NM_173660.5(DOK7):c.-6C>G
|
rs191800156
|
0.01785
|
NM_130811.4(SNAP25):c.-9A>G
|
rs41306792
|
0.01318
|
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile)
|
rs34368668
|
0.01129
|
NM_004782.4(SNAP29):c.-5G>A
|
rs139884576
|
0.01122
|
NM_004782.4(SNAP29):c.-8C>G
|
rs186825747
|
0.01122
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu)
|
rs116807842
|
0.00956
|
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_198576.4(AGRN):c.1528G>A (p.Gly510Ser)
|
rs138288952
|
0.00834
|
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)
|
rs116644127
|
0.00802
|
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp)
|
rs147175064
|
0.00760
|
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_000540.3(RYR1):c.3326G>A (p.Arg1109Lys)
|
rs35719391
|
0.00619
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)
|
rs201050491
|
0.00575
|
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp)
|
rs61737716
|
0.00561
|
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_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro)
|
rs117070973
|
0.00528
|
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg)
|
rs146136277
|
0.00524
|
NM_000166.6(GJB1):c.-77G>A
|
rs190676487
|
0.00500
|
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)
|
rs139544500
|
0.00494
|
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_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr)
|
rs114471872
|
0.00448
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr)
|
rs62641756
|
0.00401
|
NM_018723.4(RBFOX1):c.-229C>G
|
rs144510926
|
0.00395
|
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His)
|
rs115510695
|
0.00383
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp)
|
rs142805337
|
0.00374
|
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)
|
rs76675748
|
0.00361
|
NM_201384.3(PLEC):c.8445T>C (p.Val2815=)
|
rs371421350
|
0.00329
|
NM_198576.4(AGRN):c.4285C>T (p.Arg1429Cys)
|
rs201346452
|
0.00327
|
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys)
|
rs34758634
|
0.00324
|
NM_000085.5(CLCNKB):c.1409-6T>C
|
rs115910575
|
0.00312
|
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)
|
rs190664764
|
0.00304
|
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_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=)
|
rs77789547
|
0.00300
|
NM_000085.5(CLCNKB):c.258G>A (p.Gly86=)
|
rs143339401
|
0.00298
|
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_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)
|
rs74463786
|
0.00290
|
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)
|
rs147131452
|
0.00268
|
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=)
|
rs112483670
|
0.00264
|
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_004004.6(GJB2):c.-45C>A
|
rs397516868
|
0.00245
|
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=)
|
rs370656151
|
0.00231
|
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)
|
rs116105846
|
0.00224
|
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_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=)
|
rs145210051
|
0.00218
|
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_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
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_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
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_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)
|
rs201006742
|
0.00202
|
NM_002303.6(LEPR):c.1604-16T>C
|
rs143936245
|
0.00202
|
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=)
|
rs149371169
|
0.00200
|
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
|
rs142458572
|
0.00188
|
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met)
|
rs145476116
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_018075.5(ANO10):c.1954A>G (p.Met652Val)
|
rs147989825
|
0.00180
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)
|
rs186881889
|
0.00175
|
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_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
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_001330078.2(NRXN1):c.2385C>G (p.Pro795=)
|
rs147984237
|
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_201525.4(ADGRG1):c.1287-28G>C
|
rs60624815
|
0.00163
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)
|
rs201574539
|
0.00155
|
NM_022464.5(SIL1):c.1030-14G>A
|
rs184154914
|
0.00148
|
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
|
rs145238250
|
0.00148
|
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_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)
|
rs201655861
|
0.00141
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
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_000352.6(ABCC8):c.822+20C>T
|
rs181998151
|
0.00136
|
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=)
