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_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)
|
rs61730849
|
0.00180
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
NM_001486.4(GCKR):c.1135dup (p.Thr379fs)
|
rs573498430
|
0.00149
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs)
|
rs771427543
|
0.00106
|
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)
|
rs146803767
|
0.00093
|
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)
|
rs200631556
|
0.00090
|
NM_022829.6(SLC13A3):c.1016+3A>G
|
rs199961976
|
0.00078
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00077
|
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr)
|
rs55831733
|
0.00074
|
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)
|
rs145146218
|
0.00070
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_001195248.2(APTX):c.-5+1G>T
|
rs146487634
|
0.00062
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
NM_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00044
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000505.4(F12):c.1681-1G>A
|
rs199988476
|
0.00036
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
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_183065.4(TMEM107):c.*638C>T
|
rs368022715
|
0.00032
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys)
|
rs141476300
|
0.00030
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00029
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00028
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
|
rs189601972
|
0.00025
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)
|
rs121913010
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)
|
rs139024319
|
0.00016
|
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr)
|
rs149652495
|
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_003504.5(CDC45):c.1416C>T (p.His472=)
|
rs190155337
|
0.00014
|
NM_001851.6(COL9A1):c.876+2T>A
|
rs149830493
|
0.00013
|
NM_007374.3(SIX6):c.473A>C (p.Lys158Thr)
|
rs749617848
|
0.00013
|
NM_006736.6(DNAJB2):c.230-2A>G
|
rs369661561
|
0.00012
|
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)
|
rs374963946
|
0.00012
|
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)
|
rs199638166
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
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_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter)
|
rs200468440
|
0.00010
|
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter)
|
rs1407028917
|
0.00010
|
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)
|
rs41279408
|
0.00010
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys)
|
rs201643277
|
0.00009
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036
|
0.00008
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)
|
rs200129338
|
0.00008
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
NM_139076.3(ABRAXAS1):c.1082G>A (p.Arg361Gln)
|
rs201627097
|
0.00008
|
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
|
rs145952475
|
0.00007
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_000047.3(ARSL):c.1163G>A (p.Arg388His)
|
rs754500316
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met)
|
rs144691257
|
0.00006
|
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter)
|
rs369755459
|
0.00006
|
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)
|
rs63750869
|
0.00006
|
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp)
|
rs778665661
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
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_017882.3(CLN6):c.278C>T (p.Thr93Met)
|
rs150001589
|
0.00006
|
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His)
|
rs576243101
|
0.00006
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp)
|
rs781834630
|
0.00005
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu)
|
rs201842856
|
0.00005
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)
|
rs767864243
|
0.00005
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys)
|
rs200581623
|
0.00004
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu)
|
rs559063155
|
0.00004
|
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln)
|
rs769195904
|
0.00004
|
NM_017837.4(PIGV):c.614A>G (p.Asn205Ser)
|
rs766452597
|
0.00004
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter)
|
rs201698934
|
0.00004
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000548.5(TSC2):c.5260-1G>C
|
rs1057518103
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
|
rs760420191
|
0.00003
|
NM_022168.4(IFIH1):c.2045-1G>A
|
rs748813106
|
0.00003
|
NC_000011.10:g.5227261C>T
|
rs753344875
|
0.00002
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_000157.4(GBA1):c.901C>T (p.Arg301Cys)
|
rs374117599
|
0.00002
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)
|
rs199472813
|
0.00002
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)
|
rs773837400
|
0.00002
|
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)
|
rs750247691
|
0.00002
|
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)
|
rs751030969
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln)
|
rs766717305
