ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Revvity Omics, Revvity and "likely benign" from any submitter

Minimum review status of the submission from Revvity Omics, Revvity: Collection method of the submission from Revvity Omics, Revvity:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3367
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HGVS dbSNP gnomAD frequency
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg) rs782650611 0.11673
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00426
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00393
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00388
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro) rs558084375 0.00366
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00315
NM_014270.5(SLC7A9):c.978-17G>A rs45628833 0.00315
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00304
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00261
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281 0.00247
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00247
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00235
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00222
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00220
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn) rs72650671 0.00211
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00198
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr) rs147341899 0.00192
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_020751.3(COG6):c.320A>T (p.Asp107Val) rs146229425 0.00183
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp) rs139071351 0.00180
NM_001684.5(ATP2B4):c.2819A>G (p.Lys940Arg) rs138580420 0.00179
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00174
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met) rs142438011 0.00168
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val) rs150644209 0.00164
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_018238.4(AGK):c.29A>G (p.Asn10Ser) rs35269563 0.00161
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 0.00161
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00159
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00154
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) rs61753094 0.00152
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667 0.00151
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00147
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00145
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00140
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00139
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn) rs140556652 0.00139
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667 0.00137
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) rs556192193 0.00137
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00135
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_005883.3(APC2):c.4958G>A (p.Arg1653Gln) rs555371409 0.00134
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00133
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00133
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_006379.5(SEMA3C):c.688C>T (p.Pro230Ser) rs138522639 0.00128
NM_001376571.1(MADD):c.3481G>A (p.Ala1161Thr) rs61755074 0.00127
NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr) rs146847253 0.00127
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00126
NM_000036.3(AMPD1):c.381+1G>C rs143303736 0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala) rs767318857 0.00124
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) rs145183203 0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser) rs181166140 0.00121
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys) rs200611311 0.00121
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00120
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00120
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709 0.00119
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) rs138630815 0.00116
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00116
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00115
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645 0.00115
NM_000163.5(GHR):c.239G>T (p.Gly80Val) rs114025919 0.00111
NM_000324.3(RHAG):c.199T>C (p.Phe67Leu) rs116356543 0.00110
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00110
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp) rs185397176 0.00109
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001164508.2(NEB):c.10269G>A (p.Pro3423=) rs368719373 0.00108
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys) rs76326086 0.00108
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys) rs114875539 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00107
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00107
NM_207037.2(TCF12):c.1465A>G (p.Met489Val) rs149621019 0.00107
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys) rs142089943 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00104
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met) rs139792723 0.00104
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00104
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00103
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val) rs143443167 0.00103
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334 0.00103
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00102
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys) rs149165620 0.00101
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) rs144829001 0.00101
NM_005529.7(HSPG2):c.745G>A (p.Val249Met) rs148066529 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00100
NM_017613.4(DONSON):c.1411G>A (p.Glu471Lys) rs140592434 0.00100
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00099
NM_000789.4(ACE):c.1979C>G (p.Ser660Cys) rs147429960 0.00098
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 0.00098
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00097
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys) rs199843296 0.00097
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser) rs138796052 0.00096
NM_016653.3(MAP3K20):c.1640A>T (p.Gln547Leu) rs188158548 0.00096
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00096
NM_173689.7(CRB2):c.737G>A (p.Arg246His) rs150339335 0.00096
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg) rs5041 0.00095
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00095
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00095
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu) rs148175483 0.00094
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) rs142582318 0.00093
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_001348323.3(TRIP12):c.1922C>T (p.Thr641Met) rs142882915 0.00092
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) rs143779235 0.00092
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00092
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met) rs370663645 0.00091
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr) rs151176879 0.00091
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys) rs143333246 0.00090
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00090
NM_001376571.1(MADD):c.774A>G (p.Pro258=) rs74698331 0.00090
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160 0.00089
NM_201384.3(PLEC):c.3434C>T (p.Thr1145Met) rs200672373 0.00089
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) rs187648086 0.00089
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg) rs144496753 0.00088
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00088
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr) rs201523118 0.00088
NM_000426.4(LAMA2):c.6708-3A>C rs112637707 0.00087
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00086
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr) rs145209035 0.00086
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00085
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00085
NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met) rs148946391 0.00085
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00085
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=) rs141328606 0.00084
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=) rs111558823 0.00084
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00084
NM_000733.4(CD3E):c.470C>T (p.Ala157Val) rs140639753 0.00083
NM_002334.4(LRP4):c.257G>A (p.Arg86His) rs138239756 0.00083
NM_006502.3(POLH):c.698A>G (p.Asn233Ser) rs61756403 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00082
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) rs184563685 0.00081
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) rs144937332 0.00081
NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly) rs144391535 0.00081
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val) rs149963176 0.00081
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val) rs142983846 0.00080
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00080
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys) rs200367429 0.00080
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00079
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00079
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile) rs139964603 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626 0.00077
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674 0.00077
NM_024678.6(NARS2):c.1042C>T (p.Arg348Trp) rs149061222 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00076
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr) rs138156449 0.00076
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00076
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00076
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu) rs145099391 0.00076
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00076
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304 0.00076
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539 0.00076
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390 0.00074
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn) rs200893443 0.00074
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00074
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00074
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00074
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg) rs61731735 0.00074
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
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_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00073
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu) rs202059499 0.00073
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys) rs868906137 0.00073
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772 0.00072
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547 0.00072
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00072
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00071
NM_000369.5(TSHR):c.1783G>A (p.Val595Ile) rs142632518 0.00071
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632 0.00071
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015 0.00070
NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe) rs150856064 0.00070
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00070
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp) rs142169651 0.00070
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly) rs148745414 0.00069
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00068
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) rs140562402 0.00068
NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln) rs35102652 0.00068
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00068
NM_005245.4(FAT1):c.7957G>A (p.Gly2653Ser) rs200149452 0.00068
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_031372.4(HNRNPDL):c.113T>C (p.Leu38Pro) rs373042980 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727 0.00068
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=) rs140658201 0.00067
NM_001378183.1(PIEZO2):c.4537C>G (p.Gln1513Glu) rs115526553 0.00067
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=) rs148105529 0.00067
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00067
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00066
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu) rs144207910 0.00066
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005529.7(HSPG2):c.6295G>A (p.Gly2099Ser) rs113695182 0.00066
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=) rs375568532 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp) rs77994592 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu) rs142525507 0.00064
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_002206.3(ITGA7):c.340A>G (p.Met114Val) rs146565340 0.00063
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605 0.00063
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876 0.00063
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser) rs147745609 0.00063
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00062
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) rs143614333 0.00062
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00062
NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro) rs911762606 0.00062
NM_213599.3(ANO5):c.294G>A (p.Ala98=) rs142858990 0.00062
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly) rs144533405 0.00061
NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly) rs149165006 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_005883.3(APC2):c.4557G>A (p.Pro1519=) rs111280997 0.00061
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00061
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369 0.00060
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys) rs761500193 0.00060
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala) rs199784966 0.00060
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn) rs150721350 0.00060
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00060
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669 0.00060
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr) rs34103564 0.00059
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00058
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000651.6(CR1):c.5652G>A (p.Met1884Ile) rs140566582 0.00058
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001142864.4(PIEZO1):c.4766C>T (p.Thr1589Ile) rs534283978 0.00058
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00058
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) rs140564189 0.00057
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=) rs113058779 0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001355436.2(SPTB):c.2431G>A (p.Glu811Lys) rs140584449 0.00057
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His) rs141992300 0.00057
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) rs141242566 0.00057
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00057
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00057
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val) rs149481974 0.00056
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808 0.00056
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_005373.3(MPL):c.1488C>T (p.Thr496=) rs140091584 0.00056
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu) rs201693932 0.00056
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 0.00056
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr) rs115877658 0.00056
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00056
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys) rs35762515 0.00056
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00055
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00055
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00055
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 0.00055
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_001164508.2(NEB):c.14266C>A (p.Gln4756Lys) rs755875238 0.00054
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00054
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr) rs200121902 0.00054
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00054
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser) rs151081625 0.00054
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_007215.4(POLG2):c.466A>G (p.Ile156Val) rs137901677 0.00054
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu) rs139690983 0.00054
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00054
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00054
NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn) rs200540800 0.00054
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00054
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met) rs369319123 0.00053
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00053
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser) rs139244736 0.00052
NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala) rs147013623 0.00052
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr) rs201657125 0.00052
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu) rs139069946 0.00051
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu) rs192788942 0.00051
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00051
NM_005529.7(HSPG2):c.5705G>A (p.Gly1902Asp) rs553885469 0.00051
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822 0.00051
NM_201384.3(PLEC):c.8763G>A (p.Thr2921=) rs377001239 0.00051
NM_001110792.2(MECP2):c.*1368C>A rs267608355 0.00050
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00050
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly) rs150801397 0.00050
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00050
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu) rs140733978 0.00050
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=) rs144122107 0.00050
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00050
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00049
NM_001142864.4(PIEZO1):c.6165-7G>A rs141011459 0.00049
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=) rs373958891 0.00049
NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn) rs139159258 0.00048
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn) rs202209156 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00048
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 0.00048
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00048
NM_012210.4(TRIM32):c.*1G>A rs142781513 0.00048
NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn) rs376679880 0.00048
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=) rs140527143 0.00048
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro) rs199543859 0.00048
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00048
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_001077525.3(MTMR14):c.1151G>A (p.Ser384Asn) rs115607360 0.00047
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00047
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln) rs184153985 0.00047
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His) rs142678284 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln) rs139576982 0.00047
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00046
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu) rs768517440 0.00046
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00046
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser) rs111947578 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842 0.00046
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=) rs185082202 0.00046
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn) rs371763907 0.00046
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp) rs200488874 0.00045
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00045
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu) rs139504522 0.00045
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) rs144094650 0.00045
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val) rs372419267 0.00045
NM_001940.4(ATN1):c.824C>T (p.Pro275Leu) rs201165264 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly) rs56089364 0.00044
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser) rs139070796 0.00044
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00044
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00044
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) rs201955081 0.00044
NM_017534.6(MYH2):c.1898-3C>T rs370752980 0.00044
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00044
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg) rs145075161 0.00044
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg) rs146668256 0.00044
NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn) rs199833127 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00043
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg) rs114009747 0.00043
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00043
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386 0.00043
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277 0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) rs143884041 0.00043
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) rs200176373 0.00043
NM_201384.3(PLEC):c.1545C>T (p.Pro515=) rs199968254 0.00043
NM_000081.4(LYST):c.692A>G (p.Gln231Arg) rs147433918 0.00042
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln) rs146793133 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly) rs72646822 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val) rs375935118 0.00042
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00041
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165 0.00041
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val) rs201482015 0.00041
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu) rs202096200 0.00041
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00041
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 0.00041
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571 0.00041
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00041
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) rs200541837 0.00041
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) rs200361523 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00040
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00040
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) rs375491094 0.00040
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His) rs142541718 0.00040
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00040
NM_016213.5(TRIP4):c.1165C>T (p.Pro389Ser) rs144077712 0.00040
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln) rs114545628 0.00040
NM_032228.6(FAR1):c.1077C>G (p.Ala359=) rs146816221 0.00040
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00038
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00038
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570 0.00038
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met) rs191786700 0.00038
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00038
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met) rs140491601 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00038
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00038
NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met) rs201455697 0.00038
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00038
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270 0.00037
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) rs199761901 0.00037
NM_003126.4(SPTA1):c.1351-4A>G rs200868774 0.00037
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln) rs140373332 0.00037
NM_000384.3(APOB):c.3382C>T (p.Arg1128Cys) rs72653076 0.00036
NM_000426.4(LAMA2):c.8977A>G (p.Ile2993Val) rs145331792 0.00036
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00036
NM_004614.5(TK2):c.80C>T (p.Ser27Leu) rs191573607 0.00036
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys) rs75262191 0.00036
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln) rs146229269 0.00036
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) rs142858149 0.00036
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00035
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly) rs148631577 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) rs376800688 0.00035
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro) rs146817002 0.00035
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00035
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln) rs782590380 0.00035
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000178.4(GSS):c.631C>G (p.Gln211Glu) rs370351723 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 0.00034
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu) rs373065549 0.00034
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp) rs201793958 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062 0.00034
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) rs376616067 0.00034
NM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met) rs200788902 0.00034
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590 0.00034
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu) rs143565222 0.00034
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551 0.00034
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00034
NM_000271.5(NPC1):c.1937G>A (p.Arg646His) rs112387560 0.00033
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00033
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00033
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00033
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00032
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His) rs368915047 0.00032
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala) rs147476634 0.00032
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275 0.00032
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_001849.4(COL6A2):c.*4C>T rs370155138 0.00032
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00032
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) rs200697103 0.00032
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) rs143041875 0.00032
NM_018993.4(RIN2):c.41G>A (p.Arg14Gln) rs367797077 0.00032
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) rs547049916 0.00032
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063 0.00032
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val) rs398123401 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00031
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys) rs369933152 0.00031
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp) rs375944265 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His) rs141817409 0.00031
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu) rs200415625 0.00031
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00031
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) rs200890386 0.00031
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys) rs138847501 0.00031
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser) rs150385364 0.00031
NM_020928.2(ZSWIM6):c.82A>G (p.Ser28Gly) rs1456197449 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00031
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539 0.00030
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr) rs180828370 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) rs374147064 0.00030
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met) rs141973081 0.00030
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136 0.00030
NM_003742.4(ABCB11):c.2620T>C (p.Ser874Pro) rs184334834 0.00030
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00030
NM_007118.4(TRIO):c.5671T>C (p.Ser1891Pro) rs138840811 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) rs143328343 0.00029
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000301.5(PLG):c.2302G>A (p.Glu768Lys) rs199619244 0.00029
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000540.3(RYR1):c.79G>A (p.Val27Met) rs143481004 0.00029
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00029
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser) rs377226540 0.00029
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr) rs529839486 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu) rs118056738 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=) rs141435008 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val) rs367715805 0.00029
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00028
NM_014208.3(DSPP):c.368G>C (p.Gly123Ala) rs199683760 0.00028
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln) rs146922115 0.00028
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00028
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His) rs200471470 0.00028
NM_182961.4(SYNE1):c.24642+3A>G rs117346210 0.00028
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00028
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 0.00027
NM_001079866.2(BCS1L):c.64C>T (p.Leu22=) rs777854606 0.00027
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) rs191699632 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00027
NM_001684.5(ATP2B4):c.1996G>A (p.Ala666Thr) rs138521935 0.00027
NM_004369.4(COL6A3):c.7029+10C>T rs376525317 0.00027
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=) rs536882233 0.00027
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00027
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His) rs201387815 0.00027
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) rs55948916 0.00026
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) rs374476196 0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=) rs375621334 0.00026
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn) rs749423866 0.00026
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val) rs368146879 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_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser) rs370809363 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser) rs191263181 0.00026
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser) rs183939928 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser) rs185746835 0.00026
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00026
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00026
NM_022464.5(SIL1):c.430A>G (p.Met144Val) rs199707852 0.00026
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met) rs570708095 0.00026
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met) rs191036710 0.00026
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp) rs202241157 0.00026
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_000342.4(SLC4A1):c.1742C>A (p.Thr581Asn) rs142161945 0.00025
NM_000540.3(RYR1):c.5459G>T (p.Arg1820Leu) rs750141316 0.00025
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00025
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=) rs368984050 0.00025
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) rs2303830 0.00025
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00025
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) rs143293179 0.00025
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237 0.00025
NM_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802 0.00025
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00025
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=) rs201868142 0.00025
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser) rs149626892 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) rs782439290 0.00025
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp) rs782312793 0.00025
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln) rs373617951 0.00025
NM_201384.3(PLEC):c.7339C>T (p.Arg2447Cys) rs781936848 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln) rs199752361 0.00024
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) rs564395221 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) rs377042940 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00024
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650 0.00024
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00024
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp) rs151193056 0.00024
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) rs202187398 0.00024
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile) rs373593599 0.00024
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys) rs113017484 0.00024
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_005529.7(HSPG2):c.11853A>G (p.Leu3951=) rs138957986 0.00024
NM_005529.7(HSPG2):c.8025+20C>T rs146363738 0.00024
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val) rs542940704 0.00024
NM_020549.5(CHAT):c.858C>T (p.Thr286=) rs200423662 0.00024
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486 0.00024
NM_201384.3(PLEC):c.5149C>T (p.Arg1717Trp) rs192022872 0.00024
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00023
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala) rs149362848 0.00023
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00023
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys) rs151009169 0.00023
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00023
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00023
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His) rs199781261 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001375524.1(TRRAP):c.634-3C>T rs113339948 0.00023
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu) rs200943714 0.00023
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00023
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636 0.00023
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp) rs368380934 0.00023
NM_004752.4(GCM2):c.1395C>T (p.His465=) rs139538731 0.00023
NM_005101.4(ISG15):c.296G>A (p.Arg99Gln) rs374404353 0.00023
NM_005996.4(TBX3):c.700A>G (p.Ile234Val) rs117465019 0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) rs541943893 0.00023
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe) rs140665334 0.00023
NM_020549.5(CHAT):c.754C>T (p.His252Tyr) rs376994468 0.00023
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353 0.00023
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=) rs759030267 0.00023
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val) rs370003608 0.00023
NM_000379.4(XDH):c.1037C>T (p.Ala346Val) rs142388231 0.00022
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617 0.00022
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile) rs150038701 0.00022
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) rs201762017 0.00022
NM_001164508.2(NEB):c.12718G>A (p.Ala4240Thr) rs561736266 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566 0.00022
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) rs199710082 0.00022
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu) rs148355969 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.33911-6_33911-5insG rs765503214 0.00022
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00022
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001457.4(FLNB):c.4062-13C>G rs143371162 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_004168.4(SDHA):c.-2A>T rs763680697 0.00022
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu) rs546499094 0.00022
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys) rs200247956 0.00022
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly) rs368132877 0.00022
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu) rs143155251 0.00022
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00022
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile) rs551750608 0.00022
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp) rs142598777 0.00022
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00021
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val) rs376613199 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr) rs727504192 0.00021
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001348768.2(HECW2):c.872G>A (p.Arg291Gln) rs369637193 0.00021
NM_001378183.1(PIEZO2):c.1006G>A (p.Ala336Thr) rs368601054 0.00021
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129 0.00021
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys) rs374983276 0.00021
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn) rs371244800 0.00021
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00021
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00021
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766 0.00021
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00021
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser) rs147415811 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg) rs201928401 0.00021
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys) rs200128670 0.00021
NM_201384.3(PLEC):c.885G>A (p.Met295Ile) rs201041690 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00020
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00020
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 0.00020
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val) rs753862254 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) rs371759532 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile) rs367816473 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471 0.00020
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) rs200792813 0.00020
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) rs200474454 0.00020
NM_014915.3(ANKRD26):c.521C>G (p.Ala174Gly) rs201818373 0.00020
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00019
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00019
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00019
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00019
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser) rs141673997 0.00019
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00019
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met) rs191656849 0.00019
NM_000553.6(WRN):c.835C>T (p.Arg279Trp) rs199923241 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) rs142957871 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) rs72629782 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 0.00019
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln) rs267599059 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala) rs145940356 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile) rs372778818 0.00019
NM_001267550.2(TTN):c.5645G>A (p.Arg1882His) rs374605213 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile) rs374764110 0.00019
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser) rs377612718 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001267550.2(TTN):c.98385T>G (p.Ser32795Arg) rs373396567 0.00019
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr) rs560306385 0.00019
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val) rs200930248 0.00019
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn) rs370035829 0.00019
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=) rs200714716 0.00019
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00019
NM_005529.7(HSPG2):c.11482G>A (p.Glu3828Lys) rs200997062 0.00019
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg) rs769903041 0.00019
NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val) rs373986368 0.00019
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr) rs139691540 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp) rs34415548 0.00019
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00019
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00019
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp) rs142143178 0.00019
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=) rs376081492 0.00019
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) rs149012859 0.00019
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser) rs778439872 0.00018
NM_000324.3(RHAG):c.1101C>T (p.Ser367=) rs139371066 0.00018
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00018
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) rs201653851 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser) rs776899398 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00018
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00018
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00018
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00018
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys) rs186020523 0.00018
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys) rs148275567 0.00017
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00017
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00017
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00017
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000540.3(RYR1):c.2679C>G (p.Gly893=) rs765657226 0.00017
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00017
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) rs201693280 0.00017
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser) rs371022420 0.00017
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00017
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00017
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00017
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His) rs370048456 0.00017