|
rs199536020
|
0.00136
|
NM_000336.3(SCNN1B):c.181G>A (p.Ala61Thr)
|
rs72654321
|
0.00135
|
NM_201384.3(PLEC):c.174+10del
|
rs528031000
|
0.00134
|
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)
|
rs187011732
|
0.00132
|
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_020247.5(COQ8A):c.989A>G (p.Tyr330Cys)
|
rs150243147
|
0.00127
|
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)
|
rs150689014
|
0.00127
|
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_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)
|
rs149251662
|
0.00121
|
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_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)
|
rs150230201
|
0.00113
|
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)
|
rs61751149
|
0.00112
|
NM_182914.3(SYNE2):c.7643+6T>C
|
rs144143344
|
0.00111
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=)
|
rs149923357
|
0.00107
|
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=)
|
rs113315760
|
0.00106
|
NM_005045.4(RELN):c.5880A>G (p.Thr1960=)
|
rs362793
|
0.00105
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
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_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
NM_001256545.2(MEGF10):c.3026-8C>T
|
rs185480820
|
0.00098
|
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)
|
rs362800
|
0.00098
|
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)
|
rs199653503
|
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_001097577.3(ANG):c.122A>T (p.Lys41Ile)
|
rs121909536
|
0.00091
|
NM_004408.4(DNM1):c.1782-9A>G
|
rs201739236
|
0.00090
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_153766.3(KCNJ1):c.-21-2121G>A
|
rs147611594
|
0.00089
|
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_024577.4(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
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_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)
|
rs28937880
|
0.00079
|
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_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)
|
rs147632811
|
0.00075
|
NM_001379500.1(COL18A1):c.2158-9C>T
|
rs200143450
|
0.00074
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00073
|
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=)
|
rs138116334
|
0.00070
|
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_001009944.3(PKD1):c.3430G>A (p.Val1144Ile)
|
rs140991712
|
0.00065
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
NM_024740.2(ALG9):c.945T>C (p.Asn315=)
|
rs185555263
|
0.00062
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
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_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
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_002087.3(GRN):c.-45C>G
|
rs563336550
|
0.00057
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
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_201384.3(PLEC):c.11594G>A (p.Arg3865His)
|
rs200722246
|
0.00055
|
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_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
NM_005633.4(SOS1):c.2760G>A (p.Arg920=)
|
rs149092581
|
0.00051
|
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_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=)
|
rs141106709
|
0.00048
|
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)
|
rs193068692
|
0.00047
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
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_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)
|
rs139509075
|
0.00045
|
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_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_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)
|
rs149566146
|
0.00042
|
NM_017882.3(CLN6):c.822G>A (p.Ala274=)
|
rs151186473
|
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_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala)
|
rs147874855
|
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_000217.3(KCNA1):c.1125C>T (p.Tyr375=)
|
rs144351014
|
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_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
NM_182914.3(SYNE2):c.2936A>G (p.His979Arg)
|
rs546054742
|
0.00036
|
NM_001379500.1(COL18A1):c.3510G>A (p.Ala1170=)
|
rs374326288
|
0.00035
|
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.81302G>T (p.Gly27101Val)
|
rs201490050
|
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_001845.6(COL4A1):c.1735G>A (p.Val579Ile)
|
rs141527136
|
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_001178015.2(SLC4A10):c.2652T>C (p.His884=)
|
rs373234260
|
0.00030
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu)
|
rs75086141
|
0.00029
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