|
0.00002
|
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp)
|
rs774980346
|
0.00002
|
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)
|
rs372068015
|
0.00002
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys)
|
rs769832110
|
0.00002
|
NM_176787.5(PIGN):c.787C>A (p.His263Asn)
|
rs376934090
|
0.00002
|
NR_003051.4(RMRP):n.16G>T
|
rs902313238
|
0.00002
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)
|
rs1157720606
|
0.00001
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
NM_000162.5(GCK):c.755G>T (p.Cys252Phe)
|
rs1372204515
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.445G>A (p.Glu149Lys)
|
rs773740053
|
0.00001
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
0.00001
|
NM_000275.3(OCA2):c.2079G>A (p.Glu693=)
|
rs1374558186
|
0.00001
|
NM_000277.3(PAH):c.169G>A (p.Glu57Lys)
|
rs140945592
|
0.00001
|
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)
|
rs768002493
|
0.00001
|
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys)
|
rs918933961
|
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_000434.4(NEU1):c.869G>A (p.Arg290Gln)
|
rs758877243
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu)
|
rs886894962
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.472C>T (p.Arg158Cys)
|
rs587780068
|
0.00001
|
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser)
|
rs771055145
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)
|
rs199422117
|
0.00001
|
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)
|
rs558187116
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly)
|
rs779408186
|
0.00001
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter)
|
rs901811301
|
0.00001
|
NM_001371986.1(UNC80):c.8723G>A (p.Arg2908Gln)
|
rs1255262851
|
0.00001
|
NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr)
|
rs724159960
|
0.00001
|
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr)
|
rs759993423
|
0.00001
|
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)
|
rs140079523
|
0.00001
|
NM_002693.3(POLG):c.926G>A (p.Arg309His)
|
rs780953863
|
0.00001
|
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)
|
rs762126547
|
0.00001
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln)
|
rs758701470
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_004985.5(KRAS):c.149C>T (p.Thr50Ile)
|
rs1407509439
|
0.00001
|
NM_005228.5(EGFR):c.2386G>A (p.Gly796Ser)
|
rs754426793
|
0.00001
|
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)
|
rs758468167
|
0.00001
|
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)
|
rs121913561
|
0.00001
|
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His)
|
rs139412383
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006907.4(PYCR1):c.797+2T>C
|
rs768235246
|
0.00001
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007289.4(MME):c.1753G>A (p.Glu585Lys)
|
rs757277227
|
0.00001
|
NM_014249.4(NR2E3):c.931C>T (p.Arg311Trp)
|
rs767442358
|
0.00001
|
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)
|
rs755315693
|
0.00001
|
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585
|
0.00001
|
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly)
|
rs1553321245
|
0.00001
|
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys)
|
rs370526257
|
0.00001
|
NM_017534.6(MYH2):c.5472+1G>A
|
rs758888662
|
0.00001
|
NM_017763.6(RNF43):c.1111C>T (p.Arg371Ter)
|
rs771831816
|
0.00001
|
NM_020745.4(AARS2):c.959C>T (p.Ala320Val)
|
rs201471937
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter)
|
rs761508149
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser)
|
rs375343753
|
0.00001
|
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn)
|
rs751780827
|
0.00001
|
NM_152305.3(POGLUT1):c.922T>C (p.Trp308Arg)
|
rs763045710
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)
|
rs575008764
|
0.00001
|
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)
|
rs398123089
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly)
|
rs1572039465
|
|
NM_000070.3(CAPN3):c.1745+4_1745+7del
|
rs794727082
|
|
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)
|
rs772384826
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
NM_000117.3(EMD):c.548C>T (p.Pro183Leu)
|
rs104894805
|
|
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)
|
rs770925947
|
|
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn)
|
rs1353623780
|
|
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
|
|
|
NM_000193.4(SHH):c.1222GGC[5] (p.Gly411dup)
|
rs769920627
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg)
|
rs1555831004
|
|
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser)
|
rs2122615095
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe)
|
rs63751713
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn)
|
rs397516093
|
|
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr)
|
rs606231332
|
|
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn)
|
rs730880895
|
|
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)
|
rs727504356
|
|
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu)
|
rs36211715
|
|
NM_000257.4(MYH7):c.686C>T (p.Ala229Val)
|
