NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_006059.4(LAMC3):c.-2C>T
|
rs137883250
|
0.01424
|
UGT1A1*6
|
rs4148323
|
0.00891
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_000231.3(SGCG):c.-6T>C
|
rs141771521
|
0.00749
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser)
|
rs116690692
|
0.00511
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)
|
rs115958467
|
0.00486
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
|
rs45608240
|
0.00391
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr)
|
rs61755050
|
0.00371
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00349
|
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
|
rs5743277
|
0.00340
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)
|
rs142672241
|
0.00331
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00320
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)
|
rs2857824
|
0.00301
|
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys)
|
rs114610092
|
0.00300
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)
|
rs142708991
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly)
|
rs10029227
|
0.00285
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile)
|
rs61751497
|
0.00284
|
NM_018136.5(ASPM):c.3599-4A>G
|
rs149303254
|
0.00284
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe)
|
rs142597675
|
0.00266
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)
|
rs75857070
|
0.00263
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)
|
rs142335339
|
0.00261
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)
|
rs111262341
|
0.00259
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile)
|
rs139798654
|
0.00257
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)
|
rs17003166
|
0.00252
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_198239.2(CCN6):c.310G>C (p.Val104Leu)
|
rs78266262
|
0.00251
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu)
|
rs138220431
|
0.00247
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)
|
rs34096980
|
0.00245
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_000240.4(MAOA):c.825G>A (p.Pro275=)
|
rs138703731
|
0.00238
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)
|
rs200342335
|
0.00236
|
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)
|
rs41301481
|
0.00236
|
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)
|
rs35234349
|
0.00236
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00231
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)
|
rs144177566
|
0.00229
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00229
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
|
rs113870881
|
0.00220
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_001083961.2(WDR62):c.4312-5T>G
|
rs182467995
|
0.00215
|
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)
|
rs181295720
|
0.00215
|
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)
|
rs143388379
|
0.00212
|
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
|
rs142021049
|
0.00211
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)
|
rs149347601
|
0.00206
|
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)
|
rs76881473
|
0.00206
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)
|
rs148372053
|
0.00204
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)
|
rs75426387
|
0.00194
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)
|
rs140768346
|
0.00193
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)
|
rs28544073
|
0.00184
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_012210.4(TRIM32):c.558G>C (p.Gln186His)
|
rs117599771
|
0.00183
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)
|
rs142648687
|
0.00179
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=)
|
rs150642468
|
0.00177
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)
|
rs150046979
|
0.00175
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)
|
rs59190330
|
0.00174
|
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)
|
rs149709084
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)
|
rs45592239
|
0.00170
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val)
|
rs143072070
|
0.00159
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
|
rs45596335
|
0.00155
|
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)
|
rs61760167
|
0.00154
|
NM_005045.4(RELN):c.77C>T (p.Ala26Val)
|
rs144557847
|
0.00154
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)
|
rs144747353
|
0.00153
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)
|
rs145709687
|
0.00152
|
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)
|
rs185594460
|
0.00151
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)
|
rs148453565
|
0.00151
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe)
|
rs4987238
|
0.00148
|
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)
|
rs117440569
|
0.00148
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr)
|
rs149629209
|
0.00148
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
NM_004817.4(TJP2):c.61-6A>T
|
rs200415824
|
0.00145
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)
|
rs144701688
|
0.00145
|
NM_012301.4(MAGI2):c.219C>T (p.Pro73=)
|
rs148240352
|
0.00143
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)
|
rs72542427
|
0.00142
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)
|
rs149316006
|
0.00140
|
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00140
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=)
|
rs148667984
|
0.00138
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr)
|
rs139749569
|
0.00137
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)
|
rs147529965
|
0.00135
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)
|
rs201310509
|
0.00128
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00128
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00128
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468
|
0.00123
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_021120.4(DLG3):c.429C>T (p.Phe143=)
|
rs144225009
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00120
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)
|
rs117204561
|
0.00116
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)
|
rs149121639
|
0.00114
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)
|
rs148183839
|
0.00112
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)
|
rs35759430
|
0.00108
|
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=)
|
rs374211586
|
0.00108
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His)
|
rs34963077
|
0.00106
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)
|
rs201967064
|
0.00101
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)
|
rs149894086
|
0.00092
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)
|
rs140368756
|
0.00090
|
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)
|
rs115924432
|
0.00089
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)
|
rs116321057
|
0.00085
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)
|
rs149153003
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00081
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)
|
rs144937332
|
0.00081
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)
|
rs151086692
|
0.00081
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00077
