NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_206933.4(USH2A):c.12066+4409C>G
|
rs115494070
|
0.00638
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr)
|
rs61755050
|
0.00371
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys)
|
rs139161034
|
0.00343
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NR_003051.4(RMRP):n.129G>C
|
rs74810894
|
0.00319
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)
|
rs41473544
|
0.00251
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)
|
rs139084702
|
0.00200
|
NM_001374504.1(TMPRSS6):c.307C>T (p.Arg103Cys)
|
rs113803353
|
0.00199
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg)
|
rs61751972
|
0.00190
|
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)
|
rs145164937
|
0.00190
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met)
|
rs142573385
|
0.00173
|
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)
|
rs148671332
|
0.00172
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_004946.3(DOCK2):c.4201G>T (p.Ala1401Ser)
|
rs143100569
|
0.00161
|
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)
|
rs142007602
|
0.00161
|
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala)
|
rs139453594
|
0.00157
|
NM_015175.3(NBEAL2):c.3384+5G>A
|
rs370559049
|
0.00156
|
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)
|
rs200239963
|
0.00153
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
NM_144672.4(OTOA):c.2417A>C (p.Tyr806Ser)
|
rs464691
|
0.00141
|
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
|
rs144979314
|
0.00140
|
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser)
|
rs534942001
|
0.00140
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_001557.4(CXCR2):c.458G>A (p.Arg153His)
|
rs55799208
|
0.00139
|
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter)
|
rs147328317
|
0.00135
|
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro)
|
rs145284139
|
0.00133
|
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln)
|
rs145229115
|
0.00131
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_001387430.1(SH2B1):c.269C>A (p.Pro90His)
|
rs149091795
|
0.00124
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)
|
rs61754263
|
0.00116
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00116
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_005245.4(FAT1):c.11497A>G (p.Thr3833Ala)
|
rs201279606
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00107
|
NM_001256071.3(RNF213):c.6979A>G (p.Asn2327Asp)
|
rs138044665
|
0.00106
|
NM_024027.5(COLEC11):c.191C>T (p.Thr64Met)
|
rs142369741
|
0.00106
|
NM_033004.4(NLRP1):c.406G>A (p.Val136Ile)
|
rs142484301
|
0.00105
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu)
|
rs104895431
|
0.00103
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)
|
rs144217005
|
0.00098
|
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)
|
rs145019640
|
0.00098
|
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala)
|
rs143724414
|
0.00097
|
NM_000878.5(IL2RB):c.459A>C (p.Glu153Asp)
|
rs149258462
|
0.00096
|
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met)
|
rs147974432
|
0.00096
|
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met)
|
rs143080187
|
0.00094
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His)
|
rs115035890
|
0.00093
|
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)
|
rs146803767
|
0.00093
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg)
|
rs144081297
|
0.00090
|
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)
|
rs140918583
|
0.00089
|
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)
|
rs146460077
|
0.00089
|
NM_194248.3(OTOF):c.3385G>A (p.Val1129Met)
|
rs138249243
|
0.00089
|
NM_000208.4(INSR):c.959C>T (p.Thr320Met)
|
rs138528064
|
0.00087
|
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)
|
rs138225703
|
0.00086
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_014324.6(AMACR):c.554T>C (p.Val185Ala)
|
rs145786819
|
0.00084
|
NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser)
|
rs146614981
|
0.00083
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His)
|
rs35973133
|
0.00081
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
NM_003151.4(STAT4):c.1337C>T (p.Thr446Ile)
|
rs141331848
|
0.00080
|
NM_130810.4(DNAAF4):c.862A>G (p.Lys288Glu)
|
rs147149511
|
0.00079
|
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)
|
rs140954748
|
0.00078
|
NM_014669.5(NUP93):c.2342G>A (p.Arg781His)
|
rs147381896
|
0.00077
|
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser)
|
rs144900788
|
0.00076
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr)
|
rs200173947
|
0.00074
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys)
|
rs147973409
|
0.00073
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu)
|
rs140741466
|
0.00073
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_001061.7(TBXAS1):c.621T>A (p.Asp207Glu)
|
rs143125111
|
0.00072
|
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)
|
rs146630369
|
0.00072
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_002303.6(LEPR):c.2260G>A (p.Val754Met)
|
rs150936702
|
0.00071
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
|
rs139717960
|
0.00069
|
NM_145059.3(FCSK):c.1124C>G (p.Pro375Arg)
|
rs200044033
|
0.00069
|
NM_006059.4(LAMC3):c.3674T>C (p.Val1225Ala)
|
rs138481447
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)
|
rs142752989
|
0.00067
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
|
rs143451766
|
0.00065
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000631.5(NCF4):c.647C>T (p.Thr216Met)
|
rs146911421
|
0.00064
|
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)
|
rs201503021
|
0.00064
|
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)
|
rs143590990
|
0.00064
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly)
|
rs151078160
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001379500.1(COL18A1):c.107-12197G>A
|
rs200284308
|
0.00063
|
NM_004525.3(LRP2):c.7747G>A (p.Val2583Met)
|
rs145201961
|
0.00063
|
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
|
rs199538589
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)
|
rs145734811
|
0.00058
|
NM_005068.3(SIM1):c.2119G>C (p.Asp707His)
|
rs74726213
|
0.00058
|
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)
|
rs149600313
|
0.00058
|
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
|
rs78211353
|
0.00057
|
NM_080473.5(GATA5):c.287C>G (p.Ala96Gly)
|
rs113823160
|
0.00057
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln)
|
rs146664125
|
0.00056
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_001041.4(SI):c.2888G>A (p.Arg963Lys)
|
rs148434280
|
0.00055
|
NM_001256071.3(RNF213):c.13592C>T (p.Pro4531Leu)
|
rs143904490
|
0.00055
|
NM_002907.4(RECQL):c.406G>A (p.Val136Ile)
|
rs138278747
|
0.00055
|
NM_001041.4(SI):c.3772A>G (p.Thr1258Ala)
|
rs144579834
|
0.00054
|
NM_001093.4(ACACB):c.3597G>A (p.Ser1199=)
|
rs148241794
|
0.00054
|
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu)
|
rs150615481
|
0.00054
|
NM_000268.4(NF2):c.1737+2098A>G
|
rs75296199
|
0.00053
|
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)
|
rs1003914966
|
0.00053
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
NM_000384.3(APOB):c.895T>G (p.Phe299Val)
|
rs72653060
|
0.00051
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_001852.4(COL9A2):c.335T>G (p.Leu112Arg)
|
rs143008970
|
0.00051
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)
|
rs149598144
|
0.00051
|
NM_015466.4(PTPN23):c.3051G>C (p.Gln1017His)
|
rs201017613
|
0.00051
|
NM_020975.6(RET):c.405C>T (p.Gly135=)
|
rs142345108
|
0.00051
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00051
|
NM_000540.3(RYR1):c.13999-19G>A
|
rs775494152
|
0.00050
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
|
rs138511699
|
0.00050
|
NM_000535.7(PMS2):c.354-34C>G
|
rs200029834
|
0.00049
|
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)
|
rs59157279
|
0.00049
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly)
|
rs550322372
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
NM_138295.5(PKD1L1):c.5108G>A (p.Arg1703His)
|
rs146605392
|
0.00047
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)
|
rs972049140
|
0.00046
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_018685.5(ANLN):c.2462C>T (p.Thr821Met)
|
rs150551001
|
0.00046
|
NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp)
|
rs149726976
|
0.00046
|
NM_173689.7(CRB2):c.38C>T (p.Ala13Val)
|
rs199695001
|
0.00046
|
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val)
|
rs151094543
|
0.00046
|
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)
|
rs72547505
|
0.00045
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_006031.6(PCNT):c.9800G>A (p.Arg3267His)
|
rs200268000
|
0.00045
|
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)
|
rs201711410
|
0.00045
|
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu)
|
rs142700351
|
0.00044
|
NM_003737.4(DCHS1):c.3764C>T (p.Thr1255Met)
|
rs147152025
|
0.00044
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)
|
rs145673747
|
0.00043
|
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser)
|
rs142718547
|
0.00043
|
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr)
|
rs144710810
|
0.00043
|
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln)
