_013254.4(TBK1):c.541-9dup
|
rs369498196
|
|
NM_013254.4(TBK1):c.812+18A>G
|
|
|
NM_013254.4(TBK1):c.992+13A>G
|
|
|
NM_013254.4(TBK1):c.992+21_992+23del
|
rs138753162
|
|
NM_013275.6(ANKRD11):c.-268GCC[5]
|
rs953053004
|
|
NM_013275.6(ANKRD11):c.1019C>T (p.Thr340Met)
|
|
|
NM_013275.6(ANKRD11):c.1056C>T (p.Asp352=)
|
|
|
NM_013275.6(ANKRD11):c.1079C>T (p.Pro360Leu)
|
|
|
NM_013275.6(ANKRD11):c.111C>T (p.Thr37=)
|
|
|
NM_013275.6(ANKRD11):c.1254C>G (p.Val418=)
|
|
|
NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=)
|
rs74033734
|
|
NM_013275.6(ANKRD11):c.130C>T (p.Arg44Cys)
|
|
|
NM_013275.6(ANKRD11):c.135C>T (p.Gly45=)
|
|
|
NM_013275.6(ANKRD11):c.141C>T (p.Gly47=)
|
|
|
NM_013275.6(ANKRD11):c.1671G>A (p.Pro557=)
|
|
|
NM_013275.6(ANKRD11):c.1674T>C (p.Ala558=)
|
|
|
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly)
|
rs115797011
|
|
NM_013275.6(ANKRD11):c.190G>A (p.Ala64Thr)
|
|
|
NM_013275.6(ANKRD11):c.191C>T (p.Ala64Val)
|
|
|
NM_013275.6(ANKRD11):c.245G>A (p.Arg82Gln)
|
|
|
NM_013275.6(ANKRD11):c.249G>A (p.Lys83=)
|
|
|
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=)
|
rs150652124
|
|
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu)
|
rs137894790
|
|
NM_013275.6(ANKRD11):c.3432G>A (p.Pro1144=)
|
|
|
NM_013275.6(ANKRD11):c.355C>T (p.Leu119Phe)
|
|
|
NM_013275.6(ANKRD11):c.3573C>G (p.Ala1191=)
|
rs62000377
|
|
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)
|
rs1276607391
|
|
NM_013275.6(ANKRD11):c.3825C>T (p.Asp1275=)
|
|
|
NM_013275.6(ANKRD11):c.3880G>C (p.Glu1294Gln)
|
|
|
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=)
|
rs143428884
|
|
NM_013275.6(ANKRD11):c.401A>G (p.Asp134Gly)
|
|
|
NM_013275.6(ANKRD11):c.4236AGA[1] (p.Glu1413del)
|
rs778347369
|
|
NM_013275.6(ANKRD11):c.4367T>C (p.Leu1456Pro)
|
|
|
NM_013275.6(ANKRD11):c.4442C>T (p.Ala1481Val)
|
|
|
NM_013275.6(ANKRD11):c.450G>A (p.Thr150=)
|
|
|
NM_013275.6(ANKRD11):c.458C>G (p.Ser153Cys)
|
|
|
NM_013275.6(ANKRD11):c.4912C>G (p.Pro1638Ala)
|
rs113527563
|
|
NM_013275.6(ANKRD11):c.525C>T (p.Ala175=)
|
|
|
NM_013275.6(ANKRD11):c.540C>T (p.Asp180=)
|
|
|
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile)
|
rs151288302
|
|
NM_013275.6(ANKRD11):c.544C>T (p.Arg182Trp)
|
|
|
NM_013275.6(ANKRD11):c.5464G>A (p.Asp1822Asn)
|
|
|
NM_013275.6(ANKRD11):c.580G>A (p.Val194Ile)
|
|
|
NM_013275.6(ANKRD11):c.5877C>T (p.Ala1959=)
|
|
|
NM_013275.6(ANKRD11):c.5908C>A (p.Pro1970Thr)
|
|
|
NM_013275.6(ANKRD11):c.5964C>T (p.Pro1988=)
|
|
|
NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=)
|
rs542077760
|
|
NM_013275.6(ANKRD11):c.6079C>G (p.Leu2027Val)
|
|
|
NM_013275.6(ANKRD11):c.609G>A (p.Thr203=)
|
|
|
NM_013275.6(ANKRD11):c.612G>A (p.Ala204=)
|
|
|
NM_013275.6(ANKRD11):c.6336C>T (p.Leu2112=)
|
|
|
NM_013275.6(ANKRD11):c.642C>T (p.Tyr214=)
|
|
|
NM_013275.6(ANKRD11):c.649G>A (p.Ala217Thr)
|
|
|
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=)
|
rs762643863
|
|
NM_013275.6(ANKRD11):c.6602C>T (p.Ala2201Val)
|
|
|
NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser)
|
rs201957371
|
|
NM_013275.6(ANKRD11):c.6828G>A (p.Pro2276=)
|
|
|
NM_013275.6(ANKRD11):c.6864C>T (p.Ala2288=)
|
|
|
NM_013275.6(ANKRD11):c.6977C>G (p.Ala2326Gly)
|
rs576742682
|
|
NM_013275.6(ANKRD11):c.6977C>T (p.Ala2326Val)
|
rs576742682
|
|
NM_013275.6(ANKRD11):c.705C>T (p.Asp235=)
|
|
|
NM_013275.6(ANKRD11):c.717C>T (p.His239=)
|
|
|
NM_013275.6(ANKRD11):c.7407C>T (p.Tyr2469=)
|
|
|
NM_013275.6(ANKRD11):c.745-19G>A
|
|
|
NM_013275.6(ANKRD11):c.7471-17T>G
|
|
|
NM_013275.6(ANKRD11):c.7806+11C>T
|
rs777198327
|
|
NM_013275.6(ANKRD11):c.7806+14G>A
|
|
|
NM_013275.6(ANKRD11):c.7806+82G>T
|
rs2306632
|
|
NM_013275.6(ANKRD11):c.810G>A (p.Pro270=)
|
|
|
NM_013275.6(ANKRD11):c.833C>T (p.Thr278Met)
|
|
|
NM_013275.6(ANKRD11):c.843C>T (p.Asn281=)
|
rs912859980
|
|
NM_013275.6(ANKRD11):c.867C>T (p.Tyr289=)
|
|
|
NM_013275.6(ANKRD11):c.876C>T (p.Ser292=)
|
|
|
NM_013275.6(ANKRD11):c.914C>T (p.Ala305Val)
|
|
|
NM_013328.4(PYCR2):c.797+9A>C
|
rs41307726
|
|
NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=)
|
|
|
NM_013444.4(UBQLN2):c.1464T>C (p.Ala488=)
|
|
|
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])
|
|
|
NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His)
|
|
|
NM_013444.4(UBQLN2):c.327G>C (p.Gln109His)
|
|
|
NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala)
|
|
|
NM_013444.4(UBQLN2):c.405T>C (p.Pro135=)
|
|
|
NM_014043.4(CHMP2B):c.*1376G>C
|
rs191203869
|
|
NM_014053.4(FLVCR1):c.*1880TAAA[7]
|
rs141272551
|
|
NM_014053.4(FLVCR1):c.*2061CA[12]
|
rs139242973
|
|
NM_014053.4(FLVCR1):c.*3130_*3131insAATT
|
rs10655434
|
|
NM_014053.4(FLVCR1):c.*3482C>G
|
rs12142813
|
|
NM_014053.4(FLVCR1):c.1413+82TTG[6]
|
rs41300975
|
|
NM_014053.4(FLVCR1):c.1594-13_1594-10dup
|
rs41301015
|
|
NM_014236.4(GNPAT):c.*18T>C
|
rs150776112
|
|
NM_014236.4(GNPAT):c.569-11del
|
rs199905093
|
|
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_014271.4(IL1RAPL1):c.-302del
|
rs779869307
|
|
NM_014324.6(AMACR):c.391+16del
|
|
|
NM_014334.4(FRRS1L):c.-3_-2delinsGC
|
rs1554736515
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)
|
rs11839380
|
|
NM_014365.3(HSPB8):c.*616C>G
|
rs6413487
|
|
NM_014365.3(HSPB8):c.*616C>T
|
rs6413487
|
|
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg)
|
rs35909818
|
|
NM_014494.4(TNRC6A):c.339_350del (p.113_114PQ[1])
|
rs71156436
|
|
NM_014698.3(TMEM63A):c.1086-48del
|
rs3215221
|
|
NM_014795.4(ZEB2):c.*4845del
|
rs201661554
|
|
NM_014795.4(ZEB2):c.1204G>A (p.Val402Ile)
|
|
|
NM_014795.4(ZEB2):c.1262G>C (p.Gly421Ala)
|
rs2149877371
|
|
NM_014795.4(ZEB2):c.1291T>A (p.Ser431Thr)
|
rs1267201464
|
|
NM_014795.4(ZEB2):c.1361A>T (p.Asn454Ile)
|
rs1560607170
|
|
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=)
|
rs34890427
|
|
NM_014795.4(ZEB2):c.1446A>C (p.Glu482Asp)
|
rs886043609
|
|
NM_014795.4(ZEB2):c.1447A>G (p.Ile483Val)
|
|
|
NM_014795.4(ZEB2):c.1491A>C (p.Gln497His)
|
rs200378546
|
|
NM_014795.4(ZEB2):c.1534G>T (p.Gly512Cys)
|
rs141781307
|
|
NM_014795.4(ZEB2):c.1598T>C (p.Val533Ala)
|
|
|
NM_014795.4(ZEB2):c.1637A>T (p.Asp546Val)
|
|
|
NM_014795.4(ZEB2):c.1711A>G (p.Met571Val)
|
rs2149877101
|
|
NM_014795.4(ZEB2):c.1879G>A (p.Val627Ile)
|
rs1703275164
|
|
NM_014795.4(ZEB2):c.1897G>T (p.Ala633Ser)
|
rs2149876991
|
|
NM_014795.4(ZEB2):c.1958A>G (p.Lys653Arg)
|
|
|
NM_014795.4(ZEB2):c.1966A>G (p.Met656Val)
|
|
|
NM_014795.4(ZEB2):c.1993A>G (p.Met665Val)
|
rs1388932284
|
|
NM_014795.4(ZEB2):c.2119T>A (p.Ser707Thr)
|
rs1244099058
|
|
NM_014795.4(ZEB2):c.2204C>T (p.Pro735Leu)
|
|
|
NM_014795.4(ZEB2):c.224G>A (p.Ser75Asn)
|
rs1703745750
|
|
NM_014795.4(ZEB2):c.242G>C (p.Arg81Thr)
|
rs1703745146
|
|
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr)
|
rs1553961536
|
|
NM_014795.4(ZEB2):c.2486G>A (p.Ser829Asn)
|
rs730881198
|
|
NM_014795.4(ZEB2):c.2494G>A (p.Ala832Thr)
|
rs1573715635
|
|
NM_014795.4(ZEB2):c.2519G>A (p.Ser840Asn)
|
|
|
NM_014795.4(ZEB2):c.2537A>G (p.His846Arg)
|
|
|
NM_014795.4(ZEB2):c.2538T>A (p.His846Gln)
|
rs557767273
|
|
NM_014795.4(ZEB2):c.2863T>C (p.Tyr955His)
|
|
|
NM_014795.4(ZEB2):c.2896C>T (p.Leu966Phe)
|
|
|
NM_014795.4(ZEB2):c.2951C>T (p.Ser984Phe)
|
rs143474223
|
|
NM_014795.4(ZEB2):c.3067+6A>T
|
rs143450927
|
|
NM_014795.4(ZEB2):c.3201G>A (p.Ser1067=)
|
rs730881180
|
|
NM_014795.4(ZEB2):c.32G>A (p.Arg11Gln)
|
rs1476193985
|
|
NM_014795.4(ZEB2):c.3327C>A (p.Asn1109Lys)
|
rs1288140327
|
|
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val)
|
rs1360979536
|
|
NM_014795.4(ZEB2):c.3574G>T (p.Asp1192Tyr)
|
|
|
NM_014795.4(ZEB2):c.582A>C (p.Gln194His)
|
rs918109625
|
|
NM_014795.4(ZEB2):c.593-18_593-17insTG
|
rs776927209
|
|
NM_014795.4(ZEB2):c.593-27CT[5]
|
|
|
NM_014795.4(ZEB2):c.702C>T (p.His234=)
|
rs140169964
|
|
NM_014795.4(ZEB2):c.74-27_74-20dup
|
rs748573164
|
|
NM_014795.4(ZEB2):c.74-3C>T
|
rs984545941
|
|
NM_014795.4(ZEB2):c.807+3G>A
|
rs144925893
|
|
NM_014795.4(ZEB2):c.807+3G>T
|
rs144925893
|
|
NM_014795.4(ZEB2):c.807+8del
|
rs1411186011
|
|
NM_014795.4(ZEB2):c.807+8dup
|
rs1411186011
|
|
NM_014795.4(ZEB2):c.9G>A (p.Gln3=)
|
rs149882004
|
|
NM_014795.4(ZEB2):c.9G>C (p.Gln3His)
|
rs149882004
|
|
NM_014795.4:c.593-18_593-17insTG
|
rs2149879288
|
|
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup)
|
rs572609303
|
|
NM_014844.5(TECPR2):c.1872G>A (p.Ala624=)
|
rs145129878
|
|
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[3]
|
rs3831019
|
|
NM_014844.5(TECPR2):c.2578+30_2578+42del
|
rs3831019
|
|
NM_014844.5(TECPR2):c.3111C>T (p.Cys1037=)
|
rs560017522
|
|
NM_014844.5(TECPR2):c.3407-10del
|
|
|
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=)
|
rs376646346
|
|
NM_014844.5(TECPR2):c.3790-11C>T
|
|
|
NM_014844.5(TECPR2):c.952-6del
|
|
|
NM_014845.6(FIG4):c.446+32dup
|
rs11459279
|
|
NM_014845.6(FIG4):c.447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
|
NM_014846.4(WASHC5):c.-241G>A
|
rs563795659
|
|
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_014855.3(AP5Z1):c.1315C>T (p.Leu439=)
|
rs113014863
|
|
NM_014855.3(AP5Z1):c.1595+8del
|
rs2115120465
|
|
NM_014855.3(AP5Z1):c.1707+25dup