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_006946.4(SPTBN2):c.4418T>C (p.Leu1473Ser)
|
rs146137419
|
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_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_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
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_001267550.2(TTN):c.62511T>C (p.Ser20837=)
|
rs369467841
|
0.00027
|
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)
|
rs150093305
|
0.00026
|
NM_001961.4(EEF2):c.283G>A (p.Gly95Ser)
|
rs145985140
|
0.00026
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
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_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_017739.4(POMGNT1):c.1786-6C>T
|
rs202028128
|
0.00024
|
NM_198578.4(LRRK2):c.856C>G (p.Leu286Val)
|
rs200437744
|
0.00023
|
NM_000083.3(CLCN1):c.900G>A (p.Arg300=)
|
rs149578972
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
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_001080414.4(CCDC88C):c.6024T>C (p.Ser2008=)
|
rs372767405
|
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_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
NM_001379500.1(COL18A1):c.295C>T (p.Arg99Trp)
|
rs199918230
|
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_020822.3(KCNT1):c.2136C>T (p.Pro712=)
|
rs377516058
|
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_000156.6(GAMT):c.328-10C>T
|
rs371511930
|
0.00019
|
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln)
|
rs754817283
|
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_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.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_025137.4(SPG11):c.5796T>C (p.His1932=)
|
rs375350193
|
0.00019
|
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_006946.4(SPTBN2):c.4634C>T (p.Ala1545Val)
|
rs150801133
|
0.00018
|
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)
|
rs372517211
|
0.00018
|
NM_020247.5(COQ8A):c.385G>A (p.Gly129Arg)
|
rs372953250
|
0.00018
|
NM_000447.3(PSEN2):c.66G>A (p.Ser22=)
|
rs367645069
|
0.00017
|
NM_001009944.3(PKD1):c.7278T>C (p.Ser2426=)
|
rs2575311
|
0.00017
|
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)
|
rs533884784
|
0.00017
|
NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=)
|
rs201656750
|
0.00017
|
NM_001278064.2(GRM1):c.3426G>T (p.Ser1142=)
|
rs147521426
|
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_000209.4(PDX1):c.210G>T (p.Val70=)
|
rs748725637
|
0.00016
|
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)
|
rs145673861
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln)
|
rs761660130
|
0.00016
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
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_005045.4(RELN):c.2532G>A (p.Pro844=)
|
rs113842330
|
0.00016
|
NM_007262.5(PARK7):c.410-9A>G
|
rs143947415
|
0.00016
|
NM_013275.6(ANKRD11):c.6712A>G (p.Ser2238Gly)
|
rs770209899
|
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_021625.5(TRPV4):c.661G>A (p.Gly221Ser)
|
rs373539744
|
0.00016
|
NM_201384.3(PLEC):c.12064C>T (p.Leu4022Phe)
|
rs189061273
|
0.00016
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
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_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
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_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_000458.4(HNF1B):c.1046-12G>A
|
rs201751705
|
0.00014
|
NM_001127222.2(CACNA1A):c.5840-7C>T
|
rs372261381
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_005045.4(RELN):c.3411C>T (p.Gly1137=)
|
rs137974322
|
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.6786G>A (p.Thr2262=)
|
rs373922545
|
0.00014
|
NM_201384.3(PLEC):c.8727C>T (p.Thr2909=)
|
rs370129235
|
0.00014
|
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_006946.4(SPTBN2):c.4022G>A (p.Arg1341Gln)
|
rs149992317
|
0.00013
|
NM_018109.4(MTPAP):c.1011C>T (p.Ser337=)
|
rs139195646
|
0.00013
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
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_002292.4(LAMB2):c.1206G>A (p.Arg402=)
|
rs201999373
|
0.00012
|
NM_002547.3(OPHN1):c.12C>G (p.Pro4=)
|
rs139546241
|
0.00012
|
NM_014363.6(SACS):c.7641A>G (p.Lys2547=)
|
rs780021681
|
0.00012
|
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)
|
rs367680077
|
0.00012
|
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)
|
rs372019457
|
0.00011
|
NM_000435.3(NOTCH3):c.5124C>T (p.Ala1708=)
|
rs149766864
|
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.8136C>T (p.Ile2712=)
|
rs754894798
|
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_001961.4(EEF2):c.811G>A (p.Gly271Ser)
|
rs200480185
|
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_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
