NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_016233.2(PADI3):c.335T>A (p.Leu112His)
|
rs142129409
|
0.00502
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
NM_183065.4(TMEM107):c.*759C>T
|
rs201787275
|
0.00162
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_000505.4(F12):c.1681-1G>A
|
rs199988476
|
0.00036
|
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs)
|
rs764928653
|
0.00036
|
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del)
|
rs759270179
|
0.00036
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu)
|
rs148832260
|
0.00032
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)
|
rs150613320
|
0.00028
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00017
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)
|
rs121434287
|
0.00014
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_004260.4(RECQL4):c.2464-1G>C
|
rs398124117
|
0.00012
|
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)
|
rs141601766
|
0.00012
|
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)
|
rs140649226
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_001184.4(ATR):c.6897+464C>G
|
rs587777852
|
0.00010
|
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter)
|
rs1407028917
|
0.00010
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
NM_001297.5(CNGB1):c.2794+1G>A
|
rs770011113
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)
|
rs368728266
|
0.00009
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00008
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)
|
rs142375551
|
0.00008
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg)
|
rs371172166
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)
|
rs756840095
|
0.00006
|
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)
|
rs143934667
|
0.00006
|
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)
|
rs372246702
|
0.00006
|
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter)
|
rs564628353
|
0.00006
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00006
|
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)
|
rs200151282
|
0.00006
|
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
0.00006
|
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)
|
rs369437593
|
0.00006
|
NM_183065.4(TMEM107):c.*686A>G
|
rs201558321
|
0.00006
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001395891.1(CLASP1):c.196-602C>T
|
rs863225422
|
0.00005
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_012208.4(HARS2):c.125T>G (p.Leu42Ter)
|
rs146046742
|
0.00005
|
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)
|
rs765088174
|
0.00005
|
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)
|
rs142083484
|
0.00005
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00004
|
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)
|
rs760768552
|
0.00004
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter)
|
rs147179561
|
0.00004
|
NM_003235.5(TG):c.475C>T (p.Arg159Ter)
|
rs759267330
|
0.00004
|
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys)
|
rs200581623
|
0.00004
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
0.00004
|
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro)
|
rs121918421
|
0.00004
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
|
rs267606764
|
0.00004
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000111.3(SLC26A3):c.571-2A>G
|
rs386833486
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00003
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)
|
rs121918017
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
|
rs530874854
|
0.00003
|
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)
|
rs768620276
|
0.00003
|
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
0.00003
|
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)
|
rs377656387
|
0.00003
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
NM_005422.4(TECTA):c.6162+1G>A
|
rs1045921265
|
0.00003
|
NM_005912.3(MC4R):c.750_751del (p.Ile251fs)
|
rs13447339
|
0.00003
|
NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter)
|
rs137929776
|
0.00003
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His)
|
rs199476203
|
0.00003
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
0.00002
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter)
|
rs541008862
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)
|
rs754449549
|
0.00002
|
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)
|
rs750247691
|
0.00002
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter)
|
rs527536011
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_004614.5(TK2):c.441del (p.Tyr148fs)
|
rs768548319
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
NM_018417.6(ADCY10):c.1263C>A (p.Tyr421Ter)
|
rs770888477
|
0.00002
|
NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter)
|
rs752054405
|
0.00002
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp)
|
rs104894676
|
0.00002
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln)
|
rs368529673
|
0.00001
|
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter)
|
rs1302552127
|
0.00001
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912
|
0.00001
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00001
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)
|
rs769408559
|
0.00001
|