|
rs146793133
|
0.00042
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
NM_001384474.1(LOXHD1):c.5237T>C (p.Leu1746Pro)
|
rs372241056
|
0.00041
|
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)
|
rs138962786
|
0.00041
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
|
rs201922441
|
0.00040
|
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487
|
0.00039
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys)
|
rs200127338
|
0.00039
|
NM_006121.4(KRT1):c.651G>C (p.Gln217His)
|
rs201584652
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu)
|
rs138130715
|
0.00037
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)
|
rs145728297
|
0.00036
|
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)
|
rs757120802
|
0.00036
|
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)
|
rs200069356
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00036
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00036
|
NM_033004.4(NLRP1):c.103A>G (p.Arg35Gly)
|
rs201788309
|
0.00036
|
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile)
|
rs34256013
|
0.00036
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001171.6(ABCC6):c.2602G>A (p.Gly868Arg)
|
rs114349489
|
0.00035
|
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile)
|
rs545321215
|
0.00035
|
NM_005002.5(NDUFA9):c.809G>A (p.Arg270Gln)
|
rs200750609
|
0.00035
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val)
|
rs137946207
|
0.00034
|
NM_000441.1(SLC26A4):c.-60A>G
|
rs545973091
|
0.00034
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)
|
rs113998091
|
0.00034
|
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=)
|
rs144092577
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_020821.3(VPS13C):c.10955G>A (p.Arg3652Gln)
|
rs146072191
|
0.00034
|
NM_025074.7(FRAS1):c.4334C>T (p.Thr1445Ile)
|
rs200123789
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_212482.4(FN1):c.6047C>T (p.Pro2016Leu)
|
rs139452116
|
0.00034
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_020738.4(KIDINS220):c.355G>A (p.Val119Ile)
|
rs200899102
|
0.00033
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00032
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00032
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_001127208.3(TET2):c.3409+15T>A
|
rs192879693
|
0.00031
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)
|
rs200226466
|
0.00031
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
0.00031
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
0.00031
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
NM_002303.6(LEPR):c.1713G>T (p.Gln571His)
|
rs141393785
|
0.00031
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
NM_003998.4(NFKB1):c.2831C>A (p.Thr944Asn)
|
rs143882681
|
0.00031
|
NM_194248.3(OTOF):c.4023+1G>A
|
rs186810296
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His)
|
rs139849372
|
0.00030
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000077.5(CDKN2A):c.-14C>T
|
rs764244718
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)
|
rs77086616
|
0.00029
|
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)
|
rs767013819
|
0.00029
|
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)
|
rs200676965
|
0.00029
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
NM_030632.3(ASXL3):c.2342C>T (p.Pro781Leu)
|
rs201776257
|
0.00029
|
NM_002439.5(MSH3):c.2262A>G (p.Ile754Met)
|
rs200819607
|
0.00028
|
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)
|
rs369899077
|
0.00028
|
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)
|
rs143560718
|
0.00028
|
NM_015330.6(SPECC1L):c.2003C>T (p.Thr668Met)
|
rs143004795
|
0.00028
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)
|
rs201388841
|
0.00027
|
NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val)
|
rs200845575
|
0.00027
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)
|
rs182683829
|
0.00026
|
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile)
|
rs145668112
|
0.00026
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
NM_013275.6(ANKRD11):c.7714-3C>A
|
rs199741062
|
0.00026
|
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)
|
rs142917412
|
0.00026
|
NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser)
|
rs150977210
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)
|
rs570708095
|
0.00026
|
NM_172362.3(KCNH1):c.2779C>G (p.Leu927Val)
|
rs140435478
|
0.00026
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)
|
rs139329616
|
0.00025
|
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=)
|
rs146097023
|
0.00025
|
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)
|
rs140590144
|
0.00025
|
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)
|
rs199796249
|
0.00025
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00025
|
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)
|
rs200739891
|
0.00025
|
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
|
rs28903092
|
0.00025
|
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln)
|
rs144253015
|
0.00025
|
NM_015512.5(DNAH1):c.9302A>G (p.Lys3101Arg)
|
rs199884450
|
0.00025
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)
|
rs201738475
|
0.00024
|
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=)
|
rs143566075
|
0.00024
|
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser)
|
rs137860861
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)
|
rs375897519
|
0.00024
|
NM_019066.5(MAGEL2):c.135T>A (p.Asp45Glu)
|
rs1273933786
|
0.00024
|
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)
|
rs377703085
|
0.00024
|
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)
|
rs200719553
|
0.00024
|
NM_032634.4(PIGO):c.794G>A (p.Arg265His)
|
rs200924324
|
0.00024
|
NM_000143.4(FH):c.4T>C (p.Tyr2His)
|
rs112335468
|
0.00023
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)
|
rs141293060
|
0.00023
|
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)
|
rs146592584
|
0.00023
|
NM_017654.4(SAMD9):c.1880del (p.Ser627fs)
|
rs767270627
|
0.00023
|
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)
|
rs201665434
|
0.00022
|
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)
|
rs141193981
|
0.00022
|
NM_000537.4(REN):c.961-5C>A
|
rs186717113
|
0.00022
|
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)
|
rs145325518
|
0.00022
|
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)
|
rs143110172
|
0.00022
|
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu)
|
rs546499094
|
0.00022
|
NM_033641.4(COL4A6):c.3455T>C (p.Ile1152Thr)
|
rs201355021
|
0.00022
|
NM_000143.4(FH):c.1303G>A (p.Val435Met)
|
rs147528200
|
0.00021
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)
|
rs574880967
|
0.00021
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_001042492.3(NF1):c.1062+113A>G
|
rs868553650
|
0.00021
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu)
|
rs200700386
|
0.00021
|
NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr)
|
rs183191959
|
0.00021
|
NM_001348800.3(ZBTB20):c.188G>A (p.Gly63Glu)
|
rs182068139
|
0.00021
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)
|
rs141254777
|
0.00021
|
NM_144670.6(A2ML1):c.221G>C (p.Arg74Thr)
|
rs77657214
|
0.00021
|
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys)
|
rs367937691
|
0.00021
|
NM_001097577.3(ANG):c.3G>A (p.Met1Ile)
|
rs201068740
|
0.00020
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp)
|
rs201859188
|
0.00020
|
NM_001354604.2(MITF):c.316C>T (p.Leu106Phe)
|
rs371080525
|
0.00020
|
NM_001734.5(C1S):c.1114G>T (p.Asp372Tyr)
|
rs201750214
|
0.00020
|
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)
|
rs377122126
|
0.00020
|
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly)
|
rs546234840
|
0.00020
|
NM_006031.6(PCNT):c.5370C>T (p.Gly1790=)
|
rs192388432
|
0.00020
|
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile)
|
rs113208348
|
0.00020
|
NM_017757.3(ZNF407):c.4010A>G (p.Tyr1337Cys)
|
rs760492866
|
0.00020
|
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)
|
rs34227547
|
0.00020
|
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)
|
rs141638933
|
0.00020
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988
|
0.00019
|
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu)
|
rs200124278
|
0.00019
|
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys)
|
rs148426762
|
0.00019
|
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)
|
rs145771708
|
0.00019
|
NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala)
|
rs780629996
|
0.00019
|
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His)
|
rs137914057
|
0.00019
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)
|
rs143206624
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)
|
rs201352584
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
0.00019
|
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)
|
rs183367929
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu)
|
rs201332059
|
0.00019
|
NM_198282.4(STING1):c.575G>T (p.Gly192Val)
|
rs201096097
|
0.00019
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)
|
rs13306300
|
0.00018
|
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met)
|
rs191656849
|
0.00018
|
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)
|
rs201392574
|
0.00018
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser)
