NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)
|
rs55916120
|
0.01802
|
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)
|
rs61731376
|
0.01088
|
NM_022489.4(INF2):c.1452T>C (p.Cys484=)
|
rs371775604
|
0.01071
|
NM_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
NM_001374736.1(DST):c.20997G>A (p.Leu6999=)
|
rs187652380
|
0.00781
|
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)
|
rs111527940
|
0.00755
|
NM_001374736.1(DST):c.13820C>A (p.Pro4607His)
|
rs138967674
|
0.00744
|
NM_001008212.2(OPTN):c.123G>A (p.Leu41=)
|
rs11591687
|
0.00729
|
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)
|
rs56379718
|
0.00681
|
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln)
|
rs52822694
|
0.00673
|
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His)
|
rs115423936
|
0.00567
|
NM_022489.4(INF2):c.879G>A (p.Ser293=)
|
rs184709736
|
0.00543
|
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)
|
rs113808165
|
0.00541
|
NM_022489.4(INF2):c.3108T>C (p.Leu1036=)
|
rs186075307
|
0.00532
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_006306.4(SMC1A):c.699G>A (p.Val233=)
|
rs145319852
|
0.00488
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
NM_022489.4(INF2):c.3069C>T (p.Pro1023=)
|
rs75382114
|
0.00477
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)
|
rs201323100
|
0.00470
|
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=)
|
rs116057134
|
0.00441
|
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=)
|
rs12480346
|
0.00414
|
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
|
rs35744605
|
0.00367
|
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=)
|
rs35877957
|
0.00353
|
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp)
|
rs34767818
|
0.00349
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)
|
rs201059992
|
0.00334
|
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)
|
rs116900568
|
0.00329
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_004990.4(MARS1):c.626G>A (p.Ser209Asn)
|
rs141671963
|
0.00327
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu)
|
rs7580439
|
0.00319
|
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
|
rs61731477
|
0.00306
|
NM_015662.3(IFT172):c.2551G>T (p.Val851Leu)
|
rs149748534
|
0.00304
|
NM_022489.4(INF2):c.3078C>T (p.Ser1026=)
|
rs377023270
|
0.00272
|
NM_018979.4(WNK1):c.5281-4G>A
|
rs72650740
|
0.00269
|
NM_213655.5(WNK1):c.2270C>T (p.Pro757Leu)
|
rs562247853
|
0.00263
|
NM_001374736.1(DST):c.14461A>C (p.Asn4821His)
|
rs139089184
|
0.00260
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)
|
rs138545198
|
0.00253
|
NM_022489.4(INF2):c.2433C>T (p.Ser811=)
|
rs140010249
|
0.00248
|
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp)
|
rs79327775
|
0.00247
|
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)
|
rs142528559
|
0.00233
|
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)
|
rs115985012
|
0.00228
|
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)
|
rs138183274
|
0.00227
|
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr)
|
rs73491901
|
0.00217
|
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp)
|
rs57105517
|
0.00209
|
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=)
|
rs41306796
|
0.00207
|
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu)
|
rs568623476
|
0.00202
|
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=)
|
rs149371169
|
0.00200
|
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=)
|
rs140048110
|
0.00195
|
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)
|
rs147674680
|
0.00185
|
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)
|
rs147449194
|
0.00181
|
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=)
|
rs72650721
|
0.00173
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_213655.5(WNK1):c.2659T>C (p.Leu887=)
|
rs72649855
|
0.00167
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)
|
rs184389316
|
0.00160
|
NM_022489.4(INF2):c.558C>T (p.Ser186=)
|
rs150714865
|
0.00158
|
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala)
|
rs151271595
|
0.00152
|
NM_022489.4(INF2):c.264C>T (p.Gly88=)
|
rs201587219
|
0.00150
|
NM_022489.4(INF2):c.1647A>G (p.Ala549=)
|
rs201674759
|
0.00143
|
NM_001374736.1(DST):c.21538A>G (p.Met7180Val)
|
rs200006386
|
0.00141
|
NM_004990.4(MARS1):c.801C>T (p.Leu267=)
|
rs151260441
|
0.00138
|
NM_022489.4(INF2):c.3612G>A (p.Ser1204=)
|
rs150811244
|
0.00134
|
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=)
|
rs3848671
|
0.00128
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln)
|
rs200369827
|
0.00126
|
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00122
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
NM_015512.5(DNAH1):c.10852T>C (p.Tyr3618His)
|
rs199603472
|
0.00121
|
NM_000475.5(NR0B1):c.16C>A (p.His6Asn)
|
rs191365011
|
0.00118
|
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)
|
rs144832179
|
0.00116
|
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys)
|
rs201593594
|
0.00116
|
NM_018238.4(AGK):c.803C>A (p.Thr268Asn)
|
rs142779190
|
0.00115
|
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp)
|
rs193252082
|
0.00107
|
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys)
|
rs180765536
|
0.00102
|
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp)
|
rs199873407
|
0.00098
|
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val)
|
rs147099510
|
0.00096
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)
|
rs199628430
|
0.00095
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)
|
rs148391179
|
0.00091
|
NM_001370466.1(NOD2):c.552C>T (p.Ala184=)
|
rs5743269
|
0.00090
|
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)
|
rs151032299
|
0.00088
|
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=)
|
rs12625047
|
0.00086
|
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)
|
rs149388376
|
0.00086
|
NM_002334.4(LRP4):c.257G>A (p.Arg86His)
|
rs138239756
|
0.00083
|
NM_004990.4(MARS1):c.1812G>A (p.Gly604=)
|
rs117633211
|
0.00083
|
NM_004990.4(MARS1):c.477C>T (p.Pro159=)
|
rs117101415
|
0.00083
|
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe)
|
rs186422070
|
0.00083
|
NM_020458.4(TTC7A):c.1138G>A (p.Ala380Thr)
|
rs115479276
|
0.00082
|
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=)
|
rs115030322
|
0.00081
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile)
|
rs6755258
|
0.00076
|
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)
|
rs79324540
|
0.00076
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)
|
rs547860186
|
0.00072
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=)
|
rs370427146
|
0.00071
|
NM_004990.4(MARS1):c.1689C>T (p.Val563=)
|
rs117833843
|
0.00071
|
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met)
|
