ClinVar Miner

List of variants reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 24448
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_001105206.3(LAMA4):c.849= (p.Asp283=) rs9387061 0.99999
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_001941.5(DSC3):c.155-1= rs276936 0.99994
NM_145728.3(SYNM):c.703dup (p.Glu235fs) rs60530833 0.99981
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_001267550.2(TTN):c.10726= (p.Thr3576=) rs6433728 0.99876
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_004985.5(KRAS):c.451-5617= rs4362222 0.99825
NM_020297.4(ABCC9):c.2199-11= rs697250 0.99814
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_203447.4(DOCK8):c.4491T>C (p.Phe1497=) rs7854035 0.99726
NM_001322934.2(NFKB2):c.1821A>G (p.Ala607=) rs4919634 0.99720
NM_001191016.2(CASP12):c.817+1A>G rs513131 0.99701
NM_020297.4(ABCC9):c.1296= (p.Pro432=) rs10770865 0.99692
NM_001270974.2(HYDIN):c.7364C>A (p.Pro2455Gln) rs1798531 0.99691
NM_001709.5(BDNF):c.450= (p.Ala150=) rs2353512 0.99637
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333 0.99572
NM_001379180.1(ESRRB):c.948T>C (p.Tyr316=) rs2361293 0.99538
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=) rs2955379 0.99481
NM_015404.4(WHRN):c.2256= (p.Gln752=) rs6478078 0.99456
NM_145038.5(DRC1):c.1824= (p.Glu608=) rs1402962 0.99433
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_001242.5(CD27):c.698A>G (p.His233Arg) rs2532502 0.99370
NM_003283.6(TNNT1):c.795= (p.Arg265=) rs890868 0.99361
NM_001103.4(ACTN2):c.351T>C (p.Ile117=) rs1341864 0.99334
NM_052964.4(CLNK):c.1083A>C (p.Ile361=) rs2903960 0.99293
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=) rs6963535 0.99232
NM_001458.5(FLNC):c.4404T>C (p.Asp1468=) rs2249128 0.99086
NM_000669.5(ADH1C):c.232= (p.Gly78=) rs283413 0.99065
NM_020297.4(ABCC9):c.1164+11= rs4762720 0.98998
NM_014665.4(LRRC14):c.73T>C (p.Leu25=) rs2721172 0.98937
NM_001322934.2(NFKB2):c.1269A>G (p.Pro423=) rs4919633 0.98899
NM_032272.5(MAF1):c.60T>C (p.Thr20=) rs11136256 0.98785
NM_017950.4(CCDC40):c.207G>C (p.Val69=) rs2289527 0.98631
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_000246.4(CIITA):c.520= (p.Gly174=) rs8046121 0.98494
NM_000022.4(ADA):c.36G>A (p.Val12=) rs394105 0.98470
NM_174858.3(AK5):c.609= (p.Lys203=) rs1167206 0.98455
NM_032578.4(MYPN):c.2886T>C (p.Val962=) rs10733838 0.98443
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_002234.4(KCNA5):c.1149T>C (p.Gly383=) rs2359641 0.98412
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=) rs2562831 0.98238
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=) rs2742348 0.98231
NM_006393.3(NEBL):c.1008+5A>G rs703089 0.98186
NM_015404.4(WHRN):c.1091= (p.His364=) rs10817610 0.98173
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_024503.5(HIVEP3):c.3657G>A (p.Gln1219=) rs2810565 0.97940
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala) rs169547 0.97902
NM_144585.4(SLC22A12):c.1248A>G (p.Ala416=) rs1630320 0.97810
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly) rs1529927 0.97710
NM_001025603.2(RFX5):c.753C>T (p.Leu251=) rs1752386 0.97700
NM_020549.5(CHAT):c.-10T>G rs7923716 0.97663
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97643
NM_001370259.2(MEN1):c.1299T>C (p.His433=) rs540012 0.97595
NM_001080467.3(MYO5B):c.376A>G (p.Thr126Ala) rs1815930 0.97586
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212 0.97529
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) rs2131107 0.97526
NM_133379.5(TTN):c.11196G>C (p.Leu3732Phe) rs922985 0.97449
NM_133379.5(TTN):c.12175T>C (p.Leu4059=) rs10803917 0.97441
NM_133379.5(TTN):c.11133A>G (p.Thr3711=) rs922986 0.97439
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=) rs4894043 0.97302
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) rs710181 0.97278
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_000773.4(CYP2E1):c.963= (p.Ile321=) rs915909 0.96990
NM_001134363.3(RBM20):c.3452-9= rs7070640 0.96872
NM_024503.5(HIVEP3):c.7015A>G (p.Thr2339Ala) rs9439043 0.96854
NM_001039141.3(TRIOBP):c.4129T>C (p.Trp1377Arg) rs8140958 0.96815
NM_130849.4(SLC39A4):c.751= (p.Arg251=) rs2977838 0.96739
NM_002246.3(KCNK3):c.*13G>A rs1663002 0.96678
NM_001370.2(DNAH6):c.6372A>G (p.Leu2124=) rs1881095 0.96600
NM_000505.4(F12):c.619G>C (p.Ala207Pro) rs17876030 0.96534
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=) rs1873778 0.96449
NM_001378609.3(OTOGL):c.3729G>A (p.Pro1243=) rs10778725 0.96377
NM_018897.3(DNAH7):c.9956T>C (p.Leu3319Pro) rs13411834 0.96325
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=) rs707189 0.96110
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=) rs2685301 0.95962
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=) rs2797441 0.95950
NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=) rs8092336 0.95903
NM_001191016.3(CASP12):c.373C>T (p.Arg125Ter) rs497116 0.95649
NM_001039876.3(SYNE4):c.834G>C (p.Gln278His) rs2285422 0.95594
NM_024503.5(HIVEP3):c.1437C>T (p.Ser479=) rs2984694 0.95424
NM_024503.5(HIVEP3):c.1329G>C (p.Leu443=) rs2475842 0.95423
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462 0.95374
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln) rs1800280 0.95243
NM_002421.4(MMP1):c.648A>G (p.Ala216=) rs470558 0.95219
NM_173628.4(DNAH17):c.11858A>G (p.His3953Arg) rs12941494 0.95067
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_001378609.3(OTOGL):c.6456G>A (p.Thr2152=) rs2717482 0.94876
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692 0.94841
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519 0.94826
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94745
NM_173628.4(DNAH17):c.1770A>G (p.Lys590=) rs894966 0.94663
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) rs4536 0.94662
NM_001256545.2(MEGF10):c.1114C>T (p.Leu372=) rs31483 0.94572
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) rs2738787 0.94528
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358 0.94358
NM_006254.4(PRKCD):c.1857T>C (p.Pro619=) rs900495 0.94337
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94227
NM_001378609.3(OTOGL):c.6247A>G (p.Ile2083Val) rs2034528 0.94158
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=) rs1075865 0.93819
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_003002.4(SDHD):c.*613T>C rs693441 0.93280
NM_145045.5(ODAD3):c.366+7= rs34094 0.93215
NM_001370.2(DNAH6):c.421G>A (p.Val141Met) rs4832089 0.93059
NM_001103.4(ACTN2):c.378C>T (p.Asn126=) rs1341863 0.93032
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_001243133.2(NLRP3):c.780A>G (p.Arg260=) rs4925543 0.92770
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_001013703.4(EIF2AK4):c.4562-8G>T rs2250402 0.92552
NM_012203.2(GRHPR):c.288-11C>T rs2736664 0.92549
NM_001322934.2(NFKB2):c.662-11C>T rs4919632 0.92540
NM_001370.2(DNAH6):c.1818C>A (p.Ala606=) rs11891970 0.92484
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450 0.92386
NM_000478.6(ALPL):c.330T>C (p.Ser110=) rs1780316 0.92311
NM_017886.4(ULK4):c.1599A>G (p.Val533=) rs1716687 0.92280
NM_017886.4(ULK4):c.1349-5C>G rs1717005 0.92252
NM_017886.4(ULK4):c.1288-9A>T rs1625226 0.92191
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_001350197.2(EVI5):c.1737A>G (p.Gln579=) rs7514716 0.91872
NM_001350197.2(EVI5):c.874A>G (p.Ile292Val) rs2391199 0.91872
NM_001323572.2(CCP110):c.756C>G (p.Ile252Met) rs226891 0.91837
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_001370.2(DNAH6):c.786G>A (p.Leu262=) rs1037863 0.91739
NM_001013703.4(EIF2AK4):c.1667A>G (p.Glu556Gly) rs2307105 0.91697
NM_053025.4(MYLK):c.1804+8C>T rs820355 0.91605
NM_001130987.2(DYSF):c.5885-16T>C rs1863812 0.91575
NM_080424.4(SP110):c.334T>C (p.Trp112Arg) rs1129411 0.91532
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_052934.4(SLC26A9):c.2055+15A>G rs12759719 0.91106
NM_000023.4(SGCA):c.*6T>C rs2696288 0.91073
NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu) rs334773 0.90803
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_001013703.4(EIF2AK4):c.99T>C (p.Ile33=) rs566792 0.90627
NM_001372106.1(DNAH10):c.842-16A>G rs11057354 0.90499
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_004655.4(AXIN2):c.1365A>G (p.Pro455=) rs9915936 0.90382
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_003134.6(SRP14):c.370C>G (p.Pro124Ala) rs7535 0.89996
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala) rs2959656 0.89377
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro) rs870124 0.89071
NM_000901.5(NR3C2):c.1497T>C (p.Asp499=) rs5525 0.88975
NM_000901.5(NR3C2):c.538G>A (p.Val180Ile) rs5522 0.88922
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_000452.3(SLC10A2):c.511T>G (p.Ser171Ala) rs188096 0.88630
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_000085.5(CLCNKB):c.492G>C (p.Gly164=) rs2014562 0.88578
NM_001177316.2(SLC34A3):c.1538A>T (p.Glu513Val) rs28542318 0.88574
NM_006424.3(SLC34A2):c.1901A>G (p.Asp634Gly) rs6448389 0.88574
NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu) rs17617 0.88540
NM_004304.5(ALK):c.27C>G (p.Leu9=) rs4358080 0.88526
NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr) rs5253 0.88476
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) rs762679 0.88261
NM_001077365.2(POMT1):c.699+53A>G rs2296949 0.88248
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814 0.87820
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn) rs2291310 0.87769
NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=) rs149532 0.87571
NM_015340.4(LARS2):c.2358A>G (p.Val786=) rs267220 0.87505
NM_001267550.2(TTN):c.11252G>A (p.Gly3751Asp) rs7585334 0.87436
NM_017886.4(ULK4):c.1918T>G (p.Ser640Ala) rs4973986 0.87400
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met) rs2291311 0.87338
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355 0.87079
NM_198282.4(STING1):c.695A>G (p.His232Arg) rs1131769 0.87015
NM_001145809.2(MYH14):c.3033+11T>C rs930086 0.86981
NM_173628.4(DNAH17):c.5956A>G (p.Met1986Val) rs691652 0.86865
NM_173628.4(DNAH17):c.5171G>A (p.Arg1724Lys) rs930571 0.86857
NM_080424.4(SP110):c.1274T>C (p.Leu425Ser) rs3948464 0.86768
NM_000631.5(NCF4):c.758+57T>C rs2075939 0.86715
NM_020433.5(JPH2):c.156C>T (p.Tyr52=) rs1883790 0.86681
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_173628.4(DNAH17):c.5535T>C (p.Pro1845=) rs2028734 0.86600
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006 0.86482
NM_152327.5(AK7):c.1167C>G (p.Asn389Lys) rs2369679 0.86429
NM_173628.4(DNAH17):c.5955C>G (p.Leu1985=) rs606944 0.86342
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_000517.4(HBA2):c.*136A>G rs2685121 0.86184
NM_000715.4(C4BPA):c.675T>C (p.Gly225=) rs1126618 0.86123
NM_024662.3(NAT10):c.1686C>T (p.Pro562=) rs2957518 0.86103
NM_015340.4(LARS2):c.2169T>C (p.Ala723=) rs2170549 0.85995
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85831
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458 0.85807
NM_030974.4(SHARPIN):c.201+10G>A rs12549149 0.85774
NM_030974.4(SHARPIN):c.154C>A (p.Arg52=) rs11136254 0.85766
NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln) rs1043730 0.85701
NM_144687.4(NLRP12):c.2394G>A (p.Gln798=) rs4806773 0.85135
NM_000603.5(NOS3):c.2984+15A>G rs891512 0.85115
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857 0.84982
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273 0.84980
NM_003661.4(APOL1):c.960G>A (p.Arg320=) rs136177 0.84806
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_001350197.2(EVI5):c.2340T>C (p.Gly780=) rs6603979 0.84796
NM_006073.4(TRDN):c.601C>G (p.Leu201Val) rs6902416 0.84721
NM_005263.5(GFI1):c.465C>T (p.Cys155=) rs11164605 0.84576
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081 0.84113
NM_014339.7(IL17RA):c.-8G>C rs917865 0.84062
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_020975.6(RET):c.3187+47T>C rs2075912 0.84041
NM_001378609.3(OTOGL):c.5545A>G (p.Ile1849Val) rs7297767 0.83814
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_197947.3(CLEC7A):c.*2A>G rs7959451 0.83436
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser) rs3732413 0.83326
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_001364905.1(LRBA):c.4569+9C>T rs186080 0.83135
NM_017802.4(DNAAF5):c.1257+13A>G rs34761279 0.83091
NM_004963.4(GUCY2C):c.2022C>T (p.Ile674=) rs10772800 0.83038
NM_004890.3(SPAG7):c.328-4T>C rs238224 0.83021
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_000085.5(CLCNKB):c.642A>C (p.Ala214=) rs1889790 0.82868
NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg) rs1950902 0.82707
NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val) rs7367494 0.82537
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82309
NM_007166.4(PICALM):c.522G>A (p.Gln174=) rs592297 0.82244
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_003803.4(MYOM1):c.4069+13C>A rs948298 0.82097
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=) rs807022 0.81877
NM_014339.7(IL17RA):c.932-10C>T rs2241046 0.81871
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293 0.81820
NM_002471.4(MYH6):c.800-11A>G rs434273 0.81807
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789 0.81589
NM_001104631.2(PDE4D):c.1287+6G>A rs1553114 0.81559
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_144651.5(PXDNL):c.2941A>G (p.Met981Val) rs2977020 0.81523
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr) rs807023 0.81454
NM_002458.3(MUC5B):c.9850A>G (p.Thr3284Ala) rs2943531 0.81397
NM_144651.5(PXDNL):c.1128C>T (p.His376=) rs6473599 0.81315
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_152393.4(KLHL40):c.1849T>C (p.Cys617Arg) rs123509 0.81037
NM_001370.2(DNAH6):c.873C>T (p.Ser291=) rs1542477 0.80860
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_001367479.1(DNAH14):c.2482C>G (p.Leu828Val) rs3105559 0.80756
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_001367479.1(DNAH14):c.3032G>A (p.Arg1011Gln) rs3128652 0.80597
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_006912.6(RIT1):c.-21G>C rs493446 0.80472
NM_001367292.2(LGALS9B):c.17C>G (p.Ser6Cys) rs4985834 0.80460
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_133379.5(TTN):c.11240A>G (p.Asp3747Gly) rs922984 0.80230
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_000791.4(DHFR):c.-473T>C rs1650697 0.80068
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_020877.5(DNAH2):c.5265C>G (p.Val1755=) rs7359662 0.79964
NM_001122681.2(SH3BP2):c.300T>C (p.His100=) rs3213501 0.79911
NM_001250.6(CD40):c.-1T>C rs1883832 0.79882
NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala) rs10224537 0.79851
NM_176787.5(PIGN):c.685C>G (p.His229Asp) rs9320001 0.79552
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.79547
NM_006929.5(SKIC2):c.3201T>C (p.Tyr1067=) rs410851 0.79487
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_004304.5(ALK):c.1500A>G (p.Gln500=) rs2293564 0.79300
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_001367479.1(DNAH14):c.3330G>T (p.Met1110Ile) rs3128658 0.79258
NM_001367479.1(DNAH14):c.3029A>G (p.Lys1010Arg) rs3128651 0.79192
NM_001367479.1(DNAH14):c.1560C>T (p.Cys520=) rs2501107 0.79167
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777 0.79149
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr) rs7349185 0.78899
NM_016239.4(MYO15A):c.10431T>C (p.Tyr3477=) rs854800 0.78890
NM_001277115.2(DNAH11):c.3630G>A (p.Gln1210=) rs3827657 0.78845
NM_006846.4(SPINK5):c.2667-13A>T rs2052537 0.78792
NM_015340.4(LARS2):c.1053T>C (p.Leu351=) rs7610357 0.78771
NM_015340.4(LARS2):c.1455G>A (p.Ala485=) rs2128361 0.78756
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_005631.5(SMO):c.1164G>C (p.Gly388=) rs2228617 0.78614
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_002029.4(FPR1):c.32T>C (p.Ile11Thr) rs5030878 0.78476
NM_017415.3(KLHL3):c.471A>G (p.Ala157=) rs2905608 0.78307
NM_000367.5(TPMT):c.474C>T (p.Ile158=) rs2842934 0.78250
NM_001145809.2(MYH14):c.5678+12C>T rs3826772 0.78229
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_006929.5(SKIC2):c.640A>C (p.Met214Leu) rs437179 0.77931
NM_080680.3(COL11A2):c.3150+15A>C rs2855436 0.77853
NM_001378373.1(MBL2):c.378C>G (p.Leu126=) rs930507 0.77778
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_016616.5(NME8):c.622T>C (p.Cys208Arg) rs10250905 0.77615
NM_178425.4(HDAC9):c.3022+17C>T rs2389998 0.77608
NM_173628.4(DNAH17):c.2547A>G (p.Leu849=) rs7221209 0.77600
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428 0.77489
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr) rs1979370 0.77449
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669 0.77323
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458 0.77314
NM_001105206.3(LAMA4):c.3283-15C>T rs2032568 0.77184
NM_015541.3(LRIG1):c.70C>G (p.Leu24Val) rs1403626 0.77161
NM_005534.4(IFNGR2):c.561+11C>G rs11910627 0.77154
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_001105206.3(LAMA4):c.3349G>A (p.Gly1117Ser) rs2032567 0.77036
NM_032229.3(SLITRK6):c.1524G>A (p.Leu508=) rs3825413 0.76936
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_001292063.2(OTOG):c.4087G>C (p.Ala1363Pro) rs7934079 0.76845
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_000395.3(CSF2RB):c.1944A>G (p.Pro648=) rs131840 0.76677
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_021803.4(IL21):c.234C>T (p.Cys78=) rs4833837 0.76501
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_016239.4(MYO15A):c.5826-12A>C rs854778 0.76256
NM_017802.4(DNAAF5):c.906-4T>G rs6943337 0.76245
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_005422.4(TECTA):c.1485A>G (p.Ala495=) rs536069 0.76077
NM_000603.5(NOS3):c.774T>C (p.Asp258=) rs1549758 0.75948
NM_004281.4(BAG3):c.1296A>G (p.Val432=) rs196295 0.75935
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_001039.4(SCNN1G):c.1176+14A>G rs5740 0.75623
NM_015541.3(LRIG1):c.76C>G (p.Leu26Val) rs1403625 0.75533
NM_001015878.2(AURKC):c.-128C>T rs58264281 0.75512
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=) rs2306574 0.75510
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_001556.3(IKBKB):c.1240+14A>T rs2294100 0.75434
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_001375567.1(FOCAD):c.5002A>G (p.Lys1668Glu) rs4977881 0.75263
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576 0.75229
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566 0.75216
NM_024867.4(SPEF2):c.2800G>C (p.Ala934Pro) rs13170390 0.75205
NM_024867.4(SPEF2):c.2711C>T (p.Ala904Val) rs13170082 0.75201
NM_001097.3(ACR):c.566-4A>G rs6009961 0.75146
NM_001164462.2(MUC12):c.13695C>T (p.Ser4565=) rs79635145 0.75117
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_000465.4(BARD1):c.1518T>C (p.His506=) rs2070093 0.74904
NM_001291303.3(FAT4):c.2944T>C (p.Leu982=) rs2940779 0.74871
NM_001291303.3(FAT4):c.14604A>G (p.Arg4868=) rs1014866 0.74715
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_001145809.2(MYH14):c.2250A>G (p.Pro750=) rs1651553 0.74436
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720 0.74285
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_182972.3(IRF2BP2):c.232T>C (p.Ser78Pro) rs7545855 0.74265
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_014000.3(VCL):c.2814C>G (p.Gly938=) rs2131956 0.74148
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_001372106.1(DNAH10):c.1621A>G (p.Ile541Val) rs10846559 0.74059
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_020451.3(SELENON):c.1173T>C (p.Pro391=) rs760597 0.73933
NM_001291303.3(FAT4):c.4305C>T (p.Ile1435=) rs2710555 0.73896
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=) rs586473 0.73877
NM_001372.4(DNAH9):c.6330C>T (p.Asn2110=) rs3744578 0.73791
NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=) rs2877561 0.73781
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_001558.4(IL10RA):c.1051A>G (p.Arg351Gly) rs2229113 0.73756
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_022124.6(CDH23):c.429+13G>A rs3802719 0.73455
NM_000773.4(CYP2E1):c.1263= (p.Phe421=) rs2515641 0.73370
NM_182916.3(TRNT1):c.948A>G (p.Ala316=) rs1705805 0.73295
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_002458.3(MUC5B):c.6581T>C (p.Met2194Thr) rs2943502 0.73017
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_018897.3(DNAH7):c.398+9T>C rs4850381 0.72994
NM_001367479.1(DNAH14):c.12319-5C>T rs10915816 0.72981
NM_002661.5(PLCG2):c.1497C>T (p.Ala499=) rs1143689 0.72851
NM_002458.3(MUC5B):c.6713T>C (p.Leu2238Pro) rs4963031 0.72794
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_001211.6(BUB1B):c.1046G>A (p.Arg349Gln) rs1801376 0.72576
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_182919.4(TICAM1):c.12A>G (p.Thr4=) rs7255265 0.72359
NM_002296.4(LBR):c.461G>A (p.Ser154Asn) rs2230419 0.72194
NM_001277115.2(DNAH11):c.11298T>C (p.His3766=) rs4722067 0.72158
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077 0.71974
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_020859.4(SHROOM3):c.836G>C (p.Gly279Ala) rs344140 0.71786
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274 0.71772
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607 0.71598
NM_174858.3(AK5):c.1621-3T>C rs6675743 0.71574
NM_080424.4(SP110):c.895G>A (p.Gly299Arg) rs1365776 0.71538
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_001492.6(GDF1):c.-1107C>G rs3746263 0.71463
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_003019.5(SFTPD):c.538A>G (p.Thr180Ala) rs2243639 0.71180
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001378609.3(OTOGL):c.7047G>A (p.Thr2349=) rs2717477 0.70953
NM_018897.3(DNAH7):c.1152G>A (p.Thr384=) rs6434811 0.70848
NM_000486.6(AQP2):c.501T>C (p.Ser167=) rs426496 0.70780
NM_002249.6(KCNN3):c.1047T>C (p.Asn349=) rs1131820 0.70698
NM_006734.4(HIVEP2):c.6885A>G (p.Pro2295=) rs169098 0.70641
NM_001378609.3(OTOGL):c.6421G>A (p.Ala2141Thr) rs1551118 0.70559
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=) rs2985686 0.70412
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) rs1137617 0.70278
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu) rs2275166 0.70089
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu) rs10497520 0.69988
NM_014476.6(PDLIM3):c.906C>T (p.Val302=) rs4635850 0.69865
NM_001367868.2(PLIN4):c.2242A>G (p.Ile748Val) rs62115190 0.69725
NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro) rs784133 0.69639
NM_001371533.1(FUT8):c.165A>G (p.Gln55=) rs2229677 0.69608
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly) rs228406 0.69509
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_017433.5(MYO3A):c.1105G>A (p.Val369Ile) rs3817420 0.69434
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_024867.4(SPEF2):c.579T>C (p.Ile193=) rs7706444 0.69286
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_024027.5(COLEC11):c.130+1784T>C rs3739147 0.69137
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001277115.2(DNAH11):c.12493A>G (p.Met4165Val) rs6461613 0.69063
NM_003502.4(AXIN1):c.762T>C (p.Asp254=) rs1805105 0.69027
NM_031960.3(KRTAP4-8):c.502G>A (p.Ala168Thr) rs72625995 0.68898
NM_006941.4(SOX10):c.927T>C (p.His309=) rs139884 0.68861
NM_024006.4(VKORC1):c.-1639G= rs9923231 0.68843
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_017433.5(MYO3A):c.1042A>G (p.Ile348Val) rs3824699 0.68769
NM_000085.5(CLCNKB):c.324A>G (p.Ser108=) rs5257 0.68719
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=) rs910857 0.68551
NM_000085.5(CLCNKB):c.577-5C>T rs1889788 0.68517
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_017886.4(ULK4):c.803+3A>C rs1716698 0.68363
NM_002296.4(LBR):c.261T>C (p.Pro87=) rs1056608 0.68333
NM_002661.5(PLCG2):c.174T>C (p.Ala58=) rs1143685 0.68306
NM_006531.5(IFT88):c.1300-15A>T rs1329519 0.68302
NM_005658.5(TRAF1):c.1020C>T (p.Pro340=) rs2239657 0.68282
NM_006531.5(IFT88):c.1337G>A (p.Ser446Asn) rs9509307 0.68271
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_002458.3(MUC5B):c.10498A>G (p.Ser3500Gly) rs2943527 0.68219
NM_001349018.2(NME9):c.453G>A (p.Glu151=) rs9289556 0.68199
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_012082.4(ZFPM2):c.302-13C>T rs3735953 0.68152
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_001004697.2(OR2T5):c.38A>G (p.Lys13Arg) rs1770043 0.67963
NM_017886.4(ULK4):c.1624G>A (p.Ala542Thr) rs1052501 0.67826
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455 0.67756
NM_017886.4(ULK4):c.1577+10G>A rs1717003 0.67741
NM_001372106.1(DNAH10):c.891T>C (p.Ser297=) rs11057355 0.67681
NM_007074.4(CORO1A):c.336A>G (p.Pro112=) rs1132812 0.67557
NM_001097.3(ACR):c.886A>G (p.Met296Val) rs5771002 0.67461
NM_170682.4(P2RX2):c.468T>C (p.Thr156=) rs7964634 0.67274
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_001083116.3(PRF1):c.900C>T (p.His300=) rs885822 0.67032
NM_017886.4(ULK4):c.116A>G (p.Lys39Arg) rs2272007 0.67027
NM_001035.3(RYR2):c.13783-6A>G rs790901 0.66919
NM_001366028.2(DNAH12):c.1399A>C (p.Thr467Pro) rs6806444 0.66912
NM_001366028.2(DNAH12):c.3053+9A>G rs6768661 0.66854
NM_170682.4(P2RX2):c.636-13G>A rs6560891 0.66828
NM_001366028.2(DNAH12):c.1912-8A>G rs9871422 0.66798
NM_017886.4(ULK4):c.670A>G (p.Ile224Val) rs1716975 0.66779
NM_203447.4(DOCK8):c.895-16T>C rs2296828 0.66765
NM_001366028.2(DNAH12):c.1650+6G>A rs9863860 0.66764
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_001035.3(RYR2):c.13913+12A>C rs790900 0.66578
NM_173628.4(DNAH17):c.8907C>T (p.Ser2969=) rs691225 0.66535
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_004700.4(KCNQ4):c.708+14G>C rs2361660 0.66283
NM_145038.5(DRC1):c.1397-15A>G rs4072407 0.66267
NM_173628.4(DNAH17):c.5226G>T (p.Met1742Ile) rs690844 0.66261
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_002036.4(ACKR1):c.125G>A (p.Gly42Asp) rs12075 0.66206
NM_001105206.3(LAMA4):c.1492T>C (p.Tyr498His) rs1050348 0.66129
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp) rs2985684 0.65918
NM_018139.3(DNAAF2):c.498C>T (p.Ala166=) rs2985685 0.65889
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65693
NM_000308.4(CTSA):c.1088+10C>T rs4608591 0.65654
NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=) rs2985687 0.65543
NM_000308.4(CTSA):c.948+7G>A rs2075961 0.65493
NM_020754.4(ARHGAP31):c.1926+5A>G rs1463139 0.65459
NM_178335.3(CCDC50):c.50-4C>G rs188384 0.65003
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=) rs2250736 0.64657
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_017802.4(DNAAF5):c.2228G>A (p.Arg743Lys) rs3922641 0.64560
NM_001228.5(CASP8):c.-26-8189A>G rs3769823 0.64497
NM_173628.4(DNAH17):c.12681C>T (p.Tyr4227=) rs2271613 0.64491
NM_003114.5(SPAG1):c.2330T>C (p.Met777Thr) rs6511 0.64386
NM_000234.3(LIG1):c.2406T>C (p.Asp802=) rs20581 0.64373
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_001195263.2(PDZD7):c.367+7A>G rs6584410 0.64290
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_000626.4(CD79B):c.366T>C (p.Cys122=) rs2070776 0.64196
NM_024503.5(HIVEP3):c.5736T>C (p.Ala1912=) rs615177 0.64180
NM_198129.4(LAMA3):c.2901T>C (p.Ala967=) rs9962023 0.64176
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=) rs2275167 0.64121
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys) rs2294228 0.64022
NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=) rs3745509 0.63924
NM_174934.4(SCN4B):c.62-124G>A rs1793137 0.63869
NM_001277115.2(DNAH11):c.7776C>T (p.His2592=) rs1109806 0.63800
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_000260.4(MYO7A):c.5743-12T>C rs2276291 0.63742
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_001141917.2(SPATA31F1):c.1495A>G (p.Met499Val) rs62547039 0.63698
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_020877.5(DNAH2):c.10799C>T (p.Thr3600Ile) rs7213894 0.63617
NM_018406.7(MUC4):c.3718G>T (p.Ala1240Ser) rs201433788 0.63246
NM_001199138.2(NLRC4):c.1824C>T (p.Ala608=) rs455060 0.63173
NM_001378609.3(OTOGL):c.2789+9A>G rs1376384 0.63172
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_173628.4(DNAH17):c.4531A>G (p.Thr1511Ala) rs9896398 0.63041
NM_001364905.1(LRBA):c.7849+10A>G rs1813134 0.62993
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_032415.7(CARD11):c.2142+13C>T rs2527509 0.62838
NM_006610.4(MASP2):c.1111G>T (p.Asp371Tyr) rs12711521 0.62832
NM_144672.4(OTOA):c.1630-5C>T rs215901 0.62768
NM_002424.3(MMP8):c.95C>T (p.Thr32Ile) rs3765620 0.62760
NM_001372106.1(DNAH10):c.682T>C (p.Ser228Pro) rs11057353 0.62641
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752 0.62582
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751 0.62557
NM_015541.3(LRIG1):c.2221T>C (p.Leu741=) rs900171 0.62545
NM_173628.4(DNAH17):c.6975T>C (p.Ile2325=) rs691151 0.62420
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) rs1805049 0.62414
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=) rs6709886 0.62301
NM_006005.3(WFS1):c.461-15C>T rs9998519 0.62200
NM_152468.5(TMC8):c.1823+15C>A rs7221365 0.61929
NM_004972.4(JAK2):c.2490G>A (p.Leu830=) rs2230724 0.61784
NM_173628.4(DNAH17):c.3496T>C (p.Leu1166=) rs4273108 0.61559
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_182925.5(FLT4):c.2670C>G (p.His890Gln) rs448012 0.61446
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_003673.4(TCAP):c.453A>C (p.Ala151=) rs1053651 0.61044
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_019594.4(LRRC8A):c.1476T>C (p.Arg492=) rs3750319 0.60629
NM_014956.5(CEP164):c.3090-16A>C rs693147 0.60559
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_000065.5(C6):c.356C>A (p.Ala119Glu) rs1801033 0.60275
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser) rs1999240 0.60118
NM_001737.5(C9):c.78-10G>A rs476569 0.60021
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_001366028.2(DNAH12):c.11281G>A (p.Gly3761Ser) rs4060726 0.59826
NM_133459.4(CCBE1):c.775+12A>G rs1893788 0.59779
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) rs6058891 0.59749
NM_001364171.2(ODAD1):c.2019T>C (p.Ser673=) rs7252988 0.59744
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) rs2424922 0.59732
NM_024867.4(SPEF2):c.211A>C (p.Asn71His) rs6897513 0.59724
NM_152393.4(KLHL40):c.1034A>G (p.Asn345Ser) rs6805421 0.59704
NM_000760.4(CSF3R):c.1260T>C (p.Thr420=) rs3917981 0.59625
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg) rs2071888 0.59589
NM_020297.4(ABCC9):c.574-5C>A rs3759236 0.59559
NM_000038.6(APC):c.5034G>A (p.Gly1678=) rs42427 0.59504
NM_000038.6(APC):c.5880G>A (p.Pro1960=) rs465899 0.59308
NM_024867.4(SPEF2):c.861C>T (p.Asp287=) rs2270558 0.59301
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_000038.6(APC):c.5268T>G (p.Ser1756=) rs866006 0.59230
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047 0.59203
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_003803.4(MYOM1):c.4685+11G>T rs2298539 0.58772
NM_001199138.2(NLRC4):c.543A>C (p.Arg181=) rs408813 0.58740
NM_017704.3(ANKRD49):c.279C>G (p.Leu93=) rs2509943 0.58640
NM_152468.5(TMC8):c.1107G>A (p.Glu369=) rs12452890 0.58602
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_002354.3(EPCAM):c.344T>C (p.Met115Thr) rs1126497 0.58219
NM_178335.3(CCDC50):c.1242+10G>A rs211043 0.58210
NM_178335.3(CCDC50):c.1269C>A (p.Ser423=) rs364519 0.58203
NM_178335.3(CCDC50):c.995T>C (p.Met332Thr) rs293813 0.58148
NM_006892.4(DNMT3B):c.1906-5T>C rs2424928 0.58051
NM_001122659.3(EDNRB):c.831A>G (p.Leu277=) rs5351 0.58046
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile) rs1130866 0.57811
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555 0.57766
NM_003134.6(SRP14):c.280C>T (p.Leu94=) rs8208 0.57763
NM_032578.4(MYPN):c.1647T>C (p.Ser549=) rs2673794 0.57747
NM_014834.4(LRRC37A):c.2211A>G (p.Pro737=) rs62073222 0.57687
NM_003803.4(MYOM1):c.5040T>C (p.Gly1680=) rs2230164 0.57606
NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu) rs4722064 0.57409
NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly) rs2502726 0.57263
NM_002709.3(PPP1CB):c.201A>G (p.Gln67=) rs1128416 0.57257
NM_014000.3(VCL):c.2388= (p.Pro796=) rs767809 0.57138
NM_002422.5(MMP3):c.133A>G (p.Lys45Glu) rs679620 0.57112
NM_000214.3(JAG1):c.765= (p.Tyr255=) rs1131695 0.57070
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_001145809.2(MYH14):c.657G>A (p.Ala219=) rs4801822 0.56915
NM_001256317.3(TMPRSS3):c.447-13A>G rs8130564 0.56900
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293 0.56709
NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val) rs1805034 0.56701
NM_000260.4(MYO7A):c.6051+17T>A rs1320702 0.56699
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56654
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_176787.5(PIGN):c.741C>T (p.His247=) rs9320000 0.56637
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.56607
NM_002422.5(MMP3):c.626-14A>G rs591058 0.56536
NM_001366028.2(DNAH12):c.6948+922= rs6445873 0.56435
NM_030917.4(FIP1L1):c.1285+11T>G rs11723755 0.56414
NM_001127453.2(GSDME):c.447A>G (p.Glu149=) rs876305 0.56409
NM_001366028.2(DNAH12):c.5253+289C>T rs4681982 0.56353
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_003151.4(STAT4):c.1113-4C>T rs3024866 0.56117
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_016239.4(MYO15A):c.7857G>A (p.Gly2619=) rs854772 0.55976
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_002691.4(POLD1):c.2953+12C>T rs3218776 0.55791
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_002661.5(PLCG2):c.432-13T>A rs4888183 0.55511
NM_006892.4(DNMT3B):c.1760-5C>G rs1997797 0.55509
NM_001666.5(ARHGAP4):c.1716T>C (p.His572=) rs2070097 0.55492
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_000492.4(CFTR):c.1680-870T>A rs213965 0.55332
NM_152468.5(TMC8):c.917A>T (p.Asn306Ile) rs7208422 0.55328
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_002424.3(MMP8):c.259A>G (p.Lys87Glu) rs1940475 0.55291
NM_002207.3(ITGA9):c.1520G>A (p.Gly507Glu) rs267561 0.55197
NM_001261428.3(LPIN1):c.39G>C (p.Glu13Asp) rs4669769 0.55034
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser) rs4536103 0.55018
NM_001127255.2(NLRP7):c.2775A>G (p.Ala925=) rs269950 0.54861
NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=) rs269951 0.54828
NM_006261.5(PROP1):c.109+3G>A rs4072924 0.54780