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_173500.4(TTBK2):c.1408T>C (p.Cys470Arg)
|
rs373500080
|
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.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_001110556.2(FLNA):c.6612C>T (p.Pro2204=)
|
rs375499070
|
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_001961.4(EEF2):c.627C>T (p.Leu209=)
|
rs145155508
|
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_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)
|
rs61745503
|
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.743C>T (p.Pro248Leu)
|
rs142013495
|
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_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
|
rs759982229
|
0.00009
|
NM_000435.3(NOTCH3):c.624C>T (p.Asn208=)
|
rs368179321
|
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_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=)
|
rs200209920
|
0.00009
|
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)
|
rs564353179
|
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_005881.4(BCKDK):c.1104C>T (p.Phe368=)
|
rs201614853
|
0.00009
|
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln)
|
rs199422214
|
0.00009
|
NM_018847.4(KLHL9):c.1394G>A (p.Cys465Tyr)
|
rs191333137
|
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_201384.3(PLEC):c.10728C>T (p.Gly3576=)
|
rs372840016
|
0.00009
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00009
|
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=)
|
rs370300688
|
0.00008
|
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=)
|
rs543436497
|
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_005529.7(HSPG2):c.201C>T (p.Asp67=)
|
rs144919523
|
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_000435.3(NOTCH3):c.4404C>T (p.Asn1468=)
|
rs145425679
|
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_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_182961.4(SYNE1):c.24348G>A (p.Ala8116=)
|
rs371204427
|
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_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.472G>A (p.Asp158Asn)
|
rs544773641
|
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_001267550.2(TTN):c.46430-8C>T
|
rs773395217
|
0.00006
|
NM_001267550.2(TTN):c.55059T>C (p.Asn18353=)
|
rs553295928
|
0.00006
|
NM_001378452.1(ITPR1):c.3565-4C>T
|
rs374122245
|
0.00006
|
NM_002087.4(GRN):c.1641C>T (p.Arg547=)
|
rs149658268
|
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_005477.3(HCN4):c.2652C>T (p.Pro884=)
|
rs373814254
|
0.00006
|
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=)
|
rs539490455
|
0.00006
|
NM_006946.4(SPTBN2):c.2944G>A (p.Glu982Lys)
|
rs777790247
|
0.00006
|
NM_006946.4(SPTBN2):c.4450C>T (p.Leu1484=)
|
rs139883853
|
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.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)
|
rs563145604
|
0.00006
|
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)
|
rs942559171
|
0.00006
|
NM_015915.5(ATL1):c.990+4T>A
|
rs372029461
|
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_033629.6(TREX1):c.219G>A (p.Pro73=)
|
rs778992418
|
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_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
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.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
NM_003482.4(KMT2D):c.1994C>T (p.Pro665Leu)
|
rs780891095
|
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.13026G>A (p.Thr4342=)
|
rs151237224
|
0.00005
|
NM_012210.4(TRIM32):c.693A>C (p.Ala231=)
|
rs368455215
|
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_175914.5(HNF4A):c.670+7C>T
|
rs376544046
|
0.00005
|
NM_201378.4(PLEC):c.71-12006C>T
|
rs782759589
|
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_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_000484.4(APP):c.917G>A (p.Arg306His)
|
rs202218688
|
0.00004
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00004
|
NM_001079802.2(FKTN):c.1248C>T (p.Leu416=)
|
rs774804160
|
0.00004
|
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=)
|
rs759320715
|
0.00004
|
NM_001127222.2(CACNA1A):c.784+9A>G
|
rs746215285
|
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.64959G>A (p.Ala21653=)
|
rs776272431
|
0.00004
|
NM_001278064.2(GRM1):c.1422C>T (p.Asp474=)
|
rs371221115
|
0.00004
|
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met)
|
rs755486931
|
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_002739.5(PRKCG):c.1529C>A (p.Thr510Lys)
|
rs749199519
|
0.00004
|
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)
|
rs367976914
|
0.00004
|
NM_005529.7(HSPG2):c.10143C>T (p.Leu3381=)
|
rs577292003
|
0.00004
|
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=)
|
rs773662857
|
0.00004
|
NM_006946.4(SPTBN2):c.5586C>T (p.Asp1862=)
|
rs138346945
|
