NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_173660.5(DOK7):c.-6C>G
|
rs191800156
|
0.01785
|
NM_000815.5(GABRD):c.659G>A (p.Arg220His)
|
rs41307846
|
0.01721
|
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln)
|
rs190036021
|
0.01411
|
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)
|
rs1801158
|
0.01380
|
NM_130811.4(SNAP25):c.-9A>G
|
rs41306792
|
0.01318
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01194
|
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)
|
rs55689103
|
0.01176
|
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile)
|
rs34368668
|
0.01129
|
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr)
|
rs111033530
|
0.01127
|
NM_004782.4(SNAP29):c.-5G>A
|
rs139884576
|
0.01122
|
NM_004782.4(SNAP29):c.-8C>G
|
rs186825747
|
0.01122
|
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)
|
rs115466046
|
0.01096
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.01026
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys)
|
rs61729833
|
0.00965
|
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu)
|
rs116807842
|
0.00956
|
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile)
|
rs41289969
|
0.00944
|
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)
|
rs62167164
|
0.00935
|
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val)
|
rs114853127
|
0.00920
|
NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr)
|
rs3087450
|
0.00858
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00844
|
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser)
|
rs138288952
|
0.00834
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)
|
rs116644127
|
0.00802
|
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met)
|
rs114274755
|
0.00791
|
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp)
|
rs147175064
|
0.00760
|
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)
|
rs143414291
|
0.00754
|
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp)
|
rs28464796
|
0.00735
|
NM_000336.3(SCNN1B):c.1543-17C>T
|
rs35074083
|
0.00731
|
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr)
|
rs112230218
|
0.00719
|
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser)
|
rs113611857
|
0.00689
|
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)
|
rs150942467
|
0.00675
|
NM_004614.5(TK2):c.94C>T (p.Arg32Trp)
|
rs200121712
|
0.00636
|
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)
|
rs201222692
|
0.00627
|
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)
|
rs75860381
|
0.00621
|
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys)
|
rs35719391
|
0.00619
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys)
|
rs141536854
|
0.00601
|
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser)
|
rs147103646
|
0.00601
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_012301.4(MAGI2):c.276C>G (p.Pro92=)
|
rs146012909
|
0.00597
|
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr)
|
rs148651456
|
0.00596
|
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)
|
rs62000429
|
0.00596
|
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)
|
rs35884879
|
0.00589
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
NM_198576.4(AGRN):c.67G>C (p.Val23Leu)
|
rs201073369
|
0.00583
|
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp)
|
rs80297119
|
0.00582
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)
|
rs201050491
|
0.00575
|
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)
|
rs73969684
|
0.00574
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp)
|
rs61737716
|
0.00561
|
NM_014855.3(AP5Z1):c.-1G>C
|
rs146143723
|
0.00560
|
NM_004463.3(FGD1):c.2757G>A (p.Ala919=)
|
rs61734180
|
0.00551
|
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val)
|
rs34456867
|
0.00548
|
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser)
|
rs115927577
|
0.00548
|
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys)
|
rs2307447
|
0.00542
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro)
|
rs117070973
|
0.00528
|
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg)
|
rs146136277
|
0.00524
|
NM_001293298.2(CEMIP):c.1231C>G (p.Leu411Val)
|
rs144349326
|
0.00522
|
NM_012188.5(FOXI1):c.726C>T (p.Ser242=)
|
rs35678180
|
0.00520
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)
|
rs79970751
|
0.00503
|
NM_000166.6(GJB1):c.-77G>A
|
rs190676487
|
0.00500
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753
|
0.00500
|
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)
|
rs139544500
|
0.00494
|
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg)
|
rs12327568
|
0.00494
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys)
|
rs138139146
|
0.00483
|
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)
|
rs142315727
|
0.00478
|
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp)
|
rs79509430
|
0.00475
|
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg)
|
rs36031476
|
0.00473
|
NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys)
|
rs61998220
|
0.00468
|
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)
|
rs138744051
|
0.00456
|
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)
|
rs73928330
|
0.00456
|
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)
|
rs61745465
|
0.00451
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)
|
rs111033304
|
0.00450
|
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)
|
rs61757684
|
0.00449
|
NM_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr)
|
rs114471872
|
0.00448
|
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly)
|
rs145086096
|
0.00442
|
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser)
|
rs61755328
|
0.00441
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys)
|
rs567966154
|
0.00428
|
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn)
|
rs35342218
|
0.00419
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His)
|
rs79654794
|
0.00408
|
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr)
|
rs62641756
|
0.00401
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr)
|
rs55814513
|
0.00396
|
NM_018723.4(RBFOX1):c.-229C>G
|
rs144510926
|
0.00395
|
NM_005476.7(GNE):c.624T>G (p.Asp208Glu)
|
rs35224402
|
0.00389
|
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His)
|
rs115510695
|
0.00383
|
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln)
|
rs73181648
|
0.00381
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile)
|
rs115399307
|
0.00376
|
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp)
|
rs142805337
|
0.00374
|
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met)
|
rs144202114
|
0.00373
|
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)
|
rs199839743
|
0.00372
|
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu)
|
rs61731613
|
0.00368
|
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)
|
rs79045813
|
0.00367
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)
|
rs140921822
|
0.00364
|
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)
|
rs76675748
|
0.00361
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val)
|
rs200575377
|
0.00352
|
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)
|
rs140501902
|
0.00349
|
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu)
|
rs118098246
|
0.00348
|
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
|
rs77706858
|
0.00348
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val)
|
rs115279465
|
0.00342
|
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)
|
rs201687417
|
0.00341
|
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu)
|
rs117005078
|
0.00338
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_020686.6(ABAT):c.816+7C>A
|
rs376046736
|
0.00332
|
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)
|
rs148104020
|
0.00330
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_201384.3(PLEC):c.8445T>C (p.Val2815=)
|
rs371421350
|
0.00329
|
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr)
|
rs34234609
|
0.00327
|
NM_198576.4(AGRN):c.4285C>T (p.Arg1429Cys)
|
rs201346452
|
0.00327
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys)
|
rs34758634
|
0.00324
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00320
|
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=)
|
rs61742545
|
0.00315
|
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)
|
rs111558968
|
0.00315
|
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val)
|
rs61749238
|
0.00315
|
NM_000085.5(CLCNKB):c.1409-6T>C
|
rs115910575
|
0.00312
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
NM_000336.3(SCNN1B):c.777-5T>C
|
rs61759915
|
0.00311
|
NM_032634.4(PIGO):c.2268G>A (p.Ala756=)
|
rs149171782
|
0.00310
|
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)
|
rs190664764
|
0.00304
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile)
|
rs147034750
|
0.00303
|
NM_000426.4(LAMA2):c.6788C>T (p.Thr2263Met)
|
rs56209257
|
0.00301
|
NM_006030.4(CACNA2D2):c.1833G>A (p.Lys611=)
|
rs41305892
|
0.00301
|
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)
|
rs2857824
|
0.00301
|
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=)
|
rs77789547
|
0.00300
|
NM_002160.4(TNC):c.6499G>A (p.Val2167Ile)
|
rs149752009
|
0.00299
|
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)
|
rs142013761
|
0.00299
|
NM_000085.5(CLCNKB):c.258G>A (p.Gly86=)
|
rs143339401
|
0.00298
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=)
|
rs183742506
|
0.00293
|
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His)
|
rs41311989
|
0.00293
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)
|
rs74463786
|
0.00290
|
NM_001128228.3(TPRN):c.162C>A (p.Gly54=)
|
rs562167855
|
0.00287
|
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)
|
rs150179494
|
0.00284
|
NM_203446.3(SYNJ1):c.*728C>T
|
rs2230767
|
0.00284
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
|
rs146097254
|
0.00280
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
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_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
|
rs200957609
|
0.00278
|
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
NM_000257.4(MYH7):c.4353+10G>A
|
rs202205780
|
0.00274
|
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met)
|
rs149948290
|
0.00274
|
NM_005422.4(TECTA):c.972G>C (p.Val324=)
|
rs147790742
|
0.00271
|
NM_000079.4(CHRNA1):c.-8G>A
|
rs138563328
|
0.00270
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)
|
rs147131452
|
0.00268
|
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=)
|
rs114046098
|
0.00267
|
NM_004526.4(MCM2):c.1501G>A (p.Gly501Arg)
|
rs13087457
|
0.00264
|
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=)
|
rs112483670
|
0.00264
|
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
|
rs17102066
|
0.00264
|
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile)
|
rs115928999
|
0.00262
|
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)
|
rs142099123
|
0.00261
|
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln)
|
rs143848095
|
0.00260
|
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)
|
rs143157673
|
0.00258
|
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)
|
rs149185431
|
0.00258
|
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr)
|
rs114942253
|
0.00255
|
NM_004782.4(SNAP29):c.234C>G (p.Ser78=)
|
rs144160898
|
0.00251
|
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)
|
rs77138370
|
0.00251
|
NM_001278064.2(GRM1):c.2859C>T (p.Thr953=)
|
rs116471335
|
0.00249
|
NM_004393.6(DAG1):c.1233G>A (p.Val411=)
|
rs145765079
|
0.00249
|
NM_021942.6(TRAPPC11):c.3273A>G (p.Pro1091=)
|
rs113269326
|
0.00249
|
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln)
|
rs201089795
|
0.00248
|
NM_004004.6(GJB2):c.-45C>A
|
rs397516868
|
0.00245
|
NM_018075.5(ANO10):c.1915-5816C>A
|
rs146629436
|
0.00245
|
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val)
|
rs141901178
|
0.00244
|
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)
|
rs148932387
|
0.00242
|
NM_000337.6(SGCD):c.*2A>C
|
rs200757725
|
0.00241
|
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu)
|
rs192195094
|
0.00240
|
NM_002578.5(PAK3):c.531G>A (p.Glu177=)
|
rs56270341
|
0.00239
|
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)
|
rs34066624
|
0.00238
|
NM_006383.4(CIB2):c.462G>A (p.Glu154=)
|
rs117153558
|
0.00236
|
NM_032119.4(ADGRV1):c.22+9T>C
|
rs368604803
|
0.00236
|
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
|
rs142199280
|
0.00232
|
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=)
|
rs370656151
|
0.00231
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00229
|
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
|
rs141918432
|
0.00228
|
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)
|
rs191428830
|
0.00228
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00228
|
NM_004393.6(DAG1):c.2036G>A (p.Arg679His)
|
rs113904914
|
0.00227
|
NM_024577.4(SH3TC2):c.3479-8A>G
|
rs147800229
|
0.00227
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser)
|
rs143026295
|
0.00224
|
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)
|
rs116105846
|
0.00224
|
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)
|
rs41261344
|
0.00222
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
NM_002529.4(NTRK1):c.254G>A (p.Arg85His)
|
rs79678945
|
0.00220
|
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=)
|
rs76327447
|
0.00220
|
NM_133642.5(LARGE1):c.210C>T (p.Arg70=)
|
rs145048151
|
0.00220
|
NM_020686.6(ABAT):c.641T>C (p.Met214Thr)
|
rs149271402
|
0.00219
|
NM_080680.3(COL11A2):c.3583-5T>C
|
rs183536190
|
0.00219
|
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=)
|
rs145210051
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn)
|
rs17855116
|
0.00217
|
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=)
|
rs140963173
|
0.00217
|
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu)
|
rs201060500
|
0.00216
|
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)
|
rs145115430
|
0.00213
|
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=)
|
rs144016931
|
0.00213
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_000352.6(ABCC8):c.4545+13C>T
|
rs78338172
|
0.00212
|
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=)
|
rs150723240
|
0.00210
|
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys)
|
rs41297444
|
0.00210
|
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln)
|
rs151001222
|
0.00210
|
NM_000083.3(CLCN1):c.2509-3C>T
|
rs375341574
|
0.00208
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
NM_005422.4(TECTA):c.1812C>T (p.Ser604=)
|
rs138914618
|
0.00207
|
NM_005529.7(HSPG2):c.2024G>A (p.Arg675Gln)
|
rs143119915
|
0.00207
|
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)
|
rs144358567
|
0.00207
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00206
|
NM_012301.4(MAGI2):c.3911G>A (p.Gly1304Asp)
|
rs145648453
|
0.00206
|
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)
|
rs7271776
|
0.00206
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)
|
rs143240527
|
0.00204
|
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)
|
rs140528529
|
0.00203
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00203
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)
|
rs201006742
|
0.00202
|
NM_002303.6(LEPR):c.1604-16T>C
|
rs143936245
|
0.00202
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)
|
rs116426399
|
0.00200
|
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=)
|
rs149371169
|
0.00200
|
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)
|
rs145937537
|
0.00200
|
NM_182914.3(SYNE2):c.18039-5T>A
|
rs189611387
|
0.00199
|
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu)
|
rs142058362
|
0.00198
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu)
|
rs150832847
|
0.00197
|
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)
|
rs150403702
|
0.00197
|
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)
|
rs45522138
|
0.00196
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_024589.3(ROGDI):c.522C>T (p.Ser174=)
|
rs150687774
|
0.00190
|
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn)
|