|
rs529746844
|
|
NM_014855.3(AP5Z1):c.1806-12C>T
|
rs78959612
|
|
NM_014855.3(AP5Z1):c.1965G>C (p.Ser655=)
|
rs543467648
|
|
NM_014855.3(AP5Z1):c.2153+8G>A
|
rs189564026
|
|
NM_014855.3(AP5Z1):c.2209_2220del (p.Ser737_Ser740del)
|
rs139155501
|
|
NM_014855.3(AP5Z1):c.2301G>A (p.Val767=)
|
|
|
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala)
|
rs188569082
|
|
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg)
|
rs192794637
|
|
NM_014946.4(SPAST):c.*1969A>T
|
rs533154653
|
|
NM_014946.4(SPAST):c.127G>C (p.Glu43Gln)
|
|
|
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)
|
rs542793579
|
|
NM_014946.4(SPAST):c.1494-3del
|
|
|
NM_014946.4(SPAST):c.1494-3dup
|
rs760322678
|
|
NM_014946.4(SPAST):c.1536+27del
|
|
|
NM_014946.4(SPAST):c.1536+27dup
|
|
|
NM_014946.4(SPAST):c.503-8dup
|
|
|
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys)
|
rs558882317
|
|
NM_014946.4(SPAST):c.871-17del
|
|
|
NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)
|
|
|
NM_015046.7(SETX):c.*1148T>G
|
rs138991890
|
|
NM_015046.7(SETX):c.*1368G>A
|
rs7025
|
|
NM_015046.7(SETX):c.*1370G>C
|
rs116822064
|
|
NM_015046.7(SETX):c.*2190A>G
|
rs531640605
|
|
NM_015046.7(SETX):c.*431_*432del
|
rs112251805
|
|
NM_015046.7(SETX):c.1173T>C (p.Ser391=)
|
|
|
NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)
|
|
|
NM_015046.7(SETX):c.1535C>G (p.Ser512Cys)
|
|
|
NM_015046.7(SETX):c.1549A>G (p.Met517Val)
|
|
|
NM_015046.7(SETX):c.1576A>G (p.Met526Val)
|
rs762013471
|
|
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
|
|
|
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)
|
|
|
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
|
|
|
NM_015046.7(SETX):c.1783A>G (p.Ile595Val)
|
|
|
NM_015046.7(SETX):c.1890G>A (p.Thr630=)
|
|
|
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
|
|
|
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
|
|
|
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
|
|
|
NM_015046.7(SETX):c.1966G>A (p.Val656Ile)
|
|
|
NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)
|
|
|
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)
|
|
|
NM_015046.7(SETX):c.2177G>A (p.Cys726Tyr)
|
|
|
NM_015046.7(SETX):c.2267A>T (p.Glu756Val)
|
rs202036078
|
|
NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)
|
|
|
NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)
|
|
|
NM_015046.7(SETX):c.2415C>T (p.Val805=)
|
|
|
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)
|
|
|
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
|
|
|
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys)
|
rs544815791
|
|
NM_015046.7(SETX):c.2520T>C (p.Asn840=)
|
|
|
NM_015046.7(SETX):c.2536A>G (p.Ser846Gly)
|
|
|
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)
|
|
|
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
|
|
|
NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)
|
|
|
NM_015046.7(SETX):c.2830C>G (p.Pro944Ala)
|
|
|
NM_015046.7(SETX):c.2907T>A (p.Ala969=)
|
|
|
NM_015046.7(SETX):c.2988A>G (p.Arg996=)
|
rs1358681495
|
|
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
|
|
|
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly)
|
rs768510428
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)
|
|
|
NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)
|
|
|
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
|
|
|
NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)
|
|
|
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)
|
|
|
NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)
|
|
|
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser)
|
rs545072717
|
|
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)
|
|
|
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)
|
|
|
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
|
|
|
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala)
|
rs141996565
|
|
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn)
|
rs149558692
|
|
NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)
|
|
|
NM_015046.7(SETX):c.3632G>A (p.Arg1211His)
|
|
|
NM_015046.7(SETX):c.3651G>T (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
|
|
|
NM_015046.7(SETX):c.3761A>C (p.Asn1254Thr)
|
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)
|
|
|
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)
|
|
|
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)
|
rs1445388214
|
|
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)
|
|
|
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
|
|
|
NM_015046.7(SETX):c.43A>G (p.Ile15Val)
|
rs151040199
|
|
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
|
|
|
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)
|
|
|
NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)
|
|
|
NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)
|
|
|
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)
|
|
|
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn)
|
rs746807833
|
|
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
|
|
|
NM_015046.7(SETX):c.4641A>G (p.Thr1547=)
|
|
|
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu)
|
rs776238150
|
|
NM_015046.7(SETX):c.4848T>A (p.Thr1616=)
|
|
|
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)
|
|
|
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg)
|
rs150918808
|
|
NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)
|
|
|
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
|
rs375942182
|
|
NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)
|
|
|
NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)
|
|
|
NM_015046.7(SETX):c.4992G>A (p.Pro1664=)
|
|
|
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)
|
|
|
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)
|
|
|
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
|
|
|
NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)
|
|
|
NM_015046.7(SETX):c.5275-14del
|
rs761232500
|
|
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
|
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)
|
|
|
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
|
|
|
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)
|
|
|
NM_015046.7(SETX):c.5609A>G (p.Asn1870Ser)
|
|
|
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
|
|
|
NM_015046.7(SETX):c.5754T>C (p.Asp1918=)
|
|
|
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro)
|
rs761031238
|
|
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)
|
|
|
NM_015046.7(SETX):c.6209-19dup
|
|
|
NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)
|
|
|
NM_015046.7(SETX):c.6325-5dup
|
|
|
NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)
|
|
|
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)
|
|
|
NM_015046.7(SETX):c.667C>G (p.Leu223Val)
|
rs774068411
|
|
NM_015046.7(SETX):c.682A>G (p.Met228Val)
|
|
|
NM_015046.7(SETX):c.6842+11dup
|
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-5del
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)
|
|
|
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn)
|
|
|
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)
|
|
|
NM_015046.7(SETX):c.7200-10dup
|
rs531485265
|
|
NM_015046.7(SETX):c.7200-11_7200-10del
|
rs531485265
|
|
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)
|
|
|
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val)
|
rs1402767850
|
|
NM_015046.7(SETX):c.7222T>C (p.Leu2408=)
|
|
|
NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)
|
|
|
NM_015046.7(SETX):c.7508C>G (p.Ser2503Cys)
|
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)
|
|
|
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)
|
|
|
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)
|
|
|
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)
|
rs368269464
|
|
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)
|
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)
|
rs144121978
|
|
NM_015046.7(SETX):c.7786G>T (p.Ala2596Ser)
|
|
|
NM_015046.7(SETX):c.7810G>A (p.Val2604Met)
|
rs757554863
|
|
NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)
|
|
|
NM_015046.7(SETX):c.7813C>T (p.Arg2605Trp)
|
|
|
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
|
|
|
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
|
|
|
NM_015046.7(SETX):c.896G>A (p.Arg299His)
|
|
|
NM_015046.7(SETX):c.92A>G (p.Gln31Arg)
|
|
|
NM_015100.4(POGZ):c.1524-10T>G
|
rs2274534
|
|
NM_015100.4(POGZ):c.1927-17del
|
rs3831142
|
|
NM_015158.5(KANK1):c.3554-9_3554-5del
|
rs58169581
|
|
NM_015161.3(ARL6IP1):c.408+17G>T
|
rs202235339
|
|
NM_015161.3(ARL6IP1):c.494-9del
|
rs748985230
|
|
NM_015166.3(MLC1):c.-528dup
|
rs137931
|
|
NM_015166.4(MLC1):c.*1623G>T
|
rs35730155
|
|
NM_015166.4(MLC1):c.*661G>C
|
rs376823805
|
|
NM_015166.4(MLC1):c.-59-14T>A
|
rs141840641
|
|
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)
|
rs745656804
|
|
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys)
|
rs41302601
|
|
NM_015166.4(MLC1):c.772-80C>G
|
rs75474964
|
|
NM_015192.4(PLCB1):c.2043+22del
|
rs761743488
|
|
NM_015192.4(PLCB1):c.2710+22del
|
rs747461333
|
|
NM_015192.4(PLCB1):c.67A>G (p.Lys23Glu)