rs876657888
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
|
rs2048199652
|
|
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr)
|
rs1554893824
|
|
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)
|
rs1554825266
|
|
NM_000335.5(SCN5A):c.4343A>T (p.Tyr1448Phe)
|
rs199473613
|
|
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu)
|
rs1570394071
|
|
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)
|
rs368846708
|
|
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys)
|
rs2135332829
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
NM_000398.7(CYB5R3):c.434C>T (p.Pro145Leu)
|
|
|
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
|
|
|
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys)
|
rs753801611
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
|
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg)
|
rs745454291
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)
|
rs730882102
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
|
|
|
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)
|
rs1555803810
|
|
NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr)
|
rs1568605367
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile)
|
rs28934002
|
|
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val)
|
rs1553244740
|
|
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe)
|
rs2061710859
|
|
NM_000944.5(PPP3CA):c.700G>C (p.Asp234His)
|
rs2110249848
|
|
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs)
|
rs780114238
|
|
NM_001001548.3(CD36):c.660_669del (p.Asn220fs)
|
rs778808650
|
|
NM_001002010.5(NT5C3A):c.895-2A>G
|
rs1583884979
|
|
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs)
|
rs762904815
|
|
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser)
|
rs2092338268
|
|
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
|
|
|
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)
|
rs794728799
|
|
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser)
|
rs1558879940
|
|
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met)
|
rs1064796373
|
|
NM_001042492.3(NF1):c.-272G>A
|
rs1911510393
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu)
|
rs1057519223
|
|
NM_001080449.3(DNA2):c.1244del (p.Cys415fs)
|
|
|
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly)
|
rs751031650
|
|
NM_001098.3(ACO2):c.2011C>T (p.Arg671Trp)
|
rs377518755
|
|
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)
|
rs1553255312
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val)
|
rs2092522027
|
|
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys)
|
rs1591664697
|
|
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile)
|
rs752775574
|
|
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr)
|
rs1574060743
|
|
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp)
|
rs1553532470
|
|
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)
|
rs398123592
|
|
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)
|
rs779184118
|
|
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)
|
rs1057517687
|
|
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs)
|
rs1347914291
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)
|
rs2040817364
|
|
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)
|
rs753385776
|
|
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp)
|
rs2082929857
|
|
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)
|
rs1602292076
|
|
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)
|
rs993001712
|
|
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys)
|
rs1555410941
|
|
NM_001378969.1(KCND3):c.1489_1490del (p.Leu497fs)
|
rs1664228420
|
|
NM_001395891.1(CLASP1):c.196-607G>A
|
rs180755563
|
|
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
|
rs747325717
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
NM_001673.5(ASNS):c.1283A>G (p.Tyr428Cys)
|
rs1791279467
|
|
NM_001723.7(DST):c.22del (p.Tyr8fs)
|
rs775912185
|
|
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)
|
|
|
NM_001846.4(COL4A2):c.1759G>A (p.Gly587Ser)
|
|
|
NM_001846.4(COL4A2):c.2285G>A (p.Gly762Glu)
|
rs1882538642
|
|
NM_001942.4(DSG1):c.1684G>A (p.Gly562Arg)
|
rs2071779127
|
|
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)
|
rs775256998
|
|
NM_002225.5(IVD):c.863C>T (p.Ala288Val)
|
rs886042098
|
|
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln)
|
rs200389686
|
|
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)
|
rs147334255
|
|
NM_002709.3(PPP1CB):c.104G>A (p.Arg35Gln)
|
|
|
NM_002739.5(PRKCG):c.1764+1G>A
|
rs1406338491
|
|
NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe)
|
rs1925561449
|
|
NM_002775.5(HTRA1):c.523G>C (p.Val175Leu)
|
|
|
NM_003049.4(SLC10A1):c.34_38del (p.Phe12fs)
|
rs747530550
|
|
NM_003070.5(SMARCA2):c.3314G>T (p.Arg1105Leu)
|
rs281875197
|
|
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg)
|
rs1387467529
|
|
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)
|
rs151249432
|
|
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)
|
rs368541637
|
|
NM_003332.4(TYROBP):c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC (p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGlyAspArgAspGlyArg)