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00017
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile) rs375141729 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys) rs373867080 0.00017
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe) rs376814602 0.00017
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00017
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00017
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) rs200186078 0.00017
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00017
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00017
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00017
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu) rs77146441 0.00017
NM_201384.3(PLEC):c.4652G>A (p.Arg1551His) rs374991369 0.00017
NM_201384.3(PLEC):c.4800C>T (p.His1600=) rs149044728 0.00017
NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln) rs561571844 0.00017
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn) rs371673069 0.00017
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660 0.00016
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met) rs776194441 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu) rs201588259 0.00016
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=) rs751557941 0.00016
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr) rs756640084 0.00016
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp) rs577066020 0.00016
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00016
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00016
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412 0.00016
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln) rs141965360 0.00016
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His) rs142129359 0.00016
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00016
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg) rs181766682 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398 0.00016
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His) rs375887656 0.00016
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) rs200206944 0.00016
NM_001458.5(FLNC):c.1108A>G (p.Met370Val) rs370406338 0.00016
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys) rs370539335 0.00016
NM_001458.5(FLNC):c.2686G>A (p.Gly896Arg) rs200215903 0.00016
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln) rs143720860 0.00016
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly) rs148545460 0.00016
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002185.5(IL7R):c.314G>A (p.Ser105Asn) rs150051812 0.00016
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) rs34044544 0.00016
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala) rs544332057 0.00016
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) rs201844450 0.00016
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile) rs142133195 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00016
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp) rs376189812 0.00016
NM_006182.4(DDR2):c.1153A>T (p.Thr385Ser) rs749852883 0.00016
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg) rs202081167 0.00016
NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr) rs200539540 0.00016
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu) rs142285373 0.00016
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959 0.00016
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00016
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00016
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser) rs373952777 0.00016
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val) rs200949161 0.00016
NM_201384.3(PLEC):c.7703G>A (p.Arg2568His) rs552039931 0.00016
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00015
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00015
NM_000170.3(GLDC):c.1927-4G>A rs576723612 0.00015
NM_000287.4(PEX6):c.543G>A (p.Val181=) rs368560418 0.00015
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile) rs201190252 0.00015
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) rs200695047 0.00015
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00015
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr) rs146754847 0.00015
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001142864.4(PIEZO1):c.2546G>A (p.Arg849His) rs774090082 0.00015
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln) rs547120028 0.00015
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=) rs375569766 0.00015
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00015
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) rs181679744 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00015
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00015
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00015
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00015
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00015
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00015
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val) rs372075439 0.00015
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00015
NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln) rs376283153 0.00015
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del) rs778364983 0.00015
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys) rs746309005 0.00015
NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu) rs374899663 0.00015
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala) rs147314754 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp) rs189796608 0.00015
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser) rs199707920 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00015
NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys) rs201395636 0.00015
NM_004667.6(HERC2):c.8740C>T (p.Arg2914Cys) rs150853451 0.00015
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324 0.00015
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00015
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu) rs201927283 0.00015
NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His) rs370252248 0.00015
NM_152722.5(HEPACAM):c.1166G>A (p.Arg389His) rs372070386 0.00015
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222 0.00015
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met) rs373690979 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507 0.00015
NM_201384.3(PLEC):c.10472G>A (p.Arg3491His) rs374469690 0.00015
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His) rs377150241 0.00015
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His) rs368152307 0.00015
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys) rs200652637 0.00015
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met) rs376112375 0.00014
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn) rs148371004 0.00014
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly) rs141950826 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp) rs373939435 0.00014
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr) rs368328716 0.00014
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00014
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00014
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys) rs190192954 0.00014
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr) rs371538856 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser) rs374449452 0.00014
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His) rs200835354 0.00014
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr) rs532844402 0.00014
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) rs374656017 0.00014
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370 0.00014
NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr) rs543275318 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys) rs201688358 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp) rs200022152 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys) rs149638325 0.00014
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val) rs200169573 0.00014
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys) rs376552785 0.00014
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln) rs564887323 0.00014
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr) rs151150099 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg) rs372600090 0.00014
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg) rs759348679 0.00014
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val) rs184647895 0.00014
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) rs199535268 0.00014
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00014
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647 0.00014
NM_182961.4(SYNE1):c.16573-3C>T rs376927135 0.00014
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys) rs781836500 0.00014
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) rs368212208 0.00014
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly) rs369344419 0.00014
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00013
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00013
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651 0.00013
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000112.4(SLC26A2):c.173G>A (p.Arg58His) rs199893058 0.00013
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000522.5(HOXA13):c.196G>T (p.Ala66Ser) rs773516831 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.7672G>A (p.Val2558Met) rs771523641 0.00013
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00013
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser) rs11574323 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001164508.2(NEB):c.9195C>T (p.His3065=) rs374734631 0.00013
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00013
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00013
NM_001267550.2(TTN):c.14639C>T (p.Ala4880Val) rs373683445 0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His) rs200941841 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn) rs768932465 0.00013
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942 0.00013
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn) rs199619070 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.35371G>T (p.Val11791Phe) rs200587998 0.00013
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr) rs373753003 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00013
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His) rs376080116 0.00013
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser) rs201337786 0.00013
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg) rs727505316 0.00013
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe) rs370080086 0.00013
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=) rs370292933 0.00013
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) rs146636599 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.91426G>A (p.Val30476Ile) rs377531244 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95082C>T (p.Ser31694=) rs776679937 0.00013
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00013
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys) rs186244950 0.00013
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00013
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp) rs117350233 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00013
NM_005529.7(HSPG2):c.3857A>G (p.Gln1286Arg) rs199788526 0.00013
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys) rs373448635 0.00013
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309 0.00013
NM_030632.3(ASXL3):c.4845G>T (p.Arg1615Ser) rs199888171 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met) rs149027078 0.00013
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565 0.00013
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604 0.00013
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00013
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=) rs564245730 0.00013
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His) rs368343687 0.00013
NM_201384.3(PLEC):c.9294C>T (p.Ala3098=) rs376753842 0.00013
NM_201384.3(PLEC):c.9841G>A (p.Val3281Met) rs202005454 0.00013
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00013
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00012
NM_000081.4(LYST):c.1664A>C (p.His555Pro) rs201106245 0.00012
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) rs727505310 0.00012
NM_001164508.2(NEB):c.10609G>A (p.Ala3537Thr) rs556492694 0.00012
NM_001164508.2(NEB):c.15715C>T (p.Arg5239Cys) rs1346076883 0.00012
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974 0.00012
NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr) rs201141064 0.00012
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861 0.00012
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile) rs200395305 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00012
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met) rs184923756 0.00012
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val) rs182720979 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn) rs370342831 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser) rs372802352 0.00012
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln) rs370516890 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln) rs375667028 0.00012
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546 0.00012
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_001848.3(COL6A1):c.726C>T (p.Asn242=) rs142102852 0.00012
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro) rs1246114252 0.00012
NM_003466.4(PAX8):c.346G>A (p.Val116Ile) rs764623767 0.00012
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met) rs72466581 0.00012
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe) rs201491948 0.00012
NM_012470.4(TNPO3):c.857G>A (p.Arg286His) rs140709222 0.00012
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn) rs202198533 0.00012
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_022173.4(TIA1):c.1078G>A (p.Val360Met) rs201905164 0.00012
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198 0.00012
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704 0.00012
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) rs148300854 0.00012
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00012
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00012
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser) rs988224463 0.00012
NM_198576.4(AGRN):c.1557C>T (p.Ala519=) rs146185843 0.00012
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273 0.00012
NM_201384.3(PLEC):c.3287G>A (p.Arg1096His) rs375617818 0.00012
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu) rs376494828 0.00012
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg) rs373741981 0.00012
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser) rs777168937 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=) rs143078882 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) rs202160739 0.00011
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys) rs372447456 0.00011
NM_001035.3(RYR2):c.14808+3A>G rs377491955 0.00011
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His) rs371267171 0.00011
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu) rs373829936 0.00011
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00011
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln) rs201954720 0.00011
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr) rs375577529 0.00011
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr) rs550441902 0.00011
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) rs201945791 0.00011
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile) rs370418677 0.00011
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00011
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) rs199834143 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His) rs200456782 0.00011
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00011
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00011
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743 0.00011
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile) rs371286595 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601 0.00011
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val) rs201818722 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile) rs372784067 0.00011
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln) rs183238138 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg) rs72648234 0.00011
NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile) rs138958733 0.00011
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00011
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.94593G>A (p.Ala31531=) rs373301015 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met) rs372302484 0.00011
NM_001332.4(CTNND2):c.593C>T (p.Thr198Met) rs141302945 0.00011
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=) rs770649913 0.00011
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505 0.00011
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr) rs377141822 0.00011
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His) rs374384263 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_003126.4(SPTA1):c.749G>A (p.Arg250His) rs759192785 0.00011
NM_003482.4(KMT2D):c.14643+3A>T rs374232950 0.00011
NM_003737.4(DCHS1):c.6180G>A (p.Gly2060=) rs145160213 0.00011
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp) rs556465096 0.00011
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_005228.5(EGFR):c.61G>A (p.Ala21Thr) rs373129709 0.00011
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile) rs201389731 0.00011
NM_007078.3(LDB3):c.794G>A (p.Arg265His) rs45458895 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser) rs200997003 0.00011
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val) rs373049356 0.00011
NM_017780.4(CHD7):c.2273G>A (p.Arg758His) rs202208393 0.00011
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His) rs539364383 0.00011
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln) rs201616704 0.00011
NM_032578.4(MYPN):c.395C>T (p.Pro132Leu) rs201203517 0.00011
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361 0.00011
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His) rs200386096 0.00011
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met) rs145018323 0.00011
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile) rs773841153 0.00011
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338 0.00011
NM_201384.3(PLEC):c.10459G>A (p.Val3487Met) rs202001247 0.00011
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=) rs375573910 0.00011
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr) rs369497741 0.00011
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile) rs201163149 0.00011
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala) rs782756146 0.00011
NM_201384.3(PLEC):c.13486G>A (p.Gly4496Ser) rs782618187 0.00011
NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp) rs962321651 0.00011
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) rs200618217 0.00011
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met) rs369522291 0.00011
NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln) rs552713184 0.00011
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000032.5(ALAS2):c.98T>C (p.Phe33Ser) rs779247451 0.00010
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile) rs199931771 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000081.4(LYST):c.2826A>G (p.Pro942=) rs149558986 0.00010
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) rs552210450 0.00010
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00010
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg) rs376833596 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_000426.4(LAMA2):c.9262A>G (p.Ile3088Val) rs768834542 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_000553.6(WRN):c.514A>C (p.Thr172Pro) rs367991517 0.00010
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met) rs375463904 0.00010
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu) rs570744198 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln) rs551905996 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) rs200792058 0.00010
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met) rs200359082 0.00010
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His) rs397517510 0.00010
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His) rs144587343 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln) rs368885310 0.00010
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe) rs551911856 0.00010
