ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from PreventionGenetics, part of Exact Sciences and "likely benign" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1461
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HGVS dbSNP gnomAD frequency
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

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