|
rs144896235
|
0.00018
|
NM_006231.4(POLE):c.1597G>A (p.Val533Met)
|
rs374140892
|
0.00018
|
NM_006231.4(POLE):c.5636G>A (p.Arg1879His)
|
rs145621558
|
0.00018
|
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)
|
rs373768478
|
0.00018
|
NM_006261.5(PROP1):c.385C>T (p.Arg129Cys)
|
rs140207251
|
0.00018
|
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala)
|
rs144659242
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_080425.4(GNAS):c.1343A>C (p.Asp448Ala)
|
rs776846313
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser)
|
rs371022420
|
0.00017
|
NM_004560.4(ROR2):c.2694G>C (p.Gln898His)
|
rs141070315
|
0.00017
|
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly)
|
rs150726107
|
0.00017
|
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys)
|
rs149032771
|
0.00017
|
NM_025074.7(FRAS1):c.4032G>T (p.Gly1344=)
|
rs371941648
|
0.00017
|
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp)
|
rs1342864499
|
0.00017
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)
|
rs373291490
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)
|
rs200620662
|
0.00016
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
NM_001288705.3(CSF1R):c.237G>A (p.Thr79=)
|
rs146145627
|
0.00016
|
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His)
|
rs375887656
|
0.00016
|
NM_001367624.2(ZNF469):c.8252C>T (p.Ser2751Leu)
|
rs376638940
|
0.00016
|
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)
|
rs143720860
|
0.00016
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu)
|
rs200245957
|
0.00016
|
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His)
|
rs377747403
|
0.00016
|
NM_006031.6(PCNT):c.8528T>G (p.Leu2843Arg)
|
rs569737144
|
0.00016
|
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)
|
rs115452881
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_006506.5(RASA2):c.1960G>A (p.Val654Ile)
|
rs150847466
|
0.00016
|
NM_017654.4(SAMD9):c.662G>A (p.Arg221Gln)
|
rs148603551
|
0.00016
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
NM_000193.4(SHH):c.183G>T (p.Arg61Ser)
|
rs776420800
|
0.00015
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)
|
rs377163678
|
0.00015
|
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)
|
rs146754847
|
0.00015
|
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys)
|
rs374223828
|
0.00015
|
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)
|
rs142498771
|
0.00015
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)
|
rs149418765
|
0.00015
|
NM_000038.6(APC):c.7109G>T (p.Gly2370Val)
|
rs140079759
|
0.00014
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln)
|
rs779063280
|
0.00014
|
NM_001177316.2(SLC34A3):c.305-7G>A
|
rs201109343
|
0.00014
|
NM_001253697.2(ERBIN):c.360G>A (p.Val120=)
|
rs369427319
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.50059A>G (p.Ile16687Val)
|
rs727504194
|
0.00014
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00014
|
NM_001367624.2(ZNF469):c.9620C>T (p.Ala3207Val)
|
rs563202944
|
0.00014
|
NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu)
|
rs777245164
|
0.00014
|
NM_001377265.1(MAPT):c.1070C>T (p.Ser357Leu)
|
rs199644237
|
0.00014
|
NM_001853.4(COL9A3):c.331C>T (p.Pro111Ser)
|
rs374503994
|
0.00014
|
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)
|
rs376194507
|
0.00014
|
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)
|
rs199560824
|
0.00014
|
NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp)
|
rs149615470
|
0.00014
|
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys)
|
rs373917399
|
0.00014
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
NM_006031.6(PCNT):c.2458C>T (p.Arg820Cys)
|
rs369586175
|
0.00014
|
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val)
|
rs369038814
|
0.00014
|
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn)
|
rs150156962
|
0.00014
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn)
|
rs532127028
|
0.00014
|
NM_080646.2(TBX1):c.1162G>A (p.Val388Met)
|
rs375380772
|
0.00014
|
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
|
rs369180298
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.5548-19C>G
|
rs375020048
|
0.00013
|
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln)
|
rs143681974
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly)
|
rs774989939
|
0.00013
|
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile)
|
rs747531733
|
0.00013
|
NM_002439.5(MSH3):c.1194C>T (p.Gly398=)
|
rs141118996
|
0.00013
|
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)
|
rs147289289
|
0.00013
|
NM_002907.4(RECQL):c.86C>T (p.Thr29Met)
|
rs145067169
|
0.00013
|
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)
|
rs200857579
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_004933.3(CDH15):c.107G>A (p.Arg36Gln)
|
rs367770505
|
0.00013
|
NM_005901.6(SMAD2):c.579G>A (p.Leu193=)
|
rs200480021
|
0.00013
|
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)
|
rs200174202
|
0.00013
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_000064.4(C3):c.2861G>A (p.Arg954His)
|
rs139864704
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)
|
rs200263975
|
0.00012
|
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu)
|
rs146810942
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn)
|
rs150189496
|
0.00012
|
NM_001197104.2(KMT2A):c.3722G>C (p.Ser1241Thr)
|
rs142658261
|
0.00012
|
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)
|
rs368806005
|
0.00012
|
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile)
|
rs371286595
|
0.00012
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro)
|
rs762898505
|
0.00012
|
NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)
|
rs864622513
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_003482.4(KMT2D):c.8339C>T (p.Thr2780Met)
|
rs770978212
|
0.00012
|
NM_004183.4(BEST1):c.992G>A (p.Arg331Gln)
|
rs201386186
|
0.00012
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn)
|
rs145034964
|
0.00012
|
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)
|
rs370141550
|
0.00012
|
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)
|
rs201801499
|
0.00012
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
NM_000377.3(WAS):c.206G>C (p.Cys69Ser)
|
rs374283590
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)
|
rs764148985
|
0.00011
|
NM_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
NM_000503.6(EYA1):c.325T>C (p.Tyr109His)
|
rs141779040
|
0.00011
|
NM_000539.3(RHO):c.959C>A (p.Thr320Asn)
|
rs138831590
|
0.00011
|
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)
|
rs45514391
|
0.00011
|
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)
|
rs368633311
|
0.00011
|
NM_001105206.3(LAMA4):c.2719G>A (p.Val907Ile)
|
rs138030555
|
0.00011
|
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)
|
rs376037792
|
0.00011
|
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)
|
rs199834143
|
0.00011
|
NM_001292063.2(OTOG):c.3178C>T (p.His1060Tyr)
|
rs187751015
|
0.00011
|
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)
|
rs141976385
|
0.00011
|
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu)
|
rs371421459
|
0.00011
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
NM_004621.6(TRPC6):c.2770C>T (p.Pro924Ser)
|
rs139330011
|
0.00011
|
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His)
|
rs140416280
|
0.00011
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys)
|
rs200393557
|
0.00011
|
NM_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn)
|
rs201699077
|
0.00011
|
NM_022047.4(DEF6):c.604C>G (p.Leu202Val)
|
rs377311393
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=)
|
rs377231739
|
0.00011
|
NM_080425.4(GNAS):c.897C>A (p.Ser299Arg)
|
rs200409817
|
0.00011
|
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val)
|
rs151033214
|
0.00011
|
NM_000088.4(COL1A1):c.391C>A (p.Arg131=)
|
rs776611767
|
0.00010
|
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)
|
rs370354759
|
0.00010
|
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)
|
rs142474192
|
0.00010
|
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)
|
rs141298868
|
0.00010
|
NM_000548.5(TSC2):c.-30+2T>C
|
rs796053514
|
0.00010
|
NM_001195305.3(BBIP1):c.233G>A (p.Arg78His)
|
rs532149239
|
0.00010
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00010
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met)
|
rs143914684
|
0.00010
|
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)
|
rs370644634
|
0.00010
|
NM_006031.6(PCNT):c.3749G>A (p.Arg1250Gln)
|
rs202005598
|
0.00010
|
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln)
|
rs201503338
|
0.00010
|
NM_006180.6(NTRK2):c.1288C>T (p.His430Tyr)
|
rs145968424
|
0.00010
|
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys)
|
rs769442220
|
0.00010
|
NM_020738.4(KIDINS220):c.2000T>C (p.Ile667Thr)
|
rs139252608
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
NM_053025.4(MYLK):c.1631G>A (p.Arg544Gln)
|
rs146724203
|
0.00010
|
NM_080680.3(COL11A2):c.5071-7C>G
|
rs200548977
|
0.00010
|
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln)
|
rs200160724
|
0.00010
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000094.4(COL7A1):c.3343G>C (p.Gly1115Arg)
|
rs200235451
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000458.4(HNF1B):c.1637T>C (p.Met546Thr)
|
rs551889844