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_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.3029G>A (p.Arg1010His)
|
rs370781594
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015346.4(ZFYVE26):c.6423G>A (p.Thr2141=)
|
rs142448052
|
0.00004
|
NM_025137.4(SPG11):c.36C>T (p.Ser12=)
|
rs368656047
|
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_198994.3(TGM6):c.1270A>C (p.Ile424Leu)
|
rs745804281
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=)
|
rs760793323
|
0.00003
|
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg)
|
rs200547556
|
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_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_001127222.2(CACNA1A):c.549G>A (p.Ala183=)
|
rs16004
|
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_001136472.2(LITAF):c.240C>T (p.Tyr80=)
|
rs149184234
|
0.00003
|
NM_001267550.2(TTN):c.27186T>G (p.Gly9062=)
|
rs745874179
|
0.00003
|
NM_001845.6(COL4A1):c.3285C>T (p.Ser1095=)
|
rs267603751
|
0.00003
|
NM_002693.3(POLG):c.1596C>T (p.Pro532=)
|
rs199856571
|
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_005881.4(BCKDK):c.654C>T (p.Val218=)
|
rs368040635
|
0.00003
|
NM_006946.4(SPTBN2):c.1524C>T (p.Asn508=)
|
rs774837229
|
0.00003
|
NM_007254.4(PNKP):c.789G>A (p.Thr263=)
|
rs768661843
|
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.5781+9T>C
|
rs772671321
|
0.00003
|
NM_018075.5(ANO10):c.1401G>T (p.Val467=)
|
rs149580265
|
0.00003
|
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
|
rs147797471
|
0.00003
|
NM_170665.4(ATP2A2):c.2577C>T (p.Asp859=)
|
rs139307921
|
0.00003
|
NM_175914.5(HNF4A):c.1064-18G>A
|
rs773235761
|
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_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)
|
rs771168722
|
0.00003
|
NM_198994.3(TGM6):c.1527C>T (p.His509=)
|
rs748042241
|
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_000435.3(NOTCH3):c.6411G>A (p.Leu2137=)
|
rs770123435
|
0.00002
|
NM_000726.5(CACNB4):c.681G>A (p.Pro227=)
|
rs1405201747
|
0.00002
|
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser)
|
rs371190262
|
0.00002
|
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met)
|
rs552292318
|
0.00002
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
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.44157T>C (p.Asp14719=)
|
rs760908766
|
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_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_003119.4(SPG7):c.1599G>A (p.Ala533=)
|
rs561746823
|
0.00002
|
NM_004172.5(SLC1A3):c.1069A>G (p.Ile357Val)
|
rs532925070
|
0.00002
|
NM_004977.3(KCNC3):c.1065C>T (p.Cys355=)
|
rs761297836
|
0.00002
|
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala)
|
rs200759046
|
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.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_020919.4(ALS2):c.468G>A (p.Ala156=)
|
rs145506395
|
0.00002
|
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=)
|
rs758663546
|
0.00002
|
NM_170707.4(LMNA):c.1071C>T (p.Asp357=)
|
rs376875762
|
0.00002
|
NM_173500.4(TTBK2):c.452G>A (p.Arg151His)
|
rs375070421
|
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.6546G>A (p.Ala2182=)
|
rs372009035
|
0.00002
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
NM_000268.4(NF2):c.543G>A (p.Pro181=)
|
rs139838280
|
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_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.4974C>T (p.Leu1658=)
|
rs749616364
|
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_001009944.3(PKD1):c.10773C>T (p.Ser3591=)
|
rs1168845943
|
0.00001
|
NM_001009944.3(PKD1):c.3390T>G (p.Ala1130=)
|
rs769998736
|
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.6573C>T (p.Arg2191=)
|
rs949370419
|
0.00001
|
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn)
|
rs778565182
|
0.00001
|
NM_001126108.2(SLC12A3):c.2910T>A (p.Ala970=)
|
rs755684695
|
0.00001
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
NM_001164508.2(NEB):c.9723+7G>A
|
rs557480322
|
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.33594C>T (p.Pro11198=)
|
rs1553829479
|
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_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.6603G>A (p.Thr2201=)
|
rs149339933
|
0.00001
|
NM_001540.5(HSPB1):c.117G>A (p.Pro39=)
|
rs752555764
|
0.00001
|
NM_001961.4(EEF2):c.1725G>A (p.Pro575=)
|
rs566897549
|
0.00001
|
NM_003482.4(KMT2D):c.4167G>A (p.Gly1389=)
|
rs1237635545
|
0.00001
|
NM_004519.4(KCNQ3):c.2562G>A (p.Ser854=)
|
rs201736771
|
0.00001
|
NM_004977.3(KCNC3):c.2139T>C (p.Tyr713=)
|
rs772962111
|
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_005591.4(MRE11):c.411A>G (p.Ala137=)
|
rs776033471
|
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_012431.3(SEMA3E):c.2034C>T (p.Val678=)
|
rs146635766
|
0.00001
|