NM_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_001367479.1(DNAH14):c.13037T>G (p.Phe4346Cys) rs950210 0.54738
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538 0.54644
NM_024867.4(SPEF2):c.2142T>C (p.Asn714=) rs6451206 0.54517
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913 0.54510
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161 0.54502
NM_032415.7(CARD11):c.3276A>G (p.Arg1092=) rs1124581 0.54386
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_020859.4(SHROOM3):c.1405C>G (p.Pro469Ala) rs344141 0.54126
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_002422.5(MMP3):c.1086T>C (p.Ala362=) rs520540 0.54057
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422 0.54012
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_001177519.3(MICA):c.821G>A (p.Arg274Gln) rs1063635 0.53806
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_005453.5(ZBTB22):c.928A>G (p.Thr310Ala) rs3130100 0.53721
NM_002422.5(MMP3):c.288T>C (p.Asp96=) rs602128 0.53676
NM_182916.3(TRNT1):c.1056+11A>G rs1669348 0.53660
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_020859.4(SHROOM3):c.2922G>A (p.Ser974=) rs344142 0.53566
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_020877.5(DNAH2):c.7950-6C>T rs1565817 0.53448
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305 0.53400
NM_002471.4(MYH6):c.4914T>C (p.Ala1638=) rs178640 0.53346
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_001277115.2(DNAH11):c.7901A>G (p.Asn2634Ser) rs9639393 0.53316
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=) rs3745504 0.53291
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val) rs3734110 0.53284
NM_001035.3(RYR2):c.677-11T>A rs10754602 0.53281
NM_024867.4(SPEF2):c.3331-11T>C rs11957963 0.53280
NM_002497.4(NEK2):c.504T>C (p.His168=) rs701929 0.53247
NM_002473.6(MYH9):c.1554+7A>G rs3752462 0.53193
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=) rs1445823 0.53068
NM_020223.4(FAM20C):c.1659G>T (p.Val553=) rs36170987 0.52970
NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val) rs1136450 0.52928
NM_018897.3(DNAH7):c.1633C>T (p.Arg545Cys) rs10931715 0.52883
NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=) rs6879219 0.52860
NM_002207.3(ITGA9):c.545-8C>G rs2507940 0.52714
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) rs1133683 0.52439
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=) rs35578653 0.52425
NM_198282.4(STING1):c.144G>C (p.Val48=) rs7447927 0.52424
NM_025128.5(MUS81):c.1065G>A (p.Arg355=) rs630303 0.52198
NM_002458.3(MUC5B):c.2007T>C (p.Tyr669=) rs908229 0.52078
NM_016239.4(MYO15A):c.4954C>T (p.Leu1652=) rs2280777 0.52028
NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) rs2070489 0.51926
NM_012472.6(DNAAF11):c.695C>T (p.Thr232Ile) rs2293979 0.51887
NM_002458.3(MUC5B):c.9807T>C (p.Ser3269=) rs3021163 0.51861
NM_173628.4(DNAH17):c.2860-13C>T rs11077379 0.51855
NM_138691.3(TMC1):c.45C>T (p.Asp15=) rs2589615 0.51851
NM_003386.3(ZAN):c.5765= (p.His1922=) rs78193191 0.51814
NM_198129.4(LAMA3):c.9352-7G>A rs2241643 0.51794
NM_001098668.4(SFTPA2):c.26C>A (p.Thr9Asn) rs1059046 0.51745
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) rs1045644 0.51720
NM_001378454.1(ALMS1):c.11873-12T>C rs1320374 0.51648
NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn) rs3758449 0.51636
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487 0.51629
NM_005228.5(EGFR):c.2361G>A (p.Gln787=) rs1050171 0.51617
NM_130849.4(SLC39A4):c.172G>A (p.Ala58Thr) rs2280838 0.51612
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_033238.3(PML):c.1710+1245A>G rs743580 0.51511
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097 0.51474
NM_002458.3(MUC5B):c.14116A>C (p.Thr4706Pro) rs2943512 0.51461
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241 0.51337
NM_018076.5(ODAD2):c.2058T>C (p.Asn686=) rs7893462 0.51292
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) rs1805121 0.51247
NM_173628.4(DNAH17):c.3087G>A (p.Pro1029=) rs11868065 0.51212
NM_173628.4(DNAH17):c.2888T>C (p.Ile963Thr) rs11651537 0.51175
NM_001206927.2(DNAH8):c.10141-4del rs11291395 0.51174
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51121
NM_001928.4(CFD):c.213-9G>C rs1629038 0.51106
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_001378609.3(OTOGL):c.5094T>C (p.Asn1698=) rs10778727 0.51063
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_000260.4(MYO7A):c.3924+12C>T rs2276285 0.51057
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517 0.51043
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814 0.51006
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) rs1801274 0.50935
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_006846.4(SPINK5):c.2740-170G>A rs3764930 0.50854
NM_144585.4(SLC22A12):c.258C>T (p.His86=) rs3825016 0.50802
NM_001177519.3(MICA):c.707T>C (p.Ile236Thr) rs1140700 0.50800
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233 0.50779
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_023036.6(DNAI2):c.1062A>G (p.Glu354=) rs8073660 0.50668
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_015340.4(LARS2):c.1760+12T>C rs2306522 0.50630
NM_001367479.1(DNAH14):c.12651C>T (p.Gly4217=) rs3856155 0.50623
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
NM_144585.4(SLC22A12):c.426T>C (p.His142=) rs11231825 0.50518
NM_000234.3(LIG1):c.510C>A (p.Ala170=) rs20580 0.50510
NM_001558.4(IL10RA):c.459A>G (p.Ala153=) rs2256111 0.50461
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997 0.50396
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_000315.4(PTH):c.-5-10G>A rs694 0.50325
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=) rs7367 0.50292
NM_001277115.2(DNAH11):c.4377+15A>G rs57208694 0.50202
NM_001347886.2(DNAH3):c.6378A>G (p.Lys2126=) rs3115446 0.50197
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910 0.50179
NM_002295.6(RPSA):c.-8T>C rs1803893 0.50177
NM_002458.3(MUC5B):c.11562T>C (p.Ser3854=) rs4963057 0.50105
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_001042492.3(NF1):c.5609+19T>A rs2285894 0.49901
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) rs7210574 0.49757
NM_001166108.2(PALLD):c.1965-12625A>G rs62333013 0.49745
NM_152617.4(RNF168):c.1202C>A (p.Pro401Gln) rs3796129 0.49737
NM_001004482.1(OR13C5):c.244C>T (p.Leu82=) rs80227456 0.49704
NM_002474.3(MYH11):c.1743T>C (p.Ala581=) rs2272554 0.49695
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_001378213.1(BCL9L):c.4182T>C (p.Pro1394=) rs7104819 0.49499
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
NM_015690.5(STK36):c.1748G>A (p.Arg583Gln) rs1344642 0.49480
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_001378609.3(OTOGL):c.6737A>G (p.Asn2246Ser) rs1551122 0.49218
NM_001256317.3(TMPRSS3):c.453G>A (p.Val151=) rs2839501 0.49190
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_178335.3(CCDC50):c.651T>C (p.His217=) rs2028572 0.49117
NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn) rs2028574 0.49112
NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg) rs4677728 0.49101
NM_178335.3(CCDC50):c.976+6A>G rs4677729 0.49066
NM_002661.5(PLCG2):c.2236-14C>G rs12446127 0.48966
NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=) rs11078355 0.48964
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=) rs7703349 0.48933
NM_001080467.3(MYO5B):c.2049G>A (p.Val683=) rs2298628 0.48893
NM_000234.3(LIG1):c.2442G>C (p.Ala814=) rs13436 0.48854
NM_018897.3(DNAH7):c.3486A>C (p.Ala1162=) rs1489802 0.48854
NM_173628.4(DNAH17):c.10449C>G (p.Thr3483=) rs2289751 0.48833
NM_000715.4(C4BPA):c.899T>C (p.Ile300Thr) rs4844573 0.48753
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly) rs612969 0.48670
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=) rs3734111 0.48605
NM_001725.3(BPI):c.634G>A (p.Glu212Lys) rs4358188 0.48573
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074 0.48497
NM_000257.4(MYH7):c.189= (p.Thr63=) rs2069540 0.48416
NM_001367479.1(DNAH14):c.10458C>A (p.Asp3486Glu) rs3856145 0.48359
NM_001035.3(RYR2):c.1612+14T>C rs2045955 0.48321
NM_001367479.1(DNAH14):c.11288G>A (p.Arg3763Lys) rs7535953 0.48308
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235 0.48308
NM_001367479.1(DNAH14):c.10699A>G (p.Lys3567Glu) rs6667999 0.48276
NM_001367479.1(DNAH14):c.11159T>C (p.Val3720Ala) rs7527925 0.48276
NM_198129.4(LAMA3):c.4260G>C (p.Gly1420=) rs867449 0.48275
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48211
NM_001256545.2(MEGF10):c.3387T>A (p.Gly1129=) rs3812052 0.48209
NM_002458.3(MUC5B):c.10403G>C (p.Arg3468Pro) rs2943529 0.48075
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_000092.5(COL4A4):c.4523-8T>C rs13419076 0.47936
NM_001292063.2(OTOG):c.2038T>C (p.Ser680Pro) rs7106548 0.47894
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557 0.47874
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923 0.47802
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47702
NM_000234.3(LIG1):c.1821+14A>T rs392891 0.47637
NM_017433.5(MYO3A):c.1170+7C>T rs3817419 0.47630
NM_017433.5(MYO3A):c.956G>A (p.Arg319His) rs3824700 0.47622
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val) rs11651270 0.47552
NM_130810.4(DNAAF4):c.572A>G (p.Glu191Gly) rs600753 0.47545
NM_017433.5(MYO3A):c.1104C>T (p.Tyr368=) rs35379457 0.47540
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
NM_017433.5(MYO3A):c.1053+11C>T rs3824698 0.47508
NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile) rs1185246 0.47503
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421 0.47503
NM_017433.5(MYO3A):c.1053+12A>G rs3824697 0.47492
NM_003906.5(MCM3AP):c.2931T>C (p.His977=) rs2839181 0.47408
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_198129.4(LAMA3):c.4530C>T (p.Pro1510=) rs12965685 0.47260
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000343.4(SLC5A1):c.1129+7T>G rs5998233 0.47147
NM_178034.4(PLA2G4D):c.387+14T>G rs563112904 0.47136
NM_144997.7(FLCN):c.1062+6C>T rs8065832 0.47076
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_177438.3(DICER1):c.4206+9_4206+11del rs367764979 0.46952
NM_023036.6(DNAI2):c.1347+7C>T rs2290955 0.46912
NM_002474.3(MYH11):c.1249-11G>C rs2280764 0.46907
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr) rs9616915 0.46763
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val) rs1039808 0.46652
NM_000092.5(COL4A4):c.3817+9G>C rs13423714 0.46646
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812 0.46642
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_001365276.2(TNXB):c.11629G>A (p.Val3877Ile) rs2856453 0.46361
NM_001211.6(BUB1B):c.2143+15C>T rs11630664 0.46333
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908 0.46292
NM_001145809.2(MYH14):c.2355-14C>T rs12981413 0.46235
NM_194248.3(OTOF):c.2215-83C>T rs4665855 0.46217
NM_002458.3(MUC5B):c.9215T>C (p.Phe3072Ser) rs55813014 0.46197
NM_024164.6(TPSB2):c.226G>C (p.Val76Leu) rs199887053 0.46133
NM_002471.4(MYH6):c.4359+13C>T rs8022522 0.46131
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_201384.3(PLEC):c.1264-15G>A rs7003580 0.45916
NM_016616.5(NME8):c.1140-10T>G rs1530822 0.45910
NM_001277115.2(DNAH11):c.705C>T (p.Asn235=) rs10950854 0.45869
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) rs10644111 0.45670
NM_001135556.2(DYNC1I1):c.1651-9C>A rs42082 0.45665
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_004850.5(ROCK2):c.1292C>A (p.Thr431Asn) rs2230774 0.45408
NM_001367479.1(DNAH14):c.12186T>G (p.Asn4062Lys) rs12737248 0.45254
NM_001399.5(EDA):c.706+11_706+12del rs10579679 0.45223
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg) rs2274064 0.45154
NM_001942.4(DSG1):c.31A>G (p.Met11Val) rs1426310 0.45128
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_006846.4(SPINK5):c.1011-12C>T rs1422991 0.45033
NM_144687.4(NLRP12):c.-12C>T rs4539722 0.44990
NM_002471.4(MYH6):c.3302T>C (p.Val1101Ala) rs365990 0.44987
NM_001286445.3(RIPOR2):c.*7G>A rs9358799 0.44982
NM_001367479.1(DNAH14):c.12096C>T (p.Ala4032=) rs11578981 0.44980
NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=) rs4615458 0.44959
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val) rs2285944 0.44667
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val) rs30168 0.44440
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_003386.3(ZAN):c.5764C>T (p.His1922Tyr) rs314299 0.44256
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_144498.4(OSBPL2):c.1125+15A>G rs2297592 0.44193
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_020529.3(NFKBIA):c.*2C>T rs8904 0.44154
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_001366028.2(DNAH12):c.3952C>T (p.Leu1318=) rs2121743 0.44138
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_175940.3(DUOX1):c.3524+15_3524+16del rs760297837 0.44096
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) rs2277923 0.44081
NM_015354.3(NUP188):c.4596A>C (p.Ser1532=) rs2287363 0.44044
NM_130849.4(SLC39A4):c.340G>A (p.Ala114Thr) rs17855765 0.43910
NM_013254.4(TBK1):c.978T>A (p.Ile326=) rs7486100 0.43650
NM_001366028.2(DNAH12):c.4338C>T (p.Tyr1446=) rs6768943 0.43646
NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala) rs2272662 0.43646
NM_001614.5(ACTG1):c.363+13C>A rs9910792 0.43644
NM_018648.4(NOP10):c.55-15G>C rs422388 0.43627
NM_172166.4(MSH5):c.2148A>G (p.Gln716=) rs707938 0.43605
NM_001282225.2(ADA2):c.159C>T (p.Asn53=) rs362129 0.43592
NM_017802.4(DNAAF5):c.1895T>C (p.Val632Ala) rs4720951 0.43572
NM_006231.4(POLE):c.62+15C>T rs2075784 0.43566
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=) rs3213936 0.43495
NM_152327.5(AK7):c.948+12C>T rs10444759 0.43493
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020859.4(SHROOM3):c.2983C>T (p.Leu995=) rs344143 0.43458
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=) rs2304891 0.43325
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) rs10001 0.43223
NM_153676.4(USH1C):c.1085+21C>G rs2240488 0.43168
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_000901.5(NR3C2):c.-2C>G rs2070951 0.43083
NM_015956.3(MRPL4):c.740-13A>C rs765019295 0.43065
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_006949.4(STXBP2):c.38-7C>T rs8104339 0.42983
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=) rs10747559 0.42978
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_006892.4(DNMT3B):c.1252+13T>G rs910085 0.42898
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_001725.3(BPI):c.35C>T (p.Ala12Val) rs1341023 0.42855
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_002458.3(MUC5B):c.1843+11C>G rs12421917 0.42721
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_001106.4(ACVR2B):c.811-13T>C rs13097628 0.42596
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=) rs3782357 0.42594
NM_002458.3(MUC5B):c.11725G>A (p.Val3909Ile) rs2943521 0.42584
NM_006393.3(NEBL):c.1671+9T>C rs10491056 0.42572
NM_001277115.2(DNAH11):c.6274-13T>G rs2965401 0.42569
NM_032861.4(SERAC1):c.355+11A>G rs9356399 0.42562
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_001006658.3(CR2):c.1776G>A (p.Leu592=) rs1048971 0.42495
NM_001372.4(DNAH9):c.1452A>G (p.Glu484=) rs9895535 0.42388
NM_177924.5(ASAH1):c.214G>A (p.Val72Met) rs1071645 0.42367
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) rs1049874 0.42365
NM_001292063.2(OTOG):c.4904C>T (p.Pro1635Leu) rs2041028 0.42330
NM_001290043.2(TAP2):c.1636-10T>C rs241436 0.42321
NM_177924.5(ASAH1):c.126-1873G>A rs3753115 0.42287
NM_177924.5(ASAH1):c.303+7G>A rs4921834 0.42285
NM_001206927.2(DNAH8):c.7680C>T (p.Val2560=) rs6458080 0.42260
NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=) rs1046048 0.42251
NM_001206927.2(DNAH8):c.5769C>T (p.His1923=) rs2061907 0.42221
NM_001942.4(DSG1):c.732C>T (p.Gly244=) rs12967407 0.42219
NM_001330542.2(HEXD):c.433A>G (p.Ile145Val) rs4789773 0.42205
NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=) rs12536928 0.42173
NM_001206927.2(DNAH8):c.7569G>A (p.Lys2523=) rs9380795 0.42138
NM_001725.3(BPI):c.51G>C (p.Leu17=) rs1341024 0.41981
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) rs6964587 0.41920
NM_016366.3(CABP2):c.281G>A (p.Arg94Gln) rs2276118 0.41880
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_002458.3(MUC5B):c.13211C>G (p.Ala4404Gly) rs2943517 0.41836
NM_003019.5(SFTPD):c.92T>C (p.Met31Thr) rs721917 0.41827
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_153676.4(USH1C):c.105-16C>T rs2041027 0.41822
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NM_001017365.3(C4BPB):c.232+3A>G rs6690037 0.41597
NM_206933.4(USH2A):c.10232= (p.Glu3411=) rs10864198 0.41597
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=) rs2955366 0.41355
NM_002458.3(MUC5B):c.7676C>T (p.Thr2559Met) rs60787297 0.41256
NM_001369.3(DNAH5):c.192+14C>G rs1530497 0.41173
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_144498.4(OSBPL2):c.1249+4C>T rs3746657 0.41122
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_001366028.2(DNAH12):c.4714G>A (p.Asp1572Asn) rs6773904 0.41034
NM_001206927.2(DNAH8):c.3071G>A (p.Gly1024Glu) rs874808 0.40927
NM_001289080.2(CNTN6):c.2259G>A (p.Val753=) rs2291101 0.40919
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642 0.40886
NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly) rs9989177 0.40859
NM_006261.5(PROP1):c.27T>C (p.Ala9=) rs1135320 0.40746
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_001905.4(CTPS1):c.1094+14G>A rs12718433 0.40636
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159 0.40624
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782 0.40522
NM_001314025.2(YBEY):c.210+13T>A rs61182475 0.40508
NM_001206927.2(DNAH8):c.13119A>G (p.Leu4373=) rs3737094 0.40497
NM_020297.4(ABCC9):c.574-5= rs3759236 0.40441
NM_001366385.1(CARD14):c.2399-4A>G rs11653893 0.40359
NM_001085.5(SERPINA3):c.25G>A (p.Ala9Thr) rs4934 0.40314
NM_144997.7(FLCN):c.397-14C>T rs1736219 0.40309
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=) rs10041113 0.40226
NM_001369.3(DNAH5):c.5115-5T>C rs4429853 0.40224
NM_001330542.2(HEXD):c.15T>G (p.Thr5=) rs1141463 0.40170
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=) rs1348689 0.40167
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838 0.40153
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=) rs30169 0.40053
NM_001270974.2(HYDIN):c.-82A>T rs12449210 0.40012
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486 0.39967
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp) rs11652075 0.39960
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972 0.39950
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365 0.39950
NM_080424.4(SP110):c.1568T>C (p.Met523Thr) rs1135791 0.39929
NM_001369.3(DNAH5):c.6444+11C>T rs1348691 0.39914
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu) rs1530496 0.39883
NM_172095.4(CATSPER2):c.1179-2A>T rs7169097 0.39868
NM_017433.5(MYO3A):c.3850A>T (p.Thr1284Ser) rs3740231 0.39847
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837 0.39736
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_001127255.2(NLRP7):c.390G>A (p.Gln130=) rs775883 0.39585
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=) rs6554827 0.39500
NM_001277115.2(DNAH11):c.4449T>C (p.Ile1483=) rs56029521 0.39493
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_201384.3(PLEC):c.1815+13A>G rs10866916 0.39200
NM_001292063.2(OTOG):c.5804C>T (p.Thr1935Met) rs7111528 0.39131
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_001369.3(DNAH5):c.12910-11C>T rs30175 0.39090
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_002661.5(PLCG2):c.3093T>C (p.Asn1031=) rs1071644 0.39075
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_004655.4(AXIN2):c.148C>T (p.Pro50Ser) rs2240308 0.39067
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=) rs2241726 0.39054
NM_000542.3(SFTPB):c.5A>C (p.His2Pro) rs2077079 0.39035
NM_003673.4(TCAP):c.453= (p.Ala151=) rs1053651 0.38956
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_198999.3(SLC26A5):c.403+14T>C rs7779997 0.38939
NM_005101.4(ISG15):c.248G>A (p.Ser83Asn) rs1921 0.38885
NM_001372.4(DNAH9):c.10855T>C (p.Leu3619=) rs8070256 0.38845
NM_001369369.1(FOXN1):c.1795G>C (p.Ala599Pro) rs532648 0.38842
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_001270974.2(HYDIN):c.4475C>A (p.Pro1492His) rs78763837 0.38686
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162 0.38498
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984 0.38447
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_001145809.2(MYH14):c.2205C>G (p.Arg735=) rs378811 0.38312
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539 0.38300
NM_052813.5(CARD9):c.126C>T (p.Pro42=) rs10781499 0.38221
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) rs4546 0.38199
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836 0.38173
NM_003086.4(SNAPC4):c.4221T>C (p.Ser1407=) rs10781507 0.38157
NM_052813.5(CARD9):c.35G>A (p.Ser12Asn) rs4077515 0.38134
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=) rs11083462 0.38131
NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr) rs2214326 0.38066
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_002067.5(GNA11):c.771C>T (p.Thr257=) rs4900 0.37904
NM_001366385.1(CARD14):c.633G>A (p.Glu211=) rs4889990 0.37893
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg) rs17856705 0.37821
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=) rs6493311 0.37763
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_017763.6(RNF43):c.1252C>A (p.Leu418Met) rs2526374 0.37751
NM_033409.4(SLC52A3):c.765C>T (p.Leu255=) rs3746805 0.37656
NM_030665.4(RAI1):c.837_838del (p.Gln280fs) rs35068024 0.37587
NM_206933.4(USH2A):c.4457= (p.Arg1486=) rs1805049 0.37586
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_022124.6(CDH23):c.2388= (p.Asp796=) rs3752751 0.37443
NM_001386795.1(DTNA):c.1743+14G>A rs1617318 0.37431
NM_022124.6(CDH23):c.2316= (p.Asn772=) rs3752752 0.37418
NM_001141917.2(SPATA31F1):c.3178C>T (p.His1060Tyr) rs472644 0.37416
NM_001384140.1(PCDH15):c.3984-20C>T rs7089209 0.37411
NM_001292063.2(OTOG):c.2340G>A (p.Pro780=) rs4757548 0.37391
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000546.6(TP53):c.215= (p.Pro72=) rs1042522 0.37346
NM_001364171.2(ODAD1):c.1404+8A>G rs8111947 0.37323
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462 0.37260
NM_001369.3(DNAH5):c.5114+11T>C rs6554820 0.37240
NM_001292063.2(OTOG):c.2561+14G>A rs4756902 0.37182
NM_001018116.2(CAVIN4):c.996G>A (p.Arg332=) rs2780956 0.37123
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_172245.4(CSF2RA):c.999G>A (p.Val333=) rs28460440 0.37040
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920 0.37027
NM_002458.3(MUC5B):c.6632G>C (p.Arg2211Pro) rs137973688 0.37014
NM_018842.5(BAIAP2L1):c.487-10_487-9insA rs201588264 0.37014
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_003803.4(MYOM1):c.3576-5C>T rs7232329 0.36941
NM_002029.4(FPR1):c.301G>C (p.Val101Leu) rs2070745 0.36919
NM_138420.4(AHNAK2):c.6559A>G (p.Met2187Val) rs10134675 0.36913
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_003194.5(TBP):c.228_229del (p.Gln77fs) rs1491487452 0.36909
NM_001017365.3(C4BPB):c.462C>T (p.Asn154=) rs8942 0.36892
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261 0.36815
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284 0.36806
NM_003803.4(MYOM1):c.541T>C (p.Ser181Pro) rs1962519 0.36782
NM_001481.3(GAS8):c.597A>G (p.Glu199=) rs868045 0.36742
NM_001367479.1(DNAH14):c.6749-15T>C rs630120 0.36548
G6PD:c.1455-13T>C rs2071429 0.36538
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_003086.4(SNAPC4):c.3777A>G (p.Leu1259=) rs3812565 0.36400
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=) rs231402 0.36399
NM_001367479.1(DNAH14):c.6866-10G>T rs670255 0.36269
NM_018406.7(MUC4):c.3723A>T (p.Ala1241=) rs530253873 0.36248
NM_003244.4(TGIF1):c.16+1720del rs11571510 0.36186
NM_000542.5(SFTPB):c.196-8C>A rs3024798 0.36098
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_004064.5(CDKN1B):c.326T>G (p.Val109Gly) rs2066827 0.36014
NM_006563.5(KLF1):c.304T>C (p.Ser102Pro) rs2072597 0.36000
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_033238.3(PML):c.1710+1270G>T rs743581 0.35923
NM_002435.3(MPI):c.345+15G>A rs11638130 0.35866
NM_001372.4(DNAH9):c.429C>T (p.Pro143=) rs11078022 0.35841
NM_153676.4(USH1C):c.2547-11T>C rs10832795 0.35821
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=) rs4894029 0.35796
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_001013703.4(EIF2AK4):c.3408-14G>C rs2279580 0.35755
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_004972.4(JAK2):c.489C>T (p.His163=) rs2230722 0.35691
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=) rs10832824 0.35674
NM_002458.3(MUC5B):c.1065C>T (p.Cys355=) rs2075859 0.35673
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001292063.2(OTOG):c.8364G>C (p.Leu2788=) rs2023483 0.35618
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=) rs2163009 0.35615
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=) rs1560221 0.35601
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=) rs3813250 0.35546
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=) rs2366751 0.35531
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser) rs2066964 0.35511
NM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=) rs7284476 0.35508
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
NM_001035.3(RYR2):c.11963-11T>C rs790889 0.35417
NM_018055.5(NODAL):c.193+12C>T rs10999338 0.35409
NM_006073.4(TRDN):c.1188A>G (p.Lys396=) rs6901953 0.35392
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_001737.5(C9):c.13C>T (p.Arg5Trp) rs700233 0.35371
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_173628.4(DNAH17):c.8040C>T (p.Leu2680=) rs7405830 0.35359
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) rs56407805 0.35335
NM_001369.3(DNAH5):c.9721-12A>T rs12655133 0.35219
NM_001267550.2(TTN):c.97795+6G>T rs3731750 0.35139
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_001013703.4(EIF2AK4):c.4215C>T (p.Gly1405=) rs3207297 0.35044
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397 0.35033
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_017950.4(CCDC40):c.676+13T>C rs7212525 0.34974
NM_000465.4(BARD1):c.1568+14C>T rs5031011 0.34966
NM_001735.3(C5):c.2404G>A (p.Val802Ile) rs17611 0.34958
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34838
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_001735.3(C5):c.1632C>T (p.Tyr544=) rs25681 0.34796
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_173842.3(IL1RN):c.390T>C (p.Ser130=) rs315952 0.34551
NM_001126108.2(SLC12A3):c.2924+13C>T rs2289115 0.34518
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001243156.2(TAF1C):c.1645T>A (p.Leu549Met) rs2230129 0.34511
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala) rs1530498 0.34505
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_016239.4(MYO15A):c.8322C>T (p.Ser2774=) rs712272 0.34416
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala) rs10269582 0.34362
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_016239.4(MYO15A):c.8045A>T (p.Tyr2682Phe) rs712270 0.34278
NM_001289125.3(IFNAR2):c.841-220G>A rs1131668 0.34275
NM_016239.4(MYO15A):c.8460-15C>T rs861278 0.34259
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NM_001013703.4(EIF2AK4):c.2249+7G>A rs34298786 0.34203
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367 0.34123
NM_017763.6(RNF43):c.139A>G (p.Ile47Val) rs3744093 0.34051
NM_000376.3(VDR):c.1056T>C (p.Ile352=) rs731236 0.33962
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_001035.3(RYR2):c.464-8A>C rs10925391 0.33866
NM_001287344.2(BTK):c.71A>G (p.Glu24Gly) rs5951308 0.33864
NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=) rs28927678 0.33792
NM_003803.4(MYOM1):c.1146C>T (p.His382=) rs2230163 0.33709
NM_001375567.1(FOCAD):c.497T>C (p.Leu166Ser) rs10511687 0.33673
NM_020433.5(JPH2):c.2073T>C (p.Phe691=) rs6093935 0.33656
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_181426.2(CCDC39):c.1359C>T (p.Ser453=) rs6769457 0.33560
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=) rs2562838 0.33531
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_031471.6(FERMT3):c.787-10C>A rs11603538 0.33480
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_002661.5(PLCG2):c.1149C>T (p.Asp383=) rs1143688 0.33340
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_018406.7(MUC4):c.12360T>G (p.Ser4120=) rs74941663 0.33286
NM_005228.5(EGFR):c.1887T>A (p.Thr629=) rs2227984 0.33239
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_001080467.3(MYO5B):c.1545+11T>C rs17715416 0.33063
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815 0.33019
NM_001292063.2(OTOG):c.2561+10G>A rs4756901 0.33002
NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) rs396991 0.32987
NM_023036.6(DNAI2):c.865-5A>G rs8076337 0.32904
NM_001372106.1(DNAH10):c.9741A>G (p.Ala3247=) rs61587964 0.32897
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro) rs4308977 0.32718
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_001267550.2(TTN):c.2244G>A (p.Glu748=) rs6715406 0.32532
NM_033124.5(CCDC65):c.398A>G (p.His133Arg) rs10747556 0.32513
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_080387.5(CLEC4D):c.94A>G (p.Ser32Gly) rs4304840 0.32470
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_080860.4(RSPH1):c.393G>A (p.Ala131=) rs2839536 0.32419
NM_033124.5(CCDC65):c.933A>G (p.Arg311=) rs10875893 0.32404
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_033124.5(CCDC65):c.1176C>A (p.Thr392=) rs10875894 0.32390
NM_033124.5(CCDC65):c.1223A>G (p.Tyr408Cys) rs4760600 0.32366
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_001145809.2(MYH14):c.1114+13C>T rs11666328 0.32285
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_001292063.2(OTOG):c.2719G>A (p.Ala907Thr) rs2355466 0.32233
NM_206933.4(USH2A):c.6317= (p.Ile2106=) rs6657250 0.32217
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_001371928.1(AHDC1):c.100A>C (p.Thr34Pro) rs758473342 0.32198
NM_173628.4(DNAH17):c.2031+11G>A rs78321431 0.32191
NM_005740.3(DNAL4):c.36T>C (p.Asp12=) rs760482 0.32160
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000603.5(NOS3):c.3106+11G>T rs7830 0.32144
NM_001372.4(DNAH9):c.9247-14C>T rs3744586 0.32085
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_001366028.2(DNAH12):c.5253+263A>T rs17793014 0.32018
NM_022114.4(PRDM16):c.3284+15G>T rs870171 0.31838
NM_002458.3(MUC5B):c.10821A>C (p.Ala3607=) rs2334757 0.31764
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_017433.5(MYO3A):c.3597G>A (p.Glu1199=) rs3740232 0.31670
NM_000562.3(C8A):c.277C>A (p.Gln93Lys) rs652785 0.31666
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup) rs397841722 0.31640
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_006520.3(DYNLT3):c.183C>T (p.Ala61=) rs11771 0.31582
NM_001330691.3(CEP78):c.84G>C (p.Ser28=) rs10867166 0.31528
NM_001330691.3(CEP78):c.253+8G>A rs13292584 0.31521
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_003906.5(MCM3AP):c.305C>T (p.Ser102Leu) rs9975588 0.31460
NM_004415.4(DSP):c.8472= (p.Gly2824=) rs2744380 0.31376
NM_173628.4(DNAH17):c.4584+13C>T rs9894913 0.31368
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775 0.31347
NM_001318895.3(FHL2):c.688+12G>T rs2278502 0.31336
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_002114.4(HIVEP1):c.4559C>G (p.Ala1520Gly) rs2228212 0.31270
NM_001199799.2(ILDR1):c.791C>G (p.Pro264Arg) rs3915061 0.31231
NM_001366385.1(CARD14):c.676-6G>A rs28674001 0.31201
NM_001321120.2(TBX4):c.402-8G>A rs758596 0.31194
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_001267550.2(TTN):c.23099-3T>C rs2562830 0.31174
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31157
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_015541.3(LRIG1):c.1317C>T (p.Ser439=) rs6793110 0.30941
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313 0.30843
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=) rs6554812 0.30832
NM_015354.3(NUP188):c.3662-4A>G rs2302811 0.30828
NM_173628.4(DNAH17):c.1198-7C>T rs72920970 0.30825
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn) rs17615 0.30786
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001006658.3(CR2):c.2012G>A (p.Arg671His) rs17616 0.30700
NM_001372106.1(DNAH10):c.13308C>T (p.Ser4436=) rs4930721 0.30694
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=) rs1965707 0.30680
NM_015354.3(NUP188):c.3516-14A>G rs2004632 0.30663
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val) rs1377016 0.30620
NM_001372106.1(DNAH10):c.9729G>A (p.Glu3243=) rs58411567 0.30608
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_201384.3(PLEC):c.*10C>T rs1065837 0.30524
NM_003803.4(MYOM1):c.290+14C>G rs7232679 0.30460
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_001039876.3(SYNE4):c.225G>A (p.Pro75=) rs2285424 0.30451
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164 0.30436
NM_002029.4(FPR1):c.546C>A (p.Pro182=) rs2070746 0.30428
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776 0.30410
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_024318.5(LILRA6):c.614G>A (p.Arg205Gln) rs61734495 0.30290
NM_003327.4(TNFRSF4):c.534G>A (p.Glu178=) rs17568 0.30283
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_001367479.1(DNAH14):c.8469+9T>G rs12042900 0.30215
NM_182972.3(IRF2BP2):c.828G>T (p.Ala276=) rs4636 0.30211
NM_001399.5(EDA):c.742-11C>T rs2296765 0.30200
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_178335.3(CCDC50):c.228C>T (p.Arg76=) rs11542549 0.30180
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_002421.4(MMP1):c.900-13T>A rs1144391 0.30068
NM_002421.4(MMP1):c.900-8dup rs17884110 0.30063
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_020877.5(DNAH2):c.4152C>G (p.Pro1384=) rs9909288 0.29919
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_012263.5(TTLL1):c.1242G>A (p.Ser414=) rs1052163 0.29903
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) rs2562836 0.29823
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=) rs2562839 0.29759