NM_001267550.2(TTN):c.39606A>G (p.Pro13202=) rs372356060 0.00010
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) rs369709751 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys) rs370474301 0.00010
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00010
NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val) rs372407708 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly) rs368023868 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His) rs774296358 0.00010
NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly) rs752027721 0.00010
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00010
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr) rs192004962 0.00010
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met) rs143914684 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.5815G>A (p.Ala1939Thr) rs145474376 0.00010
NM_005548.3(KARS1):c.222+10C>T rs374496494 0.00010
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu) rs782210973 0.00010
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339 0.00010
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=) rs751186949 0.00010
NM_020549.5(CHAT):c.119G>T (p.Gly40Val) rs776411377 0.00010
NM_022489.4(INF2):c.2489G>T (p.Gly830Val) rs377340315 0.00010
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr) rs201180985 0.00010
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp) rs143920565 0.00010
NM_139242.4(MTFMT):c.17G>C (p.Arg6Pro) rs771777757 0.00010
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852 0.00010
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr) rs782767733 0.00010
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met) rs573424409 0.00010
NM_201384.3(PLEC):c.2458-7G>A rs372799330 0.00010
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val) rs201922111 0.00010
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr) rs200680102 0.00010
NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=) rs201460864 0.00010
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271 0.00009
NM_000046.5(ARSB):c.1122C>T (p.Phe374=) rs149886659 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile) rs138837077 0.00009
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00009
NM_000257.4(MYH7):c.5559+5G>A rs371177871 0.00009
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967 0.00009
NM_000426.4(LAMA2):c.5317C>T (p.Arg1773Trp) rs138695453 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg) rs202226983 0.00009
NM_000540.3(RYR1):c.4185C>T (p.Val1395=) rs761955179 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=) rs200068725 0.00009
NM_001046.3(SLC12A2):c.449C>T (p.Ser150Leu) rs114437564 0.00009
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134 0.00009
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile) rs369742607 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=) rs768775204 0.00009
NM_001142864.4(PIEZO1):c.4820T>C (p.Met1607Thr) rs756364348 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001199753.2(CPT1C):c.1894G>A (p.Val632Met) rs141139944 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met) rs552058608 0.00009
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00009
NM_001267550.2(TTN):c.14518A>C (p.Asn4840His) rs199997460 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile) rs371267140 0.00009
NM_001267550.2(TTN):c.22312C>T (p.Leu7438Phe) rs371114946 0.00009
NM_001267550.2(TTN):c.22667G>A (p.Arg7556His) rs374344734 0.00009
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848 0.00009
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His) rs199598066 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu) rs72647861 0.00009
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala) rs199561793 0.00009
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala) rs564353179 0.00009
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met) rs766145596 0.00009
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His) rs368988689 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp) rs368026488 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met) rs372685222 0.00009
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser) rs373204984 0.00009
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr) rs759110420 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile) rs753966916 0.00009
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val) rs750806089 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala) rs759474127 0.00009
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu) rs370541682 0.00009
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser) rs374887049 0.00009
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809 0.00009
NM_001355436.2(SPTB):c.2979C>G (p.Ile993Met) rs764571605 0.00009
NM_001355436.2(SPTB):c.65G>A (p.Arg22His) rs200116664 0.00009
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu) rs764197422 0.00009
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys) rs141616435 0.00009
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val) rs547997371 0.00009
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val) rs202184162 0.00009
NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr) rs565918031 0.00009
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356 0.00009
NM_002335.4(LRP5):c.3697G>A (p.Asp1233Asn) rs146388120 0.00009
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile) rs369125471 0.00009
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn) rs375506528 0.00009
NM_003482.4(KMT2D):c.14701C>G (p.Leu4901Val) rs781467355 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met) rs200285714 0.00009
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=) rs144592806 0.00009
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815 0.00009
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_005562.3(LAMC2):c.1039C>T (p.Arg347Cys) rs188149266 0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 0.00009
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser) rs533757634 0.00009
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) rs200790641 0.00009
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln) rs199422214 0.00009
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) rs148329626 0.00009
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304 0.00009
NM_007327.4(GRIN1):c.610G>A (p.Val204Met) rs140422926 0.00009
NM_017534.6(MYH2):c.1566C>T (p.Ala522=) rs142383679 0.00009
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys) rs147815999 0.00009
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr) rs555600636 0.00009
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu) rs143640165 0.00009
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) rs80356462 0.00009
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp) rs761998546 0.00009
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=) rs759825628 0.00009
NM_182961.4(SYNE1):c.24977-1718G>A rs370143116 0.00009
NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu) rs377598440 0.00009
NM_201384.3(PLEC):c.12465C>T (p.Tyr4155=) rs773080070 0.00009
NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys) rs375593618 0.00009
NM_201384.3(PLEC):c.13240C>T (p.Arg4414Cys) rs200447944 0.00009
NM_213599.3(ANO5):c.1332+8A>G rs368857740 0.00009
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met) rs2227872 0.00008
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln) rs776289036 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr) rs72654426 0.00008
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.13190C>G (p.Ala4397Gly) rs1057520588 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.5289G>A (p.Pro1763=) rs376482004 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala) rs549598246 0.00008
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg) rs548471822 0.00008
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys) rs369195237 0.00008
NM_001267550.2(TTN):c.28354G>A (p.Ala9452Thr) rs527663092 0.00008
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00008
NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn) rs147020824 0.00008
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His) rs539470256 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158 0.00008
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys) rs377563403 0.00008
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe) rs746817480 0.00008
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln) rs377203669 0.00008
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp) rs778703530 0.00008
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00008
NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile) rs558955595 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser) rs529055709 0.00008
NM_001267550.2(TTN):c.82488C>T (p.Asp27496=) rs373909196 0.00008
NM_001267550.2(TTN):c.85472G>A (p.Arg28491His) rs373129706 0.00008
NM_001267550.2(TTN):c.92710A>G (p.Lys30904Glu) rs370265204 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.95462A>G (p.Lys31821Arg) rs372388579 0.00008
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp) rs201463708 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_001457.4(FLNB):c.5348C>T (p.Thr1783Met) rs189785975 0.00008
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00008
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00008
NM_003126.4(SPTA1):c.2665G>T (p.Ala889Ser) rs200293444 0.00008
NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His) rs750860161 0.00008
NM_004006.3(DMD):c.733A>G (p.Ile245Val) rs140510985 0.00008
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu) rs201361100 0.00008
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282 0.00008
NM_005901.6(SMAD2):c.579G>A (p.Leu193=) rs200480021 0.00008
NM_007126.5(VCP):c.1194+3G>A rs183223259 0.00008
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00008
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg) rs764496155 0.00008
NM_020549.5(CHAT):c.326C>T (p.Thr109Met) rs542610160 0.00008
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile) rs763175161 0.00008
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
NM_201384.3(PLEC):c.11735G>A (p.Arg3912Gln) rs781960031 0.00008
NM_201384.3(PLEC):c.1506G>C (p.Gln502His) rs571497788 0.00008
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys) rs782026068 0.00008
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His) rs367679924 0.00008
NM_201384.3(PLEC):c.9116G>A (p.Ser3039Asn) rs374776968 0.00008
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp) rs373831849 0.00008
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met) rs201349099 0.00008
NC_000001.11:g.114695547A>G rs377496676 0.00007
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) rs376789465 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr) rs141787797 0.00007
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00007
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe) rs782668224 0.00007
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00007
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys) rs55637644 0.00007
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840 0.00007
NM_000518.5(HBB):c.93-38G>A rs370724350 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=) rs376851030 0.00007
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462 0.00007
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr) rs368567109 0.00007
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys) rs141109968 0.00007
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00007
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg) rs148628141 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001142864.4(PIEZO1):c.1196-4G>C rs946453254 0.00007
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys) rs750545429 0.00007
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys) rs546108970 0.00007
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 0.00007
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met) rs397517795 0.00007
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467 0.00007
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) rs143499441 0.00007
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val) rs397517487 0.00007
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00007
NM_001267550.2(TTN):c.21036G>T (p.Arg7012Ser) rs1024577519 0.00007
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr) rs143444636 0.00007
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe) rs550882549 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 0.00007
NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg) rs374930292 0.00007
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu) rs768632287 0.00007
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His) rs571348685 0.00007
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) rs752629624 0.00007
NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr) rs374563054 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00007
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr) rs370995867 0.00007
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His) rs727503585 0.00007
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00007
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00007
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln) rs55853138 0.00007
NM_001267550.2(TTN):c.71452A>G (p.Ile23818Val) rs776911847 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952 0.00007
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu) rs368058280 0.00007
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile) rs766753906 0.00007
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) rs766419568 0.00007
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr) rs373732722 0.00007
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met) rs199532781 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) rs191708454 0.00007
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00007
NM_001458.5(FLNC):c.1142G>A (p.Arg381His) rs776469396 0.00007
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln) rs765173966 0.00007
NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val) rs775496136 0.00007
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His) rs370042010 0.00007
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met) rs199768217 0.00007
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile) rs202209298 0.00007
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr) rs568865339 0.00007
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr) rs569816517 0.00007
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala) rs759520932 0.00007
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser) rs202244328 0.00007
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala) rs373898385 0.00007
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala) rs368996545 0.00007
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_004006.3(DMD):c.863G>C (p.Arg288Thr) rs767304770 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile) rs757394666 0.00007
NM_004525.3(LRP2):c.3285C>T (p.Gly1095=) rs986671553 0.00007
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met) rs200761248 0.00007
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00007
NM_005529.7(HSPG2):c.9120C>T (p.Ser3040=) rs781013408 0.00007
NM_005573.4(LMNB1):c.814-3T>C rs372984423 0.00007
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00007
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022 0.00007
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr) rs575240073 0.00007
NM_020376.4(PNPLA2):c.326A>G (p.His109Arg) rs200683247 0.00007
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile) rs757733319 0.00007
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg) rs533000838 0.00007
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr) rs200276333 0.00007
NM_032415.7(CARD11):c.1994C>T (p.Ser665Leu) rs147823569 0.00007
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu) rs777446804 0.00007
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val) rs201975081 0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00007
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00007
NM_152722.5(HEPACAM):c.115C>T (p.Pro39Ser) rs545531081 0.00007
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00007
NM_173689.7(CRB2):c.2116C>T (p.Arg706Trp) rs575676072 0.00007
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) rs746864807 0.00007
NM_201384.3(PLEC):c.1123G>A (p.Val375Met) rs199866423 0.00007
NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=) rs562934299 0.00007
NM_201384.3(PLEC):c.5507C>T (p.Ala1836Val) rs782216341 0.00007
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=) rs370347438 0.00007
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln) rs368318946 0.00007
NC_000021.9:g.45405398C>T rs754075778 0.00006
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735 0.00006
NM_000032.5(ALAS2):c.577G>A (p.Val193Ile) rs772482624 0.00006
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys) rs80359218 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000081.4(LYST):c.4983G>A (p.Leu1661=) rs1482156206 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00006
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352 0.00006
NM_000257.4(MYH7):c.115G>A (p.Val39Met) rs376160714 0.00006
NM_000324.3(RHAG):c.187G>C (p.Val63Leu) rs778934246 0.00006
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile) rs148181903 0.00006
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met) rs150977342 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 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.7992C>T (p.Phe2664=) rs150620191 0.00006
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr) rs375755924 0.00006
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser) rs577767034 0.00006
NM_001040716.2(PC):c.2285G>A (p.Arg762His) rs574858955 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=) rs767656648 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser) rs200248814 0.00006
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=) rs1390774664 0.00006
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=) rs150496369 0.00006
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr) rs142326967 0.00006
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr) rs764179161 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys) rs530959653 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val) rs769369764 0.00006
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His) rs752226947 0.00006
NM_001267550.2(TTN):c.19190C>T (p.Thr6397Met) rs199564845 0.00006
NM_001267550.2(TTN):c.20924C>T (p.Pro6975Leu) rs374493881 0.00006
NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val) rs764832849 0.00006
NM_001267550.2(TTN):c.22576G>T (p.Val7526Phe) rs754972548 0.00006
NM_001267550.2(TTN):c.23068G>A (p.Ala7690Thr) rs763029699 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe) rs746558975 0.00006
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala) rs766638714 0.00006
NM_001267550.2(TTN):c.29960T>A (p.Ile9987Asn) rs376644553 0.00006
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00006
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His) rs750278602 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu) rs201390600 0.00006
NM_001267550.2(TTN):c.44456C>T (p.Thr14819Ile) rs778014249 0.00006
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu) rs751929345 0.00006
NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn) rs571524382 0.00006
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala) rs199910114 0.00006
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) rs768914789 0.00006
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245 0.00006
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp) rs770902874 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=) rs771792080 0.00006
NM_001267550.2(TTN):c.55037G>T (p.Arg18346Ile) rs573136400 0.00006
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg) rs770499179 0.00006
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met) rs373153121 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00006
NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val) rs371988490 0.00006
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp) rs727504479 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.63132T>C (p.Ile21044=) rs561183059 0.00006
NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro) rs367838375 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.6639G>T (p.Glu2213Asp) rs745719077 0.00006