|
rs2051304754
|
|
NM_015214.3(DDHD2):c.1057+9dup
|
|
|
NM_015214.3(DDHD2):c.411+21_411+22del
|
|
|
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=)
|
rs12128526
|
|
NM_015215.4(CAMTA1):c.234+62447C>T
|
|
|
NM_015267.4(CUX2):c.760G>A (p.Glu254Lys)
|
rs1886461979
|
|
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val)
|
rs61758100
|
|
NM_015338.6(ASXL1):c.*90T>C
|
rs2295763
|
|
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly)
|
rs142172134
|
|
NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg)
|
rs151317625
|
|
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del)
|
rs762939072
|
|
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg)
|
rs141930107
|
|
NM_015338.6(ASXL1):c.57+19G>A
|
rs200198574
|
|
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=)
|
rs7156492
|
|
NM_015346.4(ZFYVE26):c.3210C>T (p.Pro1070=)
|
rs7156492
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015346.4(ZFYVE26):c.7129-19_7129-17dup
|
rs111465559
|
|
NM_015443.4(KANSL1):c.*1328del
|
rs71665335
|
|
NM_015443.4(KANSL1):c.*1354del
|
rs67641084
|
|
NM_015443.4(KANSL1):c.*1520del
|
rs67801660
|
|
NM_015443.4(KANSL1):c.*359_*360insAGAGGGC
|
rs113448888
|
|
NM_015443.4(KANSL1):c.*885del
|
rs5820607
|
|
NM_015443.4(KANSL1):c.-90+24CCT[3]
|
rs143625699
|
|
NM_015474.4(SAMHD1):c.1609-2del
|
|
|
NM_015474.4(SAMHD1):c.510-18del
|
rs772577201
|
|
NM_015474.4(SAMHD1):c.626-64_626-63del
|
rs529639777
|
|
NM_015509.4(NECAP1):c.677-17del
|
|
|
NM_015559.3(SETBP1):c.*4753del
|
rs10715988
|
|
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu)
|
rs11082414
|
|
NM_015915.5(ATL1):c.1552-24_1552-20del
|
rs202061961
|
|
NM_015915.5(ATL1):c.1552-68_1552-67insATA
|
rs3080581
|
|
NM_015915.5(ATL1):c.418-19G>T
|
rs2934684
|
|
NM_015915.5(ATL1):c.573+24dup
|
|
|
NM_015915.5(ATL1):c.574-57TC[11]
|
rs3834518
|
|
NM_015915.5(ATL1):c.574-5del
|
|
|
NM_015915.5(ATL1):c.991-13dup
|
rs760671844
|
|
NM_015915.5(ATL1):c.991-3del
|
rs753642042
|
|
NM_015915.5(ATL1):c.991-3dup
|
rs753642042
|
|
NM_015957.4(APIP):c.-53C>T
|
rs2956113
|
|
NM_015957.4(APIP):c.57+78A>G
|
rs2016814
|
|
NM_015981.4(CAMK2A):c.1467-87A>T
|
rs17712679
|
|
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His)
|
rs1927947896
|
|
NM_016032.4(ZDHHC9):c.488-15C>G
|
|
|
NM_016032.4(ZDHHC9):c.488-19CT[3]
|
rs762762877
|
|
NM_016032.4(ZDHHC9):c.621C>T (p.Ala207=)
|
|
|
NM_016032.4(ZDHHC9):c.674+10G>A
|
|
|
NM_016032.4(ZDHHC9):c.714C>T (p.Ser238=)
|
|
|
NM_016032.4(ZDHHC9):c.987A>C (p.Thr329=)
|
|
|
NM_016042.4(EXOSC3):c.*118G>T
|
rs1059059
|
|
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
|
|
|
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
|
|
|
NM_016219.5(MAN1B1):c.1255-13del
|
|
|
NM_016219.5(MAN1B1):c.1567-18G>A
|
|
|
NM_016219.5(MAN1B1):c.31G>A (p.Ala11Thr)
|
|
|
NM_016219.5(MAN1B1):c.620+10G>A
|
|
|
NM_016373.4(WWOX):c.1057-14T>C
|
rs66481974
|
|
NM_016373.4(WWOX):c.107+9del
|
rs2151651994
|
|
NM_016373.4(WWOX):c.108-13dup
|
rs146697931
|
|
NM_016373.4(WWOX):c.108-14_108-13dup
|
rs146697931
|
|
NM_016373.4(WWOX):c.108-6dup
|
rs754221329
|
|
NM_016373.4(WWOX):c.1239C>T (p.Ser413=)
|
rs199576434
|
|
NM_016373.4(WWOX):c.409+16A>C
|
rs12934985
|
|
NM_016373.4(WWOX):c.525C>G (p.Ala175=)
|
|
|
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)
|
rs11545029
|
|
NM_016373.4(WWOX):c.535G>C (p.Ala179Pro)
|
rs11545029
|
|
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)
|
rs11545029
|
|
NM_016373.4(WWOX):c.544C>G (p.Leu182Val)
|
|
|
NM_016373.4(WWOX):c.618G>A (p.Val206=)
|
rs376279847
|
|
NM_016373.4(WWOX):c.747C>G (p.Arg249=)
|
rs375934868
|
|
NM_016373.4(WWOX):c.876T>C (p.Ala292=)
|
rs74030232
|
|
NM_016373.4(WWOX):c.876T>G (p.Ala292=)
|
rs74030232
|
|
NM_016464.5(TMEM138):c.129-11dup
|
|
|
NM_016630.7(SPG21):c.*75=
|
|
|
NM_016955.4(SEPSECS):c.115-18dup
|
rs34423002
|
|
NM_016955.4(SEPSECS):c.115-4del
|
rs34423002
|
|
NM_017635.5(KMT5B):c.544-19dup
|
rs3832715
|
|
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln)
|
rs61744358
|
|
NM_017791.3(FLVCR2):c.543G>A (p.Val181=)
|
rs2287016
|
|
NM_017882.3(CLN6):c.297+19del
|
rs61224699
|
|
NM_017882.3(CLN6):c.298-3del
|
rs1567095944
|
|
NM_017882.3(CLN6):c.487-12T>A
|
rs571940397
|
|
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser)
|
rs527373013
|
|
NM_017882.3(CLN6):c.83+14dup
|
rs756808642
|
|
NM_018023.5(YEATS2):c.1947+46_1947+48del
|
rs3830564
|
|
NM_018023.5(YEATS2):c.2412AGG[8] (p.Gly814del)
|
rs146705467
|
|
NM_018023.5(YEATS2):c.292-27T>C
|
rs116502703
|
|
NM_018026.4(PACS1):c.1067G>A (p.Arg356His)
|
|
|
NM_018026.4(PACS1):c.1199+10C>G
|
rs199906288
|
|
NM_018026.4(PACS1):c.1199+11dup
|
|
|
NM_018026.4(PACS1):c.1199+3G>A
|
|
|
NM_018026.4(PACS1):c.1216A>T (p.Met406Leu)
|
|
|
NM_018026.4(PACS1):c.1218G>A (p.Met406Ile)
|
|
|
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
|
|
|
NM_018026.4(PACS1):c.1286C>A (p.Thr429Asn)
|
rs760985201
|
|
NM_018026.4(PACS1):c.1325C>G (p.Ser442Cys)
|
|
|
NM_018026.4(PACS1):c.1463C>T (p.Thr488Met)
|
|
|
NM_018026.4(PACS1):c.1523A>G (p.Lys508Arg)
|
|
|
NM_018026.4(PACS1):c.1534C>T (p.Pro512Ser)
|
|
|
NM_018026.4(PACS1):c.1626+4C>A
|
|
|
NM_018026.4(PACS1):c.1804G>A (p.Val602Met)
|
|
|
NM_018026.4(PACS1):c.1910C>T (p.Ser637Phe)
|
|
|
NM_018026.4(PACS1):c.2108A>T (p.Gln703Leu)
|
|
|
NM_018026.4(PACS1):c.2144A>G (p.Asn715Ser)
|
|
|
NM_018026.4(PACS1):c.2283C>T (p.Pro761=)
|
|
|
NM_018026.4(PACS1):c.2336C>T (p.Ser779Phe)
|
|
|
NM_018026.4(PACS1):c.2353A>G (p.Ser785Gly)
|
|
|
NM_018026.4(PACS1):c.2369G>A (p.Arg790Gln)
|
rs1855762487
|
|
NM_018026.4(PACS1):c.2374G>A (p.Ala792Thr)
|
|
|
NM_018026.4(PACS1):c.2450G>C (p.Gly817Ala)
|
rs1855812873
|
|
NM_018026.4(PACS1):c.2455G>A (p.Val819Met)
|
|
|
NM_018026.4(PACS1):c.2494G>A (p.Gly832Arg)
|
|
|
NM_018026.4(PACS1):c.2528C>T (p.Ala843Val)
|
|
|
NM_018026.4(PACS1):c.2698G>A (p.Val900Met)
|
|
|
NM_018026.4(PACS1):c.424G>A (p.Val142Ile)
|
rs2134674046
|
|
NM_018026.4(PACS1):c.445-15T>C
|
rs182977545
|
|
NM_018026.4(PACS1):c.534+3G>A
|
rs2134698969
|
|
NM_018026.4(PACS1):c.661-5C>G
|
rs79265330
|
|
NM_018026.4(PACS1):c.676A>C (p.Asn226His)
|
rs1175983246
|
|
NM_018026.4(PACS1):c.731C>G (p.Pro244Arg)
|
|
|
NM_018026.4(PACS1):c.794C>G (p.Ser265Cys)
|
|
|
NM_018026.4(PACS1):c.897+16C>T
|
|
|
NM_018026.4(PACS1):c.897+9C>G
|
rs184374266
|
|
NM_018052.5(VAC14):c.2115G>T (p.Pro705=)
|
rs2278983
|
|
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_018100.4(EFHC1):c.*1749_*1750insAC
|
rs58779695
|
|
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)
|
rs3804506
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
NM_018100.4(EFHC1):c.723+106C>T
|
rs190021570
|
|
NM_018100.4(EFHC1):c.723+66del
|
rs142210037
|
|
NM_018122.5(DARS2):c.127+94ATT[10]
|
rs55949406
|
|
NM_018122.5(DARS2):c.228-10del
|
rs374122386
|
|
NM_018122.5(DARS2):c.228-12C>G
|
rs9425753
|
|
NM_018129.4(PNPO):c.*764dup
|
rs199634607
|
|
NM_018206.6(VPS35):c.-34G>A
|
rs3743928
|
|
NM_018206.6(VPS35):c.1368+15A>G
|
|
|
NM_018206.6(VPS35):c.199+8T>C
|
|
|
NM_018206.6(VPS35):c.915-16T>G
|
rs757051230
|
|
NM_018206.6(VPS35):c.915-3del
|
rs569369937
|
|
NM_018319.3(TDP1):c.-276_-274dupCCG
|
rs35210768
|
|
NM_018319.4(TDP1):c.*608del
|
rs397897279
|
|
NM_018325.5(C9orf72):c.600+27A>G
|
rs2589050
|
|
NM_018444.3(PDP1):c.-273T>A
|
rs4469422
|
|
NM_018713.3(SLC30A10):c.*1088G>A
|
rs2275706
|
|
NM_018713.3(SLC30A10):c.*1128del
|
rs59755757
|
|
NM_018713.3(SLC30A10):c.*115C>G
|
rs2231736
|
|
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
|
|
NM_018723.4(RBFOX1):c.28-11del
|
|
|
NM_018723.4(RBFOX1):c.758-4G>T
|
rs112339093
|
|
NM_018723.4(RBFOX1):c.758-5C>T
|
rs368263619
|
|
NM_018723.4(RBFOX1):c.879G>A (p.Pro293=)
|
rs200006523
|
|
NM_018723.4(RBFOX1):c.879G>C (p.Pro293=)
|
rs200006523
|
|
NM_018834.6(MATR3):c.*640A>G
|
rs145836548
|
|
NM_018834.6(MATR3):c.-43T>A
|
rs12153162
|
|
NM_018834.6(MATR3):c.1603-17T>C
|
rs199789148
|
|
NM_018834.6(MATR3):c.1778+19del
|
rs753454728
|
|
NM_018834.6(MATR3):c.1779-20GT[2]
|
rs779005896
|
|
NM_018834.6(MATR3):c.2494-12_2494-11del
|
rs756391139
|
|
NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu)
|
|
|
NM_018941.4(CLN8):c.639G>T (p.Trp213Cys)
|
rs113304303
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_019023.5(PRMT7):c.1650+27A>C
|
rs1868159
|
|
NM_019842.4(KCNQ5):c.204C>T (p.Leu68=)
|
rs34821312
|
|
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del)
|
rs71929261
|
|
NM_020066.5(FMN2):c.162del (p.Gly55fs)
|
rs1572736047
|
|
NM_020247.4(COQ8A):c.*807_*808insT
|
rs3215920
|
|
NM_020247.5(COQ8A):c.*389dup
|
rs11420839
|
|
NM_020247.5(COQ8A):c.1256+32del
|
rs3215919
|
|
NM_020247.5(COQ8A):c.1257-56G>T
|
rs1574185
|
|
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)
|
rs12593
|
|
NM_020247.5(COQ8A):c.940-52C>G
|
rs2297413
|
|
NM_020335.3(VANGL2):c.403C>T (p.Arg135Trp)
|
|
|
NM_020365.5(EIF2B3):c.-72C>G
|
rs489676
|
|
NM_020631.5(PLEKHG5):c.*1158G>C
|
rs2986754
|
|
NM_020631.5(PLEKHG5):c.*1376_*1379delGCGG
|
rs45542640
|
|
NM_020631.5(PLEKHG5):c.*697C>T
|
rs3176900
|
|
NM_020631.6(PLEKHG5):c.1393-22dup
|
rs111312565
|
|