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391 0.29753
NM_000234.3(LIG1):c.17+12C>T rs3730849 0.29697
NM_004517.4(ILK):c.297C>T (p.His99=) rs1043388 0.29694
NM_001127255.2(NLRP7):c.955G>A (p.Val319Ile) rs775882 0.29687
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_001166108.2(PALLD):c.671T>C (p.Met224Thr) rs7655494 0.29609
NM_001166108.2(PALLD):c.678C>T (p.Asp226=) rs7673220 0.29605
NM_001166108.2(PALLD):c.672G>A (p.Met224Ile) rs7671781 0.29602
NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr) rs375947 0.29555
NM_002016.2(FLG):c.1360A>G (p.Thr454Ala) rs2011331 0.29513
NM_153700.2(STRC):c.4842C>T (p.Phe1614=) rs3097773 0.29444
NM_001286445.3(RIPOR2):c.2937T>C (p.Ala979=) rs9358802 0.29439
NM_003803.4(MYOM1):c.999G>A (p.Gly333=) rs2230162 0.29399
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_012092.4(ICOS):c.*2A>C rs10183087 0.29378
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_001105206.3(LAMA4):c.5160T>A (p.Val1720=) rs1050353 0.29327
NM_001166108.2(PALLD):c.186G>A (p.Lys62=) rs1806729 0.29323
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_014339.7(IL17RA):c.1100C>T (p.Ala367Val) rs879577 0.29184
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_001004752.2(OR51F1):c.295del (p.Arg99fs) rs34672924 0.29146
NM_023014.1(PRAMEF2):c.1123T>C (p.Cys375Arg) rs1063796 0.29127
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_006254.4(PRKCD):c.1119G>A (p.Glu373=) rs2230494 0.29106
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) rs2748427 0.29034
NM_000091.5(COL4A3):c.144+12C>A rs1882435 0.29027
NM_002458.3(MUC5B):c.13398G>A (p.Thr4466=) rs12418291 0.28999
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_002458.3(MUC5B):c.11517C>T (p.Thr3839=) rs4963056 0.28948
NM_174895.3(PCP2):c.24G>A (p.Thr8=) rs1862514 0.28938
NM_002458.3(MUC5B):c.2493C>T (p.Cys831=) rs7116614 0.28851
NM_004568.6(SERPINB6):c.54G>A (p.Thr18=) rs2236277 0.28827
NM_002458.3(MUC5B):c.6252A>G (p.Thr2084=) rs11605113 0.28768
NM_001270974.2(HYDIN):c.1077T>C (p.Asp359=) rs4788770 0.28759
NM_003114.5(SPAG1):c.2715G>A (p.Ser905=) rs1788190 0.28744
NM_002458.3(MUC5B):c.9452C>T (p.Thr3151Met) rs60268710 0.28724
NM_000214.3(JAG1):c.3417= (p.Tyr1139=) rs1051419 0.28722
NM_002458.3(MUC5B):c.14748C>T (p.Phe4916=) rs4963059 0.28707
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=) rs34373805 0.28610
NM_003839.4(TNFRSF11A):c.-9T>C rs1805033 0.28610
NM_000760.4(CSF3R):c.1254T>C (p.Arg418=) rs3917980 0.28603
NM_001458.5(FLNC):c.3297A>G (p.Val1099=) rs3734973 0.28603
NM_001282225.2(ADA2):c.1359T>C (p.Tyr453=) rs7289170 0.28593
NM_002497.4(NEK2):c.1317A>G (p.Arg439=) rs12031285 0.28582
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_005535.3(IL12RB1):c.1132G>C (p.Gly378Arg) rs401502 0.28523
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr) rs2288023 0.28462
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser) rs2288020 0.28427
NM_005422.4(TECTA):c.4098G>A (p.Thr1366=) rs12275038 0.28426
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro) rs2288022 0.28412
NM_003590.5(CUL3):c.67-11872T>C rs10498163 0.28409
NM_001384140.1(PCDH15):c.706-8= rs10740579 0.28394
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val) rs3194051 0.28365
NM_001207005.2(ZNF233):c.1983del (p.Leu662fs) rs59660444 0.28319
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_016616.5(NME8):c.177C>T (p.Asp59=) rs2598044 0.28287
NM_001282225.2(ADA2):c.1442+11T>C rs58754958 0.28284
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_016616.5(NME8):c.128G>A (p.Arg43Lys) rs2722372 0.28270
NM_001317778.2(SFTPC):c.436-26C>G rs2070687 0.28233
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_020877.5(DNAH2):c.10169+3G>A rs872346 0.28090
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_003921.5(BCL10):c.24C>G (p.Leu8=) rs11576939 0.27956
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_015690.5(STK36):c.3008G>A (p.Gly1003Asp) rs1863704 0.27830
NM_024867.4(SPEF2):c.1848T>A (p.Asn616Lys) rs7710284 0.27805
NM_001376256.1(CRYM):c.325-12T>C rs226045 0.27780
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_003803.4(MYOM1):c.1338C>T (p.Asn446=) rs2230167 0.27728
NM_178452.6(DNAAF1):c.1698+7G>T rs3826151 0.27717
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=) rs3192177 0.27555
NM_001282225.2(ADA2):c.1240-5C>G rs3764846 0.27480
NM_080424.4(SP110):c.584-9C>T rs41309096 0.27398
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849 0.27322
NM_004304.5(ALK):c.3375C>A (p.Gly1125=) rs3795850 0.27292
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_003265.3(TLR3):c.1377C>T (p.Phe459=) rs3775290 0.27189
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) rs5735 0.27157
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) rs5734 0.27146
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_004517.4(ILK):c.819G>A (p.Pro273=) rs1043390 0.27055
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_022124.6(CDH23):c.4723= (p.Ala1575=) rs1227051 0.26983
NM_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_001289808.2(CRYAB):c.324+4T>G rs11603779 0.26871
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997 0.26852
NM_015340.4(LARS2):c.1983G>A (p.Thr661=) rs11549809 0.26851
NM_001079.4(ZAP70):c.1482+11G>T rs17488834 0.26795
NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln) rs241448 0.26784
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) rs1881420 0.26767
NM_002458.3(MUC5B):c.101A>G (p.Glu34Gly) rs2672785 0.26755
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_001105206.3(LAMA4):c.651C>T (p.Thr217=) rs2072021 0.26664
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_002661.5(PLCG2):c.297A>G (p.Leu99=) rs1143686 0.26621
NM_022124.6(CDH23):c.429+13= rs3802719 0.26545
NM_002295.6(RPSA):c.519G>A (p.Leu173=) rs2269350 0.26529
NM_033409.4(SLC52A3):c.321C>T (p.Ala107=) rs3746808 0.26517
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_006767.4(LZTR1):c.210G>A (p.Lys70=) rs13054014 0.26457
NM_001366028.2(DNAH12):c.672T>G (p.Asp224Glu) rs6445902 0.26423
NM_002474.3(MYH11):c.2472C>T (p.Ala824=) rs1050113 0.26411
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_002458.3(MUC5B):c.9954C>T (p.Ala3318=) rs200948102 0.26294
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_213607.3(CCDC103):c.*4G>A rs8079308 0.26209
NM_213607.3(CCDC103):c.277-63C>A rs8079610 0.26194
NM_005422.4(TECTA):c.4105+13C>T rs7130952 0.26144
NM_003803.4(MYOM1):c.-9G>A rs1662315 0.26044
NM_014339.7(IL17RA):c.2160C>T (p.Pro720=) rs4819555 0.25992
NM_000774.5(CYP2F1):c.15dup (p.Thr6fs) rs3833221 0.25960
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_005422.4(TECTA):c.2256C>T (p.Ile752=) rs10502247 0.25910
NM_001128840.3(CACNA1D):c.2700C>T (p.Ser900=) rs1045958 0.25881
NM_001101648.2(NPC1L1):c.3634-9A>C rs217428 0.25878
NM_014000.3(VCL):c.2814= (p.Gly938=) rs2131956 0.25852
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn) rs1124 0.25849
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=) rs3741622 0.25778
NM_001290043.2(TAP2):c.1993A>G (p.Thr665Ala) rs241447 0.25756
NM_032119.4(ADGRV1):c.3279= (p.Leu1093=) rs2366777 0.25755
NM_001290043.2(TAP2):c.*30G>T rs241449 0.25754
NM_022124.6(CDH23):c.366= (p.Val122=) rs3802720 0.25715
NM_001146079.2(CLDN14):c.243C>T (p.Arg81=) rs219779 0.25678
NM_001492.6(GDF1):c.-1089T>C rs113536478 0.25589
NM_001290043.2(TAP2):c.1812A>G (p.Gly604=) rs241441 0.25585
NM_000770.3(CYP2C8):c.168+669A>G rs2071426 0.25563
NM_001290043.2(TAP2):c.1932+9C>T rs241442 0.25438
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555 0.25433
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_004415.4(DSP):c.2631= (p.Arg877=) rs1016835 0.25397
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=) rs10057007 0.25350
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924 0.25335
NM_001098668.4(SFTPA2):c.667C>A (p.Gln223Lys) rs1965708 0.25261
NM_178425.4(HDAC9):c.1872A>G (p.Pro624=) rs1178127 0.25219
NM_016616.5(NME8):c.1478T>C (p.Ile493Thr) rs56128139 0.25213
NM_016616.5(NME8):c.1479A>T (p.Ile493=) rs41276027 0.25198
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
NM_001372.4(DNAH9):c.11982A>G (p.Pro3994=) rs2286303 0.25123
NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) rs2293576 0.25113
NM_001372.4(DNAH9):c.12060G>A (p.Thr4020=) rs1859887 0.25098
NM_206933.4(USH2A):c.12612= (p.Thr4204=) rs2797235 0.25079
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_001105206.3(LAMA4):c.5326+6T>G rs3734289 0.24973
NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln) rs9461073 0.24950
NM_001105206.3(LAMA4):c.5326+15A>C rs3734290 0.24942
NM_015541.3(LRIG1):c.1843A>G (p.Met615Val) rs2306272 0.24919
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=) rs10814431 0.24804
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_020529.3(NFKBIA):c.81C>T (p.Asp27=) rs1957106 0.24766
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076 0.24494
NM_001128840.3(CACNA1D):c.6348C>T (p.Asn2116=) rs10154841 0.24426
NM_021129.4(PPA1):c.-11A>C rs7077538 0.24403
NM_001832.4(CLPS):c.84+412C>T rs2766595 0.24394
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392 0.24353
NM_144651.5(PXDNL):c.486A>G (p.Pro162=) rs7837348 0.24268
NM_000628.5(IL10RB):c.139A>G (p.Lys47Glu) rs2834167 0.24240
NM_001372.4(DNAH9):c.12106G>A (p.Asp4036Asn) rs17612861 0.24198
NM_176787.5(PIGN):c.939T>C (p.Asn313=) rs34227891 0.24195
NM_001039141.3(TRIOBP):c.6498C>T (p.Tyr2166=) rs4821708 0.24140
NM_173628.4(DNAH17):c.4500G>A (p.Glu1500=) rs626439 0.24140
NM_019594.4(LRRC8A):c.1014T>C (p.Tyr338=) rs3750320 0.24050
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_133261.3(GIPC3):c.276G>A (p.Leu92=) rs8113232 0.23935
NM_015512.5(DNAH1):c.6957C>T (p.His2319=) rs1546737 0.23926
NM_004850.5(ROCK2):c.3609-11A>C rs2271621 0.23921
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_004069.6(AP2S1):c.267+5G>A rs312186 0.23782
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155 0.23716
NM_032119.4(ADGRV1):c.2367+8= rs2366773 0.23715
NM_182919.4(TICAM1):c.1671C>T (p.Asp557=) rs2292151 0.23686
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_001735.3(C5):c.1155A>G (p.Gly385=) rs10985126 0.23627
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001080467.3(MYO5B):c.3591C>T (p.Tyr1197=) rs3826579 0.23556
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_001101648.2(NPC1L1):c.816C>G (p.Leu272=) rs2072183 0.23523
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NM_178561.5(CTAGE6):c.1091A>C (p.Glu364Ala) rs77246673 0.23481
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=) rs913703 0.23408
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=) rs12464787 0.23390
NM_130897.3(DYNLRB2):c.196C>T (p.Leu66=) rs11866734 0.23375
NM_001039141.3(TRIOBP):c.4116G>T (p.Glu1372Asp) rs8140207 0.23344
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021 0.23311
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_015404.4(WHRN):c.1627-12G>A rs2274160 0.23283
NM_152327.5(AK7):c.305G>A (p.Arg102Gln) rs2275554 0.23276
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_020877.5(DNAH2):c.5010G>A (p.Ala1670=) rs62059684 0.23251
NM_001372106.1(DNAH10):c.10722+4T>C rs1316952 0.23218
NM_001370.2(DNAH6):c.11359+5A>G rs754273 0.23195
NM_001145252.3(CFP):c.1284C>T (p.Asn428=) rs1048118 0.23155
NM_004415.4(DSP):c.2091= (p.Gly697=) rs2076304 0.23152
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_002458.3(MUC5B):c.4797T>C (p.Ser1599=) rs2037089 0.23114
NM_000270.4(PNP):c.285+10A>G rs1713420 0.23096
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_022114.4(PRDM16):c.444C>T (p.Ser148=) rs2282198 0.22946
NM_001366028.2(DNAH12):c.5179T>C (p.Tyr1727His) rs4462937 0.22888
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_001364171.2(ODAD1):c.666-4G>A rs56177753 0.22751
NM_001364171.2(ODAD1):c.1514C>T (p.Pro505Leu) rs35461177 0.22721
NM_003331.5(TYK2):c.1084G>T (p.Val362Phe) rs2304256 0.22701
NM_016616.5(NME8):c.1603T>C (p.Leu535=) rs3213975 0.22683
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336 0.22650
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876 0.22643
NM_012263.5(TTLL1):c.849C>T (p.Asp283=) rs5759125 0.22633
NM_001080467.3(MYO5B):c.3276+11T>C rs2276176 0.22610
NM_004999.4(MYO6):c.2658+17C>T rs2295936 0.22603
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr) rs1800197 0.22589
NM_173628.4(DNAH17):c.5904-15C>T rs11077375 0.22557
NM_004999.4(MYO6):c.*12C>T rs12606 0.22544
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911 0.22509
NM_020433.5(JPH2):c.1728C>G (p.Pro576=) rs74352869 0.22485
NM_153700.2(STRC):c.4878C>G (p.Leu1626=) rs12438025 0.22424
NM_153700.2(STRC):c.4845-13T>C rs12437957 0.22423
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720 0.22399
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) rs34436714 0.22387
NM_002458.3(MUC5B):c.6521A>G (p.Asn2174Ser) rs56726556 0.22366
NM_001135556.2(DYNC1I1):c.1440C>A (p.Gly480=) rs1048666 0.22313
NM_001288962.2(TRIP10):c.*71T>G rs1049232 0.22303
NM_002872.5(RAC2):c.477T>C (p.Ala159=) rs1064498 0.22300
NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) rs738408 0.22297
NM_012263.5(TTLL1):c.720C>T (p.Leu240=) rs1052160 0.22295
NM_012263.5(TTLL1):c.750G>A (p.Glu250=) rs1132079 0.22279
NM_006393.3(NEBL):c.2031G>A (p.Arg677=) rs1006363 0.22278
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421 0.22213
NM_001288962.2(TRIP10):c.*57A>G rs1049229 0.22211
NM_004568.6(SERPINB6):c.268A>G (p.Met90Val) rs2295769 0.22197
NM_001288962.2(TRIP10):c.*59C>T rs1049230 0.22192
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.22185
NM_153700.2(STRC):c.3893A>G (p.His1298Arg) rs2920780 0.22075
NM_002471.4(MYH6):c.411G>A (p.Glu137=) rs2277474 0.22054
NM_001103.4(ACTN2):c.877-8= rs2288601 0.22042
NM_005902.4(SMAD3):c.-15G>A rs1061427 0.22024
NM_004517.4(ILK):c.918C>T (p.Ala306=) rs2292195 0.22020
NM_138691.3(TMC1):c.241G>A (p.Glu81Lys) rs1796993 0.21988
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494 0.21955
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723 0.21902
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653 0.21894
NM_005428.4(VAV1):c.450-13T>C rs347033 0.21889
NM_003246.4(THBS1):c.1567A>G (p.Thr523Ala) rs2292305 0.21845
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_176787.5(PIGN):c.806-7T>A rs61751989 0.21786
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463 0.21770
NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp) rs1567047 0.21721
NM_000548.5(TSC2):c.2546-12C>T rs13331451 0.21707
NM_133261.3(GIPC3):c.593-6C>T rs10426399 0.21701
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_001134363.3(RBM20):c.1527+8C>T rs7077757 0.21586
NM_001366028.2(DNAH12):c.9639G>C (p.Leu3213=) rs12053975 0.21512
NM_182588.3(RGPD4):c.3441A>G (p.Leu1147=) rs832358 0.21509
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) rs1050349 0.21500
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_005535.3(IL12RB1):c.-111A>T rs393548 0.21469
NM_001034853.2(RPGR):c.29-15G>A rs6651585 0.21451
NM_006172.4(NPPA):c.454T>C (p.Ter152Arg) rs5065 0.21442
NM_017576.4(KIF27):c.1973G>A (p.Gly658Glu) rs13289566 0.21442
NM_003803.4(MYOM1):c.1392G>A (p.Arg464=) rs11659820 0.21420
NM_020877.5(DNAH2):c.8972+9G>C rs8073196 0.21412
NM_001267550.2(TTN):c.57315T>C (p.His19105=) rs35833641 0.21406
NM_001714.4(BICD1):c.1704G>C (p.Val568=) rs3748275 0.21377
NM_001206927.2(DNAH8):c.4300T>C (p.Leu1434=) rs1678729 0.21311
NM_003246.4(THBS1):c.1410C>T (p.Asn470=) rs2228261 0.21307
NM_000062.3(SERPING1):c.1438G>A (p.Val480Met) rs4926 0.21304
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_173842.3(IL1RN):c.171T>C (p.Ala57=) rs419598 0.21244
NM_001421.4(ELF4):c.1509G>A (p.Thr503=) rs2181440 0.21216
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_004672.5(MAP3K6):c.1866C>A (p.Asn622Lys) rs35659744 0.21192
NM_001318895.3(FHL2):c.689-12C>G rs2244182 0.21176
NM_000914.5(OPRM1):c.1165-11152C>T rs677830 0.21164
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln) rs1800275 0.21153
NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr) rs3749574 0.21105
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796 0.21080
NM_198129.4(LAMA3):c.6147C>G (p.Ala2049=) rs1154226 0.21073
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_000417.3(IL2RA):c.367+7G>C rs11256369 0.20897
NM_000395.3(CSF2RB):c.1278C>T (p.Ser426=) rs1801117 0.20878
NM_001206927.2(DNAH8):c.8154C>T (p.Tyr2718=) rs4714192 0.20785
NM_000099.4(CST3):c.-72A>C rs73318135 0.20745
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858 0.20726
NM_172245.4(CSF2RA):c.50C>G (p.Ala17Gly) rs67006588 0.20721
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_181507.2(HPS5):c.3058+9A>G rs2049129 0.20713
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=) rs11768670 0.20699
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) rs1049564 0.20682
NM_002458.3(MUC5B):c.8606T>C (p.Met2869Thr) rs80150964 0.20682
NM_001267550.2(TTN):c.11422C>T (p.Pro3808Ser) rs2627037 0.20680
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20608
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391 0.20605
NM_173841.3(IL1RN):c.73+8A>C rs878972 0.20572
NM_014339.7(IL17RA):c.1458C>T (p.Ile486=) rs879575 0.20567
NM_000270.4(PNP):c.171C>T (p.Pro57=) rs1130650 0.20563
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala) rs11004439 0.20535
NM_001145809.2(MYH14):c.3680+9C>T rs76579307 0.20534
NM_173841.3(IL1RN):c.-12G>C rs2234679 0.20534
NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=) rs2293106 0.20517
NM_020975.6(RET):c.2307= (p.Leu769=) rs1800861 0.20453
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20376
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_001372.4(DNAH9):c.6584A>G (p.Asn2195Ser) rs3744581 0.20356
NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713 0.20353
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001146079.2(CLDN14):c.687G>A (p.Thr229=) rs219780 0.20318
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_006206.6(PDGFRA):c.2472C>T (p.Val824=) rs2228230 0.20293
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
NM_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.4051= (p.Asn1351=) rs1227065 0.20031
NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro) rs17704703 0.20017
NM_021930.6(RINT1):c.118A>T (p.Ser40Cys) rs11556986 0.19903
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
NM_001350197.2(EVI5):c.1884G>T (p.Gln628His) rs11808092 0.19828
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr) rs3810510 0.19815
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852 0.19813
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_000540.3(RYR1):c.2979C>T (p.Asn993=) rs2228070 0.19758
NM_001256545.2(MEGF10):c.660-3C>T rs6595769 0.19743
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_001292063.2(OTOG):c.8690G>C (p.Trp2897Ser) rs11024357 0.19620
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_001256545.2(MEGF10):c.1785T>C (p.Pro595=) rs11950427 0.19610
NM_000465.4(BARD1):c.1053G>C (p.Thr351=) rs2070096 0.19573
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282 0.19563
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_199242.3(UNC13D):c.1992+5G>A rs17581728 0.19407
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_017950.4(CCDC40):c.677-4C>G rs2289530 0.19337
NM_003803.4(MYOM1):c.2879T>C (p.Ile960Thr) rs1071600 0.19218
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) rs449643 0.19166
NM_016239.4(MYO15A):c.9518-11T>C rs62073604 0.19159
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_016239.4(MYO15A):c.9486C>T (p.Asp3162=) rs8077577 0.19129
NM_000260.4(MYO7A):c.6558+16G>A rs883224 0.19125
NM_017950.4(CCDC40):c.1159+12C>T rs2289533 0.19106
NM_173628.4(DNAH17):c.3834A>G (p.Leu1278=) rs17729253 0.19095
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_181426.2(CCDC39):c.2397G>A (p.Val799=) rs7612917 0.19015
NM_001167.4(XIAP):c.*12A>G rs28382740 0.18976
NM_001735.3(C5):c.4163-12C>T rs10985112 0.18971
NM_002016.2(FLG):c.1432C>T (p.Pro478Ser) rs11584340 0.18876
NM_001278298.2(COL6A5):c.7765G>A (p.Ala2589Thr) rs73868680 0.18818
NM_002109.6(HARS1):c.1458+7G>A rs58302597 0.18812
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_006383.4(CIB2):c.477C>T (p.Asp159=) rs10456 0.18777
NM_024503.5(HIVEP3):c.3856C>A (p.Arg1286=) rs12132697 0.18757
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_006580.4(CLDN16):c.114+10T>C rs1491994 0.18734
NM_015512.5(DNAH1):c.3964A>C (p.Arg1322=) rs11714402 0.18733
NM_001370.2(DNAH6):c.4354-15C>T rs11676670 0.18729
NM_006580.4(CLDN16):c.-45G>C rs3214506 0.18663
NM_001370.2(DNAH6):c.4611C>T (p.Ile1537=) rs7570005 0.18649
NM_033409.4(SLC52A3):c.800C>T (p.Pro267Leu) rs3746804 0.18642
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter) rs57809907 0.18601
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) rs2290846 0.18590
NM_002114.4(HIVEP1):c.2745T>C (p.Thr915=) rs2228211 0.18531
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617 0.18512
NM_002256.4(KISS1):c.417del (p.Ter139TrpextTer?) rs71745629 0.18485
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_001378609.3(OTOGL):c.5512C>G (p.Leu1838Val) rs7312569 0.18453
NM_001378609.3(OTOGL):c.6402G>T (p.Leu2134Phe) rs11114416 0.18446
NM_001378609.3(OTOGL):c.5984G>A (p.Arg1995Gln) rs11836060 0.18436
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=) rs3816884 0.18399
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His) rs6927567 0.18378
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_017946.4(FKBP14):c.*672C>T rs3793247 0.18308
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769 0.18278
NM_182919.4(TICAM1):c.*10C>T rs1046673 0.18274
NM_001039141.3(TRIOBP):c.-14C>G rs12484441 0.18268
NM_178335.3(CCDC50):c.678A>G (p.Lys226=) rs2028573 0.18258
NM_003803.4(MYOM1):c.4662C>T (p.Ala1554=) rs1143657 0.18160
NM_000085.5(CLCNKB):c.1053+13G>C rs35480349 0.18114
NM_001127453.2(GSDME):c.405-15G>A rs754553 0.18061
NM_032153.6(ZIC4):c.-15-1152G>A rs6766244 0.17985
NM_052934.4(SLC26A9):c.*211A>G rs6669481 0.17973
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17968
NM_000270.4(PNP):c.60C>T (p.His20=) rs1049562 0.17967
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_017763.6(RNF43):c.2309-15G>C rs2158460 0.17956
NM_053025.4(MYLK):c.1651+6T>A rs820329 0.17955
NM_023036.6(DNAI2):c.1483G>A (p.Val495Ile) rs28725418 0.17848
NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) rs2335052 0.17829
NM_001321120.2(TBX4):c.276T>G (p.Ala92=) rs3744447 0.17793
NM_014425.5(INVS):c.-110T>G rs7024375 0.17693
NM_005992.1(TBX1):c.1010-3654C>T rs4819522 0.17674
NM_020458.4(TTC7A):c.1066-13G>A rs13407983 0.17668
NM_001004748.1(OR51A2):c.799G>C (p.Gly267Arg) rs56066301 0.17666
NM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln) rs4614906 0.17664
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) rs2266918 0.17658
NM_173628.4(DNAH17):c.13101T>C (p.Pro4367=) rs36119275 0.17594
NM_173628.4(DNAH17):c.13104G>A (p.Pro4368=) rs35422926 0.17590
NM_001033855.3(DCLRE1C):c.780+10C>T rs35927251 0.17583
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_001256317.3(TMPRSS3):c.*2G>A rs13047838 0.17560
NM_001101648.2(NPC1L1):c.3807T>C (p.Val1269=) rs217434 0.17548
NM_001291303.3(FAT4):c.405C>T (p.Phe135=) rs72928772 0.17506
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) rs3802933 0.17484
NM_000265.7(NCF1):c.153+14= rs707410 0.17451
NM_001384140.1(PCDH15):c.1306-4123C>T rs16905686 0.17435
NM_017576.4(KIF27):c.3439A>G (p.Met1147Val) rs58077086 0.17428
NM_001384140.1(PCDH15):c.4671+1344A>C rs11003863 0.17427
NM_001372.4(DNAH9):c.12106-10C>T rs2286305 0.17418
NM_001372.4(DNAH9):c.13122G>A (p.Met4374Ile) rs1990236 0.17414
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844 0.17402
NM_020549.5(CHAT):c.287-431G>A rs1880676 0.17399
NM_004463.3(FGD1):c.2091T>C (p.Thr697=) rs12011120 0.17397
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_032578.4(MYPN):c.1875C>T (p.Pro625=) rs2673793 0.17340
NM_001127453.2(GSDME):c.489G>A (p.Thr163=) rs754555 0.17320
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) rs2269530 0.17309
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) rs2066843 0.17266
NM_015354.3(NUP188):c.4044+6A>C rs12336276 0.17264
NM_176787.5(PIGN):c.1962G>A (p.Leu654=) rs12326381 0.17264
NM_032415.7(CARD11):c.1599C>T (p.Asp533=) rs1621509 0.17254
NM_176787.5(PIGN):c.1245T>C (p.Asp415=) rs13381627 0.17246
NM_005411.5(SFTPA1):c.186A>G (p.Pro62=) rs1136451 0.17245
NM_032601.4(MCEE):c.311G>T (p.Arg104Leu) rs6748672 0.17242
NM_176787.5(PIGN):c.2010T>C (p.Thr670=) rs17714063 0.17242
NM_001364905.1(LRBA):c.5550T>C (p.Val1850=) rs1129998 0.17226
NM_005535.3(IL12RB1):c.-2C>T rs436857 0.17226
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718 0.17214
NM_198129.4(LAMA3):c.8445C>A (p.Asn2815Lys) rs1154232 0.17201
NM_198173.3(GRHL3):c.165C>G (p.Asp55Glu) rs2486668 0.17201
NM_001458.5(FLNC):c.2265+12C>G rs2291566 0.17192
NM_000234.3(LIG1):c.-7C>T rs20579 0.17185
NM_006531.5(IFT88):c.1122G>A (p.Met374Ile) rs2442455 0.17093
NM_176787.5(PIGN):c.1752G>A (p.Leu584=) rs9319997 0.17086
NM_014208.3(DSPP):c.3221A>G (p.Asp1074Gly) rs202210195 0.17062
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_006073.4(TRDN):c.1370-11C>A rs9401658 0.16989
NM_001256545.2(MEGF10):c.588G>A (p.Gln196=) rs3812055 0.16961
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889 0.16907
NM_001353214.3(DYM):c.-54+34G>C rs60901553 0.16905
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) rs34287852 0.16898
NM_002458.3(MUC5B):c.10572T>C (p.Ser3524=) rs2943518 0.16830
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_176787.5(PIGN):c.1377T>C (p.Ser459=) rs17714875 0.16805
NM_016239.4(MYO15A):c.5212-14C>T rs2072652 0.16745
NM_016239.4(MYO15A):c.6052G>A (p.Gly2018Arg) rs2272571 0.16711
NM_003019.5(SFTPD):c.918T>C (p.Ala306=) rs1051246 0.16660
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_182972.3(IRF2BP2):c.991C>T (p.Leu331=) rs8722 0.16607
NM_015541.3(LRIG1):c.3158A>C (p.Gln1053Pro) rs2279290 0.16583
NM_031475.3(ESPN):c.909C>G (p.Arg303=) rs2311045 0.16572
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val) rs2839500 0.16545
NM_173630.4(RTTN):c.6144A>G (p.Val2048=) rs2304378 0.16509
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly) rs28494009 0.16504
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_004447.6(EPS8):c.2352G>A (p.Leu784=) rs1126786 0.16468
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_001267550.2(TTN):c.104988C>T (p.Val34996=) rs3829748 0.16457
NM_003246.4(THBS1):c.2868T>C (p.Asp956=) rs2228263 0.16438
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_001083116.3(PRF1):c.822C>T (p.Ala274=) rs885821 0.16394
NM_001127453.2(GSDME):c.1200A>G (p.Ala400=) rs17149912 0.16349
NM_002458.3(MUC5B):c.6855G>A (p.Thr2285=) rs4963051 0.16346
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=) rs35112591 0.16327
NM_000073.3(CD3G):c.390T>C (p.Ala130=) rs3753059 0.16289
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000073.3(CD3G):c.391G>T (p.Val131Phe) rs3753058 0.16277
NM_019121.2(PPP1R37):c.1767T>C (p.Pro589=) rs765288398 0.16267
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_001098668.4(SFTPA2):c.271G>C (p.Ala91Pro) rs17886395 0.16203
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491 0.16202
NM_001318895.3(FHL2):c.819C>T (p.Pro273=) rs11124029 0.16120
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val) rs2288021 0.16102
NM_001101648.2(NPC1L1):c.3792C>T (p.Tyr1264=) rs10264715 0.16099
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000246.4(CIITA):c.2394G>A (p.Pro798=) rs2229320 0.16037
NM_001323572.2(CCP110):c.512C>T (p.Pro171Leu) rs3751821 0.16018
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_000090.4(COL3A1):c.1816-14G>C rs7579815 0.15982
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_001103.4(ACTN2):c.783+22G>A rs2288600 0.15846
NM_000257.4(MYH7):c.1128C>T (p.Asp376=) rs2231126 0.15761
NM_001458.5(FLNC):c.7221C>T (p.Asp2407=) rs3816885 0.15729
NM_153700.2(STRC):c.3702G>A (p.Glu1234=) rs62018890 0.15683
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_015512.5(DNAH1):c.11402G>A (p.Gly3801Asp) rs12163565 0.15635
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_001098671.2(RASGRP2):c.1173+12C>T rs10897524 0.15589
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=) rs2857265 0.15539
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) rs3731748 0.15537
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=) rs2291568 0.15512
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15505
NM_033004.4(NLRP1):c.114G>C (p.Ser38=) rs884367 0.15491
NM_001369369.1(FOXN1):c.1135+8C>T rs2286521 0.15430
NM_020529.3(NFKBIA):c.306C>T (p.Ala102=) rs1050851 0.15413
NM_002458.3(MUC5B):c.8586A>C (p.Pro2862=) rs4046509 0.15407
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_144573.4(NEXN):c.733G>A (p.Gly245Arg) rs1166698 0.15380
NM_001323572.2(CCP110):c.1299G>A (p.Ala433=) rs7191012 0.15377
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767 0.15364
NM_016239.4(MYO15A):c.5649+14G>A rs2072653 0.15358
NM_022124.6(CDH23):c.9077+8G>A rs11818398 0.15161
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_198129.4(LAMA3):c.8731C>T (p.Leu2911=) rs1131521 0.15145
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001365276.2(TNXB):c.10723T>C (p.Ser3575Pro) rs62402693 0.15045
NM_001292063.2(OTOG):c.7480+11A>T rs12277962 0.15041
NM_174934.4(SCN4B):c.62-95C>T rs955917 0.15029
NM_016123.4(IRAK4):c.1282G>A (p.Ala428Thr) rs4251545 0.15022
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923 0.15011
NM_000250.2(MPO):c.2031-6A>C rs2071409 0.14966
NM_001145809.2(MYH14):c.91C>A (p.Pro31Thr) rs590722 0.14959
NM_001365276.2(TNXB):c.2761T>G (p.Ser921Ala) rs204900 0.14952
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg) rs12670130 0.14853
NM_002458.3(MUC5B):c.10527G>T (p.Leu3509=) rs2943525 0.14829
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894 0.14770
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_001323572.2(CCP110):c.1125G>A (p.Met375Ile) rs7190666 0.14701
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_004463.3(FGD1):c.2136A>G (p.Pro712=) rs1126744 0.14669
NM_001370.2(DNAH6):c.7649T>C (p.Val2550Ala) rs78190897 0.14668
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_001364171.2(ODAD1):c.1606G>T (p.Ala536Ser) rs61747754 0.14598
NM_001164508.2(NEB):c.13788+12C>G rs876657543 0.14589
NM_022124.6(CDH23):c.5503-10A>G rs2394839 0.14568
NM_001284292.2(NUTM1):c.-35G>C rs73376010 0.14554
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_001709.5(BDNF):c.196G>A (p.Val66Met) rs6265 0.14533
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_001145809.2(MYH14):c.2827-9A>C rs3745503 0.14515
NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile) rs1800454 0.14502
NM_006767.4(LZTR1):c.1683C>T (p.Arg561=) rs4822790 0.14494
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_031229.4(RBCK1):c.261+15G>T rs11698154 0.14404
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=) rs2338436 0.14399
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14386
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043 0.14339
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051 0.14310
NM_001206927.2(DNAH8):c.13462A>G (p.Ile4488Val) rs10484847 0.14280
NM_032122.5(DTNBP1):c.356-7C>T rs3829893 0.14250
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_020877.5(DNAH2):c.294T>C (p.His98=) rs11867551 0.14235
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu) rs3795958 0.14109
NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu) rs2291627 0.14091
NM_001206927.2(DNAH8):c.12451+13A>G rs10947765 0.14048
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001999.4(FBN2):c.6511+15A>G rs56131649 0.14023
NM_002458.3(MUC5B):c.8489C>T (p.Pro2830Leu) rs139960671 0.13997
NM_181507.2(HPS5):c.1165-15C>A rs7128146 0.13983
NM_002114.4(HIVEP1):c.5744A>G (p.Gln1915Arg) rs1126472 0.13965
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_002458.3(MUC5B):c.10845C>T (p.Leu3615=) rs2943523 0.13875
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13859
NM_001292063.2(OTOG):c.3408+15C>T rs7936484 0.13858
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_001277115.2(DNAH11):c.11202+13G>A rs73279830 0.13824
NM_001034853.2(RPGR):c.1245+16A>G rs5918522 0.13807
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192 0.13807
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017 0.13791
NM_001292063.2(OTOG):c.3188G>A (p.Arg1063Gln) rs11024333 0.13789
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118 0.13734
NM_001323572.2(CCP110):c.366A>G (p.Thr122=) rs10492785 0.13722
NM_017849.4(TMEM127):c.621G>A (p.Ala207=) rs3852673 0.13717
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_002458.3(MUC5B):c.7877C>G (p.Thr2626Arg) rs3021158 0.13667
NM_016616.5(NME8):c.840A>G (p.Arg280=) rs62001868 0.13654
NM_017576.4(KIF27):c.3106A>G (p.Asn1036Asp) rs55654273 0.13639
NM_017576.4(KIF27):c.637A>G (p.Ile213Val) rs12001918 0.13627
NM_004667.6(HERC2):c.7594G>A (p.Val2532Met) rs74005645 0.13617
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001942.4(DSG1):c.2522A>T (p.Tyr841Phe) rs3752095 0.13571
NM_203447.4(DOCK8):c.1692T>C (p.Tyr564=) rs10972587 0.13521
NM_001292063.2(OTOG):c.1087A>T (p.Thr363Ser) rs7130190 0.13498
NM_001347886.2(DNAH3):c.4557C>G (p.Ile1519Met) rs330150 0.13485
NM_002458.3(MUC5B):c.5666C>T (p.Pro1889Leu) rs2943510 0.13460
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700 0.13432
NM_174858.3(AK5):c.1059+12C>T rs1532507 0.13404
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472 0.13352
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) rs758506 0.13313
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_002185.5(IL7R):c.495C>T (p.His165=) rs2228141 0.13289
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_173628.4(DNAH17):c.3659G>A (p.Arg1220His) rs61744544 0.13251
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
NM_000211.5(ITGB2):c.328+15G>A rs5030668 0.13213