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys) rs761241302 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln) rs200191748 0.00006
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met) rs760633130 0.00006
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00006
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894 0.00006
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His) rs755174224 0.00006
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149 0.00006
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=) rs370272814 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met) rs556000493 0.00006
NM_001267550.2(TTN):c.79780C>A (p.Leu26594Ile) rs759737599 0.00006
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu) rs200489046 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser) rs727504693 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn) rs757300589 0.00006
NM_001267550.2(TTN):c.919G>A (p.Val307Met) rs371056974 0.00006
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) rs200621611 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser) rs762160311 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671 0.00006
NM_001378457.1(DMXL2):c.7393-15T>C rs746954557 0.00006
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser) rs370198850 0.00006
NM_001379500.1(COL18A1):c.156G>A (p.Pro52=) rs373105258 0.00006
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met) rs780829334 0.00006
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys) rs538779271 0.00006
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) rs201094892 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr) rs374011338 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His) rs778287981 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_003482.4(KMT2D):c.10523G>A (p.Arg3508Gln) rs772010347 0.00006
NM_004006.3(DMD):c.1066C>T (p.Leu356Phe) rs199981454 0.00006
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu) rs144718274 0.00006
NM_004281.4(BAG3):c.167C>G (p.Ser56Cys) rs777100532 0.00006
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00006
NM_004369.4(COL6A3):c.6930+4C>T rs375657891 0.00006
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00006
NM_004667.6(HERC2):c.13566G>A (p.Pro4522=) rs574228980 0.00006
NM_005529.7(HSPG2):c.11770+10G>A rs746954804 0.00006
NM_005529.7(HSPG2):c.8776C>A (p.Pro2926Thr) rs370487132 0.00006
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr) rs200611081 0.00006
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171 0.00006
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr) rs201911936 0.00006
NM_015909.4(NBAS):c.1903A>T (p.Ile635Phe) rs201269329 0.00006
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) rs369907002 0.00006
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr) rs749781761 0.00006
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) rs142458862 0.00006
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr) rs567872241 0.00006
NM_021008.4(DEAF1):c.1318G>A (p.Ala440Thr) rs149746031 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021956.5(GRIK2):c.1285T>A (p.Ser429Thr) rs767297777 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala) rs200123403 0.00006
NM_032119.4(ADGRV1):c.5387C>G (p.Ser1796Cys) rs770897158 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser) rs12674022 0.00006
NM_181712.5(KANK4):c.2095del (p.Cys699fs) rs775562315 0.00006
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702 0.00006
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256 0.00006
NM_199242.3(UNC13D):c.1014C>T (p.His338=) rs375097777 0.00006
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val) rs370079447 0.00006
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys) rs782531580 0.00006
NM_201384.3(PLEC):c.11602G>A (p.Asp3868Asn) rs782028739 0.00006
NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val) rs782174299 0.00006
NM_201384.3(PLEC):c.2643G>A (p.Thr881=) rs369973592 0.00006
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp) rs774270631 0.00006
NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val) rs558775133 0.00006
NM_201384.3(PLEC):c.9295G>A (p.Glu3099Lys) rs782532815 0.00006
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00005
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met) rs267608089 0.00005
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His) rs138703739 0.00005
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00005
NM_000426.4(LAMA2):c.7058G>A (p.Arg2353His) rs548483084 0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser) rs202225176 0.00005
NM_000540.3(RYR1):c.7800T>C (p.Arg2600=) rs762682222 0.00005
NM_000540.3(RYR1):c.7839C>T (p.Tyr2613=) rs758413758 0.00005
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys) rs201276068 0.00005
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala) rs777609224 0.00005
NM_001079872.2(CUL4B):c.920+9G>A rs375607970 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) rs373089783 0.00005
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342 0.00005
NM_001142864.4(PIEZO1):c.5827C>T (p.Arg1943Trp) rs970663890 0.00005
NM_001164508.2(NEB):c.23185G>A (p.Ala7729Thr) rs886038449 0.00005
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=) rs747458739 0.00005
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala) rs374767754 0.00005
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184 0.00005
NM_001267550.2(TTN):c.102328C>T (p.Arg34110Trp) rs754873937 0.00005
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00005
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr) rs771741670 0.00005
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala) rs771136390 0.00005
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00005
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met) rs377056111 0.00005
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala) rs368179478 0.00005
NM_001267550.2(TTN):c.133G>C (p.Val45Leu) rs142028110 0.00005
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266 0.00005
NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala) rs376799249 0.00005
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) rs375652574 0.00005
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219 0.00005
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu) rs760007747 0.00005
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00005
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys) rs754885396 0.00005
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu) rs369508943 0.00005
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00005
NM_001267550.2(TTN):c.24619G>A (p.Asp8207Asn) rs756813056 0.00005
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met) rs777730788 0.00005
NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu) rs374075627 0.00005
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr) rs201635835 0.00005
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile) rs375735354 0.00005
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys) rs199684560 0.00005
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met) rs759373140 0.00005
NM_001267550.2(TTN):c.44813T>C (p.Val14938Ala) rs571522834 0.00005
NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln) rs752671402 0.00005
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00005
NM_001267550.2(TTN):c.48670T>C (p.Trp16224Arg) rs148549746 0.00005
NM_001267550.2(TTN):c.50308C>T (p.Leu16770=) rs370782852 0.00005
NM_001267550.2(TTN):c.5296G>A (p.Val1766Ile) rs149494502 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser) rs766074604 0.00005
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532 0.00005
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063 0.00005
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00005
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His) rs373169150 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly) rs201223583 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile) rs72646892 0.00005
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His) rs398124455 0.00005
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.74582C>T (p.Ala24861Val) rs149232991 0.00005
NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg) rs201839118 0.00005
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr) rs199514898 0.00005
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln) rs375693686 0.00005
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile) rs377667066 0.00005
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys) rs774978209 0.00005
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293 0.00005
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn) rs376737897 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser) rs750213547 0.00005
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His) rs369899675 0.00005
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr) rs555405542 0.00005
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036 0.00005
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr) rs781572378 0.00005
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00005
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg) rs147903846 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu) rs201379132 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001347721.2(DYRK1A):c.300+3A>G rs1241074832 0.00005
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_001374385.1(ATP8B1):c.1538T>C (p.Ile513Thr) rs772028343 0.00005
NM_001375524.1(TRRAP):c.5334+3G>A rs202055793 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe) rs768635501 0.00005
NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr) rs766740877 0.00005
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) rs775754967 0.00005
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser) rs141418421 0.00005
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 0.00005
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00005
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) rs772490888 0.00005
NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln) rs374700658 0.00005
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722 0.00005
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln) rs754655315 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met) rs377119410 0.00005
NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val) rs377362395 0.00005
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His) rs764529922 0.00005
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg) rs368594777 0.00005
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys) rs145739725 0.00005
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe) rs377156960 0.00005
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp) rs727503815 0.00005
NM_004006.3(DMD):c.923C>A (p.Thr308Asn) rs145064612 0.00005
NM_004046.6(ATP5F1A):c.389T>C (p.Ile130Thr) rs563376014 0.00005
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln) rs200751269 0.00005
NM_005529.7(HSPG2):c.12666-4G>A rs575126803 0.00005
NM_005566.4(LDHA):c.843C>T (p.Tyr281=) rs143206293 0.00005
NM_006147.4(IRF6):c.1259G>A (p.Arg420His) rs115777201 0.00005
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln) rs761759814 0.00005
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00005
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00005
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr) rs539376933 0.00005
NM_014727.3(KMT2B):c.5092G>A (p.Asp1698Asn) rs374963939 0.00005
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00005
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg) rs201474295 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_018896.5(CACNA1G):c.1556C>T (p.Pro519Leu) rs757227515 0.00005
NM_020549.5(CHAT):c.1037G>A (p.Arg346His) rs779668516 0.00005
NM_020549.5(CHAT):c.1814G>A (p.Arg605His) rs199926163 0.00005
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His) rs377502779 0.00005
NM_024334.3(TMEM43):c.214G>A (p.Val72Met) rs368603914 0.00005
NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr) rs145189350 0.00005
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val) rs544395324 0.00005
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg) rs771737095 0.00005
NM_032237.5(POMK):c.256C>T (p.Arg86Cys) rs370978230 0.00005
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu) rs370757859 0.00005
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00005
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) rs767076281 0.00005
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856 0.00005
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln) rs376555091 0.00005
NM_201384.3(PLEC):c.7666C>T (p.Arg2556Trp) rs781882121 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382 0.00004
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu) rs11229062 0.00004
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser) rs200290149 0.00004
NM_000124.4(ERCC6):c.803C>T (p.Ala268Val) rs548033657 0.00004
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00004
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr) rs753256800 0.00004
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala) rs545675333 0.00004
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) rs369142107 0.00004
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly) rs201956601 0.00004
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461 0.00004
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665 0.00004
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358 0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696 0.00004
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn) rs753726014 0.00004
NM_000540.3(RYR1):c.13269G>A (p.Glu4423=) rs896569937 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala) rs202144045 0.00004
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met) rs758995387 0.00004
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729 0.00004
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783 0.00004
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His) rs992473797 0.00004
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln) rs377011269 0.00004
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr) rs990382620 0.00004
NM_001170535.3(ATAD3A):c.384C>T (p.Ala128=) rs763685989 0.00004
NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=) rs757704473 0.00004
NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr) rs764462476 0.00004
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys) rs748104690 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile) rs774524898 0.00004
NM_001267550.2(TTN):c.106858G>A (p.Glu35620Lys) rs377593605 0.00004
NM_001267550.2(TTN):c.14119G>A (p.Glu4707Lys) rs749584249 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser) rs752924679 0.00004
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn) rs774503024 0.00004
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) rs794727755 0.00004
NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg) rs774937703 0.00004
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387 0.00004
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His) rs548015673 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.19180G>C (p.Val6394Leu) rs370515485 0.00004
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=) rs372654116 0.00004
NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp) rs727504736 0.00004
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser) rs200954184 0.00004
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856 0.00004
NM_001267550.2(TTN):c.23308G>A (p.Gly7770Arg) rs374739582 0.00004
NM_001267550.2(TTN):c.23444G>A (p.Arg7815Gln) rs372804810 0.00004
NM_001267550.2(TTN):c.2358C>G (p.His786Gln) rs199507913 0.00004
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn) rs397517506 0.00004
NM_001267550.2(TTN):c.26148A>G (p.Lys8716=) rs778772942 0.00004
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00004
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp) rs190600127 0.00004
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.2854G>C (p.Val952Leu) rs373848402 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.31174G>A (p.Glu10392Lys) rs187792775 0.00004
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) rs755562550 0.00004
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062 0.00004
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly) rs190461403 0.00004
NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val) rs371426048 0.00004
NM_001267550.2(TTN):c.42383G>C (p.Gly14128Ala) rs370793851 0.00004
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=) rs368155350 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) rs397517571 0.00004
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe) rs72677226 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg) rs761815745 0.00004
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His) rs397517593 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn) rs765148928 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys) rs200544272 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp) rs556286196 0.00004
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln) rs186809500 0.00004
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu) rs374118468 0.00004
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=) rs1217782958 0.00004
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe) rs377529060 0.00004
NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr) rs374845737 0.00004
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=) rs774995592 0.00004
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser) rs375401971 0.00004
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=) rs776272431 0.00004
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr) rs528707403 0.00004
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe) rs374736305 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr) rs373765469 0.00004
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) rs368759398 0.00004
NM_001267550.2(TTN):c.76527C>T (p.Asp25509=) rs780539951 0.00004
NM_001267550.2(TTN):c.7815C>T (p.Tyr2605=) rs184428451 0.00004
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His) rs530507211 0.00004
NM_001267550.2(TTN):c.80083G>T (p.Val26695Leu) rs772729384 0.00004
NM_001267550.2(TTN):c.83925G>A (p.Lys27975=) rs1031543708 0.00004
NM_001267550.2(TTN):c.85723G>A (p.Glu28575Lys) rs760762822 0.00004
NM_001267550.2(TTN):c.88591C>T (p.Leu29531Phe) rs371483198 0.00004
NM_001267550.2(TTN):c.9154T>C (p.Tyr3052His) rs763833161 0.00004
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys) rs563887822 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys) rs569593251 0.00004
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518 0.00004
NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg) rs562178341 0.00004
NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe) rs561932256 0.00004
NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser) rs17854478 0.00004
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) rs369792621 0.00004
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) rs541476418 0.00004
NM_001375524.1(TRRAP):c.4900G>A (p.Gly1634Ser) rs782510081 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_001457.4(FLNB):c.2935G>A (p.Val979Met) rs376511120 0.00004
NM_001457.4(FLNB):c.3770C>T (p.Pro1257Leu) rs199760437 0.00004
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile) rs373573447 0.00004
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His) rs746731567 0.00004
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr) rs201486752 0.00004
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn) rs2639142 0.00004
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg) rs752346924 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001845.6(COL4A1):c.4640+3G>T rs770167198 0.00004
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) rs137924205 0.00004
NM_003126.4(SPTA1):c.2588-3T>C rs375142282 0.00004
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249 0.00004
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys) rs372085797 0.00004
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn) rs199787155 0.00004
NM_004006.3(DMD):c.2252G>A (p.Arg751Gln) rs747802164 0.00004
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004006.3(DMD):c.3921+12A>G rs760373690 0.00004
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser) rs766746479 0.00004
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile) rs143426249 0.00004
NM_004304.5(ALK):c.32C>T (p.Pro11Leu) rs767822322 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518 0.00004