rs148201608
|
0.00070
|
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_004990.4(MARS1):c.2391A>C (p.Thr797=)
|
rs140573721
|
0.00068
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)
|
rs146851019
|
0.00066
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)
|
rs189762594
|
0.00063
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588
|
0.00063
|
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)
|
rs146042595
|
0.00062
|
NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly)
|
rs79909102
|
0.00061
|
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala)
|
rs142543401
|
0.00061
|
NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln)
|
rs550716144
|
0.00061
|
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)
|
rs150526992
|
0.00060
|
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
|
rs200682458
|
0.00059
|
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)
|
rs187453572
|
0.00059
|
NM_001374736.1(DST):c.2042G>A (p.Arg681His)
|
rs143101723
|
0.00058
|
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)
|
rs72647372
|
0.00058
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)
|
rs143948239
|
0.00057
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys)
|
rs139661803
|
0.00052
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353
|
0.00051
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_018979.4(WNK1):c.2336C>T (p.Ala779Val)
|
rs141428612
|
0.00050
|
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787
|
0.00049
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)
|
rs187264529
|
0.00048
|
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)
|
rs370388701
|
0.00048
|
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly)
|
rs201077878
|
0.00048
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)
|
rs139648092
|
0.00047
|
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln)
|
rs199801767
|
0.00047
|
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)
|
rs142304943
|
0.00046
|
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)
|
rs142409945
|
0.00046
|
NM_213655.5(WNK1):c.2995C>G (p.Leu999Val)
|
rs72649856
|
0.00046
|
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
|
rs72650720
|
0.00045
|
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln)
|
rs376811907
|
0.00045
|
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)
|
rs202047865
|
0.00043
|
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)
|
rs146877597
|
0.00043
|
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)
|
rs376220834
|
0.00043
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)
|
rs201852681
|
0.00042
|
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)
|
rs200606811
|
0.00042
|
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln)
|
rs143400113
|
0.00041
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)
|
rs199550149
|
0.00041
|
NM_001382.4(DPAGT1):c.729-4A>C
|
rs199873583
|
0.00041
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
|
rs145260922
|
0.00040
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
NM_001374736.1(DST):c.2125A>G (p.Met709Val)
|
rs142650835
|
0.00039
|
NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val)
|
rs770568108
|
0.00039
|
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)
|
rs184878897
|
0.00039
|
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)
|
rs201374999
|
0.00038
|
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser)
|
rs200409290
|
0.00038
|
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser)
|
rs187225648
|
0.00038
|
NM_022489.4(INF2):c.1773C>T (p.Asp591=)
|
rs201853087
|
0.00038
|
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)
|
rs371939448
|
0.00037
|
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln)
|
rs150428018
|
0.00037
|
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)
|
rs143834546
|
0.00037
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr)
|
rs200520956
|
0.00036
|
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser)
|
rs760986113
|
0.00036
|
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)
|
rs78644690
|
0.00035
|
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)
|
rs185171880
|
0.00035
|
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)
|
rs184585202
|
0.00034
|
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)
|
rs144953114
|
0.00034
|
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)
|
rs201756175
|
0.00034
|
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)
|
rs200289289
|
0.00033
|
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr)
|
rs374299911
|
0.00033
|
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr)
|
rs776370351
|
0.00033
|
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=)
|
rs188479221
|
0.00032
|
NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr)
|
rs200003693
|
0.00032
|
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=)
|
rs61736622
|
0.00032
|
NM_018979.4(WNK1):c.5741T>C (p.Ile1914Thr)
|
rs184764148
|
0.00032
|
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)
|
rs200226466
|
0.00031
|
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)
|
rs199553777
|
0.00031
|
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)
|
rs147026512
|
0.00031
|
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)
|
rs369466577
|
0.00031
|
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg)
|
rs200813987
|
0.00031
|
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val)
|
rs368835582
|
0.00031
|
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)
|
rs148970081
|
0.00031
|
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)
|
rs186370335
|
0.00030
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)
|
rs35281104
|
0.00029
|
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)
|
rs190746040
|
0.00029
|
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)
|
rs756943416
|
0.00027
|
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp)
|
rs199693105
|
0.00027
|
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly)
|
rs782051125
|
0.00026
|
NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)
|
rs140920120
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu)
|
rs200979623
|
0.00026
|
NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys)
|
rs201766777
|
0.00026
|
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)
|
rs372091476
|
0.00026
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln)
|
rs782349186
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly)
|
rs369218541
|
0.00024
|
NM_015662.3(IFT172):c.3711+3G>A
|
rs202055593
|
0.00024
|
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu)
|
rs372367313
|
0.00024
|
NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu)
|