NM_020631.6(PLEKHG5):c.1393-8dup
|
|
|
NM_020631.6(PLEKHG5):c.1801-15del
|
rs750991690
|
|
NM_020631.6(PLEKHG5):c.1801-15dup
|
|
|
NM_020631.6(PLEKHG5):c.210+14dup
|
|
|
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
|
|
|
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs)
|
rs201182604
|
|
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=)
|
rs80031446
|
|
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.302+10_302+11delinsTT
|
rs1553175406
|
|
NM_020631.6(PLEKHG5):c.302+16del
|
|
|
NM_020631.6(PLEKHG5):c.43+14_43+20del
|
rs527883968
|
|
NM_020631.6(PLEKHG5):c.591+15del
|
|
|
NM_020699.4(GATAD2B):c.729+10C>G
|
rs753734177
|
|
NM_020708.5(SLC12A5):c.52+19del
|
rs1462751577
|
|
NM_020708.5(SLC12A5):c.52+21_52+35del
|
rs141158582
|
|
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup)
|
rs201922875
|
|
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup)
|
rs143151534
|
|
NM_020745.4(AARS2):c.1041-29A>G
|
rs7740535
|
|
NM_020745.4(AARS2):c.2255+35C>A
|
rs325002
|
|
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA
|
rs10627820
|
|
NM_020771.4(HACE1):c.2443-5_2443-3del
|
rs72218235
|
|
NM_020771.4(HACE1):c.77-17_77-16insTC
|
rs10635352
|
|
NM_020821.3(VPS13C):c.4760-44T>A
|
rs113403713
|
|
NM_020821.3(VPS13C):c.8845-10del
|
rs35201581
|
|
NM_020822.3(KCNT1):c.1511-12C>G
|
rs549024643
|
|
NM_020822.3(KCNT1):c.1620-10_1620-5dup
|
rs754045989
|
|
NM_020822.3(KCNT1):c.1830G>A (p.Pro610=)
|
rs780892917
|
|
NM_020822.3(KCNT1):c.2349+7C>T
|
rs190849453
|
|
NM_020822.3(KCNT1):c.2522+15dup
|
|
|
NM_020822.3(KCNT1):c.2523-5del
|
|
|
NM_020822.3(KCNT1):c.254+18_254+19dup
|
rs141291153
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[6]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[7]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[9]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.3177+12del
|
rs749581375
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[2]
|
rs757968008
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[3]
|
rs757968008
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[5]
|
rs757968008
|
|
NM_020822.3(KCNT1):c.3420G>A (p.Leu1140=)
|
|
|
NM_020822.3(KCNT1):c.540+23del
|
rs759524379
|
|
NM_020822.3(KCNT1):c.600+11G>A
|
rs375220600
|
|
NM_020822.3(KCNT1):c.600+71dup
|
rs879903723
|
|
NM_020822.3(KCNT1):c.601-13del
|
|
|
NM_020822.3(KCNT1):c.711C>G (p.Pro237=)
|
rs117286274
|
|
NM_020822.3(KCNT1):c.74G>C (p.Arg25Pro)
|
rs764163914
|
|
NM_020822.3(KCNT1):c.759+18del
|
|
|
NM_020822.3(KCNT1):c.759+18dup
|
|
|
NM_020919.4(ALS2):c.1472-20del
|
rs571938132
|
|
NM_020919.4(ALS2):c.1738-6dup
|
rs1051818923
|
|
NM_020919.4(ALS2):c.176-10dup
|
rs777661762
|
|
NM_020919.4(ALS2):c.1816-10G>T
|
rs191447972
|
|
NM_020919.4(ALS2):c.2170+16del
|
rs746926072
|
|
NM_020919.4(ALS2):c.2418-14del
|
rs202183857
|
|
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del)
|
rs773628251
|
|
NM_020919.4(ALS2):c.4281-13del
|
|
|
NM_020919.4(ALS2):c.4407T>C (p.Tyr1469=)
|
|
|
NM_020919.4(ALS2):c.4626+19del
|
|
|
NM_020987.5(ANK3):c.*19+88G>T
|
rs2393603
|
|
NM_020987.5(ANK3):c.12686+49A>C
|
rs10733757
|
|
NM_020987.5(ANK3):c.13066-62dup
|
rs5785427
|
|
NM_020987.5(ANK3):c.1690-15dup
|
rs34796699
|
|
NM_020987.5(ANK3):c.3045G>T (p.Thr1015=)
|
rs3750800
|
|
NM_020987.5(ANK3):c.468C>G (p.Val156=)
|
rs71495633
|
|
NM_020988.3(GNAO1):c.117C>G (p.Leu39=)
|
rs747565910
|
|
NM_020988.3(GNAO1):c.119-10G>A
|
rs2143271948
|
|
NM_020988.3(GNAO1):c.275G>A (p.Gly92Asp)
|
|
|
NM_020988.3(GNAO1):c.343G>A (p.Glu115Lys)
|
rs2143647007
|
|
NM_020988.3(GNAO1):c.496G>A (p.Ala166Thr)
|
rs375960435
|
|
NM_020988.3(GNAO1):c.723+20dup
|
|
|
NM_021008.4(DEAF1):c.1504-40C>T
|
rs7112962
|
|
NM_021072.4(HCN1):c.1231-13C>T
|
|
|
NM_021072.4(HCN1):c.159C>A (p.His53Gln)
|
|
|
NM_021072.4(HCN1):c.192TGGCGGCGG[1] (p.Gly72_Gly74del)
|
rs56064803
|
|
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.252C>T (p.Ala84=)
|
rs573050222
|
|
NM_021072.4(HCN1):c.2635C>A (p.Pro879Thr)
|
rs761866949
|
|
NM_021072.4(HCN1):c.426-12del
|
rs750563670
|
|
NM_021072.4(HCN1):c.426-12dup
|
|
|
NM_021072.4(HCN1):c.426-8_426-5del
|
rs1394225411
|
|
NM_021072.4(HCN1):c.45C>T (p.Asp15=)
|
|
|
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3])
|
rs147489453
|
|
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1])
|
rs59890097
|
|
NM_021098.3(CACNA1H):c.1008C>T (p.Ala336=)
|
|
|
NM_021098.3(CACNA1H):c.1017C>T (p.Asn339=)
|
|
|
NM_021098.3(CACNA1H):c.107C>T (p.Pro36Leu)
|
|
|
NM_021098.3(CACNA1H):c.1083C>T (p.Phe361=)
|
|
|
NM_021098.3(CACNA1H):c.1092C>T (p.Ile364=)
|
|
|
NM_021098.3(CACNA1H):c.1109C>T (p.Ala370Val)
|
|
|
NM_021098.3(CACNA1H):c.1113C>T (p.Ile371=)
|
|
|
NM_021098.3(CACNA1H):c.1120-3del
|
rs748730819
|
|
NM_021098.3(CACNA1H):c.1120-3dup
|
rs748730819
|
|
NM_021098.3(CACNA1H):c.1143G>A (p.Val381=)
|
|
|
NM_021098.3(CACNA1H):c.1176A>G (p.Ser392=)
|
|
|
NM_021098.3(CACNA1H):c.1182C>T (p.Tyr394=)
|
|
|
NM_021098.3(CACNA1H):c.1185C>T (p.Asn395=)
|
|
|
NM_021098.3(CACNA1H):c.1188C>T (p.Phe396=)
|
|
|
NM_021098.3(CACNA1H):c.1201C>G (p.Leu401Val)
|
rs551581496
|
|
NM_021098.3(CACNA1H):c.1212+12C>T
|
rs8060577
|
|
NM_021098.3(CACNA1H):c.1227C>T (p.Phe409=)
|
|
|
NM_021098.3(CACNA1H):c.1320C>T (p.His440=)
|
|
|
NM_021098.3(CACNA1H):c.1344C>T (p.Ala448=)
|
|
|
NM_021098.3(CACNA1H):c.13G>T (p.Ala5Ser)
|
rs948561024
|
|
NM_021098.3(CACNA1H):c.1434C>G (p.Leu478=)
|
|
|
NM_021098.3(CACNA1H):c.1454G>A (p.Arg485His)
|
|
|
NM_021098.3(CACNA1H):c.1474C>G (p.Pro492Ala)
|
rs935642453
|
|
NM_021098.3(CACNA1H):c.1514G>A (p.Arg505His)
|
|
|
NM_021098.3(CACNA1H):c.1516C>T (p.Arg506Trp)
|
rs58593315
|
|
NM_021098.3(CACNA1H):c.151T>G (p.Ser51Ala)
|
rs1490566920
|
|
NM_021098.3(CACNA1H):c.1535C>T (p.Ala512Val)
|
|
|
NM_021098.3(CACNA1H):c.1563C>T (p.His521=)
|
|
|
NM_021098.3(CACNA1H):c.1599T>C (p.His533=)
|
|
|
NM_021098.3(CACNA1H):c.1620C>A (p.Gly540=)
|
|
|
NM_021098.3(CACNA1H):c.1686A>G (p.Pro562=)
|
|
|
NM_021098.3(CACNA1H):c.1703A>T (p.Asp568Val)
|
|
|
NM_021098.3(CACNA1H):c.1704C>T (p.Asp568=)
|
|
|
NM_021098.3(CACNA1H):c.1817C>G (p.Thr606Arg)
|
|
|
NM_021098.3(CACNA1H):c.1835A>C (p.Asn612Thr)
|
rs773099504
|
|
NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile)
|
rs773099504
|
|
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
|
|
|
NM_021098.3(CACNA1H):c.1940G>A (p.Gly647Asp)
|
|
|
NM_021098.3(CACNA1H):c.1943C>T (p.Pro648Leu)
|
|
|
NM_021098.3(CACNA1H):c.1961C>A (p.Pro654His)
|
|
|
NM_021098.3(CACNA1H):c.1961C>G (p.Pro654Arg)
|
rs778111473
|
|
NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser)
|
rs59079584
|
|
NM_021098.3(CACNA1H):c.1980C>T (p.Ile660=)
|
|
|
NM_021098.3(CACNA1H):c.2010C>T (p.Gly670=)
|
|
|
NM_021098.3(CACNA1H):c.2014G>A (p.Ala672Thr)
|
|
|
NM_021098.3(CACNA1H):c.2022C>T (p.Gly674=)
|
|
|
NM_021098.3(CACNA1H):c.2034C>T (p.Gly678=)
|
|
|
NM_021098.3(CACNA1H):c.2064C>G (p.Pro688=)
|
|
|
NM_021098.3(CACNA1H):c.2066C>T (p.Pro689Leu)
|
|
|
NM_021098.3(CACNA1H):c.2077C>A (p.Leu693Met)
|
|
|
NM_021098.3(CACNA1H):c.2092A>C (p.Lys698Gln)
|
|
|
NM_021098.3(CACNA1H):c.2110A>G (p.Thr704Ala)
|
|
|
NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu)
|
rs200422681
|
|
NM_021098.3(CACNA1H):c.212C>A (p.Pro71Gln)
|
|
|
NM_021098.3(CACNA1H):c.2153A>C (p.Glu718Ala)
|
rs538923520
|
|
NM_021098.3(CACNA1H):c.2165C>T (p.Ser722Leu)
|
|
|
NM_021098.3(CACNA1H):c.2174G>A (p.Arg725His)
|
|
|
NM_021098.3(CACNA1H):c.2179G>A (p.Val727Ile)
|
rs781150755
|
|
NM_021098.3(CACNA1H):c.2203C>G (p.Arg735Gly)
|
rs191938566
|
|
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu)
|
rs372759314
|
|
NM_021098.3(CACNA1H):c.2233C>T (p.Pro745Ser)
|
|
|
NM_021098.3(CACNA1H):c.2237C>T (p.Pro746Leu)
|
|
|
NM_021098.3(CACNA1H):c.2239C>T (p.Arg747Cys)
|
rs369566757
|
|
NM_021098.3(CACNA1H):c.2243C>T (p.Ala748Val)
|
|
|
NM_021098.3(CACNA1H):c.2246C>G (p.Thr749Arg)
|
rs749345577
|
|
NM_021098.3(CACNA1H):c.2289A>C (p.Ala763=)
|
|
|
NM_021098.3(CACNA1H):c.2295G>C (p.Gln765His)
|
|
|
NM_021098.3(CACNA1H):c.2305C>T (p.Pro769Ser)
|
|
|
NM_021098.3(CACNA1H):c.2322G>T (p.Trp774Cys)
|
rs1451924937
|
|
NM_021098.3(CACNA1H):c.2330G>A (p.Arg777His)
|
|
|
NM_021098.3(CACNA1H):c.2350G>A (p.Gly784Ser)
|
|
|
NM_021098.3(CACNA1H):c.245G>A (p.Cys82Tyr)
|
|
|
NM_021098.3(CACNA1H):c.2540G>A (p.Cys847Tyr)
|
rs202019417
|
|
NM_021098.3(CACNA1H):c.2544C>A (p.Gly848=)
|
rs28365123
|
|
NM_021098.3(CACNA1H):c.2544C>T (p.Gly848=)
|
rs28365123
|
|
NM_021098.3(CACNA1H):c.2567C>T (p.Pro856Leu)
|
|
|
NM_021098.3(CACNA1H):c.2574C>T (p.Asn858=)
|
|
|
NM_021098.3(CACNA1H):c.2592C>T (p.Ile864=)
|
|
|
NM_021098.3(CACNA1H):c.2595G>A (p.Val865=)
|
|
|
NM_021098.3(CACNA1H):c.262C>T (p.Arg88Trp)
|
|
|
NM_021098.3(CACNA1H):c.283C>A (p.Arg95=)
|
|
|
NM_021098.3(CACNA1H):c.2907+18del
|
rs2141305998
|
|
NM_021098.3(CACNA1H):c.306C>T (p.Phe102=)
|
|
|
NM_021098.3(CACNA1H):c.3097A>G (p.Lys1033Glu)
|
|
|
NM_021098.3(CACNA1H):c.3108C>T (p.Val1036=)
|
|
|
NM_021098.3(CACNA1H):c.3123C>T (p.Asp1041=)
|
|
|
NM_021098.3(CACNA1H):c.3129C>G (p.His1043Gln)
|
|
|
NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met)
|
rs369966669
|
|