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys) rs778415707 0.00004
NM_004946.3(DOCK2):c.44-9G>A rs778542070 0.00004
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) rs753575587 0.00004
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) rs779379680 0.00004
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00004
NM_005529.7(HSPG2):c.7407G>A (p.Thr2469=) rs200462415 0.00004
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr) rs201508804 0.00004
NM_005633.4(SOS1):c.115G>A (p.Glu39Lys) rs375934353 0.00004
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val) rs759136937 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006922.4(SCN3A):c.928A>T (p.Met310Leu) rs776260027 0.00004
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr) rs530727340 0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=) rs374336458 0.00004
NM_014159.7(SETD2):c.2849G>A (p.Arg950His) rs149265978 0.00004
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro) rs3748694 0.00004
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu) rs369543203 0.00004
NM_018834.6(MATR3):c.1778+3A>G rs568895329 0.00004
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu) rs763184652 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478 0.00004
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00004
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg) rs573684358 0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) rs773404950 0.00004
NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln) rs772121051 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_130468.4(CHST14):c.315G>A (p.Arg105=) rs903042632 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_173689.7(CRB2):c.2416G>A (p.Val806Ile) rs560877883 0.00004
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00004
NM_182925.5(FLT4):c.521C>T (p.Ser174Leu) rs773696166 0.00004
NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val) rs368803763 0.00004
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr) rs541209817 0.00004
NM_201384.3(PLEC):c.5115G>A (p.Ala1705=) rs782757364 0.00004
NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val) rs782360547 0.00004
NM_201384.3(PLEC):c.6241G>A (p.Gly2081Ser) rs782450868 0.00004
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys) rs782713908 0.00004
NM_201384.3(PLEC):c.6427G>A (p.Glu2143Lys) rs782305250 0.00004
NM_206933.4(USH2A):c.14871G>C (p.Leu4957=) rs748007443 0.00004
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000081.4(LYST):c.5674A>G (p.Met1892Val) rs200512692 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys) rs769191749 0.00003
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys) rs750199580 0.00003
NM_000202.8(IDS):c.1373G>A (p.Arg458His) rs782697859 0.00003
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu) rs781062564 0.00003
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00003
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys) rs749020872 0.00003
NM_000342.4(SLC4A1):c.877-3dup rs747181893 0.00003
NM_000400.4(ERCC2):c.718+8G>A rs543196752 0.00003
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.1211A>G (p.His404Arg) rs561546643 0.00003
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met) rs370851779 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=) rs951057994 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp) rs777271963 0.00003
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836 0.00003
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg) rs536050342 0.00003
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) rs375101073 0.00003
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032 0.00003
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922 0.00003
NM_001134407.3(GRIN2A):c.3787G>A (p.Gly1263Arg) rs142113044 0.00003
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132 0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln) rs367989965 0.00003
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=) rs376535906 0.00003
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe) rs537233133 0.00003
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731 0.00003
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln) rs752274547 0.00003
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00003
NM_001267550.2(TTN):c.100534A>T (p.Asn33512Tyr) rs778965506 0.00003
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu) rs773561397 0.00003
NM_001267550.2(TTN):c.100662G>A (p.Gln33554=) rs1036339690 0.00003
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00003
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln) rs397517788 0.00003
NM_001267550.2(TTN):c.104179A>G (p.Arg34727Gly) rs555555534 0.00003
NM_001267550.2(TTN):c.104812C>T (p.Leu34938=) rs755726554 0.00003
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=) rs752897450 0.00003
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val) rs762136167 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu) rs560557634 0.00003
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu) rs766440492 0.00003
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) rs374859388 0.00003
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile) rs371639583 0.00003
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg) rs377754692 0.00003
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936 0.00003
NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu) rs754848806 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.21189G>A (p.Leu7063=) rs758622900 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln) rs761383124 0.00003
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu) rs560272834 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.2301A>G (p.Arg767=) rs746831560 0.00003
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala) rs778611558 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.25829A>G (p.His8610Arg) rs561059250 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383 0.00003
NM_001267550.2(TTN):c.28299C>G (p.Asp9433Glu) rs372608982 0.00003
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) rs140953779 0.00003
NM_001267550.2(TTN):c.31841C>A (p.Ala10614Asp) rs376754004 0.00003
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val) rs752903377 0.00003
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys) rs376117402 0.00003
NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr) rs398124447 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.422G>A (p.Gly141Glu) rs750730828 0.00003
NM_001267550.2(TTN):c.44349C>T (p.Phe14783=) rs367744803 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) rs781392140 0.00003
NM_001267550.2(TTN):c.45739A>C (p.Ile15247Leu) rs373857517 0.00003
NM_001267550.2(TTN):c.46147G>C (p.Glu15383Gln) rs773073914 0.00003
NM_001267550.2(TTN):c.46564G>C (p.Gly15522Arg) rs750435043 0.00003
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser) rs397517588 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr) rs764388462 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala) rs752204728 0.00003
NM_001267550.2(TTN):c.5147G>A (p.Arg1716His) rs771659260 0.00003
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile) rs567781604 0.00003
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala) rs565423253 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.55213C>T (p.Arg18405Cys) rs199656264 0.00003
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg) rs201091423 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=) rs780536141 0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.60782C>T (p.Thr20261Ile) rs555901678 0.00003
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891 0.00003
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His) rs758019778 0.00003
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00003
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr) rs752176305 0.00003
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) rs764330098 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met) rs540840413 0.00003
NM_001267550.2(TTN):c.70328G>A (p.Arg23443Gln) rs762529671 0.00003
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164 0.00003
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His) rs371821218 0.00003
NM_001267550.2(TTN):c.74546G>A (p.Arg24849Gln) rs745488276 0.00003
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys) rs397517701 0.00003
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00003
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp) rs369019463 0.00003
NM_001267550.2(TTN):c.79315C>T (p.Arg26439Cys) rs372968732 0.00003
NM_001267550.2(TTN):c.79865C>T (p.Pro26622Leu) rs532706350 0.00003
NM_001267550.2(TTN):c.81844A>G (p.Lys27282Glu) rs761201021 0.00003
NM_001267550.2(TTN):c.8269G>A (p.Val2757Ile) rs769822096 0.00003
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe) rs752974639 0.00003
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=) rs144731702 0.00003
NM_001267550.2(TTN):c.85421G>A (p.Arg28474His) rs754356257 0.00003
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn) rs56330345 0.00003
NM_001267550.2(TTN):c.87263C>T (p.Thr29088Ile) rs565333965 0.00003
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His) rs143193258 0.00003
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys) rs200651247 0.00003
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His) rs374474227 0.00003
NM_001267550.2(TTN):c.9226A>G (p.Met3076Val) rs766144077 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.93305A>G (p.Tyr31102Cys) rs374084427 0.00003
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile) rs780436747 0.00003
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00003
NM_001267550.2(TTN):c.95743G>T (p.Ala31915Ser) rs1490243211 0.00003
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr) rs745962752 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001267550.2(TTN):c.98098+3G>A rs556524594 0.00003
NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr) rs746586029 0.00003
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471 0.00003
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=) rs1286076100 0.00003
NM_001355436.2(SPTB):c.4376G>A (p.Arg1459Gln) rs148127231 0.00003
NM_001375524.1(TRRAP):c.8458A>G (p.Ile2820Val) rs140534199 0.00003
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001378183.1(PIEZO2):c.2032C>T (p.Leu678=) rs999773875 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001386125.1(OBSCN):c.962A>G (p.Tyr321Cys) rs771719843 0.00003
NM_001386298.1(CIC):c.4928C>T (p.Ser1643Leu) rs587778197 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr) rs370716086 0.00003
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn) rs201863231 0.00003
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr) rs376023896 0.00003
NM_001458.5(FLNC):c.6538C>T (p.Arg2180Cys) rs779029827 0.00003
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg) rs751019991 0.00003
NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile) rs768941858 0.00003
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met) rs372172779 0.00003
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) rs778135776 0.00003
NM_001848.3(COL6A1):c.2480C>T (p.Pro827Leu) rs761774962 0.00003
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys) rs771987341 0.00003
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703 0.00003
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val) rs748917509 0.00003
NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His) rs759075251 0.00003
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00003
NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile) rs756017412 0.00003
NM_003919.3(SGCE):c.410G>A (p.Arg137His) rs548306335 0.00003
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) rs768233445 0.00003
NM_004006.3(DMD):c.2912A>T (p.Asp971Val) rs762154042 0.00003
NM_004006.3(DMD):c.4049G>A (p.Arg1350His) rs750981128 0.00003
NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp) rs376234802 0.00003
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp) rs755477994 0.00003
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys) rs774825173 0.00003
NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu) rs781748062 0.00003
NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys) rs779233737 0.00003
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln) rs140904592 0.00003
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp) rs768482972 0.00003
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) rs138111804 0.00003
NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys) rs775007929 0.00003
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp) rs142471722 0.00003
NM_014611.3(MDN1):c.9185A>G (p.Asn3062Ser) rs146744786 0.00003
NM_015465.5(GEMIN5):c.4496dup (p.Tyr1499Ter) rs868028669 0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly) rs868354713 0.00003
NM_020964.3(EPG5):c.1104C>T (p.Phe368=) rs562098384 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987 0.00003
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys) rs549182297 0.00003
NM_053025.4(MYLK):c.4838-3C>T rs776825316 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile) rs760824351 0.00003
NM_170784.3(MKKS):c.1161+4G>A rs761886025 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln) rs554186246 0.00003
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro) rs376518010 0.00003
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=) rs1020832262 0.00003
NM_198525.3(KIF7):c.1164C>T (p.Gly388=) rs975756878 0.00003
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser) rs782299720 0.00003
NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln) rs576252504 0.00003
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr) rs199995144 0.00003
NM_000022.4(ADA):c.941A>G (p.Asp314Gly) rs547569818 0.00002
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00002
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00002
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu) rs748021245 0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) rs373525085 0.00002
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys) rs750707504 0.00002
NM_000124.4(ERCC6):c.3095C>G (p.Pro1032Arg) rs775549101 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000222.3(KIT):c.829A>G (p.Ile277Val) rs757547974 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile) rs373231077 0.00002
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214 0.00002
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00002
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461 0.00002
NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr) rs372576669 0.00002
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020 0.00002
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp) rs538497899 0.00002
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val) rs181968345 0.00002
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys) rs748844266 0.00002
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=) rs765570755 0.00002
NM_000540.3(RYR1):c.1925+7C>T rs559157737 0.00002
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=) rs763113534 0.00002
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=) rs747434152 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183 0.00002
NM_001005361.3(DNM2):c.1196+677G>A rs763986985 0.00002
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216 0.00002
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658 0.00002
NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp) rs150993414 0.00002
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu) rs927607049 0.00002
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp) rs1466787506 0.00002
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser) rs1013412353 0.00002
NM_001164508.2(NEB):c.14755G>C (p.Ala4919Pro) rs1057523555 0.00002
NM_001164508.2(NEB):c.24645G>A (p.Val8215=) rs769610035 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=) rs371560611 0.00002
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679 0.00002
NM_001267550.2(TTN):c.101622C>T (p.Asn33874=) rs780835388 0.00002
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp) rs367926247 0.00002
NM_001267550.2(TTN):c.102965G>A (p.Ser34322Asn) rs763242057 0.00002
NM_001267550.2(TTN):c.103996C>G (p.Pro34666Ala) rs201240519 0.00002
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val) rs79666048 0.00002
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His) rs727504949 0.00002
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn) rs768211726 0.00002
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr) rs752150323 0.00002
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr) rs375417155 0.00002
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=) rs770260995 0.00002
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=) rs760724229 0.00002
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys) rs753136638 0.00002
NM_001267550.2(TTN):c.18542G>A (p.Arg6181Gln) rs201951252 0.00002
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=) rs201395913 0.00002
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val) rs761223583 0.00002
NM_001267550.2(TTN):c.2649C>T (p.Phe883=) rs775588479 0.00002
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu) rs781351100 0.00002
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu) rs72648995 0.00002
NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser) rs753121692 0.00002
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro) rs762662455 0.00002
NM_001267550.2(TTN):c.35365C>A (p.Pro11789Thr) rs752662529 0.00002
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys) rs761974767 0.00002
NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe) rs759268958 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.40989T>C (p.Ser13663=) rs369178648 0.00002
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys) rs754182768 0.00002
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr) rs377564388 0.00002
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val) rs371601918 0.00002
NM_001267550.2(TTN):c.49032G>A (p.Val16344=) rs587780980 0.00002
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys) rs779336886 0.00002
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro) rs764983586 0.00002
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser) rs749312983 0.00002
NM_001267550.2(TTN):c.54494G>A (p.Arg18165His) rs574313741 0.00002
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) rs201457934 0.00002
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys) rs770684884 0.00002
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr) rs376338324 0.00002
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly) rs748901968 0.00002
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) rs578085621 0.00002
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr) rs727505036 0.00002
NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr) rs765930349 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687 0.00002
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564 0.00002
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile) rs752648041 0.00002
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr) rs769320596 0.00002
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu) rs766741890 0.00002
NM_001267550.2(TTN):c.74413G>A (p.Val24805Ile) rs371306826 0.00002
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00002
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile) rs759432194 0.00002
NM_001267550.2(TTN):c.77471G>A (p.Arg25824His) rs376051922 0.00002
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr) rs368263400 0.00002
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp) rs749852593 0.00002
NM_001267550.2(TTN):c.85072A>T (p.Met28358Leu) rs368069666 0.00002
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg) rs532818379 0.00002
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile) rs727503551 0.00002
NM_001267550.2(TTN):c.90238G>A (p.Ala30080Thr) rs753375022 0.00002
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro) rs368516973 0.00002
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00002
NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala) rs756610221 0.00002
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met) rs760230943 0.00002
NM_001267550.2(TTN):c.94064C>T (p.Ala31355Val) rs370666551 0.00002
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln) rs763270971 0.00002
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met) rs760676361 0.00002
NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser) rs374521620 0.00002