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg) rs117385282 0.13197
NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr) rs5917557 0.13157
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116 0.13007
NM_001321120.2(TBX4):c.1449C>T (p.Val483=) rs2270150 0.12999
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_001114086.2(CLIC5):c.522G>A (p.Glu174=) rs3734207 0.12968
NM_005428.4(VAV1):c.322-8C>T rs28617395 0.12963
NM_017433.5(MYO3A):c.3112-4T>C rs16926628 0.12937
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) rs2227973 0.12928
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_001292063.2(OTOG):c.917C>A (p.Ala306Asp) rs61611064 0.12907
NM_005148.4(UNC119):c.*1C>T rs2070139 0.12907
NM_001365276.2(TNXB):c.7483G>A (p.Gly2495Ser) rs2269429 0.12889
NM_023036.6(DNAI2):c.834C>T (p.Thr278=) rs34159194 0.12850
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_004006.3(DMD):c.837G>A (p.Thr279=) rs1800265 0.12849
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984 0.12823
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032 0.12815
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_004006.3(DMD):c.1635A>G (p.Arg545=) rs5927083 0.12751
NM_173628.4(DNAH17):c.3302C>G (p.Ala1101Gly) rs61741523 0.12730
NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser) rs6834 0.12646
NM_032578.4(MYPN):c.1869C>A (p.Thr623=) rs61854624 0.12645
NM_173628.4(DNAH17):c.11857C>T (p.His3953Tyr) rs61742072 0.12590
NM_206933.4(USH2A):c.11389+9A>T rs12095085 0.12571
NM_213607.3(CCDC103):c.276+6T>C rs74349463 0.12539
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) rs2071543 0.12521
NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=) rs11914 0.12487
NM_001286445.3(RIPOR2):c.3043+9T>A rs9379693 0.12477
NM_001098671.2(RASGRP2):c.1749C>A (p.Gly583=) rs2230414 0.12455
NM_001013703.4(EIF2AK4):c.3916G>T (p.Gly1306Cys) rs35602605 0.12451
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_002458.3(MUC5B):c.6780A>G (p.Arg2260=) rs12286473 0.12427
NM_153676.4(USH1C):c.2490+12G>C rs2072232 0.12422
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu) rs3858340 0.12393
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) rs3815076 0.12385
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_004281.4(BAG3):c.1002T>G (p.Pro334=) rs3858339 0.12375
NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) rs34562254 0.12363
NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr) rs35211496 0.12362
NM_001256317.3(TMPRSS3):c.331G>A (p.Gly111Ser) rs35227181 0.12359
NM_001206927.2(DNAH8):c.1549T>C (p.Tyr517His) rs61748600 0.12351
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_006254.4(PRKCD):c.180T>C (p.Asp60=) rs2230493 0.12323
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_000215.4(JAK3):c.1701+9A>G rs3212752 0.12273
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly) rs1782360 0.12249
NM_001080467.3(MYO5B):c.4464G>A (p.Leu1488=) rs2276170 0.12248
NM_000631.5(NCF4):c.897G>A (p.Ser299=) rs11552115 0.12239
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246 0.12235
NM_001458.5(FLNC):c.1032C>T (p.Val344=) rs2291562 0.12206
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=) rs4392792 0.12205
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926 0.12190
NM_001768.7(CD8A):c.565T>C (p.Leu189=) rs3020726 0.12181
NM_005411.5(SFTPA1):c.117C>T (p.His39=) rs72659390 0.12124
NM_001039213.4(CEACAM16):c.114G>A (p.Thr38=) rs894189 0.12083
NM_000631.5(NCF4):c.735C>T (p.Tyr245=) rs2072712 0.12064
NM_020964.3(EPG5):c.544A>G (p.Lys182Glu) rs59422275 0.11994
NM_002458.3(MUC5B):c.151C>T (p.Arg51Trp) rs2075853 0.11988
NM_004086.3(COCH):c.239+78T>C rs2239581 0.11966
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg) rs438999 0.11951
NM_001099772.2(CYP4B1):c.884_885del (p.Asp295fs) rs3215983 0.11936
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met) rs60684213 0.11874
NM_000063.6(C2):c.1023G>A (p.Ala341=) rs1042663 0.11857
NM_181458.4(PAX3):c.1174-10G>C rs2855268 0.11848
NM_001458.5(FLNC):c.1458C>A (p.Pro486=) rs2291563 0.11830
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_001927.4(DES):c.93= (p.Ser31=) rs2017800 0.11799
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=) rs2072220 0.11781
NM_001131034.4(RNF212):c.247-2861C>T rs60035268 0.11779
NM_182972.3(IRF2BP2):c.1410C>T (p.Gly470=) rs7543281 0.11693
NM_001270974.2(HYDIN):c.-120T>C rs3743953 0.11686
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134 0.11626
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) rs13332514 0.11601
NM_001292063.2(OTOG):c.8213G>A (p.Arg2738Gln) rs12422210 0.11601
NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His) rs9488991 0.11561
NM_003283.6(TNNT1):c.47-13C>T rs11669534 0.11553
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_001372106.1(DNAH10):c.9815+9C>T rs75558206 0.11539
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) rs17853498 0.11527
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_001025603.2(RFX5):c.1226C>G (p.Pro409Arg) rs2233854 0.11448
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) rs3209441 0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_001292063.2(OTOG):c.7645C>T (p.Leu2549=) rs11024350 0.11420
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_003246.4(THBS1):c.1290G>A (p.Lys430=) rs2229364 0.11412
NM_020638.3(FGF23):c.716C>T (p.Thr239Met) rs7955866 0.11385
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys) rs62441683 0.11359
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_001367479.1(DNAH14):c.10746T>A (p.Ile3582=) rs12742757 0.11302
NM_002114.4(HIVEP1):c.3221A>G (p.Asn1074Ser) rs2228220 0.11302
NM_173628.4(DNAH17):c.8505C>T (p.Asp2835=) rs61746438 0.11258
NM_001367479.1(DNAH14):c.9250A>G (p.Asn3084Asp) rs10495237 0.11250
NM_080424.4(SP110):c.1815+14A>G rs34034766 0.11238
NM_173628.4(DNAH17):c.13125C>T (p.Tyr4375=) rs1134541 0.11233
NM_001177316.2(SLC34A3):c.1094-10T>A rs35535797 0.11228
NM_031471.6(FERMT3):c.1080-24C>T rs11231726 0.11168
NM_003672.4(CDC14A):c.990G>A (p.Ser330=) rs2270694 0.11151
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_032578.4(MYPN):c.1178T>C (p.Val393Ala) rs11596653 0.11086
NM_001458.5(FLNC):c.720T>C (p.Ile240=) rs2291560 0.11080
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=) rs3747408 0.11046
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_002458.3(MUC5B):c.6600A>G (p.Arg2200=) rs59373058 0.10997
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_031471.6(FERMT3):c.161-16C>G rs78038516 0.10980
NM_001458.5(FLNC):c.795T>C (p.Gly265=) rs2291561 0.10971
NM_001460.5(FMO2):c.337del (p.Ser112_Val113insTer) rs28369860 0.10965
NM_001243133.2(NLRP3):c.657C>T (p.Thr219=) rs7525979 0.10943
NM_005422.4(TECTA):c.5634C>T (p.Ser1878=) rs2155369 0.10906
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085 0.10905
NM_024027.5(COLEC11):c.203-11475G>A rs10170348 0.10902
NM_001370.2(DNAH6):c.5081G>C (p.Gly1694Ala) rs28375417 0.10898
NM_018833.3(TAP2):c.1939C>T (p.Leu647Phe) rs16870908 0.10895
NM_001735.3(C5):c.1461C>T (p.Thr487=) rs2230214 0.10877
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_001370.2(DNAH6):c.2547A>G (p.Gln849=) rs1006244 0.10862
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys) rs41305539 0.10827
NM_000065.5(C6):c.-12G>A rs2305060 0.10810
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_006416.5(SLC35A1):c.887-14T>C rs56136150 0.10768
NM_003803.4(MYOM1):c.66G>C (p.Val22=) rs1662316 0.10760
NM_000285.4(PEPD):c.1131C>T (p.His377=) rs17569 0.10725
NM_003002.4(SDHD):c.*803A>G rs17113461 0.10714
NM_001370.2(DNAH6):c.7353A>G (p.Thr2451=) rs1192295 0.10691
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_001355526.2(EFCAB10):c.384-23T>G rs864687 0.10655
NM_001206927.2(DNAH8):c.13215-15C>T rs12210777 0.10623
NM_052934.4(SLC26A9):c.*423A>G rs9438438 0.10623
NM_002458.3(MUC5B):c.6073G>A (p.Ala2025Thr) rs34739266 0.10621
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_001142854.2(SPATC1L):c.893G>A (p.Ser298Asn) rs14378 0.10608
NM_020964.3(EPG5):c.7558-11G>A rs57761448 0.10601
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser) rs10281879 0.10561
NM_152363.6(ANKLE1):c.*132G>T rs371454519 0.10539
NM_015331.3(NCSTN):c.636A>G (p.Leu212=) rs12239747 0.10503
NM_005228.5(EGFR):c.2709= (p.Thr903=) rs1140475 0.10499
NM_001352000.1(LOC110384692):c.3527= (p.Asn1176=) rs2746414 0.10496
NM_002474.3(MYH11):c.417C>T (p.Val139=) rs1050111 0.10480
NM_000085.5(CLCNKB):c.656-105G>A rs11588392 0.10476
NM_001277115.2(DNAH11):c.3256-10C>G rs17745898 0.10468
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10451
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_001039141.3(TRIOBP):c.6324+226A>G rs57799594 0.10409
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563 0.10382
NM_080424.4(SP110):c.1731C>T (p.Cys577=) rs13018234 0.10366
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_052934.4(SLC26A9):c.2243A>G (p.His748Arg) rs16856462 0.10343
NM_002458.3(MUC5B):c.11105C>T (p.Thr3702Met) rs34528873 0.10320
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000562.3(C8A):c.1503T>C (p.Pro501=) rs1754533 0.10317
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_000562.3(C8A):c.1455C>T (p.Arg485=) rs1620073 0.10307
NM_000562.3(C8A):c.1681G>C (p.Glu561Gln) rs1342440 0.10306
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_000092.5(COL4A4):c.-2C>T rs2228558 0.10292
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070 0.10250
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_001136219.3(FCGR2A):c.188A>G (p.Gln63Arg) rs9427398 0.10243
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp) rs4253527 0.10197
NM_139343.3(BIN1):c.775-4G>A rs61748157 0.10181
NM_033409.4(SLC52A3):c.456C>T (p.Pro152=) rs3746807 0.10172
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001734.5(C1S):c.1167A>G (p.Pro389=) rs1143664 0.10163
NM_001927.4(DES):c.75= (p.Pro25=) rs1318299 0.10153
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_032578.4(MYPN):c.1251G>A (p.Gln417=) rs10997948 0.10147
NM_001017365.3(C4BPB):c.410-9T>C rs3813948 0.10134
NM_000603.5(NOS3):c.1752+899G>A rs79467411 0.10130
NM_017433.5(MYO3A):c.1743G>A (p.Glu581=) rs41279908 0.10116
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536 0.10108
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_005510.4(DXO):c.744A>G (p.Pro248=) rs35337578 0.10065
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264 0.10047
NM_000395.3(CSF2RB):c.745G>C (p.Glu249Gln) rs16845 0.10045
NM_005510.4(DXO):c.783C>A (p.His261Gln) rs17207867 0.10015
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001292063.2(OTOG):c.237C>T (p.Ser79=) rs11823045 0.09978
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=) rs2285942 0.09968
NM_001127391.3(FLACC1):c.1122G>A (p.Thr374=) rs17468277 0.09957
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_017950.4(CCDC40):c.873C>T (p.Phe291=) rs2289531 0.09951
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=) rs2291312 0.09947
NM_001136219.3(FCGR2A):c.365-11G>A rs7529425 0.09887
NM_003672.4(CDC14A):c.309A>C (p.Ala103=) rs28361212 0.09875
NM_001035.3(RYR2):c.849-8T>C rs16835237 0.09863
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn) rs33980500 0.09825
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046 0.09802
NM_005535.3(IL12RB1):c.387G>C (p.Val129=) rs11086087 0.09792
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_080680.3(COL11A2):c.1179+10G>A rs2744507 0.09775
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430 0.09772
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635 0.09752
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=) rs2228072 0.09736
NM_001371333.1(DIABLO):c.690G>A (p.Ser230=) rs35426428 0.09717
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678 0.09671
NM_001164508.2(NEB):c.6184-14T>A rs10173335 0.09664
NM_138420.4(AHNAK2):c.6509A>G (p.Lys2170Arg) rs201127689 0.09663
NM_000569.8(FCGR3A):c.194G>A (p.Ser65Asn) rs77144485 0.09640
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_001611.5(ACP5):c.442G>A (p.Val148Met) rs2305799 0.09611
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001384140.1(PCDH15):c.157+3A>G rs41274636 0.09581
NM_001734.5(C1S):c.441C>T (p.Cys147=) rs7965055 0.09577
NM_001330691.3(CEP78):c.1542C>T (p.Ile514=) rs1057650 0.09570
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_181426.2(CCDC39):c.2301G>A (p.Leu767=) rs11914833 0.09489
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_001611.5(ACP5):c.225C>T (p.Phe75=) rs62638747 0.09420
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345 0.09409
NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=) rs10491684 0.09400
NM_001376256.1(CRYM):c.490-12C>T rs226052 0.09394
NM_017433.5(MYO3A):c.480G>T (p.Thr160=) rs12257119 0.09365
NM_003803.4(MYOM1):c.660T>C (p.Ser220=) rs2230166 0.09353
NM_001034853.2(RPGR):c.1572+11A>G rs62635008 0.09352
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_033118.4(MYLK2):c.1710+15A>G rs6060980 0.09349
NM_033380.3(COL4A5):c.2768-11A>G rs1006269 0.09324
NM_001458.5(FLNC):c.147C>T (p.His49=) rs3734972 0.09267
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val) rs3746802 0.09243
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_004316.4(ASCL1):c.627C>G (p.Val209=) rs731682 0.09226
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09206
NM_033118.4(MYLK2):c.684T>C (p.Ile228=) rs6058469 0.09162
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=) rs6732060 0.09129
NM_001127198.5(TMC6):c.457C>T (p.Leu153Phe) rs12449858 0.09127
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_001145809.2(MYH14):c.1483-10G>A rs73061136 0.09105
NM_000416.3(IFNGR1):c.862-4A>G rs3799488 0.09069
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826 0.09056
NM_153676.4(USH1C):c.1086-12G>A rs11024318 0.09048
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_172166.4(MSH5):c.85C>T (p.Pro29Ser) rs2075789 0.09003
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907 0.08987
NM_001136219.3(FCGR2A):c.187C>T (p.Gln63Ter) rs9427397 0.08981
NM_003902.5(FUBP1):c.1042-8C>G rs2274257 0.08966
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08958
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08958
NM_000023.4(SGCA):c.933C>T (p.Val311=) rs1801191 0.08920
NM_032229.3(SLITRK6):c.1241A>G (p.Gln414Arg) rs17080147 0.08910
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_032119.4(ADGRV1):c.18625-7= rs7726023 0.08864
NM_001034853.2(RPGR):c.2223G>A (p.Glu741=) rs147619484 0.08849
NM_001369369.1(FOXN1):c.852T>C (p.Leu284=) rs12449554 0.08836
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_002471.4(MYH6):c.3388G>A (p.Ala1130Thr) rs28730771 0.08821
NM_001136219.3(FCGR2A):c.645A>G (p.Pro215=) rs11810143 0.08818
NM_006393.3(NEBL):c.2997A>G (p.Thr999=) rs2296614 0.08806
NM_005379.4(MYO1A):c.2987C>T (p.Thr996Ile) rs17119344 0.08795
NM_001318895.3(FHL2):c.804C>T (p.Asp268=) rs3087523 0.08785
NM_000540.3(RYR1):c.7527G>A (p.Val2509=) rs2071088 0.08780
NM_080424.4(SP110):c.619G>A (p.Glu207Lys) rs9061 0.08779
NM_001458.5(FLNC):c.4056C>T (p.Arg1352=) rs75770585 0.08775
NM_016616.5(NME8):c.219G>A (p.Val73=) rs3213976 0.08754
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_001725.3(BPI):c.534G>C (p.Val178=) rs5743507 0.08711
NM_001204.7(BMPR2):c.2811G>A (p.Arg937=) rs1061157 0.08705
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val) rs61749058 0.08699
NM_001611.5(ACP5):c.598G>A (p.Val200Met) rs2229531 0.08684
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354 0.08679
NM_173628.4(DNAH17):c.12627G>A (p.Pro4209=) rs3209030 0.08659
NM_201384.3(PLEC):c.3261-13G>A rs11991798 0.08644
NM_001388492.1(HTT):c.105_106del (p.Gln36fs) rs751281707 0.08640
NM_001136219.3(FCGR2A):c.879C>T (p.Pro293=) rs12029217 0.08621
NM_001105206.3(LAMA4):c.1710T>C (p.Ser570=) rs3752577 0.08618
NM_181688.3(KRTAP10-10):c.300T>C (p.Cys100=) rs61029972 0.08614
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600
NM_006892.4(DNMT3B):c.-6-176C>T rs6058885 0.08596
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
NM_017433.5(MYO3A):c.-15T>A rs11014875 0.08552
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398 0.08547
NM_145038.5(DRC1):c.1897G>T (p.Val633Phe) rs12623642 0.08537
NM_020433.5(JPH2):c.1179C>T (p.His393=) rs7268512 0.08526
NM_172245.4(CSF2RA):c.*9G>A rs2229236 0.08526
NM_002421.4(MMP1):c.315G>A (p.Gly105=) rs10488 0.08516
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_001256317.3(TMPRSS3):c.157G>A (p.Val53Ile) rs928302 0.08425
NM_004817.4(TJP2):c.1137A>G (p.Leu379=) rs17062695 0.08425
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_130810.4(DNAAF4):c.1259C>G (p.Ser420Cys) rs77641439 0.08293
NM_001372106.1(DNAH10):c.5525C>T (p.Thr1842Met) rs34934281 0.08278
NM_001290043.2(TAP2):c.1308C>T (p.Asn436=) rs1042116 0.08275
NM_022124.6(CDH23):c.-1C>T rs41281302 0.08269
NM_015512.5(DNAH1):c.6139-15G>A rs746239 0.08259
NM_000417.3(IL2RA):c.84G>A (p.Pro28=) rs2228150 0.08221
NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala) rs1059047 0.08215
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08189
NM_001135556.2(DYNC1I1):c.108+7C>G rs41278809 0.08179
NM_000432.4(MYL2):c.132T>C (p.Ile44=) rs2301610 0.08171
NM_000593.6(TAP1):c.-34G>A rs2071536 0.08168
NM_018897.3(DNAH7):c.3059T>C (p.Ile1020Thr) rs62623378 0.08141
NM_024503.5(HIVEP3):c.7126C>T (p.Pro2376Ser) rs72669005 0.08118
NM_024867.4(SPEF2):c.1498G>A (p.Asp500Asn) rs34708521 0.08098
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_172166.4(MSH5):c.1716C>T (p.Thr572=) rs3115672 0.08040
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.08024
NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser) rs13213314 0.08023
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_017433.5(MYO3A):c.624C>T (p.Asp208=) rs35010955 0.08016
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585 0.07991
NM_001372106.1(DNAH10):c.9030A>G (p.Lys3010=) rs6488908 0.07954
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243 0.07919
NM_020458.4(TTC7A):c.300C>T (p.Ser100=) rs61738825 0.07874
NM_001127453.2(GSDME):c.619G>A (p.Val207Met) rs12540919 0.07873
NM_000193.4(SHH):c.-125G>A rs9333594 0.07860
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_002471.4(MYH6):c.4011G>A (p.Ser1337=) rs451794 0.07834
NM_001369369.1(FOXN1):c.205C>T (p.Arg69Cys) rs2071587 0.07832
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_001378609.3(OTOGL):c.3333G>T (p.Gln1111His) rs10862089 0.07827
NM_203447.4(DOCK8):c.1790C>T (p.Ala597Val) rs17673268 0.07826
NM_001105206.3(LAMA4):c.1357+4G>T rs6917763 0.07821
NM_002471.4(MYH6):c.4980C>T (p.Asp1660=) rs382872 0.07807
NM_015512.5(DNAH1):c.7151A>G (p.Asn2384Ser) rs56002041 0.07792
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_002471.4(MYH6):c.5259C>T (p.Ala1753=) rs8004990 0.07782
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile) rs12688514 0.07772
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_033124.5(CCDC65):c.1026+8_1026+9del rs146370108 0.07733
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427 0.07727
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733 0.07717
NM_015512.5(DNAH1):c.10881C>A (p.Val3627=) rs11708581 0.07706
NM_003803.4(MYOM1):c.644C>T (p.Thr215Met) rs2230165 0.07696
NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu) rs111287837 0.07629
NM_004700.4(KCNQ4):c.873G>A (p.Pro291=) rs12117176 0.07614
NM_004700.4(KCNQ4):c.879A>G (p.Thr293=) rs12143503 0.07598
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_000492.4(CFTR):c.869+11C>T rs1800503 0.07590
NM_001080476.3(GRXCR1):c.140C>T (p.Ala47Val) rs57655409 0.07551
NM_001372106.1(DNAH10):c.9199+9G>A rs114772660 0.07540
NM_000542.5(SFTPB):c.843C>T (p.Asp281=) rs3024810 0.07523
NM_001378609.3(OTOGL):c.3480T>C (p.Cys1160=) rs12316424 0.07517
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475 0.07481
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_002109.6(HARS1):c.588C>T (p.Cys196=) rs2230361 0.07468
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_144997.7(FLCN):c.871+36G>A rs3744124 0.07420
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_001145809.2(MYH14):c.1755C>T (p.Gly585=) rs61731838 0.07411
NM_001080467.3(MYO5B):c.3962G>A (p.Gly1321Glu) rs1942418 0.07389
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_033518.4(SLC38A5):c.1352T>C (p.Met451Thr) rs17281188 0.07373
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_001370.2(DNAH6):c.9753G>A (p.Leu3251=) rs1192344 0.07310
NM_001085.5(SERPINA3):c.303A>G (p.Lys101=) rs17826465 0.07285
NM_001164508.2(NEB):c.25150+12G>A rs4414676 0.07283
NM_002473.6(MYH9):c.4899G>A (p.Arg1633=) rs5756130 0.07263
NM_001379180.1(ESRRB):c.144C>A (p.Ile48=) rs35544003 0.07261
NM_018076.5(ODAD2):c.1028T>C (p.Ile343Thr) rs4405206 0.07261
NM_002474.3(MYH11):c.2208C>T (p.Ile736=) rs12931799 0.07252
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_016599.5(MYOZ2):c.459A>G (p.Glu153=) rs7687613 0.07218
NM_052934.4(SLC26A9):c.2085G>A (p.Val695=) rs16856470 0.07210
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=) rs12272086 0.07159
NM_004817.4(TJP2):c.2880+95A>G rs77236826 0.07154
NM_001768.7(CD8A):c.279G>A (p.Arg93=) rs2229240 0.07149
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442 0.07121
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747 0.07116
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_080424.4(SP110):c.383C>T (p.Ala128Val) rs11556887 0.07082
NM_000540.3(RYR1):c.6039A>G (p.Lys2013=) rs2228068 0.07074
NM_001384474.1(LOXHD1):c.5399+13G>A rs59128481 0.07068
NM_000092.5(COL4A4):c.2384-5T>C rs3769641 0.07065
NM_005548.3(KARS1):c.75A>G (p.Arg25=) rs5030748 0.07063
NM_006941.4(SOX10):c.18C>T (p.Asp6=) rs149435516 0.07056
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_203447.4(DOCK8):c.3234+8del rs112565335 0.07045
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_144997.7(FLCN):c.397-13G>A rs3744123 0.07012
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06993
NM_002471.4(MYH6):c.393G>A (p.Leu131=) rs17277970 0.06973
NM_001103.4(ACTN2):c.378= (p.Asn126=) rs1341863 0.06968
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=) rs11554400 0.06936
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284 0.06918
NM_006397.3(RNASEH2A):c.550-11T>C rs7247253 0.06913
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188 0.06909
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_006397.3(RNASEH2A):c.462G>A (p.Gln154=) rs7257575 0.06903
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_001105206.3(LAMA4):c.4716C>T (p.Leu1572=) rs35679345 0.06874
NM_005896.4(IDH1):c.315C>T (p.Gly105=) rs11554137 0.06870
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.06843
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001177316.2(SLC34A3):c.200G>A (p.Arg67His) rs34372115 0.06817
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_020778.5(ALPK3):c.3711C>T (p.Asp1237=) rs35931910 0.06807
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_017433.5(MYO3A):c.660C>T (p.Ala220=) rs34067308 0.06790
NM_014000.3(VCL):c.768T>C (p.Asp256=) rs56413529 0.06776
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_002661.5(PLCG2):c.1188C>G (p.Thr396=) rs13333716 0.06770
NM_014000.3(VCL):c.339G>A (p.Arg113=) rs56314318 0.06767
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_057176.3(BSND):c.177+11G>A rs78904893 0.06761
NM_001032283.3(TMPO):c.565+2214C>G rs17459334 0.06758
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_014000.3(VCL):c.1407C>T (p.Ala469=) rs2229507 0.06739
NM_014000.3(VCL):c.1506G>A (p.Arg502=) rs2228373 0.06736
NM_001290043.2(TAP2):c.1800A>C (p.Val600=) rs2229527 0.06729
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737 0.06659
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=) rs2742343 0.06625
NM_182925.5(FLT4):c.507G>T (p.Leu169=) rs3736061 0.06624
NM_007315.4(STAT1):c.63T>C (p.Leu21=) rs2066802 0.06562
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_030662.4(MAP2K2):c.192C>T (p.Val64=) rs8157 0.06496
NM_001005242.3(PKP2):c.2167+7C>T rs74072938 0.06473
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_002458.3(MUC5B):c.16713+10G>A rs2249686 0.06471
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_000128.4(F11):c.429C>T (p.Asp143=) rs5973 0.06445
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met) rs35655964 0.06422
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270 0.06417
NM_000091.5(COL4A3):c.1576-15T>G rs56243460 0.06412
NM_000395.3(CSF2RB):c.1569-13T>G rs16997510 0.06392
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_002458.3(MUC5B):c.12537G>C (p.Gln4179His) rs185838223 0.06351
NM_018897.3(DNAH7):c.5560A>G (p.Ile1854Val) rs62623593 0.06309
NM_003803.4(MYOM1):c.192G>T (p.Ala64=) rs9964300 0.06307
NM_001142854.2(SPATC1L):c.577G>A (p.Ala193Thr) rs113146399 0.06300
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala) rs13336804 0.06290
NM_002474.3(MYH11):c.2079C>T (p.Phe693=) rs34287137 0.06287
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=) rs111787313 0.06277
NM_000246.4(CIITA):c.2565G>A (p.Ala855=) rs2229321 0.06266
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu) rs13330686 0.06264
NM_000260.4(MYO7A):c.593-5C>T rs762666 0.06264
NM_012079.6(DGAT1):c.743C>A (p.Thr248Asn) rs55962377 0.06259
NM_001195263.2(PDZD7):c.2049G>A (p.Pro683=) rs34693310 0.06258
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_003019.5(SFTPD):c.868T>A (p.Ser290Thr) rs3088308 0.06243
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.06229
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=) rs78736275 0.06219
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser) rs33947968 0.06209
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_001145809.2(MYH14):c.1149T>C (p.Phe383=) rs61734424 0.06194
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657 0.06188
NM_033409.4(SLC52A3):c.645C>T (p.Pro215=) rs6054605 0.06184
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) rs12720356 0.06169
NM_001142854.2(SPATC1L):c.691G>A (p.Glu231Lys) rs113710653 0.06164
NM_001039141.3(TRIOBP):c.5488-7del rs34655947 0.06161
NM_001039141.3(TRIOBP):c.5550G>A (p.Val1850=) rs11704996 0.06152
NM_002474.3(MYH11):c.2061C>T (p.Ser687=) rs880071 0.06148
NM_021147.5(CCNO):c.382-14C>G rs72749883 0.06145
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_052872.4(IL17F):c.377A>G (p.Glu126Gly) rs2397084 0.06132
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_003672.4(CDC14A):c.825C>T (p.Ala275=) rs7543221 0.06126
NM_002654.6(PKM):c.438C>T (p.Asn146=) rs10514 0.06123
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360 0.06109
NM_005896.4(IDH1):c.532G>A (p.Val178Ile) rs34218846 0.06102
NM_005411.5(SFTPA1):c.399A>G (p.Thr133=) rs1059057 0.06094
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_152732.5(RSPH9):c.781G>A (p.Val261Ile) rs16896629 0.06068
NM_002458.3(MUC5B):c.723G>A (p.Thr241=) rs2075855 0.06060
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980 0.06056
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06008
NM_001714.4(BICD1):c.1980C>T (p.Ala660=) rs34447944 0.05973
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val) rs62635003 0.05955
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_001378609.3(OTOGL):c.2391-6G>A rs9783425 0.05927
NM_001039213.4(CEACAM16):c.941-14C>T rs10426475 0.05915
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234 0.05873
NM_020859.4(SHROOM3):c.973T>G (p.Ser325Ala) rs61999292 0.05868
NM_003672.4(CDC14A):c.903T>C (p.His301=) rs17122597 0.05859
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_001735.3(C5):c.4806A>G (p.Lys1602=) rs41258306 0.05843
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=) rs2304151 0.05835
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404 0.05809
NM_001911.3(CTSG):c.374A>G (p.Asn125Ser) rs45567233 0.05808
NM_024598.4(USB1):c.42C>A (p.Ser14=) rs3743559 0.05803
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=) rs3731744 0.05786
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_001735.3(C5):c.4221-13T>C rs41312901 0.05759
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981 0.05741
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932 0.05734
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001035.3(RYR2):c.4684-11C>T rs7546045 0.05719
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_002458.3(MUC5B):c.15861A>G (p.Pro5287=) rs56344012 0.05669
NM_024598.4(USB1):c.748C>G (p.Gln250Glu) rs16959641 0.05657
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016 0.05655
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys) rs4748728 0.05648
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001378213.1(BCL9L):c.4020G>A (p.Gln1340=) rs61751532 0.05636
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001481.3(GAS8):c.776G>A (p.Arg259Gln) rs17178299 0.05624
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=) rs3829749 0.05620
NM_000395.3(CSF2RB):c.1954G>A (p.Val652Met) rs1801114 0.05618
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) rs12993099 0.05590
NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe) rs41277907 0.05575
NM_003573.2(LTBP4):c.2144-11C>A rs41470347 0.05552
NM_021930.6(RINT1):c.414G>A (p.Ala138=) rs7805216 0.05545
NM_005228.5(EGFR):c.1839C>T (p.Ala613=) rs17290169 0.05521
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370 0.05503
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_002458.3(MUC5B):c.14057C>T (p.Thr4686Met) rs4963058 0.05482
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001292063.2(OTOG):c.3234C>A (p.Thr1078=) rs875696 0.05453
NM_001725.3(BPI):c.575C>T (p.Ala192Val) rs5743509 0.05452
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843 0.05402
NM_003803.4(MYOM1):c.4222G>A (p.Asp1408Asn) rs3765623 0.05400
NM_006012.4(CLPP):c.-5G>A rs75589928 0.05394
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=) rs76108116 0.05370
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly) rs17144835 0.05345
NM_004447.6(EPS8):c.516+6A>G rs73315036 0.05338
NM_022124.6(CDH23):c.3580-12C>T rs73275848 0.05331
NM_004006.3(DMD):c.4234-13A>G rs41303181 0.05327
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_080424.4(SP110):c.1737G>A (p.Met579Ile) rs3948463 0.05302
NM_080424.4(SP110):c.1650T>C (p.Gly550=) rs35495464 0.05293
NM_017950.4(CCDC40):c.507G>A (p.Ser169=) rs2885349 0.05290
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_153676.4(USH1C):c.2226+12C>T rs17703528 0.05274
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853 0.05268
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=) rs12666072 0.05248
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_001256317.3(TMPRSS3):c.-34G>A rs73372256 0.05210
NM_022124.6(CDH23):c.67+12C>T rs74144963 0.05182
NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=) rs58568563 0.05118
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=) rs55863869 0.05117
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.05091
NM_003803.4(MYOM1):c.4358T>C (p.Met1453Thr) rs16944397 0.05084
NM_002458.3(MUC5B):c.11597C>T (p.Pro3866Leu) rs187569173 0.05072
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=) rs2742344 0.05063
NM_147686.4(TRAF3IP2):c.220C>T (p.Arg74Trp) rs13190932 0.05042
NM_004086.3(COCH):c.1477+9C>A rs17097458 0.05034
NM_001290043.2(TAP2):c.739+12A>T rs28724898 0.05022
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_004463.3(FGD1):c.-4G>C rs147035080 0.04998
NM_176787.5(PIGN):c.484A>G (p.Lys162Glu) rs17069506 0.04997
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_001292063.2(OTOG):c.1940C>T (p.Thr647Met) rs7112749 0.04971
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_002458.3(MUC5B):c.16660G>A (p.Asp5554Asn) rs55856616 0.04933
NM_002458.3(MUC5B):c.15477+11G>A rs56088961 0.04932
NM_002458.3(MUC5B):c.15477+12C>A rs56352092 0.04932
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215 0.04932
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_003019.5(SFTPD):c.135T>C (p.Ser45=) rs6413520 0.04930
NM_153676.4(USH1C):c.2134-12T>C rs76769358 0.04923
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_144991.3(TSPEAR):c.1224C>G (p.His408Gln) rs35028190 0.04880
NM_001267550.2(TTN):c.13218C>T (p.Ala4406=) rs1883084 0.04879
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
NM_000569.8(FCGR3A):c.197T>A (p.Leu66His) rs10127939 0.04855
NM_023036.6(DNAI2):c.1053G>A (p.Thr351=) rs34392071 0.04853
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_006383.4(CIB2):c.393G>A (p.Thr131=) rs34057735 0.04831
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_001267550.2(TTN):c.13594A>C (p.Thr4532Pro) rs2562829 0.04828
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_133379.5(TTN):c.15416G>T (p.Arg5139Met) rs66677602 0.04824
NM_001267550.2(TTN):c.13800A>C (p.Leu4600Phe) rs1883085 0.04810
NM_001267550.2(TTN):c.12255T>C (p.Ile4085=) rs2742357 0.04800
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308 0.04799
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_145038.5(DRC1):c.*9G>A rs1054737 0.04766
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln) rs33954001 0.04760
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_000603.5(NOS3):c.3351T>C (p.Val1117=) rs3918211 0.04758
NM_002497.4(NEK2):c.15T>G (p.Ala5=) rs55635245 0.04754
NM_144672.4(OTOA):c.44T>A (p.Phe15Tyr) rs78970023 0.04754
NM_030662.4(MAP2K2):c.450+15G>T rs10424545 0.04749
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His) rs74316327 0.04745
NM_012079.6(DGAT1):c.579C>T (p.Gly193=) rs56180335 0.04745
NM_000395.3(CSF2RB):c.702C>T (p.Cys234=) rs16846 0.04733
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_001004310.3(FCRL6):c.877T>C (p.Ser293Pro) rs115855950 0.04696
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_001080467.3(MYO5B):c.921G>T (p.Lys307Asn) rs17659179 0.04692
NM_002661.5(PLCG2):c.802C>T (p.Arg268Trp) rs1143687 0.04677
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_002473.6(MYH9):c.2256T>C (p.Asn752=) rs9619601 0.04672
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04659
NM_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04640