rs201042606
|
0.00024
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)
|
rs201682415
|
0.00022
|
NM_018979.4(WNK1):c.2290A>G (p.Thr764Ala)
|
rs143890340
|
0.00022
|
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro)
|
rs200234585
|
0.00022
|
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn)
|
rs371925462
|
0.00022
|
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg)
|
rs200606995
|
0.00022
|
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=)
|
rs75961715
|
0.00021
|
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)
|
rs112355069
|
0.00021
|
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)
|
rs144978163
|
0.00021
|
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)
|
rs137906877
|
0.00021
|
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)
|
rs59103647
|
0.00021
|
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)
|
rs776917693
|
0.00020
|
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)
|
rs72650764
|
0.00020
|
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)
|
rs782307200
|
0.00019
|
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=)
|
rs148670169
|
0.00019
|
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)
|
rs200826539
|
0.00019
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)
|
rs147952638
|
0.00019
|
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)
|
rs139524110
|
0.00019
|
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)
|
rs368995122
|
0.00019
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
NM_005045.4(RELN):c.2125A>G (p.Met709Val)
|
rs114577182
|
0.00018
|
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)
|
rs376935647
|
0.00018
|
NM_005219.5(DIAPH1):c.301-5C>T
|
rs190481949
|
0.00017
|
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)
|
rs138274490
|
0.00017
|
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)
|
rs377714939
|
0.00016
|
NM_000240.4(MAOA):c.1248G>A (p.Met416Ile)
|
rs772161607
|
0.00016
|
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)
|
rs201263814
|
0.00016
|
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)
|
rs202002028
|
0.00016
|
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
|
rs200011880
|
0.00016
|
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)
|
rs200334446
|
0.00016
|
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp)
|
rs202166176
|
0.00016
|
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp)
|
rs771719773
|
0.00016
|
NM_022489.4(INF2):c.2053A>G (p.Ile685Val)
|
rs199526439
|
0.00016
|
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)
|
rs200373970
|
0.00015
|
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)
|
rs199707920
|
0.00015
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His)
|
rs200724225
|
0.00015
|
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)
|
rs533208785
|
0.00015
|
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)
|
rs149315236
|
0.00014
|
NM_001370466.1(NOD2):c.1118C>T (p.Pro373Leu)
|
rs779346494
|
0.00014
|
NM_005045.4(RELN):c.1013T>G (p.Val338Gly)
|
rs200513558
|
0.00014
|
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)
|
rs116634494
|
0.00014
|
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr)
|
rs139225791
|
0.00014
|
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)
|
rs146450828
|
0.00014
|
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser)
|
rs535609762
|
0.00014
|
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=)
|
rs368201539
|
0.00014
|
NM_022089.4(ATP13A2):c.106-5C>T
|
rs117838709
|
0.00014
|
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)
|
rs201610681
|
0.00014
|
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys)
|
rs4983379
|
0.00014
|
NM_022489.4(INF2):c.3684G>A (p.Arg1228=)
|
rs189263181
|
0.00014
|
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)
|
rs142889209
|
0.00013
|
NM_005045.4(RELN):c.1708C>G (p.His570Asp)
|
rs374546580
|
0.00013
|
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)
|
rs201379287
|
0.00013
|
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu)
|
rs748980218
|
0.00013
|
NM_022489.4(INF2):c.1755G>A (p.Ala585=)
|
rs375573206
|
0.00013
|
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_001374736.1(DST):c.3853A>G (p.Asn1285Asp)
|
rs201419873
|
0.00012
|
NM_005045.4(RELN):c.7268G>A (p.Arg2423His)
|
rs140660860
|
0.00012
|
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)
|
rs369863178
|
0.00012
|
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)
|
rs767748953
|
0.00012
|
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala)
|
rs761749382
|
0.00011
|
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln)
|
rs782320818
|
0.00011
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)
|
rs373210484
|
0.00011
|
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)
|
rs201076024
|
0.00011
|
NM_001972.4(ELANE):c.472C>G (p.Leu158Val)
|
rs535990034
|
0.00011
|
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)
|
rs199593058
|
0.00011
|
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn)
|
rs558571598
|
0.00011
|
NM_005360.5(MAF):c.460G>A (p.Gly154Ser)
|
rs1022938471
|
0.00011
|
NM_020458.4(TTC7A):c.1070C>G (p.Thr357Ser)
|
rs200443615
|
0.00011
|
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met)
|
rs60040113
|
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_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)
|
rs370421723
|
0.00011
|
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)
|
rs374424323
|
0.00011
|
NM_032415.7(CARD11):c.3113C>T (p.Ala1038Val)
|
rs374682435
|
0.00011
|
NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys)
|
rs200794710
|
0.00011
|
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)
|
rs377073379
|
0.00011
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)
|
rs140479817
|
0.00010
|
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)
|
rs781881872
|
0.00010
|
NM_004990.4(MARS1):c.1360C>T (p.Leu454=)
|
rs139002397
|
0.00010
|
NM_015512.5(DNAH1):c.4396C>T (p.Leu1466Phe)
|
rs368608665
|
0.00010
|
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)
|
rs377340315
|
0.00010
|
NM_170784.3(MKKS):c.926G>A (p.Arg309His)
|
rs199939179
|
0.00010
|
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)
|
rs191582628
|
0.00010
|
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)
|
rs201999500
|
0.00009
|
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)
|
rs371940681
|
0.00009
|
NM_001008212.2(OPTN):c.1401+4A>G
|
rs371470839
|
0.00009
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)
|
rs143885868
|
0.00009
|
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)
|
rs200083866
|
0.00009
|
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)
|
rs200648767
|
0.00009
|