|
0.00009
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=)
|
rs200068725
|
0.00009
|
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr)
|
rs201035636
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)
|
rs751364653
|
0.00009
|
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln)
|
rs551905996
|
0.00009
|
NM_001267550.2(TTN):c.39166G>T (p.Val13056Leu)
|
rs727504201
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_001288705.3(CSF1R):c.470C>T (p.Ser157Leu)
|
rs148673905
|
0.00009
|
NM_001318895.3(FHL2):c.392G>A (p.Arg131His)
|
rs371421189
|
0.00009
|
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)
|
rs763477416
|
0.00009
|
NM_001551.3(IGBP1):c.536T>C (p.Val179Ala)
|
rs368773089
|
0.00009
|
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val)
|
rs72657933
|
0.00009
|
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln)
|
rs200351280
|
0.00009
|
NM_002303.6(LEPR):c.2171T>C (p.Val724Ala)
|
rs375934938
|
0.00009
|
NM_002303.6(LEPR):c.296G>A (p.Cys99Tyr)
|
rs548848340
|
0.00009
|
NM_002755.4(MAP2K1):c.1168G>A (p.Ala390Thr)
|
rs730880500
|
0.00009
|
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu)
|
rs587778453
|
0.00009
|
NM_003722.5(TP63):c.1459C>T (p.Arg487Cys)
|
rs777306829
|
0.00009
|
NM_003742.4(ABCB11):c.1987G>A (p.Ala663Thr)
|
rs371319925
|
0.00009
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
NM_004525.3(LRP2):c.7284T>G (p.Ser2428Arg)
|
rs373362950
|
0.00009
|
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)
|
rs71526461
|
0.00009
|
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala)
|
rs199847432
|
0.00009
|
NM_006031.6(PCNT):c.9334C>T (p.Pro3112Ser)
|
rs534490490
|
0.00009
|
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu)
|
rs377248579
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
NM_015910.7(WDPCP):c.990A>G (p.Ser330=)
|
rs371090606
|
0.00009
|
NM_021076.4(NEFH):c.256G>A (p.Gly86Ser)
|
rs918913612
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu)
|
rs200061071
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)
|
rs537585211
|
0.00008
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00008
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu)
|
rs148831705
|
0.00008
|
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro)
|
rs200499648
|
0.00008
|
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg)
|
rs751367935
|
0.00008
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)
|
rs767911747
|
0.00008
|
NM_006206.6(PDGFRA):c.738A>G (p.Gln246=)
|
rs377699966
|
0.00008
|
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu)
|
rs200997384
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)
|
rs144411000
|
0.00008
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
0.00007
|
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)
|
rs80359088
|
0.00007
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000458.4(HNF1B):c.*22G>A
|
rs200421746
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)
|
rs767805554
|
0.00007
|
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln)
|
rs190288386
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly)
|
rs372353067
|
0.00007
|
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)
|
rs200744555
|
0.00007
|
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)
|
rs397517795
|
0.00007
|
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
NM_001291303.3(FAT4):c.1802A>G (p.Glu601Gly)
|
rs377156485
|
0.00007
|
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys)
|
rs201150987
|
0.00007
|
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys)
|
rs372387693
|
0.00007
|
NM_002230.4(JUP):c.529C>T (p.Arg177Trp)
|
rs148484473
|
0.00007
|
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)
|
rs767426084
|
0.00007
|
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp)
|
rs3087469
|
0.00007
|
NM_003482.4(KMT2D):c.16214G>A (p.Arg5405His)
|
rs566674356
|
0.00007
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
NM_004281.4(BAG3):c.470C>T (p.Ala157Val)
|
rs541080567
|
0.00007
|
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val)
|
rs145101532
|
0.00007
|
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)
|
rs373669861
|
0.00007
|
NM_006031.6(PCNT):c.1876G>A (p.Val626Ile)
|
rs201507947
|
0.00007
|
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
|
rs150047440
|
0.00007
|
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu)
|
rs748386061
|
0.00007
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
NM_080680.3(COL11A2):c.2327G>A (p.Arg776His)
|
rs748159740
|
0.00007
|
NM_173648.4(CCDC141):c.1225C>T (p.Gln409Ter)
|
rs143025382
|
0.00007
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
rs55968715
|
0.00006
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)
|
rs80358862
|
0.00006
|
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
|
rs371067421
|
0.00006
|
NM_000062.3(SERPING1):c.1045C>T (p.Leu349Phe)
|
rs141075266
|
0.00006
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
NM_000142.5(FGFR3):c.1498G>A (p.Ala500Thr)
|
rs751635116
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)
|
rs544222338
|
0.00006
|
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln)
|
rs141953294
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00006
|
NM_000414.4(HSD17B4):c.622+5G>A
|
rs536487449
|
0.00006
|
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met)
|
rs115836330
|
0.00006
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
NM_000540.3(RYR1):c.7229C>T (p.Pro2410Leu)
|
rs145787667
|
0.00006
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)
|
rs200140994
|
0.00006
|
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)
|
rs1064793290
|
0.00006
|
NM_001001331.4(ATP2B2):c.1627G>A (p.Ala543Thr)
|
rs777396418
|
0.00006
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
NM_001130144.3(LTBP3):c.1645C>G (p.Pro549Ala)
|
rs145060640
|
0.00006
|
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)
|
rs150808807
|
0.00006
|
NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu)
|
rs141212932
|
0.00006
|
NM_001177701.3(IFT27):c.547C>T (p.Arg183Trp)
|
rs150387982
|
0.00006
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His)
|
rs750278602
|
0.00006
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)
|
rs371581072
|
0.00006
|
NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His)
|
rs201569135
|
0.00006
|
NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu)
|
rs760368705
|
0.00006
|
NM_001378452.1(ITPR1):c.4572C>T (p.Gly1524=)
|
rs200605212
|
0.00006
|
NM_001387430.1(SH2B1):c.1898-252G>A
|
rs769627655
|
0.00006
|
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)
|
rs775587076
|
0.00006
|
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met)
|
rs375819633
|
0.00006
|
NM_002693.3(POLG):c.154C>A (p.Gln52Lys)
|
rs376683989
|
0.00006
|
NM_002709.3(PPP1CB):c.968C>T (p.Pro323Leu)
|
rs202171795
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_004990.4(MARS1):c.1540-3C>T
|
rs372013808
|
0.00006
|
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)
|
rs370652301
|
0.00006
|
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His)
|
rs546600149
|
0.00006
|
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile)
|
rs372663248
|
0.00006
|
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg)
|
rs752992538
|
0.00006
|
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=)
|
rs755119869
|
0.00006
|
NM_006231.4(POLE):c.1106+20A>G
|
rs200322118
|
0.00006
|
NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met)
|
rs751573593
|
0.00006
|
NM_006941.4(SOX10):c.1077G>C (p.Glu359Asp)
|
rs764180850
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu)
|
rs142392597
|
0.00006
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg)
|
rs201474295
|
0.00006
|
NM_018297.4(NGLY1):c.1268T>A (p.Leu423Gln)
|
rs369598638
|
0.00006
|
NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=)
|
rs141919506
|
0.00006
|
NM_020738.4(KIDINS220):c.1600G>T (p.Ala534Ser)
|
rs199536870
|
0.00006
|
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys)
|
rs376757326
|
0.00006
|
NM_022552.5(DNMT3A):c.76G>A (p.Gly26Arg)
|
rs781524740
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_030665.4(RAI1):c.2951C>T (p.Ala984Val)
|
rs371644042
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_032119.4(ADGRV1):c.3958C>T (p.Arg1320Cys)
|
rs532745096
|
0.00006
|
NM_139058.3(ARX):c.211A>T (p.Ser71Cys)
|
rs587783194
|
0.00006
|
NM_145239.3(PRRT2):c.643C>T (p.Pro215Ser)
|
rs374642875
|
0.00006
|
NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu)
|
rs370123223
|
0.00006
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)
|
rs751126355
|
0.00005
|
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg)
|
rs139972151
|
0.00005
|
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)
|
rs376830015
|
0.00005
|
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
|
rs180714609
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)
|
rs760395277
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp)
|
rs201489630
|
0.00005
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
NM_001267550.2(TTN):c.39230T>C (p.Val13077Ala)
|
rs398124449
|
0.00005
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val)
|
rs370857722
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)
|
rs756584594