rs144586270
|
0.00189
|
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
|
rs142458572
|
0.00188
|
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn)
|
rs140205115
|
0.00187
|
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln)
|
rs72654356
|
0.00186
|
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)
|
rs185149177
|
0.00186
|
NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val)
|
rs189463989
|
0.00185
|
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met)
|
rs145476116
|
0.00185
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)
|
rs141195622
|
0.00183
|
NM_176787.5(PIGN):c.2751G>T (p.Thr917=)
|
rs200481058
|
0.00183
|
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu)
|
rs9311404
|
0.00182
|
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)
|
rs35610053
|
0.00181
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00180
|
NM_001378030.1(CCDC78):c.492+1G>A
|
rs138669350
|
0.00180
|
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)
|
rs146398746
|
0.00180
|
NM_018075.5(ANO10):c.1954A>G (p.Met652Val)
|
rs147989825
|
0.00180
|
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro)
|
rs150573158
|
0.00180
|
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val)
|
rs142000273
|
0.00180
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr)
|
rs138044459
|
0.00178
|
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=)
|
rs373069459
|
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_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=)
|
rs148232368
|
0.00177
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)
|
rs200592310
|
0.00176
|
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)
|
rs141363186
|
0.00175
|
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)
|
rs186881889
|
0.00175
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg)
|
rs202084411
|
0.00173
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
NM_002906.4(RDX):c.1487C>T (p.Ala496Val)
|
rs74983220
|
0.00173
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)
|
rs200742016
|
0.00172
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser)
|
rs41290704
|
0.00167
|
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=)
|
rs111967328
|
0.00167
|
NM_170682.4(P2RX2):c.-10C>T
|
rs566193497
|
0.00167
|
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro)
|
rs142841538
|
0.00166
|
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=)
|
rs147984237
|
0.00166
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)
|
rs41285286
|
0.00165
|
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser)
|
rs141625803
|
0.00164
|
NM_001386393.1(PANK2):c.489G>A (p.Leu163=)
|
rs71647837
|
0.00164
|
NM_201525.4(ADGRG1):c.1287-28G>C
|
rs60624815
|
0.00163
|
NM_001164508.2(NEB):c.18464A>C (p.Tyr6155Ser)
|
rs201971223
|
0.00162
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr)
|
rs115489112
|
0.00161
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp)
|
rs145274257
|
0.00159
|
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)
|
rs61736590
|
0.00159
|
NM_201384.3(PLEC):c.2458-8C>T
|
rs201818691
|
0.00159
|
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser)
|
rs145873257
|
0.00156
|
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=)
|
rs201941844
|
0.00155
|
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)
|
rs201574539
|
0.00155
|
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)
|
rs144051476
|
0.00153
|
NM_001130987.2(DYSF):c.4756-3C>T
|
rs371227553
|
0.00153
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
NM_201384.3(PLEC):c.2237G>A (p.Arg746His)
|
rs200887085
|
0.00153
|
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)
|
rs185594460
|
0.00151
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_016929.5(CLIC5):c.477G>T (p.Glu159Asp)
|
rs148377014
|
0.00150
|
NM_022464.5(SIL1):c.1030-14G>A
|
rs184154914
|
0.00148
|
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
|
rs145238250
|
0.00148
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_002693.3(POLG):c.1890C>T (p.Asn630=)
|
rs148658588
|
0.00146
|
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)
|
rs200248561
|
0.00145
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_201384.3(PLEC):c.1824C>T (p.Ser608=)
|
rs201927593
|
0.00144
|
NM_002156.5(HSPD1):c.700+8C>T
|
rs185384719
|
0.00143
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
NM_020451.3(SELENON):c.852C>T (p.Phe284=)
|
rs187880136
|
0.00141
|
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)
|
rs201655861
|
0.00141
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_005198.5(CHKB):c.457T>C (p.Leu153=)
|
rs146693439
|
0.00138
|
NM_005529.7(HSPG2):c.8156G>A (p.Ser2719Asn)
|
rs139042516
|
0.00138
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)
|
rs141741640
|
0.00138
|
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)
|
rs145322467
|
0.00137
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=)
|
rs35240149
|
0.00136
|
NM_000352.6(ABCC8):c.822+20C>T
|
rs181998151
|
0.00136
|
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=)
|
rs199536020
|
0.00136
|
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=)
|
rs143456239
|
0.00136
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_000336.3(SCNN1B):c.181G>A (p.Ala61Thr)
|
rs72654321
|
0.00135
|
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)
|
rs141280063
|
0.00135
|
NM_201384.3(PLEC):c.174+10del
|
rs528031000
|
0.00134
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_001009944.3(PKD1):c.1123C>A (p.Leu375Ile)
|
rs546468897
|
0.00132
|
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser)
|
rs144408326
|
0.00132
|
NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr)
|
rs144108695
|
0.00132
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00132
|
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)
|
rs187011732
|
0.00132
|
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00131
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_173660.5(DOK7):c.1008G>A (p.Ser336=)
|
rs185050737
|
0.00131
|
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)
|
rs139163400
|
0.00130
|
NM_174878.3(CLRN1):c.254-2186C>T
|
rs142185813
|
0.00129
|
NM_001293298.2(CEMIP):c.832C>T (p.Pro278Ser)
|
rs138423783
|
0.00128
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00128
|
NM_001008388.5(CISD2):c.52C>T (p.Leu18=)
|
rs142339135
|
0.00127
|
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys)
|
rs150243147
|
0.00127
|
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)
|
rs150689014
|
0.00127
|
NM_001199107.2(TBC1D24):c.-7C>T
|
rs199852092
|
0.00126
|
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr)
|
rs56930660
|
0.00126
|
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)
|
rs138004884
|
0.00126
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)
|
rs148833652
|
0.00123
|
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)
|
rs200898220
|
0.00123
|
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=)
|
rs200718262
|
0.00121
|
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)
|
rs149251662
|
0.00121
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892
|
0.00121
|
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)
|
rs899353
|
0.00120
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His)
|
rs151184052
|
0.00118
|
NM_016239.4(MYO15A):c.7908C>T (p.Ala2636=)
|
rs201535856
|
0.00118
|
NM_176787.5(PIGN):c.2238A>G (p.Ile746Met)
|
rs200658159
|
0.00117
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)
|
rs45590135
|
0.00116
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser)
|
rs141002044
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)
|
rs150230201
|
0.00113
|
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=)
|
rs149786687
|
0.00113
|
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)
|
rs61751149
|
0.00112
|
NM_004315.6(ASAH1):c.38G>A (p.Gly13Glu)
|
rs144306858
|
0.00111
|
NM_182914.3(SYNE2):c.7643+6T>C
|
rs144143344
|
0.00111
|
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln)
|
rs141917910
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
NM_201384.3(PLEC):c.4230C>T (p.Asp1410=)
|
rs111282136
|
0.00110
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu)
|
rs145376050
|
0.00109
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_004646.4(NPHS1):c.3482-7A>T
|
rs73928326
|
0.00107
|
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=)
|
rs149923357
|
0.00107
|
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)
|
rs376665854
|
0.00107
|
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=)
|
rs113315760
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
NM_005045.4(RELN):c.5880A>G (p.Thr1960=)
|
rs362793
|
0.00105
|
NM_005529.7(HSPG2):c.10204G>C (p.Val3402Leu)
|
rs150666616
|
0.00105
|
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)
|
rs182411153
|
0.00105
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
NM_001146262.4(SYT14):c.1055G>A (p.Arg352His)
|
rs142853530
|
0.00104
|
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)
|
rs368682964
|
0.00104
|
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu)
|
rs140359400
|
0.00104
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00103
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00102
|
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)
|
rs148008634
|
0.00102
|
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln)
|
rs200031107
|
0.00101
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
NM_182914.3(SYNE2):c.15006C>T (p.Ser5002=)
|
rs143686889
|
0.00101
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)
|
rs144435836
|
0.00101
|
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
NM_000083.3(CLCN1):c.2364+10G>A
|
rs201855153
|
0.00098
|
NM_001256545.2(MEGF10):c.3026-8C>T
|
rs185480820
|
0.00098
|
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)
|
rs362800
|
0.00098
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)
|
rs141068211
|
0.00098
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00097
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
NM_015295.3(SMCHD1):c.5878+8T>G
|
rs144115061
|
0.00097
|
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)
|
rs149806390
|
0.00097
|
NM_000260.4(MYO7A):c.5259G>A (p.Lys1753=)
|
rs370062187
|
0.00096
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
NM_001164508.2(NEB):c.9315C>A (p.Val3105=)
|
rs371174518
|
0.00096
|
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)
|
rs199653503
|
0.00096
|
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)
|
rs146167897
|
0.00096
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00096
|
NM_201378.4(PLEC):c.71-11599T>C
|
rs201910266
|
0.00096
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
NM_152743.4(BRAT1):c.434C>T (p.Ala145Val)
|
rs140833277
|
0.00095
|
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
|
rs147316771
|
0.00093
|
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=)
|
rs145346590
|
0.00093
|
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)
|
rs121909536
|
0.00091
|
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr)
|
rs146022384
|
0.00091
|
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)
|
rs145213666
|
0.00091
|
NM_004408.4(DNM1):c.1782-9A>G
|
rs201739236
|
0.00090
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_153766.3(KCNJ1):c.-21-2121G>A
|
rs147611594
|
0.00089
|
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)
|
rs140553130
|
0.00088
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)
|
rs141467923
|
0.00087
|
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr)
|
rs149094407
|
0.00086
|
NM_015087.5(SPART):c.1939G>A (p.Val647Met)
|
rs146683642
|
0.00086
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu)
|
rs146685404
|
0.00086
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=)
|
rs34803755
|
0.00084
|
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu)
|
rs189860274
|
0.00084
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)
|
rs149028067
|
0.00083
|
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg)
|
rs140476180
|
0.00083
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910
|
0.00083
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00082
|
NM_000352.6(ABCC8):c.4198+18C>T
|
rs373178978
|
0.00081
|
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)
|
rs200650758
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_005529.7(HSPG2):c.8325C>T (p.Gly2775=)
|
rs142011049
|
0.00081
|
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)
|
rs138791086
|
0.00081
|
NM_201384.3(PLEC):c.3073G>A (p.Glu1025Lys)
|
rs150652392
|
0.00081
|
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys)
|
rs139300921
|
0.00080
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)
|
rs147870520
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)
|
rs147084515
|
0.00079
|
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)
|
rs28937880
|
0.00079
|
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)
|
rs149859034
|
0.00079
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=)
|
rs140134749
|
0.00078
|
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)
|
rs140954748
|
0.00078
|
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp)
|
rs115155117
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)
|
rs138120505
|
0.00078
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_173354.5(SIK1):c.881C>T (p.Ala294Val)
|
rs141114345
|
0.00077
|
NM_000722.4(CACNA2D1):c.1735-8del
|
rs554101334
|
0.00076
|
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
|
rs147739328
|
0.00075
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)
|
rs147632811
|
0.00075
|
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=)
|
rs142451929
|
0.00074
|
NM_001174089.2(SLC4A11):c.44-321C>A
|
rs112505411
|
0.00074
|
NM_001379500.1(COL18A1):c.2158-9C>T
|
rs200143450
|
0.00074
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
NM_000092.5(COL4A4):c.736-10T>G
|
rs201175819
|
0.00073
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00073
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00073
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg)
|
rs201394709
|
0.00071
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
NM_021098.3(CACNA1H):c.2368G>A (p.Val790Met)
|
rs28365116
|
0.00071
|
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=)
|
rs138116334
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile)
|
rs199890298
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_016373.4(WWOX):c.605+9T>A
|
rs368853054
|
0.00069
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe)
|
rs143676075
|
0.00068
|
NM_020247.5(COQ8A):c.240C>T (p.His80=)
|
rs113667144
|
0.00068
|
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
|
rs141448778
|
0.00067
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=)
|
rs77833016
|
0.00067
|
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln)
|
rs147088274
|
0.00067
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)
|
rs146309392
|
0.00066
|
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile)
|
rs140991712
|
0.00065
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
NM_002055.5(GFAP):c.433G>A (p.Ala145Thr)
|
rs141400812
|
0.00065
|
NM_000026.4(ADSL):c.403-4G>A
|
rs373652667
|
0.00064
|
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)
|
rs144947610
|
0.00064
|
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)
|
rs149887215
|
0.00064
|
NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=)
|
rs138895639
|
0.00064
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)
|
rs374780430
|
0.00063
|
NM_001195248.2(APTX):c.513G>A (p.Leu171=)
|
rs140888559
|
0.00063
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
NM_015404.4(WHRN):c.2322C>T (p.Ser774=)
|
rs55966714
|
0.00062
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00062
|
NM_024740.2(ALG9):c.945T>C (p.Asn315=)
|
rs185555263
|
0.00062
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys)
|
rs201493373
|
0.00061
|
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=)
|
rs138023728
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly)