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)
|
rs200167099
|
0.00009
|
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
|
rs772759631
|
0.00009
|
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
|
rs140466726
|
0.00009
|
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu)
|
rs759895083
|
0.00009
|
NM_020458.4(TTC7A):c.1570G>T (p.Ala524Ser)
|
rs201008860
|
0.00009
|
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met)
|
rs151117874
|
0.00009
|
NM_022489.4(INF2):c.1197C>T (p.His399=)
|
rs746493706
|
0.00009
|
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp)
|
rs376451593
|
0.00009
|
NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val)
|
rs187534119
|
0.00009
|
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr)
|
rs373000965
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001365536.1(SCN9A):c.213G>A (p.Val71=)
|
rs200240989
|
0.00008
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
NM_018979.4(WNK1):c.4130T>A (p.Val1377Glu)
|
rs574069625
|
0.00008
|
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)
|
rs566918264
|
0.00008
|
NM_022489.4(INF2):c.3157G>A (p.Val1053Met)
|
rs760721935
|
0.00008
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)
|
rs561421783
|
0.00007
|
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)
|
rs373914077
|
0.00007
|
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)
|
rs373011926
|
0.00007
|
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)
|
rs186328815
|
0.00007
|
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)
|
rs778753999
|
0.00007
|
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val)
|
rs752510907
|
0.00007
|
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)
|
rs539324457
|
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.6611C>T (p.Ala2204Val)
|
rs763675499
|
0.00007
|
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe)
|
rs201577113
|
0.00007
|
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)
|
rs367745335
|
0.00007
|
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)
|
rs377431904
|
0.00007
|
NM_022489.4(INF2):c.1304C>T (p.Ala435Val)
|
rs777455096
|
0.00007
|
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
|
rs369984449
|
0.00007
|
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)
|
rs369987125
|
0.00007
|
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)
|
rs374353973
|
0.00007
|
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)
|
rs782166627
|
0.00006
|
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser)
|
rs368147403
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000146.4(FTL):c.155T>G (p.Phe52Cys)
|
rs543242420
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
NM_001166108.2(PALLD):c.2084T>G (p.Leu695Arg)
|
rs139375029
|
0.00006
|
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)
|
rs553479685
|
0.00006
|
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)
|
rs201875421
|
0.00006
|
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp)
|
rs186788522
|
0.00006
|
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile)
|
rs200865355
|
0.00006
|
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)
|
rs200819563
|
0.00006
|
NM_004990.4(MARS1):c.1540-3C>T
|
rs372013808
|
0.00006
|
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
|
rs139600659
|
0.00006
|
NM_005045.4(RELN):c.1669T>G (p.Phe557Val)
|
rs757726526
|
0.00006
|
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly)
|
rs565236668
|
0.00006
|
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)
|
rs200175704
|
0.00006
|
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)
|
rs370903625
|
0.00006
|
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser)
|
rs756614581
|
0.00006
|
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)
|
rs201995891
|
0.00006
|
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser)
|
rs147702970
|
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.3581G>A (p.Arg1194Gln)
|
rs759668583
|
0.00006
|
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)
|
rs375017750
|
0.00006
|
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)
|
rs554063452
|
0.00006
|
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met)
|
rs755669926
|
0.00006
|
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val)
|
rs147260398
|
0.00006
|
NM_022489.4(INF2):c.2755C>G (p.Leu919Val)
|
rs377145979
|
0.00006
|
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val)
|
rs368372551
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_139058.3(ARX):c.1170C>T (p.Gly390=)
|
rs761632870
|
0.00006
|
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)
|
rs759112760
|
0.00006
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)
|
rs782682493
|
0.00005
|
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
|
rs199510538
|
0.00005
|
NM_001166108.2(PALLD):c.229G>C (p.Glu77Gln)
|
rs376732578
|
0.00005
|
NM_001291867.2(NHS):c.152C>T (p.Ala51Val)
|
rs727504039
|
0.00005
|
NM_001374736.1(DST):c.2860-4G>C
|
rs370134977
|
0.00005
|
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)
|
rs146362081
|
0.00005
|
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
|
rs201996851
|
0.00005
|
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)
|
rs200870100
|
0.00005
|
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
rs776411681
|
0.00005
|
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala)
|
rs200083101
|
0.00005
|
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp)
|
rs56262445
|
0.00005
|
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu)
|
rs768197900
|
0.00005
|
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)
|
rs199920661
|
0.00005
|
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His)
|
rs373762102
|
0.00005
|
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly)
|
rs200939989
|
0.00005
|
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr)
|
rs377186549
|
0.00005
|
NM_022489.4(INF2):c.1587C>T (p.Pro529=)
|
rs755649066
|
0.00005
|
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)
|
rs543636524
|
0.00004
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)
|
rs782371735
|
0.00004
|
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)
|
rs782555986
|
0.00004
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)
|
rs1346115955
|
0.00004
|
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)
|
rs545613984
|
0.00004
|
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met)
|
rs201560152
|
0.00004
|
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)
|
rs570167996
|
0.00004
|
NM_004281.4(BAG3):c.926G>A (p.Arg309Gln)
|
rs774137001
|
0.00004
|
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)
|
rs572007088
|
0.00004
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)
|
rs778155362
