ClinVar Miner

List of variants reported as likely benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2107
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HGVS dbSNP gnomAD frequency
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

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