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_000395.3(CSF2RB):c.2086C>T (p.Pro696Ser) rs16997517 0.04626
NM_005419.4(STAT2):c.1782G>C (p.Met594Ile) rs2066807 0.04622
NM_133379.5(TTN):c.15447C>T (p.Tyr5149=) rs72648911 0.04622
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=) rs61734950 0.04617
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_016584.3(IL23A):c.318G>A (p.Ser106=) rs11171806 0.04599
NM_031427.4(DNAL1):c.532+11C>T rs72721725 0.04594
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_003721.4(RFXANK):c.213C>T (p.Thr71=) rs72997200 0.04571
NM_004817.4(TJP2):c.2004G>A (p.Met668Ile) rs34774441 0.04571
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=) rs17683448 0.04560
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=) rs33954397 0.04560
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) rs17683430 0.04557
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) rs17683011 0.04555
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=) rs17683704 0.04554
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr) rs34545902 0.04499
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) rs4545 0.04485
NM_000540.3(RYR1):c.10687-10C>T rs77592501 0.04475
NM_001735.3(C5):c.4311A>C (p.Glu1437Asp) rs17612 0.04470
NM_002207.3(ITGA9):c.609C>T (p.Thr203=) rs2507941 0.04452
NM_000195.5(HPS1):c.987+13T>C rs12571249 0.04438
NM_003921.5(BCL10):c.638G>A (p.Gly213Glu) rs3768235 0.04435
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_080680.3(COL11A2):c.3946C>A (p.Pro1316Thr) rs2229784 0.04406
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654 0.04404
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046 0.04400
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304 0.04389
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=) rs2742332 0.04384
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_005343.4(HRAS):c.111+15G>A rs41258054 0.04363
NM_001292063.2(OTOG):c.3299C>T (p.Ala1100Val) rs7936324 0.04354
NM_022114.4(PRDM16):c.2502C>T (p.Gly834=) rs115226069 0.04338
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454 0.04338
NM_001114086.2(CLIC5):c.340A>G (p.Thr114Ala) rs723580 0.04335
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04328
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala) rs61744404 0.04318
NM_016379.4(VCX3A):c.418G>A (p.Val140Met) rs72609545 0.04317
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200 0.04316
NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys) rs74143030 0.04308
NM_002474.3(MYH11):c.135C>T (p.Phe45=) rs28570191 0.04299
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) rs1137845 0.04283
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) rs35775257 0.04275
NM_001292063.2(OTOG):c.3350C>T (p.Pro1117Leu) rs7936354 0.04257
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04245
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_004999.4(MYO6):c.1722C>T (p.Asp574=) rs11756446 0.04242
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_145038.5(DRC1):c.2200G>A (p.Val734Met) rs35313480 0.04241
NM_032578.4(MYPN):c.2163C>A (p.Ala721=) rs71584491 0.04239
NM_004817.4(TJP2):c.61-7316G>A rs4493966 0.04221
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=) rs33943816 0.04197
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) rs11549223 0.04188
NM_153700.2(STRC):c.4562G>A (p.Arg1521Gln) rs74643365 0.04188
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_001042475.3(CEP85L):c.1020+17269T>G rs77186188 0.04176
NM_000432.4(MYL2):c.4-14C>T rs12301951 0.04173
NM_001128840.3(CACNA1D):c.3954C>T (p.Phe1318=) rs17053501 0.04168
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_001481.3(GAS8):c.1050C>T (p.Thr350=) rs61734731 0.04165
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194 0.04165
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr) rs72655988 0.04164
NM_001164458.2(ACTR3C):c.361C>T (p.Gln121Ter) rs78661149 0.04153
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val) rs57838737 0.04150
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn) rs34631763 0.04129
NM_001349206.2(LPIN1):c.2358G>C (p.Gly786=) rs61732581 0.04121
NM_003002.4(SDHD):c.*260T>A rs149570245 0.04112
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_001098668.4(SFTPA2):c.148G>C (p.Val50Leu) rs192907309 0.04097
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile) rs72655982 0.04096
NM_052964.4(CLNK):c.92C>T (p.Pro31Leu) rs61759824 0.04093
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=) rs16830192 0.04050
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_001004695.2(OR2T33):c.479T>C (p.Val160Ala) rs200877558 0.04022
NM_001039141.3(TRIOBP):c.5487+9A>G rs56016429 0.04022
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001199799.2(ILDR1):c.1238T>C (p.Ile413Thr) rs16832645 0.04001
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_002471.4(MYH6):c.1335C>T (p.Asn445=) rs61731179 0.03984
NM_001199799.2(ILDR1):c.1325G>A (p.Arg442His) rs34883204 0.03980
NM_001199799.2(ILDR1):c.1498C>T (p.His500Tyr) rs34284625 0.03976
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_194248.3(OTOF):c.2829C>T (p.Gly943=) rs73920285 0.03958
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978 0.03956
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_003019.5(SFTPD):c.925G>A (p.Glu309Lys) rs4469829 0.03954
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980 0.03941
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
NM_001127453.2(GSDME):c.863-6T>C rs55735863 0.03926
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_016239.4(MYO15A):c.7468G>A (p.Ala2490Thr) rs16960959 0.03924
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_002471.4(MYH6):c.4838T>C (p.Val1613Ala) rs61742476 0.03922
NM_002458.3(MUC5B):c.15721G>A (p.Ala5241Thr) rs3829224 0.03919
NM_001270974.2(HYDIN):c.44T>C (p.Met15Thr) rs75270082 0.03910
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002471.4(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136 0.03900
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437 0.03898
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=) rs41274330 0.03876
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_133379.5(TTN):c.15252T>C (p.Tyr5084=) rs61233923 0.03860
NM_001080467.3(MYO5B):c.3396+9T>C rs75971548 0.03854
NM_133379.5(TTN):c.13980C>G (p.His4660Gln) rs75785339 0.03844
NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=) rs55964611 0.03837
NM_001292063.2(OTOG):c.7894+8C>T rs11024353 0.03832
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760 0.03814
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03806
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148 0.03803
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_017820.5(EXD3):c.1598C>T (p.Thr533Met) rs35097575 0.03777
NM_194248.3(OTOF):c.509+10A>G rs76712142 0.03772
NM_001292063.2(OTOG):c.1158G>A (p.Ala386=) rs61731248 0.03769
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_001370.2(DNAH6):c.8692G>A (p.Val2898Ile) rs1192269 0.03746
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876 0.03745
NM_001195263.2(PDZD7):c.3092G>A (p.Arg1031His) rs72838683 0.03743
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_001228.5(CASP8):c.-26-8228T>C rs3769824 0.03734
NM_174878.3(CLRN1):c.433+1105C>T rs16846663 0.03733
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466 0.03715
NM_004700.4(KCNQ4):c.841T>C (p.Leu281=) rs55737429 0.03713
NM_001089.3(ABCA3):c.450G>A (p.Val150=) rs74002800 0.03711
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 0.03705
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800 0.03703
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_001349206.2(LPIN1):c.1936C>T (p.Pro646Ser) rs4669781 0.03693
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=) rs112191420 0.03681
NM_182916.3(TRNT1):c.444G>T (p.Ala148=) rs41399044 0.03661
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675 0.03660
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680 0.03656
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=) rs3729855 0.03634
NM_001378609.3(OTOGL):c.5060A>G (p.Asn1687Ser) rs61735664 0.03634
NM_016616.5(NME8):c.1013T>C (p.Ile338Thr) rs62001870 0.03629
NM_144668.6(CFAP251):c.1250G>A (p.Arg417Gln) rs78910014 0.03621
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368 0.03610
NM_001292063.2(OTOG):c.7062T>C (p.Ser2354=) rs7114549 0.03608
NM_001292063.2(OTOG):c.7400G>A (p.Arg2467His) rs61743165 0.03602
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
NM_002471.4(MYH6):c.999C>T (p.Thr333=) rs78107039 0.03596
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_001039213.4(CEACAM16):c.1268-13A>G rs143934888 0.03594
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_001378213.1(BCL9L):c.2292C>T (p.Pro764=) rs61730467 0.03592
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_001018116.2(CAVIN4):c.570A>T (p.Ser190=) rs28623148 0.03588
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_020859.4(SHROOM3):c.4289G>A (p.Arg1430Gln) rs61741104 0.03555
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_001709.5(BDNF):c.-22+774G>A rs66866077 0.03550
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645 0.03545
NM_032578.4(MYPN):c.843A>G (p.Pro281=) rs74143022 0.03534
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=) rs3820216 0.03524
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_144668.6(CFAP251):c.919G>A (p.Val307Ile) rs77540055 0.03517
NM_000569.8(FCGR3A):c.216G>A (p.Ser72=) rs114535887 0.03512
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His) rs2003417 0.03504
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_001103146.3(GIGYF2):c.3630_3631insG (p.Gln1211fs) rs775324034 0.03496
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775 0.03494
NM_003019.5(SFTPD):c.297G>A (p.Lys99=) rs17885228 0.03478
NM_001032283.3(TMPO):c.565+1369C>G rs35969221 0.03471
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_144672.4(OTOA):c.615C>T (p.Arg205=) rs16972658 0.03464
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001347886.2(DNAH3):c.6945C>G (p.Leu2315=) rs61734980 0.03455
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_133379.5(TTN):c.14744G>A (p.Arg4915His) rs72648907 0.03447
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_001286445.3(RIPOR2):c.2895A>G (p.Leu965=) rs61733143 0.03439
NM_181741.4(ORC4):c.166C>G (p.Leu56Val) rs2307397 0.03439
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp) rs61751507 0.03433
NM_006785.4(MALT1):c.-84G>A rs56142402 0.03426
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03419
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_133379.5(TTN):c.15276G>A (p.Leu5092=) rs72648910 0.03419
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03418
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_002497.4(NEK2):c.765+14G>T rs2289725 0.03418
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_020877.5(DNAH2):c.4146A>T (p.Ile1382=) rs9910089 0.03407
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515 0.03405
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=) rs35504640 0.03388
NM_002354.3(EPCAM):c.904-12T>C rs62139669 0.03374
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_001042545.2(LTBP4):c.3327G>A (p.Val1109=) rs35079932 0.03365
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_002458.3(MUC5B):c.9578T>C (p.Leu3193Pro) rs117913875 0.03359
NM_002458.3(MUC5B):c.15817G>C (p.Ala5273Pro) rs56123928 0.03357
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068 0.03343
NM_001292063.2(OTOG):c.7535G>A (p.Arg2512His) rs114242958 0.03332
NM_012263.5(TTLL1):c.894G>A (p.Pro298=) rs9607998 0.03327
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_001286445.3(RIPOR2):c.1207G>A (p.Glu403Lys) rs34016544 0.03314
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_001286445.3(RIPOR2):c.1495C>T (p.Arg499Cys) rs35780910 0.03306
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_182916.3(TRNT1):c.133C>T (p.Leu45=) rs75033443 0.03301
NM_001039876.3(SYNE4):c.819T>C (p.Cys273=) rs2285423 0.03295
NM_053025.4(MYLK):c.3652+11G>A rs41271437 0.03294
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_002458.3(MUC5B):c.2631-9C>G rs55771636 0.03288
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058 0.03285
NM_203447.4(DOCK8):c.3208A>G (p.Asn1070Asp) rs73382631 0.03284
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001145809.2(MYH14):c.1890C>T (p.Val630=) rs77895476 0.03277
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_020999.4(NEUROG3):c.499G>A (p.Gly167Arg) rs41277236 0.03257
NM_006073.4(TRDN):c.1105+5G>A rs41284430 0.03253
NM_002458.3(MUC5B):c.16450+8G>C rs55665964 0.03251
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_020157.4(OTOR):c.2T>C (p.Met1Thr) rs17686437 0.03237
NM_203447.4(DOCK8):c.2295C>T (p.Ser765=) rs12348944 0.03237
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_178335.3(CCDC50):c.363A>T (p.Leu121Phe) rs35380043 0.03217
NM_002458.3(MUC5B):c.9010G>A (p.Ala3004Thr) rs116870693 0.03214
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=) rs55925184 0.03211
NM_030974.4(SHARPIN):c.880C>T (p.Pro294Ser) rs34674752 0.03209
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_005422.4(TECTA):c.5733T>G (p.Val1911=) rs516678 0.03205
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069 0.03191
NM_001366683.2(DOCK9):c.1301C>T (p.Ala434Val) rs62620184 0.03184
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_013296.5(GPSM2):c.753A>G (p.Ala251=) rs12069435 0.03167
NM_005548.3(KARS1):c.1079-7C>T rs16941301 0.03165
NM_014476.6(PDLIM3):c.678G>A (p.Ser226=) rs34943562 0.03158
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073 0.03149
NM_001277115.2(DNAH11):c.12508-12T>C rs72658822 0.03145
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03138
NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met) rs35089879 0.03137
NM_014611.3(MDN1):c.12796A>G (p.Arg4266Gly) rs41273327 0.03119
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03118
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_000285.4(PEPD):c.660T>C (p.Tyr220=) rs3745969 0.03110
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_001393986.1(PRDM2):c.3070T>A (p.Ser1024Thr) rs41269807 0.03109
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814 0.03107
NM_014611.3(MDN1):c.14159T>C (p.Ile4720Thr) rs16882046 0.03103
NM_002458.3(MUC5B):c.16053C>T (p.Thr5351=) rs117452757 0.03099
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser) rs61749867 0.03097
NM_032119.4(ADGRV1):c.13232-7A>G rs2438358 0.03097
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_001145004.2(GOLGA6L6):c.1847C>T (p.Thr616Met) rs28590435 0.03090
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546 0.03085
NM_032122.5(DTNBP1):c.811+59A>G rs16876573 0.03085
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953 0.03083
NM_001378609.3(OTOGL):c.6859C>T (p.Pro2287Ser) rs35010860 0.03080
NM_013296.5(GPSM2):c.278+5T>C rs9727773 0.03074
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_014717.3(ZNF536):c.3143C>T (p.Ala1048Val) rs77238711 0.03068
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209 0.03064
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=) rs72658820 0.03062
NM_018897.3(DNAH7):c.2619C>G (p.Val873=) rs115124743 0.03062
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333 0.03061
NM_001666.5(ARHGAP4):c.2608-6C>T rs139401482 0.03053
NM_000395.3(CSF2RB):c.1807C>A (p.Pro603Thr) rs1801122 0.03051
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_002016.2(FLG):c.4678C>T (p.Arg1560Cys) rs151103850 0.03042
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.03023
NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg) rs34616847 0.03016
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_001031679.3(MSRB3):c.357T>C (p.Tyr119=) rs34513088 0.03011
NM_001031679.3(MSRB3):c.293-6T>C rs75990461 0.03006
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001130182.2(DNAJA4):c.132+1348_132+1349del rs142025971 0.02999
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_080860.4(RSPH1):c.579A>G (p.Arg193=) rs149478284 0.02988
NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly) rs33937741 0.02986
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=) rs1982243 0.02985
NM_152327.5(AK7):c.1153A>G (p.Lys385Glu) rs74090310 0.02983
NM_005379.4(MYO1A):c.1185T>C (p.Phe395=) rs17546153 0.02982
NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val) rs9488992 0.02977
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984 0.02971
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913 0.02955
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_002700.3(POU4F3):c.90C>T (p.Ala30=) rs28994879 0.02948
NM_024915.4(GRHL2):c.1572A>G (p.Pro524=) rs34213258 0.02939
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001369.3(DNAH5):c.6444+8A>G rs1348690 0.02931
NM_002458.3(MUC5B):c.11913T>C (p.Pro3971=) rs367905040 0.02930
NM_017668.3(NDE1):c.947+7126G>C rs1875184 0.02929
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=) rs7034926 0.02921
NM_000091.5(COL4A3):c.766-13G>A rs77431913 0.02920
NM_018897.3(DNAH7):c.6340A>G (p.Thr2114Ala) rs75859635 0.02917
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_144997.7(FLCN):c.726A>T (p.Thr242=) rs113938514 0.02907
NM_001292063.2(OTOG):c.688G>A (p.Ala230Thr) rs61910753 0.02905
NM_002473.6(MYH9):c.4563C>T (p.His1521=) rs11549907 0.02903
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305 0.02887
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_172245.4(CSF2RA):c.561G>A (p.Thr187=) rs73618036 0.02880
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077 0.02877
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_004230.4(S1PR2):c.1050C>T (p.Asn350=) rs116191851 0.02875
NM_016239.4(MYO15A):c.7503G>A (p.Thr2501=) rs16960961 0.02872
NM_002473.6(MYH9):c.3100+11G>C rs41279999 0.02869
NM_006012.4(CLPP):c.405G>A (p.Thr135=) rs7260547 0.02865
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859 0.02854
NM_014000.3(VCL):c.945C>A (p.Gly315=) rs61731180 0.02850
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=) rs34580014 0.02846
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_001378609.3(OTOGL):c.3125A>G (p.Tyr1042Cys) rs12304169 0.02834
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_002458.3(MUC5B):c.757G>A (p.Gly253Ser) rs56179538 0.02825
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02813
NM_001145809.2(MYH14):c.474T>C (p.Ile158=) rs34796700 0.02809
NM_000501.4(ELN):c.2033-16A>G rs45618836 0.02805
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064 0.02803
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02800
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640 0.02796
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_017950.4(CCDC40):c.504G>A (p.Pro168=) rs74000351 0.02786
NM_001145809.2(MYH14):c.5281C>A (p.Arg1761=) rs116035034 0.02785
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_001145809.2(MYH14):c.2041G>C (p.Gly681Arg) rs75915336 0.02765
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951 0.02765
NM_001256545.2(MEGF10):c.116+10T>C rs10519949 0.02763
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02763
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro) rs77925409 0.02760
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02757
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631 0.02743
NM_020223.4(FAM20C):c.1218T>A (p.Pro406=) rs144007479 0.02734
NM_004145.4(MYO9B):c.4363G>A (p.Gly1455Ser) rs117099942 0.02727
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_002471.4(MYH6):c.909G>A (p.Leu303=) rs17091623 0.02711
NM_024867.4(SPEF2):c.1983T>C (p.Asn661=) rs78576797 0.02708
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001286445.3(RIPOR2):c.1292C>G (p.Ser431Cys) rs34298086 0.02703
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_003019.5(SFTPD):c.367C>G (p.Leu123Val) rs17878336 0.02701
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_002458.3(MUC5B):c.9181T>C (p.Ser3061Pro) rs189329205 0.02674
NM_002458.3(MUC5B):c.9179A>C (p.Lys3060Thr) rs184565965 0.02673
NM_002458.3(MUC5B):c.9617T>C (p.Ile3206Thr) rs202001610 0.02672
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_002458.3(MUC5B):c.15218-4G>A rs117860519 0.02661
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001128840.3(CACNA1D):c.6051G>A (p.Pro2017=) rs34388124 0.02654
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438 0.02648
NM_001277115.2(DNAH11):c.7552G>A (p.Val2518Ile) rs68023059 0.02641
NM_002458.3(MUC5B):c.9140C>A (p.Thr3047Asn) rs201236828 0.02641
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_002471.4(MYH6):c.4527G>A (p.Glu1509=) rs34855944 0.02632
NM_002458.3(MUC5B):c.14937T>C (p.Ile4979=) rs148759448 0.02629
NM_198999.3(SLC26A5):c.570+6G>A rs113889101 0.02621
NM_002458.3(MUC5B):c.5647A>G (p.Ser1883Gly) rs78692183 0.02619
NM_000618.5(IGF1):c.*263T>A rs70961704 0.02615
NM_002458.3(MUC5B):c.9593G>C (p.Ser3198Thr) rs117501397 0.02615
NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser) rs112738198 0.02615
NM_001013615.3(LURAP1):c.620A>G (p.Gln207Arg) rs62620990 0.02606
NM_002458.3(MUC5B):c.13674T>C (p.Thr4558=) rs202088302 0.02606
NM_002458.3(MUC5B):c.16422G>C (p.Glu5474Asp) rs56220864 0.02605
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_002458.3(MUC5B):c.15450C>T (p.Thr5150=) rs117336883 0.02604
NM_002458.3(MUC5B):c.15478-13T>C rs56141203 0.02604
NM_002458.3(MUC5B):c.16110C>A (p.Pro5370=) rs55845452 0.02604
NM_002458.3(MUC5B):c.15542T>C (p.Leu5181Pro) rs56232219 0.02602
NM_002458.3(MUC5B):c.16137-7C>T rs56310773 0.02602
NM_002458.3(MUC5B):c.16593+15G>C rs56025628 0.02602
NM_032122.5(DTNBP1):c.874A>G (p.Arg292Gly) rs73369534 0.02600
NM_002458.3(MUC5B):c.9603C>G (p.Thr3201=) rs201457576 0.02595
NM_170606.3(KMT2C):c.1365A>G (p.Ile455Met) rs77652527 0.02594
NM_002458.3(MUC5B):c.15972T>C (p.Leu5324=) rs56229218 0.02587
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878 0.02584
NM_012418.4(FSCN2):c.967G>A (p.Ala323Thr) rs186367879 0.02580
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_032122.5(DTNBP1):c.667+2C>T rs61739410 0.02578
NM_020297.4(ABCC9):c.2424+9T>C rs11835804 0.02576
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_022114.4(PRDM16):c.1113C>T (p.Cys371=) rs61745281 0.02560
NM_194248.3(OTOF):c.766-3C>T rs55886964 0.02560
NM_002458.3(MUC5B):c.5822C>G (p.Thr1941Ser) rs183657141 0.02559
NM_002458.3(MUC5B):c.8900A>G (p.Asn2967Ser) rs200811033 0.02553
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_012448.4(STAT5B):c.1101C>A (p.Pro367=) rs61749920 0.02543
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_003719.5(PDE8B):c.1366-5G>A rs79008179 0.02537
NM_014476.6(PDLIM3):c.331-354G>A rs28447263 0.02537
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02535
NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro) rs35797487 0.02532
NM_001369.3(DNAH5):c.8449-12T>C rs111313933 0.02531
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001127198.5(TMC6):c.2021+11C>T rs143140501 0.02510
NM_000476.3(AK1):c.367G>C (p.Glu123Gln) rs8192462 0.02507
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_000542.5(SFTPB):c.48G>A (p.Thr16=) rs3024793 0.02497
NM_194248.3(OTOF):c.5097C>T (p.Ile1699=) rs12386239 0.02496
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941 0.02481
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_020877.5(DNAH2):c.12974C>G (p.Pro4325Arg) rs116930996 0.02472
NM_170682.4(P2RX2):c.9C>T (p.Ala3=) rs186684886 0.02469
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_001286445.3(RIPOR2):c.2581G>A (p.Val861Ile) rs61741706 0.02466
NM_004817.4(TJP2):c.1350C>T (p.Ser450=) rs17062723 0.02463
NM_000260.4(MYO7A):c.5326+13C>T rs114157944 0.02453
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_006383.4(CIB2):c.303G>A (p.Ser101=) rs77370542 0.02451
NM_004006.3(DMD):c.-8T>A rs113726961 0.02450
NM_017433.5(MYO3A):c.4848C>G (p.Ser1616=) rs56316209 0.02444
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001372106.1(DNAH10):c.6311C>T (p.Thr2104Met) rs33935373 0.02441
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039 0.02440
NM_182925.5(FLT4):c.1344C>T (p.Tyr448=) rs3736062 0.02437
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
NM_001286445.3(RIPOR2):c.521C>G (p.Ala174Gly) rs11967003 0.02425
NM_014476.6(PDLIM3):c.42C>T (p.Gly14=) rs116775669 0.02423
NM_033103.5(RHPN2):c.1552C>T (p.Arg518Cys) rs79314177 0.02421
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332 0.02419
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu) rs33962952 0.02416
NM_001256317.3(TMPRSS3):c.-51-7G>C rs4920100 0.02415
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=) rs80214437 0.02415
NM_000091.5(COL4A3):c.933+14T>C rs55928538 0.02412
NM_017576.4(KIF27):c.3054A>G (p.Glu1018=) rs74436006 0.02408
NM_001369.3(DNAH5):c.58-13T>C rs115758625 0.02407
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His) rs2562832 0.02406
NM_198505.4(ATP13A5):c.1063C>T (p.Gln355Ter) rs74437357 0.02405
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=) rs2742329 0.02401
NM_001145809.2(MYH14):c.4753-9C>T rs45591233 0.02396
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=) rs41274634 0.02389
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001347886.2(DNAH3):c.6795C>T (p.Phe2265=) rs111770788 0.02387
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_018012.4(KIF26B):c.3444G>A (p.Pro1148=) rs3820246 0.02382
NM_002458.3(MUC5B):c.576+9G>T rs56394097 0.02381
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_002458.3(MUC5B):c.1287C>T (p.Gly429=) rs2672810 0.02368
NM_002458.3(MUC5B):c.16306G>A (p.Val5436Met) rs55657020 0.02368
NM_002458.3(MUC5B):c.16476G>A (p.Gln5492=) rs55784821 0.02368
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_002458.3(MUC5B):c.9501C>G (p.Pro3167=) rs202123454 0.02363
NM_002458.3(MUC5B):c.7826T>C (p.Leu2609Pro) rs2943496 0.02358
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_000395.3(CSF2RB):c.2400G>A (p.Pro800=) rs1801116 0.02350
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_020877.5(DNAH2):c.12184A>C (p.Ile4062Leu) rs79350244 0.02345
NM_020877.5(DNAH2):c.12303A>T (p.Leu4101Phe) rs117465420 0.02341
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115 0.02341
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp) rs55752937 0.02339
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_001286445.3(RIPOR2):c.1086A>G (p.Ala362=) rs35698586 0.02330
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_001122659.3(EDNRB):c.*1767C>T rs3027092 0.02325
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=) rs111995400 0.02321
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_001330.5(CTF1):c.120C>T (p.Tyr40=) rs8059269 0.02315
NM_002473.6(MYH9):c.3838-8C>T rs145429636 0.02315
NM_001277115.2(DNAH11):c.12943G>A (p.Ala4315Thr) rs72658825 0.02314
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=) rs10067298 0.02309
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His) rs35900306 0.02307
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) rs117560775 0.02306
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) rs34231037 0.02299
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234 0.02295
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) rs35482838 0.02279
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783 0.02274
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) rs139996942 0.02272
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_005422.4(TECTA):c.4422C>T (p.Asn1474=) rs33981325 0.02261
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061 0.02260
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_001943.5(DSG2):c.524-9T>A rs11876289 0.02255
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744 0.02246
NM_032229.3(SLITRK6):c.222C>T (p.Asn74=) rs35342386 0.02244
NM_006424.3(SLC34A2):c.552T>C (p.Ile184=) rs77319279 0.02243
NM_001347886.2(DNAH3):c.10328G>A (p.Arg3443Gln) rs111539520 0.02242
NM_004447.6(EPS8):c.1287T>C (p.Tyr429=) rs33956726 0.02242
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_032229.3(SLITRK6):c.327T>C (p.Asn109=) rs35119660 0.02230
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_001292063.2(OTOG):c.8262C>T (p.Phe2754=) rs61730948 0.02228
NM_005173.4(ATP2A3):c.2020C>T (p.Arg674Cys) rs9895012 0.02226
NM_022124.6(CDH23):c.1134+13A>G rs7903502 0.02225
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307 0.02220
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_003246.4(THBS1):c.1563C>T (p.Asn521=) rs41338344 0.02216
NM_001089.3(ABCA3):c.2514-8C>T rs45502600 0.02214
NM_001378213.1(BCL9L):c.1627A>G (p.Ser543Gly) rs78780803 0.02211
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001378609.3(OTOGL):c.1975G>A (p.Val659Ile) rs76258355 0.02202
NM_002458.3(MUC5B):c.14718T>C (p.Pro4906=) rs145066684 0.02192
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004211.5(SLC6A5):c.266C>A (p.Ala89Glu) rs61736602 0.02191
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_006774.5(INMT):c.791G>C (p.Ter264Ser) rs61741736 0.02186
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_001032283.3(TMPO):c.565+1665A>G rs11838270 0.02179
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp) rs1805063 0.02177
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_001286445.3(RIPOR2):c.1420G>A (p.Glu474Lys) rs35514577 0.02169
NM_001292063.2(OTOG):c.769G>A (p.Val257Ile) rs61978648 0.02169
NM_134424.4(RAD52):c.1245T>G (p.Tyr415Ter) rs4987208 0.02163
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_006397.3(RNASEH2A):c.777C>T (p.Ser259=) rs76634951 0.02157
NM_001292063.2(OTOG):c.2274C>T (p.Arg758=) rs16934404 0.02154
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=) rs61291716 0.02153
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=) rs9443199 0.02151
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_001384140.1(PCDH15):c.3718-19C>A rs75248212 0.02141
NM_020061.6(OPN1LW):c.532A>G (p.Ile178Val) rs145009674 0.02138
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.02137
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=) rs10077457 0.02135
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_000091.5(COL4A3):c.399G>A (p.Gly133=) rs75683214 0.02133
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_002458.3(MUC5B):c.2769+4C>T rs56252247 0.02131
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031 0.02131
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.02130
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_181507.2(HPS5):c.1785-13C>T rs73430857 0.02128
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728 0.02127
NM_022114.4(PRDM16):c.627C>T (p.His209=) rs12058363 0.02126
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_001384140.1(PCDH15):c.3374-4C>T rs111739360 0.02123
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001286445.3(RIPOR2):c.1072G>T (p.Ala358Ser) rs35254980 0.02121
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845 0.02120
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu) rs10067636 0.02108
NM_001128840.3(CACNA1D):c.927A>G (p.Val309=) rs33970402 0.02106
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_002029.4(FPR1):c.993C>T (p.Thr331=) rs17849971 0.02106
NM_002421.4(MMP1):c.831G>A (p.Ala277=) rs1051121 0.02106
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114 0.02099
NM_001378609.3(OTOGL):c.5266-7T>C rs79120261 0.02098
NM_018012.4(KIF26B):c.5004G>T (p.Ser1668=) rs58427858 0.02098
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_005144.5(HR):c.1859G>A (p.Arg620Gln) rs117197822 0.02084
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114 0.02082
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621 0.02081
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347 0.02079
NM_001330691.3(CEP78):c.2007T>C (p.Cys669=) rs57666183 0.02078
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_002458.3(MUC5B):c.13751C>T (p.Thr4584Ile) rs201778566 0.02062
NM_005379.4(MYO1A):c.3026A>C (p.Glu1009Ala) rs76394585 0.02062
NM_000258.3(MYL3):c.69C>T (p.Pro23=) rs2233264 0.02058
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001199799.2(ILDR1):c.1298G>A (p.Arg433Gln) rs35906279 0.02049
NM_001098668.4(SFTPA2):c.282A>G (p.Arg94=) rs17886221 0.02047
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys) rs62636730 0.02044
NM_024915.4(GRHL2):c.26A>G (p.Lys9Arg) rs3735709 0.02044
NM_012106.4(ARL2BP):c.259G>A (p.Glu87Lys) rs7198865 0.02043
NM_002872.5(RAC2):c.252C>T (p.Leu84=) rs2230919 0.02042
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_006012.4(CLPP):c.368-10C>T rs8100489 0.02035
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) rs4987076 0.02032
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_001372.4(DNAH9):c.1810A>G (p.Met604Val) rs61740059 0.02016
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_001384140.1(PCDH15):c.5124G>A (p.Lys1708=) rs74609306 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
NM_002458.3(MUC5B):c.8886T>C (p.Arg2962=) rs368128605 0.02002
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_005411.5(SFTPA1):c.552T>C (p.Tyr184=) rs4253526 0.01999
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=) rs79640036 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001370.2(DNAH6):c.6356A>G (p.Tyr2119Cys) rs17025409 0.01997
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_033004.4(NLRP1):c.3551T>C (p.Met1184Thr) rs146932154 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_002458.3(MUC5B):c.9143C>T (p.Ala3048Val) rs188370271 0.01993
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_017637.6(BNC2):c.2768C>T (p.Ala923Val) rs117452684 0.01981
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_001089.3(ABCA3):c.447+11C>T rs117031141 0.01978
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=) rs9293547 0.01974
NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=) rs61745291 0.01969
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_000211.5(ITGB2):c.31C>T (p.Leu11=) rs5030667 0.01960
NM_002700.3(POU4F3):c.837G>T (p.Thr279=) rs6885298 0.01958