|
0.00004
|
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)
|
rs369360559
|
0.00004
|
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)
|
rs746453262
|
0.00004
|
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)
|
rs771016864
|
0.00004
|
NM_005045.4(RELN):c.6169C>G (p.Leu2057Val)
|
rs764185528
|
0.00004
|
NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala)
|
rs371476408
|
0.00004
|
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu)
|
rs183497403
|
0.00004
|
NM_018238.4(AGK):c.55C>T (p.Leu19Phe)
|
rs367844999
|
0.00004
|
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu)
|
rs768622577
|
0.00004
|
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala)
|
rs758763241
|
0.00004
|
NM_020458.4(TTC7A):c.1603A>T (p.Ile535Phe)
|
rs749071692
|
0.00004
|
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys)
|
rs528341556
|
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.3338C>T (p.Pro1113Leu)
|
rs753159318
|
0.00004
|
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp)
|
rs372472186
|
0.00004
|
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His)
|
rs749122105
|
0.00004
|
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=)
|
rs771972820
|
0.00004
|
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln)
|
rs772785163
|
0.00004
|
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg)
|
rs369329819
|
0.00004
|
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)
|
rs747785443
|
0.00004
|
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)
|
rs567287489
|
0.00004
|
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)
|
rs768674400
|
0.00004
|
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)
|
rs562519835
|
0.00004
|
NM_022489.4(INF2):c.1147G>A (p.Val383Met)
|
rs780689756
|
0.00004
|
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)
|
rs372333024
|
0.00004
|
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)
|
rs772557416
|
0.00004
|
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)
|
rs375390523
|
0.00004
|
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp)
|
rs942393807
|
0.00004
|
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)
|
rs780428043
|
0.00004
|
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
|
rs758548498
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly)
|
rs370343584
|
0.00004
|
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)
|
rs374211312
|
0.00004
|
NM_000044.6(AR):c.2659A>G (p.Met887Val)
|
rs755226547
|
0.00003
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
0.00003
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
rs774971794
|
0.00003
|
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)
|
rs782636781
|
0.00003
|
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)
|
rs201009485
|
0.00003
|
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr)
|
rs782158357
|
0.00003
|
NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala)
|
rs368441729
|
0.00003
|
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His)
|
rs754727069
|
0.00003
|
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)
|
rs201481698
|
0.00003
|
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=)
|
rs121908916
|
0.00003
|
NM_001374736.1(DST):c.16609-1G>T
|
rs766657292
|
0.00003
|
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)
|
rs1469272964
|
0.00003
|
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu)
|
rs147952898
|
0.00003
|
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)
|
rs373637483
|
0.00003
|
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)
|
rs200125060
|
0.00003
|
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)
|
rs373216375
|
0.00003
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
NM_005045.4(RELN):c.6079G>A (p.Val2027Ile)
|
rs753782715
|
0.00003
|
NM_005045.4(RELN):c.850G>A (p.Val284Met)
|
rs149397714
|
0.00003
|
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp)
|
rs374174345
|
0.00003
|
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)
|
rs756488394
|
0.00003
|
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala)
|
rs181190579
|
0.00003
|
NM_015512.5(DNAH1):c.7978G>A (p.Val2660Ile)
|
rs768620121
|
0.00003
|
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)
|
rs769180655
|
0.00003
|
NM_018979.4(WNK1):c.3935G>A (p.Arg1312His)
|
rs375565845
|
0.00003
|
NM_021098.3(CACNA1H):c.1284G>T (p.Arg428=)
|
rs771004922
|
0.00003
|
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)
|
rs574809183
|
0.00003
|
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu)
|
rs373190026
|
0.00003
|
NM_021098.3(CACNA1H):c.3388G>A (p.Ala1130Thr)
|
rs772745734
|
0.00003
|
NM_021098.3(CACNA1H):c.6038T>C (p.Leu2013Pro)
|
rs905456471
|
0.00003
|
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys)
|
rs774769004
|
0.00003
|
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln)
|
rs775972605
|
0.00003
|
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=)
|
rs770821118
|
0.00003
|
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)
|
rs541385523
|
0.00003
|
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=)
|
rs781135190
|
0.00003
|
NM_022168.4(IFIH1):c.2305-2A>G
|
rs199696786
|
0.00003
|
NM_022489.4(INF2):c.2310C>T (p.Tyr770=)
|
rs758454108
|
0.00003
|
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln)
|
rs372129830
|
0.00003
|
NM_022489.4(INF2):c.2804C>T (p.Ala935Val)
|
rs781494318
|
0.00003
|
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
|
rs747569209
|
0.00003
|
NM_022489.4(INF2):c.3520G>A (p.Glu1174Lys)
|
rs755527335
|
0.00003
|
NM_022489.4(INF2):c.580G>A (p.Val194Met)
|
rs368298329
|
0.00003
|
NM_025114.4(CEP290):c.6523-6T>C
|
rs794727692
|
0.00003
|
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)
|
rs781952393
|
0.00002
|
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)
|
rs146119866
|
0.00002
|
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)
|
rs374154862
|
0.00002
|
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)
|
rs1557238006
|
0.00002
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)
|
rs782428979
|
0.00002
|
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)
|
rs782232632
|
0.00002
|
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser)
|
rs899627353
|
0.00002
|
NM_000377.3(WAS):c.1049C>T (p.Ala350Val)
|
rs1307143057
|
0.00002
|
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp)
|
rs780820166
|
0.00002
|
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile)
|
rs727503048
|
0.00002
|
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys)
|
rs782580568
|
0.00002
|
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)
|
rs953454766
|
0.00002
|
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile)
|
rs377518545
|
0.00002
|