NM_021098.3(CACNA1H):c.3192G>T (p.Gly1064=)
|
|
|
NM_021098.3(CACNA1H):c.3214C>T (p.Leu1072=)
|
|
|
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys)
|
rs369474500
|
|
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe)
|
rs369474500
|
|
NM_021098.3(CACNA1H):c.3237C>T (p.Cys1079=)
|
|
|
NM_021098.3(CACNA1H):c.3327C>T (p.Ser1109=)
|
|
|
NM_021098.3(CACNA1H):c.3336C>A (p.Asp1112Glu)
|
|
|
NM_021098.3(CACNA1H):c.3345G>C (p.Leu1115=)
|
|
|
NM_021098.3(CACNA1H):c.3390C>A (p.Ala1130=)
|
|
|
NM_021098.3(CACNA1H):c.3450T>C (p.Arg1150=)
|
|
|
NM_021098.3(CACNA1H):c.3601C>T (p.Pro1201Ser)
|
|
|
NM_021098.3(CACNA1H):c.3612G>A (p.Leu1204=)
|
|
|
NM_021098.3(CACNA1H):c.3614G>C (p.Arg1205Pro)
|
rs58594334
|
|
NM_021098.3(CACNA1H):c.3633T>C (p.Pro1211=)
|
|
|
NM_021098.3(CACNA1H):c.3679G>A (p.Asp1227Asn)
|
|
|
NM_021098.3(CACNA1H):c.3691C>T (p.Arg1231Cys)
|
|
|
NM_021098.3(CACNA1H):c.3692G>A (p.Arg1231His)
|
|
|
NM_021098.3(CACNA1H):c.3694A>G (p.Ile1232Val)
|
rs780672769
|
|
NM_021098.3(CACNA1H):c.3720C>T (p.Ala1240=)
|
|
|
NM_021098.3(CACNA1H):c.3727G>C (p.Asp1243His)
|
rs756447194
|
|
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp)
|
rs571145188
|
|
NM_021098.3(CACNA1H):c.3745-14G>A
|
rs8056494
|
|
NM_021098.3(CACNA1H):c.3745-14G>T
|
rs8056494
|
|
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)
|
rs372000875
|
|
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His)
|
rs534632699
|
|
NM_021098.3(CACNA1H):c.3805C>T (p.Arg1269Cys)
|
|
|
NM_021098.3(CACNA1H):c.384C>T (p.Cys128=)
|
|
|
NM_021098.3(CACNA1H):c.3851G>A (p.Arg1284His)
|
rs748613561
|
|
NM_021098.3(CACNA1H):c.3869T>G (p.Val1290Gly)
|
rs757286114
|
|
NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr)
|
rs755717160
|
|
NM_021098.3(CACNA1H):c.4038+15G>T
|
rs375169106
|
|
NM_021098.3(CACNA1H):c.4223+8del
|
|
|
NM_021098.3(CACNA1H):c.4223+8dup
|
rs545116263
|
|
NM_021098.3(CACNA1H):c.422C>T (p.Ala141Val)
|
|
|
NM_021098.3(CACNA1H):c.423C>T (p.Ala141=)
|
|
|
NM_021098.3(CACNA1H):c.4391C>T (p.Thr1464Ile)
|
|
|
NM_021098.3(CACNA1H):c.4408A>G (p.Lys1470Glu)
|
|
|
NM_021098.3(CACNA1H):c.4425C>T (p.Ala1475=)
|
|
|
NM_021098.3(CACNA1H):c.4435C>T (p.Arg1479Cys)
|
|
|
NM_021098.3(CACNA1H):c.4458C>T (p.Asn1486=)
|
|
|
NM_021098.3(CACNA1H):c.4555G>A (p.Val1519Ile)
|
rs1462779871
|
|
NM_021098.3(CACNA1H):c.4759+13CGGTGG[2]
|
rs563400847
|
|
NM_021098.3(CACNA1H):c.4772G>A (p.Ser1591Asn)
|
|
|
NM_021098.3(CACNA1H):c.4782C>G (p.Ala1594=)
|
|
|
NM_021098.3(CACNA1H):c.4786C>T (p.Arg1596Cys)
|
rs1248000181
|
|
NM_021098.3(CACNA1H):c.4803C>G (p.Ala1601=)
|
rs559982155
|
|
NM_021098.3(CACNA1H):c.4821C>T (p.Arg1607=)
|
|
|
NM_021098.3(CACNA1H):c.4929+8C>T
|
rs59027578
|
|
NM_021098.3(CACNA1H):c.4938C>T (p.Asp1646=)
|
|
|
NM_021098.3(CACNA1H):c.5039+17C>T
|
rs201391366
|
|
NM_021098.3(CACNA1H):c.5062A>G (p.Ile1688Val)
|
|
|
NM_021098.3(CACNA1H):c.508A>G (p.Thr170Ala)
|
|
|
NM_021098.3(CACNA1H):c.509C>T (p.Thr170Met)
|
|
|
NM_021098.3(CACNA1H):c.510G>A (p.Thr170=)
|
|
|
NM_021098.3(CACNA1H):c.5174-4dup
|
rs768561419
|
|
NM_021098.3(CACNA1H):c.5323+16G>A
|
|
|
NM_021098.3(CACNA1H):c.534C>T (p.Ile178=)
|
|
|
NM_021098.3(CACNA1H):c.5445+20C>G
|
|
|
NM_021098.3(CACNA1H):c.546-3dup
|
|
|
NM_021098.3(CACNA1H):c.5657A>G (p.Gln1886Arg)
|
|
|
NM_021098.3(CACNA1H):c.5659G>A (p.Gly1887Ser)
|
|
|
NM_021098.3(CACNA1H):c.5675G>A (p.Arg1892His)
|
rs58667649
|
|
NM_021098.3(CACNA1H):c.5675G>T (p.Arg1892Leu)
|
rs58667649
|
|
NM_021098.3(CACNA1H):c.568G>A (p.Gly190Arg)
|
|
|
NM_021098.3(CACNA1H):c.5722G>A (p.Ala1908Thr)
|
|
|
NM_021098.3(CACNA1H):c.5750G>A (p.Arg1917His)
|
|
|
NM_021098.3(CACNA1H):c.577G>T (p.Val193Leu)
|
rs778637721
|
|
NM_021098.3(CACNA1H):c.5784C>T (p.Pro1928=)
|
|
|
NM_021098.3(CACNA1H):c.5833C>T (p.Pro1945Ser)
|
|
|
NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.5837G>T (p.Arg1946Leu)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.5871G>A (p.Gly1957=)
|
|
|
NM_021098.3(CACNA1H):c.5875G>A (p.Gly1959Ser)
|
|
|
NM_021098.3(CACNA1H):c.588G>A (p.Ser196=)
|
|
|
NM_021098.3(CACNA1H):c.5974G>A (p.Gly1992Ser)
|
rs558813483
|
|
NM_021098.3(CACNA1H):c.5974G>C (p.Gly1992Arg)
|
|
|
NM_021098.3(CACNA1H):c.6031C>A (p.Arg2011=)
|
|
|
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp)
|
rs753241781
|
|
NM_021098.3(CACNA1H):c.6039C>T (p.Leu2013=)
|
|
|
NM_021098.3(CACNA1H):c.6048+17del
|
rs3833845
|
|
NM_021098.3(CACNA1H):c.6117G>T (p.Glu2039Asp)
|
|
|
NM_021098.3(CACNA1H):c.6180C>T (p.Arg2060=)
|
|
|
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp)
|
rs373707854
|
|
NM_021098.3(CACNA1H):c.6202C>T (p.Arg2068Cys)
|
rs759853744
|
|
NM_021098.3(CACNA1H):c.6209G>A (p.Arg2070His)
|
rs777897759
|
|
NM_021098.3(CACNA1H):c.6209G>C (p.Arg2070Pro)
|
rs777897759
|
|
NM_021098.3(CACNA1H):c.6234C>G (p.Cys2078Trp)
|
|
|
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp)
|
rs371550084
|
|
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu)
|
rs371550084
|
|
NM_021098.3(CACNA1H):c.6290C>A (p.Ala2097Asp)
|
|
|
NM_021098.3(CACNA1H):c.6292G>A (p.Asp2098Asn)
|
|
|
NM_021098.3(CACNA1H):c.634C>T (p.Arg212Cys)
|
rs370434906
|
|
NM_021098.3(CACNA1H):c.6417_6418inv (p.Ala2140Thr)
|
|
|
NM_021098.3(CACNA1H):c.6420T>C (p.Ala2140=)
|
|
|
NM_021098.3(CACNA1H):c.6473C>T (p.Ala2158Val)
|
|
|
NM_021098.3(CACNA1H):c.650G>A (p.Arg217Gln)
|
|
|
NM_021098.3(CACNA1H):c.6554A>G (p.Lys2185Arg)
|
|
|
NM_021098.3(CACNA1H):c.6565C>G (p.Pro2189Ala)
|
|
|
NM_021098.3(CACNA1H):c.6662C>G (p.Pro2221Arg)
|
|
|
NM_021098.3(CACNA1H):c.6700C>T (p.Pro2234Ser)
|
|
|
NM_021098.3(CACNA1H):c.6703A>G (p.Thr2235Ala)
|
|
|
NM_021098.3(CACNA1H):c.6724G>A (p.Gly2242Arg)
|
rs776025785
|
|
NM_021098.3(CACNA1H):c.6726G>A (p.Gly2242=)
|
rs58682447
|
|
NM_021098.3(CACNA1H):c.6739A>G (p.Lys2247Glu)
|
rs1386122386
|
|
NM_021098.3(CACNA1H):c.6749G>T (p.Arg2250Leu)
|
|
|
NM_021098.3(CACNA1H):c.6760G>T (p.Ala2254Ser)
|
|
|
NM_021098.3(CACNA1H):c.677C>T (p.Thr226Met)
|
rs770952533
|
|
NM_021098.3(CACNA1H):c.6780C>G (p.His2260Gln)
|
|
|
NM_021098.3(CACNA1H):c.6820G>A (p.Gly2274Arg)
|
rs1267207816
|
|
NM_021098.3(CACNA1H):c.6826C>T (p.Pro2276Ser)
|
rs1398479650
|
|
NM_021098.3(CACNA1H):c.6855C>A (p.Ser2285Arg)
|
rs757900694
|
|
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn)
|
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe)
|
|
|
NM_021098.3(CACNA1H):c.6904C>T (p.Pro2302Ser)
|
|
|
NM_021098.3(CACNA1H):c.6913C>A (p.Pro2305Thr)
|
|
|
NM_021098.3(CACNA1H):c.6916C>G (p.Pro2306Ala)
|
rs761917566
|
|
NM_021098.3(CACNA1H):c.6924A>G (p.Ser2308=)
|
|
|
NM_021098.3(CACNA1H):c.6950C>A (p.Pro2317His)
|
rs1442700966
|
|
NM_021098.3(CACNA1H):c.6975C>T (p.Tyr2325=)
|
|
|
NM_021098.3(CACNA1H):c.6986C>T (p.Pro2329Leu)
|
|
|
NM_021098.3(CACNA1H):c.6994C>T (p.Pro2332Ser)
|
|
|
NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr)
|
rs757713867
|
|
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala)
|
rs765057432
|
|
NM_021098.3(CACNA1H):c.7039G>A (p.Gly2347Ser)
|
|
|
NM_021098.3(CACNA1H):c.7057G>T (p.Val2353Leu)
|
rs150601404
|
|
NM_021098.3(CACNA1H):c.723C>G (p.Phe241Leu)
|
rs770535441
|
|
NM_021098.3(CACNA1H):c.723C>T (p.Phe241=)
|
|
|
NM_021098.3(CACNA1H):c.744C>T (p.Gly248=)
|
|
|
NM_021098.3(CACNA1H):c.762C>T (p.Gly254=)
|
|
|
NM_021098.3(CACNA1H):c.790A>G (p.Ser264Gly)
|
rs745571869
|
|
NM_021098.3(CACNA1H):c.850G>A (p.Gly284Ser)
|
|
|
NM_021098.3(CACNA1H):c.852C>T (p.Gly284=)
|
|
|
NM_021098.3(CACNA1H):c.856G>A (p.Glu286Lys)
|
|
|
NM_021098.3(CACNA1H):c.90G>A (p.Pro30=)
|
|
|
NM_021098.3(CACNA1H):c.913A>G (p.Ile305Val)
|
|
|
NM_021098.3(CACNA1H):c.941C>G (p.Pro314Arg)
|
|
|
NM_021098.3(CACNA1H):c.963C>T (p.Ala321=)
|
|
|
NM_021098.3(CACNA1H):c.982G>A (p.Glu328Lys)
|
|
|
NM_021098.3(CACNA1H):c.987G>T (p.Gly329=)
|
|
|
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met)
|
rs752653043
|
|
NM_021098.3(CACNA1H):c.999A>G (p.Ala333=)
|
rs529471626
|
|
NM_021267.5(CERS1):c.591-3del
|
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
NM_021625.5(TRPV4):c.1825-15C>T
|
rs200602134
|
|
NM_021625.5(TRPV4):c.760G>A (p.Val254Met)
|
rs143548402
|
|
NM_021729.6(VPS11):c.1977C>T (p.Phe659=)
|
rs2134795526
|
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752
|
|
NM_021911.3(GABRB2):c.-152-8del
|
rs56867928
|
|
NM_021980.4(OPTN):c.-227G>T
|
rs3814657
|
|
NM_022089.4(ATP13A2):c.1845+15del
|
|
|
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=)
|
rs369722835
|
|
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=)
|
rs544545629
|
|
NM_022089.4(ATP13A2):c.2251+20C>T
|
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197
|
|
NM_022168.4(IFIH1):c.1096-4del
|
rs1453617092
|
|
NM_022168.4(IFIH1):c.1491G>C (p.Thr497=)
|
rs12479043
|
|
NM_022168.4(IFIH1):c.1524+18G>A
|
|
|
NM_022168.4(IFIH1):c.1589del (p.Asn530fs)
|
rs779192156
|
|
NM_022168.4(IFIH1):c.1642-3del
|
|
|
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs)
|
rs553669430
|
|
NM_022168.4(IFIH1):c.1766-6del
|
rs548261817
|
|
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)
|
rs774076578
|
|
NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu)
|
rs539777490
|
|