|
rs199691161
|
0.00061
|
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
0.00061
|
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)
|
rs146121135
|
0.00061
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)
|
rs377059744
|
0.00061
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
NM_024884.3(L2HGDH):c.756T>C (p.Cys252=)
|
rs141562044
|
0.00060
|
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)
|
rs201820569
|
0.00059
|
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=)
|
rs142714242
|
0.00059
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser)
|
rs142527333
|
0.00059
|
NM_024589.3(ROGDI):c.567G>A (p.Leu189=)
|
rs143000899
|
0.00059
|
NM_033305.3(VPS13A):c.8712A>G (p.Leu2904=)
|
rs146607868
|
0.00059
|
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)
|
rs150905950
|
0.00059
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=)
|
rs542151771
|
0.00058
|
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)
|
rs35012272
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)
|
rs149600313
|
0.00058
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)
|
rs201414940
|
0.00057
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_002087.3(GRN):c.-45C>G
|
rs563336550
|
0.00057
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)
|
rs143109401
|
0.00056
|
NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=)
|
rs373730163
|
0.00056
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His)
|
rs150304459
|
0.00055
|
NM_015559.3(SETBP1):c.3790T>G (p.Ser1264Ala)
|
rs141108624
|
0.00055
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00055
|
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)
|
rs200722246
|
0.00055
|
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=)
|
rs547262346
|
0.00054
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00054
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
NM_001851.6(COL9A1):c.1368C>T (p.Leu456=)
|
rs140761349
|
0.00053
|
NM_018723.4(RBFOX1):c.96C>G (p.Pro32=)
|
rs143695164
|
0.00052
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00052
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_005633.4(SOS1):c.2760G>A (p.Arg920=)
|
rs149092581
|
0.00051
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00051
|
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)
|
rs151046729
|
0.00051
|
NM_144991.3(TSPEAR):c.1698C>T (p.Tyr566=)
|
rs62218852
|
0.00051
|
NM_201384.3(PLEC):c.540C>T (p.Cys180=)
|
rs189256993
|
0.00051
|
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=)
|
rs147833498
|
0.00050
|
NM_001079802.2(FKTN):c.285T>C (p.His95=)
|
rs148046151
|
0.00050
|
NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile)
|
rs528790143
|
0.00050
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
NM_000091.5(COL4A3):c.171C>T (p.Pro57=)
|
rs368291735
|
0.00049
|
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp)
|
rs200562975
|
0.00049
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
NM_000260.4(MYO7A):c.5559C>T (p.His1853=)
|
rs373612656
|
0.00049
|
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
|
rs2303603
|
0.00049
|
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg)
|
rs201537012
|
0.00049
|
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)
|
rs781946435
|
0.00049
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=)
|
rs141106709
|
0.00048
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
NM_014363.6(SACS):c.260-9G>A
|
rs376676263
|
0.00048
|
NM_032119.4(ADGRV1):c.15240T>C (p.Asn5080=)
|
rs375911753
|
0.00048
|
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)
|
rs193068692
|
0.00047
|
NM_005413.4(SIX3):c.824T>C (p.Ile275Thr)
|
rs377320521
|
0.00047
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_005477.3(HCN4):c.2694C>T (p.Gly898=)
|
rs375169111
|
0.00046
|
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)
|
rs139838884
|
0.00046
|
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu)
|
rs60734921
|
0.00046
|
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)
|
rs145075161
|
0.00046
|
NM_201378.4(PLEC):c.71-11848G>A
|
rs371337955
|
0.00046
|
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)
|
rs371763907
|
0.00046
|
NM_000091.5(COL4A3):c.2826C>T (p.Pro942=)
|
rs201064766
|
0.00045
|
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)
|
rs142769942
|
0.00045
|
NM_001146079.2(CLDN14):c.102G>A (p.Ala34=)
|
rs146395322
|
0.00045
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)
|
rs148788926
|
0.00045
|
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)
|
rs139509075
|
0.00045
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
NM_001126121.2(SLC25A19):c.155G>A (p.Arg52His)
|
rs138954932
|
0.00044
|
NM_003560.4(PLA2G6):c.966C>T (p.His322=)
|
rs144033740
|
0.00044
|
NM_016630.7(SPG21):c.846G>A (p.Ala282=)
|
rs146986015
|
0.00044
|
NM_024334.3(TMEM43):c.279C>T (p.Gly93=)
|
rs149883381
|
0.00044
|
NM_000166.6(GJB1):c.-6G>A
|
rs201344743
|
0.00043
|
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val)
|
rs144649618
|
0.00043
|
NM_001293298.2(CEMIP):c.645G>C (p.Glu215Asp)
|
rs151251518
|
0.00043
|
NM_005097.4(LGI1):c.717A>C (p.Ile239=)
|
rs146425212
|
0.00043
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
NM_015346.4(ZFYVE26):c.5654-10C>G
|
rs183559101
|
0.00043
|
NM_000726.5(CACNB4):c.64-238T>G
|
rs369342902
|
0.00042
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_015346.4(ZFYVE26):c.7056C>T (p.Thr2352=)
|
rs141586165
|
0.00042
|
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)
|
rs149566146
|
0.00042
|
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)
|
rs140491072
|
0.00041
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
NM_017882.3(CLN6):c.822G>A (p.Ala274=)
|
rs151186473
|
0.00041
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
NM_198994.3(TGM6):c.1705T>A (p.Tyr569Asn)
|
rs142406714
|
0.00041
|
NM_000540.3(RYR1):c.10644G>A (p.Glu3548=)
|
rs149417544
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala)
|
rs147874855
|
0.00040
|
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)
|
rs782590380
|
0.00040
|
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln)
|
rs201220835
|
0.00039
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln)
|
rs147286334
|
0.00039
|
NM_152393.4(KLHL40):c.238G>C (p.Asp80His)
|
rs144461124
|
0.00039
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000209.4(PDX1):c.336C>G (p.Pro112=)
|
rs149275902
|
0.00038
|
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)
|
rs144351014
|
0.00038
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=)
|
rs144957555
|
0.00038
|
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=)
|
rs148362276
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)
|
rs116640707
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
NM_213599.3(ANO5):c.720G>T (p.Leu240=)
|
rs147121216
|
0.00037
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)
|
rs201724032
|
0.00036
|
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)
|
rs188888939
|
0.00036
|
NM_001130987.2(DYSF):c.3086-9C>T
|
rs185350547
|
0.00036
|
NM_001367561.1(DOCK7):c.4368G>A (p.Glu1456=)
|
rs149367921
|
0.00036
|
NM_006030.4(CACNA2D2):c.1227C>T (p.Asp409=)
|
rs150031515
|
0.00036
|
NM_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
NM_182914.3(SYNE2):c.2936A>G (p.His979Arg)
|
rs546054742
|
0.00036
|
NM_201384.3(PLEC):c.13404G>A (p.Ala4468=)
|
rs183341386
|
0.00036
|
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=)
|
rs368326361
|
0.00036
|
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser)
|
rs566921201
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
NM_001379500.1(COL18A1):c.3510G>A (p.Ala1170=)
|
rs374326288
|
0.00035
|
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)
|
rs575642464
|
0.00035
|
NM_000815.5(GABRD):c.1152G>A (p.Pro384=)
|
rs77557135
|
0.00034
|
NM_000815.5(GABRD):c.470+6C>T
|
rs202225187
|
0.00034
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)
|
rs138519099
|
0.00034
|
NM_015346.4(ZFYVE26):c.624T>C (p.Asp208=)
|
rs140128583
|
0.00034
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser)
|
rs200674917
|
0.00034
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00033
|
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)
|
rs767821521
|
0.00033
|
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=)
|
rs372858742
|
0.00033
|
NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=)
|
rs375180690
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=)
|
rs201430964
|
0.00032
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=)
|
rs202066007
|
0.00032
|
NM_153033.5(KCTD7):c.387C>T (p.Ala129=)
|
rs140932942
|
0.00032
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00032
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys)
|
rs369813654
|
0.00031
|
NM_000540.3(RYR1):c.8616+7G>A
|
rs200023171
|
0.00031
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001278064.2(GRM1):c.2340C>T (p.Asn780=)
|
rs41285861
|
0.00031
|
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)
|
rs141527136
|
0.00031
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)
|
rs150821246
|
0.00031
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=)
|
rs370155790
|
0.00031
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_001178015.2(SLC4A10):c.2652T>C (p.His884=)
|
rs373234260
|
0.00030
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)
|
rs150121030
|
0.00030
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu)
|
rs75086141
|
0.00029
|
NM_000426.4(LAMA2):c.2121C>T (p.Ser707=)
|
rs145622088
|
0.00029
|
NM_001077365.2(POMT1):c.1698+10C>A
|
rs184131819
|
0.00029
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
NM_001267550.2(TTN):c.38386G>C (p.Glu12796Gln)
|
rs577399087
|
0.00029
|
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)
|
rs377226540
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His)
|
rs201950393
|
0.00029
|
NM_001909.5(CTSD):c.1071+7G>A
|
rs374010531
|
0.00029
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00029
|
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)
|
rs145823996
|
0.00029
|
NM_005045.4(RELN):c.5643G>A (p.Leu1881=)
|
rs141387255
|
0.00029
|
NM_006946.4(SPTBN2):c.4418T>C (p.Leu1473Ser)
|
rs146137419
|
0.00029
|
NM_014363.6(SACS):c.2929C>T (p.Leu977=)
|
rs146296924
|
0.00029
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)
|
rs184693266
|
0.00029
|
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala)
|
rs200821440
|
0.00029
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
NM_182961.4(SYNE1):c.7122G>A (p.Glu2374=)
|
rs141883657
|
0.00029
|
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)
|
rs370168097
|
0.00029
|
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=)
|
rs150623275
|
0.00028
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
NM_004115.4(FGF14):c.153G>A (p.Val51=)
|
rs148687898
|
0.00028
|
NM_005045.4(RELN):c.2827C>T (p.His943Tyr)
|
rs190615928
|
0.00028
|
NM_014846.4(WASHC5):c.-9C>T
|
rs187822596
|
0.00028
|
NM_022464.5(SIL1):c.1206C>T (p.Gly402=)
|
rs146164392
|
0.00028
|
NM_000083.3(CLCN1):c.2541C>T (p.His847=)
|
rs146653916
|
0.00027
|
NM_000360.4(TH):c.627C>G (p.Ile209Met)
|
rs202149985
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=)
|
rs369467841
|
0.00027
|
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met)
|
rs139855779
|
0.00027
|
NM_201384.3(PLEC):c.1760G>A (p.Arg587Gln)
|
rs200259757
|
0.00027
|
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
|
rs200274258
|
0.00026
|
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val)
|
rs779745348
|
0.00026
|
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)
|
rs150093305
|
0.00026
|
NM_001135022.2(ELMOD3):c.943+65G>A
|
rs189210777
|
0.00026
|
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)
|
rs183939928
|
0.00026
|
NM_001961.4(EEF2):c.283G>A (p.Gly95Ser)
|
rs145985140
|
0.00026
|
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)
|
rs142917412
|
0.00026
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln)
|
rs568224207
|
0.00026
|
NM_182914.3(SYNE2):c.3639-6A>G
|
rs369878032
|
0.00026
|
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)
|
rs201069314
|
0.00026
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_003482.4(KMT2D):c.682C>G (p.Arg228Gly)
|
rs201994402
|
0.00025
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
NM_013275.6(ANKRD11):c.5518G>A (p.Ala1840Thr)
|
rs144003224
|
0.00025
|
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val)
|
rs147962000
|
0.00025
|
NM_000098.3(CPT2):c.1422C>A (p.Ala474=)
|
rs192779168
|
0.00024
|
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys)
|
rs149987700
|
0.00024
|
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys)
|
rs146482011
|
0.00024
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=)
|
rs138751942
|
0.00024
|
NM_001256545.2(MEGF10):c.1041C>A (p.Gly347=)
|
rs138524411
|
0.00024
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
NM_003042.4(SLC6A1):c.-5G>A
|
rs200451145
|
0.00024
|
NM_004924.6(ACTN4):c.2469C>T (p.Ser823=)
|
rs143282009
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_017739.4(POMGNT1):c.1786-6C>T
|
rs202028128
|
0.00024
|
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln)
|
rs532223684
|
0.00024
|
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)
|
rs200135486
|
0.00024
|
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)
|
rs759030267
|
0.00024
|
NM_000238.4(KCNH2):c.697G>T (p.Ala233Ser)
|
rs772037564
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
NM_182961.4(SYNE1):c.2569-8C>T
|
rs376033376
|
0.00023
|
NM_198578.4(LRRK2):c.856C>G (p.Leu286Val)
|
rs200437744
|
0.00023
|
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=)
|
rs199990259
|
0.00023
|
NM_000083.3(CLCN1):c.900G>A (p.Arg300=)
|
rs149578972
|
0.00022
|
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr)
|
rs143517122
|
0.00022
|
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)
|
rs141193981
|
0.00022
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)
|
rs148355969
|
0.00022
|
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)
|
rs371759532
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_024411.5(PDYN):c.691C>A (p.Arg231=)
|
rs201204862
|
0.00022
|
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=)
|
rs201475256
|
0.00022
|
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=)
|
rs138524511
|
0.00022
|
NM_201384.3(PLEC):c.2268C>T (p.Thr756=)
|
rs371267446
|
0.00022
|
NM_000217.3(KCNA1):c.136C>A (p.Leu46Met)
|
rs149959487
|
0.00021
|
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=)
|
rs367738288
|
0.00021
|
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)
|
rs200517944
|
0.00021
|
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His)
|
rs144559574
|
0.00021
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00021
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)
|
rs150043310
|
0.00021
|
NM_001080414.4(CCDC88C):c.6024T>C (p.Ser2008=)
|
rs372767405
|
0.00021
|
NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=)
|
rs200641770
|
0.00021
|
NM_001244008.2(KIF1A):c.4998T>C (p.Pro1666=)
|
rs201119646
|
0.00021
|
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)
|
rs201581947
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=)
|
rs370850999
|
0.00021
|
NM_005912.3(MC4R):c.837C>T (p.Cys279=)
|
rs145765578
|
0.00021
|
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=)
|
rs138766015
|
0.00021
|
NM_006946.4(SPTBN2):c.3749G>A (p.Arg1250Gln)
|
rs145948524
|
0.00021
|
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)
|
rs150157112
|
0.00021
|
NM_033305.3(VPS13A):c.621C>T (p.Ile207=)
|
rs146941948
|
0.00021
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)
|
rs375097273
|
0.00021
|
NM_201384.3(PLEC):c.5460C>T (p.Ala1820=)
|
rs782259899
|
0.00021
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001354604.2(MITF):c.316C>T (p.Leu106Phe)
|
rs371080525
|
0.00020
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
NM_001379500.1(COL18A1):c.295C>T (p.Arg99Trp)
|
rs199918230
|
0.00020
|
NM_002055.5(GFAP):c.676G>A (p.Val226Met)
|
rs149883728