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp)
|
rs574768683
|
0.00002
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
|
rs750421791
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)
|
rs200185692
|
0.00002
|
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg)
|
rs367819045
|
0.00002
|
NM_001370466.1(NOD2):c.2767A>C (p.Met923Leu)
|
rs527892258
|
0.00002
|
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala)
|
rs755046298
|
0.00002
|
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)
|
rs770324764
|
0.00002
|
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)
|
rs761818931
|
0.00002
|
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)
|
rs373583477
|
0.00002
|
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)
|
rs1033545876
|
0.00002
|
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)
|
rs1453508139
|
0.00002
|
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)
|
rs771110521
|
0.00002
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp)
|
rs115831287
|
0.00002
|
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)
|
rs780325204
|
0.00002
|
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala)
|
rs140090640
|
0.00002
|
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)
|
rs371614773
|
0.00002
|
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu)
|
rs778861276
|
0.00002
|
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)
|
rs531238169
|
0.00002
|
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)
|
rs759068569
|
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.1421G>A (p.Arg474His)
|
rs769636919
|
0.00002
|
NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu)
|
rs768306211
|
0.00002
|
NM_021098.3(CACNA1H):c.3185C>T (p.Pro1062Leu)
|
rs1245328322
|
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.563T>C (p.Leu188Ser)
|
rs767275498
|
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.6838C>T (p.Pro2280Ser)
|
rs760918600
|
0.00002
|
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val)
|
rs543531903
|
0.00002
|
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)
|
rs1356183663
|
0.00002
|
NM_022489.4(INF2):c.1615G>A (p.Val539Met)
|
rs769014945
|
0.00002
|
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)
|
rs752971046
|
0.00002
|
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
|
rs201292830
|
0.00002
|
NM_022489.4(INF2):c.3080C>T (p.Thr1027Met)
|
rs760488958
|
0.00002
|
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs)
|
rs763988639
|
0.00002
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
NM_213599.3(ANO5):c.53A>G (p.Asn18Ser)
|
rs1010958758
|
0.00002
|
NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr)
|
rs763686798
|
0.00002
|
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
|
rs1227094533
|
0.00001
|
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
|
rs368355216
|
0.00001
|
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)
|
rs1557234412
|
0.00001
|
NM_000052.7(ATP7A):c.1947-5A>G
|
rs1557234466
|
0.00001
|
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
|
rs2234936
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)
|
rs2077837721
|
0.00001
|
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)
|
rs782026169
|
0.00001
|
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
|
rs782664232
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)
|
rs782799150
|
0.00001
|
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)
|
rs782146244
|
0.00001
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
0.00001
|
NM_000124.4(ERCC6):c.1398-2A>G
|
rs1317145066
|
0.00001
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_001008212.2(OPTN):c.447G>A (p.Arg149=)
|
rs555741399
|
0.00001
|
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
0.00001
|
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys)
|
rs782307604
|
0.00001
|
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu)
|
rs782359458
|
0.00001
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)
|
rs781788290
|
0.00001
|
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile)
|
rs782190081
|
0.00001
|
NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys)
|
rs1557175308
|
0.00001
|
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=)
|
rs749232409
|
0.00001
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)
|
rs756181906
|
0.00001
|
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)
|
rs773095683
|
0.00001
|
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr)
|
rs773397014
|
0.00001
|
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)
|
rs201990547
|
0.00001
|
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)
|
rs200876333
|
0.00001
|
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)
|
rs753007435
|
0.00001
|
NM_001374736.1(DST):c.1872T>G (p.Ser624=)
|
rs994026153
|
0.00001
|
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg)
|
rs904996327
|
0.00001
|
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)
|
rs1301940016
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001458.5(FLNC):c.1169A>G (p.Asn390Ser)
|
rs188905854
|
0.00001
|
NM_001458.5(FLNC):c.2287C>T (p.His763Tyr)
|
rs1380984220
|
0.00001
|
NM_001458.5(FLNC):c.3268G>T (p.Ala1090Ser)
|
rs760158891
|
0.00001
|
NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu)
|
rs755832014
|
0.00001
|
NM_001458.5(FLNC):c.6572C>T (p.Thr2191Met)
|
rs768329311
|
0.00001
|
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)
|
rs370293647
|
0.00001
|
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser)
|
rs757655633
|
0.00001
|
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
|
rs750896639
|
0.00001
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)
|
rs201343487
|
0.00001
|
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)
|
rs772979149
|
0.00001
|
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)
|
rs764448554
|
0.00001
|
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)
|
rs778941390
|
0.00001
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)
|
rs730880089
|
0.00001
|
NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr)
|
rs1415854040
|
0.00001
|
NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys)
|
rs781462684
|
0.00001
|
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile)
|
rs1173899198
|
0.00001
|
NM_005045.4(RELN):c.1796G>A (p.Arg599His)
|
rs201371180
|
0.00001
|
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu)
|
rs896069835
|
0.00001
|
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)
|
rs587780439
|
0.00001
|
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu)
|
rs766384576
|
0.00001
|
NM_005045.4(RELN):c.589A>G (p.Ser197Gly)
|
rs756193988
|
0.00001
|
NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro)
|