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00076
|
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr)
|
rs200173947
|
0.00074
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_005422.4(TECTA):c.2604G>T (p.Thr868=)
|
rs139509847
|
0.00073
|
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)
|
rs201667254
|
0.00072
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)
|
rs147314430
|
0.00071
|
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)
|
rs200266424
|
0.00068
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00058
|
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)
|
rs61749682
|
0.00057
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)
|
rs143895253
|
0.00055
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln)
|
rs140735182
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
NM_000381.4(MID1):c.1489C>T (p.Leu497=)
|
rs138629923
|
0.00051
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala)
|
rs143277114
|
0.00051
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)
|
rs200451158
|
0.00046
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys)
|
rs200541837
|
0.00041
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_003282.4(TNNI2):c.54G>C (p.Leu18=)
|
rs181679318
|
0.00036
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His)
|
rs145766839
|
0.00032
|
NM_198525.3(KIF7):c.516G>A (p.Glu172=)
|
rs199959946
|
0.00032
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
|
rs397516423
|
0.00030
|
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994
|
0.00030
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp)
|
rs149565907
|
0.00026
|
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)
|
rs141605607
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val)
|
rs72647901
|
0.00025
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)
|
rs200949691
|
0.00024
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg)
|
rs138675304
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_000337.6(SGCD):c.699+18C>G
|
rs180898690
|
0.00019
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)
|
rs371300262
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
NM_004187.5(KDM5C):c.536G>A (p.Arg179His)
|
rs201805773
|
0.00019
|
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)
|
rs117134265
|
0.00019
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
NM_133378.4(TTN):c.19928-7C>T
|
rs771244164
|
0.00019
|
NM_182961.4(SYNE1):c.24642+3A>G
|
rs117346210
|
0.00019
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)
|
rs201326295
|
0.00017
|
NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys)
|
rs368475300
|
0.00016
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866
|
0.00015
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=)
|
rs201794205
|
0.00014
|
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)
|
rs181341030
|
0.00014
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)
|
rs140425651
|
0.00013
|
NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val)
|
rs144659773
|
0.00013
|
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)
|
rs199911951
|
0.00013
|
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00013
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)
|
rs77853132
|
0.00011
|
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)
|
rs146546544
|
0.00010
|
NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)
|
rs373070679
|
0.00010
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
0.00009
|
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)
|
rs144639994
|
0.00009
|
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile)
|
rs112633352
|
0.00009
|
NM_022356.4(P3H1):c.327C>T (p.Phe109=)
|
rs370773974
|
0.00009
|
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala)
|
rs751529827
|
0.00008
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)
|
rs200276242
|
0.00007
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)
|
rs200406978
|
0.00006
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00006
|
NM_003193.5(TBCE):c.898+5A>T
|
rs182294717
|
0.00006
|
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys)
|
rs144350008
|
0.00006
|
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)
|
rs200163818
|
0.00005
|
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met)
|
rs767072861
|
0.00005
|
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile)
|
rs142646842
|
0.00004
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys)
|
rs748248022
|
0.00003
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys)
|
rs765033647
|
0.00002
|
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val)
|
rs886044534
|
0.00002
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
NM_002968.3(SALL1):c.2825C>A (p.Pro942His)
|
rs751069468
|
0.00001
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del)
|
rs397508194
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_000686.5(AGTR2):c.402del (p.Phe134fs)
|
rs387906503
|
|
NM_001031679.3(MSRB3):c.-118del
|
rs574256598
|
|
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])
|
rs782547972
|
|
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=)
|
rs2301734
|
|
NM_001101426.4(CRPPA):c.360C>T (p.Val120=)
|
rs183141256
|
|
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)
|
rs398123566
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)
|
rs1057518615
|
|
NM_001128228.3(TPRN):c.1845AGAGGA[3] (p.Glu620_Glu621dup)
|
rs750560040
|
|
NM_001142301.1(TMEM67):c.2522-6del
|
rs747342409
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)
|
rs532224704
|
|
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn)
|
rs145877051
|
|
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln)
|
rs147844226
|
|
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)
|
rs10594016
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del)
|
rs59355923
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup)
|
rs59355923
|
|
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)
|
rs189286381
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val)
|
rs199557987
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)
|
rs386789728
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)
|
rs139875974
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)
|
rs142709940
|
|
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)
|
rs72555376
|
|
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)
|
rs769735492
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala)
|
rs749792302
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg)
|
rs113247976
|
|
NM_004985.5(KRAS):c.291-10del
|
rs727503991
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
NM_005634.3(SOX3):c.732delinsCGCC (p.Ala248dup)
|
rs794726924
|
|
NM_006005.3(WFS1):c.114C>T (p.Ser38=)
|
rs531593902
|
|
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile)
|
rs113342730
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=)
|
rs535454043
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
NM_015884.4(MBTPS2):c.348CTCTTCTTCCTCTTCCTC[1] (p.Ser131_Ser136del)
|
rs762761040
|
|
NM_018451.5(CENPJ):c.2992-17dup
|
rs35599563
|
|
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup)
|
rs747975797
|
|
NM_022039.4(FBXW4):c.485AGG[8] (p.Glu168dup)
|
rs560966094
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup)
|
rs570476408
|
|
Single allele
|
|
|