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_002458.3(MUC5B):c.7829C>G (p.Thr2610Ser) rs117736426 0.01953
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_173628.4(DNAH17):c.12854G>A (p.Arg4285Gln) rs35973257 0.01936
NM_001098671.2(RASGRP2):c.1592-3C>A rs75902820 0.01934
NM_004817.4(TJP2):c.342+12G>T rs7027812 0.01934
NM_001105206.3(LAMA4):c.423-4T>G rs79008328 0.01927
NM_153700.2(STRC):c.3360T>C (p.Cys1120=) rs56385906 0.01920
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_201384.3(PLEC):c.342+13G>A rs115664009 0.01917
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599 0.01906
NM_000260.4(MYO7A):c.736-15_736-4dup rs111033503 0.01906
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) rs114328138 0.01906
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_001032283.3(TMPO):c.991-4T>C rs112475937 0.01905
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_016239.4(MYO15A):c.3413A>G (p.Gln1138Arg) rs76468019 0.01903
NM_032229.3(SLITRK6):c.73C>T (p.Leu25Phe) rs12863734 0.01903
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_001032283.3(TMPO):c.565+1296T>G rs35645287 0.01895
NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu) rs61733579 0.01895
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu) rs11669191 0.01884
NM_000260.4(MYO7A):c.6052-11G>C rs112564978 0.01883
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_001363538.2(TCAF2):c.2190C>T (p.Pro730=) rs142539094 0.01872
NM_001701.4(BAAT):c.911T>C (p.Val304Ala) rs61755096 0.01872
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_004999.4(MYO6):c.2658+20A>C rs2295937 0.01861
NM_016929.5(CLIC5):c.588+1480T>C rs75878754 0.01849
NM_001330691.3(CEP78):c.604-6T>G rs17064247 0.01848
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_007078.3(LDB3):c.1903G>A (p.Val635Ile) rs45618633 0.01846
NM_178452.6(DNAAF1):c.228C>T (p.His76=) rs61743547 0.01842
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_003573.2(LTBP4):c.4456+8C>T rs80192963 0.01836
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_015404.4(WHRN):c.1091A>G (p.His364Arg) rs10817610 0.01827
NM_153700.2(STRC):c.4035G>C (p.Leu1345=) rs143345370 0.01824
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=) rs61749027 0.01818
NM_033118.4(MYLK2):c.1104C>T (p.Phe368=) rs6089088 0.01807
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_001379180.1(ESRRB):c.204G>C (p.Leu68=) rs61744548 0.01800
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_001102416.3(KNG1):c.*1404C>T rs76438938 0.01796
NM_004758.4(TSPOAP1):c.3901G>A (p.Asp1301Asn) rs61741210 0.01796
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01794
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166 0.01778
NM_004758.4(TSPOAP1):c.236G>A (p.Gly79Glu) rs61743284 0.01775
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052 0.01769
NM_002458.3(MUC5B):c.9048G>A (p.Pro3016=) rs139052978 0.01769
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559 0.01765
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_152732.5(RSPH9):c.671-4259C>T rs41281830 0.01763
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_013372.7(GREM1):c.207C>G (p.Pro69=) rs2280738 0.01757
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_003803.4(MYOM1):c.1799A>T (p.Glu600Val) rs9807556 0.01756
NM_016929.5(CLIC5):c.293C>A (p.Pro98His) rs35822882 0.01752
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069 0.01749
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001032283.3(TMPO):c.565+1132T>G rs35998138 0.01742
NM_024867.4(SPEF2):c.2840-13G>A rs115898419 0.01738
NM_001032283.3(TMPO):c.565+1853G>C rs35761089 0.01735
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_001145809.2(MYH14):c.3468-3C>T rs78192108 0.01724
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile) rs72648903 0.01724
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) rs11568542 0.01720
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01717
NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn) rs61997203 0.01716
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705 0.01715
NM_001692.4(ATP6V1B1):c.*6C>A rs45498896 0.01715
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001354604.2(MITF):c.330G>A (p.Thr110=) rs9849776 0.01713
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984 0.01713
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_006016.6(CD164):c.402A>G (p.Thr134=) rs9480941 0.01704
NM_173630.4(RTTN):c.2055+7C>T rs117843366 0.01697
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_153676.4(USH1C):c.1872G>A (p.Ser624=) rs80124409 0.01688
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=) rs28730770 0.01687
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375 0.01683
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_022124.6(CDH23):c.4359+11G>A rs12242607 0.01676
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851 0.01669
NM_032119.4(ADGRV1):c.2735-10C>A rs78625945 0.01665
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) rs17058153 0.01664
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_194248.3(OTOF):c.129C>T (p.Asp43=) rs116525289 0.01663
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_001292063.2(OTOG):c.7330G>A (p.Gly2444Ser) rs61745322 0.01656
NM_018897.3(DNAH7):c.6161A>G (p.Tyr2054Cys) rs62623377 0.01654
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_002191.4(INHA):c.769G>A (p.Ala257Thr) rs12720062 0.01646
NM_001145809.2(MYH14):c.1024C>G (p.Pro342Ala) rs34498817 0.01645
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) rs45480502 0.01639
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270 0.01635
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760 0.01629
NM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=) rs56157640 0.01628
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) rs115393178 0.01622
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=) rs74692882 0.01622
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_144585.4(SLC22A12):c.246C>T (p.Asn82=) rs3825017 0.01615
NM_001388492.1(HTT):c.54GCA[18] (p.Gln38del) rs754481229 0.01614
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile) rs61739354 0.01613
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=) rs34835657 0.01612
NM_001199799.2(ILDR1):c.1162T>C (p.Trp388Arg) rs35661993 0.01612
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_002458.3(MUC5B):c.1541-5G>A rs138440673 0.01608
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_022124.6(CDH23):c.4210-7C>T rs79271090 0.01600
NM_032495.6(HOPX):c.87G>A (p.Glu29=) rs11555052 0.01597
NM_001105206.3(LAMA4):c.423-10C>T rs75058449 0.01596
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_212550.5(BLOC1S3):c.366C>T (p.His122=) rs571269735 0.01592
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_002424.3(MMP8):c.1348C>T (p.Gln450Ter) rs35231465 0.01589
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001451.3(FOXF1):c.873C>T (p.Ser291=) rs61753347 0.01583
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001369.3(DNAH5):c.6989-13T>C rs112344370 0.01579
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639 0.01576
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01570
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln) rs77890266 0.01561
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser) rs115931035 0.01559
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) rs111033472 0.01557
NM_001378213.1(BCL9L):c.1272C>T (p.Ser424=) rs75656086 0.01556
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) rs7771303 0.01556
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_021116.4(ADCY1):c.1554C>T (p.Phe518=) rs61729596 0.01544
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) rs34112109 0.01536
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496 0.01533
NM_005411.5(SFTPA1):c.606C>T (p.Asp202=) rs1059058 0.01532
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_001080476.3(GRXCR1):c.777C>T (p.Ser259=) rs61733348 0.01525
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083 0.01524
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=) rs116824266 0.01523
NM_172245.4(CSF2RA):c.1125+128G>A rs147124116 0.01523
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_001320878.2(SULT1C3):c.108G>A (p.Trp36Ter) rs112050262 0.01516
NM_005419.4(STAT2):c.2472T>C (p.Ala824=) rs61754171 0.01516
NM_005419.4(STAT2):c.2473G>T (p.Gly825Cys) rs61754170 0.01516
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275 0.01514
NM_004006.3(DMD):c.3705C>T (p.Ala1235=) rs143628111 0.01510
NM_021948.5(BCAN):c.313C>G (p.Arg105Gly) rs115373136 0.01510
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141 0.01509
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_000246.4(CIITA):c.2072C>A (p.Ala691Asp) rs78108426 0.01496
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_001267550.2(TTN):c.2781A>C (p.Thr927=) rs55892860 0.01493
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_022114.4(PRDM16):c.2793C>T (p.Asn931=) rs59135929 0.01493
NM_001195263.2(PDZD7):c.2157C>T (p.Asp719=) rs77081173 0.01489
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 0.01485
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001195263.2(PDZD7):c.936C>T (p.Asn312=) rs35038258 0.01480
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_001292063.2(OTOG):c.2772C>T (p.His924=) rs61910692 0.01477
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01462
NM_001105206.3(LAMA4):c.531C>T (p.Pro177=) rs61742228 0.01462
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784 0.01458
NM_001318895.3(FHL2):c.530G>A (p.Arg177Gln) rs113188481 0.01458
NM_001292063.2(OTOG):c.292+10A>T rs141597314 0.01457
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_000369.5(TSHR):c.692+49T>C rs28636074 0.01441
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_144672.4(OTOA):c.2382G>A (p.Gln794=) rs143890524 0.01441
NM_006658.5(PPP1R17):c.29T>G (p.Leu10Arg) rs36047130 0.01440
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_000395.3(CSF2RB):c.2430C>A (p.Pro810=) rs2228092 0.01431
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488 0.01431
NM_015340.4(LARS2):c.2181G>T (p.Lys727Asn) rs36054230 0.01430
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_003803.4(MYOM1):c.2673G>C (p.Leu891=) rs115240600 0.01425
NM_152381.6(XIRP2):c.472G>A (p.Glu158Lys) rs114147582 0.01425
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=) rs143758478 0.01424
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130 0.01418
NM_000260.4(MYO7A):c.286-5C>T rs111033471 0.01415
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490 0.01415
NM_002471.4(MYH6):c.2151C>T (p.Tyr717=) rs76202964 0.01414
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_012193.4(FZD4):c.502C>T (p.Pro168Ser) rs61735303 0.01408
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_002294.3(LAMP2):c.*2746A>G rs3827478 0.01396
NM_004230.4(S1PR2):c.642C>T (p.Cys214=) rs79482117 0.01396
NM_001007237.3(IGSF3):c.2698G>A (p.Val900Met) rs41301291 0.01392
NM_018417.6(ADCY10):c.3542A>G (p.Asn1181Ser) rs116510137 0.01392
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01376
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_001017365.3(C4BPB):c.410-12C>T rs56054349 0.01370
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01370
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_006329.4(FBLN5):c.989+13G>A rs74071605 0.01368
NM_033118.4(MYLK2):c.266G>A (p.Gly89Asp) rs115398036 0.01365
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_001372106.1(DNAH10):c.13392C>T (p.Asn4464=) rs56219209 0.01349
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) rs12340440 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu) rs151058706 0.01345
NM_178335.3(CCDC50):c.1396C>T (p.Arg466Trp) rs147604673 0.01345
NM_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_024915.4(GRHL2):c.651C>T (p.Ser217=) rs34332949 0.01341
NM_001277115.2(DNAH11):c.6683+13C>G rs17145077 0.01337
NM_170682.4(P2RX2):c.554+14C>A rs151253585 0.01337
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_006329.4(FBLN5):c.863-13C>T rs74071606 0.01336
NM_133379.5(TTN):c.13608C>T (p.Ser4536=) rs72648905 0.01336
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001035.3(RYR2):c.4684-5G>C rs7522981 0.01334
NM_001277115.2(DNAH11):c.9337-9T>C rs72657378 0.01332
NM_017433.5(MYO3A):c.4335A>G (p.Lys1445=) rs34615182 0.01332
NM_001194.4(HCN2):c.1584+7C>T rs55978915 0.01331
NM_012268.4(PLD3):c.1326G>A (p.Ala442=) rs4819 0.01329
NM_004817.4(TJP2):c.2646G>A (p.Ala882=) rs11788754 0.01323
NM_004817.4(TJP2):c.2778C>T (p.Asp926=) rs140442228 0.01321
NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser) rs34077456 0.01319
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) rs41277901 0.01317
NM_000395.3(CSF2RB):c.934G>A (p.Asp312Asn) rs117805308 0.01316
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_012079.6(DGAT1):c.455A>G (p.Lys152Arg) rs55907012 0.01307
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693 0.01292
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) rs116612406 0.01288
NM_032122.5(DTNBP1):c.811+78C>T rs16876571 0.01287
NM_002458.3(MUC5B):c.3834C>T (p.Thr1278=) rs55913363 0.01285
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_001032283.3(TMPO):c.565+2051T>A rs12316677 0.01280
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_031900.4(AGXT2):c.1188+1G>A rs114286107 0.01270
NM_144672.4(OTOA):c.2238G>A (p.Thr746=) rs72640475 0.01270
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_144573.4(NEXN):c.363G>A (p.Thr121=) rs35117963 0.01268
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836 0.01265
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=) rs114684841 0.01262
NM_170682.4(P2RX2):c.1302G>A (p.Pro434=) rs114276183 0.01262
NM_001286445.3(RIPOR2):c.2507-6G>A rs144190405 0.01260
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859 0.01259
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_001145809.2(MYH14):c.4596C>T (p.Ala1532=) rs35453633 0.01258
NM_144498.4(OSBPL2):c.661C>T (p.Leu221=) rs34295100 0.01258
NM_144498.4(OSBPL2):c.216C>T (p.Ser72=) rs35907950 0.01256
NM_001277115.2(DNAH11):c.9102+8G>A rs72657374 0.01255
NM_001032283.3(TMPO):c.565+1890T>G rs80325832 0.01253
NM_001145809.2(MYH14):c.6012A>T (p.Leu2004=) rs73932457 0.01253
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr) rs35047281 0.01253
NM_001032283.3(TMPO):c.565+1344G>C rs114939776 0.01252
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) rs147436181 0.01250
NM_004085.4(TIMM8A):c.132+158A>G rs41309506 0.01247
NM_001904.4(CTNNB1):c.2340C>T (p.Asp780=) rs2293303 0.01246
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=) rs41304884 0.01242
NM_003672.4(CDC14A):c.1647C>T (p.Ser549=) rs35385659 0.01241
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067 0.01238
NM_194248.3(OTOF):c.4629-9C>T rs72853726 0.01237
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_001292063.2(OTOG):c.2739G>A (p.Ser913=) rs55881341 0.01235
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala) rs35019869 0.01231
NM_003803.4(MYOM1):c.91C>A (p.Arg31=) rs76382984 0.01227
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_013296.5(GPSM2):c.87G>A (p.Leu29=) rs112935966 0.01226
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_001292063.2(OTOG):c.94+37G>A rs111425080 0.01215
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731 0.01214
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) rs35766971 0.01214
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_004817.4(TJP2):c.2367A>G (p.Ala789=) rs75668442 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp) rs9827689 0.01205
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043 0.01201
NM_033118.4(MYLK2):c.1068C>T (p.Val356=) rs17340492 0.01201
NM_004999.4(MYO6):c.1176A>G (p.Thr392=) rs2273857 0.01200
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_001318895.3(FHL2):c.120C>T (p.Cys40=) rs11537578 0.01197
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414 0.01192
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu) rs41302237 0.01191
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_015340.4(LARS2):c.2124T>C (p.Ser708=) rs34459812 0.01189
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val) rs17144788 0.01186
NM_001039213.4(CEACAM16):c.1278A>G (p.Ter426=) rs146757817 0.01185
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val) rs55853696 0.01185
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_020297.4(ABCC9):c.789C>T (p.Cys263=) rs58386780 0.01183
NM_033118.4(MYLK2):c.918C>T (p.Ala306=) rs41293106 0.01179
NM_016239.4(MYO15A):c.8262G>A (p.Thr2754=) rs1006770 0.01178
NM_004447.6(EPS8):c.2073A>G (p.Gln691=) rs61729666 0.01177
NM_178425.4(HDAC9):c.1170A>T (p.Pro390=) rs35614472 0.01177
NM_203447.4(DOCK8):c.528+13A>G rs116483820 0.01176
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_144651.5(PXDNL):c.2946C>T (p.Ala982=) rs141024159 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_024422.6(DSC2):c.-298C>T rs149977713 0.01170
NM_001170.3(AQP7):c.406+2T>C rs771895202 0.01167
NM_001267550.2(TTN):c.100766-9C>T rs77483833 0.01165
NM_021116.4(ADCY1):c.1450-5G>T rs77524127 0.01165
NM_001384140.1(PCDH15):c.4671+1114A>C rs16937769 0.01163
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_005379.4(MYO1A):c.2919C>T (p.Ser973=) rs79857347 0.01159
NM_000503.6(EYA1):c.1699-3C>T rs117149407 0.01158
NM_000601.6(HGF):c.711T>C (p.His237=) rs5745666 0.01158
NM_144498.4(OSBPL2):c.76G>A (p.Ala26Thr) rs79783838 0.01158
NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln) rs35865357 0.01156
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_153700.2(STRC):c.333G>T (p.Gly111=) rs727503453 0.01154
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_001378213.1(BCL9L):c.2705T>C (p.Val902Ala) rs34123504 0.01152
NM_032578.4(MYPN):c.3279C>T (p.Asp1093=) rs115033934 0.01152
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001378213.1(BCL9L):c.1936A>G (p.Met646Val) rs34752197 0.01150
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile) rs117169123 0.01149
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_153700.2(STRC):c.4127+8C>T rs2470137 0.01144
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_000899.5(KITLG):c.213C>T (p.Ser71=) rs17015782 0.01140
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_001105206.3(LAMA4):c.4287+15C>T rs116361180 0.01137
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_001378609.3(OTOGL):c.1126A>G (p.Ile376Val) rs76297160 0.01135
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_002880.3(RAF1):c.-415-1C>G rs61730434 0.01127
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_001164508.2(NEB):c.3147+5G>A rs74859201 0.01118
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397 0.01111
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_000328.3(RPGR):c.2242-8T>C rs112368541 0.01109
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_144991.3(TSPEAR):c.1644C>T (p.Tyr548=) rs115847549 0.01106
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) rs2296610 0.01104
NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=) rs41354044 0.01103
NM_001614.5(ACTG1):c.124-14G>A rs115307446 0.01103
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578 0.01102
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile) rs146351534 0.01096
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_001145809.2(MYH14):c.4741G>A (p.Val1581Ile) rs680446 0.01091
NM_203447.4(DOCK8):c.5001C>T (p.His1667=) rs35662752 0.01091
NM_002880.4(RAF1):c.-281C>G rs61761285 0.01090
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361 0.01074
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_005422.4(TECTA):c.5383+3G>A rs73583199 0.01071
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala) rs35261863 0.01065
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424 0.01064
NM_001089.3(ABCA3):c.-9A>G rs78286222 0.01064
NM_001376256.1(CRYM):c.741C>T (p.Tyr247=) rs34045013 0.01064
NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys) rs116185352 0.01062
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_000077.5(CDKN2A):c.150+214del rs200129494 0.01057
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_004447.6(EPS8):c.213T>C (p.Thr71=) rs2230644 0.01052
NM_212550.5(BLOC1S3):c.144C>A (p.Arg48=) rs182286598 0.01052
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001145809.2(MYH14):c.2841C>T (p.Arg947=) rs138987081 0.01050
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_001256317.3(TMPRSS3):c.952+17A>G rs115489719 0.01047
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=) rs114552047 0.01041
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_014739.3(BCLAF1):c.628G>A (p.Gly210Ser) rs141173428 0.01036
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_170682.4(P2RX2):c.186C>T (p.Ile62=) rs75585377 0.01034
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614 0.01033
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_177438.3(DICER1):c.-45-4405C>T rs140969547 0.01032
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000899.5(KITLG):c.628G>T (p.Asp210Tyr) rs41283112 0.01027
NM_003803.4(MYOM1):c.2210-4T>G rs143030509 0.01023
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_005411.5(SFTPA1):c.271C>G (p.Pro91Ala) rs1136452 0.01022
NM_001145809.2(MYH14):c.5466G>A (p.Leu1822=) rs10419343 0.01020
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001098668.4(SFTPA2):c.292+11C>T rs182465294 0.01018
NM_001330691.3(CEP78):c.1788A>G (p.Gln596=) rs61730341 0.01018
NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala) rs79386936 0.01017
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384 0.01015
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val) rs35636875 0.01015
NM_021167.5(GATAD1):c.697C>T (p.Arg233Trp) rs34768413 0.01014
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=) rs116757787 0.01011
NM_002473.6(MYH9):c.1626C>T (p.Phe542=) rs7285745 0.01011
NM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly) rs149059494 0.01010
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_001039876.3(SYNE4):c.543G>A (p.Arg181=) rs143940810 0.01006
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys) rs34203073 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092 0.01003
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830 0.00998
NM_014476.6(PDLIM3):c.831G>A (p.Pro277=) rs61734674 0.00997
NM_001244753.2(FCGR3B):c.316A>G (p.Ile106Val) rs2290834 0.00996
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser) rs117444825 0.00990
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_006012.4(CLPP):c.801G>A (p.Ala267=) rs112620134 0.00987
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528 0.00987
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619 0.00986
NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=) rs34098809 0.00985
NM_001386795.1(DTNA):c.1821G>A (p.Ala607=) rs9959365 0.00984
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_003803.4(MYOM1):c.3945G>A (p.Thr1315=) rs75748615 0.00981
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_002458.3(MUC5B):c.9626G>A (p.Arg3209Lys) rs184215485 0.00978
NM_001032283.3(TMPO):c.859G>C (p.Ala287Pro) rs7133258 0.00977
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) rs78250390 0.00976
NM_004817.4(TJP2):c.297G>A (p.Ser99=) rs72709079 0.00975
NM_001292063.2(OTOG):c.3423C>T (p.Leu1141=) rs7122875 0.00974
NM_213569.2(NEBL):c.-7C>T rs141707642 0.00974
NM_016203.4(PRKAG2):c.*3G>A rs113234987 0.00973
NM_021116.4(ADCY1):c.2818G>A (p.Ala940Thr) rs45444695 0.00973
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001897.5(CSPG4):c.914C>T (p.Thr305Met) rs76827801 0.00969
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779 0.00966
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_133379.5(TTN):c.16650T>C (p.Asp5550=) rs16866488 0.00966
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001330691.3(CEP78):c.955G>C (p.Glu319Gln) rs61730338 0.00964
NM_144672.4(OTOA):c.1095C>T (p.Gly365=) rs115543159 0.00963
NM_001369.3(DNAH5):c.6061+10A>G rs77957856 0.00962
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=) rs141810975 0.00961
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000091.5(COL4A3):c.1505-11T>C rs115757151 0.00959
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744 0.00958
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_004568.6(SERPINB6):c.240C>T (p.Asn80=) rs35826070 0.00957
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_001386795.1(DTNA):c.537G>T (p.Thr179=) rs11877640 0.00956
NM_004447.6(EPS8):c.1555C>T (p.Arg519Cys) rs76688635 0.00956
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084 0.00956
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_000091.5(COL4A3):c.73C>T (p.Pro25Ser) rs139271412 0.00952
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_022114.4(PRDM16):c.783C>T (p.Tyr261=) rs61756439 0.00952
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_000234.3(LIG1):c.1131C>T (p.Gly377=) rs4987069 0.00950
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr) rs114357468 0.00947
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_001378609.3(OTOGL):c.5598C>T (p.Cys1866=) rs61734095 0.00946
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_001378609.3(OTOGL):c.4213T>C (p.Leu1405=) rs114661503 0.00945
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001292063.2(OTOG):c.5768T>C (p.Met1923Thr) rs61732913 0.00944
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) rs34879202 0.00942
NM_145038.5(DRC1):c.36G>C (p.Pro12=) rs116549039 0.00942
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_031475.3(ESPN):c.1069C>T (p.Pro357Ser) rs116413227 0.00941
NM_001256317.3(TMPRSS3):c.617-18C>T rs225431 0.00940
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_144991.3(TSPEAR):c.552T>C (p.Asp184=) rs112735071 0.00938
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr) rs61749567 0.00937
NM_022114.4(PRDM16):c.1071C>T (p.Arg357=) rs2483221 0.00935
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_001039876.3(SYNE4):c.363G>A (p.Gln121=) rs73607773 0.00926
NM_001292063.2(OTOG):c.2512G>C (p.Gly838Arg) rs61734214 0.00925
NM_001372106.1(DNAH10):c.9540C>T (p.Asp3180=) rs61735917 0.00925
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_001128840.3(CACNA1D):c.4686C>T (p.Thr1562=) rs74534595 0.00921
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=) rs145378707 0.00920
NM_000336.3(SCNN1B):c.1781C>T (p.Thr594Met) rs1799979 0.00918
NM_000337.5(SGCD):c.-179A>G rs77808502 0.00918
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_001089.3(ABCA3):c.990+14C>T rs185179294 0.00913
NM_001286445.3(RIPOR2):c.1045G>A (p.Val349Met) rs35331811 0.00913
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_022124.6(CDH23):c.1449+74G>T rs115450602 0.00906
NM_018897.3(DNAH7):c.1139T>G (p.Met380Arg) rs144390858 0.00904
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_001386795.1(DTNA):c.933C>T (p.Ser311=) rs114170541 0.00902
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_001195263.2(PDZD7):c.159G>C (p.Gly53=) rs78072468 0.00899
NM_022114.4(PRDM16):c.3109+10G>A rs7549401 0.00898
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=) rs9630 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=) rs140927310 0.00894
NM_001292063.2(OTOG):c.3096C>T (p.Asn1032=) rs75133799 0.00891
NM_005411.5(SFTPA1):c.26A>C (p.Asn9Thr) rs139899873 0.00891
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala) rs74120667 0.00888
NM_144991.3(TSPEAR):c.534G>A (p.Pro178=) rs148713881 0.00888
NM_020877.5(DNAH2):c.492G>A (p.Arg164=) rs117035657 0.00887
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_020877.5(DNAH2):c.2648C>T (p.Ser883Leu) rs118057786 0.00885
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001145809.2(MYH14):c.5334T>C (p.Gly1778=) rs115844649 0.00878
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met) rs72655972 0.00876
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_001010892.3(RSPH4A):c.1798+11G>A rs41290844 0.00873
NM_002458.3(MUC5B):c.3928C>T (p.Pro1310Ser) rs115299660 0.00871
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_000441.2(SLC26A4):c.*11G>A rs113496951 0.00867
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_014476.6(PDLIM3):c.*12C>T rs8315 0.00865
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_001292063.2(OTOG):c.6293-7C>T rs143985593 0.00862
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_002458.3(MUC5B):c.442G>A (p.Val148Ile) rs56293203 0.00861
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_032229.3(SLITRK6):c.39T>A (p.Leu13=) rs74104527 0.00860
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_003803.4(MYOM1):c.4069+4A>C rs80328493 0.00858
NM_016599.5(MYOZ2):c.750C>T (p.Thr250=) rs17049982 0.00857
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_007214.5(SEC63):c.340-9T>C rs1569555 0.00851
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_001378609.3(OTOGL):c.6156C>T (p.Leu2052=) rs34323912 0.00845
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286 0.00845
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=) rs150362958 0.00844
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_004817.4(TJP2):c.3495G>A (p.Glu1165=) rs111595785 0.00843
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_001201397.2(EDNRB):c.39G>T (p.Pro13=) rs138247915 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro) rs28556975 0.00841
NM_005544.3(IRS1):c.2452G>C (p.Gly818Arg) rs41265094 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_203447.4(DOCK8):c.2971-14A>G rs140114637 0.00841
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) rs464696 0.00839
NM_016239.4(MYO15A):c.4206+13C>G rs141183007 0.00838
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001292063.2(OTOG):c.6775G>A (p.Ala2259Thr) rs116503251 0.00835
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_001042545.2(LTBP4):c.4410C>T (p.Cys1470=) rs115718556 0.00833
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_001267550.2(TTN):c.33340+10T>C rs72650039 0.00830
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586 0.00830
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798 0.00826
NM_005460.4(SNCAIP):c.2125G>C (p.Glu709Gln) rs55712196 0.00826
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742 0.00823
NM_002458.3(MUC5B):c.16014C>T (p.Cys5338=) rs137980255 0.00822
NM_004230.4(S1PR2):c.30C>A (p.Asn10Lys) rs56357614 0.00821
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr) rs35575696 0.00819
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696 0.00818
NM_170682.4(P2RX2):c.174-4G>T rs200811971 0.00818
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met) rs140447165 0.00815
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) rs16992990 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001018116.2(CAVIN4):c.392G>A (p.Arg131His) rs137921742 0.00814
NM_001199799.2(ILDR1):c.726G>A (p.Ala242=) rs114464909 0.00814
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822 0.00809
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe) rs117380920 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn) rs52815063 0.00800
NM_013254.4(TBK1):c.2139-11G>A rs41292027 0.00800
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815 0.00800
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_144672.4(OTOA):c.92-11C>A rs117553471 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001318895.3(FHL2):c.678C>T (p.Asn226=) rs137869171 0.00794
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_005379.4(MYO1A):c.1517G>C (p.Cys506Ser) rs12297756 0.00793
NM_144991.3(TSPEAR):c.51C>T (p.Gly17=) rs75351275 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_000260.4(MYO7A):c.1798-15C>T rs115708180 0.00789
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975 0.00786
NM_004006.3(DMD):c.*38G>A rs16989352 0.00785
NM_014476.6(PDLIM3):c.849C>T (p.Gly283=) rs61734675 0.00785
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323 0.00784
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile) rs34151474 0.00780
NM_001145809.2(MYH14):c.3663C>T (p.Asn1221=) rs78573213 0.00779
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_000414.4(HSD17B4):c.*6A>G rs111671384 0.00777
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578 0.00777
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) rs34705415 0.00775
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_001277115.2(DNAH11):c.11200A>C (p.Lys3734Gln) rs114257197 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_153700.2(STRC):c.4561C>T (p.Arg1521Trp) rs138763871 0.00764
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly) rs116545275 0.00763
NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=) rs76868547 0.00762
NM_002471.4(MYH6):c.4959+13G>A rs28730765 0.00762
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_206933.4(USH2A):c.8558+40C>A rs55713064 0.00762
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_003803.4(MYOM1):c.4718G>A (p.Arg1573Gln) rs117342470 0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_004447.6(EPS8):c.2283T>G (p.Asp761Glu) rs7137185 0.00754
NM_145045.5(ODAD3):c.173T>C (p.Phe58Ser) rs61741137 0.00754
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_032229.3(SLITRK6):c.1920A>G (p.Lys640=) rs17080144 0.00753
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_001039141.3(TRIOBP):c.4178C>T (p.Pro1393Leu) rs28450766 0.00750
NM_001103.4(ACTN2):c.705G>C (p.Val235=) rs2288599 0.00749
NM_001039141.3(TRIOBP):c.6899T>C (p.Val2300Ala) rs61737841 0.00748
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_001127217.3(SMAD9):c.12C>T (p.Thr4=) rs78237438 0.00747
NM_016366.3(CABP2):c.280C>G (p.Arg94Gly) rs139895134 0.00747
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_000091.5(COL4A3):c.88-4C>T rs148393022 0.00744
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln) rs61741195 0.00743
NM_001384140.1(PCDH15):c.4640G>A (p.Gly1547Asp) rs41274622 0.00741
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740