|
0.00020
|
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu)
|
rs200578414
|
0.00020
|
NM_004082.5(DCTN1):c.837G>A (p.Ala279=)
|
rs72466489
|
0.00020
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp)
|
rs142378119
|
0.00020
|
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=)
|
rs377516058
|
0.00020
|
NM_177924.5(ASAH1):c.504-4A>G
|
rs138920776
|
0.00020
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=)
|
rs150727562
|
0.00020
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000156.6(GAMT):c.328-10C>T
|
rs371511930
|
0.00019
|
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln)
|
rs754817283
|
0.00019
|
NM_000435.3(NOTCH3):c.6684C>T (p.Ser2228=)
|
rs755461072
|
0.00019
|
NM_001127222.2(CACNA1A):c.1781+7C>A
|
rs202005119
|
0.00019
|
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val)
|
rs559839676
|
0.00019
|
NM_001244008.2(KIF1A):c.882+8G>A
|
rs376552408
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
|
rs149496322
|
0.00019
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)
|
rs199942544
|
0.00019
|
NM_006922.4(SCN3A):c.363T>C (p.Ala121=)
|
rs145171998
|
0.00019
|
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=)
|
rs140209609
|
0.00019
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
0.00019
|
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)
|
rs143798689
|
0.00019
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00019
|
NM_020247.5(COQ8A):c.1332C>T (p.Thr444=)
|
rs138727410
|
0.00019
|
NM_021098.3(CACNA1H):c.4759+8G>A
|
rs199997129
|
0.00019
|
NM_021116.4(ADCY1):c.1251C>T (p.Asp417=)
|
rs142228376
|
0.00019
|
NM_025137.4(SPG11):c.5796T>C (p.His1932=)
|
rs375350193
|
0.00019
|
NM_030962.4(SBF2):c.4799C>T (p.Thr1600Ile)
|
rs183468503
|
0.00019
|
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu)
|
rs140090745
|
0.00019
|
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val)
|
rs368377822
|
0.00019
|
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)
|
rs188598190
|
0.00018
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=)
|
rs768871202
|
0.00018
|
NM_001130987.2(DYSF):c.5022C>T (p.Cys1674=)
|
rs149989207
|
0.00018
|
NM_001278064.2(GRM1):c.1488C>T (p.His496=)
|
rs141568265
|
0.00018
|
NM_001286445.3(RIPOR2):c.2592C>T (p.Phe864=)
|
rs568529825
|
0.00018
|
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser)
|
rs144896235
|
0.00018
|
NM_006946.4(SPTBN2):c.4634C>T (p.Ala1545Val)
|
rs150801133
|
0.00018
|
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)
|
rs372517211
|
0.00018
|
NM_018109.4(MTPAP):c.992+9G>A
|
rs367950561
|
0.00018
|
NM_020247.5(COQ8A):c.385G>A (p.Gly129Arg)
|
rs372953250
|
0.00018
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00018
|
NM_201525.4(ADGRG1):c.249C>T (p.Asp83=)
|
rs563444751
|
0.00018
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
NM_000142.5(FGFR3):c.967G>A (p.Val323Ile)
|
rs753520867
|
0.00017
|
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)
|
rs375968860
|
0.00017
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
NM_000447.3(PSEN2):c.66G>A (p.Ser22=)
|
rs367645069
|
0.00017
|
NM_001005361.3(DNM2):c.480C>T (p.Ile160=)
|
rs140036663
|
0.00017
|
NM_001009944.3(PKD1):c.7278T>C (p.Ser2426=)
|
rs2575311
|
0.00017
|
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=)
|
rs142391112
|
0.00017
|
NM_001009944.3(PKD1):c.8751G>A (p.Ala2917=)
|
rs746333408
|
0.00017
|
NM_001110556.2(FLNA):c.5559A>C (p.Gly1853=)
|
rs372028899
|
0.00017
|
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)
|
rs533884784
|
0.00017
|
NM_001174089.2(SLC4A11):c.1944C>T (p.Leu648=)
|
rs376622984
|
0.00017
|
NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=)
|
rs201656750
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001278064.2(GRM1):c.3426G>T (p.Ser1142=)
|
rs147521426
|
0.00017
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
0.00017
|
NM_015346.4(ZFYVE26):c.1369C>G (p.Leu457Val)
|
rs201917832
|
0.00017
|
NM_018109.4(MTPAP):c.1313-3C>T
|
rs201064853
|
0.00017
|
NM_022464.5(SIL1):c.699T>C (p.Asn233=)
|
rs140891877
|
0.00017
|
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp)
|
rs1342864499
|
0.00017
|
NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln)
|
rs561571844
|
0.00017
|
NM_000051.4(ATM):c.8584+10T>C
|
rs373321041
|
0.00016
|
NM_000209.4(PDX1):c.210G>T (p.Val70=)
|
rs748725637
|
0.00016
|
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)
|
rs145673861
|
0.00016
|
NM_000834.5(GRIN2B):c.3648C>T (p.Arg1216=)
|
rs201405157
|
0.00016
|
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=)
|
rs767721989
|
0.00016
|
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=)
|
rs150209984
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_001146262.4(SYT14):c.1710G>A (p.Ala570=)
|
rs371789098
|
0.00016
|
NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln)
|
rs761660130
|
0.00016
|
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr)
|
rs200585270
|
0.00016
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg)
|
rs181766682
|
0.00016
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00016
|
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=)
|
rs56182751
|
0.00016
|
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=)
|
rs375234629
|
0.00016
|
NM_001378452.1(ITPR1):c.4843-7G>A
|
rs184969640
|
0.00016
|
NM_001853.4(COL9A3):c.1876G>A (p.Val626Met)
|
rs146407922
|
0.00016
|
NM_005045.4(RELN):c.2532G>A (p.Pro844=)
|
rs113842330
|
0.00016
|
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys)
|
rs368594369
|
0.00016
|
NM_007262.5(PARK7):c.410-9A>G
|
rs143947415
|
0.00016
|
NM_007327.4(GRIN1):c.2097G>C (p.Leu699=)
|
rs143865216
|
0.00016
|
NM_013275.6(ANKRD11):c.6712A>G (p.Ser2238Gly)
|
rs770209899
|
0.00016
|
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg)
|
rs139308429
|
0.00016
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg)
|
rs186429469
|
0.00016
|
NM_021098.3(CACNA1H):c.4608C>T (p.Ile1536=)
|
rs777641943
|
0.00016
|
NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser)
|
rs373539744
|
0.00016
|
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)
|
rs368106957
|
0.00016
|
NM_080680.3(COL11A2):c.4863+7G>A
|
rs200947059
|
0.00016
|
NM_177550.5(SLC13A5):c.1156+9C>T
|
rs201530285
|
0.00016
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
NM_198994.3(TGM6):c.1250C>T (p.Thr417Met)
|
rs141071237
|
0.00016
|
NM_201384.3(PLEC):c.12064C>T (p.Leu4022Phe)
|
rs189061273
|
0.00016
|
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)
|
rs782202249
|
0.00016
|
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)
|
rs373952777
|
0.00016
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00015
|
NM_000383.4(AIRE):c.936C>T (p.Asp312=)
|
rs147889221
|
0.00015
|
NM_000435.3(NOTCH3):c.181C>T (p.Arg61Trp)
|
rs200595885
|
0.00015
|
NM_000756.4(CRH):c.123T>G (p.Pro41=)
|
rs752420051
|
0.00015
|
NM_001009944.3(PKD1):c.10161C>T (p.His3387=)
|
rs143350197
|
0.00015
|
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=)
|
rs141344823
|
0.00015
|
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
|
rs373744398
|
0.00015
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=)
|
rs543329958
|
0.00015
|
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)
|
rs771703569
|
0.00015
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)
|
rs201387324
|
0.00015
|
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=)
|
rs140585416
|
0.00015
|
NM_014363.6(SACS):c.3345C>T (p.Val1115=)
|
rs143287019
|
0.00015
|
NM_018105.3(THAP1):c.57C>T (p.Pro19=)
|
rs146087734
|
0.00015
|
NM_024301.5(FKRP):c.336C>T (p.Ala112=)
|
rs1054339656
|
0.00015
|
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)
|
rs185829704
|
0.00015
|
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)
|
rs201765507
|
0.00015
|
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)
|
rs142102094
|
0.00014
|
NM_000117.3(EMD):c.537G>A (p.Leu179=)
|
rs368661339
|
0.00014
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=)
|
rs140483001
|
0.00014
|
NM_000458.4(HNF1B):c.1046-12G>A
|
rs201751705
|
0.00014
|
NM_001127222.2(CACNA1A):c.5840-7C>T
|
rs372261381
|
0.00014
|
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn)
|
rs149715258
|
0.00014
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001278064.2(GRM1):c.2265C>A (p.Ala755=)
|
rs150675631
|
0.00014
|
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)
|
rs143513754
|
0.00014
|
NM_005045.4(RELN):c.3411C>T (p.Gly1137=)
|
rs137974322
|
0.00014
|
NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu)
|
rs199880827
|
0.00014
|
NM_014874.4(MFN2):c.870C>T (p.Gly290=)
|
rs368302487
|
0.00014
|
NM_015087.5(SPART):c.360A>G (p.Lys120=)
|
rs149730980
|
0.00014
|
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=)
|
rs374624466
|
0.00014
|
NM_153700.2(STRC):c.3555G>A (p.Leu1185=)
|
rs2597064
|
0.00014
|
NM_173500.4(TTBK2):c.3258T>C (p.Pro1086=)
|
rs772205818
|
0.00014
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00014
|
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp)
|
rs148854519
|
0.00014
|
NM_201384.3(PLEC):c.3286C>T (p.Arg1096Cys)
|
rs533410461
|
0.00014
|
NM_201384.3(PLEC):c.5443C>T (p.Arg1815Trp)
|
rs398123400
|
0.00014
|
NM_201384.3(PLEC):c.6424G>A (p.Ala2142Thr)
|
rs370942881
|
0.00014
|
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)
|
rs373922545
|
0.00014
|
NM_201384.3(PLEC):c.8727C>T (p.Thr2909=)
|
rs370129235
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
|
rs193922276
|
0.00013
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)
|
rs762394421
|
0.00013
|
NM_001009944.3(PKD1):c.726T>C (p.Phe242=)
|
rs750727364
|
0.00013
|
NM_001127222.2(CACNA1A):c.4388+8G>A
|
rs376248243
|
0.00013
|
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile)
|
rs752031193
|
0.00013
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00013
|
NM_004974.4(KCNA2):c.618C>T (p.Ser206=)
|
rs566902174
|
0.00013
|
NM_006005.3(WFS1):c.2610C>T (p.Thr870=)
|
rs727503754
|
0.00013
|
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
|
rs191237702
|
0.00013
|
NM_006946.4(SPTBN2):c.4022G>A (p.Arg1341Gln)
|
rs149992317
|
0.00013
|
NM_018109.4(MTPAP):c.1011C>T (p.Ser337=)
|
rs139195646
|
0.00013
|
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=)
|
rs148964635
|
0.00013
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
NM_173500.4(TTBK2):c.1015C>T (p.Leu339Phe)
|
rs371538715
|
0.00013
|
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)
|
rs764753481
|
0.00013
|
NM_173500.4(TTBK2):c.1247A>G (p.Asn416Ser)
|
rs200010694
|
0.00013
|
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)
|
rs141170182
|
0.00013
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
NM_198994.3(TGM6):c.2078A>G (p.Asp693Gly)
|
rs377479985
|
0.00013
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)
|
rs200263975
|
0.00012
|
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu)
|
rs146810942
|
0.00012
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
NM_001164508.2(NEB):c.12316G>A (p.Asp4106Asn)
|
rs192843524
|
0.00012
|
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=)
|
rs181719144
|
0.00012
|
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)
|
rs201999373
|
0.00012
|
NM_002547.3(OPHN1):c.12C>G (p.Pro4=)
|
rs139546241
|
0.00012
|
NM_004172.5(SLC1A3):c.796G>A (p.Ala266Thr)
|
rs146929198
|
0.00012
|
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)
|
rs748402153
|
0.00012
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00012
|
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)
|
rs150610657
|
0.00012
|
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)
|
rs377027736
|
0.00012
|
NM_014363.6(SACS):c.7641A>G (p.Lys2547=)
|
rs780021681
|
0.00012
|
NM_021942.6(TRAPPC11):c.-8T>C
|
rs574951106
|
0.00012
|
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)
|
rs372350188
|
0.00012
|
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)
|
rs143644029
|
0.00012
|
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)
|
rs367680077
|
0.00012
|
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=)
|
rs201699649
|
0.00011
|
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)
|
rs372019457
|
0.00011
|
NM_000435.3(NOTCH3):c.2941C>T (p.His981Tyr)
|
rs143695196
|
0.00011
|
NM_000435.3(NOTCH3):c.5124C>T (p.Ala1708=)
|
rs149766864
|
0.00011
|
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile)
|
rs142007575
|
0.00011
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=)
|
rs372696163
|
0.00011
|
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=)
|
rs146363575
|
0.00011
|
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=)
|
rs754894798
|
0.00011
|
NM_001042432.2(CLN3):c.1022G>A (p.Arg341His)
|
rs201271341
|
0.00011
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)
|
rs201905405
|
0.00011
|
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)
|
rs587780850
|
0.00011
|
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=)
|
rs755794991
|
0.00011
|
NM_001267550.2(TTN):c.74701G>A (p.Val24901Ile)
|
rs766110889
|
0.00011
|
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=)
|
rs72648204
|
0.00011
|
NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile)
|
rs138958733
|
0.00011
|
NM_001278064.2(GRM1):c.1773C>T (p.Ile591=)
|
rs138083268
|
0.00011
|
NM_001377265.1(MAPT):c.2349G>A (p.Glu783=)
|
rs142776675
|
0.00011
|
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)
|
rs199698357
|
0.00011
|
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)
|
rs1049324
|
0.00011
|
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)
|
rs779278368
|
0.00011
|
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser)
|
rs200480185
|
0.00011
|
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)
|
rs369466037
|
0.00011
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
NM_002693.3(POLG):c.87C>T (p.Ser29=)
|
rs587781116
|
0.00011
|
NM_003042.4(SLC6A1):c.1041T>C (p.His347=)
|
rs371611997
|
0.00011
|
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=)
|
rs374985304
|
0.00011
|
NM_004977.3(KCNC3):c.1991A>G (p.Asn664Ser)
|
rs199833067
|
0.00011
|
NM_005271.5(GLUD1):c.195C>T (p.Asn65=)
|
rs760817479
|
0.00011
|
NM_005660.3(SLC35A2):c.447C>A (p.Ile149=)
|
rs782379632
|
0.00011
|
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)
|
rs558572111
|
0.00011
|
NM_006946.4(SPTBN2):c.3707G>A (p.Arg1236His)
|
rs372553453
|
0.00011
|
NM_006946.4(SPTBN2):c.5099G>A (p.Arg1700His)
|
rs141457344
|
0.00011
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00011
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
0.00011
|
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn)
|
rs188294801
|
0.00011
|
NM_018451.5(CENPJ):c.3803G>A (p.Gly1268Asp)
|
rs151090294
|
0.00011
|
NM_020247.5(COQ8A):c.525C>T (p.Ala175=)
|
rs201787750
|
0.00011
|
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=)
|
rs762968242
|
0.00011
|
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=)
|
rs369322856
|
0.00011
|
NM_022089.4(ATP13A2):c.252C>T (p.His84=)
|
rs554944790
|
0.00011
|
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)
|
rs200241260
|
0.00011
|
NM_032409.3(PINK1):c.1362C>T (p.Tyr454=)
|
rs56383368
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg)
|
rs373500080
|
0.00011
|
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)
|
rs36104367
|
0.00011
|
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys)
|
rs150105416
|
0.00011
|
NM_198994.3(TGM6):c.1158C>T (p.His386=)
|
rs371763464
|
0.00011
|
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile)
|
rs201163149
|
0.00011
|
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=)
|
rs576688705
|
0.00011
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000451.4(SHOX):c.545-10T>C
|
rs370327147
|
0.00010
|
NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=)
|
rs375499070
|
0.00010
|
NM_001127222.2(CACNA1A):c.5134-4A>G
|
rs200165596
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00010
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
NM_001267550.2(TTN):c.18775A>G (p.Thr6259Ala)
|
rs780049500
|
0.00010
|
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
|
rs540115992
|
0.00010