NM_022168.4(IFIH1):c.770-10del
|
|
|
NM_022168.4(IFIH1):c.875-11A>C
|
rs186664431
|
|
NM_022168.4(IFIH1):c.936A>G (p.Gln312=)
|
|
|
NM_022464.5(SIL1):c.-11+21922C>T
|
|
|
NM_022464.5(SIL1):c.152_153inv (p.Thr51Met)
|
|
|
NM_022464.5(SIL1):c.353+19G>A
|
|
|
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
|
|
|
NM_024306.5(FA2H):c.*404T>A
|
rs73614641
|
|
NM_024306.5(FA2H):c.*637G>C
|
rs56033857
|
|
NM_024407.5(NDUFS7):c.*13C>A
|
rs11551663
|
|
NM_024411.5(PDYN):c.*1394C>A
|
rs112661575
|
|
NM_024411.5(PDYN):c.*771T>C
|
rs910079
|
|
NM_024528.4(NKAP):c.538+8T>A
|
rs194308
|
|
NM_024528.4(NKAP):c.539-17A>T
|
rs194307
|
|
NM_024528.4(NKAP):c.600ATC[1] (p.Ser202del)
|
rs10577974
|
|
NM_024570.4(RNASEH2B):c.322-4del
|
|
|
NM_024570.4(RNASEH2B):c.322-4dup
|
rs770781962
|
|
NM_024570.4(RNASEH2B):c.437-9del
|
rs772054107
|
|
NM_024570.4(RNASEH2B):c.437-9dup
|
rs772054107
|
|
NM_024570.4(RNASEH2B):c.925del (p.Ile309fs)
|
rs75254367
|
|
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)
|
rs75254367
|
|
NM_024665.7(TBL1XR1):c.1417-12dup
|
rs753561692
|
|
NM_024665.7(TBL1XR1):c.1417-16_1417-15dup
|
rs753561692
|
|
NM_024665.7(TBL1XR1):c.1428A>G (p.Leu476=)
|
rs544818049
|
|
NM_024665.7(TBL1XR1):c.1519-21_1519-18del
|
rs777937343
|
|
NM_024665.7(TBL1XR1):c.561-5dup
|
|
|
NM_024665.7(TBL1XR1):c.59-3dup
|
|
|
NM_024665.7(TBL1XR1):c.703-10del
|
|
|
NM_024665.7(TBL1XR1):c.865-20del
|
rs1376809747
|
|
NM_024824.5(ZC3H14):c.1354+15A>G
|
rs2297124
|
|
NM_024824.5(ZC3H14):c.2204+17_2204+41del
|
rs571303442
|
|
NM_024989.4(PGAP1):c.1273-17dup
|
rs3835877
|
|
NM_024989.4(PGAP1):c.1273-8del
|
rs3835877
|
|
NM_024989.4(PGAP1):c.1553-15dup
|
|
|
NM_024989.4(PGAP1):c.2338-19C>T
|
|
|
NM_024989.4(PGAP1):c.807+13del
|
|
|
NM_024989.4(PGAP1):c.861-14_861-11del
|
rs751306632
|
|
NM_024989.4(PGAP1):c.927+12dup
|
rs1162737906
|
|
NM_025000.4(DCAF17):c.*1565del
|
rs560178345
|
|
NM_025000.4(DCAF17):c.*2775G>T
|
rs16859404
|
|
NM_025000.4(DCAF17):c.102C>T (p.Gly34=)
|
|
|
NM_025000.4(DCAF17):c.126+21del
|
|
|
NM_025000.4(DCAF17):c.127-3dup
|
|
|
NM_025000.4(DCAF17):c.230+10del
|
|
|
NM_025000.4(DCAF17):c.322-14del
|
rs201494527
|
|
NM_025000.4(DCAF17):c.322-15dup
|
rs139655160
|
|
NM_025000.4(DCAF17):c.322-3del
|
|
|
NM_025000.4(DCAF17):c.322-3dup
|
rs372539451
|
|
NM_025000.4(DCAF17):c.322-4_322-3del
|
|
|
NM_025000.4(DCAF17):c.322-5_322-3dup
|
|
|
NM_025000.4(DCAF17):c.628-6del
|
|
|
NM_025000.4(DCAF17):c.732+70dup
|
rs58636477
|
|
NM_025000.4(DCAF17):c.838+25dup
|
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
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_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
|
|
|
NM_025137.4(SPG11):c.2445-20del
|
rs374899647
|
|
NM_025137.4(SPG11):c.2445-32dup
|
rs374899647
|
|
NM_025137.4(SPG11):c.257+17A>G
|
rs201878138
|
|
NM_025137.4(SPG11):c.258-6del
|
rs373234269
|
|
NM_025137.4(SPG11):c.2621-15dup
|
rs577083743
|
|
NM_025137.4(SPG11):c.2621-9_2621-8dup
|
|
|
NM_025137.4(SPG11):c.3292-7del
|
|
|
NM_025137.4(SPG11):c.3292-7dup
|
|
|
NM_025137.4(SPG11):c.3292-8_3292-7dup
|
rs753333408
|
|
NM_025137.4(SPG11):c.3892+14del
|
|
|
NM_025137.4(SPG11):c.443-5del
|
|
|
NM_025137.4(SPG11):c.5073G>A (p.Arg1691=)
|
rs2082747265
|
|
NM_025137.4(SPG11):c.5866+16C>A
|
rs530748278
|
|
NM_025137.4(SPG11):c.6006+15dup
|
rs758198610
|
|
NM_025137.4(SPG11):c.6100C>G (p.Arg2034Gly)
|
rs118203963
|
|
NM_025137.4(SPG11):c.6205+10C>G
|
rs548551204
|
|
NM_025137.4(SPG11):c.6205+14del
|
|
|
NM_025137.4(SPG11):c.6205+9dup
|
rs775165218
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
NM_025137.4(SPG11):c.6586-19del
|
|
|
NM_025137.4(SPG11):c.6755-17_6755-15del
|
rs143026515
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
NM_025219.3(DNAJC5):c.*2723A>G
|
rs76769576
|
|
NM_025219.3(DNAJC5):c.*4070C>G
|
rs3810500
|
|
NM_025219.3(DNAJC5):c.*727C>A
|
rs75130625
|
|
NM_025219.3(DNAJC5):c.*727C>G
|
rs75130625
|
|
NM_025219.3(DNAJC5):c.*853C>G
|
rs6011230
|
|
NM_025219.3(DNAJC5):c.322-3dup
|
rs1173184036
|
|
NM_025233.7(COASY):c.1485+19dup
|
rs763420863
|
|
NM_025233.7(COASY):c.825C>A (p.Pro275=)
|
rs148652390
|
|
NM_025233.7(COASY):c.825C>T (p.Pro275=)
|
rs148652390
|
|
NM_025243.4(SLC19A3):c.*115C>G
|
rs549546166
|
|
NM_025243.4(SLC19A3):c.360G>A (p.Glu120=)
|
rs566837952
|
|
NM_025243.4(SLC19A3):c.968C>G (p.Ala323Gly)
|
|
|
NM_025243.4(SLC19A3):c.980-4del
|
rs11334205
|
|
NM_025243.4(SLC19A3):c.980-5_980-4del
|
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_030930.4(UNC93B1):c.1090-10dup
|
rs760132599
|
|
NM_030930.4(UNC93B1):c.1221C>T (p.Ala407=)
|
rs12660
|
|
NM_030930.4(UNC93B1):c.1495G>A (p.Val499Met)
|
rs4014596
|
|
NM_030930.4(UNC93B1):c.1724_1725delinsAG (p.Pro575Gln)
|
rs1554984685
|
|
NM_030930.4(UNC93B1):c.1768G>T (p.Gly590Trp)
|
rs2375182
|
|
NM_030930.4(UNC93B1):c.888dup (p.Phe297fs)
|
rs5792426
|
|
NM_031206.7(LAS1L):c.1114G>A (p.Val372Ile)
|
rs186130633
|
|
NM_031206.7(LAS1L):c.1209C>G (p.Leu403=)
|
|
|
NM_031206.7(LAS1L):c.1301-18T>A
|
|
|
NM_031206.7(LAS1L):c.1788TGATGAAGA[1] (p.596DDE[1])
|
rs766197666
|
|
NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del)
|
rs750470319
|
|
NM_031206.7(LAS1L):c.2061C>G (p.Pro687=)
|
|
|
NM_031206.7(LAS1L):c.362+20G>C
|
|
|
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys)
|
rs201226547
|
|
NM_031448.6(C19orf12):c.*1361C>T
|
rs189239161
|
|
NM_031448.6(C19orf12):c.*1362G>A
|
rs113343769
|
|
NM_031448.6(C19orf12):c.*2790dup
|
rs35730141
|
|
NM_031448.6(C19orf12):c.*3227_*3229del
|
rs60814860
|
|
NM_031448.6(C19orf12):c.*3518C>A
|
rs62105838
|
|
NM_031448.6(C19orf12):c.*437C>G
|
rs1048104
|
|
NM_031466.8(TRAPPC9):c.-129_-109dup
|
rs367682297
|
|
NM_031844.2(HNRNPU):c.2166_2167+1delAGG
|
rs575582638
|
|
NM_031844.3(HNRNPU):c.1017+8C>T
|
rs1553283026
|
|
NM_031844.3(HNRNPU):c.1231-12dup
|
|
|
NM_031844.3(HNRNPU):c.1391A>G (p.Lys464Arg)
|
rs1573331728
|
|
NM_031844.3(HNRNPU):c.1494+19_1494+21del
|
|
|
NM_031844.3(HNRNPU):c.1494+20_1494+21del
|
|
|
NM_031844.3(HNRNPU):c.1494+21del
|
rs750413170
|
|
NM_031844.3(HNRNPU):c.1495-10_1495-6del
|
rs759862936
|
|
NM_031844.3(HNRNPU):c.1743+5G>A
|
|
|
NM_031844.3(HNRNPU):c.1744-11dup
|
rs770379796
|
|
NM_031844.3(HNRNPU):c.2168-3dup
|
|
|
NM_031844.3(HNRNPU):c.2237G>T (p.Ser746Ile)
|
rs1051595756
|
|
NM_031844.3(HNRNPU):c.2296T>G (p.Ser766Ala)
|
rs746732226
|
|
NM_031844.3(HNRNPU):c.2315A>G (p.Asn772Ser)
|
|
|
NM_031844.3(HNRNPU):c.359C>G (p.Pro120Arg)
|
rs1455165658
|
|
NM_031844.3(HNRNPU):c.374_375delinsCC (p.Glu125Ala)
|
rs1680928684
|
|
NM_031844.3(HNRNPU):c.441C>G (p.Asp147Glu)
|
rs539279281
|
|
NM_031844.3(HNRNPU):c.451G>A (p.Gly151Ser)
|
|
|
NM_031844.3(HNRNPU):c.487C>T (p.Pro163Ser)
|
|
|
NM_031844.3(HNRNPU):c.506A>G (p.Gln169Arg)
|
rs1680924291
|
|
NM_031844.3(HNRNPU):c.528G>C (p.Gln176His)
|
|
|
NM_031844.3(HNRNPU):c.542A>C (p.Lys181Thr)
|
|
|
NM_031844.3(HNRNPU):c.542A>G (p.Lys181Arg)
|
rs747403316
|
|
NM_031844.3(HNRNPU):c.557A>T (p.Lys186Met)
|
|
|
NM_031844.3(HNRNPU):c.607G>C (p.Ala203Pro)
|
|
|
NM_031844.3(HNRNPU):c.687G>A (p.Ala229=)
|
|
|
NM_031844.3(HNRNPU):c.878-9T>C
|
rs573967558
|
|
NM_032193.4(RNASEH2C):c.*948dup
|
rs142614068
|
|
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del)
|
rs141875736
|
|
NM_032383.5(HPS3):c.2887+19dup
|
rs397710976
|
|
NM_032409.3(PINK1):c.1488+14del
|
|
|
NM_032409.3(PINK1):c.827G>A (p.Arg276Gln)
|
rs548506734
|
|
NM_032409.3(PINK1):c.88G>C (p.Gly30Arg)
|
rs569753606
|
|
NM_032581.4(HYCC1):c.*3266C>T
|
rs75393023
|
|
NM_032581.4(HYCC1):c.*4278_*4279insGT
|
rs35708583
|
|
NM_032581.4(HYCC1):c.832-14dup
|
rs1554269900
|
|
NM_032737.4(LMNB2):c.1232G>A (p.Arg411His)
|
rs138467082
|
|
NM_032737.4(LMNB2):c.1554G>C (p.Thr518=)
|
rs11882908
|
|
NM_032737.4(LMNB2):c.1612G>C (p.Val538Leu)
|
rs2145444752
|
|
NM_032737.4(LMNB2):c.1629C>G (p.Pro543=)
|
rs149126950
|
|
NM_032737.4(LMNB2):c.1677C>G (p.Ser559Arg)
|
|
|
NM_032737.4(LMNB2):c.1682G>A (p.Arg561His)
|
rs145444042
|
|
NM_032737.4(LMNB2):c.1682G>T (p.Arg561Leu)
|
rs145444042
|
|
NM_032737.4(LMNB2):c.1749G>A (p.Met583Ile)
|
rs139812127
|
|
NM_032737.4(LMNB2):c.912C>A (p.Arg304=)
|
rs202001996
|
|
NM_032776.3(JMJD1C):c.1329_1331del (p.His443_Glu444delinsGln)
|
rs141981100
|
|
NM_032776.3(JMJD1C):c.168+10_168+11delinsCG
|
rs34353506
|
|
NM_032776.3(JMJD1C):c.1949C>T (p.Thr650Ile)
|
rs41274068
|
|
NM_032776.3(JMJD1C):c.2695-19dup
|
|
|
NM_032776.3(JMJD1C):c.2695-20TTGTT[4]
|
rs60227922
|
|
NM_032776.3(JMJD1C):c.334-9del
|
rs770502308
|
|
NM_032776.3(JMJD1C):c.3473_3478del (p.Gly1158_Leu1159del)
|
rs139722368
|
|
NM_032776.3(JMJD1C):c.4188G>A (p.Thr1396=)
|
|
|
NM_032776.3(JMJD1C):c.5074+17_5074+21del
|
rs749119959
|
|
NM_032776.3(JMJD1C):c.5075-5del
|
rs779803861
|
|
NM_032776.3(JMJD1C):c.5492-12dup
|
|
|
NM_032776.3(JMJD1C):c.554-11dup
|
rs758235168
|
|
NM_032776.3(JMJD1C):c.554-4del
|
|
|
NM_032776.3(JMJD1C):c.5939C>T (p.Pro1980Leu)
|
rs41274064
|
|
NM_032776.3(JMJD1C):c.6292-10del
|
rs544671297
|
|
NM_032776.3(JMJD1C):c.6292-3T>C
|
rs562569205
|
|
NM_032776.3(JMJD1C):c.678+17A>T
|
|
|
NM_032776.3(JMJD1C):c.7402-14dup
|
|
|
NM_032776.3(JMJD1C):c.982_984del (p.Lys328del)