NM_206933.4(USH2A):c.11048-15C>T rs74141403 0.00740
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631 0.00732
NM_000395.3(CSF2RB):c.1153-13T>C rs117405606 0.00731
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_001292063.2(OTOG):c.996+9C>A rs147843540 0.00730
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=) rs112661328 0.00729
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479 0.00727
NM_004085.4(TIMM8A):c.-6C>T rs180806413 0.00726
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_016239.4(MYO15A):c.6336C>T (p.Tyr2112=) rs76886140 0.00725
NM_006073.4(TRDN):c.1871-15G>A rs59935057 0.00724
NM_206933.4(USH2A):c.9959-11T>G rs116150014 0.00724
NM_001039876.3(SYNE4):c.799C>T (p.Arg267Trp) rs79311416 0.00721
NM_153676.4(USH1C):c.2547-8A>G rs78509055 0.00720
NM_213569.2(NEBL):c.357T>C (p.Asn119=) rs115708584 0.00720
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp) rs138007679 0.00716
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_212550.5(BLOC1S3):c.339G>A (p.Leu113=) rs546645333 0.00713
NM_001038.6(SCNN1A):c.-48A>G rs150809388 0.00712
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) rs74632023 0.00712
NM_006073.4(TRDN):c.274G>A (p.Val92Ile) rs34808221 0.00711
NM_001145809.2(MYH14):c.5868C>T (p.Ala1956=) rs190695624 0.00710
NM_001018116.2(CAVIN4):c.233C>T (p.Ser78Leu) rs73657328 0.00706
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979 0.00702
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_004316.4(ASCL1):c.123A>G (p.Ala41=) rs558732328 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977 0.00701
NM_001292063.2(OTOG):c.5235C>A (p.Leu1745=) rs193083374 0.00701
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606 0.00698
NM_170665.4(ATP2A2):c.-10C>G rs201929640 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_003803.4(MYOM1):c.139A>G (p.Ser47Gly) rs202145133 0.00695
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_001292063.2(OTOG):c.1797G>A (p.Arg599=) rs73418068 0.00690
NM_022124.6(CDH23):c.1134+22C>T rs115745871 0.00690
NM_004086.3(COCH):c.1269C>T (p.Asp423=) rs35353967 0.00689
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_016239.4(MYO15A):c.3140C>G (p.Pro1047Arg) rs77565048 0.00686
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met) rs61757218 0.00685
NM_001292063.2(OTOG):c.21G>A (p.Ala7=) rs149500671 0.00685
NM_022114.4(PRDM16):c.2091A>T (p.Ala697=) rs35184988 0.00685
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329 0.00684
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) rs6660707 0.00683
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00682
NM_024867.4(SPEF2):c.3802-8G>A rs138022749 0.00682
NM_000092.5(COL4A4):c.198A>G (p.Pro66=) rs147947155 0.00681
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_015340.4(LARS2):c.157T>C (p.Leu53=) rs141607519 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_003803.4(MYOM1):c.2110G>A (p.Glu704Lys) rs149528866 0.00679
NM_012330.4(KAT6B):c.3649G>T (p.Ala1217Ser) rs57372986 0.00678
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_002906.4(RDX):c.1059A>G (p.Gln353=) rs139953187 0.00677
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_001006630.2(CHRM2):c.1197T>C (p.Thr399=) rs34586275 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_001038.6(SCNN1A):c.-28T>C rs61759919 0.00673
NM_001292063.2(OTOG):c.5828C>T (p.Thr1943Met) rs75677194 0.00673
NM_002458.3(MUC5B):c.933C>T (p.His311=) rs145446448 0.00673
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001243133.2(NLRP3):c.3005+25C>T rs61841189 0.00667
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) rs76815324 0.00667
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001103.4(ACTN2):c.351= (p.Ile117=) rs1341864 0.00666
NM_001127453.2(GSDME):c.577-15C>T rs11970787 0.00666
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542 0.00665
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_022114.4(PRDM16):c.38-15C>T rs9662053 0.00658
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile) rs115275492 0.00656
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_024867.4(SPEF2):c.1262G>A (p.Arg421His) rs139580877 0.00656
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001042545.2(LTBP4):c.135C>T (p.Cys45=) rs185400394 0.00654
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331 0.00653
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) rs117064827 0.00652
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00649
NM_001384474.1(LOXHD1):c.1431+10G>T rs57330753 0.00648
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro) rs180703235 0.00643
NM_001039141.3(TRIOBP):c.4165C>A (p.Leu1389Ile) rs144175566 0.00642
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_001018116.2(CAVIN4):c.408+6C>A rs116000902 0.00641
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=) rs116124529 0.00639
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=) rs146781877 0.00639
NM_021116.4(ADCY1):c.*3G>T rs12721481 0.00639
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) rs148478875 0.00638
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser) rs61731030 0.00638
NM_001039141.3(TRIOBP):c.7032G>A (p.Glu2344=) rs61737839 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000492.4(CFTR):c.1680-871A>G rs572658447 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_001039141.3(TRIOBP):c.6571C>T (p.His2191Tyr) rs61729063 0.00635
NM_133379.5(TTN):c.16508G>C (p.Ser5503Thr) rs16866489 0.00635
NM_001039141.3(TRIOBP):c.6806A>G (p.Asn2269Ser) rs61729060 0.00634
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr) rs78763451 0.00634
NM_005422.4(TECTA):c.4011G>A (p.Ala1337=) rs144441070 0.00634
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=) rs3819970 0.00634
NM_001347886.2(DNAH3):c.5865C>T (p.Asn1955=) rs148237228 0.00633
NM_005422.4(TECTA):c.4074G>A (p.Thr1358=) rs141674508 0.00633
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_000092.5(COL4A4):c.3232G>A (p.Ala1078Thr) rs77277077 0.00631
NM_002458.3(MUC5B):c.17043C>T (p.Cys5681=) rs61734215 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_002230.4(JUP):c.*2C>T rs112879398 0.00630
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met) rs77321498 0.00629
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_001277115.2(DNAH11):c.6117G>A (p.Ala2039=) rs78763603 0.00628
NM_001286445.3(RIPOR2):c.3044-12T>C rs115680381 0.00627
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_133379.5(TTN):c.13068A>G (p.Gln4356=) rs16866490 0.00626
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly) rs184704920 0.00624
NM_001034853.2(RPGR):c.778+13T>A rs199625400 0.00624
NM_002458.3(MUC5B):c.15826G>T (p.Val5276Leu) rs55893724 0.00624
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_004100.5(EYA4):c.111T>C (p.Ser37=) rs35863035 0.00620
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001142784.3(IL11RA):c.128C>T (p.Ser43Phe) rs76429508 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754 0.00615
NM_203447.4(DOCK8):c.2862A>T (p.Pro954=) rs117610764 0.00615
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_001128840.3(CACNA1D):c.1350G>A (p.Pro450=) rs35434249 0.00612
NM_003803.4(MYOM1):c.539C>T (p.Thr180Ile) rs61735396 0.00612
NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=) rs61731629 0.00612
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_001292063.2(OTOG):c.6326T>C (p.Val2109Ala) rs182000850 0.00608
NM_024915.4(GRHL2):c.1243G>A (p.Val415Ile) rs3779617 0.00608
NM_000542.5(SFTPB):c.529G>A (p.Val177Ile) rs34550459 0.00607
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_016929.5(CLIC5):c.588+1486T>C rs75780343 0.00605
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001292063.2(OTOG):c.1215T>C (p.Thr405=) rs73418062 0.00603
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn) rs145653077 0.00603
NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) rs17097468 0.00602
NM_004447.6(EPS8):c.1482T>C (p.Ser494=) rs75560906 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_058246.4(DNAJB6):c.899-6C>T rs78337193 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_004100.5(EYA4):c.103C>T (p.Leu35=) rs35562371 0.00597
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877 0.00596
NM_001042544.1(LTBP4):c.108G>A (p.Gln36=) rs184935788 0.00595
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_001386795.1(DTNA):c.1438C>A (p.Pro480Thr) rs77320474 0.00593
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly) rs72647896 0.00591
NM_001032283.3(TMPO):c.225G>A (p.Pro75=) rs59027673 0.00590
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_001384474.1(LOXHD1):c.2599-11C>T rs150139569 0.00590
NM_003002.4(SDHD):c.*428A>G rs184654032 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_170682.4(P2RX2):c.699C>T (p.Asp233=) rs113782309 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_006012.4(CLPP):c.368-8G>A rs143053584 0.00583
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_003803.4(MYOM1):c.3453T>A (p.Asp1151Glu) rs143879853 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001039141.3(TRIOBP):c.6472+10C>T rs369182277 0.00575
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn) rs76334696 0.00575
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_001384140.1(PCDH15):c.-5A>G rs142016527 0.00570
NM_002447.4(MST1R):c.1838A>C (p.Gln613Pro) rs35986685 0.00570
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042 0.00570
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu) rs116448422 0.00567
NM_001128840.3(CACNA1D):c.3870+13C>G rs148858045 0.00567
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_001384140.1(PCDH15):c.4671+1053A>C rs149208928 0.00562
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_001277115.2(DNAH11):c.858A>G (p.Glu286=) rs185273259 0.00558
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr) rs41307788 0.00558
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781 0.00558
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467 0.00555
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001145809.2(MYH14):c.4255C>T (p.Arg1419Trp) rs115019972 0.00553
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln) rs138964358 0.00550
NM_001378609.3(OTOGL):c.5923T>C (p.Leu1975=) rs73139245 0.00550
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_002458.3(MUC5B):c.324C>T (p.Arg108=) rs56168747 0.00550
NM_015340.4(LARS2):c.22T>C (p.Leu8=) rs77377258 0.00549
NM_022124.6(CDH23):c.894G>A (p.Leu298=) rs111033474 0.00549
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001384474.1(LOXHD1):c.5868C>T (p.His1956=) rs114974101 0.00548
NR_029615.1(MIR183):n.51G>T rs72631833 0.00548
NM_004817.4(TJP2):c.61-7344G>C rs73450853 0.00547
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001114086.2(CLIC5):c.10G>A (p.Glu4Lys) rs116755302 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618 0.00545
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) rs78576418 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_015404.4(WHRN):c.2256G>C (p.Gln752His) rs6478078 0.00544
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_004004.6(GJB2):c.-23+12G>A rs397516866 0.00541
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_001292063.2(OTOG):c.385+7C>T rs139222878 0.00540
NM_006393.3(NEBL):c.1008+4C>T rs71534253 0.00540
NM_001039141.3(TRIOBP):c.5052G>T (p.Thr1684=) rs41283241 0.00539
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375 0.00539
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_006393.3(NEBL):c.1117-6T>G rs71578938 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=) rs370420046 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_003803.4(MYOM1):c.1900+3A>C rs77613865 0.00536
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) rs374427407 0.00535
NM_001128840.3(CACNA1D):c.1220+700C>T rs117630105 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_003803.4(MYOM1):c.1890G>A (p.Glu630=) rs36098676 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val) rs79718972 0.00532
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_016616.5(NME8):c.271-14C>T rs75531720 0.00526
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512 0.00526
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_001039141.3(TRIOBP):c.6135C>T (p.Pro2045=) rs11546529 0.00524
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409 0.00524
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977 0.00522
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_015340.4(LARS2):c.1131C>T (p.Pro377=) rs144183054 0.00518
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00518
NM_002471.4(MYH6):c.4899C>T (p.His1633=) rs61742474 0.00517
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183 0.00517
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835 0.00515
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624 0.00513
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) rs45610843 0.00512
NM_002700.3(POU4F3):c.663C>A (p.Gly221=) rs61737151 0.00511
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) rs139512218 0.00510
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_002309.5(LIF):c.256G>A (p.Val86Met) rs41281637 0.00508
NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr) rs115031369 0.00508
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=) rs147433902 0.00507
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001103.4(ACTN2):c.870G>A (p.Ala290=) rs116464082 0.00506
NM_004230.4(S1PR2):c.903G>A (p.Arg301=) rs149865919 0.00506
NM_004999.4(MYO6):c.3333G>A (p.Val1111=) rs114970874 0.00506
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) rs5346 0.00500
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=) rs28365112 0.00496
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_000395.3(CSF2RB):c.1596C>T (p.Ser532=) rs115580664 0.00495
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_017433.5(MYO3A):c.1971T>C (p.Thr657=) rs112195128 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=) rs12073994 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891 0.00486
NM_153700.2(STRC):c.498G>A (p.Pro166=) rs139848805 0.00486
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_001292063.2(OTOG):c.7825C>A (p.Gln2609Lys) rs61995750 0.00485
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His) rs61733583 0.00485
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925 0.00483
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_021116.4(ADCY1):c.3184G>A (p.Gly1062Ser) rs76737937 0.00483
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00482
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_080860.4(RSPH1):c.365+13T>C rs181902996 0.00482
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter) rs76274604 0.00480
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421 0.00479
NM_133379.5(TTN):c.13455T>C (p.Pro4485=) rs146470872 0.00477
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_207034.3(EDN3):c.525A>G (p.Gln175=) rs34780366 0.00474
NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) rs140764671 0.00473
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile) rs80136515 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003573.2(LTBP4):c.2389+9A>G rs73544980 0.00471
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=) rs138437852 0.00470
NM_016239.4(MYO15A):c.6192G>A (p.Gly2064=) rs55688805 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_021075.4(NDUFV3):c.168A>C (p.Lys56Asn) rs141922962 0.00469
NM_022114.4(PRDM16):c.1518G>A (p.Thr506=) rs368589754 0.00469
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_144991.3(TSPEAR):c.1779G>A (p.Ser593=) rs138358770 0.00468
NM_144991.3(TSPEAR):c.702C>T (p.Asn234=) rs117791519 0.00468
NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=) rs34796681 0.00467
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr) rs113745835 0.00467
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319 0.00467
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294 0.00466
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_014000.3(VCL):c.1557C>A (p.Ile519=) rs150120464 0.00466
NM_015340.4(LARS2):c.765G>A (p.Ala255=) rs116272561 0.00466
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_004316.4(ASCL1):c.138A>T (p.Ala46=) rs552552603 0.00464
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) rs59933498 0.00463
NM_016616.5(NME8):c.528+11T>C rs117681493 0.00463
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_003672.4(CDC14A):c.608-10G>A rs114626664 0.00462
NM_004086.3(COCH):c.1167T>C (p.Phe389=) rs77370101 0.00462
NM_017433.5(MYO3A):c.2169T>C (p.Asn723=) rs114982270 0.00462
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_001277115.2(DNAH11):c.4501-7A>T rs62447794 0.00461
NM_003672.4(CDC14A):c.1755+8C>T rs139956023 0.00461
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_024915.4(GRHL2):c.1500G>A (p.Thr500=) rs34550163 0.00460
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001128228.3(TPRN):c.1929G>A (p.Val643=) rs115446132 0.00458
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_001277115.2(DNAH11):c.2275-15G>T rs60290948 0.00458
NM_001451.3(FOXF1):c.1047C>T (p.Asn349=) rs116756021 0.00458
NM_022773.4(LMF1):c.1052G>A (p.Arg351Gln) rs192520307 0.00458
NM_024915.4(GRHL2):c.1517+12A>G rs142083150 0.00458
NM_001292063.2(OTOG):c.7045A>G (p.Ile2349Val) rs191722806 0.00457
NM_001318895.3(FHL2):c.689-10C>G rs115841332 0.00456
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857 0.00455
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_201384.3(PLEC):c.13248G>A (p.Thr4416=) rs115621402 0.00455
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_003672.4(CDC14A):c.819C>G (p.Ala273=) rs28364884 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) rs11110359 0.00452
NM_001018116.2(CAVIN4):c.488A>G (p.Asp163Gly) rs111884608 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001292063.2(OTOG):c.3525+10C>A rs113275496 0.00451
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217 0.00451
NM_016239.4(MYO15A):c.5894G>A (p.Arg1965His) rs139347804 0.00451
NM_172230.3(SYVN1):c.1073A>C (p.His358Pro) rs756191256 0.00451
NR_029512.1(MIR96):n.42C>T rs73159662 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_007078.3(LDB3):c.1014A>G (p.Thr338=) rs150209221 0.00450
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=) rs72657379 0.00449
NM_001384140.1(PCDH15):c.4671+1438A>C rs16937768 0.00449
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=) rs114267234 0.00446
NM_021116.4(ADCY1):c.897C>T (p.His299=) rs78087585 0.00446
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191 0.00446
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295 0.00445
NM_001277115.2(DNAH11):c.10027-10T>C rs116368970 0.00445
NM_001277115.2(DNAH11):c.4726-15T>C rs17144822 0.00445
NM_001146079.2(CLDN14):c.621C>T (p.Thr207=) rs139437157 0.00444
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg) rs142751309 0.00442
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr) rs115015305 0.00441
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_001369.3(DNAH5):c.5707C>T (p.Leu1903=) rs7719896 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001384140.1(PCDH15):c.4671+1087C>T rs12359240 0.00438
NM_002471.4(MYH6):c.-5C>A rs183611755 0.00438
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00438
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg) rs115039883 0.00438
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_004006.3(DMD):c.1718C>T (p.Ala573Val) rs5972599 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) rs148112044 0.00435
NM_003803.4(MYOM1):c.739G>A (p.Glu247Lys) rs139422575 0.00435
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_194248.3(OTOF):c.3076A>T (p.Arg1026Trp) rs145239283 0.00434
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) rs114904237 0.00433
NM_001369.3(DNAH5):c.6062-4G>A rs143392650 0.00433
NM_006073.4(TRDN):c.1721-4A>G rs60743141 0.00430
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro) rs141149453 0.00430
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_001277115.2(DNAH11):c.12644T>C (p.Ile4215Thr) rs150663302 0.00428
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val) rs72657373 0.00428
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys) rs567966154 0.00428
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val) rs34732372 0.00428
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_012208.4(HARS2):c.868C>T (p.Leu290=) rs73273316 0.00427
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_001195263.2(PDZD7):c.1447G>A (p.Asp483Asn) rs76941691 0.00426
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_032122.5(DTNBP1):c.811+96G>A rs16876569 0.00424
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483 0.00423
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_003673.4(TCAP):c.191C>T (p.Ser64Leu) rs45458802 0.00421
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro) rs181475191 0.00421
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_001292063.2(OTOG):c.3674G>A (p.Arg1225His) rs116947228 0.00420
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=) rs116378128 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_031475.3(ESPN):c.1104T>G (p.Phe368Leu) rs142638391 0.00418
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=) rs111033505 0.00418
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_001393500.2(TOMT):c.253G>A (p.Val85Ile) rs181092713 0.00416
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_017433.5(MYO3A):c.3589G>A (p.Glu1197Lys) rs75801377 0.00414
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 0.00414
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_002458.3(MUC5B):c.2429C>A (p.Thr810Asn) rs190624357 0.00413
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) rs182293382 0.00413
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929 0.00412
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_001384474.1(LOXHD1):c.1053G>A (p.Leu351=) rs140842472 0.00409
NM_017433.5(MYO3A):c.1777-14G>T rs4592324 0.00409
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476 0.00408
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267 0.00407
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_001267550.2(TTN):c.13706G>A (p.Ser4569Asn) rs115532048 0.00405
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00404
NM_001145809.2(MYH14):c.2763A>G (p.Lys921=) rs191788683 0.00404
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys) rs143362381 0.00403
NM_001386795.1(DTNA):c.1993+7T>C rs138590000 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile) rs77419653 0.00403
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054 0.00402
NM_001286445.3(RIPOR2):c.1613C>T (p.Ser538Leu) rs142889670 0.00401
NM_001286445.3(RIPOR2):c.1850T>G (p.Ile617Ser) rs115013548 0.00401
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) rs34035085 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_001277115.2(DNAH11):c.13050-15C>T rs149634292 0.00399
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_016366.3(CABP2):c.188G>A (p.Arg63Gln) rs149431491 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_001376256.1(CRYM):c.807T>C (p.Phe269=) rs144588424 0.00398
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001286445.3(RIPOR2):c.1773A>C (p.Leu591Phe) rs143785002 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_001286445.3(RIPOR2):c.1716T>C (p.Ser572=) rs148527955 0.00394
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_004568.6(SERPINB6):c.1036G>A (p.Val346Ile) rs61737420 0.00394
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904 0.00394
NM_016239.4(MYO15A):c.8339C>T (p.Thr2780Met) rs143826293 0.00394
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala) rs145294917 0.00394
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) rs56829872 0.00393
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_001292063.2(OTOG):c.2967G>A (p.Pro989=) rs11024331 0.00392
NM_002473.6(MYH9):c.1555-12C>T rs148641114 0.00392
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001378609.3(OTOGL):c.343A>C (p.Met115Leu) rs200912084 0.00391
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_001378609.3(OTOGL):c.6204A>G (p.Gln2068=) rs35397172 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_203447.4(DOCK8):c.3022C>T (p.Arg1008Trp) rs16937932 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) rs139408145 0.00386
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe) rs187400273 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_001292063.2(OTOG):c.1059C>T (p.Val353=) rs74921579 0.00385
NM_032578.4(MYPN):c.3078G>A (p.Gly1026=) rs114479328 0.00385
NM_206933.4(USH2A):c.486-13G>A rs116367260 0.00385
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000195.5(HPS1):c.597C>T (p.Pro199=) rs113520308 0.00382
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_001286445.3(RIPOR2):c.1452A>G (p.Pro484=) rs151067857 0.00380
NM_001318895.3(FHL2):c.321C>T (p.Thr107=) rs139644436 0.00380
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141 0.00379
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_001286445.3(RIPOR2):c.1397G>A (p.Arg466Lys) rs142328958 0.00379
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_002473.6(MYH9):c.2229+13G>T rs139146113 0.00377
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761 0.00376
NM_033118.4(MYLK2):c.1711-6C>T rs76603530 0.00376
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864 0.00375
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_012156.2(EPB41L1):c.1245C>T (p.Pro415=) rs77396561 0.00373
NM_022114.4(PRDM16):c.387+6C>T rs369010644 0.00373
NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His) rs111753827 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000260.4(MYO7A):c.5481-14G>A rs113075052 0.00372
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_001292063.2(OTOG):c.534C>T (p.Ser178=) rs61995706 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_024915.4(GRHL2):c.1098+9C>T rs189993760 0.00370
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_001127217.3(SMAD9):c.756T>C (p.His252=) rs146836873 0.00368
NM_002471.4(MYH6):c.4395G>A (p.Ser1465=) rs74039310 0.00368
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_001267550.2(TTN):c.10854A>C (p.Gln3618His) rs79466278 0.00365
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=) rs113401495 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_153700.2(STRC):c.4863C>G (p.Leu1621=) rs139683375 0.00364
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=) rs142639517 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_181078.3(IL21R):c.137C>T (p.Thr46Met) rs137946070 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile) rs76394680 0.00359
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) rs112350099 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_004230.4(S1PR2):c.672C>T (p.Ala224=) rs73922356 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_001039141.3(TRIOBP):c.4643C>T (p.Pro1548Leu) rs78894866 0.00357
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00357
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_001378609.3(OTOGL):c.918G>A (p.Pro306=) rs138795425 0.00356
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001199799.2(ILDR1):c.764C>T (p.Pro255Leu) rs144519399 0.00355
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_005422.4(TECTA):c.-1-12T>C rs145916279 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_001378609.3(OTOGL):c.5227T>A (p.Leu1743Ile) rs61729710 0.00351
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys) rs119486097 0.00351
NM_133261.3(GIPC3):c.225+11C>T rs185551765 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_172245.4(CSF2RA):c.300T>C (p.Thr100=) rs144521208 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) rs5350 0.00348
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_012144.4(DNAI1):c.639G>A (p.Thr213=) rs78865254 0.00348
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) rs117612144 0.00347
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_003803.4(MYOM1):c.2179A>G (p.Thr727Ala) rs115382168 0.00345
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=) rs79143968 0.00344
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_004281.4(BAG3):c.606G>T (p.Pro202=) rs74157690 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) rs113203706 0.00339
NM_005379.4(MYO1A):c.49G>C (p.Glu17Gln) rs141658242 0.00339
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) rs149222801 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu) rs117005078 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_022124.6(CDH23):c.3220+15C>T rs79267977 0.00338
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His) rs11893228 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001146079.2(CLDN14):c.*10G>C rs139628442 0.00336
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_021116.4(ADCY1):c.2327+6T>A rs75860455 0.00335
NM_153700.2(STRC):c.3540T>G (p.Leu1180=) rs199524735 0.00335
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) rs78535378 0.00334
NM_003803.4(MYOM1):c.1878T>C (p.Ile626=) rs180916932 0.00334
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro) rs61731652 0.00334
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111 0.00334
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_003566.4(EEA1):c.3216T>A (p.Asn1072Lys) rs118081497 0.00332
NM_003803.4(MYOM1):c.1843+10T>G rs116743447 0.00332
NM_005411.5(SFTPA1):c.342T>C (p.Phe114=) rs1059056 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_004230.4(S1PR2):c.249C>T (p.Gly83=) rs73922357 0.00331
NM_016239.4(MYO15A):c.5880C>T (p.His1960=) rs201487604 0.00331
NM_004817.4(TJP2):c.2040G>A (p.Gly680=) rs111723895 0.00330
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln) rs149390094 0.00330
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_001330691.3(CEP78):c.1780C>A (p.Gln594Lys) rs61730342 0.00328
NM_004281.4(BAG3):c.187C>G (p.Pro63Ala) rs144041999 0.00328
NM_032119.4(ADGRV1):c.10607G>A (p.Arg3536His) rs144618536 0.00328
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001378609.3(OTOGL):c.929G>A (p.Gly310Glu) rs186616540 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp) rs145292219 0.00326
NR_029512.1(MIR96):n.36T>C rs41274239 0.00326
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
NM_001032283.3(TMPO):c.*1A>G rs1058300 0.00324
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_016239.4(MYO15A):c.1158C>T (p.Gly386=) rs186829587 0.00324
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625 0.00324
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_001372.4(DNAH9):c.9543G>A (p.Pro3181=) rs117483481 0.00323
NM_003803.4(MYOM1):c.1455G>C (p.Arg485=) rs193006519 0.00323
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_004817.4(TJP2):c.644G>A (p.Arg215His) rs201977617 0.00322
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_178335.3(CCDC50):c.1181A>G (p.Lys394Arg) rs114502673 0.00322
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys) rs150273659 0.00321
NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr) rs150404143 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=) rs73568059 0.00319
NM_005422.4(TECTA):c.690C>T (p.Ile230=) rs34605023 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_001292063.2(OTOG):c.639G>T (p.Glu213Asp) rs61736015 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=) rs367833904 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=) rs144680712 0.00314
NM_030930.4(UNC93B1):c.393-10C>T rs117183629 0.00314
NM_153702.4(ELMOD2):c.428A>C (p.Lys143Thr) rs142450830 0.00314
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_001035.3(RYR2):c.11476+15C>T rs192323827 0.00312
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001292063.2(OTOG):c.843G>A (p.Lys281=) rs570688276 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390 0.00310
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser) rs41271277 0.00309
NM_001145809.2(MYH14):c.4586G>A (p.Arg1529His) rs185232438 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_194248.3(OTOF):c.1580-7G>T rs116430138 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00308
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln) rs76461792 0.00308
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_020297.4(ABCC9):c.1296C>T (p.Pro432=) rs10770865 0.00308
NM_138691.3(TMC1):c.2260+3_2260+5del rs546307383 0.00308
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_015690.5(STK36):c.1158T>C (p.Asp386=) rs55839518 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001384140.1(PCDH15):c.3717+8G>C rs200556301 0.00305
NM_007373.4(SHOC2):c.-159T>C rs72819758 0.00305
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584 0.00303
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001363118.2(SLC52A2):c.555C>T (p.Leu185=) rs74370046 0.00303
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser) rs61748627 0.00303
NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln) rs35366555 0.00302
NM_170682.4(P2RX2):c.1332T>A (p.Pro444=) rs116834114 0.00302
NM_174878.3(CLRN1):c.*5C>T rs111398745 0.00302
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_001369.3(DNAH5):c.4796+11C>A rs146696580 0.00299
NM_004006.3(DMD):c.8218-798G>A rs149479376 0.00299
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00299
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_144498.4(OSBPL2):c.792T>G (p.His264Gln) rs146042452 0.00299
NM_003803.4(MYOM1):c.1160C>T (p.Thr387Ile) rs189973743 0.00298
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223 0.00297
NM_194248.3(OTOF):c.3734-10A>C rs73920284 0.00297
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_004985.5(KRAS):c.-178C>A rs190218019 0.00296
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_001277115.2(DNAH11):c.8798-5G>A rs189821372 0.00292
NM_002473.6(MYH9):c.5181G>A (p.Leu1727=) rs115170675 0.00292
NM_003672.4(CDC14A):c.1604A>G (p.Gln535Arg) rs113885721 0.00292
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) rs113747896 0.00291
NM_001292063.2(OTOG):c.7585+12G>A rs538124093 0.00291