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
NM_001844.5(COL2A1):c.3084G>T (p.Thr1028=)
|
rs142786064
|
0.00010
|
NM_001961.4(EEF2):c.627C>T (p.Leu209=)
|
rs145155508
|
0.00010
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
NM_004369.4(COL6A3):c.543T>C (p.Asp181=)
|
rs898779231
|
0.00010
|
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=)
|
rs374708543
|
0.00010
|
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr)
|
rs142996063
|
0.00010
|
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg)
|
rs190532690
|
0.00010
|
NM_014845.6(FIG4):c.102G>A (p.Thr34=)
|
rs145711919
|
0.00010
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_014918.5(CHSY1):c.489G>A (p.Lys163=)
|
rs146047900
|
0.00010
|
NM_018429.3(BDP1):c.2210A>G (p.Lys737Arg)
|
rs746227158
|
0.00010
|
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)
|
rs61745503
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)
|
rs201715967
|
0.00010
|
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=)
|
rs148994723
|
0.00010
|
NM_182961.4(SYNE1):c.7767C>T (p.His2589=)
|
rs149165706
|
0.00010
|
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)
|
rs142676206
|
0.00010
|
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=)
|
rs184006845
|
0.00010
|
NM_198994.3(TGM6):c.1678+8T>C
|
rs369457769
|
0.00010
|
NM_198994.3(TGM6):c.743C>T (p.Pro248Leu)
|
rs142013495
|
0.00010
|
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg)
|
rs375595045
|
0.00010
|
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)
|
rs537994918
|
0.00010
|
NM_201384.3(PLEC):c.12390G>A (p.Thr4130=)
|
rs200575172
|
0.00010
|
NM_201384.3(PLEC):c.4956G>A (p.Ala1652=)
|
rs367910889
|
0.00010
|
NM_201384.3(PLEC):c.6084G>A (p.Ala2028=)
|
rs528306324
|
0.00010
|
NM_000069.3(CACNA1S):c.3525+7del
|
rs759199210
|
0.00009
|
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=)
|
rs200676193
|
0.00009
|
NM_000144.5(FXN):c.384+8T>C
|
rs367974156
|
0.00009
|
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
|
rs759982229
|
0.00009
|
NM_000435.3(NOTCH3):c.1854A>G (p.Glu618=)
|
rs150438748
|
0.00009
|
NM_000435.3(NOTCH3):c.4046C>T (p.Ser1349Phe)
|
rs937871148
|
0.00009
|
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr)
|
rs377589088
|
0.00009
|
NM_000435.3(NOTCH3):c.624C>T (p.Asn208=)
|
rs368179321
|
0.00009
|
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)
|
rs374517238
|
0.00009
|
NM_000548.5(TSC2):c.2743-9C>T
|
rs397515319
|
0.00009
|
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)
|
rs776608168
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=)
|
rs778410054
|
0.00009
|
NM_001042492.3(NF1):c.2325+16C>G
|
rs371709563
|
0.00009
|
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=)
|
rs535077726
|
0.00009
|
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)
|
rs369742607
|
0.00009
|
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=)
|
rs200209920
|
0.00009
|
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=)
|
rs200741233
|
0.00009
|
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)
|
rs370208081
|
0.00009
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)
|
rs564353179
|
0.00009
|
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)
|
rs573218266
|
0.00009
|
NM_002739.5(PRKCG):c.1738C>T (p.Arg580Trp)
|
rs149266855
|
0.00009
|
NM_002775.5(HTRA1):c.165C>A (p.Gly55=)
|
rs947247701
|
0.00009
|
NM_003119.4(SPG7):c.1053C>T (p.Pro351=)
|
rs762689331
|
0.00009
|
NM_005529.7(HSPG2):c.2367G>A (p.Gly789=)
|
rs151039517
|
0.00009
|
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)
|
rs201614853
|
0.00009
|
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln)
|
rs199422214
|
0.00009
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His)
|
rs377663856
|
0.00009
|
NM_006946.4(SPTBN2):c.3347G>A (p.Arg1116Gln)
|
rs372569008
|
0.00009
|
NM_014363.6(SACS):c.2040C>T (p.Ser680=)
|
rs142115704
|
0.00009
|
NM_014845.6(FIG4):c.2459+7T>G
|
rs575271308
|
0.00009
|
NM_018847.4(KLHL9):c.1394G>A (p.Cys465Tyr)
|
rs191333137
|
0.00009
|
NM_020247.5(COQ8A):c.1014C>T (p.Ala338=)
|
rs374358866
|
0.00009
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
NM_022464.5(SIL1):c.993C>T (p.Arg331=)
|
rs201009798
|
0.00009
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
NM_144599.5(NIPA1):c.266C>T (p.Ala89Val)
|
rs548931873
|
0.00009
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
NM_182961.4(SYNE1):c.20163C>T (p.Asn6721=)
|
rs201221147
|
0.00009
|
NM_182961.4(SYNE1):c.21951C>T (p.Ser7317=)
|
rs368864479
|
0.00009
|
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)
|
rs372840016
|
0.00009
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00009
|
NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=)
|
rs201460864
|
0.00009
|
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=)
|
rs369335995
|
0.00009
|
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=)
|
rs370300688
|
0.00008
|
NM_001009944.3(PKD1):c.4512C>T (p.Asp1504=)
|
rs774929658
|
0.00008
|
NM_001127222.2(CACNA1A):c.5401-10G>A
|
rs370129945
|
0.00008
|
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=)
|
rs543436497
|
0.00008
|
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)
|
rs372264428
|
0.00008
|
NM_001278064.2(GRM1):c.3000C>T (p.Thr1000=)
|
rs746188712
|
0.00008
|
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=)
|
rs150129110
|
0.00008
|
NM_001378452.1(ITPR1):c.780G>A (p.Gln260=)
|
rs549363319
|
0.00008
|
NM_001379110.1(SLC9A6):c.524+3A>G
|
rs372679456
|
0.00008
|
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=)
|
rs151068619
|
0.00008
|
NM_003560.4(PLA2G6):c.756C>T (p.Asn252=)
|
rs771809118
|
0.00008
|
NM_004463.3(FGD1):c.85G>C (p.Ala29Pro)
|
rs752282314
|
0.00008
|
NM_005529.7(HSPG2):c.201C>T (p.Asp67=)
|
rs144919523
|
0.00008
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_018105.3(THAP1):c.590G>A (p.Gly197Asp)
|
rs140694378
|
0.00008
|
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=)
|
rs182347753
|
0.00008
|
NM_182914.3(SYNE2):c.5751C>T (p.Leu1917=)
|
rs373040509
|
0.00008
|
NM_201384.3(PLEC):c.2829G>A (p.Ala943=)
|
rs369370495
|
0.00008
|
NM_000142.5(FGFR3):c.2148C>T (p.Pro716=)
|
rs373967853
|
0.00007
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
NM_000334.4(SCN4A):c.2295C>A (p.Thr765=)
|
rs370434474
|
0.00007
|
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=)
|
rs145425679
|
0.00007
|
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
|
rs557113034
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=)
|
rs1344519371
|
0.00007
|
NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln)
|
rs78185588
|
0.00007
|
NM_001032221.6(STXBP1):c.1385C>T (p.Pro462Leu)
|
rs752394761
|
0.00007
|
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=)
|
rs201681631
|
0.00007
|
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=)
|
rs375649697
|
0.00007
|
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=)
|
rs367675784
|
0.00007
|
NM_001267550.2(TTN):c.25296C>T (p.Cys8432=)
|
rs375720439
|
0.00007
|
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)
|
rs370810609
|
0.00007
|
NM_001371727.1(GABRB2):c.372C>T (p.Asn124=)
|
rs138299514
|
0.00007
|
NM_001377265.1(MAPT):c.1676A>G (p.Asn559Ser)
|
rs150420625
|
0.00007
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002055.5(GFAP):c.848A>G (p.Asn283Ser)
|
rs201382676
|
0.00007
|
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)
|
rs35111108
|
0.00007
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970
|
0.00007
|
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp)
|
rs763948508
|
0.00007
|
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln)
|
rs753324919
|
0.00007
|
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu)
|
rs140642213
|
0.00007
|
NM_015346.4(ZFYVE26):c.6789C>T (p.Asp2263=)
|
rs372463199
|
0.00007
|
NM_016341.4(PLCE1):c.3183C>T (p.Pro1061=)
|
rs367640320
|
0.00007
|
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala)
|
rs746837682
|
0.00007
|
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn)
|
rs748648178
|
0.00007
|
NM_033380.3(COL4A5):c.646-6C>T
|
rs200151467
|
0.00007
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)
|
rs371204427
|
0.00007
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp)
|
rs201326247
|
0.00007
|
NM_201384.3(PLEC):c.5037G>A (p.Ala1679=)
|
rs782627006
|
0.00007
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000051.4(ATM):c.7062G>A (p.Ala2354=)
|
rs143489373
|
0.00006
|
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=)
|
rs200010601
|
0.00006
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=)
|
rs745608432
|
0.00006
|
NM_000198.4(HSD3B2):c.715C>T (p.Leu239=)
|
rs771922495
|
0.00006
|
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys)
|
rs141117135
|
0.00006
|
NM_000435.3(NOTCH3):c.1578C>G (p.Pro526=)
|
rs775208731
|
0.00006
|
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=)
|
rs140818133
|
0.00006
|
NM_000435.3(NOTCH3):c.2282C>T (p.Pro761Leu)
|
rs150866973
|
0.00006
|
NM_000435.3(NOTCH3):c.2652C>T (p.Cys884=)
|
rs767473898
|
0.00006
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn)
|
rs544773641
|
0.00006
|
NM_001009944.3(PKD1):c.2643C>T (p.Phe881=)
|
rs765764257
|
0.00006
|
NM_001037.5(SCN1B):c.448+8G>C
|
rs200222933
|
0.00006
|
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp)
|
rs368887417
|
0.00006
|
NM_001042492.3(NF1):c.393A>C (p.Ala131=)
|
rs761086521
|
0.00006
|
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=)
|
rs1188340576
|
0.00006
|
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser)
|
rs574805525
|
0.00006
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met)
|
rs375623472
|
0.00006
|
NM_001161352.2(KCNMA1):c.2469A>C (p.Ile823=)
|
rs111630810
|
0.00006
|
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=)
|
rs35770729
|
0.00006
|
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met)
|
rs779051005
|
0.00006
|
NM_001244008.2(KIF1A):c.531C>T (p.Tyr177=)
|
rs374244360
|
0.00006
|
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His)
|
rs539470256
|
0.00006
|
NM_001267550.2(TTN):c.44456C>T (p.Thr14819Ile)
|
rs778014249
|
0.00006
|
NM_001267550.2(TTN):c.46430-8C>T
|
rs773395217
|
0.00006
|
NM_001267550.2(TTN):c.55059T>C (p.Asn18353=)
|
rs553295928
|
0.00006
|
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)
|
rs767152563
|
0.00006
|
NM_001267550.2(TTN):c.62149A>G (p.Arg20717Gly)
|
rs75458912
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001278064.2(GRM1):c.1524T>C (p.Asp508=)
|
rs368772965
|
0.00006
|
NM_001378452.1(ITPR1):c.3565-4C>T
|
rs374122245
|
0.00006
|
NM_001909.5(CTSD):c.111G>A (p.Ser37=)
|
rs535140505
|
0.00006
|
NM_001961.4(EEF2):c.4-8T>A
|
rs371271708
|
0.00006
|
NM_002087.4(GRN):c.1641C>T (p.Arg547=)
|
rs149658268
|
0.00006
|
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu)
|
rs752477959
|
0.00006
|
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)
|
rs138454151
|
0.00006
|
NM_004172.5(SLC1A3):c.36G>A (p.Gly12=)
|
rs752951426
|
0.00006
|
NM_004637.6(RAB7A):c.180+9A>G
|
rs762831187
|
0.00006
|
NM_005445.4(SMC3):c.2064A>G (p.Glu688=)
|
rs767751857
|
0.00006
|
NM_005477.3(HCN4):c.2652C>T (p.Pro884=)
|
rs373814254
|
0.00006
|
NM_005529.7(HSPG2):c.10806C>A (p.Pro3602=)
|
rs367610252
|
0.00006
|
NM_005529.7(HSPG2):c.1689G>A (p.Thr563=)
|
rs144988621
|
0.00006
|
NM_005529.7(HSPG2):c.5217G>A (p.Ser1739=)
|
rs146482954
|
0.00006
|
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=)
|
rs539490455
|
0.00006
|
NM_006941.4(SOX10):c.274G>C (p.Val92Leu)
|
rs142113652
|
0.00006
|
NM_006946.4(SPTBN2):c.2944G>A (p.Glu982Lys)
|
rs777790247
|
0.00006
|
NM_006946.4(SPTBN2):c.4445G>A (p.Arg1482Gln)
|
rs769576700
|
0.00006
|
NM_006946.4(SPTBN2):c.4450C>T (p.Leu1484=)
|
rs139883853
|
0.00006
|
NM_007254.4(PNKP):c.1062C>T (p.Leu354=)
|
rs142830558
|
0.00006
|
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=)
|
rs756780145
|
0.00006
|
NM_013275.6(ANKRD11):c.6621C>T (p.Pro2207=)
|
rs539129565
|
0.00006
|
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala)
|
rs761503297
|
0.00006
|
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=)
|
rs376846232
|
0.00006
|
NM_014363.6(SACS):c.11781G>A (p.Ala3927=)
|
rs369998705
|
0.00006
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)
|
rs563145604
|
0.00006
|
NM_014625.4(NPHS2):c.852G>A (p.Ala284=)
|
rs371664350
|
0.00006
|
NM_014846.4(WASHC5):c.18C>T (p.Ala6=)
|
rs17852424
|
0.00006
|
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
|
rs750372437
|
0.00006
|
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)
|
rs942559171
|
0.00006
|
NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly)
|
rs141969887
|
0.00006
|
NM_015915.5(ATL1):c.990+4T>A
|
rs372029461
|
0.00006
|
NM_017780.4(CHD7):c.1410A>G (p.Glu470=)
|
rs368648424
|
0.00006
|
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=)
|
rs368919638
|
0.00006
|
NM_018972.4(GDAP1):c.90T>C (p.His30=)
|
rs555369956
|
0.00006
|
NM_020247.5(COQ8A):c.741C>T (p.Ala247=)
|
rs554280397
|
0.00006
|
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys)
|
rs567558964
|
0.00006
|
NM_030665.4(RAI1):c.1503G>A (p.Pro501=)
|
rs374194622
|
0.00006
|
NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=)
|
rs201777525
|
0.00006
|
NM_033629.6(TREX1):c.219G>A (p.Pro73=)
|
rs778992418
|
0.00006
|
NM_139343.3(BIN1):c.822C>T (p.His274=)
|
rs368730077
|
0.00006
|
NM_152743.4(BRAT1):c.1032G>A (p.Thr344=)
|
rs371220513
|
0.00006
|
NM_173500.4(TTBK2):c.1274G>A (p.Arg425His)
|
rs370495535
|
0.00006
|
NM_173500.4(TTBK2):c.588C>T (p.Asn196=)
|
rs531094726
|
0.00006
|
NM_175914.5(HNF4A):c.427-16C>T
|
rs535994220
|
0.00006
|
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)
|
rs767294195
|
0.00006
|
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)
|
rs190673256
|
0.00006
|
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)
|
rs757104773
|
0.00006
|
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn)
|
rs77221231
|
0.00006
|
NM_198994.3(TGM6):c.1226G>T (p.Ser409Ile)
|
rs752095723
|
0.00006
|
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
NM_198994.3(TGM6):c.688G>A (p.Asp230Asn)
|
rs147591485
|
0.00006
|
NM_201384.3(PLEC):c.2643G>A (p.Thr881=)
|
rs369973592
|
0.00006
|
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=)
|
rs775384507
|
0.00005
|
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=)
|
rs747938841
|
0.00005
|
NM_000219.6(KCNE1):c.24G>A (p.Ala8=)
|
rs144094344
|
0.00005
|
NM_000334.4(SCN4A):c.1461C>T (p.Ala487=)
|
rs541858248
|
0.00005
|
NM_000435.3(NOTCH3):c.2319C>T (p.Ser773=)
|
rs182623173
|
0.00005
|
NM_000435.3(NOTCH3):c.5673C>T (p.Leu1891=)
|
rs758393959
|
0.00005
|
NM_000489.6(ATRX):c.6018T>A (p.Val2006=)
|
rs781802180
|
0.00005
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
NM_001042432.2(CLN3):c.519T>C (p.Thr173=)
|
rs983162408
|
0.00005
|
NM_001110556.2(FLNA):c.4475-4C>T
|
rs199652065
|
0.00005
|
NM_001122752.2(SERPINI1):c.414T>C (p.His138=)
|
rs758630825
|
0.00005
|
NM_001122955.4(BSCL2):c.885G>A (p.Pro295=)
|
rs559783362
|
0.00005
|
NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=)
|
rs767026062
|
0.00005
|
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=)
|
rs777316026
|
0.00005
|
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=)
|
rs199789085
|
0.00005
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
0.00005
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu)
|
rs200120256
|
0.00005
|
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=)
|
rs145496868
|
0.00005
|
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)
|
rs186194682
|
0.00005
|
NM_002693.3(POLG):c.150G>A (p.Gln50=)
|
rs766501874
|
0.00005
|
NM_002739.5(PRKCG):c.397+10C>G
|
rs759781185
|
0.00005
|
NM_003482.4(KMT2D):c.1994C>T (p.Pro665Leu)
|
rs780891095
|
0.00005
|
NM_003611.3(OFD1):c.1347A>G (p.Ala449=)
|
rs151287373
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_004070.4(CLCNKA):c.1939C>T (p.Leu647Phe)
|
rs528421254
|
0.00005
|
NM_004977.3(KCNC3):c.1338C>T (p.Asn446=)
|
rs140640214
|
0.00005
|
NM_005529.7(HSPG2):c.10905C>T (p.Asp3635=)
|
rs776932601
|
0.00005
|
NM_005529.7(HSPG2):c.13026G>A (p.Thr4342=)