|
rs750958010
|
|
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1])
|
rs11267906
|
|
NM_033064.5(ATCAY):c.*1540C>A
|
rs140917952
|
|
NM_033064.5(ATCAY):c.*193del
|
rs796133913
|
|
NM_033064.5(ATCAY):c.*2497C>T
|
rs143923838
|
|
NM_033064.5(ATCAY):c.545-65T>C
|
rs3810373
|
|
NM_033071.3(SYNE1):c.21832-2dup
|
rs35128811
|
|
NM_033305.2(VPS13A):c.-183G>C
|
rs12349389
|
|
NM_033305.3(VPS13A):c.*694C>A
|
rs115104076
|
|
NM_033305.3(VPS13A):c.2037+191T>C
|
rs10115162
|
|
NM_033305.3(VPS13A):c.3118+66A>C
|
rs11145367
|
|
NM_033305.3(VPS13A):c.3508-44G>T
|
rs1317304
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
NM_033305.3(VPS13A):c.3961-6dup
|
rs3216012
|
|
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)
|
rs528628591
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
NM_033305.3(VPS13A):c.8211+9del
|
rs752070804
|
|
NM_033343.4(LHX4):c.*17C>A
|
rs116482990
|
|
NM_033409.4(SLC52A3):c.-14_-6del
|
rs11467076
|
|
NM_033409.4(SLC52A3):c.1073+92T>C
|
rs8122335
|
|
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC
|
rs3833341
|
|
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=)
|
rs574008733
|
|
NM_033409.4(SLC52A3):c.705C>A (p.Leu235=)
|
rs3746806
|
|
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=)
|
rs3746806
|
|
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met)
|
rs3746803
|
|
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu)
|
|
|
NM_052867.4(NALCN):c.1593C>T (p.Val531=)
|
rs3916906
|
|
NM_052874.5(STX1B):c.105+37C>A
|
rs61239537
|
|
NM_052874.5(STX1B):c.355-14dup
|
rs1232145348
|
|
NM_052874.5(STX1B):c.463+15del
|
|
|
NM_052874.5(STX1B):c.575A>G (p.Asn192Ser)
|
rs576127046
|
|
NM_080628.3(TLDC2):c.*244del
|
|
|
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys)
|
rs373472438
|
|
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)
|
|
|
NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)
|
|
|
NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr)
|
|
|
NM_080632.3(UPF3B):c.146C>T (p.Ala49Val)
|
|
|
NM_080632.3(UPF3B):c.157-16T>G
|
rs769285530
|
|
NM_080632.3(UPF3B):c.263+14_263+18dup
|
|
|
NM_080632.3(UPF3B):c.263+15_263+18dup
|
rs55712755
|
|
NM_080632.3(UPF3B):c.263+17_263+18dup
|
rs55712755
|
|
NM_080632.3(UPF3B):c.263+18del
|
rs55712755
|
|
NM_080632.3(UPF3B):c.263+18dup
|
rs55712755
|
|
NM_080632.3(UPF3B):c.294C>T (p.Tyr98=)
|
|
|
NM_080632.3(UPF3B):c.30G>A (p.Lys10=)
|
rs557005278
|
|
NM_080632.3(UPF3B):c.370+20G>A
|
|
|
NM_080632.3(UPF3B):c.371-9del
|
|
|
NM_080632.3(UPF3B):c.384C>T (p.Pro128=)
|
|
|
NM_080632.3(UPF3B):c.93G>A (p.Gly31=)
|
|
|
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)
|
|
|
NM_130837.3(OPA1):c.*1610C>A
|
rs73069785
|
|
NM_130837.3(OPA1):c.*560T>C
|
rs7643844
|
|
NM_138775.3(ALKBH8):c.772-72_772-71del
|
rs5794554
|
|
NM_138959.3(VANGL1):c.*1749G>T
|
rs3811010
|
|
NM_138959.3(VANGL1):c.*313A>G
|
rs3811012
|
|
NM_138959.3(VANGL1):c.*5633T>G
|
rs4348723
|
|
NM_138959.3(VANGL1):c.-226G>C
|
rs116216703
|
|
NM_139058.3(ARX):c.1073+20G>A
|
|
|
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr)
|
rs776523818
|
|
NM_139058.3(ARX):c.1204G>A (p.Gly402Arg)
|
rs2048682884
|
|
NM_139058.3(ARX):c.1272G>T (p.Pro424=)
|
rs398124507
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser)
|
rs2147320407
|
|
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser)
|
rs2147320401
|
|
NM_139058.3(ARX):c.215G>C (p.Ser72Thr)
|
rs1556056580
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.421G>A (p.Gly141Ser)
|
rs2048712606
|
|
NM_139058.3(ARX):c.433G>T (p.Ala145Ser)
|
rs1438576250
|
|
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del)
|
rs750585274
|
|
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)
|
rs398124510
|
|
NM_139318.5(KCNH5):c.1362G>A (p.Met454Ile)
|
rs2140130309
|
|
NM_139318.5(KCNH5):c.1680C>A (p.Arg560=)
|
rs114074278
|
|
NM_139318.5(KCNH5):c.1802A>G (p.Asp601Gly)
|
rs2139999949
|
|
NM_139318.5(KCNH5):c.1823-5del
|
rs1367114879
|
|
NM_139318.5(KCNH5):c.197+6T>G
|
rs2139607542
|
|
NM_139318.5(KCNH5):c.198-10del
|
rs36103415
|
|
NM_139318.5(KCNH5):c.198-17dup
|
rs36103415
|
|
NM_139318.5(KCNH5):c.198-9dup
|
rs752865520
|
|
NM_139318.5(KCNH5):c.2171C>T (p.Ser724Leu)
|
|
|
NM_139318.5(KCNH5):c.2242A>T (p.Thr748Ser)
|
rs751206598
|
|
NM_139318.5(KCNH5):c.2252G>A (p.Ser751Asn)
|
rs1163598482
|
|
NM_139318.5(KCNH5):c.2254G>A (p.Val752Met)
|
|
|
NM_139318.5(KCNH5):c.2335C>A (p.Arg779Ser)
|
rs200292403
|
|
NM_139318.5(KCNH5):c.2365G>A (p.Gly789Ser)
|
rs140205536
|
|
NM_139318.5(KCNH5):c.2371G>A (p.Asp791Asn)
|
|
|
NM_139318.5(KCNH5):c.2606C>T (p.Thr869Ile)
|
|
|
NM_139318.5(KCNH5):c.2621G>A (p.Arg874His)
|
|
|
NM_139318.5(KCNH5):c.2630A>G (p.Lys877Arg)
|
|
|
NM_139318.5(KCNH5):c.2632G>A (p.Ala878Thr)
|
rs376837885
|
|
NM_139318.5(KCNH5):c.2830G>A (p.Glu944Lys)
|
rs1259576590
|
|
NM_139318.5(KCNH5):c.2860A>G (p.Lys954Glu)
|
rs1884461774
|
|
NM_139318.5(KCNH5):c.2890C>A (p.Gln964Lys)
|
rs753525158
|
|
NM_139318.5(KCNH5):c.2948A>G (p.Lys983Arg)
|
rs1271834396
|
|
NM_139318.5(KCNH5):c.356A>G (p.Glu119Gly)
|
rs2139591249
|
|
NM_139318.5(KCNH5):c.474T>G (p.Asn158Lys)
|
rs1890724757
|
|
NM_139318.5(KCNH5):c.6G>T (p.Pro2=)
|
rs141970580
|
|
NM_139318.5(KCNH5):c.733A>T (p.Ile245Leu)
|
rs754761406
|
|
NM_139318.5(KCNH5):c.74-17dup
|
rs768346675
|
|
NM_139318.5(KCNH5):c.787G>A (p.Val263Ile)
|
rs760127525
|
|
NM_139318.5(KCNH5):c.894G>C (p.Leu298=)
|
rs142927077
|
|
NM_139318.5(KCNH5):c.942+10dup
|
rs769498088
|
|
NM_144563.3(RPIA):c.633G>A (p.Lys211=)
|
rs72930711
|
|
NM_144599.5(NIPA1):c.*2515G>C
|
rs6606820
|
|
NM_144599.5(NIPA1):c.*4510T>C
|
rs528249723
|
|
NM_144599.5(NIPA1):c.21_23del (p.Ala16del)
|
rs769916931
|
|
NM_144599.5(NIPA1):c.21_26dup (p.Ala15_Ala16dup)
|
rs1555371600
|
|
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.508C>G (p.Leu170Val)
|
rs1895592461
|
|
NM_144772.3(NAXE):c.292-14G>A
|
rs942959
|
|
NM_144992.5(VWA3B):c.2843+36dup
|
rs113487988
|
|
NM_145725.3(TRAF3):c.245+10_245+21del
|
rs567455701
|
|
NM_145725.3(TRAF3):c.297+19dup
|
|
|
NM_145725.3(TRAF3):c.570+20A>G
|
rs74082942
|
|
NM_145725.3(TRAF3):c.954T>C (p.His318=)
|
|
|
NM_145868.2(ANXA11):c.-8-55G>A
|
rs11201972
|
|
NM_145868.2(ANXA11):c.688C>T (p.Arg230Cys)
|
rs1049550
|
|
NM_145868.2(ANXA11):c.745-30del
|
rs61537094
|
|
NM_145868.2(ANXA11):c.858+42CG[2]
|
rs746498821
|
|
NM_145868.2(ANXA11):c.858+47G>A
|
rs75344562
|
|
NM_145868.2(ANXA11):c.859-60C>G
|
rs12762098
|
|
NM_152296.5(ATP1A3):c.*247C>T
|
rs565195548
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152296.5(ATP1A3):c.2095-10C>T
|
rs201423892
|
|
NM_152296.5(ATP1A3):c.607-3del
|
rs781995257
|
|
NM_152296.5(ATP1A3):c.666T>A (p.Thr222=)
|
rs2217342
|
|
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu)
|
rs782230953
|
|
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)
|
rs782266448
|
|
NM_152309.3(PIK3AP1):c.1143A>G (p.Lys381=)
|
|
|
NM_152309.3(PIK3AP1):c.14-17G>A
|
|
|
NM_152309.3(PIK3AP1):c.2242-19C>T
|
|
|
NM_152415.3(VPS37A):c.417-17_417-15del
|
|
|
NM_152415.3(VPS37A):c.834A>G (p.Glu278=)
|
rs541623528
|
|
NM_152564.5(VPS13B):c.*431TTA[1]
|
rs10542428
|
|
NM_152564.5(VPS13B):c.*700GAT[1]
|
rs60078732
|
|
NM_152564.5(VPS13B):c.11496-7dup
|
|
|
NM_152564.5(VPS13B):c.11745+15del
|
rs1450725730
|
|
NM_152564.5(VPS13B):c.11746-10dup
|
|
|
NM_152564.5(VPS13B):c.1206+19_1206+34del
|
rs750619814
|
|
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=)
|
rs77759532
|
|
NM_152564.5(VPS13B):c.148-11del
|
|
|
NM_152564.5(VPS13B):c.2013+9del
|
rs2132597306
|
|
NM_152564.5(VPS13B):c.2208+9del
|
rs2132624713
|
|
NM_152564.5(VPS13B):c.2209-4T>G
|
rs201309214
|
|
NM_152564.5(VPS13B):c.2824+97G>C
|
rs7840337
|
|
NM_152564.5(VPS13B):c.2934+25dup
|
rs770873113
|
|
NM_152564.5(VPS13B):c.3445+20dup
|
|
|
NM_152564.5(VPS13B):c.3667-14dup
|
|
|
NM_152564.5(VPS13B):c.413-12del
|
|
|
NM_152564.5(VPS13B):c.413-12dup
|
|
|
NM_152564.5(VPS13B):c.4633+22del
|
rs756149542
|
|
NM_152564.5(VPS13B):c.4633+22dup
|
rs756149542
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
NM_152564.5(VPS13B):c.5076+22del
|
|
|
NM_152564.5(VPS13B):c.5077-8del
|
|
|
NM_152564.5(VPS13B):c.5221-8dup
|
rs2133931327
|
|
NM_152564.5(VPS13B):c.581-9del
|
|
|
NM_152564.5(VPS13B):c.581-9dup
|
rs60664170
|
|
NM_152564.5(VPS13B):c.6046+17del
|
|
|
NM_152564.5(VPS13B):c.6454+19del
|
rs772522395
|
|
NM_152564.5(VPS13B):c.6455-4del
|
rs398124337
|
|
NM_152564.5(VPS13B):c.6455-4dup
|
rs398124337
|
|
NM_152564.5(VPS13B):c.6455-5_6455-4dup
|
|
|
NM_152564.5(VPS13B):c.6658-13del
|
|
|
NM_152564.5(VPS13B):c.6658-13dup
|
|
|
NM_152564.5(VPS13B):c.6658-5dup
|
|
|
NM_152564.5(VPS13B):c.7051-13del
|
|
|
NM_152564.5(VPS13B):c.7429+14dup
|
rs747441995
|
|
NM_152564.5(VPS13B):c.762+19dup
|
rs770716174
|
|
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala)
|
|
|
NM_152564.5(VPS13B):c.7942-7dup
|
|
|
NM_152564.5(VPS13B):c.8446-5del
|
rs760534492
|
|
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)
|
rs549810522
|
|
NM_152564.5(VPS13B):c.8792+24dup
|
|
|
NM_152564.5(VPS13B):c.8994+16del
|
|
|
NM_152564.5(VPS13B):c.9331-98dup
|
rs68156520
|
|