|
0.00005
|
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu)
|
rs374162524
|
0.00005
|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)
|
rs74382477
|
0.00005
|
NM_002907.4(RECQL):c.962G>A (p.Cys321Tyr)
|
rs150889040
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys)
|
rs757224600
|
0.00005
|
NM_021969.3(NR0B2):c.532G>A (p.Asp178Asn)
|
rs201991593
|
0.00005
|
NM_030662.4(MAP2K2):c.536G>A (p.Arg179Gln)
|
rs776316565
|
0.00005
|
NM_030665.4(RAI1):c.4726C>T (p.Arg1576Cys)
|
rs199790171
|
0.00005
|
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu)
|
rs747288279
|
0.00005
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
NM_153252.5(BRWD3):c.436A>G (p.Ile146Val)
|
rs758672244
|
0.00005
|
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe)
|
rs2915791
|
0.00005
|
NM_177972.3(TUB):c.1214A>G (p.Asn405Ser)
|
rs189328202
|
0.00005
|
NM_181882.3(PRX):c.2164A>G (p.Met722Val)
|
rs376309142
|
0.00005
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00004
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_000094.4(COL7A1):c.5132C>T (p.Thr1711Ile)
|
rs771521596
|
0.00004
|
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile)
|
rs188723332
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
|
rs781893704
|
0.00004
|
NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg)
|
rs199473136
|
0.00004
|
NM_000368.5(TSC1):c.110G>A (p.Arg37His)
|
rs750441497
|
0.00004
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
NM_000540.3(RYR1):c.14700C>T (p.Asp4900=)
|
rs759063883
|
0.00004
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00004
|
NM_000546.6(TP53):c.998G>A (p.Arg333His)
|
rs573154688
|
0.00004
|
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)
|
rs753907159
|
0.00004
|
NM_001003800.2(BICD2):c.1696C>T (p.Arg566Cys)
|
rs748022488
|
0.00004
|
NM_001042492.3(NF1):c.181A>G (p.Ile61Val)
|
rs754295034
|
0.00004
|
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)
|
rs743546
|
0.00004
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00004
|
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)
|
rs397517640
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001288705.3(CSF1R):c.924C>G (p.Asn308Lys)
|
rs747597752
|
0.00004
|
NM_001457.4(FLNB):c.3784G>A (p.Gly1262Arg)
|
rs139932035
|
0.00004
|
NM_001844.5(COL2A1):c.3064G>A (p.Val1022Met)
|
rs199642249
|
0.00004
|
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)
|
rs754034347
|
0.00004
|
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr)
|
rs753867828
|
0.00004
|
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
|
rs1283924469
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003482.4(KMT2D):c.6255C>A (p.Asn2085Lys)
|
rs200406127
|
0.00004
|
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr)
|
rs752428122
|
0.00004
|
NM_004086.3(COCH):c.971G>A (p.Arg324Gln)
|
rs748731866
|
0.00004
|
NM_004183.4(BEST1):c.1169T>C (p.Ile390Thr)
|
rs375618932
|
0.00004
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr)
|
rs370128808
|
0.00004
|
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val)
|
rs758386187
|
0.00004
|
NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys)
|
rs749846538
|
0.00004
|
NM_004836.7(EIF2AK3):c.35G>C (p.Arg12Pro)
|
rs756618692
|
0.00004
|
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys)
|
rs141501083
|
0.00004
|
NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=)
|
rs369522150
|
0.00004
|
NM_005993.5(TBCD):c.874C>G (p.Leu292Val)
|
rs375327000
|
0.00004
|
NM_006031.6(PCNT):c.5803G>C (p.Val1935Leu)
|
rs774248299
|
0.00004
|
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val)
|
rs368569999
|
0.00004
|
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)
|
rs201874067
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)
|
rs80357328
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
|
rs763295904
|
0.00004
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015100.4(POGZ):c.3997G>A (p.Asp1333Asn)
|
rs545762626
|
0.00004
|
NM_015178.3(RHOBTB2):c.1681G>A (p.Gly561Ser)
|
rs372306607
|
0.00004
|
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
|
rs751726519
|
0.00004
|
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp)
|
rs375781856
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_022436.3(ABCG5):c.915G>A (p.Thr305=)
|
rs773296588
|
0.00004
|
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg)
|
rs773938208
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)
|
rs186330724
|
0.00004
|
NM_030665.4(RAI1):c.3884C>T (p.Pro1295Leu)
|
rs376809177
|
0.00004
|
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile)
|
rs142646842
|
0.00004
|
NM_032119.4(ADGRV1):c.11071G>A (p.Ala3691Thr)
|
rs370941998
|
0.00004
|
NM_032119.4(ADGRV1):c.2474A>T (p.Asn825Ile)
|
rs374034519
|
0.00004
|
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro)
|
rs150982987
|
0.00004
|
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)
|
rs200428940
|
0.00004
|
NM_201384.3(PLEC):c.3784G>A (p.Gly1262Ser)
|
rs782158050
|
0.00004
|
NM_201384.3(PLEC):c.6427G>A (p.Glu2143Lys)
|
rs782305250
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
rs397507423
|
0.00003
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val)
|
rs574917232
|
0.00003
|
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile)
|
rs766898310
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000330.4(RS1):c.184+3194A>G
|
rs587783162
|
0.00003
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys)
|
rs140544652
|
0.00003
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)
|
rs370469515
|
0.00003
|
NM_000540.3(RYR1):c.3179-16C>T
|
rs982271145
|
0.00003
|
NM_000540.3(RYR1):c.800+7C>T
|
rs762118960
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
NM_000551.4(VHL):c.614G>A (p.Arg205His)
|
rs777130107
|
0.00003
|
NM_000834.5(GRIN2B):c.1125G>A (p.Arg375=)
|
rs200126922
|
0.00003
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser)
|
rs1041725339
|
0.00003
|
NM_001267550.2(TTN):c.60954G>A (p.Val20318=)
|
rs748022439
|
0.00003
|
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys)
|
rs764330098
|
0.00003
|
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)
|
rs201629827
|
0.00003
|
NM_001429.4(EP300):c.952C>G (p.Pro318Ala)
|
rs762647727
|
0.00003
|
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala)
|
rs147481678
|
0.00003
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
NM_002439.5(MSH3):c.237+7T>G
|
rs1405024198
|
0.00003
|
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)
|
rs369581570
|
0.00003
|
NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr)
|
rs775685559
|
0.00003
|
NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr)
|
rs557463209
|
0.00003
|
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)
|
rs374061873
|
0.00003
|
NM_002641.4(PIGA):c.1381C>T (p.Arg461Trp)
|
rs752798208
|
0.00003
|
NM_002880.4(RAF1):c.53A>G (p.Lys18Arg)
|
rs150944421
|
0.00003
|
NM_003001.5(SDHC):c.99G>A (p.Thr33=)
|
rs145535502
|
0.00003
|
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)
|
rs386134193
|
0.00003
|
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe)
|
rs774148221
|
0.00003
|
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln)
|
rs774403945
|
0.00003
|
NM_003482.4(KMT2D):c.9485G>A (p.Gly3162Asp)
|
rs773802581
|
0.00003
|
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser)
|
rs587781898
|
0.00003
|
NM_004958.4(MTOR):c.1855C>T (p.Arg619Cys)
|
rs199712134
|
0.00003
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_006231.4(POLE):c.6408C>T (p.Gly2136=)
|
rs1057524549
|
0.00003
|
NM_006514.4(SCN10A):c.3394A>C (p.Lys1132Gln)
|
rs756848600
|
0.00003
|
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)
|
rs577667739
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
NM_014244.5(ADAMTS2):c.3607C>T (p.Arg1203Trp)
|
rs144078893
|
0.00003
|
NM_015909.4(NBAS):c.937C>T (p.Arg313Cys)
|
rs571030699
|
0.00003
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
NM_020738.4(KIDINS220):c.1782T>G (p.Pro594=)
|
rs376216731
|
0.00003
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
NM_020975.6(RET):c.31C>A (p.Leu11Met)
|
rs587780812
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_030665.4(RAI1):c.386C>G (p.Pro129Arg)
|
rs748915017
|
0.00003
|
NM_030665.4(RAI1):c.4355G>A (p.Arg1452Gln)
|
rs368003493
|
0.00003
|
NM_030665.4(RAI1):c.73T>A (p.Ser25Thr)
|
rs891764320
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)
|
rs149439295
|
0.00003
|
NM_080680.3(COL11A2):c.3020C>T (p.Pro1007Leu)
|
rs771092817
|
0.00003
|
NM_138927.4(SON):c.5170A>G (p.Asn1724Asp)
|
rs372853725
|
0.00003
|
NM_177438.3(DICER1):c.1381A>G (p.Ile461Val)
|
rs141163928
|
0.00003
|
NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe)
|
rs752621588
|
0.00003
|
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln)
|
rs782618396
|
0.00003
|
NM_203447.4(DOCK8):c.1656A>G (p.Val552=)
|
rs150595667
|
0.00003
|
NM_000038.6(APC):c.5752A>G (p.Ile1918Val)
|
rs776966222
|
0.00002
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
0.00002
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
rs80358511
|
0.00002
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
rs397507350
|
0.00002
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)
|
rs543809032
|
0.00002
|
NM_000142.5(FGFR3):c.2418G>A (p.Thr806=)
|