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)
|
rs369654108
|
0.00001
|
NM_014363.6(SACS):c.12585A>G (p.Gly4195=)
|
rs200305087
|
0.00001
|
NM_014363.6(SACS):c.7833G>A (p.Thr2611=)
|
rs1237743096
|
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_017739.4(POMGNT1):c.1005T>A (p.Val335=)
|
rs749046557
|
0.00001
|
NM_018109.4(MTPAP):c.1260A>G (p.Thr420=)
|
rs1390957889
|
0.00001
|
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=)
|
rs765432746
|
0.00001
|
NM_021008.4(DEAF1):c.720T>C (p.Phe240=)
|
rs1271364831
|
0.00001
|
NM_022464.5(SIL1):c.795C>T (p.Ile265=)
|
rs746589509
|
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_173500.4(TTBK2):c.1051C>A (p.Gln351Lys)
|
rs908445283
|
0.00001
|
NM_173500.4(TTBK2):c.3357T>G (p.Ser1119=)
|
rs745306977
|
0.00001
|
NM_181882.3(PRX):c.3351C>T (p.Ala1117=)
|
rs535934188
|
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.18214T>C (p.Leu6072=)
|
rs747009172
|
0.00001
|
NM_182961.4(SYNE1):c.18327G>A (p.Ala6109=)
|
rs148518750
|
0.00001
|
NM_182961.4(SYNE1):c.9915A>G (p.Ser3305=)
|
rs764114386
|
0.00001
|
NM_201384.3(PLEC):c.7161G>A (p.Leu2387=)
|
rs781982762
|
0.00001
|
NC_012920.1(MT-ND1):m.3669A>G
|
rs386828918
|
|
NM_000051.4(ATM):c.4731T>A (p.Thr1577=)
|
rs145236132
|
|
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=)
|
rs763965450
|
|
NM_000091.5(COL4A3):c.261G>A (p.Thr87=)
|
rs369517619
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000209.4(PDX1):c.312C>T (p.Ala104=)
|
rs535722487
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000297.4(PKD2):c.468G>T (p.Arg156=)
|
rs2110080600
|
|
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=)
|
rs749942058
|
|
NM_000344.4(SMN1):c.651A>G (p.Pro217=)
|
rs2112811770
|
|
NM_000383.4(AIRE):c.799-17G>A
|
rs72650675
|
|
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
|
rs35065563
|
|
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.3504A>T (p.Pro1168=)
|
rs1218422734
|
|
NM_000451.4(SHOX):c.-9del
|
rs778186580
|
|
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del)
|
rs776789883
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=)
|
rs1555441528
|
|
NM_000834.5(GRIN2B):c.813G>A (p.Ala271=)
|
rs201732785
|
|
NM_001009944.3(PKD1):c.11643C>T (p.Ala3881=)
|
rs1555445526
|
|
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=)
|
rs375443308
|
|
NM_001122955.4(BSCL2):c.486+8T>G
|
rs1238731769
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2])
|
rs764399373
|
|
NM_001135022.2(ELMOD3):c.828G>A (p.Arg276=)
|
rs2104756441
|
|
NM_001164508.2(NEB):c.24177A>G (p.Arg8059=)
|
rs1030563077
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
NM_001267550.2(TTN):c.20619A>G (p.Leu6873=)
|
rs2079201822
|
|
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.39833AGA[1] (p.Lys13279del)
|
rs765355244
|
|
NM_001267550.2(TTN):c.44475A>T (p.Val14825=)
|
rs1576607946
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378969.1(KCND3):c.228C>T (p.Asn76=)
|
rs758608445
|
|
NM_001378969.1(KCND3):c.492C>T (p.Ser164=)
|
rs1170371506
|
|
NM_001961.4(EEF2):c.1714-6T>C
|
rs2039700420
|
|
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.3482+6C>T
|
rs55779802
|
|
NM_004070.4(CLCNKA):c.1500C>T (p.Pro500=)
|
rs143389794
|
|
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_005529.7(HSPG2):c.13011C>T (p.Ala4337=)
|
rs1263243391
|
|
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg)
|
rs572648977
|
|
NM_006796.3(AFG3L2):c.215-11_215-6del
|
rs533823759
|
|
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_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
NM_014625.4(NPHS2):c.451+9dup
|
rs542240453
|
|
NM_014855.3(AP5Z1):c.2112G>A (p.Thr704=)
|
rs765844025
|
|
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.7749C>T (p.Asp2583=)
|
rs754701648
|
|
NM_015340.4(LARS2):c.1626T>C (p.Pro542=)
|
rs1352189510
|
|
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.621C>T (p.Asp207=)
|
rs746662161
|
|
NM_020247.5(COQ8A):c.1800C>G (p.Val600=)
|
rs74589348
|
|
NM_021098.3(CACNA1H):c.1662C>G (p.Gly554=)
|
rs755913742
|
|
NM_022124.6(CDH23):c.4902C>T (p.Phe1634=)
|
rs565823145
|
|
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn)
|
rs369421697
|
|
NM_024411.5(PDYN):c.459T>C (p.Asp153=)
|
rs1255371062
|
|
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_170707.4(LMNA):c.1749G>A (p.Ser583=)
|
rs970494454
|
|
NM_182914.3(SYNE2):c.12109-10_12109-7del
|
rs755277543
|
|
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln)
|
rs202240664
|
|
NM_182961.3(SYNE1):c.23146-7dup
|
rs770820426
|
|
NM_182961.4(SYNE1):c.10545C>T (p.Leu3515=)
|
rs527448479
|
|
NM_182961.4(SYNE1):c.1596G>A (p.Arg532=)
|
rs771982103
|
|
NM_182961.4(SYNE1):c.23979-7G>A
|
rs376918337
|
|
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.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)
|
rs185022156
|
|