|
rs151237224
|
0.00005
|
NM_005592.4(MUSK):c.1674G>A (p.Pro558=)
|
rs541645382
|
0.00005
|
NM_012210.4(TRIM32):c.693A>C (p.Ala231=)
|
rs368455215
|
0.00005
|
NM_018319.4(TDP1):c.399C>T (p.Pro133=)
|
rs373648175
|
0.00005
|
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=)
|
rs567318021
|
0.00005
|
NM_021942.6(TRAPPC11):c.351C>T (p.Cys117=)
|
rs372764730
|
0.00005
|
NM_022464.5(SIL1):c.1125A>G (p.Glu375=)
|
rs149424114
|
0.00005
|
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp)
|
rs374049468
|
0.00005
|
NM_133433.4(NIPBL):c.3126T>C (p.Ser1042=)
|
rs757245118
|
0.00005
|
NM_152564.5(VPS13B):c.3873A>G (p.Gly1291=)
|
rs772263007
|
0.00005
|
NM_173500.4(TTBK2):c.2299G>A (p.Val767Met)
|
rs752400040
|
0.00005
|
NM_175914.5(HNF4A):c.50-4496C>T
|
rs189943469
|
0.00005
|
NM_175914.5(HNF4A):c.670+7C>T
|
rs376544046
|
0.00005
|
NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=)
|
rs771221504
|
0.00005
|
NM_198994.3(TGM6):c.2079C>T (p.Asp693=)
|
rs61748828
|
0.00005
|
NM_201378.4(PLEC):c.71-12006C>T
|
rs782759589
|
0.00005
|
NM_201384.3(PLEC):c.10446C>T (p.Arg3482=)
|
rs527572451
|
0.00005
|
NM_201384.3(PLEC):c.6918C>T (p.Ala2306=)
|
rs782163766
|
0.00005
|
NM_000070.3(CAPN3):c.1308C>T (p.Gly436=)
|
rs372968945
|
0.00004
|
NM_000209.4(PDX1):c.837G>T (p.Pro279=)
|
rs937660726
|
0.00004
|
NM_000217.3(KCNA1):c.240C>T (p.Tyr80=)
|
rs368673884
|
0.00004
|
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)
|
rs770694096
|
0.00004
|
NM_000371.4(TTR):c.375C>T (p.Tyr125=)
|
rs749079577
|
0.00004
|
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met)
|
rs200160665
|
0.00004
|
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp)
|
rs762164861
|
0.00004
|
NM_000435.3(NOTCH3):c.2296+8C>T
|
rs375460301
|
0.00004
|
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His)
|
rs779314594
|
0.00004
|
NM_000435.3(NOTCH3):c.6570G>A (p.Ala2190=)
|
rs771107661
|
0.00004
|
NM_000435.3(NOTCH3):c.6926C>G (p.Pro2309Arg)
|
rs548018044
|
0.00004
|
NM_000484.4(APP):c.917G>A (p.Arg306His)
|
rs202218688
|
0.00004
|
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)
|
rs573007540
|
0.00004
|
NM_000540.3(RYR1):c.879C>T (p.Thr293=)
|
rs371599963
|
0.00004
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00004
|
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser)
|
rs137854168
|
0.00004
|
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)
|
rs146734084
|
0.00004
|
NM_001001331.4(ATP2B2):c.3723G>A (p.Thr1241=)
|
rs767698970
|
0.00004
|
NM_001009944.3(PKD1):c.1723-45G>T
|
rs773310661
|
0.00004
|
NM_001009944.3(PKD1):c.216-8C>T
|
rs1157566139
|
0.00004
|
NM_001009944.3(PKD1):c.9228C>T (p.Ile3076=)
|
rs532264532
|
0.00004
|
NM_001079802.2(FKTN):c.1248C>T (p.Leu416=)
|
rs774804160
|
0.00004
|
NM_001083962.2(TCF4):c.594G>A (p.Ser198=)
|
rs368553922
|
0.00004
|
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=)
|
rs759320715
|
0.00004
|
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=)
|
rs368211900
|
0.00004
|
NM_001127222.2(CACNA1A):c.687C>T (p.Ile229=)
|
rs544057763
|
0.00004
|
NM_001127222.2(CACNA1A):c.784+9A>G
|
rs746215285
|
0.00004
|
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)
|
rs373328706
|
0.00004
|
NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=)
|
rs369750372
|
0.00004
|
NM_001164508.2(NEB):c.23199G>A (p.Pro7733=)
|
rs775027154
|
0.00004
|
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)
|
rs72648948
|
0.00004
|
NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln)
|
rs761993856
|
0.00004
|
NM_001267550.2(TTN):c.59235C>T (p.Thr19745=)
|
rs180965342
|
0.00004
|
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=)
|
rs776272431
|
0.00004
|
NM_001278064.2(GRM1):c.1422C>T (p.Asp474=)
|
rs371221115
|
0.00004
|
NM_001278064.2(GRM1):c.3339C>T (p.His1113=)
|
rs754649454
|
0.00004
|
NM_001354604.2(MITF):c.990C>T (p.Arg330=)
|
rs147883651
|
0.00004
|
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn)
|
rs185464679
|
0.00004
|
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met)
|
rs755486931
|
0.00004
|
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=)
|
rs542486327
|
0.00004
|
NM_001378454.1(ALMS1):c.12432A>G (p.Ser4144=)
|
rs762630256
|
0.00004
|
NM_001384140.1(PCDH15):c.4272A>G (p.Pro1424=)
|
rs759109238
|
0.00004
|
NM_001458.5(FLNC):c.6702C>T (p.Phe2234=)
|
rs370589662
|
0.00004
|
NM_001961.4(EEF2):c.2463C>T (p.Pro821=)
|
rs371674983
|
0.00004
|
NM_001961.4(EEF2):c.791+9C>T
|
rs757366805
|
0.00004
|
NM_002693.3(POLG):c.1638C>T (p.Arg546=)
|
rs772461291
|
0.00004
|
NM_002693.3(POLG):c.3444C>T (p.Arg1148=)
|
rs374937961
|
0.00004
|
NM_002739.5(PRKCG):c.1529C>A (p.Thr510Lys)
|
rs749199519
|
0.00004
|
NM_003482.4(KMT2D):c.7656T>C (p.Pro2552=)
|
rs774043426
|
0.00004
|
NM_003673.4(TCAP):c.54G>C (p.Arg18=)
|
rs754054712
|
0.00004
|
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)
|
rs367976914
|
0.00004
|
NM_004700.4(KCNQ4):c.1680C>T (p.Asp560=)
|
rs768363156
|
0.00004
|
NM_004960.4(FUS):c.676G>A (p.Gly226Ser)
|
rs758970940
|
0.00004
|
NM_004977.3(KCNC3):c.1032G>A (p.Thr344=)
|
rs571327522
|
0.00004
|
NM_005055.5(RAPSN):c.216G>A (p.Thr72=)
|
rs141877523
|
0.00004
|
NM_005529.7(HSPG2):c.10143C>T (p.Leu3381=)
|
rs577292003
|
0.00004
|
NM_005529.7(HSPG2):c.11379C>T (p.Asn3793=)
|
rs371570218
|
0.00004
|
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=)
|
rs773662857
|
0.00004
|
NM_005529.7(HSPG2):c.765G>A (p.Pro255=)
|
rs1334406616
|
0.00004
|
NM_005591.4(MRE11):c.2049G>A (p.Gly683=)
|
rs758931835
|
0.00004
|
NM_005619.5(RTN2):c.1476C>G (p.Pro492=)
|
rs748824542
|
0.00004
|
NM_006946.4(SPTBN2):c.1014C>T (p.Ser338=)
|
rs138740917
|
0.00004
|
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp)
|
rs773155491
|
0.00004
|
NM_006946.4(SPTBN2):c.5424C>T (p.His1808=)
|
rs113551867
|
0.00004
|
NM_006946.4(SPTBN2):c.5586C>T (p.Asp1862=)
|
rs138346945
|
0.00004
|
NM_006946.4(SPTBN2):c.6213G>A (p.Ala2071=)
|
rs779482257
|
0.00004
|
NM_006946.4(SPTBN2):c.6470G>A (p.Arg2157Lys)
|
rs376920607
|
0.00004
|
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val)
|
rs749226138
|
0.00004
|
NM_006946.4(SPTBN2):c.7034C>A (p.Thr2345Asn)
|
rs770261235
|
0.00004
|
NM_006946.4(SPTBN2):c.964G>A (p.Glu322Lys)
|
rs759451802
|
0.00004
|
NM_007375.4(TARDBP):c.1122T>C (p.Tyr374=)
|
rs147795017
|
0.00004
|
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)
|
rs563333869
|
0.00004
|
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
|
rs200900703
|
0.00004
|
NM_014363.6(SACS):c.1815A>G (p.Pro605=)
|
rs377649927
|
0.00004
|
NM_014363.6(SACS):c.5832A>G (p.Ala1944=)
|
rs374169472
|
0.00004
|
NM_014855.3(AP5Z1):c.891C>T (p.Ala297=)
|
rs763250825
|
0.00004
|
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=)
|
rs777233282
|
0.00004
|
NM_015046.7(SETX):c.1626C>T (p.Leu542=)
|
rs746541015
|
0.00004
|
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
|
rs751429987
|
0.00004
|
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)
|
rs370781594
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr)
|
rs530686162
|
0.00004
|
NM_015346.4(ZFYVE26):c.6423G>A (p.Thr2141=)
|
rs142448052
|
0.00004
|
NM_018109.4(MTPAP):c.1353T>C (p.Phe451=)
|
rs776949018
|
0.00004
|
NM_018129.4(PNPO):c.727T>C (p.Leu243=)
|
rs773871270
|
0.00004
|
NM_018319.4(TDP1):c.585G>A (p.Thr195=)
|
rs771269304
|
0.00004
|
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=)
|
rs766282582
|
0.00004
|
NM_024589.3(ROGDI):c.555G>C (p.Pro185=)
|
rs771793763
|
0.00004
|
NM_025137.4(SPG11):c.36C>T (p.Ser12=)
|
rs368656047
|
0.00004
|
NM_030665.4(RAI1):c.3543C>T (p.Ser1181=)
|
rs773430101
|
0.00004
|
NM_030962.4(SBF2):c.5493T>C (p.Asp1831=)
|
rs779051883
|
0.00004
|
NM_054027.6(ANKH):c.-6G>C
|
rs767368123
|
0.00004
|
NM_058246.4(DNAJB6):c.777G>A (p.Pro259=)
|
rs568868210
|
0.00004
|
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=)
|
rs561439887
|
0.00004
|
NM_175914.5(HNF4A):c.468G>A (p.Ala156=)
|
rs758124162
|
0.00004
|
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
|
rs367862999
|
0.00004
|
NM_182961.4(SYNE1):c.18630C>T (p.Pro6210=)
|
rs1022996215
|
0.00004
|
NM_182961.4(SYNE1):c.19848C>T (p.Ile6616=)
|
rs148247543
|
0.00004
|
NM_182961.4(SYNE1):c.462C>T (p.Ser154=)
|
rs761939786
|
0.00004
|
NM_198994.3(TGM6):c.1270A>C (p.Ile424Leu)
|
rs745804281
|
0.00004
|
NM_201384.3(PLEC):c.10368T>A (p.Val3456=)
|
rs538384389
|
0.00004
|
NM_201384.3(PLEC):c.13002C>T (p.Asp4334=)
|
rs782300050
|
0.00004
|
NM_201384.3(PLEC):c.2435T>C (p.Val812Ala)
|
rs557539356
|
0.00004
|
NM_201384.3(PLEC):c.2580G>A (p.Pro860=)
|
rs782468518
|
0.00004
|
NM_201384.3(PLEC):c.5115G>A (p.Ala1705=)
|
rs782757364
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
NM_000051.4(ATM):c.1368A>G (p.Leu456=)
|
rs750579940
|
0.00003
|
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=)
|
rs760793323
|
0.00003
|
NM_000338.3(SLC12A1):c.816T>C (p.Val272=)
|
rs369827965
|
0.00003
|
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg)
|
rs200547556
|
0.00003
|
NM_000391.4(TPP1):c.18-10G>T
|
rs778206032
|
0.00003
|
NM_000435.3(NOTCH3):c.1966G>A (p.Val656Met)
|
rs560752299
|
0.00003
|
NM_000435.3(NOTCH3):c.5265G>A (p.Leu1755=)
|
rs1021237220
|
0.00003
|
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)
|
rs202178897
|
0.00003
|
NM_000451.4(SHOX):c.486+14G>A
|
rs200795374
|
0.00003
|
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=)
|
rs782703242
|
0.00003
|
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)
|
rs483353044
|
0.00003
|
NM_001005361.3(DNM2):c.2295C>T (p.Pro765=)
|
rs1040102521
|
0.00003
|
NM_001009944.3(PKD1):c.8161+3G>A
|
rs753886023
|
0.00003
|
NM_001009944.3(PKD1):c.8814T>C (p.Pro2938=)
|
rs3204450
|
0.00003
|
NM_001040142.2(SCN2A):c.5760C>T (p.Leu1920=)
|
rs1449263336
|
0.00003
|
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=)
|
rs16004
|
0.00003
|
NM_001127222.2(CACNA1A):c.5580G>A (p.Pro1860=)
|
rs144137960
|
0.00003
|
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=)
|
rs974692135
|
0.00003
|
NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=)
|
rs201991581
|
0.00003
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00003
|
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=)
|
rs201716851
|
0.00003
|
NM_001136472.2(LITAF):c.240C>T (p.Tyr80=)
|
rs149184234
|
0.00003
|
NM_001161352.2(KCNMA1):c.1122C>T (p.Leu374=)
|
rs781404437
|
0.00003
|
NM_001164508.2(NEB):c.20847G>A (p.Thr6949=)
|
rs759425229
|
0.00003
|
NM_001256317.3(TMPRSS3):c.1293G>C (p.Gly431=)
|
rs369050452
|
0.00003
|
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)
|
rs549604128
|
0.00003
|
NM_001267550.2(TTN):c.27186T>G (p.Gly9062=)
|
rs745874179
|
0.00003
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
NM_001365999.1(SZT2):c.4710G>A (p.Thr1570=)
|
rs375889333
|
0.00003
|
NM_001376.5(DYNC1H1):c.12072G>A (p.Pro4024=)
|
rs537688769
|
0.00003
|
NM_001376.5(DYNC1H1):c.7896G>A (p.Leu2632=)
|
rs17512467
|
0.00003
|
NM_001378452.1(ITPR1):c.1833C>T (p.Thr611=)
|
rs546056087
|
0.00003
|
NM_001845.6(COL4A1):c.3285C>T (p.Ser1095=)
|
rs267603751
|
0.00003
|
NM_002047.4(GARS1):c.174G>A (p.Ala58=)
|
rs747227947
|
0.00003
|
NM_002693.3(POLG):c.1596C>T (p.Pro532=)
|
rs199856571
|
0.00003
|
NM_003059.3(SLC22A4):c.138G>A (p.Pro46=)
|
rs767014071
|
0.00003
|
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085
|
0.00003
|
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile)
|
rs200973006
|
0.00003
|
NM_004006.3(DMD):c.3114G>A (p.Glu1038=)
|
rs143810752
|
0.00003
|
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)
|
rs148810193
|
0.00003
|
NM_004408.4(DNM1):c.1893+9C>A
|
rs769121301
|
0.00003
|
NM_005422.4(TECTA):c.1794G>C (p.Pro598=)
|
rs570667892
|
0.00003
|
NM_005881.4(BCKDK):c.654C>T (p.Val218=)
|
rs368040635
|
0.00003
|
NM_006946.4(SPTBN2):c.1524C>T (p.Asn508=)
|
rs774837229
|
0.00003
|
NM_006946.4(SPTBN2):c.1768G>A (p.Val590Ile)
|
rs780059779
|
0.00003
|
NM_006946.4(SPTBN2):c.3448C>T (p.Leu1150=)
|
rs374741931
|
0.00003
|
NM_006946.4(SPTBN2):c.3801G>A (p.Ala1267=)
|
rs776179938
|
0.00003
|
NM_006946.4(SPTBN2):c.5736C>G (p.Phe1912Leu)
|
rs202247290
|
0.00003
|
NM_006946.4(SPTBN2):c.5983C>T (p.Arg1995Cys)
|
rs374895441
|
0.00003
|
NM_006946.4(SPTBN2):c.945G>A (p.Ser315=)
|
rs758056414
|
0.00003
|
NM_007254.4(PNKP):c.789G>A (p.Thr263=)
|
rs768661843
|
0.00003
|
NM_013275.6(ANKRD11):c.375C>T (p.Ala125=)
|
rs768468182
|
0.00003
|
NM_013275.6(ANKRD11):c.6792C>T (p.Pro2264=)
|
rs778726288
|
0.00003
|
NM_014363.6(SACS):c.11280G>A (p.Thr3760=)
|
rs193116488
|
0.00003
|
NM_014363.6(SACS):c.5946A>G (p.Gly1982=)
|
rs746358078
|
0.00003
|
NM_014363.6(SACS):c.789C>T (p.Asn263=)
|
rs771920263
|
0.00003
|
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)
|
rs370363342
|
0.00003
|
NM_015046.7(SETX):c.5781+9T>C
|
rs772671321
|
0.00003
|
NM_018075.5(ANO10):c.1401G>T (p.Val467=)
|
rs149580265
|
0.00003
|
NM_018075.5(ANO10):c.1962C>T (p.Ser654=)
|
rs756170502
|
0.00003
|
NM_018109.4(MTPAP):c.486C>T (p.Arg162=)
|
rs150489876
|
0.00003
|
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=)
|
rs779012601
|
0.00003
|
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
|
rs147797471
|
0.00003
|
NM_032737.4(LMNB2):c.1278C>T (p.Ser426=)
|
rs202012198
|
0.00003
|
NM_130839.5(UBE3A):c.582A>G (p.Ala194=)
|
rs764101035
|
0.00003
|
NM_145207.3(AFG2A):c.1677C>T (p.Tyr559=)
|
rs139834687
|
0.00003
|
NM_145239.3(PRRT2):c.-30T>C
|
rs202072359
|
0.00003
|
NM_170665.4(ATP2A2):c.2577C>T (p.Asp859=)
|
rs139307921
|
0.00003
|
NM_173500.4(TTBK2):c.108C>T (p.Tyr36=)
|
rs56234199
|
0.00003
|
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)
|
rs576737530
|
0.00003
|
NM_175914.5(HNF4A):c.1064-18G>A
|
rs773235761
|
0.00003
|
NM_175914.5(HNF4A):c.396G>A (p.Ala132=)
|
rs370329321
|
0.00003
|
NM_182961.4(SYNE1):c.10380T>C (p.Tyr3460=)
|
rs781430746
|
0.00003
|
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=)
|
rs138882800
|
0.00003
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00003
|
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=)
|
rs750669148
|
0.00003
|
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)
|
rs771168722
|
0.00003
|
NM_198994.3(TGM6):c.1527C>T (p.His509=)
|
rs748042241
|
0.00003
|
NM_201384.3(PLEC):c.2550C>G (p.Ala850=)
|
rs376777606
|
0.00003
|
NM_201384.3(PLEC):c.3501C>T (p.His1167=)
|
rs782038506
|
0.00003
|
NM_000089.4(COL1A2):c.280-8C>T
|
rs371996944
|
0.00002
|
NM_000091.5(COL4A3):c.1131C>T (p.Pro377=)
|
rs764659723
|
0.00002
|
NM_000231.3(SGCG):c.735C>T (p.Pro245=)
|
rs373785384
|
0.00002
|
NM_000257.4(MYH7):c.5730G>A (p.Ala1910=)
|
rs776940948
|
0.00002
|
NM_000335.5(SCN5A):c.4854G>A (p.Pro1618=)
|
rs368031564
|
0.00002
|
NM_000435.3(NOTCH3):c.4233C>T (p.Gly1411=)
|
rs766249401
|
0.00002
|
NM_000435.3(NOTCH3):c.6411G>A (p.Leu2137=)
|
rs770123435
|
0.00002
|
NM_000545.8(HNF1A):c.978G>A (p.Ala326=)
|
rs200351196
|
0.00002
|
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=)
|
rs794727118
|
0.00002
|
NM_000726.5(CACNB4):c.681G>A (p.Pro227=)
|
rs1405201747
|
0.00002
|
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=)
|
rs771343931
|
0.00002
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
0.00002
|
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser)
|
rs371190262
|
0.00002
|
NM_001009944.3(PKD1):c.10890G>A (p.Leu3630=)
|
rs776822071
|
0.00002
|
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met)
|
rs552292318
|
0.00002
|
NM_001079872.2(CUL4B):c.1722C>T (p.Ile574=)
|
rs142211300
|
0.00002
|
NM_001110792.2(MECP2):c.189C>T (p.His63=)
|
rs267608432
|
0.00002
|
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=)
|
rs41276888
|
0.00002
|
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)
|
rs373678395
|
0.00002
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
0.00002
|
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met)
|
rs537982877
|
0.00002
|
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=)
|
rs200501726
|
0.00002
|
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=)
|
rs775305903
|
0.00002
|
NM_001267550.2(TTN):c.104711G>A (p.Arg34904Lys)
|
rs780506196
|
0.00002
|
NM_001267550.2(TTN):c.15459C>T (p.Val5153=)
|
rs762428326