|
rs762708303
|
|
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs)
|
rs752784904
|
|
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter)
|
rs775898119
|
|
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala)
|
rs2150526768
|
|
NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)
|
|
|
NM_004006.3(DMD):c.649G>A (p.Asp217Asn)
|
rs2077187880
|
|
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys)
|
rs281865531
|
|
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)
|
rs534388496
|
|
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)
|
rs864321629
|
|
NM_004928.3(CFAP410):c.96+4del
|
rs1268187387
|
|
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys)
|
rs1601071708
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg)
|
rs755557498
|
|
NM_005214.5(CTLA4):c.118G>A (p.Val40Met)
|
rs1553657378
|
|
NM_005236.3(ERCC4):c.580_584+1del
|
rs776329282
|
|
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val)
|
rs1574509510
|
|
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter)
|
rs1447391811
|
|
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys)
|
rs2149946003
|
|
NM_005861.4(STUB1):c.824del (p.Leu275fs)
|
rs2039704654
|
|
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln)
|
rs1566991387
|
|
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys)
|
rs760631912
|
|
NM_006009.4(TUBA1A):c.528G>C (p.Gln176His)
|
|
|
NM_006015.6(ARID1A):c.5125C>T (p.Leu1709Phe)
|
rs2081163988
|
|
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs)
|
rs1593733806
|
|
NM_006231.4(POLE):c.6623del (p.Gln2208fs)
|
rs1555301070
|
|
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)
|
rs1064797215
|
|
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)
|
rs587777009
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del)
|
rs755783378
|
|
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr)
|
rs1598820805
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
NM_014249.4(NR2E3):c.223G>T (p.Val75Leu)
|
rs750284532
|
|
NM_014585.6(SLC40A1):c.238G>T (p.Gly80Cys)
|
|
|
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)
|
rs145206063
|
|
NM_014975.3(MAST1):c.1565G>A (p.Gly522Glu)
|
rs1323140691
|
|
NM_014989.7(RIMS1):c.3194+1G>A
|
rs1057519205
|
|
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser)
|
rs1267383375
|
|
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)
|
rs768574664
|
|
NM_015713.5(RRM2B):c.790-2A>G
|
rs1441534206
|
|
NM_015909.4(NBAS):c.7041_7043del (p.Leu2348del)
|
rs1485416933
|
|
NM_016247.4(IMPG2):c.3713+5G>A
|
rs1706250496
|
|
NM_017654.4(SAMD9):c.4198C>T (p.Pro1400Ser)
|
rs1584251663
|
|
NM_018319.4(TDP1):c.341_342del (p.Lys114fs)
|
rs769278668
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_019888.3(MC3R):c.892_893delinsTC (p.Ile298Ser)
|
rs2146061616
|
|
NM_020365.5(EIF2B3):c.32G>T (p.Gly11Val)
|
rs754415797
|
|
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)
|
rs755184077
|
|
NM_022124.6(CDH23):c.5820+5G>A
|
rs2132940635
|
|
NM_022765.4(MICAL1):c.2291_2300del (p.Gly764fs)
|
rs1447618526
|
|
NM_023110.3(FGFR1):c.2153G>A (p.Arg718His)
|
rs1415925468
|
|
NM_024422.6(DSC2):c.2398del (p.Ala800fs)
|
rs397517399
|
|
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter)
|
rs1555377415
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)
|
rs587780332
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_030773.4(TUBB1):c.745G>C (p.Asp249His)
|
rs2091981798
|
|
NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro)
|
rs754120063
|
|
NM_032415.7(CARD11):c.128C>T (p.Thr43Met)
|
rs2115094112
|
|
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)
|
rs200628199
|
|
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu)
|
rs368625962
|
|
NM_032833.5(PPP1R15B):c.1973G>A (p.Arg658His)
|
rs759466766
|
|
NM_032856.5(WDR73):c.1132del (p.Arg378fs)
|
rs747109506
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)
|
rs376371866
|
|
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup)
|
rs755700896
|
|
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg)
|
rs1172866556
|
|
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn)
|
rs2139752892
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_139242.4(MTFMT):c.645+3A>G
|
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys)
|
rs1562789302
|
|
NM_172362.3(KCNH1):c.1478C>A (p.Thr493Asn)
|
rs1574266171
|
|
NM_173689.7(CRB2):c.597_600delinsTCATGTCAACGTGCCCTGGTCAACGGGCACCCGT (p.His200_Asp201insValAsnValProTrpSerThrGlyThrArg)
|
rs2132756010
|
|
NM_175914.5(HNF4A):c.239G>A (p.Cys80Tyr)
|
rs2146375487
|
|
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter)
|
rs151331559
|
|
NM_176869.3(PPA2):c.939+2T>C
|
rs757950857
|
|
NM_183065.4(TMEM107):c.*718G>A
|
rs201686383
|
|
NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln)
|
rs1332489637
|
|
NM_198253.3(TERT):c.-124C>T
|
rs1242535815
|
|
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs)
|
rs760886419
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs)
|
rs1064797278
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|