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) rs777035261 0.00002
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp) rs1298830102 0.00002
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu) rs748092969 0.00002
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr) rs761093701 0.00002
NM_001375524.1(TRRAP):c.7630G>A (p.Ala2544Thr) rs1028234458 0.00002
NM_001378183.1(PIEZO2):c.6776T>C (p.Met2259Thr) rs780202686 0.00002
NM_001386125.1(OBSCN):c.3040A>T (p.Thr1014Ser) rs779774732 0.00002
NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile) rs201533113 0.00002
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile) rs759452636 0.00002
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser) rs778997084 0.00002
NM_001734.5(C1S):c.394A>G (p.Ile132Val) rs1198867920 0.00002
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser) rs201835072 0.00002
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser) rs868808195 0.00002
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys) rs753947676 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) rs929328527 0.00002
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg) rs752974260 0.00002
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr) rs754158494 0.00002
NM_004006.3(DMD):c.5942C>T (p.Thr1981Met) rs140575687 0.00002
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys) rs765207227 0.00002
NM_004281.4(BAG3):c.983T>C (p.Val328Ala) rs765627299 0.00002
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=) rs548519047 0.00002
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=) rs373281009 0.00002
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val) rs563813743 0.00002
NM_004614.5(TK2):c.548G>A (p.Arg183Gln) rs780333412 0.00002
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met) rs774586838 0.00002
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His) rs369452147 0.00002
NM_005529.7(HSPG2):c.6228G>A (p.Gly2076=) rs769398456 0.00002
NM_005609.4(PYGM):c.1881C>T (p.Ile627=) rs369361532 0.00002
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val) rs747534810 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=) rs765193793 0.00002
NM_006922.4(SCN3A):c.991C>A (p.Gln331Lys) rs771446983 0.00002
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113 0.00002
NM_007347.5(AP4E1):c.275A>G (p.Tyr92Cys) rs773401224 0.00002
NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala) rs566110160 0.00002
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=) rs747257110 0.00002
NM_014712.3(SETD1A):c.655C>T (p.Arg219Cys) rs373130363 0.00002
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=) rs1045333933 0.00002
NM_015459.5(ATL3):c.1500C>T (p.Gly500=) rs202227458 0.00002
NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr) rs538198742 0.00002
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp) rs747347699 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp) rs201085402 0.00002
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val) rs1003872402 0.00002
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser) rs1004363452 0.00002
NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=) rs761416400 0.00002
NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser) rs1014292464 0.00002
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His) rs757218098 0.00002
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_173495.3(PTCHD1):c.491G>A (p.Arg164Gln) rs908889815 0.00002
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00002
NM_182961.4(SYNE1):c.25119+3A>G rs1057521423 0.00002
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=) rs775375977 0.00002
NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn) rs782674838 0.00002
NM_201384.3(PLEC):c.1872C>T (p.Ala624=) rs782547448 0.00002
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys) rs377125427 0.00002
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp) rs782485083 0.00002
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=) rs764479854 0.00002
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) rs763375578 0.00001
NM_000023.4(SGCA):c.354G>A (p.Gln118=) rs772233387 0.00001
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr) rs782809184 0.00001
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys) rs774952444 0.00001
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser) rs80358401 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp) rs28897750 0.00001
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313 0.00001
NM_000062.3(SERPING1):c.640A>T (p.Thr214Ser) rs749484478 0.00001
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys) rs1473668614 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn) rs757755172 0.00001
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr) rs754146345 0.00001
NM_000092.5(COL4A4):c.4091-12T>C rs759175039 0.00001
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr) rs753339980 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.1970A>G (p.Gln657Arg) rs1459883720 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000228.3(LAMB3):c.1455G>A (p.Pro485=) rs1033335294 0.00001
NM_000249.4(MLH1):c.704A>T (p.Asp235Val) rs587781505 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His) rs200000290 0.00001
NM_000257.4(MYH7):c.4520-3C>T rs549509054 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937 0.00001
NM_000298.6(PKLR):c.1270-5T>G rs767981368 0.00001
NM_000334.4(SCN4A):c.786C>T (p.Ser262=) rs746749167 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) rs796053448 0.00001
NM_000419.5(ITGA2B):c.945+9C>A rs776521459 0.00001
NM_000426.4(LAMA2):c.2749+24C>A rs886038292 0.00001
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe) rs201175472 0.00001
NM_000455.5(STK11):c.817G>A (p.Ala273Thr) rs587782199 0.00001
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val) rs772566556 0.00001
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys) rs746611627 0.00001
NM_000540.3(RYR1):c.2361-4C>G rs753918895 0.00001
NM_000540.3(RYR1):c.5548-3T>C rs370111319 0.00001
NM_000540.3(RYR1):c.5955C>T (p.Ser1985=) rs1969490927 0.00001
NM_000540.3(RYR1):c.6027A>G (p.Leu2009=) rs2145564113 0.00001
NM_000540.3(RYR1):c.7896C>A (p.Ile2632=) rs201090618 0.00001
NM_000540.3(RYR1):c.8430G>A (p.Lys2810=) rs747388850 0.00001
NM_000540.3(RYR1):c.975C>T (p.Ala325=) rs751251863 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1754G>A (p.Arg585His) rs397515063 0.00001
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr) rs758301934 0.00001
NM_000548.5(TSC2):c.1945A>G (p.Met649Val) rs762331610 0.00001
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242 0.00001
NM_000548.5(TSC2):c.2553C>T (p.Ala851=) rs745687916 0.00001
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr) rs1555441265 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000642.3(AGL):c.1758T>C (p.Ser586=) rs1402386421 0.00001
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val) rs763372245 0.00001
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571 0.00001
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001039591.3(USP9X):c.90G>C (p.Gln30His) rs754357906 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001079802.2(FKTN):c.706A>G (p.Met236Val) rs886042241 0.00001
NM_001101426.4(CRPPA):c.395A>G (p.Asn132Ser) rs774324906 0.00001
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930 0.00001
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227 0.00001
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) rs143989769 0.00001
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys) rs1300877733 0.00001
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) rs535900273 0.00001
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu) rs748935741 0.00001
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr) rs1057523197 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044 0.00001
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val) rs200526162 0.00001
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys) rs765104792 0.00001
NM_001142864.4(PIEZO1):c.2207T>C (p.Leu736Pro) rs999049540 0.00001
NM_001142864.4(PIEZO1):c.4685G>A (p.Arg1562Lys) rs984713605 0.00001
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg) rs367636785 0.00001
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644 0.00001
NM_001164508.2(NEB):c.1258A>G (p.Lys420Glu) rs200298261 0.00001
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu) rs751680308 0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=) rs778083630 0.00001
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val) rs1266240114 0.00001
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054 0.00001
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=) rs1689333436 0.00001
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln) rs769477807 0.00001
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112 0.00001
NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=) rs1750312383 0.00001
NM_001194998.2(CEP152):c.2895A>G (p.Gln965=) rs1382711328 0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087 0.00001
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) rs943777958 0.00001
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=) rs794727543 0.00001
NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala) rs752582515 0.00001
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys) rs577667352 0.00001
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His) rs376029089 0.00001
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) rs770742837 0.00001
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His) rs762235688 0.00001
NM_001267550.2(TTN):c.104250T>C (p.His34750=) rs745463889 0.00001
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg) rs794729566 0.00001
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His) rs779484675 0.00001
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala) rs368779151 0.00001
NM_001267550.2(TTN):c.105360C>T (p.Thr35120=) rs904049980 0.00001
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His) rs768358201 0.00001
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly) rs370476812 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.107393C>T (p.Pro35798Leu) rs886038722 0.00001
NM_001267550.2(TTN):c.1099T>C (p.Ser367Pro) rs376015894 0.00001
NM_001267550.2(TTN):c.14950G>A (p.Val4984Met) rs903648091 0.00001
NM_001267550.2(TTN):c.15388G>A (p.Val5130Met) rs765530283 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile) rs727505221 0.00001
NM_001267550.2(TTN):c.18071A>G (p.Asn6024Ser) rs759852969 0.00001
NM_001267550.2(TTN):c.18586A>G (p.Lys6196Glu) rs756791385 0.00001
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=) rs727504776 0.00001
NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala) rs752107739 0.00001
NM_001267550.2(TTN):c.21947T>G (p.Leu7316Arg) rs745745237 0.00001
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359 0.00001
NM_001267550.2(TTN):c.22417G>A (p.Val7473Met) rs775242103 0.00001
NM_001267550.2(TTN):c.22511C>T (p.Ala7504Val) rs2529481421 0.00001
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln) rs757042397 0.00001
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp) rs768608500 0.00001
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn) rs377074955 0.00001
NM_001267550.2(TTN):c.26529G>A (p.Thr8843=) rs747558822 0.00001
NM_001267550.2(TTN):c.2707G>A (p.Gly903Arg) rs2092996974 0.00001
NM_001267550.2(TTN):c.27136C>T (p.Pro9046Ser) rs772800519 0.00001
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg) rs774924294 0.00001
NM_001267550.2(TTN):c.2766C>T (p.Arg922=) rs372617952 0.00001
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys) rs760466007 0.00001
NM_001267550.2(TTN):c.29999T>C (p.Leu10000Pro) rs768379279 0.00001
NM_001267550.2(TTN):c.30022A>G (p.Met10008Val) rs1553877757 0.00001
NM_001267550.2(TTN):c.30055T>G (p.Ser10019Ala) rs754368714 0.00001
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys) rs901197333 0.00001
NM_001267550.2(TTN):c.3169G>A (p.Val1057Ile) rs780035225 0.00001
NM_001267550.2(TTN):c.33127C>T (p.Pro11043Ser) rs746514747 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.35380A>G (p.Thr11794Ala) rs751454643 0.00001
NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu) rs777187629 0.00001
NM_001267550.2(TTN):c.41402G>A (p.Ser13801Asn) rs757590541 0.00001
NM_001267550.2(TTN):c.41439G>A (p.Arg13813=) rs370755303 0.00001
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His) rs374683153 0.00001
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.43604G>A (p.Arg14535His) rs764250397 0.00001
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584 0.00001
NM_001267550.2(TTN):c.45586G>A (p.Ala15196Thr) rs372872095 0.00001
NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr) rs752318420 0.00001
NM_001267550.2(TTN):c.47430T>C (p.Thr15810=) rs373878153 0.00001
NM_001267550.2(TTN):c.47481G>A (p.Gln15827=) rs752514306 0.00001
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu) rs727503623 0.00001
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr) rs749678590 0.00001
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) rs749438439 0.00001
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=) rs374138859 0.00001
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn) rs794729239 0.00001
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892 0.00001
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) rs397517607 0.00001
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn) rs397517609 0.00001
NM_001267550.2(TTN):c.54471A>T (p.Lys18157Asn) rs779495049 0.00001
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu) rs764568599 0.00001
NM_001267550.2(TTN):c.56747T>A (p.Val18916Glu) rs1296926879 0.00001
NM_001267550.2(TTN):c.58022G>A (p.Ser19341Asn) rs536645864 0.00001
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658 0.00001
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala) rs771977738 0.00001
NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn) rs375946418 0.00001
NM_001267550.2(TTN):c.62825A>G (p.Asn20942Ser) rs769163040 0.00001
NM_001267550.2(TTN):c.63834C>T (p.Val21278=) rs911870330 0.00001
NM_001267550.2(TTN):c.64253A>C (p.Tyr21418Ser) rs573165930 0.00001
NM_001267550.2(TTN):c.64642G>T (p.Asp21548Tyr) rs749070255 0.00001
NM_001267550.2(TTN):c.64968A>G (p.Pro21656=) rs376921740 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg) rs373636513 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.67280G>A (p.Arg22427Gln) rs770566210 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr) rs879119970 0.00001
NM_001267550.2(TTN):c.69508G>A (p.Glu23170Lys) rs1334543067 0.00001
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg) rs775589244 0.00001
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys) rs775743818 0.00001
NM_001267550.2(TTN):c.71667T>C (p.Ser23889=) rs756824434 0.00001
NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg) rs777244038 0.00001
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln) rs776673912 0.00001
NM_001267550.2(TTN):c.74860C>T (p.Leu24954Phe) rs202191466 0.00001
NM_001267550.2(TTN):c.75142T>C (p.Leu25048=) rs1034492140 0.00001
NM_001267550.2(TTN):c.75364G>A (p.Val25122Met) rs376821762 0.00001
NM_001267550.2(TTN):c.78000A>G (p.Thr26000=) rs1178033234 0.00001
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=) rs935809232 0.00001
NM_001267550.2(TTN):c.79855C>T (p.Arg26619Cys) rs757229467 0.00001
NM_001267550.2(TTN):c.80167C>T (p.Arg26723Cys) rs1412497882 0.00001
NM_001267550.2(TTN):c.80712A>G (p.Ile26904Met) rs773395582 0.00001
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met) rs748535477 0.00001
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr) rs769343491 0.00001
NM_001267550.2(TTN):c.84171A>G (p.Gly28057=) rs746728021 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.84892C>T (p.Arg28298Trp) rs779581886 0.00001
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr) rs397517733 0.00001
NM_001267550.2(TTN):c.864C>T (p.His288=) rs772543040 0.00001
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile) rs750591986 0.00001
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675 0.00001
NM_001267550.2(TTN):c.88735G>A (p.Val29579Ile) rs879204059 0.00001
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His) rs369279892 0.00001
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe) rs376494747 0.00001
NM_001267550.2(TTN):c.93603C>T (p.Phe31201=) rs765759269 0.00001
NM_001267550.2(TTN):c.94627A>G (p.Ile31543Val) rs771491701 0.00001
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys) rs774814532 0.00001
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys) rs776682000 0.00001
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln) rs369237346 0.00001
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg) rs373959972 0.00001
NM_001267550.2(TTN):c.97976A>T (p.Glu32659Val) rs747898161 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001271.4(CHD2):c.1503-5T>C rs1008040869 0.00001
NM_001324144.2(ZNF41):c.38C>T (p.Ala13Val) rs200972908 0.00001
NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg) rs1037521613 0.00001
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val) rs751979396 0.00001
NM_001347721.2(DYRK1A):c.300+7C>T rs537532878 0.00001
NM_001355436.2(SPTB):c.3154G>A (p.Gly1052Ser) rs768317667 0.00001
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu) rs1060499993 0.00001
NM_001375524.1(TRRAP):c.1133C>T (p.Thr378Met) rs782605085 0.00001
NM_001375524.1(TRRAP):c.6806A>G (p.Asn2269Ser) rs529639313 0.00001
NM_001376.5(DYNC1H1):c.4635C>T (p.Val1545=) rs1416911485 0.00001
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702 0.00001
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr) rs1422887607 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser) rs561470737 0.00001
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly) rs766541647 0.00001
NM_001429.4(EP300):c.6294A>G (p.Gln2098=) rs1190484549 0.00001
NM_001457.4(FLNB):c.1358A>G (p.Asn453Ser) rs754067988 0.00001
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln) rs141199483 0.00001
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp) rs369187211 0.00001
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His) rs1063262 0.00001
NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile) rs765388755 0.00001
NM_001605.3(AARS1):c.2521-5T>G rs1555539335 0.00001
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=) rs1474341500 0.00001
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys) rs886038496 0.00001
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu) rs760689529 0.00001
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile) rs1239154521 0.00001
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu) rs141178702 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_002397.5(MEF2C):c.480T>C (p.Pro160=) rs200518765 0.00001
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys) rs539740208 0.00001
NM_002473.6(MYH9):c.5854G>C (p.Asp1952His) rs1247127142 0.00001
NM_002693.3(POLG):c.116A>G (p.Gln39Arg) rs749750052 0.00001
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp) rs754246294 0.00001
NM_002834.5(PTPN11):c.849G>T (p.Leu283=) rs1380555031 0.00001
NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg) rs758565569 0.00001
NM_004006.3(DMD):c.243G>A (p.Leu81=) rs748842563 0.00001
NM_004006.3(DMD):c.2473T>G (p.Trp825Gly) rs769988372 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.7016A>G (p.His2339Arg) rs398124041 0.00001
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln) rs754308757 0.00001
NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg) rs778961643 0.00001
NM_004006.3(DMD):c.985T>A (p.Ser329Thr) rs756590471 0.00001
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile) rs949598599 0.00001
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531 0.00001
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=) rs375222168 0.00001
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile) rs371745862 0.00001
NM_004370.6(COL12A1):c.441C>T (p.Gly147=) rs370007721 0.00001
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met) rs768824483 0.00001
NM_004380.3(CREBBP):c.3250+4G>A rs1301154478 0.00001
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val) rs1010993658 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_005228.5(EGFR):c.3143C>T (p.Ala1048Val) rs78244461 0.00001
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser) rs749879411 0.00001
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser) rs782636507 0.00001
NM_005334.3(HCFC1):c.939A>G (p.Thr313=) rs782309363 0.00001
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His) rs527976707 0.00001
NM_005458.8(GABBR2):c.1924C>T (p.Arg642Cys) rs756391068 0.00001