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.44157T>C (p.Asp14719=)
|
rs760908766
|
0.00002
|
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)
|
rs757006832
|
0.00002
|
NM_001267550.2(TTN):c.48684C>T (p.Arg16228=)
|
rs529418633
|
0.00002
|
NM_001267550.2(TTN):c.52018C>T (p.Leu17340Phe)
|
rs770603604
|
0.00002
|
NM_001267550.2(TTN):c.82152G>A (p.Ala27384=)
|
rs771905375
|
0.00002
|
NM_001278064.2(GRM1):c.1494A>G (p.Gly498=)
|
rs767873257
|
0.00002
|
NM_001365999.1(SZT2):c.3243T>C (p.His1081=)
|
rs200981894
|
0.00002
|
NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=)
|
rs762115057
|
0.00002
|
NM_001378452.1(ITPR1):c.4719C>G (p.Leu1573=)
|
rs375679048
|
0.00002
|
NM_001378452.1(ITPR1):c.6300C>G (p.Ala2100=)
|
rs974085034
|
0.00002
|
NM_001378969.1(KCND3):c.321C>A (p.Arg107=)
|
rs746952612
|
0.00002
|
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=)
|
rs139914666
|
0.00002
|
NM_001961.4(EEF2):c.1293G>A (p.Gly431=)
|
rs745557210
|
0.00002
|
NM_001961.4(EEF2):c.837C>T (p.Ser279=)
|
rs763528172
|
0.00002
|
NM_002087.4(GRN):c.421G>A (p.Val141Ile)
|
rs63749853
|
0.00002
|
NM_002087.4(GRN):c.723C>T (p.Ser241=)
|
rs200408271
|
0.00002
|
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg)
|
rs200747448
|
0.00002
|
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val)
|
rs199580679
|
0.00002
|
NM_002693.3(POLG):c.3219G>A (p.Pro1073=)
|
rs770800532
|
0.00002
|
NM_002739.5(PRKCG):c.1899C>T (p.Pro633=)
|
rs367543219
|
0.00002
|
NM_002739.5(PRKCG):c.522C>T (p.His174=)
|
rs200879722
|
0.00002
|
NM_003119.4(SPG7):c.1599G>A (p.Ala533=)
|
rs561746823
|
0.00002
|
NM_003482.4(KMT2D):c.3237A>C (p.Ser1079=)
|
rs751089758
|
0.00002
|
NM_004172.5(SLC1A3):c.1069A>G (p.Ile357Val)
|
rs532925070
|
0.00002
|
NM_004230.4(S1PR2):c.615C>T (p.Ile205=)
|
rs200948899
|
0.00002
|
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)
|
rs118192252
|
0.00002
|
NM_004977.3(KCNC3):c.1065C>T (p.Cys355=)
|
rs761297836
|
0.00002
|
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=)
|
rs770304914
|
0.00002
|
NM_005529.7(HSPG2):c.5637C>T (p.Pro1879=)
|
rs374865097
|
0.00002
|
NM_005529.7(HSPG2):c.6177G>A (p.Ser2059=)
|
rs200272505
|
0.00002
|
NM_005529.7(HSPG2):c.7836G>A (p.Ser2612=)
|
rs138703602
|
0.00002
|
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala)
|
rs200759046
|
0.00002
|
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=)
|
rs369017203
|
0.00002
|
NM_006946.4(SPTBN2):c.4405A>G (p.Lys1469Glu)
|
rs772124555
|
0.00002
|
NM_006946.4(SPTBN2):c.5220C>T (p.Ser1740=)
|
rs773962214
|
0.00002
|
NM_006946.4(SPTBN2):c.6513A>C (p.Ser2171=)
|
rs770250825
|
0.00002
|
NM_006946.4(SPTBN2):c.6906T>C (p.Asp2302=)
|
rs774217655
|
0.00002
|
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=)
|
rs757292994
|
0.00002
|
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=)
|
rs550517136
|
0.00002
|
NM_014855.3(AP5Z1):c.744G>A (p.Ala248=)
|
rs771896080
|
0.00002
|
NM_015046.7(SETX):c.1467C>T (p.Val489=)
|
rs142093830
|
0.00002
|
NM_018100.4(EFHC1):c.873A>G (p.Leu291=)
|
rs778432296
|
0.00002
|
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val)
|
rs372416792
|
0.00002
|
NM_020919.4(ALS2):c.468G>A (p.Ala156=)
|
rs145506395
|
0.00002
|
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=)
|
rs375199752
|
0.00002
|
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)
|
rs397517307
|
0.00002
|
NM_024334.3(TMEM43):c.600C>T (p.Val200=)
|
rs760323011
|
0.00002
|
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=)
|
rs758663546
|
0.00002
|
NM_152296.5(ATP1A3):c.729G>A (p.Thr243=)
|
rs374578592
|
0.00002
|
NM_170707.4(LMNA):c.1071C>T (p.Asp357=)
|
rs376875762
|
0.00002
|
NM_170707.4(LMNA):c.579T>C (p.Ala193=)
|
rs749728556
|
0.00002
|
NM_173500.4(TTBK2):c.3216G>A (p.Gln1072=)
|
rs765294536
|
0.00002
|
NM_173500.4(TTBK2):c.452G>A (p.Arg151His)
|
rs375070421
|
0.00002
|
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=)
|
rs750318922
|
0.00002
|
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)
|
rs773593843
|
0.00002
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)
|
rs757737346
|
0.00002
|
NM_182961.4(SYNE1):c.9591T>C (p.His3197=)
|
rs375436121
|
0.00002
|
NM_198994.3(TGM6):c.2019C>T (p.Thr673=)
|
rs779951018
|
0.00002
|
NM_201384.3(PLEC):c.12030C>T (p.Ala4010=)
|
rs372023641
|
0.00002
|
NM_201384.3(PLEC):c.2547C>T (p.Ala849=)
|
rs770364460
|
0.00002
|
NM_201384.3(PLEC):c.3141C>T (p.Ala1047=)
|
rs782511217
|
0.00002
|
NM_201384.3(PLEC):c.4944G>A (p.Ala1648=)
|
rs782665485
|
0.00002
|
NM_201384.3(PLEC):c.6546G>A (p.Ala2182=)
|
rs372009035
|
0.00002
|
NM_000051.4(ATM):c.2322T>C (p.Gly774=)
|
rs769575297
|
0.00001
|
NM_000051.4(ATM):c.2532A>G (p.Gly844=)
|
rs755261743
|
0.00001
|
NM_000051.4(ATM):c.2934T>G (p.Ser978=)
|
rs368678134
|
0.00001
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)
|
rs775850434
|
0.00001
|
NM_000051.4(ATM):c.8847A>G (p.Val2949=)
|
rs876658820
|
0.00001
|
NM_000091.5(COL4A3):c.504T>C (p.Asp168=)
|
rs748974369
|
0.00001
|
NM_000144.5(FXN):c.123C>T (p.Gly41=)
|
rs1057519131
|
0.00001
|
NM_000217.3(KCNA1):c.933C>A (p.Gly311=)
|
rs138351123
|
0.00001
|
NM_000268.4(NF2):c.543G>A (p.Pro181=)
|
rs139838280
|
0.00001
|
NM_000334.4(SCN4A):c.2223C>T (p.Arg741=)
|
rs1041781133
|
0.00001
|
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=)
|
rs367936207
|
0.00001
|
NM_000334.4(SCN4A):c.3204C>T (p.Ala1068=)
|
rs780229549
|
0.00001
|
NM_000334.4(SCN4A):c.3261C>T (p.Tyr1087=)
|
rs534552884
|
0.00001
|
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=)
|
rs747602881
|
0.00001
|
NM_000334.4(SCN4A):c.4590C>T (p.Phe1530=)
|
rs199824534
|
0.00001
|
NM_000368.5(TSC1):c.135G>A (p.Leu45=)
|
rs149278759
|
0.00001
|
NM_000370.3(TTPA):c.558A>G (p.Ser186=)
|
rs774283073
|
0.00001
|
NM_000435.3(NOTCH3):c.1977T>C (p.Asn659=)
|
rs542505184
|
0.00001
|
NM_000435.3(NOTCH3):c.2091T>C (p.His697=)
|
rs752741204
|
0.00001
|
NM_000435.3(NOTCH3):c.300C>G (p.Gly100=)
|
rs764852292
|
0.00001
|
NM_000435.3(NOTCH3):c.3858C>T (p.Cys1286=)
|
rs1270546423
|
0.00001
|
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=)
|
rs749616364
|
0.00001
|
NM_000435.3(NOTCH3):c.6025C>T (p.Arg2009Trp)
|
rs151322770
|
0.00001
|
NM_000435.3(NOTCH3):c.6522G>C (p.Arg2174=)
|
rs1280248640
|
0.00001
|
NM_000435.3(NOTCH3):c.6546C>A (p.Gly2182=)
|
rs765248853
|
0.00001
|
NM_000451.4(SHOX):c.420T>C (p.His140=)
|
rs780800997
|
0.00001
|
NM_000489.6(ATRX):c.1449A>G (p.Gln483=)
|
rs1472962089
|
0.00001
|
NM_000545.8(HNF1A):c.537T>C (p.His179=)
|
rs765329757
|
0.00001
|
NM_000702.4(ATP1A2):c.1611T>C (p.Asn537=)
|
rs779032958
|
0.00001
|
NM_001005361.3(DNM2):c.1071C>T (p.Ser357=)
|
rs779241319
|
0.00001
|
NM_001005361.3(DNM2):c.1872C>T (p.Gly624=)
|
rs774256221
|
0.00001
|
NM_001009944.3(PKD1):c.10773C>T (p.Ser3591=)
|
rs1168845943
|
0.00001
|
NM_001009944.3(PKD1):c.3148G>A (p.Glu1050Lys)
|
rs572950870
|
0.00001
|
NM_001009944.3(PKD1):c.3390T>G (p.Ala1130=)
|
rs769998736
|
0.00001
|
NM_001009944.3(PKD1):c.4339G>A (p.Ala1447Thr)
|
rs535676910
|
0.00001
|
NM_001009944.3(PKD1):c.4662T>C (p.Asn1554=)
|
rs778135756
|
0.00001
|
NM_001009944.3(PKD1):c.4815C>T (p.Gly1605=)
|
rs149561527
|
0.00001
|
NM_001009944.3(PKD1):c.6096C>T (p.Ala2032=)
|
rs776890572
|
0.00001
|
NM_001009944.3(PKD1):c.6306G>A (p.Gly2102=)
|
rs368223012
|
0.00001
|
NM_001009944.3(PKD1):c.6573C>T (p.Arg2191=)
|
rs949370419
|
0.00001
|
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn)
|
rs778565182
|
0.00001
|
NM_001039876.3(SYNE4):c.972+5G>A
|
rs369269989
|
0.00001
|
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=)
|
rs778687698
|
0.00001
|
NM_001099922.3(ALG13):c.1869C>T (p.His623=)
|
rs747208594
|
0.00001
|
NM_001126108.2(SLC12A3):c.2910T>A (p.Ala970=)
|
rs755684695
|
0.00001
|
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly)
|
rs538079885
|
0.00001
|
NM_001127222.2(CACNA1A):c.2811G>T (p.Gly937=)
|
rs1322679497
|
0.00001
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
NM_001127222.2(CACNA1A):c.632-8C>T
|
rs762951690
|
0.00001
|
NM_001130987.2(DYSF):c.5403G>A (p.Pro1801=)
|
rs771738959
|
0.00001
|
NM_001145809.2(MYH14):c.1164G>A (p.Leu388=)
|
rs1373649544
|
0.00001
|
NM_001161352.2(KCNMA1):c.930G>A (p.Thr310=)
|
rs1486636115
|
0.00001
|
NM_001164508.2(NEB):c.9723+7G>A
|
rs557480322
|
0.00001
|
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=)
|
rs374555589
|
0.00001
|
NM_001166114.2(PNPLA6):c.2523C>T (p.Ile841=)
|
rs375484169
|
0.00001
|
NM_001166114.2(PNPLA6):c.946C>A (p.Arg316=)
|
rs1352475389
|
0.00001
|
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=)
|
rs750100459
|
0.00001
|
NM_001244008.2(KIF1A):c.4908C>T (p.Pro1636=)
|
rs759393763
|
0.00001
|
NM_001267550.2(TTN):c.10434C>T (p.Asn3478=)
|
rs749590376
|
0.00001
|
NM_001267550.2(TTN):c.20841C>T (p.Pro6947=)
|
rs768971707
|
0.00001
|
NM_001267550.2(TTN):c.33594C>T (p.Pro11198=)
|
rs1553829479
|
0.00001
|
NM_001267550.2(TTN):c.47481G>A (p.Gln15827=)
|
rs752514306
|
0.00001
|
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)
|
rs749678590
|
0.00001
|
NM_001267550.2(TTN):c.48783T>C (p.Asp16261=)
|
rs574915586
|
0.00001
|
NM_001267550.2(TTN):c.50511A>T (p.Pro16837=)
|
rs574553890
|
0.00001
|
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)
|
rs370091658
|
0.00001
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
NM_001267550.2(TTN):c.852G>T (p.Ser284=)
|
rs768340304
|
0.00001
|
NM_001278064.2(GRM1):c.33G>C (p.Ala11=)
|
rs199734282
|
0.00001
|
NM_001365536.1(SCN9A):c.4953C>G (p.Leu1651=)
|
rs776545037
|
0.00001
|
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)
|
rs758404089
|
0.00001
|
NM_001376.5(DYNC1H1):c.13422C>T (p.Thr4474=)
|
rs765088845
|
0.00001
|
NM_001376.5(DYNC1H1):c.13749C>T (p.Thr4583=)
|
rs746971715
|
0.00001
|
NM_001378452.1(ITPR1):c.1719T>C (p.Tyr573=)
|
rs752379221
|
0.00001
|
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=)
|
rs766131451
|
0.00001
|
NM_001378452.1(ITPR1):c.5835C>T (p.Asp1945=)
|
rs201949292
|
0.00001
|
NM_001378452.1(ITPR1):c.6069T>C (p.Thr2023=)
|
rs374602663
|
0.00001
|
NM_001378452.1(ITPR1):c.6603G>A (p.Thr2201=)
|
rs149339933
|
0.00001
|
NM_001379110.1(SLC9A6):c.1863G>A (p.Pro621=)
|
rs782665428
|
0.00001
|
NM_001386393.1(PANK2):c.384A>G (p.Glu128=)
|
rs1168477276
|
0.00001
|
NM_001540.5(HSPB1):c.117G>A (p.Pro39=)
|
rs752555764
|
0.00001
|
NM_001961.4(EEF2):c.1479C>T (p.Asn493=)
|
rs765482573
|
0.00001
|
NM_001961.4(EEF2):c.1725G>A (p.Pro575=)
|
rs566897549
|
0.00001
|
NM_001961.4(EEF2):c.2241G>A (p.Val747=)
|
rs772173797
|
0.00001
|
NM_001961.4(EEF2):c.2383+8C>T
|
rs1373752390
|
0.00001
|
NM_001961.4(EEF2):c.746G>A (p.Arg249Gln)
|
rs769755490
|
0.00001
|
NM_001961.4(EEF2):c.801C>T (p.Asp267=)
|
rs781779965
|
0.00001
|
NM_002047.4(GARS1):c.1782T>C (p.His594=)
|
rs762072215
|
0.00001
|
NM_002047.4(GARS1):c.843G>A (p.Met281Ile)
|
rs545669679
|
0.00001
|
NM_002160.4(TNC):c.1477G>A (p.Gly493Arg)
|
rs542499079
|
0.00001
|
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile)
|
rs527639885
|
0.00001
|
NM_002473.6(MYH9):c.4638C>T (p.Asp1546=)
|
rs727503283
|
0.00001
|
NM_002693.3(POLG):c.54G>C (p.Pro18=)
|
rs1378670216
|
0.00001
|
NM_003042.4(SLC6A1):c.1545T>C (p.Ser515=)
|
rs777735831
|
0.00001
|
NM_003289.4(TPM2):c.564-9C>T
|
rs763429317
|
0.00001
|
NM_003482.4(KMT2D):c.4167G>A (p.Gly1389=)
|
rs1237635545
|
0.00001
|
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=)
|
rs374077422
|
0.00001
|
NM_004004.6(GJB2):c.546G>A (p.Val182=)
|
rs752236261
|
0.00001
|
NM_004393.6(DAG1):c.1785C>T (p.Val595=)
|
rs762148188
|
0.00001
|
NM_004519.4(KCNQ3):c.2562G>A (p.Ser854=)
|
rs201736771
|
0.00001
|
NM_004700.4(KCNQ4):c.1614-9C>T
|
rs746781318
|
0.00001
|
NM_004977.3(KCNC3):c.2139T>C (p.Tyr713=)
|
rs772962111
|
0.00001
|
NM_004984.4(KIF5A):c.1294-7C>T
|
rs200535153
|
0.00001
|
NM_004984.4(KIF5A):c.2004G>A (p.Leu668=)
|
rs778038642
|
0.00001
|
NM_004984.4(KIF5A):c.2112G>A (p.Glu704=)
|
rs918777253
|
0.00001
|
NM_005045.4(RELN):c.1092C>T (p.Leu364=)
|
rs142192165
|
0.00001
|
NM_005249.5(FOXG1):c.501G>A (p.Glu167=)
|
rs773297334
|
0.00001
|
NM_005445.4(SMC3):c.3228G>A (p.Glu1076=)
|
rs768560730
|
0.00001
|
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=)
|
rs540961117
|
0.00001
|
NM_005529.7(HSPG2):c.8172C>T (p.Gly2724=)
|
rs773666902
|
0.00001
|
NM_005591.4(MRE11):c.1086T>C (p.Leu362=)
|
rs786201488
|
0.00001
|
NM_005591.4(MRE11):c.411A>G (p.Ala137=)
|
rs776033471
|
0.00001
|
NM_005660.3(SLC35A2):c.93T>C (p.Ala31=)
|
rs1569511600
|
0.00001
|
NM_005982.4(SIX1):c.560+7G>C
|
rs767884287
|
0.00001
|
NM_006030.4(CACNA2D2):c.2370C>T (p.His790=)
|
rs907103784
|
0.00001
|
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)
|
rs551015841
|
0.00001
|
NM_006796.3(AFG3L2):c.342C>T (p.Gly114=)
|
rs1370183248
|
0.00001
|
NM_006946.4(SPTBN2):c.1836G>A (p.Val612=)
|
rs770762674
|
0.00001
|
NM_006946.4(SPTBN2):c.3355A>C (p.Ser1119Arg)
|
rs760806416
|
0.00001
|
NM_006946.4(SPTBN2):c.4560G>A (p.Leu1520=)
|
rs775472534
|
0.00001
|
NM_006946.4(SPTBN2):c.5892C>T (p.Ser1964=)
|
rs968815191
|
0.00001
|
NM_006946.4(SPTBN2):c.855C>A (p.Ala285=)
|
rs373123134
|
0.00001
|
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=)
|
rs146635766
|
0.00001
|
NM_013275.6(ANKRD11):c.6810C>T (p.Ala2270=)
|
rs1210625952
|
0.00001
|
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)
|
rs369654108
|
0.00001
|
NM_014159.7(SETD2):c.1603A>G (p.Asn535Asp)
|
rs778603109
|
0.00001
|
NM_014363.6(SACS):c.10731A>G (p.Thr3577=)
|
rs759287298
|
0.00001
|
NM_014363.6(SACS):c.12585A>G (p.Gly4195=)
|
rs200305087
|
0.00001
|
NM_014363.6(SACS):c.13590T>C (p.Gly4530=)
|
rs1388411074
|
0.00001
|
NM_014363.6(SACS):c.2289A>G (p.Gln763=)
|
rs765734527
|
0.00001
|
NM_014363.6(SACS):c.4899A>T (p.Val1633=)
|
rs146419598
|
0.00001
|
NM_014363.6(SACS):c.5337G>A (p.Ser1779=)
|
rs767529590
|
0.00001
|
NM_014363.6(SACS):c.7833G>A (p.Thr2611=)
|
rs1237743096
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_014365.3(HSPB8):c.375T>C (p.His125=)
|
rs923916572
|
0.00001
|
NM_014845.6(FIG4):c.1350C>G (p.Arg450=)
|
rs763035100
|
0.00001
|
NM_014845.6(FIG4):c.2238G>A (p.Pro746=)
|
rs753867543
|
0.00001
|
NM_014855.3(AP5Z1):c.1551T>C (p.Leu517=)
|
rs779395048
|
0.00001
|
NM_014855.3(AP5Z1):c.327C>T (p.Ser109=)
|
rs773974454
|
0.00001
|
NM_014855.3(AP5Z1):c.54C>T (p.Asp18=)
|
rs752985436
|
0.00001
|
NM_014874.4(MFN2):c.1824C>T (p.Ala608=)
|
rs774988978
|
0.00001
|
NM_015046.7(SETX):c.7266C>T (p.Leu2422=)
|
rs201544137
|
0.00001
|
NM_015295.3(SMCHD1):c.2433T>G (p.Ser811=)
|
rs760899591
|
0.00001
|
NM_017739.4(POMGNT1):c.1005T>A (p.Val335=)
|
rs749046557
|
0.00001
|
NM_017739.4(POMGNT1):c.735A>G (p.Pro245=)
|
rs139266745
|
0.00001
|
NM_018075.5(ANO10):c.1716G>A (p.Ala572=)
|
rs746207433
|
0.00001
|
NM_018075.5(ANO10):c.312C>G (p.Thr104=)
|
rs757830418
|
0.00001
|
NM_018100.4(EFHC1):c.*25A>T
|
rs771508456
|
0.00001
|
NM_018109.4(MTPAP):c.1260A>G (p.Thr420=)
|
rs1390957889
|
0.00001
|
NM_018109.4(MTPAP):c.657C>T (p.Ala219=)
|
rs141852492
|
0.00001
|
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys)
|
rs138727329
|
0.00001
|
NM_018319.4(TDP1):c.429C>T (p.Asp143=)
|
rs935815187
|
0.00001
|
NM_020247.5(COQ8A):c.13T>C (p.Leu5=)
|
rs564251019
|
0.00001
|
NM_020247.5(COQ8A):c.912G>A (p.Ala304=)
|
rs771956000
|
0.00001
|
NM_020822.3(KCNT1):c.285C>T (p.Asn95=)
|
rs558966732
|
0.00001
|
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=)
|
rs765432746
|
0.00001
|
NM_021008.4(DEAF1):c.549C>T (p.Pro183=)
|
rs767648103
|
0.00001
|
NM_021008.4(DEAF1):c.720T>C (p.Phe240=)
|
rs1271364831
|
0.00001
|
NM_021098.3(CACNA1H):c.6371C>T (p.Pro2124Leu)
|
rs372453886
|
0.00001
|
NM_022464.5(SIL1):c.795C>T (p.Ile265=)
|
rs746589509
|
0.00001
|
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)
|
rs748870159
|
0.00001
|
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)
|
rs762263591
|
0.00001
|
NM_024884.3(L2HGDH):c.456A>G (p.Leu152=)
|
rs1409566292
|
0.00001
|
NM_030665.4(RAI1):c.4681C>A (p.Arg1561=)
|
rs750728463
|
0.00001
|
NM_030962.4(SBF2):c.4779C>A (p.Ser1593=)
|
rs1054455232
|
0.00001
|
NM_030962.4(SBF2):c.936A>G (p.Pro312=)
|
rs765770300
|
0.00001
|
NM_054027.6(ANKH):c.870C>T (p.Tyr290=)