rs779088139
|
0.00002
|
NM_000207.3(INS):c.202C>A (p.Leu68Met)
|
rs121908279
|
0.00002
|
NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu)
|
rs201367621
|
0.00002
|
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)
|
rs13306787
|
0.00002
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)
|
rs111367604
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)
|
rs748844266
|
0.00002
|
NM_000540.3(RYR1):c.14646+20C>G
|
rs371199096
|
0.00002
|
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr)
|
rs771629253
|
0.00002
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=)
|
rs920135778
|
0.00002
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
NM_001105206.3(LAMA4):c.3559G>A (p.Ala1187Thr)
|
rs781943786
|
0.00002
|
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)
|
rs373678395
|
0.00002
|
NM_001243133.2(NLRP3):c.2732A>G (p.Asn911Ser)
|
rs577683668
|
0.00002
|
NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala)
|
rs758920941
|
0.00002
|
NM_001267550.2(TTN):c.78508G>A (p.Gly26170Ser)
|
rs781248790
|
0.00002
|
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)
|
rs777035261
|
0.00002
|
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile)
|
rs780940263
|
0.00002
|
NM_001356.5(DDX3X):c.251T>G (p.Phe84Cys)
|
rs892274119
|
0.00002
|
NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp)
|
rs757431407
|
0.00002
|
NM_001376.5(DYNC1H1):c.7225G>A (p.Ala2409Thr)
|
rs566204008
|
0.00002
|
NM_001457.4(FLNB):c.1402C>T (p.Arg468Cys)
|
rs139664696
|
0.00002
|
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile)
|
rs200947960
|
0.00002
|
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser)
|
rs886626700
|
0.00002
|
NM_002303.6(LEPR):c.1018A>G (p.Ile340Val)
|
rs753573139
|
0.00002
|
NM_002437.5(MPV17):c.217T>A (p.Leu73Met)
|
rs766487119
|
0.00002
|
NM_003742.4(ABCB11):c.283G>A (p.Val95Ile)
|
rs201735739
|
0.00002
|
NM_003809.3(TNFSF12):c.674G>A (p.Arg225Gln)
|
rs576689580
|
0.00002
|
NM_004208.4(AIFM1):c.8G>A (p.Arg3Gln)
|
rs769299264
|
0.00002
|
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=)
|
rs751420248
|
0.00002
|
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala)
|
rs587782061
|
0.00002
|
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)
|
rs762638591
|
0.00002
|
NM_004525.3(LRP2):c.3573A>G (p.Gln1191=)
|
rs750430784
|
0.00002
|
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met)
|
rs774586838
|
0.00002
|
NM_005633.4(SOS1):c.3329C>T (p.Ser1110Leu)
|
rs572955351
|
0.00002
|
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr)
|
rs80357036
|
0.00002
|
NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile)
|
rs201549050
|
0.00002
|
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu)
|
rs779760001
|
0.00002
|
NM_017654.4(SAMD9):c.521G>A (p.Arg174His)
|
rs779289964
|
0.00002
|
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr)
|
rs774158046
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His)
|
rs776502547
|
0.00002
|
NM_030665.4(RAI1):c.2545G>A (p.Asp849Asn)
|
rs866732668
|
0.00002
|
NM_030665.4(RAI1):c.4625G>A (p.Arg1542Gln)
|
rs184604492
|
0.00002
|
NM_032383.5(HPS3):c.2625C>T (p.Ser875=)
|
rs200121725
|
0.00002
|
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr)
|
rs766360534
|
0.00002
|
NM_080680.3(COL11A2):c.4544C>T (p.Ser1515Leu)
|
rs764154647
|
0.00002
|
NM_177438.3(DICER1):c.4199A>G (p.Asp1400Gly)
|
rs139536688
|
0.00002
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
NM_000038.6(APC):c.7284A>G (p.Glu2428=)
|
rs876658194
|
0.00001
|
NM_000038.6(APC):c.764A>G (p.His255Arg)
|
rs530670052
|
0.00001
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
NM_000051.4(ATM):c.5319+3C>A
|
rs371640963
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)
|
rs754395517
|
0.00001
|
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)
|
rs781964005
|
0.00001
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
rs545974734
|
0.00001
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)
|
rs80358941
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu)
|
rs587782785
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)
|
rs28897760
|
0.00001
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)
|
rs567476314
|
0.00001
|
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)
|
rs79184941
|
0.00001
|
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)
|
rs747802641
|
0.00001
|
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)
|
rs369568820
|
0.00001
|
NM_000245.4(MET):c.3864C>T (p.Asn1288=)
|
rs768627036
|
0.00001
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00001
|
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His)
|
rs199741162
|
0.00001
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
NM_000321.3(RB1):c.539C>T (p.Ser180Leu)
|
rs367654488
|
0.00001
|
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His)
|
rs397517951
|
0.00001
|
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg)
|
rs757961130
|
0.00001
|
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)
|
rs574487898
|
0.00001
|
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln)
|
rs371908551
|
0.00001
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)
|
rs782556767
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000540.3(RYR1):c.10170C>T (p.Gly3390=)
|
rs369239179
|
0.00001
|
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)
|
rs193922849
|
0.00001
|
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)
|
rs567084532
|
0.00001
|
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)
|
rs756331568
|
0.00001
|
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)
|
rs786203298
|
0.00001
|
NM_000548.5(TSC2):c.2035G>A (p.Val679Met)
|
rs746315218
|
0.00001
|
NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)
|
rs1190158836
|
0.00001
|
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val)
|
rs781407050
|
0.00001
|
NM_000551.4(VHL):c.-12_2dup (p.Met1fs)
|
rs886041253
|
0.00001
|
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr)
|
rs876660103
|
0.00001
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001148.6(ANK2):c.10573G>A (p.Glu3525Lys)
|
rs781552524
|
0.00001
|
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr)
|
rs1219059740
|
0.00001
|
NM_001177701.3(IFT27):c.481G>A (p.Glu161Lys)
|
rs753938507
|
0.00001
|
NM_001195305.3(BBIP1):c.150G>A (p.Leu50=)
|
rs767511014
|
0.00001
|
NM_001197104.2(KMT2A):c.9176C>T (p.Pro3059Leu)
|
rs782800112
|
0.00001
|
NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr)
|
rs767279296
|
0.00001
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp)
|
rs774885355
|
0.00001
|
NM_001267550.2(TTN):c.89639T>G (p.Leu29880Arg)
|
rs781165041
|
0.00001
|
NM_001291303.3(FAT4):c.2057G>A (p.Ser686Asn)
|
rs374104309
|
0.00001
|
NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu)
|
rs1464985103
|
0.00001
|
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)
|
rs376901405
|
0.00001
|
NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys)
|
rs550726565
|
0.00001
|
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)
|
rs772407988
|
0.00001
|
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser)
|
rs1301322622
|
0.00001
|
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)
|
rs781554389
|
0.00001
|
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp)
|
rs370407502
|
0.00001
|
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)
|
rs1040168773
|
0.00001
|
NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg)
|
rs1351190778
|
0.00001
|
NM_002160.4(TNC):c.1477G>A (p.Gly493Arg)
|
rs542499079
|
0.00001
|
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg)
|
rs773960235
|
0.00001
|
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)
|
rs144707871
|
0.00001
|
NM_002880.4(RAF1):c.1687C>T (p.Arg563Ter)
|
rs532786413
|
0.00001
|
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His)
|
rs535351117
|
0.00001
|
NM_003482.4(KMT2D):c.3190G>A (p.Val1064Ile)
|
rs755939422
|
0.00001
|
NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu)
|
rs765863571
|
0.00001
|
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)
|
rs369865521
|
0.00001
|
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)
|
rs201693189
|
0.00001
|
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser)
|
rs570294713
|
0.00001
|
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)
|
rs587783512
|
0.00001
|
NM_004385.5(VCAN):c.5902C>G (p.Gln1968Glu)
|
rs775630677
|
0.00001
|
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala)
|
rs143822500
|
0.00001
|
NM_005249.5(FOXG1):c.382G>T (p.Gly128Cys)
|
rs1029176730
|
0.00001
|
NM_005996.4(TBX3):c.1271C>T (p.Ser424Phe)
|
rs1450439762
|
0.00001
|
NM_006231.4(POLE):c.391G>T (p.Val131Leu)
|
rs745601745
|
0.00001
|
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val)
|
rs199749372
|
0.00001
|
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)
|
rs80356964
|
0.00001
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
NM_013275.6(ANKRD11):c.3418G>A (p.Ala1140Thr)
|
rs369869329
|
0.00001
|
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser)
|
rs769153924
|
0.00001
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala)
|
rs780871066
|
0.00001
|
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)
|
rs1036089094
|
0.00001
|
NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu)