rs1190177632
|
0.00001
|
NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu)
|
rs755660948
|
0.00001
|
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys)
|
rs750252271
|
0.00001
|
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met)
|
rs773243948
|
0.00001
|
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys)
|
rs746125273
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His)
|
rs771334638
|
0.00001
|
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)
|
rs767714019
|
0.00001
|
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)
|
rs771104054
|
0.00001
|
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)
|
rs761312526
|
0.00001
|
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)
|
rs993687029
|
0.00001
|
NM_018979.4(WNK1):c.397G>A (p.Val133Ile)
|
rs753342253
|
0.00001
|
NM_018979.4(WNK1):c.4270A>G (p.Ile1424Val)
|
rs752331641
|
0.00001
|
NM_018979.4(WNK1):c.5584-5A>G
|
rs771801197
|
0.00001
|
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu)
|
rs1481524583
|
0.00001
|
NM_021098.3(CACNA1H):c.1684C>G (p.Pro562Ala)
|
rs1474486162
|
0.00001
|
NM_021098.3(CACNA1H):c.1765G>A (p.Ala589Thr)
|
rs769240762
|
0.00001
|
NM_021098.3(CACNA1H):c.1913G>T (p.Gly638Val)
|
rs771036445
|
0.00001
|
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His)
|
rs764071122
|
0.00001
|
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg)
|
rs772258959
|
0.00001
|
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser)
|
rs367594144
|
0.00001
|
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu)
|
rs756181994
|
0.00001
|
NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val)
|
rs59950911
|
0.00001
|
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg)
|
rs1357838162
|
0.00001
|
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg)
|
rs754154177
|
0.00001
|
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala)
|
rs1025586071
|
0.00001
|
NM_021098.3(CACNA1H):c.6474G>A (p.Ala2158=)
|
rs747394862
|
0.00001
|
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val)
|
rs776161185
|
0.00001
|
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln)
|
rs749305814
|
0.00001
|
NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile)
|
rs997846742
|
0.00001
|
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)
|
rs764435162
|
0.00001
|
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)
|
rs368423685
|
0.00001
|
NM_022489.4(INF2):c.1067C>T (p.Ala356Val)
|
rs375622503
|
0.00001
|
NM_022489.4(INF2):c.1097A>G (p.Gln366Arg)
|
rs747903915
|
0.00001
|
NM_022489.4(INF2):c.1189G>A (p.Val397Met)
|
rs771775245
|
0.00001
|
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)
|
rs368948089
|
0.00001
|
NM_022489.4(INF2):c.2390G>A (p.Arg797His)
|
rs200261709
|
0.00001
|
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)
|
rs376094545
|
0.00001
|
NM_022489.4(INF2):c.2776-5T>C
|
rs1442200771
|
0.00001
|
NM_022489.4(INF2):c.3041-4C>T
|
rs945997134
|
0.00001
|
NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg)
|
rs762689516
|
0.00001
|
NM_022489.4(INF2):c.3224G>A (p.Arg1075His)
|
rs370169829
|
0.00001
|
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)
|
rs778879482
|
0.00001
|
NM_022489.4(INF2):c.3737G>C (p.Cys1246Ser)
|
rs555680535
|
0.00001
|
NM_022489.4(INF2):c.651G>A (p.Leu217=)
|
rs780516674
|
0.00001
|
NM_022489.4(INF2):c.733C>G (p.Leu245Val)
|
rs765986755
|
0.00001
|
NM_022489.4(INF2):c.787T>G (p.Ser263Ala)
|
rs1364540701
|
0.00001
|
NM_022489.4(INF2):c.839A>G (p.His280Arg)
|
rs759115381
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_032415.7(CARD11):c.715A>G (p.Met239Val)
|
rs541337893
|
0.00001
|
NM_170784.3(MKKS):c.251_252del (p.His84fs)
|
rs756259125
|
0.00001
|
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)
|
rs542541060
|
0.00001
|
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
|
|
|
NM_000052.7(ATP7A):c.121-2del
|
rs1287511385
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
|
|
|
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
|
|
|
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
|
|
|
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
|
|
|
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
|
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)
|
rs72658129
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)
|
rs1554398396
|
|
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)
|
rs794728325
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
|
|
|
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
|
|
|
NM_000377.3(WAS):c.765G>C (p.Gln255His)
|
|
|
NM_000414.4(HSD17B4):c.1901G>A (p.Arg634His)
|
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
|
|
|
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
|
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys)
|
rs1553923787
|
|
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
|
rs113955718
|
|
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
|
|
|
NM_001018113.3(FANCB):c.1105-26TATT[4]
|
rs398123537
|
|
NM_001080477.4(TENM3):c.1441G>A (p.Gly481Ser)
|
|
|
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)
|
rs121909123
|
|
NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)
|
|
|
NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu)
|
|
|
NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg)
|
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)
|
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])
|
rs761918906
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
|
|
|
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn)
|
rs757926043
|
|
NM_001283009.2(RTEL1):c.1266+3_1266+80del
|
rs2090574236
|
|
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
|
|
|
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser)
|
rs761268803
|
|
NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)
|
|
|
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser)
|
rs1046295138
|
|
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=)
|
rs6062495
|
|
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His)
|
rs764244331
|
|
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
NM_001374736.1(DST):c.14311-6T>G
|
|
|
NM_001374736.1(DST):c.14441-7_14441-6del
|
rs773495985
|
|
NM_001374736.1(DST):c.23195-6C>T
|
|
|
NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)
|
|
|
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs)
|
rs769407804
|
|
NM_001614.5(ACTG1):c.124-6C>T
|
|
|
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln)
|
rs150549869
|
|
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser)
|
rs764138752
|
|
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
|
|
|
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)
|
|
|
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