NM_152564.5(VPS13B):c.9331-99_9331-98dup
|
rs68156520
|
|
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs)
|
rs757435621
|
|
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe)
|
rs199704158
|
|
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe)
|
rs752763935
|
|
NM_152564.5(VPS13B):c.9742+13C>T
|
rs112919682
|
|
NM_152564.5(VPS13B):c.9742+9dup
|
|
|
NM_152617.4(RNF168):c.378+26del
|
rs62798260
|
|
NM_152722.5(HEPACAM):c.*112G>T
|
rs10893303
|
|
NM_152722.5(HEPACAM):c.*1794GTTT[3]
|
rs560243987
|
|
NM_152743.4(BRAT1):c.1134+14G>A
|
rs372235478
|
|
NM_152743.4(BRAT1):c.1233G>A (p.Val411=)
|
rs556970046
|
|
NM_152743.4(BRAT1):c.1305G>T (p.Thr435=)
|
rs145506790
|
|
NM_152743.4(BRAT1):c.166G>A (p.Val56Met)
|
rs148548421
|
|
NM_152743.4(BRAT1):c.1931_1932delinsAG (p.Arg644Gln)
|
rs71531463
|
|
NM_152743.4(BRAT1):c.2169T>A (p.Leu723=)
|
rs150300694
|
|
NM_152743.4(BRAT1):c.283-10del
|
rs759971408
|
|
NM_152743.4(BRAT1):c.566G>T (p.Gly189Val)
|
rs531827528
|
|
NM_153026.3(PRICKLE1):c.373G>A (p.Val125Met)
|
|
|
NM_153026.3(PRICKLE1):c.588+10dup
|
rs766626651
|
|
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=)
|
rs139421676
|
|
NM_153033.4(KCTD7):c.*3935_*3937CAA[1]
|
rs35961913
|
|
NM_153033.5(KCTD7):c.*690G>C
|
rs4718382
|
|
NM_153033.5(KCTD7):c.-116C>T
|
rs551906037
|
|
NM_153252.5(BRWD3):c.*265AC[4]
|
rs35220611
|
|
NM_153252.5(BRWD3):c.*6331C>G
|
rs11266586
|
|
NM_153252.5(BRWD3):c.-229C>T
|
rs766658667
|
|
NM_153252.5(BRWD3):c.-239TC[6]
|
rs545281823
|
|
NM_153252.5(BRWD3):c.-283CT[8]
|
rs199953219
|
|
NM_153252.5(BRWD3):c.31+23dup
|
rs200402115
|
|
NM_153252.5(BRWD3):c.3602+15A>C
|
rs374172860
|
|
NM_153252.5(BRWD3):c.3865-119TA[9]
|
rs3029738
|
|
NM_153252.5(BRWD3):c.592-47_592-45dup
|
rs58601634
|
|
NM_171998.4(RAB39B):c.*1656=
|
rs3105275
|
|
NM_172107.4(KCNQ2):c.1118+1G>A
|
rs397507449
|
|
NM_172107.4(KCNQ2):c.1149-20del
|
rs2145637812
|
|
NM_172107.4(KCNQ2):c.1149-3del
|
|
|
NM_172107.4(KCNQ2):c.1302-11C>G
|
rs371007020
|
|
NM_172107.4(KCNQ2):c.1302-11C>T
|
rs371007020
|
|
NM_172107.4(KCNQ2):c.1302-19_1302-18insTGTCTGTT
|
rs765336709
|
|
NM_172107.4(KCNQ2):c.1302-29TGTC[4]
|
rs112006486
|
|
NM_172107.4(KCNQ2):c.1302-29TGTC[5]
|
rs112006486
|
|
NM_172107.4(KCNQ2):c.1302-29TGTC[6]
|
rs112006486
|
|
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)
|
rs1801545
|
|
NM_172107.4(KCNQ2):c.1526-3del
|
rs974502886
|
|
NM_172107.4(KCNQ2):c.1526-8dup
|
rs974502886
|
|
NM_172107.4(KCNQ2):c.1632-1G>T
|
rs118192233
|
|
NM_172107.4(KCNQ2):c.297-3del
|
rs2145790004
|
|
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=)
|
rs147882199
|
|
NM_173354.5(SIK1):c.1463-5del
|
rs1252502732
|
|
NM_173354.5(SIK1):c.1463-5dup
|
|
|
NM_173354.5(SIK1):c.1553C>T (p.Ala518Val)
|
rs142171557
|
|
NM_173354.5(SIK1):c.156+11dup
|
|
|
NM_173354.5(SIK1):c.156+18G>C
|
rs201427751
|
|
NM_173354.5(SIK1):c.1594G>T (p.Ala532Ser)
|
rs761551726
|
|
NM_173354.5(SIK1):c.1605G>A (p.Pro535=)
|
rs113434279
|
|
NM_173354.5(SIK1):c.1832A>G (p.Gln611Arg)
|
rs1243997625
|
|
NM_173354.5(SIK1):c.1976+15del
|
rs2146468542
|
|
NM_173354.5(SIK1):c.2108C>T (p.Thr703Met)
|
rs1308366748
|
|
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
|
|
|
NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg)
|
rs1227514074
|
|
NM_173354.5(SIK1):c.274-3del
|
rs550878772
|
|
NM_173354.5(SIK1):c.748+17C>T
|
rs75559179
|
|
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro)
|
rs56039839
|
|
NM_173500.4(TTBK2):c.2030C>G (p.Thr677Arg)
|
|
|
NM_173728.4(ARHGEF15):c.1944G>A (p.Arg648=)
|
rs201714597
|
|
NM_173728.4(ARHGEF15):c.2519C>A (p.Pro840Gln)
|
rs552154823
|
|
NM_177550.5(SLC13A5):c.-5G>C
|
rs201070767
|
|
NM_177550.5(SLC13A5):c.1157-68GT[18]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[20]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[21]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[22]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[24]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.1157-68GT[25]
|
rs200900896
|
|
NM_177550.5(SLC13A5):c.232-14G>A
|
rs551601158
|
|
NM_177550.5(SLC13A5):c.716+11_716+21del
|
rs554361040
|
|
NM_177924.5(ASAH1):c.1098+120T>G
|
rs420610
|
|
NM_177924.5(ASAH1):c.458-81T>A
|
rs7824650
|
|
NM_177924.5(ASAH1):c.79-50G>A
|
rs34482943
|
|
NM_178013.4(PRIMA1):c.99G>A (p.Thr33=)
|
rs4900195
|
|
NM_178138.6(LHX3):c.251+148T>C
|
rs1886296
|
|
NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)])
|
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
NM_182919.4(TICAM1):c.1078CCT[9] (p.Pro367dup)
|
rs11466722
|
|
NM_182919.4(TICAM1):c.204G>T (p.Ala68=)
|
rs376605000
|
|
NM_182961.4(SYNE1):c.*666_*667del
|
rs71660056
|
|
NM_182961.4(SYNE1):c.11254-31T>G
|
rs6932325
|
|
NM_182961.4(SYNE1):c.11581-15dup
|
rs5880967
|
|
NM_182961.4(SYNE1):c.11581-16_11581-15dup
|
rs5880967
|
|
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser)
|
rs386707192
|
|
NM_182961.4(SYNE1):c.1351-15del
|
|
|
NM_182961.4(SYNE1):c.16237-3del
|
rs752661566
|
|
NM_182961.4(SYNE1):c.16237-3dup
|
|
|
NM_182961.4(SYNE1):c.1632+11del
|
rs763013262
|
|
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=)
|
rs141380170
|
|
NM_182961.4(SYNE1):c.16896+20del
|
rs545568394
|
|
NM_182961.4(SYNE1):c.16896+9dup
|
rs761957607
|
|
NM_182961.4(SYNE1):c.17203-6del
|
rs55633181
|
|
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=)
|
rs201090220
|
|
NM_182961.4(SYNE1):c.18573+16G>A
|
rs368633364
|
|
NM_182961.4(SYNE1):c.19894-17T>A
|
rs542545053
|
|
NM_182961.4(SYNE1):c.20863-3dup
|
rs755011653
|
|
NM_182961.4(SYNE1):c.21523-8del
|
|
|
NM_182961.4(SYNE1):c.21523-8dup
|
rs761577958
|
|
NM_182961.4(SYNE1):c.225+14dup
|
|
|
NM_182961.4(SYNE1):c.2250+8del
|
|
|
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=)
|
rs910415
|
|
NM_182961.4(SYNE1):c.26095-17dup
|
|
|
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln)
|
rs2295192
|
|
NM_182961.4(SYNE1):c.310-506C>A
|
|
|
NM_182961.4(SYNE1):c.3670-14del
|
rs111322292
|
|
NM_182961.4(SYNE1):c.3670-14dup
|
rs111322292
|
|
NM_182961.4(SYNE1):c.4150-5dup
|
rs776033844
|
|
NM_182961.4(SYNE1):c.779-11dup
|
rs769649801
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|
NM_183075.3(CYP2U1):c.*132G>T
|
rs80203932
|
|
NM_198578.4(LRRK2):c.*148T>C
|
rs202205832
|
|
NM_198578.4(LRRK2):c.1095C>T (p.His365=)
|
|
|
NM_198578.4(LRRK2):c.1102-15del
|
|
|
NM_198578.4(LRRK2):c.1289-13T>A
|
|
|
NM_198578.4(LRRK2):c.1802-11del
|
rs200529791
|
|
NM_198578.4(LRRK2):c.1802-11dup
|
rs200529791
|
|
NM_198578.4(LRRK2):c.2501-9dup
|
rs36220740
|
|
NM_198578.4(LRRK2):c.2689+19_2689+20del
|
|
|
NM_198578.4(LRRK2):c.2689+19_2689+20dup
|
rs66810434
|
|
NM_198578.4(LRRK2):c.2689+20del
|
|
|
NM_198578.4(LRRK2):c.2689+20dup
|
rs66810434
|
|
NM_198578.4(LRRK2):c.2879-9del
|
rs766368406
|
|
NM_198578.4(LRRK2):c.3497-8del
|
rs201739149
|
|
NM_198578.4(LRRK2):c.3497-8dup
|
rs201739149
|
|
NM_198578.4(LRRK2):c.3778-10dup
|
|
|
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His)
|
rs7133914
|
|
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)
|
rs33949390
|
|
NM_198578.4(LRRK2):c.6141T>C (p.Asn2047=)
|
|
|
NM_198578.4(LRRK2):c.6281-3dup
|
rs780258764
|
|
NM_198578.4(LRRK2):c.6382-20T>C
|
|
|
NM_198578.4(LRRK2):c.6844-8dup
|
rs72546334
|
|
NM_198578.4(LRRK2):c.6844-9_6844-8dup
|
rs72546334
|
|
NM_198578.4(LRRK2):c.7029-16T>C
|
|
|
NM_198578.4(LRRK2):c.7029-9del
|
rs11317573
|
|
NM_198578.4(LRRK2):c.936G>T (p.Ala312=)
|
rs41286466
|
|
NM_198586.3(NHLRC1):c.*482C>G
|
rs114713758
|
|
NM_198586.3(NHLRC1):c.*55G>C
|
rs11966789
|
|
NM_198859.4(PRICKLE2):c.*4238C>T
|
rs14056
|
|
NM_198859.4(PRICKLE2):c.*579del
|
rs35195442
|
|
NM_198859.4(PRICKLE2):c.258+8del
|
|
|
NM_198904.4(GABRG2):c.840T>C (p.Tyr280=)
|
rs558779533
|
|
NM_198994.3(TGM6):c.-36T>C
|
rs371018532
|
|
NM_198994.3(TGM6):c.1198A>G (p.Ile400Val)
|
rs552530897
|
|
NM_198994.3(TGM6):c.1967+59AG[2]
|
rs60388755
|
|
NM_203446.3(SYNJ1):c.*186_*187insAATACT
|
rs57257560
|
|
NM_203446.3(SYNJ1):c.1001A>G (p.Asp334Gly)
|
rs2146090425
|
|
NM_203446.3(SYNJ1):c.125-6_125-5del
|
rs769191151
|
|
NM_203446.3(SYNJ1):c.1510+13T>A
|
rs75688000
|
|
NM_203446.3(SYNJ1):c.1510+16_1510+17del
|
rs138729271
|
|
NM_203446.3(SYNJ1):c.1812-16del
|
|
|
NM_203446.3(SYNJ1):c.3247+11del
|
|
|
NM_203446.3(SYNJ1):c.3479-18del
|
rs555916409
|
|
NM_203446.3(SYNJ1):c.3479-18dup
|
|
|
NM_203446.3(SYNJ1):c.3698-3del
|
|
|
NM_203446.3(SYNJ1):c.706-7del
|
rs202044634
|
|
NM_203446.3(SYNJ1):c.706-7dup
|
rs202044634
|
|
NM_203446.3(SYNJ1):c.949-9del
|
rs776238595
|
|
NM_205836.3(FBXO38):c.1739-4del
|
|
|
NM_205836.3(FBXO38):c.1739-4dup
|
|
|
NM_205836.3(FBXO38):c.2440G>T (p.Ala814Ser)
|
|
|
NM_205836.3(FBXO38):c.2857+21_2857+23del
|
rs143121025
|
|
NM_205836.3(FBXO38):c.3357C>T (p.Phe1119=)
|
rs577469242
|
|
NM_205836.3(FBXO38):c.731-5dup
|
rs201558003
|
|
NM_205836.3(FBXO38):c.731-6_731-5dup
|
rs201558003
|
|
NM_206809.4(MOG):c.88+18dup
|
rs749231725
|
|
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)
|
rs9153
|
|
NM_213720.3(CHCHD10):c.409+27G>C
|
rs140182
|
|
NR_002717.2(ATXN8OS):n.1103CTG[15_40]
|
|
|
Single allele
|
|
|