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)
|
rs80338792
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
|
rs121908209
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)
|
rs1438626607
|
0.00001
|
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)
|
rs141677867
|
0.00001
|
NM_000478.6(ALPL):c.299C>T (p.Thr100Met)
|
rs1201942473
|
0.00001
|
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)
|
rs200750564
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_001004334.4(GPR179):c.1573C>T (p.Arg525Ter)
|
rs773022324
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001018115.3(FANCD2):c.1948-6C>A
|
rs779350241
|
0.00001
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001083614.2(EARS2):c.320G>A (p.Arg107His)
|
rs1021330566
|
0.00001
|
NM_001113378.2(FANCI):c.3949C>T (p.Gln1317Ter)
|
rs758856471
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter)
|
rs1182277140
|
0.00001
|
NM_001127453.2(GSDME):c.1183+1G>A
|
rs1554322596
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)
|
rs372526764
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)
|
rs1057522256
|
0.00001
|
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)
|
rs766840243
|
0.00001
|
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)
|
rs1553539391
|
0.00001
|
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter)
|
rs901811301
|
0.00001
|
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter)
|
rs531536885
|
0.00001
|
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter)
|
rs764896693
|
0.00001
|
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter)
|
rs773948197
|
0.00001
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001943.5(DSG2):c.3G>A (p.Met1Ile)
|
rs1021457619
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_002087.4(GRN):c.708+1G>A
|
rs63749817
|
0.00001
|
NM_002693.3(POLG):c.926G>A (p.Arg309His)
|
rs780953863
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)
|
rs761533681
|
0.00001
|
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)
|
rs864622094
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)
|
rs545593935
|
0.00001
|
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)
|
rs113994053
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys)
|
rs1555471394
|
0.00001
|
NM_004562.3(PRKN):c.1A>G (p.Met1Val)
|
rs772786691
|
0.00001
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp)
|
rs775437084
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)
|
rs121913561
|
0.00001
|
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)
|
rs771409809
|
0.00001
|
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)
|
rs753161833
|
0.00001
|
NM_006618.5(KDM5B):c.1321C>T (p.Arg441Ter)
|
rs527951173
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter)
|
rs1924657431
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)
|
rs151344523
|
0.00001
|
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter)
|
rs750874617
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014804.3(KIAA0753):c.661C>T (p.Arg221Ter)
|
rs774799042
|
0.00001
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)
|
rs387906885
|
0.00001
|
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
|
rs199867882
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser)
|
rs767619131
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser)
|
rs375343753
|
0.00001
|
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)
|
rs267607017
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter)
|
rs762035813
|
0.00001
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000037.4(ANK1):c.1801-17G>A
|
rs786205243
|
|
NM_000043.6(FAS):c.749G>A (p.Arg250Gln)
|
rs121913080
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)
|
rs766351395
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000062.3(SERPING1):c.1249G>T (p.Glu417Ter)
|
rs755108467
|
|
NM_000065.5(C6):c.2335_2336del (p.Gln779fs)
|
rs771792933
|
|
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr)
|
rs1287079817
|
|
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)
|
rs104894099
|
|
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)
|
rs794728040
|
|
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)
|
rs770925947
|
|
NM_000124.4(ERCC6):c.207dup (p.Pro70fs)
|
rs1554794641
|
|
NM_000124.4(ERCC6):c.544-1G>A
|
rs901360414
|
|
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)
|
rs1363815113
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe)
|
rs1603431508
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000166.6(GJB1):c.265C>G (p.Leu89Val)
|
rs1602349029
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
NM_000210.4(ITGA6):c.442C>T (p.Arg148Ter)
|
rs754621187
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000250.2(MPO):c.1555_1568del (p.Met519fs)
|
rs536522394
|
|
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)
|
rs727503260
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)
|
rs2092930339
|
|
NM_000264.5(PTCH1):c.114del (p.Leu39fs)
|
rs751977093
|
|
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)
|
rs28936697
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1549-1G>A
|
rs1720121027
|
|
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)
|
rs61755797
|
|
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)
|
rs61755801
|
|