|
rs202213873
|
|
NM_002609.4(PDGFRB):c.2129C>T (p.Pro710Leu)
|
|
|
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
|
|
|
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
|
|
|
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
|
|
|
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
|
|
|
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
|
|
|
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup)
|
rs113070757
|
|
NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser)
|
rs766330561
|
|
NM_003900.5(SQSTM1):c.1166-14_1166-11del
|
rs538853972
|
|
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
|
|
|
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)
|
rs577784031
|
|
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)
|
rs574863380
|
|
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
|
|
|
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)
|
rs762021815
|
|
NM_004370.6(COL12A1):c.6067+1G>A
|
rs1766265062
|
|
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
|
|
|
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)
|
rs1424010902
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
NM_004380.3(CREBBP):c.3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3370-5_3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)
|
rs146887252
|
|
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)
|
rs1561690890
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
NM_004484.4(GPC3):c.338-5del
|
rs370737647
|
|
NM_004990.4(MARS1):c.1294-5C>T
|
rs149946100
|
|
NM_004990.4(MARS1):c.212del (p.Leu71fs)
|
rs751080704
|
|
NM_004990.4(MARS1):c.2392-5dup
|
|
|
NM_004990.4(MARS1):c.659del (p.Pro220fs)
|
rs777370844
|
|
NM_004990.4(MARS1):c.873C>T (p.Ala291=)
|
rs79531790
|
|
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs)
|
rs1555166943
|
|
NM_005045.4(RELN):c.1379A>C (p.Lys460Thr)
|
rs779530655
|
|
NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln)
|
rs372887562
|
|
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)
|
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
|
|
|
NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg)
|
rs73714410
|
|
NM_005188.4(CBL):c.1096-1G>C
|
rs397517076
|
|
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)
|
rs761912885
|
|
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup)
|
rs887468453
|
|
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
|
|
|
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr)
|
rs794726861
|
|
NM_015512.5(DNAH1):c.1114G>A (p.Ala372Thr)
|
|
|
NM_015512.5(DNAH1):c.9752A>G (p.Asn3251Ser)
|
|
|
NM_016356.5(DCDC2):c.543C>A (p.Ser181Arg)
|
rs141060456
|
|
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
|
|
|
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)
|
rs368217486
|
|
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
|
rs368217486
|
|
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)
|
rs72650732
|
|
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu)
|
rs61746139
|
|
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
|
|
|
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
|
|
|
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)
|
rs760258217
|
|
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr)
|
rs948561024
|
|
NM_021098.3(CACNA1H):c.1835A>C (p.Asn612Thr)
|
rs773099504
|
|
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
|
|
|
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn)
|
rs200687647
|
|
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys)
|
rs548097951
|
|
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys)
|
rs369474500
|
|
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)
|
rs372000875
|
|
NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr)
|
rs755717160
|
|
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
|
|
|
NM_021098.3(CACNA1H):c.4408A>G (p.Lys1470Glu)
|
|
|
NM_021098.3(CACNA1H):c.4772G>A (p.Ser1591Asn)
|
|
|
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
|
|
|
NM_021098.3(CACNA1H):c.5875G>A (p.Gly1959Ser)
|
|
|
NM_021098.3(CACNA1H):c.5974G>A (p.Gly1992Ser)
|
rs558813483
|
|
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln)
|
rs200399120
|
|
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.6643A>G (p.Thr2215Ala)
|
|
|
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe)
|
rs746267333
|
|
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn)
|
|
|
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe)
|
|
|
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala)
|
rs765057432
|
|
NM_022089.4(ATP13A2):c.1195+5G>A
|
|
|
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.2326G>A (p.Val776Ile)
|
rs56170027
|
|
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
|
|
|
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
|
|
|
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
|
|
|
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)
|
rs181694819
|
|
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser)
|
rs181694819
|
|
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
|
|
|
NM_022489.4(INF2):c.2065C>T (p.Arg689Trp)
|
|
|
NM_022489.4(INF2):c.2087C>T (p.Ala696Val)
|
|
|
NM_022489.4(INF2):c.2419-5T>C
|
|
|
NM_022489.4(INF2):c.2517G>A (p.Glu839=)
|
rs561061092
|
|
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)
|
rs200247054
|
|
NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)
|
|
|
NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)
|
|
|
NM_022489.4(INF2):c.3166G>A (p.Gly1056Ser)
|
|
|
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro)
|
rs368869709
|
|
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
|
rs767075044
|
|
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2])
|
rs748373029
|
|
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)
|
rs764338863
|
|
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
|
|
|
NM_022489.4(INF2):c.3674G>A (p.Arg1225His)
|
|
|
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs)
|
rs753327806
|
|
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
|
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
NM_022489.4(INF2):c.685G>A (p.Val229Ile)
|
rs752058170
|
|
NM_022489.4(INF2):c.917G>A (p.Arg306His)
|
|
|
NM_024426.6(WT1):c.569C>T (p.Pro190Leu)
|
rs757349907
|
|
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)
|
rs555466095
|
|
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg)
|
rs867336520
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)
|
rs1064794957
|
|
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
|
|
|
NM_213655.5(WNK1):c.2172dup (p.Pro725fs)
|
rs910119961
|
|
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)
|
rs1252496774
|
|
NM_213720.3(CHCHD10):c.42-5C>T
|
rs868345557
|
|
Single allele
|
|
|