|
rs1011541536
|
0.00001
|
NM_015559.3(SETBP1):c.2741G>A (p.Arg914Gln)
|
rs777653524
|
0.00001
|
NM_015909.4(NBAS):c.5569A>G (p.Thr1857Ala)
|
rs758233969
|
0.00001
|
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)
|
rs764518030
|
0.00001
|
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile)
|
rs374602567
|
0.00001
|
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln)
|
rs542880173
|
0.00001
|
NM_017831.4(RNF125):c.122T>C (p.Leu41Pro)
|
rs979916916
|
0.00001
|
NM_018006.5(TRMU):c.369T>C (p.Ile123=)
|
rs546183296
|
0.00001
|
NM_021252.5(RAB18):c.501A>G (p.Glu167=)
|
rs1346169896
|
0.00001
|
NM_022552.5(DNMT3A):c.187G>A (p.Gly63Ser)
|
rs781108426
|
0.00001
|
NM_024334.3(TMEM43):c.893A>G (p.His298Arg)
|
rs1285837389
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met)
|
rs749976725
|
0.00001
|
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser)
|
rs752513342
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_030665.4(RAI1):c.1202C>T (p.Thr401Met)
|
rs200825036
|
0.00001
|
NM_030665.4(RAI1):c.1487C>T (p.Pro496Leu)
|
rs200903510
|
0.00001
|
NM_030665.4(RAI1):c.5170C>T (p.Arg1724Trp)
|
rs373198856
|
0.00001
|
NM_030665.4(RAI1):c.530C>T (p.Pro177Leu)
|
rs753632651
|
0.00001
|
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser)
|
rs876657823
|
0.00001
|
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala)
|
rs149600158
|
0.00001
|
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val)
|
rs761226343
|
0.00001
|
NM_080680.3(COL11A2):c.2425C>G (p.Pro809Ala)
|
rs1483323590
|
0.00001
|
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro)
|
rs769551176
|
0.00001
|
NM_194248.3(OTOF):c.4474G>A (p.Val1492Met)
|
rs368297003
|
0.00001
|
NM_198253.3(TERT):c.1692G>A (p.Thr564=)
|
rs377217777
|
0.00001
|
NR_003051.4(RMRP):n.86T>G
|
rs991322091
|
0.00001
|
NM_000030.3(AGXT):c.1065G>A (p.Thr355=)
|
rs143488099
|
|
NM_000030.3(AGXT):c.32C>A (p.Pro11His)
|
rs34116584
|
|
NM_000032.5(ALAS2):c.1695G>C (p.Glu565Asp)
|
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)
|
rs587782002
|
|
NM_000038.6(APC):c.841A>G (p.Thr281Ala)
|
rs769727966
|
|
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)
|
rs80358404
|
|
NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val)
|
rs80358489
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val)
|
rs587782720
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)
|
rs80358709
|
|
NM_000059.4(BRCA2):c.6871A>G (p.Asn2291Asp)
|
rs80358911
|
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)
|
rs80359174
|
|
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
|
|
|
NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val)
|
|
|
NM_000091.5(COL4A3):c.766-5G>A
|
rs751236477
|
|
NM_000092.5(COL4A4):c.2023A>G (p.Arg675Gly)
|
|
|
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)
|
|
|
NM_000092.5(COL4A4):c.289C>T (p.Arg97Cys)
|
|
|
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)
|
rs190148408
|
|
NM_000094.4(COL7A1):c.2903C>T (p.Ser968Leu)
|
|
|
NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)
|
|
|
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)
|
|
|
NM_000128.4(F11):c.595+11A>G
|
|
|
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)
|
rs199544087
|
|
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)
|
rs782722844
|
|
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.471C>T (p.Gly157=)
|
rs61756463
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu)
|
rs774196458
|
|
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)
|
rs148931779
|
|
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe)
|
rs747162992
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
|
|
NM_000384.3(APOB):c.9242G>A (p.Ser3081Asn)
|
rs72653100
|
|
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)
|
rs767150916
|
|
NM_000435.3(NOTCH3):c.5942G>A (p.Arg1981His)
|
|
|
NM_000439.5(PCSK1):c.413C>T (p.Thr138Met)
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)
|
rs754552080
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)
|
rs587780725
|
|
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)
|
rs760784102
|
|
NM_000540.3(RYR1):c.1211A>G (p.His404Arg)
|
rs561546643
|
|
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
|
rs796065337
|
|
NM_000540.3(RYR1):c.3216C>T (p.Arg1072=)
|
rs1968178599
|
|
NM_000540.3(RYR1):c.3527C>T (p.Thr1176Ile)
|
rs549201486
|
|
NM_000540.3(RYR1):c.447G>A (p.Met149Ile)
|
rs772652844
|
|
NM_000540.3(RYR1):c.5322G>A (p.Pro1774=)
|
rs572516017
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
NM_000540.3(RYR1):c.821G>A (p.Arg274His)
|
rs368711923
|
|
NM_000540.3(RYR1):c.9001-15C>A
|
rs372702492
|
|
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)
|
rs72661119
|
|
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu)
|
rs1053311636
|
|
NM_000551.4(VHL):c.-61_-51dup
|
rs727503743
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000718.4(CACNA1B):c.5945G>A (p.Arg1982Gln)
|
|
|
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=)
|
rs1297869395
|
|
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)
|
rs35873579
|
|
NM_000807.4(GABRA2):c.1214C>T (p.Ala405Val)
|
|
|
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)
|
rs8192606
|
|
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu)
|
rs551162125
|
|
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly)
|
rs149210297
|
|
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro)
|
rs757055929
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
NM_001039591.3(USP9X):c.2415A>G (p.Gln805=)
|
|
|
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln)
|
rs755003900
|
|
NM_001041.4(SI):c.65T>C (p.Ile22Thr)
|
|
|
NM_001042681.2(RERE):c.3588_3593del (p.1192RE[4])
|
|
|
NM_001077653.2(TBX20):c.549C>G (p.Leu183=)
|
rs1463237905
|
|
NM_001079872.2(CUL4B):c.360CTC[7] (p.Ser128dup)
|
rs754330779
|
|
NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)
|
|
|
NM_001080453.3(INTS1):c.230G>A (p.Arg77His)
|
|
|
NM_001080517.3(SETD5):c.2406G>T (p.Glu802Asp)
|
|
|
NM_001085049.3(MRAS):c.552GAA[4] (p.Lys189del)
|
rs752298978
|
|
NM_001105206.3(LAMA4):c.3166G>A (p.Gly1056Ser)
|
rs145321940
|
|
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys)
|
rs141382970
|
|
NM_001110792.2(MECP2):c.785G>A (p.Arg262His)
|
rs61750227
|
|
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del)
|
rs759331923
|
|
NM_001128431.4(SLC39A14):c.24G>T (p.Pro8=)
|
rs112568651
|
|
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu)
|
rs1554843535
|
|
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
|
|
|
NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser)
|
rs55726422
|
|
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)
|
rs556640912
|
|
NM_001148.6(ANK2):c.7084A>G (p.Lys2362Glu)
|
|
|
NM_001148.6(ANK2):c.7706_7707inv (p.Ala2569Val)
|
|
|
NM_001148.6(ANK2):c.9590A>G (p.Asp3197Gly)
|
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met)
|
rs1277282343
|
|
NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)
|
|
|
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup)
|
rs746953076
|
|
NM_001205293.3(CACNA1E):c.3337AAG[2] (p.Lys1115del)
|
|
|
NM_001212.4(C1QBP):c.241G>A (p.Ala81Thr)
|
|
|
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)
|
rs200288250
|
|
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)
|
rs555476312
|
|
NM_001267550.2(TTN):c.29448AGA[2] (p.Glu9820del)
|
rs377232641
|
|
NM_001267550.2(TTN):c.55303-1G>A
|
rs748369265
|
|
NM_001267550.2(TTN):c.55738C>T (p.Pro18580Ser)
|
rs528329600
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001277313.2(FMN1):c.9C>T (p.Gly3=)
|
|
|
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
|
|
|
NM_001286577.2(C2CD3):c.1594C>G (p.Leu532Val)
|
|
|
NM_001288705.3(CSF1R):c.2257C>T (p.Arg753Trp)
|
|
|
NM_001291303.3(FAT4):c.2214C>A (p.Val738=)
|
|
|
NM_001308093.3(GATA4):c.333G>A (p.Pro111=)
|
rs1331416104
|
|
NM_001354604.2(MITF):c.505A>G (p.Met169Val)
|
rs143224466
|
|
NM_001367624.2(ZNF469):c.4998G>A (p.Pro1666=)
|
|
|
NM_001371928.1(AHDC1):c.3052G>A (p.Ala1018Thr)
|
|
|
NM_001372.4(DNAH9):c.6402G>A (p.Val2134=)
|
|
|
NM_001374385.1(ATP8B1):c.3108C>T (p.Ser1036=)
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[11] (p.Gly402_Ser403insGlyGlyGly)
|
|
|
NM_001374828.1(ARID1B):c.1631_1636dup (p.Ala545_Ala546insGlyAla)
|
|
|
NM_001374828.1(ARID1B):c.679_690del (p.Gly227_Ala230del)
|
|
|
NM_001375524.1(TRRAP):c.531A>G (p.Gln177=)
|
|
|
NM_001377229.1(DISP1):c.4557_4559del (p.Leu1520del)
|
rs753844157
|
|
NM_001377265.1(MAPT):c.1732+2365C>A
|
|
|
NM_001378183.1(PIEZO2):c.1883-8A>T
|
|
|
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup)
|
rs760731440
|
|
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup)
|
rs55889738
|
|
NM_001378457.1(DMXL2):c.1787C>G (p.Ser596Cys)
|
rs143850714
|
|
NM_001379500.1(COL18A1):c.2958_2966del (p.985GPP[3])
|
|
|
NM_001384140.1(PCDH15):c.465A>G (p.Thr155=)
|
rs559193058
|
|
NM_001384732.1(CPLANE1):c.2078A>G (p.Lys693Arg)
|
|
|
NM_001384900.1(SEMA3D):c.2027T>C (p.Ile676Thr)
|
|
|
NM_001385012.1(NBEA):c.99_122del (p.Gly34_Gly41del)
|
|
|
NM_001386298.1(CIC):c.4279C>T (p.Pro1427Ser)
|
|
|
NM_001394062.1(MACF1):c.2153C>A (p.Ser718Tyr)
|
|
|
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1])
|
rs758586599
|
|
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile)