NM_005458.8(GABBR2):c.25C>G (p.Gln9Glu) rs1026022583 0.00001
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=) rs540961117 0.00001
NM_005591.4(MRE11):c.1074A>G (p.Pro358=) rs876659934 0.00001
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) rs201078003 0.00001
NM_006017.3(PROM1):c.1320C>T (p.Val440=) rs765602610 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006516.4(SLC2A1):c.-2C>T rs587784388 0.00001
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val) rs776583130 0.00001
NM_006734.4(HIVEP2):c.6062G>A (p.Cys2021Tyr) rs749509886 0.00001
NM_006772.3(SYNGAP1):c.509+5A>C rs780314191 0.00001
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) rs727504026 0.00001
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala) rs868728039 0.00001
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys) rs577018955 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_007289.4(MME):c.1590G>A (p.Val530=) rs1209332250 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp) rs397507199 0.00001
NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val) rs139019562 0.00001
NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp) rs748070271 0.00001
NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys) rs745576236 0.00001
NM_013254.4(TBK1):c.2139-7G>A rs534404556 0.00001
NM_014141.6(CNTNAP2):c.3476-7C>T rs1057520468 0.00001
NM_014712.3(SETD1A):c.2928+3G>A rs1596681011 0.00001
NM_014727.3(KMT2B):c.449G>A (p.Arg150Gln) rs962331806 0.00001
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp) rs542793579 0.00001
NM_015046.7(SETX):c.6106+3dup rs1844639633 0.00001
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) rs1555604462 0.00001
NM_015559.3(SETBP1):c.3485G>A (p.Arg1162Gln) rs751046263 0.00001
NM_015559.3(SETBP1):c.3847G>C (p.Glu1283Gln) rs772299236 0.00001
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys) rs529367667 0.00001
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu) rs199966549 0.00001
NM_018026.4(PACS1):c.444+9G>A rs748523504 0.00001
NM_020433.5(JPH2):c.1674G>A (p.Pro558=) rs779915700 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_021830.5(TWNK):c.562G>A (p.Asp188Asn) rs146532064 0.00001
NM_022114.4(PRDM16):c.2067C>T (p.Ala689=) rs371813954 0.00001
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=) rs775363690 0.00001
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) rs757955092 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu) rs779286671 0.00001
NM_025114.4(CEP290):c.1554T>A (p.Thr518=) rs767529344 0.00001
NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=) rs1680670991 0.00001
NM_032119.4(ADGRV1):c.740C>T (p.Thr247Ile) rs375653808 0.00001
NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val) rs749620886 0.00001
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=) rs750562280 0.00001
NM_138576.4(BCL11B):c.1482C>T (p.Ala494=) rs765782024 0.00001
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=) rs573985690 0.00001
NM_139242.4(MTFMT):c.9G>A (p.Val3=) rs994088488 0.00001
NM_152263.4(TPM3):c.643-3C>T rs529845435 0.00001
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=) rs769646940 0.00001
NM_172362.3(KCNH1):c.2957T>C (p.Phe986Ser) rs770510070 0.00001
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln) rs764745147 0.00001
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=) rs758375991 0.00001
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=) rs757737346 0.00001
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys) rs558726483 0.00001
NM_201384.3(PLEC):c.1304C>T (p.Ala435Val) rs782509734 0.00001
NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln) rs376541112 0.00001
NM_201384.3(PLEC):c.6012G>C (p.Arg2004=) rs782708058 0.00001
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val) rs935096656 0.00001
NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu) rs782085661 0.00001
NM_212482.4(FN1):c.4141C>T (p.Pro1381Ser) rs754336717 0.00001
NM_212482.4(FN1):c.74G>A (p.Gly25Glu) rs778918483 0.00001
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) rs782701925
NM_000048.4(ASL):c.99C>G (p.His33Gln) rs142077823
NM_000057.4(BLM):c.2583T>C (p.Asn861=) rs1896651230
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val) rs431825352
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000070.3(CAPN3):c.468C>T (p.Ile156=) rs143942248
NM_000081.4(LYST):c.285T>C (p.Asp95=) rs747965676
NM_000081.4(LYST):c.345A>G (p.Gln115=) rs2527133215
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln) rs372691338
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.196-4_196-3del rs561184126
NM_000162.5(GCK):c.852C>G (p.Pro284=) rs145323719
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000179.3(MSH6):c.4052A>G (p.His1351Arg) rs1325140069
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu) rs762168786
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=) rs1413360004
NM_000232.5(SGCB):c.111C>T (p.Asn37=) rs2109376000
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000251.3(MSH2):c.27G>A (p.Leu9=) rs1553348705
NM_000251.3(MSH2):c.326A>G (p.Asn109Ser) rs749545338
NM_000251.3(MSH2):c.753G>A (p.Glu251=) rs1553351682
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000260.4(MYO7A):c.133_153dup
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000321.3(RB1):c.452T>A (p.Leu151Gln) rs2138087581
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000334.4(SCN4A):c.483-5C>T rs191547933
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln) rs145614671
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val) rs188677757
NM_000426.4(LAMA2):c.5074G>C (p.Val1692Leu) rs567613582
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser) rs878853986
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp) rs138986885
NM_000512.5(GALNS):c.177G>A (p.Leu59=) rs1967036891
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met) rs200144997
NM_000540.3(RYR1):c.10740G>A (p.Pro3580=) rs2514489025
NM_000540.3(RYR1):c.11325C>T (p.Ala3775=) rs1971892935
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_000540.3(RYR1):c.14559C>T (p.Thr4853=) rs570469685
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.8501C>G (p.Thr2834Arg) rs555470100
NM_000540.3(RYR1):c.8816+5_8816+6delinsAT rs2514371354
NM_000540.3(RYR1):c.9336G>A (p.Leu3112=) rs2514406217
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000733.4(CD3E):c.353-5C>A rs374456909
NM_001005361.3(DNM2):c.1546-18A>C rs1426762153
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile) rs758369264
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu) rs200219135
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val) rs375972545
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del) rs786203184
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs) rs748327666
NM_001102564.3(IFT43):c.296-5661G>A rs150373788
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) rs587783106
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001122630.2(CDKN1C):c.504CCCGGC[4] (p.168AP[9]) rs878853629
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6]) rs878853637
NM_001123385.2(BCOR):c.989C>T (p.Ala330Val) rs2520063904
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His) rs1064793075
NM_001128840.3(CACNA1D):c.2919-6C>T rs2473926499
NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=) rs775882768
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=) rs776968811
NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys) rs376337792
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001134407.3(GRIN2A):c.1777+6G>T rs76549675
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe) rs145495027
NM_001142864.4(PIEZO1):c.2697G>T (p.Thr899=) rs973943297
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) rs374262841
NM_001142864.4(PIEZO1):c.3988G>A (p.Ala1330Thr) rs866681472
NM_001142864.4(PIEZO1):c.463C>T (p.Leu155=) rs192176652
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe) rs764374591
NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu) rs370589003
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser) rs2542982542
NM_001148.6(ANK2):c.9991T>C (p.Ser3331Pro) rs1168752344
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn) rs746834335
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) rs199995527
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro) rs201072996
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001171038.2(ASMT):c.51C>A (p.Asn17Lys) rs17149149
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer) rs778073001
NM_001193369.2(DIDO1):c.468C>T (p.Ser156=) rs765566169
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.103958G>A (p.Arg34653His) rs72629786
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp) rs372875128
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105790G>A (p.Val35264Ile) rs770730954
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly) rs555476312
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile) rs1575169924
NM_001267550.2(TTN):c.15553G>A (p.Val5185Ile) rs370535651
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.20999A>G (p.Asn7000Ser) rs764035021
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=) rs149523263
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.2423G>A (p.Arg808His) rs1423076539
NM_001267550.2(TTN):c.25476T>C (p.Asp8492=) rs777349143
NM_001267550.2(TTN):c.2744G>A (p.Arg915His) rs376922544
NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val) rs533172128
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.31660G>A (p.Glu10554Lys) rs1352006092
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln) rs181395238
NM_001267550.2(TTN):c.33206C>T (p.Pro11069Leu) rs1577342347
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del) rs368327166
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3]) rs397517548
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser) rs115825044
NM_001267550.2(TTN):c.43717A>T (p.Met14573Leu) rs755610701
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu) rs373298007
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn) rs747654057
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met) rs367560855
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del) rs561618839
NM_001267550.2(TTN):c.53150G>A (p.Arg17717His) rs757018821
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser) rs531242797
NM_001267550.2(TTN):c.55616T>C (p.Val18539Ala) rs573082979
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=) rs551538420
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=) rs375403059
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile) rs200778464
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.59442A>G (p.Pro19814=) rs1304742332
NM_001267550.2(TTN):c.61483C>G (p.Arg20495Gly) rs370128504
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn) rs558727238
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.65380G>A (p.Val21794Ile) rs373848128
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys) rs763729258
NM_001267550.2(TTN):c.66787C>T (p.Leu22263Phe) rs540425352
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=) rs372799151
NM_001267550.2(TTN):c.70885A>G (p.Met23629Val) rs988918025
NM_001267550.2(TTN):c.71268T>C (p.Gly23756=) rs1709508227
NM_001267550.2(TTN):c.71305A>G (p.Thr23769Ala) rs776889753
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys) rs750298083
NM_001267550.2(TTN):c.74262A>G (p.Val24754=) rs745865847
NM_001267550.2(TTN):c.7595-7del rs774519095
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) rs368038362
NM_001267550.2(TTN):c.7876C>T (p.Leu2626Phe) rs944728845
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn) rs886044012
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) rs3731746
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln) rs201091376
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) rs199726308
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met) rs55933739
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu) rs371788070
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr) rs56330345
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe) rs794729519
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr) rs767890385
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr) rs879126335
NM_001267550.2(TTN):c.91808A>G (p.Asn30603Ser) rs794729533
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.94282C>G (p.Arg31428Gly) rs190282707
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.98893G>A (p.Asp32965Asn) rs186405108
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp) rs377598016
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp) rs776113114
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile) rs761860129
NM_001312909.2(FAM111A):c.1515dup (p.Ala506fs) rs762116864
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=) rs200333632
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) rs771923409
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) rs202020443
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu) rs548265796
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp) rs747830413
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln) rs775267651
NM_001376571.1(MADD):c.4887G>T (p.Ser1629=) rs184207033
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) rs767521281
NM_001378418.1(TCF20):c.2518C>G (p.Pro840Ala) rs1921140611
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=) rs1322586390
NM_001385012.1(NBEA):c.2924A>G (p.Lys975Arg) rs2503622228
NM_001457.4(FLNB):c.1711G>A (p.Val571Met) rs760127618
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn) rs375414341
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly) rs573899913
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln) rs769106207
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln) rs767794768
NM_001611.5(ACP5):c.766G>C (p.Val256Leu) rs146196342
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu) rs138718997
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile) rs542856213
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001958.5(EEF1A2):c.1029+3G>T rs111392970
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002693.3(POLG):c.1251-5C>T rs199621975
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup) rs760135553
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp) rs775268017
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del) rs113070757
NM_003126.4(SPTA1):c.121C>A (p.Arg41=) rs121918640
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro) rs200829664
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.678+7T>C rs1654731473
NM_003322.6(TULP1):c.1266C>T (p.Thr422=) rs747534563
NM_003331.5(TYK2):c.789C>T (p.Leu263=) rs761512367
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln) rs200152314
NM_003742.4(ABCB11):c.585G>C (p.Val195=) rs11568365
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) rs752074255
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile) rs1025829736
NM_004006.3(DMD):c.*479CA[6] rs763028610
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004006.3(DMD):c.3649C>G (p.Leu1217Val) rs886042839
NM_004006.3(DMD):c.3668G>C (p.Ser1223Thr) rs2098315075
NM_004006.3(DMD):c.3696A>G (p.Ala1232=) rs369971712
NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu) rs1603632326
NM_004006.3(DMD):c.76A>G (p.Asn26Asp) rs1057521321
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln) rs371588290
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly) rs572038196
NM_004281.4(BAG3):c.534C>G (p.Asp178Glu) rs1847160690
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del) rs772003652
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004655.4(AXIN2):c.629T>C (p.Met210Thr) rs529954883
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del) rs776606194
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr) rs764306025
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu) rs1177916529
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala) rs1465463508
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del) rs1353930135
NM_005188.4(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.4(CBL):c.1470A>G (p.Gln490=) rs1949969576
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005458.8(GABBR2):c.240C>A (p.Ala80=) rs753673862
NM_005458.8(GABBR2):c.33GCC[7] (p.Pro20dup) rs751111546
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.8609G>A (p.Arg2870Gln) rs111846397
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_006231.4(POLE):c.1707C>G (p.Phe569Leu) rs147438050
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006734.4(HIVEP2):c.272C>T (p.Pro91Leu) rs2482857854
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr) rs200651017
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser) rs1561789701
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006949.4(STXBP2):c.1538+12G>C rs748313252
NM_007118.4(TRIO):c.6877GGC[7] (p.Gly2298dup) rs749785358
NM_007118.4(TRIO):c.7136C>G (p.Pro2379Arg) rs781081298
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007215.4(POLG2):c.417A>G (p.Leu139=) rs1555669550
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln) rs146465073
NM_012233.3(RAB3GAP1):c.2800C>T (p.Pro934Ser) rs77535003
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu) rs1294714307
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly) rs540745201
NM_014727.3(KMT2B):c.1790C>T (p.Pro597Leu) rs749549494
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del) rs730881214
NM_014855.3(AP5Z1):c.969+3_969+6dup rs748280348
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_015330.6(SPECC1L):c.362C>T (p.Ser121Phe) rs575022840
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp) rs2499932052
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu) rs2484682116
NM_016032.4(ZDHHC9):c.718G>C (p.Val240Leu) rs770589013
NM_016213.5(TRIP4):c.1387C>A (p.His463Asn) rs375004645
NM_016335.6(PRODH):c.850-10A>G rs535186636
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766
NM_018451.5(CPAP):c.568+7T>G rs1258929370
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_019032.6(ADAMTSL4):c.426G>A (p.Ala142=) rs771709345
NM_019888.3(MC3R):c.429C>G (p.Tyr143Ter) rs148382606
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del) rs770747626
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg) rs372298555
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020928.2(ZSWIM6):c.151GCG[8] (p.Ala55_Ala56dup) rs779283808
NM_020928.2(ZSWIM6):c.83GCG[8] (p.Gly32_Gly33dup) rs528020839
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del) rs765421461
NM_020975.6(RET):c.1146G>A (p.Gln382=) rs770637118
NM_020988.3(GNAO1):c.904G>A (p.Ala302Thr) rs2143704776
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup) rs747975797
NM_021075.4(NDUFV3):c.11C>G (p.Pro4Arg) rs77606940
NM_022042.4(SLC26A1):c.213C>A (p.Gly71=) rs371616275
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) rs762121901
NM_024757.5(EHMT1):c.324C>G (p.His108Gln) rs574402576
NM_030632.3(ASXL3):c.6078_6083del (p.Pro2027_Pro2028del) rs1235588816
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu) rs200595389
NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del) rs760683509
NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3]) rs1447722708
NM_031483.7(ITCH):c.957A>G (p.Leu319=) rs2515681435
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.404C>G (p.Ala135Gly) rs141983653
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr) rs372806452
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del) rs387906492
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr) rs201409113
NM_152383.5(DIS3L2):c.780A>G (p.Glu260=) rs2106355380
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) rs769962713
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr) rs374537813
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp) rs543547663
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del) rs751691446
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala) rs140676416
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly) rs200503488
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.393A>C (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly) rs566004273
NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del) rs769494139
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His) rs33949390
NM_201384.3(PLEC):c.3676G>A (p.Ala1226Thr) rs782539707
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln) rs782213742
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) rs886044784
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys) rs201402970
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser) rs541022183

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