|
rs111688928
|
0.00001
|
NM_138691.3(TMC1):c.1626G>A (p.Gly542=)
|
rs778829243
|
0.00001
|
NM_152564.5(VPS13B):c.10941C>T (p.Ala3647=)
|
rs781760595
|
0.00001
|
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys)
|
rs397517880
|
0.00001
|
NM_172107.4(KCNQ2):c.2172G>A (p.Pro724=)
|
rs368268958
|
0.00001
|
NM_173500.4(TTBK2):c.1051C>A (p.Gln351Lys)
|
rs908445283
|
0.00001
|
NM_173500.4(TTBK2):c.3357T>G (p.Ser1119=)
|
rs745306977
|
0.00001
|
NM_175929.3(FGF14):c.69C>T (p.Leu23=)
|
rs775136913
|
0.00001
|
NM_181882.3(PRX):c.3351C>T (p.Ala1117=)
|
rs535934188
|
0.00001
|
NM_182914.3(SYNE2):c.10332G>A (p.Ser3444=)
|
rs1200933436
|
0.00001
|
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=)
|
rs772377391
|
0.00001
|
NM_182961.4(SYNE1):c.11739T>C (p.His3913=)
|
rs781207811
|
0.00001
|
NM_182961.4(SYNE1):c.12435C>T (p.Tyr4145=)
|
rs1167024658
|
0.00001
|
NM_182961.4(SYNE1):c.12832T>C (p.Leu4278=)
|
rs749626940
|
0.00001
|
NM_182961.4(SYNE1):c.13368C>T (p.Thr4456=)
|
rs141847989
|
0.00001
|
NM_182961.4(SYNE1):c.13476A>G (p.Gln4492=)
|
rs758900989
|
0.00001
|
NM_182961.4(SYNE1):c.15072C>T (p.Asp5024=)
|
rs772100783
|
0.00001
|
NM_182961.4(SYNE1):c.15231T>G (p.Ser5077=)
|
rs376561555
|
0.00001
|
NM_182961.4(SYNE1):c.15288G>A (p.Leu5096=)
|
rs1285737921
|
0.00001
|
NM_182961.4(SYNE1):c.18214T>C (p.Leu6072=)
|
rs747009172
|
0.00001
|
NM_182961.4(SYNE1):c.18327G>A (p.Ala6109=)
|
rs148518750
|
0.00001
|
NM_182961.4(SYNE1):c.8820G>T (p.Thr2940=)
|
rs769247891
|
0.00001
|
NM_182961.4(SYNE1):c.8844C>T (p.Val2948=)
|
rs750603610
|
0.00001
|
NM_182961.4(SYNE1):c.8994C>T (p.Cys2998=)
|
rs143974384
|
0.00001
|
NM_182961.4(SYNE1):c.9915A>G (p.Ser3305=)
|
rs764114386
|
0.00001
|
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)
|
rs759403157
|
0.00001
|
NM_198994.3(TGM6):c.1191C>T (p.Ala397=)
|
rs147554438
|
0.00001
|
NM_198994.3(TGM6):c.1371G>A (p.Ala457=)
|
rs187699549
|
0.00001
|
NM_198994.3(TGM6):c.687C>T (p.Asn229=)
|
rs370489062
|
0.00001
|
NM_201384.3(PLEC):c.1434C>T (p.His478=)
|
rs782751690
|
0.00001
|
NM_201384.3(PLEC):c.2612+10G>A
|
rs539801615
|
0.00001
|
NM_201384.3(PLEC):c.33C>T (p.Pro11=)
|
rs782425242
|
0.00001
|
NM_201384.3(PLEC):c.7161G>A (p.Leu2387=)
|
rs781982762
|
0.00001
|
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=)
|
rs768769972
|
0.00001
|
NM_203446.3(SYNJ1):c.3324G>A (p.Pro1108=)
|
rs757804939
|
0.00001
|
NC_012920.1(MT-CO1):m.6254A>G
|
rs1603220367
|
|
NC_012920.1(MT-CO1):m.6626T>C
|
rs1556423161
|
|
NC_012920.1(MT-CO1):m.6896T>C
|
rs1603220671
|
|
NC_012920.1(MT-CYB):m.721T>C
|
rs1556422479
|
|
NC_012920.1(MT-CYB):m.8348A>G
|
rs1556423430
|
|
NC_012920.1(MT-ND1):m.3504T>C
|
rs1603218988
|
|
NC_012920.1(MT-ND1):m.3555T>C
|
rs1603219017
|
|
NC_012920.1(MT-ND1):m.3669A>G
|
rs386828918
|
|
NC_012920.1(MT-ND1):m.4167C>T
|
rs1603219333
|
|
NC_012920.1(MT-ND1):m.4242C>T
|
rs1603219372
|
|
NM_000051.4(ATM):c.4731T>A (p.Thr1577=)
|
rs145236132
|
|
NM_000051.4(ATM):c.6762C>T (p.His2254=)
|
rs563933875
|
|
NM_000051.4(ATM):c.6999A>G (p.Thr2333=)
|
rs759267807
|
|
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=)
|
rs763965450
|
|
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)
|
rs150590855
|
|
NM_000091.5(COL4A3):c.261G>A (p.Thr87=)
|
rs369517619
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000142.5(FGFR3):c.912C>G (p.Pro304=)
|
rs201012537
|
|
NM_000209.4(PDX1):c.312C>T (p.Ala104=)
|
rs535722487
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
NM_000238.4(KCNH2):c.77-5C>G
|
rs72549419
|
|
NM_000297.4(PKD2):c.468G>T (p.Arg156=)
|
rs2110080600
|
|
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=)
|
rs749942058
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000344.4(SMN1):c.651A>G (p.Pro217=)
|
rs2112811770
|
|
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)
|
rs371089976
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
NM_000383.4(AIRE):c.799-17G>A
|
rs72650675
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
|
rs35065563
|
|
NM_000426.4(LAMA2):c.3570T>C (p.Ala1190=)
|
rs373757863
|
|
NM_000435.3(NOTCH3):c.1293T>C (p.Asp431=)
|
rs2145436227
|
|
NM_000435.3(NOTCH3):c.1620G>A (p.Thr540=)
|
rs75617410
|
|
NM_000435.3(NOTCH3):c.2169C>G (p.Gly723=)
|
rs771519821
|
|
NM_000435.3(NOTCH3):c.2739G>A (p.Pro913=)
|
rs763718957
|
|
NM_000435.3(NOTCH3):c.2773C>G (p.Leu925Val)
|
rs184033385
|
|
NM_000435.3(NOTCH3):c.3504A>T (p.Pro1168=)
|
rs1218422734
|
|
NM_000435.3(NOTCH3):c.6030C>T (p.Asp2010=)
|
rs767028544
|
|
NM_000435.3(NOTCH3):c.6294G>T (p.Thr2098=)
|
rs558864862
|
|
NM_000435.3(NOTCH3):c.6786C>T (p.Ser2262=)
|
rs1378552176
|
|
NM_000451.4(SHOX):c.-9del
|
rs778186580
|
|
NM_000451.4(SHOX):c.486+8C>G
|
rs374705909
|
|
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del)
|
rs776789883
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.972C>T (p.His324=)
|
rs753631084
|
|
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=)
|
rs4998902
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.306C>T (p.Ala102=)
|
rs1486966222
|
|
NM_000548.5(TSC2):c.1257+10C>G
|
rs756063576
|
|
NM_000548.5(TSC2):c.3351G>A (p.Gly1117=)
|
rs1596386166
|
|
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=)
|
rs1555441528
|
|
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=)
|
rs1051771
|
|
NM_000726.5(CACNB4):c.40G>A (p.Gly14Arg)
|
rs573977862
|
|
NM_000742.4(CHRNA2):c.1068C>A (p.Ser356=)
|
rs745774113
|
|
NM_000748.3(CHRNB2):c.777A>T (p.Pro259=)
|
rs770431355
|
|
NM_000834.5(GRIN2B):c.813G>A (p.Ala271=)
|
rs201732785
|
|
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=)
|
rs745763060
|
|
NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=)
|
rs572474052
|
|
NM_001009944.3(PKD1):c.11199C>T (p.Pro3733=)
|
rs1596484465
|
|
NM_001009944.3(PKD1):c.11643C>T (p.Ala3881=)
|
rs1555445526
|
|
NM_001009944.3(PKD1):c.11955C>G (p.Ser3985=)
|
rs369544915
|
|
NM_001009944.3(PKD1):c.12162C>T (p.Ser4054=)
|
rs143802974
|
|
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=)
|
rs375443308
|
|
NM_001009944.3(PKD1):c.2010G>C (p.Thr670=)
|
rs752795943
|
|
NM_001042432.2(CLN3):c.582G>T (p.Leu194=)
|
rs386833734
|
|
NM_001042472.3(ABHD12):c.788-10_788-7del
|
rs565270893
|
|
NM_001083961.2(WDR62):c.831C>T (p.Leu277=)
|
rs549410799
|
|
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)
|
rs77132068
|
|
NM_001122955.4(BSCL2):c.486+8T>G
|
rs1238731769
|
|
NM_001122955.4(BSCL2):c.783A>G (p.Gly261=)
|
rs1565144454
|
|
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)
|
rs201311000
|
|
NM_001127222.2(CACNA1A):c.7426T>C (p.Tyr2476His)
|
rs779631503
|
|
NM_001127453.2(GSDME):c.1122C>G (p.Pro374=)
|
rs138980048
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=)
|
rs372831978
|
|
NM_001135022.2(ELMOD3):c.828G>A (p.Arg276=)
|
rs2104756441
|
|
NM_001146262.4(SYT14):c.285G>A (p.Ala95=)
|
rs141974517
|
|
NM_001146262.4(SYT14):c.285G>T (p.Ala95=)
|
rs141974517
|
|
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)
|
rs1484259264
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
NM_001164508.2(NEB):c.20263-7dup
|
rs763008896
|
|
NM_001164508.2(NEB):c.24177A>G (p.Arg8059=)
|
rs1030563077
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])
|
rs397516634
|
|
NM_001243133.2(NLRP3):c.270G>A (p.Pro90=)
|
rs771343047
|
|
NM_001267550.2(TTN):c.12078G>C (p.Leu4026=)
|
rs926556907
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
NM_001267550.2(TTN):c.20619A>G (p.Leu6873=)
|
rs2079201822
|
|
NM_001267550.2(TTN):c.23443C>A (p.Arg7815=)
|
rs528264100
|
|
NM_001267550.2(TTN):c.23853C>T (p.Ala7951=)
|
rs201766927
|
|
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe)
|
rs550882549
|
|
NM_001267550.2(TTN):c.27498G>T (p.Ser9166=)
|
rs372528823
|
|
NM_001267550.2(TTN):c.39833AGA[1] (p.Lys13279del)
|
rs765355244
|
|
NM_001267550.2(TTN):c.39965C>G (p.Ala13322Gly)
|
rs552545514
|
|
NM_001267550.2(TTN):c.42468T>C (p.Gly14156=)
|
rs774061049
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
NM_001267550.2(TTN):c.44475A>T (p.Val14825=)
|
rs1576607946
|
|
NM_001267550.2(TTN):c.59478T>C (p.Asp19826=)
|
rs764950470
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
NM_001267550.2(TTN):c.83457T>C (p.Asn27819=)
|
rs768758920
|
|
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)
|
rs758336721
|
|
NM_001365999.1(SZT2):c.2916G>T (p.Pro972=)
|
rs758017419
|
|
NM_001376.5(DYNC1H1):c.2346C>T (p.Ile782=)
|
rs375810066
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378452.1(ITPR1):c.5910C>T (p.Val1970=)
|
rs753430331
|
|
NM_001378969.1(KCND3):c.228C>T (p.Asn76=)
|
rs758608445
|
|
NM_001378969.1(KCND3):c.429C>T (p.Asn143=)
|
rs1447033826
|
|
NM_001378969.1(KCND3):c.492C>T (p.Ser164=)
|
rs1170371506
|
|
NM_001378969.1(KCND3):c.633G>A (p.Pro211=)
|
rs35131566
|
|
NM_001378969.1(KCND3):c.906C>G (p.Arg302=)
|
rs575946174
|
|
NM_001540.5(HSPB1):c.365-5C>T
|
rs368936457
|
|
NM_001961.4(EEF2):c.1714-6T>C
|
rs2039700420
|
|
NM_001961.4(EEF2):c.1896G>A (p.Ala632=)
|
rs373062093
|
|
NM_001961.4(EEF2):c.2460G>T (p.Leu820=)
|
rs145279867
|
|
NM_002693.3(POLG):c.126GCA[15] (p.Gln52_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.1905G>A (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.1905G>T (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.2109C>T (p.Ala703=)
|
rs2307429
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)
|
rs144346886
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.856-17CTC[4]
|
rs200056162
|
|
NM_002693.3(POLG):c.975C>A (p.Pro325=)
|
rs551973680
|
|
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)
|
rs752009611
|
|
NM_004070.4(CLCNKA):c.1500C>T (p.Pro500=)
|
rs143389794
|
|
NM_004082.5(DCTN1):c.858G>C (p.Ala286=)
|
rs151107870
|
|
NM_004115.4(FGF14):c.650C>T (p.Thr217Met)
|
rs535952842
|
|
NM_004172.5(SLC1A3):c.1065A>T (p.Ala355=)
|
rs765536752
|
|
NM_004281.4(BAG3):c.465_467dup (p.Ala160_Gln161insAla)
|
|
|
NM_004568.6(SERPINB6):c.705G>C (p.Pro235=)
|
rs111416638
|
|
NM_004738.5(VAPB):c.156C>T (p.Tyr52=)
|
rs749580878
|
|
NM_004960.3(FUS):c.515_523+3del
|
|
|
NM_004960.4(FUS):c.681_689del (p.Gly229_Gly231del)
|
rs767564995
|
|
NM_004977.3(KCNC3):c.1098C>A (p.Arg366=)
|
rs1455550384
|
|
NM_004977.3(KCNC3):c.1878G>A (p.Gly626=)
|
rs570469383
|
|
NM_004977.3(KCNC3):c.2130C>T (p.Leu710=)
|
rs1568570611
|
|
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly)
|
rs55656324
|
|
NM_005249.5(FOXG1):c.1203C>T (p.Ser401=)
|
rs201024952
|
|
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln)
|
rs78944354
|
|
NM_005529.7(HSPG2):c.13011C>T (p.Ala4337=)
|
rs1263243391
|
|
NM_005529.7(HSPG2):c.13089G>A (p.Ser4363=)
|
rs573792702
|
|
NM_005529.7(HSPG2):c.6819C>T (p.His2273=)
|
rs151177187
|
|
NM_005529.7(HSPG2):c.8322C>A (p.Arg2774=)
|
rs761872191
|
|
NM_005529.7(HSPG2):c.8616+9G>C
|
rs189754659
|
|
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)
|
rs148637964
|
|
NM_006009.4(TUBA1A):c.*1del (p.Ter452=)
|
rs781483247
|
|
NM_006009.4(TUBA1A):c.1230G>C (p.Gly410=)
|
rs772809398
|
|
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln)
|
rs150931007
|
|
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg)
|
rs572648977
|
|
NM_006796.3(AFG3L2):c.215-11_215-6del
|
rs533823759
|
|
NM_006796.3(AFG3L2):c.786C>G (p.Leu262=)
|
rs1325788944
|
|
NM_006946.4(SPTBN2):c.3057T>C (p.Thr1019=)
|
rs141552726
|
|
NM_006946.4(SPTBN2):c.6896+9_6896+10del
|
rs762643466
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_007375.4(TARDBP):c.894T>C (p.Gly298=)
|
rs1643653811
|
|
NM_013275.6(ANKRD11):c.5773C>A (p.Pro1925Thr)
|
rs199914958
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
NM_014363.6(SACS):c.1662C>T (p.Ser554=)
|
rs185812845
|
|
NM_014363.6(SACS):c.6456T>C (p.Gly2152=)
|
rs747925179
|
|
NM_014363.6(SACS):c.8451G>A (p.Thr2817=)
|
rs749291377
|
|
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg)
|
rs35909818
|
|
NM_014625.4(NPHS2):c.451+9dup
|
rs542240453
|
|
NM_014795.4(ZEB2):c.593-9C>T
|
rs372216323
|
|
NM_014845.6(FIG4):c.2568G>A (p.Ser856=)
|
rs140055056
|
|
NM_014855.3(AP5Z1):c.2112G>A (p.Thr704=)
|
rs765844025
|
|
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg)
|
rs192794637
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.975C>G (p.Gly325=)
|
rs141475476
|
|
NM_015046.7(SETX):c.3651G>C (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
NM_015046.7(SETX):c.7749C>T (p.Asp2583=)
|
rs754701648
|
|
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
|
rs536241867
|
|
NM_015340.4(LARS2):c.1626T>C (p.Pro542=)
|
rs1352189510
|
|
NM_015340.4(LARS2):c.1938C>T (p.Asn646=)
|
rs138012553
|
|
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)
|
rs141880939
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477
|
|
NM_018075.5(ANO10):c.159A>G (p.Arg53=)
|
rs533186096
|
|
NM_018319.4(TDP1):c.135G>A (p.Arg45=)
|
rs1320830793
|
|
NM_018319.4(TDP1):c.621C>T (p.Asp207=)
|
rs746662161
|
|
NM_020247.5(COQ8A):c.1800C>G (p.Val600=)
|
rs74589348
|
|
NM_020919.4(ALS2):c.4818A>G (p.Leu1606=)
|
rs555220239
|
|
NM_021098.3(CACNA1H):c.1662C>G (p.Gly554=)
|
rs755913742
|
|
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=)
|
rs554718345
|
|
NM_021098.3(CACNA1H):c.2547T>C (p.Pro849=)
|
rs1242284062
|
|
NM_021098.3(CACNA1H):c.3852C>A (p.Arg1284=)
|
rs374262237
|
|
NM_022124.6(CDH23):c.4902C>T (p.Phe1634=)
|
rs565823145
|
|
NM_022464.5(SIL1):c.975G>A (p.Thr325=)
|
rs1187845475
|
|
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn)
|
rs369421697
|
|
NM_024009.3(GJB3):c.479G>A (p.Arg160His)
|
rs200055020
|
|
NM_024411.5(PDYN):c.459T>C (p.Asp153=)
|
rs1255371062
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)
|
rs138363524
|
|
NM_030962.4(SBF2):c.1930-10G>T
|
rs765561519
|
|
NM_031844.3(HNRNPU):c.1495-3T>C
|
rs758868739
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350
|
|
NM_170707.4(LMNA):c.1749G>A (p.Ser583=)
|
rs970494454
|
|
NM_173500.4(TTBK2):c.2175A>G (p.Gly725=)
|
rs759376111
|
|
NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr)
|
rs377620628
|
|
NM_178013.4(PRIMA1):c.99G>C (p.Thr33=)
|
rs4900195
|
|
NM_182914.3(SYNE2):c.12109-10_12109-7del
|
rs755277543
|
|
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del)
|
rs368230785
|
|
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)
|
rs182079744
|
|
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln)
|
rs202240664
|
|
NM_182914.3(SYNE2):c.6330G>A (p.Pro2110=)
|
rs779101206
|
|
NM_182961.3(SYNE1):c.23146-7dup
|
rs770820426
|
|
NM_182961.4(SYNE1):c.10545C>T (p.Leu3515=)
|
rs527448479
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
NM_182961.4(SYNE1):c.12573C>A (p.Thr4191=)
|
rs143851739
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
NM_182961.4(SYNE1):c.12607_12609delinsAAA (p.Glu4203Lys)
|
rs2096322019
|
|
NM_182961.4(SYNE1):c.13554C>G (p.Arg4518=)
|
rs115535983
|
|
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=)
|
rs146180064
|
|
NM_182961.4(SYNE1):c.14184G>A (p.Glu4728=)
|
rs1306912852
|
|
NM_182961.4(SYNE1):c.1596G>A (p.Arg532=)
|
rs771982103
|
|
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.18186G>C (p.Ser6062=)
|
rs1057523204
|
|
NM_182961.4(SYNE1):c.20028G>A (p.Arg6676=)
|
rs1449487984
|
|
NM_182961.4(SYNE1):c.23979-7G>A
|
rs376918337
|
|
NM_182961.4(SYNE1):c.24225A>T (p.Ala8075=)
|
rs910415
|
|
NM_182961.4(SYNE1):c.297C>T (p.Leu99=)
|
rs1355556442
|
|
NM_182961.4(SYNE1):c.4227G>A (p.Gly1409=)
|
rs2098471044
|
|
NM_182961.4(SYNE1):c.7593C>T (p.Ile2531=)
|
rs201679896
|
|
NM_182961.4(SYNE1):c.8214T>C (p.Tyr2738=)
|
rs561155086
|
|
NM_182961.4(SYNE1):c.8544G>A (p.Ala2848=)
|
rs776642978
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
NM_198859.4(PRICKLE2):c.330C>G (p.Arg110=)
|
rs751122249
|
|
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs)
|
rs2122409537
|
|
NM_201378.4(PLEC):c.71-11706C>T
|
rs781796596
|
|
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)
|
rs185022156
|
|
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met)
|
rs886044784
|
|
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)
|
rs200814155
|
|
NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu)
|
rs114515505
|
|
NM_203446.3(SYNJ1):c.3300C>T (p.Ala1100=)
|
rs2040034208
|
|