|
rs200902568
|
|
NM_001457.4(FLNB):c.4172_4173inv (p.Ala1391Val)
|
|
|
NM_001844.5(COL2A1):c.262A>G (p.Ile88Val)
|
rs760745824
|
|
NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala)
|
rs139720910
|
|
NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu)
|
rs377079894
|
|
NM_001846.4(COL4A2):c.1623C>T (p.Pro541=)
|
|
|
NM_001846.4(COL4A2):c.2351G>A (p.Arg784Gln)
|
|
|
NM_001846.4(COL4A2):c.4450C>T (p.Arg1484Cys)
|
|
|
NM_001846.4(COL4A2):c.4754C>G (p.Pro1585Arg)
|
|
|
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)
|
rs202153520
|
|
NM_001853.4(COL9A3):c.701G>C (p.Arg234Pro)
|
rs150885737
|
|
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
|
rs184606223
|
|
NM_001904.4(CTNNB1):c.583G>C (p.Val195Leu)
|
rs147382769
|
|
NM_002303.6(LEPR):c.1298A>G (p.Asn433Ser)
|
|
|
NM_002303.6(LEPR):c.575A>C (p.Glu192Ala)
|
|
|
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)
|
rs878854502
|
|
NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp)
|
|
|
NM_002473.6(MYH9):c.3838G>A (p.Val1280Met)
|
rs141582478
|
|
NM_002473.6(MYH9):c.5711C>T (p.Thr1904Ile)
|
|
|
NM_002473.6(MYH9):c.5788G>A (p.Val1930Met)
|
rs142565774
|
|
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)
|
rs755547393
|
|
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)
|
rs41550117
|
|
NM_002738.7(PRKCB):c.995G>C (p.Gly332Ala)
|
|
|
NM_002875.5(RAD51):c.671C>G (p.Ala224Gly)
|
|
|
NM_002972.4(SBF1):c.3689-9C>A
|
|
|
NM_003052.5(SLC34A1):c.936+1307G>A
|
|
|
NM_003482.4(KMT2D):c.11819_11836dup (p.Leu3940_Gln3945dup)
|
rs1160407199
|
|
NM_003482.4(KMT2D):c.4723A>C (p.Met1575Leu)
|
rs762474552
|
|
NM_003482.4(KMT2D):c.8107_8109del (p.Glu2703del)
|
rs771294848
|
|
NM_003489.4(NRIP1):c.453A>G (p.Gln151=)
|
|
|
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp)
|
rs141901540
|
|
NM_003742.4(ABCB11):c.1441G>A (p.Val481Met)
|
|
|
NM_003872.3(NRP2):c.2425+9707G>A
|
|
|
NM_003922.4(HERC1):c.9273A>G (p.Glu3091=)
|
|
|
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn)
|
rs104895418
|
|
NM_004036.5(ADCY3):c.2196G>A (p.Thr732=)
|
|
|
NM_004186.5(SEMA3F):c.10G>A (p.Ala4Thr)
|
|
|
NM_004360.5(CDH1):c.408A>G (p.Gln136=)
|
rs1060501229
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
NM_004380.3(CREBBP):c.3232T>C (p.Ser1078Pro)
|
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|
NM_004606.5(TAF1):c.2945C>T (p.Pro982Leu)
|
|
|
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del)
|
rs11466445
|
|
NM_004646.4(NPHS1):c.796G>A (p.Val266Met)
|
|
|
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup)
|
rs570443161
|
|
NM_004714.3(DYRK1B):c.668C>T (p.Thr223Met)
|
|
|
NM_004960.3(FUS):c.515_523+3del
|
|
|
NM_004960.4(FUS):c.684_692del (p.Gly229_Gly231del)
|
rs778398729
|
|
NM_004985.5(KRAS):c.451-5604T>C
|
rs397517476
|
|
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)
|
rs769857818
|
|
NM_005157.6(ABL1):c.3067G>A (p.Ala1023Thr)
|
|
|
NM_005245.4(FAT1):c.675G>A (p.Ala225=)
|
|
|
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)
|
rs35428353
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005560.6(LAMA5):c.10744C>T (p.Arg3582Trp)
|
|
|
NM_005560.6(LAMA5):c.2659C>T (p.His887Tyr)
|
|
|
NM_005560.6(LAMA5):c.6476G>C (p.Gly2159Ala)
|
|
|
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)
|
rs148637964
|
|
NM_005634.3(SOX3):c.732delinsCGCC (p.Ala248dup)
|
rs794726924
|
|
NM_006015.6(ARID1A):c.1883T>C (p.Met628Thr)
|
|
|
NM_006015.6(ARID1A):c.2109C>A (p.Pro703=)
|
|
|
NM_006015.6(ARID1A):c.6652A>T (p.Met2218Leu)
|
|
|
NM_006031.6(PCNT):c.4003+10A>G
|
|
|
NM_006031.6(PCNT):c.428G>A (p.Arg143His)
|
rs58106867
|
|
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu)
|
rs776640595
|
|
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu)
|
rs368565898
|
|
NM_006031.6(PCNT):c.720+10C>T
|
|
|
NM_006180.6(NTRK2):c.1937+8G>A
|
|
|
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His)
|
rs144099489
|
|
NM_006231.4(POLE):c.-6G>A
|
rs534524789
|
|
NM_006231.4(POLE):c.1257G>A (p.Val419=)
|
rs1565973352
|
|
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala)
|
rs5744800
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006734.4(HIVEP2):c.3119C>A (p.Pro1040Gln)
|
|
|
NM_006734.4(HIVEP2):c.4861G>A (p.Asp1621Asn)
|
|
|
NM_006734.4(HIVEP2):c.6601C>T (p.Leu2201Phe)
|
|
|
NM_006766.5(KAT6A):c.2914C>T (p.Arg972Cys)
|
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)
|
rs28897681
|
|
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val)
|
rs397509121
|
|
NM_007317.3(KIF22):c.1137G>C (p.Gln379His)
|
|
|
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
|
|
|
NM_014423.4(AFF4):c.2207C>T (p.Pro736Leu)
|
|
|
NM_014423.4(AFF4):c.529C>T (p.Arg177Cys)
|
|
|
NM_014727.3(KMT2B):c.6332C>T (p.Ser2111Leu)
|
|
|
NM_014727.3(KMT2B):c.6518G>A (p.Arg2173Gln)
|
|
|
NM_014795.4(ZEB2):c.2752C>T (p.Pro918Ser)
|
rs1560605894
|
|
NM_014915.3(ANKRD26):c.4564A>G (p.Met1522Val)
|
|
|
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
|
rs746896173
|
|
NM_015231.3(NUP160):c.740C>T (p.Pro247Leu)
|
|
|
NM_015559.3(SETBP1):c.557A>G (p.Gln186Arg)
|
rs751069486
|
|
NM_015570.4(AUTS2):c.1858C>T (p.Arg620Trp)
|
|
|
NM_015909.4(NBAS):c.6712-10G>A
|
|
|
NM_015978.3(TNNI3K):c.2476C>G (p.Arg826Gly)
|
rs201614312
|
|
NM_016203.4(PRKAG2):c.714G>A (p.Ala238=)
|
|
|
NM_016239.4(MYO15A):c.10192C>T (p.His3398Tyr)
|
|
|
NM_016341.4(PLCE1):c.5115G>A (p.Pro1705=)
|
|
|
NM_016525.5(UBAP1):c.505C>A (p.Leu169Met)
|
|
|
NM_016604.4(KDM3B):c.1720G>A (p.Val574Ile)
|
|
|
NM_017514.5(PLXNA3):c.370C>T (p.Arg124Cys)
|
|
|
NM_017613.4(DONSON):c.786-7T>C
|
|
|
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=)
|
rs1251609154
|
|
NM_017633.3(TENT5A):c.335G>T (p.Arg112Leu)
|
rs144803443
|
|
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)
|
rs375515095
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu)
|
rs2150810874
|
|
NM_017934.7(PHIP):c.2845A>G (p.Thr949Ala)
|
|
|
NM_017934.7(PHIP):c.2935C>T (p.Arg979Trp)
|
|
|
NM_017934.7(PHIP):c.4135A>G (p.Met1379Val)
|
|
|
NM_018249.6(CDK5RAP2):c.5452-8C>T
|
|
|
NM_018489.3(ASH1L):c.4279A>G (p.Met1427Val)
|
|
|
NM_018896.5(CACNA1G):c.3265G>A (p.Ala1089Thr)
|
|
|
NM_018896.5(CACNA1G):c.4682G>A (p.Arg1561Gln)
|
|
|
NM_019066.5(MAGEL2):c.1344_1385del (p.442PVIRQAP[1])
|
|
|
NM_019066.5(MAGEL2):c.1922C>G (p.Pro641Arg)
|
rs556296973
|
|
NM_019066.5(MAGEL2):c.2641C>T (p.Arg881Cys)
|
|
|
NM_019066.5(MAGEL2):c.979G>A (p.Ala327Thr)
|
|
|
NM_020738.4(KIDINS220):c.1557G>A (p.Thr519=)
|
|
|
NM_020738.4(KIDINS220):c.5106G>A (p.Met1702Ile)
|
|
|
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)
|
rs754629346
|
|
NM_022773.4(LMF1):c.1620C>T (p.Ile540=)
|
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
NM_025074.7(FRAS1):c.11274C>A (p.His3758Gln)
|
|
|
NM_025074.7(FRAS1):c.6009C>T (p.His2003=)
|
|
|
NM_025074.7(FRAS1):c.8283C>T (p.Ser2761=)
|
|
|
NM_025103.4(IFT74):c.173G>A (p.Gly58Asp)
|
|
|
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)
|
rs773578133
|
|
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg)
|
rs368064728
|
|
NM_030665.4(RAI1):c.1054C>T (p.Arg352Cys)
|
rs907728820
|
|
NM_030665.4(RAI1):c.1606C>T (p.Arg536Cys)
|
rs149164900
|
|
NM_030665.4(RAI1):c.2289C>T (p.Gly763=)
|
|
|
NM_030665.4(RAI1):c.2404_2406del (p.Lys802del)
|
rs779691871
|
|
NM_030665.4(RAI1):c.3724C>T (p.Arg1242Trp)
|
|
|
NM_030665.4(RAI1):c.3725G>A (p.Arg1242Gln)
|
|
|
NM_030665.4(RAI1):c.3731GCA[5] (p.Ser1249del)
|
|
|
NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup)
|
rs760919336
|
|
NM_030665.4(RAI1):c.834GCA[20] (p.Gln285_Gln291dup)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[5] (p.Gln284_Gln291del)
|
rs371983878
|
|
NM_030665.4(RAI1):c.986G>A (p.Arg329Gln)
|
|
|
NM_030957.4(ADAMTS10):c.1890G>A (p.Thr630=)
|
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032242.4(PLXNA1):c.1556C>T (p.Thr519Met)
|
|
|
NM_032242.4(PLXNA1):c.258G>A (p.Thr86=)
|
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
NM_138295.5(PKD1L1):c.603G>A (p.Ala201=)
|
|
|
NM_138576.4(BCL11B):c.1032C>G (p.Ala344=)
|
rs1011254015
|
|
NM_138711.6(PPARG):c.43A>T (p.Ile15Phe)
|
|
|
NM_138927.4(SON):c.2098T>C (p.Ser700Pro)
|
|
|
NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His)
|
|
|
NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)
|
|
|
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del)
|
rs398124508
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup)
|
rs387906492
|
|
NM_144997.7(FLCN):c.871+22C>T
|
|
|
NM_152424.4(AMER1):c.205C>A (p.Leu69Met)
|
|
|
NM_170606.3(KMT2C):c.11225G>C (p.Ser3742Thr)
|
|
|
NM_170606.3(KMT2C):c.12151A>G (p.Arg4051Gly)
|
|
|
NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg)
|
|
|
NM_172362.3(KCNH1):c.2500C>T (p.Arg834Cys)
|
rs1363207852
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
NM_175875.5(SIX5):c.246G>A (p.Thr82=)
|
|
|
NM_177972.3(TUB):c.367G>A (p.Ala123Thr)
|
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NM_182919.4(TICAM1):c.11_12inv (p.Thr4Met)
|
|
|
NM_182931.3(KMT2E):c.5555dup (p.Tyr1852Ter)
|
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_183357.3(ADCY5):c.2272GAC[1] (p.Asp759del)
|
rs780518999
|
|
NM_198075.4(LRRC56):c.591G>A (p.Val197=)
|
|
|
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)
|
rs372858877
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|