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)
|
rs1554268521
|
|
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)
|
rs28931585
|
|
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met)
|
rs2047337144
|
|
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)
|
rs63749083
|
|
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly)
|
rs1553192682
|
|
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg)
|
rs776910485
|
|
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser)
|
rs1660701838
|
|
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)
|
rs61752411
|
|
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)
|
rs1801269
|
|
NM_000350.3(ABCA4):c.4926C>A (p.Ser1642Arg)
|
rs61753017
|
|
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)
|
rs62642576
|
|
NM_000350.3(ABCA4):c.5753A>T (p.Asp1918Val)
|
rs1659470705
|
|
NM_000369.5(TSHR):c.1835del (p.Gln612fs)
|
rs1595179250
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)
|
rs104894318
|
|
NM_000372.5(TYR):c.307T>C (p.Cys103Arg)
|
rs1482829698
|
|
NM_000377.3(WAS):c.360+1G>T
|
rs1057520700
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000400.4(ERCC2):c.1707del (p.Ile569fs)
|
rs767672172
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys)
|
rs764148985
|
|
NM_000440.3(PDE6A):c.1065+2T>A
|
rs1554090012
|
|
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)
|
rs773065850
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000454.5(SOD1):c.115C>G (p.Leu39Val)
|
rs121912432
|
|
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)
|
rs1384701659
|
|
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)
|
rs769020799
|
|
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg)
|
rs1644687066
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln)
|
rs1555891584
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)
|
rs1553259697
|
|
NM_000531.6(OTC):c.659C>T (p.Pro220Leu)
|
rs72558426
|
|
NM_000540.3(RYR1):c.14364+1G>A
|
rs1974046221
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs)
|
rs1281875506
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter)
|
rs764122274
|
|
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter)
|
rs74315386
|
|
NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg)
|
rs2101052251
|
|
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter)
|
rs1555112396
|
|
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys)
|
rs1085307547
|
|
NM_000836.4(GRIN2D):c.2041A>G (p.Met681Val)
|
rs1555893359
|
|
NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del)
|
rs1554414710
|
|
NM_000937.5(POLR2A):c.1462G>A (p.Val488Met)
|
rs2070561031
|
|
NM_000965.5(RARB):c.844G>A (p.Gly282Ser)
|
rs1553637463
|
|
NM_001008537.3(NEXMIF):c.694C>T (p.Gln232Ter)
|
rs2080116822
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
|
|
|
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp)
|
rs1203066173
|
|
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs)
|
rs1569523457
|
|
NM_001034853.2(RPGR):c.2346del (p.Lys783fs)
|
rs1064797365
|
|
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs)
|
rs1555961509
|
|
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)
|
rs1553578503
|
|
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)
|
rs796053162
|
|
NM_001042492.3(NF1):c.1642-449A>G
|
rs863224655
|
|
NM_001042492.3(NF1):c.6704+1del
|
rs1597844692
|
|
NM_001042750.2(STAG2):c.1196+4_1196+7del
|
|
|
NM_001048174.2(MUTYH):c.420+19_420+31del
|
rs781222233
|
|
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu)
|
rs1057519223
|
|
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter)
|
rs1553635637
|
|
NM_001083962.2(TCF4):c.990G>A (p.Ser330=)
|
rs587784469
|
|
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)
|
rs1576387876
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001101426.4(CRPPA):c.184del (p.Val62fs)
|
rs1048457038
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln)
|
rs886041767
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001122769.3(LCA5):c.574dup (p.Thr192fs)
|
rs1057519136
|
|
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter)
|
rs1600271575
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala)
|
rs189199636
|
|
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
|
rs1057519132
|
|
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr)
|
rs1555488144
|
|
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)
|
rs1554163919
|
|
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs)
|
rs1555443581
|
|
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)
|
rs1588354762
|
|
NM_001161.5(NUDT2):c.186del (p.Ala63fs)
|
rs529087882
|
|
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile)
|
rs796053089
|
|
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)
|
rs1559101839
|
|
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter)
|
rs1057524677
|
|
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter)
|
rs774906516
|
|
NM_001172509.2(SATB2):c.1946C>T (p.Ser649Leu)
|
rs746319722
|
|
NM_001184.4(ATR):c.2831del (p.Ser944fs)
|
|
|
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro)
|
rs1553335247
|
|
NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys)
|
rs1588253471
|
|
NM_001195553.2(DCX):c.305G>A (p.Arg102His)
|
rs267606317
|
|
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter)
|
rs1555034779
|
|
NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter)
|
rs1553354522
|
|
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter)
|
rs4672457
|
|
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)
|
rs748847284
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)
|
rs1057519107
|
|
NM_001242957.3(MAK):c.1366_1367del (p.Lys456fs)
|
rs935003657
|
|
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)
|
rs548204329
|
|
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)
|
rs1064794935
|
|
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)
|
rs672601368
|
|
NM_001256789.3(CACNA1F):c.3236+1G>A
|
rs1064797371
|
|
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)
|
rs1557110499
|
|
NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)
|
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)
|
rs1553649171
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)
|
rs2053619460
|
|
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter)
|
rs398122998
|
|
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln)
|
rs886039918
|
|
NM_001273.5(CHD4):c.3530G>A (p.Arg1177His)
|
rs2136209181
|
|
NM_001278116.2(L1CAM):c.400+5G>A
|
rs1569544908
|
|
NM_001282534.2(KCNK9):c.391C>T (p.Arg131Cys)
|
rs1814690517
|
|
NM_001320.7(CSNK2B):c.1A>G (p.Met1Val)
|
rs1801755635
|
|
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His)
|
rs796052235
|
|
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)
|
rs1569238002
|
|
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)
|
rs746200792
|
|
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)
|
rs1602292076
|
|
NM_001370100.5(ZMYND11):c.1388_1389del (p.Cys463fs)
|
rs1952647904
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter)
|
rs2083361357
|
|
NM_001374828.1(ARID1B):c.2581+5G>A
|
rs1554298239
|
|
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His)
|
rs2152591288
|
|
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)
|
rs1553518509
|
|
NM_001379180.1(ESRRB):c.923dup (p.Ile309fs)
|
|
|
NM_001394132.1(HRURF):c.2T>A (p.Met1Lys)
|
rs387906382
|
|
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)
|
rs886039347
|
|
NM_001414.4(EIF2B1):c.588_589del (p.Gly196_Ala197insTer)
|
rs768945314
|
|
NM_001492.6(GDF1):c.909dup (p.Val304fs)
|
rs606231383
|
|
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter)
|
rs373792616
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)
|
rs398122973
|
|
NM_001844.5(COL2A1):c.519del (p.Gly174fs)
|
rs1592235124
|
|
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)
|
rs797044867
|
|
NM_001848.3(COL6A1):c.904-2A>G
|
rs1057519174
|
|
NM_001849.4(COL6A2):c.855+1G>C
|
rs1057517988
|
|
NM_001853.4(COL9A3):c.1739dup (p.Gly581fs)
|
rs764718355
|
|
NM_001953.5(TYMP):c.274del (p.Thr92fs)
|
rs2069502314
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter)
|
rs146686141
|
|
NM_002317.7(LOX):c.545del (p.Pro182fs)
|
rs1372924173
|
|
NM_002437.5(MPV17):c.185del (p.Val62fs)
|
rs755624411
|
|
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer)
|
rs1580553607
|
|
NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter)
|
rs578113271
|
|
NM_002439.5(MSH3):c.2227_2228del (p.Gln743fs)
|
rs1371600437
|
|
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)
|
rs1184544985
|
|
NM_002900.3(RBP3):c.1227del (p.Val411fs)
|
|
|
NM_003011.4(SET):c.130_133del (p.Arg44fs)
|
rs1554776342
|
|
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp)
|
rs1553687863
|
|
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys)
|
rs886039520
|
|
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln)
|
rs2037146907
|
|
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)
|
rs267607085
|
|
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)
|
rs727504421
|
|
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs)
|
rs398123716
|
|
NM_003560.4(PLA2G6):c.1186+1G>A
|
rs761815070
|
|
NM_003722.5(TP63):c.1007G>A (p.Gly336Asp)
|
rs2108806204
|
|
NM_003919.3(SGCE):c.549_552del (p.Phe183fs)
|
rs1554352952
|
|
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)
|
rs724160020
|
|
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln)
|
rs869025340
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys)
|
rs1064794694
|
|
NM_004493.3(HSD17B10):c.634A>G (p.Lys212Glu)
|
rs886041974
|
|
NM_004663.5(RAB11A):c.461C>T (p.Ser154Leu)
|
|
|
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)
|
rs1648636515
|
|
NM_004722.4(AP4M1):c.1129del (p.Leu377fs)
|
rs1432802140
|
|
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)
|
rs869312666
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del)
|
rs1064797219
|
|
NM_005430.4(WNT1):c.999_1021del (p.Thr336fs)
|
rs1941014492
|
|
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys)
|
rs2149946003
|
|
NM_005859.5(PURA):c.45_60dup (p.Leu21fs)
|
rs1581036015
|
|
NM_005859.5(PURA):c.692T>G (p.Phe231Cys)
|
rs1554129113
|
|
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)
|
rs1057517991
|
|
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)
|
rs483352911
|
|
NM_005993.5(TBCD):c.230A>G (p.His77Arg)
|
rs1409600874
|
|
NM_006009.4(TUBA1A):c.236G>A (p.Arg79His)
|
rs1942181364
|
|
NM_006017.3(PROM1):c.1578+1G>A
|
rs1553901823
|
|
NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg)
|
rs1131691696
|
|
NM_006204.4(PDE6C):c.2367+1_2367+5del
|
rs796051871
|
|
NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg)
|
rs1576935161
|
|
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs)
|
rs1593733806
|
|
NM_006231.4(POLE):c.6623del (p.Gln2208fs)
|
rs1555301070
|
|
NM_006269.2(RP1):c.2161del (p.Gly723fs)
|
rs755429480
|
|
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter)
|
rs1488237523
|
|
NM_006269.2(RP1):c.2700dup (p.Pro901fs)
|
rs797044735
|
|
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met)
|
rs1911391944
|
|
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)
|
rs1555550617
|
|
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)
|
rs864309522
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)
|
rs387907313
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006565.4(CTCF):c.950_951dup (p.Gly318fs)
|
rs1470210640
|
|
NM_006579.3(EBP):c.293C>T (p.Ser98Phe)
|
rs2147154765
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006767.4(LZTR1):c.1447C>T (p.Gln483Ter)
|
rs752547717
|
|
NM_006767.4(LZTR1):c.2412dup (p.Lys805fs)
|
rs1924895839
|
|
NM_006767.4(LZTR1):c.791+1G>A
|
rs148031742
|
|
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp)
|
rs1567948262
|
|
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)
|
rs1554986337
|
|
NM_007118.4(TRIO):c.4282C>T (p.Arg1428Ter)
|
rs1747351128
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_012210.4(TRIM32):c.1108del (p.Met370fs)
|
rs759376012
|
|
NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys)
|
rs2134048726
|
|
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs)
|
rs199470480
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
NM_013382.7(POMT2):c.1658dup (p.Asn553fs)
|
rs886043110
|
|
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs)
|
rs1572027164
|
|
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)
|
rs1555791268
|
|
NM_014270.5(SLC7A9):c.956_957dup (p.Thr320fs)
|
rs770340227
|
|
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
|
|
|
NM_014704.4(CEP104):c.1891C>T (p.Arg631Ter)
|
rs1644169357
|
|
NM_014915.3(ANKRD26):c.-118C>T
|
rs1589393759
|
|
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs)
|
rs1553317029
|
|
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser)
|
rs1267383375
|
|
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)
|
rs1563292586
|
|
NM_015909.4(NBAS):c.2950del (p.Ile984fs)
|
rs776797592
|
|
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)
|
rs864622520
|
|
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del)
|
rs1555546699
|
|
NM_016333.4(SRRM2):c.7748_7758del (p.Thr2583fs)
|
|
|
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val)
|
rs1227163239
|
|
NM_018474.6(KIZ):c.251_258del (p.Phe84fs)
|
rs1254494198
|
|
NM_018676.4(THSD1):c.1627_1630del (p.Lys543fs)
|
|
|
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)
|
rs772429581
|
|
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)
|
rs755184077
|
|
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp)
|
rs752514808
|
|
NM_021008.4(DEAF1):c.700T>G (p.Trp234Gly)
|
rs1057524157
|
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634
|
|
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg)
|
rs727505376
|
|
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter)
|
rs1566786613
|
|
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)
|
rs1057517933
|
|
NM_024747.6(HPS6):c.1054_1055del (p.Arg352fs)
|
|
|
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)
|
rs775517752
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)
|
rs727504382
|
|
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)
|
rs1554700678
|
|
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)
|
rs1064797235
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs)
|
rs1754555183
|
|
NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys)
|
rs12799308
|
|
NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer)
|
rs1594131663
|
|
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)
|
rs587777729
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp)
|
rs281874683
|
|
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys)
|
rs786203988
|
|
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr)
|
rs2139519168
|
|
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs)
|
rs587782286
|
|
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter)
|
rs374156844
|
|
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys)
|
rs762550967
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter)
|
rs863224052
|
|
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs)
|
rs1886427331
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)
|
rs552219028
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153717.3(EVC):c.384+5G>C
|
rs1553865348
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)
|
rs1600789325
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)
|
rs74315392
|
|
NM_183065.4(TMEM107):c.*622G>C
|
rs201266955
|
|
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer)
|
rs2108622234
|
|
NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln)
|
rs1332489637
|
|
NM_198503.5(KCNT2):c.569G>A (p.Arg190His)
|
rs1572547466
|
|
NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu)
|
rs1581453572
|
|
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys)
|
rs1390117240
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|