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901 0.00290
NM_001031679.3(MSRB3):c.180C>T (p.Thr60=) rs147698935 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_001292063.2(OTOG):c.1213+14A>C rs143302987 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn) rs141010212 0.00287
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345 0.00287
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00287
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_001039213.4(CEACAM16):c.1203C>T (p.Tyr401=) rs61744494 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_003803.4(MYOM1):c.2384+4A>T rs73373171 0.00286
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941 0.00285
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842 0.00284
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001039213.4(CEACAM16):c.43T>C (p.Phe15Leu) rs114907619 0.00283
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=) rs143603583 0.00282
NM_001199799.2(ILDR1):c.1326C>A (p.Arg442=) rs148350512 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_002458.3(MUC5B):c.1440G>A (p.Ala480=) rs116030616 0.00282
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182 0.00281
NM_001330691.3(CEP78):c.1566C>T (p.Gly522=) rs199743218 0.00281
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=) rs192266658 0.00281
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_006393.3(NEBL):c.1450-9T>G rs45628140 0.00280
NM_015340.4(LARS2):c.2307C>T (p.Ser769=) rs143838895 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_032119.4(ADGRV1):c.8567-13C>T rs75881968 0.00280
NM_172245.4(CSF2RA):c.549G>C (p.Leu183=) rs139093878 0.00280
NM_001384474.1(LOXHD1):c.6783G>A (p.Gly2261=) rs115835484 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_006383.4(CIB2):c.448G>A (p.Asp150Asn) rs141932061 0.00279
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=) rs148772706 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535 0.00276
NM_003803.4(MYOM1):c.2062A>T (p.Thr688Ser) rs188677538 0.00276
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=) rs149408382 0.00276
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001039876.3(SYNE4):c.*5T>C rs73928380 0.00275
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg) rs150199226 0.00275
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_006012.4(CLPP):c.555+3G>A rs200101759 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_001367479.1(DNAH14):c.5031C>G (p.Leu1677=) rs188496398 0.00273
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_012208.4(HARS2):c.7C>G (p.Leu3Val) rs186043734 0.00273
NM_020751.3(COG6):c.1693-7_1693-6del rs1491507046 0.00273
NM_198999.3(SLC26A5):c.-13A>C rs142432368 0.00273
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996 0.00272
NM_006393.3(NEBL):c.2149-5G>A rs71578956 0.00272
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393 0.00272
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_001384474.1(LOXHD1):c.2307C>T (p.Ser769=) rs115658952 0.00271
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919 0.00271
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_015846.4(MBD1):c.1410G>A (p.Pro470=) rs116701586 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_001005242.3(PKP2):c.819G>A (p.Pro273=) rs3748279 0.00266
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) rs61734891 0.00266
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048 0.00265
NM_022124.6(CDH23):c.5419G>A (p.Val1807Met) rs143993990 0.00265
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) rs11568546 0.00265
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_005379.4(MYO1A):c.2724+7G>A rs55985817 0.00264
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743 0.00264
NM_016239.4(MYO15A):c.4779+9G>A rs183256997 0.00264
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_003803.4(MYOM1):c.1901-14T>C rs200115559 0.00262
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=) rs72647878 0.00261
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys) rs34965084 0.00260
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836 0.00260
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_001386795.1(DTNA):c.999C>T (p.Ile333=) rs61737438 0.00258
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_001292063.2(OTOG):c.1104-4A>C rs149163390 0.00257
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_000542.5(SFTPB):c.291G>A (p.Glu97=) rs34682912 0.00255
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_144991.3(TSPEAR):c.1746C>T (p.Leu582=) rs147258456 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_005379.4(MYO1A):c.2032A>T (p.Ile678Phe) rs151269703 0.00253
NM_005422.4(TECTA):c.3304G>A (p.Val1102Ile) rs34658230 0.00253
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001031679.3(MSRB3):c.486G>A (p.Ala162=) rs35393316 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_006393.3(NEBL):c.154-11C>A rs41277376 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) rs77367833 0.00251
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys) rs35315400 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_019616.4(F7):c.739+7A>G rs519650 0.00249
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
NM_001145809.2(MYH14):c.5529C>T (p.Ser1843=) rs12610591 0.00248
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg) rs139459217 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640 0.00247
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys) rs78427072 0.00246
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392 0.00246
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484 0.00245
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00245
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_001292063.2(OTOG):c.4022G>A (p.Arg1341Gln) rs145689709 0.00242
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_004447.6(EPS8):c.2230G>A (p.Val744Ile) rs77967764 0.00242
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_004447.6(EPS8):c.2099T>C (p.Ile700Thr) rs111934716 0.00241
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=) rs148723625 0.00241
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479 0.00240
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_001292063.2(OTOG):c.1340A>G (p.Asn447Ser) rs115772736 0.00238
NM_002471.4(MYH6):c.1449C>T (p.Asn483=) rs145447555 0.00238
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=) rs200913298 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132 0.00237
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_006383.4(CIB2):c.462G>A (p.Glu154=) rs117153558 0.00236
NM_017433.5(MYO3A):c.4589A>T (p.Gln1530Leu) rs147749053 0.00236
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00235
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=) rs79955190 0.00235
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val) rs117462138 0.00235
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) rs146730044 0.00234
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_001377458.1(CLCC1):c.*2854T>C rs138132875 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_024009.3(GJB3):c.313C>A (p.His105Asn) rs150245955 0.00233
NM_001292063.2(OTOG):c.1397T>G (p.Phe466Cys) rs147355325 0.00232
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_006073.4(TRDN):c.430C>T (p.His144Tyr) rs79182520 0.00232
NM_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_153702.4(ELMOD2):c.116T>G (p.Val39Gly) rs150922490 0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071 0.00230
NM_001378609.3(OTOGL):c.5307T>C (p.Tyr1769=) rs183555119 0.00230
NM_080680.3(COL11A2):c.*4C>T rs186720023 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381 0.00229
NM_001256317.3(TMPRSS3):c.957G>C (p.Met319Ile) rs115223836 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00229
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_024915.4(GRHL2):c.*6G>A rs116154722 0.00228
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001330691.3(CEP78):c.2077A>C (p.Arg693=) rs61730339 0.00227
NM_001384140.1(PCDH15):c.4672-1699G>A rs7090408 0.00227
NM_001379180.1(ESRRB):c.1120+8C>T rs373429794 0.00226
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001039141.3(TRIOBP):c.4333A>G (p.Arg1445Gly) rs199640717 0.00225
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_002458.3(MUC5B):c.15104G>A (p.Arg5035His) rs141222463 0.00225
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala) rs147287437 0.00225
NM_003672.4(CDC14A):c.1711G>A (p.Gly571Arg) rs61752469 0.00224
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001145809.2(MYH14):c.5533C>T (p.Arg1845Trp) rs199600574 0.00223
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001378609.3(OTOGL):c.1973A>T (p.His658Leu) rs79711087 0.00222
NM_003803.4(MYOM1):c.2802A>G (p.Pro934=) rs79397275 0.00222
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=) rs189541861 0.00222
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg) rs147659164 0.00222
NM_133261.3(GIPC3):c.706-12G>A rs112949777 0.00222
NM_001039213.4(CEACAM16):c.352G>A (p.Glu118Lys) rs183860695 0.00221
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924 0.00221
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala) rs142849754 0.00221
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179 0.00220
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) rs140126678 0.00220
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) rs147369439 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_001384140.1(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341 0.00219
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=) rs147447646 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val) rs72787346 0.00218
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112 0.00217
NM_001201380.3(CNTNAP3B):c.1844del (p.Leu615fs) rs375643696 0.00217
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_015340.4(LARS2):c.2547T>C (p.Ala849=) rs78587006 0.00217
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453 0.00217
NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys) rs112892337 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066 0.00217
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001386795.1(DTNA):c.1176-8T>C rs41274310 0.00216
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_153702.4(ELMOD2):c.*9C>T rs75824346 0.00215
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545 0.00214
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_016239.4(MYO15A):c.5133+15A>G rs150128469 0.00214
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) rs111033498 0.00214
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=) rs72657400 0.00213
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00212
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_006261.5(PROP1):c.630A>C (p.Pro210=) rs535993919 0.00212
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816 0.00211
NM_016239.4(MYO15A):c.7655-7C>G rs191171943 0.00211
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_138420.4(AHNAK2):c.9085G>C (p.Glu3029Gln) rs192951700 0.00211
NM_001105206.3(LAMA4):c.195+131C>G rs138579810 0.00210
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264 0.00210
NM_001292063.2(OTOG):c.5549C>G (p.Pro1850Arg) rs376684690 0.00210
NM_001292063.2(OTOG):c.7693+14A>T rs545542156 0.00210
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00210
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) rs151001222 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met) rs143570915 0.00209
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001330.5(CTF1):c.591C>G (p.Pro197=) rs397516652 0.00208
NM_001384140.1(PCDH15):c.4671+1109C>T rs145418788 0.00208
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=) rs150081280 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=) rs190486507 0.00208
NM_000260.4(MYO7A):c.4323+12G>A rs115708951 0.00207
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) rs115324990 0.00207
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_013390.3(CEMIP2):c.491A>T (p.Asp164Val) rs146439095 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00205
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300 0.00205
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_014908.4(DOLK):c.771C>T (p.Ile257=) rs147416890 0.00205
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361 0.00205
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=) rs546907305 0.00204
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys) rs77573084 0.00204
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_017433.5(MYO3A):c.2973G>T (p.Arg991=) rs146647767 0.00204
NM_032119.4(ADGRV1):c.17735C>G (p.Ser5912Cys) rs146120983 0.00204
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529 0.00203
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762 0.00203
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00203
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_015340.4(LARS2):c.1692C>T (p.Ala564=) rs149911756 0.00203
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_194248.3(OTOF):c.37C>T (p.Leu13=) rs76180450 0.00203
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837 0.00202
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His) rs200153555 0.00202
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser) rs145520397 0.00201
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_005379.4(MYO1A):c.541+12C>T rs150907076 0.00201
NM_005411.5(SFTPA1):c.630C>G (p.Asn210Lys) rs150214547 0.00201
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001267550.2(TTN):c.69412+10G>C rs72646883 0.00200
NM_004700.4(KCNQ4):c.1292+12G>A rs200426006 0.00200
NM_016929.5(CLIC5):c.341C>A (p.Ala114Glu) rs143360018 0.00200
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_002471.4(MYH6):c.4416A>G (p.Ser1472=) rs140800076 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_144672.4(OTOA):c.1522G>A (p.Val508Met) rs150415498 0.00199
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser) rs148109368 0.00198
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp) rs141407971 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00197
NM_003803.4(MYOM1):c.461C>T (p.Thr154Met) rs140845661 0.00197
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768 0.00197
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met) rs150403702 0.00197
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240 0.00196
NM_194248.3(OTOF):c.509+11G>A rs200010052 0.00196
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_004006.3(DMD):c.2380+11G>A rs183120304 0.00195
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) rs200528472 0.00195
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) rs190922596 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_172245.4(CSF2RA):c.647-7G>A rs189869234 0.00195
NM_172245.4(CSF2RA):c.997G>A (p.Val333Met) rs150290042 0.00195
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_001330691.3(CEP78):c.1846-1G>C rs146563928 0.00193
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000899.5(KITLG):c.177C>T (p.Pro59=) rs61924705 0.00192
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_144991.3(TSPEAR):c.337G>A (p.Glu113Lys) rs144166142 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001031679.3(MSRB3):c.292+11A>G rs200096451 0.00191
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482 0.00191
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_016239.4(MYO15A):c.8811C>T (p.His2937=) rs200583193 0.00190
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00190
NM_170682.4(P2RX2):c.831G>A (p.Ser277=) rs114365804 0.00190
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_000414.4(HSD17B4):c.281-7A>G rs35201279 0.00189
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) rs202125813 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_002471.4(MYH6):c.4320T>A (p.Ala1440=) rs145566711 0.00189
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_198488.5(FAM83H):c.601C>T (p.Gln201Ter) rs189033490 0.00189
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967 0.00188
NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His) rs117315845 0.00188
NM_003803.4(MYOM1):c.2727G>A (p.Pro909=) rs72860212 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_006393.3(NEBL):c.1869+8C>G rs188529864 0.00188
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00187
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_001378609.3(OTOGL):c.1395-12A>G rs138572593 0.00187
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710 0.00187
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_001018116.2(CAVIN4):c.57G>A (p.Ser19=) rs141589872 0.00186
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_170682.4(P2RX2):c.774+7C>G rs199743808 0.00186
NM_194248.3(OTOF):c.4800-11C>T rs41286009 0.00186
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) rs182126530 0.00185
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu) rs143251588 0.00185
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845 0.00185
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_005548.3(KARS1):c.170A>G (p.Asn57Ser) rs117041419 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_014391.3(ANKRD1):c.208-15G>A rs116511484 0.00184
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_000218.3(KCNQ1):c.386+16242G>A rs116103203 0.00183
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr) rs146935076 0.00183
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459 0.00183
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) rs144022614 0.00183
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757 0.00182
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) rs569520095 0.00181
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_016929.5(CLIC5):c.508G>C (p.Gly170Arg) rs114149334 0.00181
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val) rs397516635 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) rs149969431 0.00180
NM_021167.5(GATAD1):c.176G>C (p.Gly59Ala) rs531449433 0.00180
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00180
NM_133261.3(GIPC3):c.132G>C (p.Ala44=) rs80060313 0.00180
NM_144991.3(TSPEAR):c.304-12C>T rs192955018 0.00180
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val) rs150107590 0.00180
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser) rs140666247 0.00179
NM_001292063.2(OTOG):c.3618C>T (p.Ser1206=) rs143393149 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_022124.6(CDH23):c.4210-14A>C rs149441656 0.00179
NM_030662.4(MAP2K2):c.303+11C>T rs200405512 0.00179
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_001039213.4(CEACAM16):c.95G>T (p.Ser32Ile) rs186687142 0.00178
NM_001039213.4(CEACAM16):c.96C>T (p.Ser32=) rs191552868 0.00178
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00178
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=) rs114736976 0.00178
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro) rs76657474 0.00178
NM_002458.3(MUC5B):c.15560G>A (p.Arg5187His) rs201530874 0.00178
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459 0.00178
NM_080680.3(COL11A2):c.1774-9C>T rs148243956 0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_001378609.3(OTOGL):c.6283A>G (p.Ile2095Val) rs149249642 0.00177
NM_006073.4(TRDN):c.793+61T>C rs572614305 0.00177
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310 0.00176
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00176
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) rs140949805 0.00176
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_001318895.3(FHL2):c.109G>T (p.Ala37Ser) rs74575749 0.00175
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_004985.5(KRAS):c.451-5617A>G rs4362222 0.00175
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_005450.6(NOG):c.275G>A (p.Gly92Glu) rs199566527 0.00175
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_181458.4(PAX3):c.586+57A>G rs202175449 0.00175
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) rs3734292 0.00174
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=) rs111750275 0.00173
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_004985.5(KRAS):c.-48G>A rs532564755 0.00173
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001039141.3(TRIOBP):c.5886A>G (p.Pro1962=) rs372220018 0.00171
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu) rs114146378 0.00170
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_005419.4(STAT2):c.759C>T (p.His253=) rs147605088 0.00169
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala) rs139915181 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr) rs142372794 0.00168
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln) rs143495342 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_007078.3(LDB3):c.954C>T (p.Pro318=) rs45603139 0.00168
NM_015340.4(LARS2):c.235-12G>A rs75240042 0.00168
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His) rs200623501 0.00168
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser) rs114204766 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478 0.00168
NM_022114.4(PRDM16):c.1188T>C (p.Cys396=) rs201309284 0.00167
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val) rs150631721 0.00166
NM_001292063.2(OTOG):c.1285C>T (p.Arg429Trp) rs199968574 0.00166
NM_003803.4(MYOM1):c.3572A>G (p.Asn1191Ser) rs200480164 0.00166
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala) rs373913240 0.00165
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu) rs142620954 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_194248.3(OTOF):c.4980C>T (p.Asp1660=) rs149549554 0.00164
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107 0.00163
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214 0.00163
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_170682.4(P2RX2):c.211G>A (p.Glu71Lys) rs143664462 0.00163
NM_178335.3(CCDC50):c.1203A>G (p.Lys401=) rs146511344 0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val) rs61760172 0.00161
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001369.3(DNAH5):c.1321-15T>C rs202081804 0.00160
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val) rs143072070 0.00159
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) rs201200682 0.00159
NM_001330691.3(CEP78):c.1626-6dup rs542161202 0.00159
NM_001378609.3(OTOGL):c.1957T>G (p.Cys653Gly) rs200364230 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile) rs150395260 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_001330691.3(CEP78):c.898T>C (p.Ser300Pro) rs72743760 0.00158
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001370.2(DNAH6):c.10233C>G (p.Pro3411=) rs72832550 0.00158
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_003672.4(CDC14A):c.822C>T (p.Ile274=) rs74667145 0.00158
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_001039141.3(TRIOBP):c.3954C>T (p.Ser1318=) rs200990219 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629 0.00157
NM_015340.4(LARS2):c.255C>T (p.Tyr85=) rs114881088 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His) rs35555631 0.00156
NM_001267550.2(TTN):c.30598+15C>T rs79685525 0.00156
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_004985.5(KRAS):c.-122C>T rs61759617 0.00155
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058 0.00155
NM_172245.4(CSF2RA):c.279A>G (p.Thr93=) rs140581875 0.00155
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) rs138037294 0.00155
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524 0.00154
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_144991.3(TSPEAR):c.900C>T (p.Asn300=) rs139106120 0.00154
NM_000395.3(CSF2RB):c.1464+15C>T rs186445757 0.00153
NM_001032283.3(TMPO):c.87C>T (p.Ala29=) rs114074541 0.00153
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001145809.2(MYH14):c.5127+10G>A rs370928889 0.00153
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_003803.4(MYOM1):c.1803C>T (p.Pro601=) rs371861150 0.00153
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys) rs199809248 0.00153
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218 0.00153
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=) rs139493914 0.00153
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_003280.3(TNNC1):c.203-5C>T rs142519988 0.00151
NM_006005.3(WFS1):c.1491C>T (p.Val497=) rs148310584 0.00151
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly) rs182332665 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270 0.00151
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val) rs201323940 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=) rs77562287 0.00150
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) rs111033492 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_003803.4(MYOM1):c.4776C>G (p.Leu1592=) rs1143658 0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) rs369083434 0.00149
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=) rs146696080 0.00148
NM_001363118.2(SLC52A2):c.643C>T (p.Leu215=) rs147954962 0.00148
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_144991.3(TSPEAR):c.542+14C>T rs200116408 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001103.4(ACTN2):c.1515+15C>T rs368107695 0.00147
NM_001267550.2(TTN):c.11254+2T>C rs199565715 0.00147
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp) rs144030074 0.00147
NM_002458.3(MUC5B):c.8709G>A (p.Ala2903=) rs371299435 0.00147
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800 0.00147
NM_144991.3(TSPEAR):c.1566+5G>A rs117034581 0.00147
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000218.3(KCNQ1):c.1032+11C>T rs201144841 0.00146
NM_001035.3(RYR2):c.309+7C>T rs377710043 0.00146
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_002458.3(MUC5B):c.1497C>T (p.Gly499=) rs377351415 0.00146
NM_005422.4(TECTA):c.625-4G>T rs142007879 0.00146
NM_006284.4(TAF10):c.*1210C>T rs145172848 0.00146
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg) rs148701985 0.00146
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892 0.00146
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_001038.6(SCNN1A):c.416+3C>T rs181894737 0.00145
NM_001039876.3(SYNE4):c.96C>T (p.Thr32=) rs138787817 0.00145
NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr) rs61753157 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=) rs147250093 0.00145
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=) rs115742584 0.00145
NM_004817.4(TJP2):c.61-6A>T rs200415824 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460 0.00144
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=) rs112874177 0.00143
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_001010892.3(RSPH4A):c.1662+15C>T rs183372450 0.00141
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_024422.6(DSC2):c.-408T>C rs188926948 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00141
NM_144672.4(OTOA):c.2417A>C (p.Tyr806Ser) rs464691 0.00141
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser) rs534942001 0.00140
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_020297.4(ABCC9):c.924T>C (p.Asp308=) rs139127928 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_003803.4(MYOM1):c.117C>T (p.Tyr39=) rs375113650 0.00139
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) rs140140417 0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_001144950.2(SSC5D):c.3930C>T (p.Thr1310=) rs754825722 0.00138
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00138
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_021116.4(ADCY1):c.2694C>T (p.Asn898=) rs61735492 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_031475.3(ESPN):c.1950C>T (p.Gly650=) rs116163286 0.00138
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714 0.00137
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219 0.00137
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523 0.00137
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) rs114917863 0.00137
NM_001267550.2(TTN):c.48460+8C>T rs2288565 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly) rs143477571 0.00137
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=) rs188634763 0.00137
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser) rs202211640 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) rs113350364 0.00136
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser) rs76420383 0.00136
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) rs145506099 0.00136
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_006393.3(NEBL):c.2685C>T (p.Asp895=) rs140245727 0.00135
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491 0.00135
NM_153700.2(STRC):c.5179G>C (p.Glu1727Gln) rs141749062 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001145809.2(MYH14):c.4094G>A (p.Ser1365Asn) rs202225655 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_001292063.2(OTOG):c.7353A>C (p.Gln2451His) rs145833172 0.00134
NM_001378609.3(OTOGL):c.4906G>A (p.Glu1636Lys) rs143817729 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285 0.00134
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647 0.00134
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00133
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly) rs202059880 0.00133
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_003002.4(SDHD):c.*822T>C rs201472512 0.00133
NM_005422.4(TECTA):c.2418G>A (p.Leu806=) rs138185038 0.00133
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr) rs77729067 0.00132
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933 0.00132
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val) rs143930021 0.00132
NM_016239.4(MYO15A):c.4655+11G>A rs117021471 0.00132
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106 0.00131
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) rs578191491 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_022114.4(PRDM16):c.1426C>T (p.Pro476Ser) rs188908415 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=) rs182425565 0.00130
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=) rs200068167 0.00130
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=) rs142823394 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001039141.3(TRIOBP):c.5224C>T (p.Leu1742Phe) rs200493962 0.00129
NM_001039141.3(TRIOBP):c.5378A>C (p.Glu1793Ala) rs147273930 0.00129
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00129
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00129
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile) rs150016894 0.00129
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser) rs142006633 0.00128
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_001330691.3(CEP78):c.103C>T (p.Arg35Cys) rs200483715 0.00128
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg) rs200243235 0.00128
NM_144573.4(NEXN):c.156C>T (p.Asp52=) rs371431782 0.00128
NM_144991.3(TSPEAR):c.1566+12C>T rs199557392 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr) rs548278514 0.00127
NM_001378609.3(OTOGL):c.93A>G (p.Ala31=) rs147902353 0.00127
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680 0.00127
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) rs142977481 0.00126
NM_001038603.3(MARVELD2):c.615C>T (p.Ala205=) rs146796266 0.00126
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001199107.2(TBC1D24):c.-7C>T rs199852092 0.00126
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu) rs199855270 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_017433.5(MYO3A):c.4439-12C>T rs201689300 0.00126
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile) rs138339125 0.00126
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_005379.4(MYO1A):c.682C>G (p.Leu228Val) rs137975387 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu) rs200897149 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_000503.6(EYA1):c.744G>A (p.Thr248=) rs10098224 0.00124
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001114753.3(ENG):c.732C>T (p.Pro244=) rs112262663 0.00124
NM_001267550.2(TTN):c.10726A>G (p.Thr3576Ala) rs6433728 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_001379180.1(ESRRB):c.1120+11C>T rs116803435 0.00124
NM_004006.3(DMD):c.5265C>T (p.Pro1755=) rs145515413 0.00124
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_004985.5(KRAS):c.-160A>G rs727503111 0.00124
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_005992.1(TBX1):c.1010-3495C>T rs72646973 0.00124
NM_006393.3(NEBL):c.624C>T (p.Pro208=) rs111854914 0.00124
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_022124.6(CDH23):c.5067+15G>A rs367928867 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_133379.5(TTN):c.10411G>A (p.Ala3471Thr) rs149878929 0.00124
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg) rs200770543 0.00124
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=) rs113459040 0.00123
NM_001039141.3(TRIOBP):c.5380-14C>T rs182214887 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys) rs72647862 0.00123
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_005422.4(TECTA):c.2123A>G (p.Lys708Arg) rs144932466 0.00123
NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val) rs147354818 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) rs141475629 0.00123
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=) rs375102725 0.00123
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr) rs189893797 0.00122
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036 0.00122
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=) rs371819104 0.00122
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His) rs185432248 0.00122
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_033380.3(COL4A5):c.909T>C (p.Asp303=) rs144586397 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro) rs111748421 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001378609.3(OTOGL):c.3513C>T (p.Gly1171=) rs145834039 0.00121
NM_001378609.3(OTOGL):c.519G>A (p.Ser173=) rs181528168 0.00121
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu) rs200050988 0.00121
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_002473.6(MYH9):c.1176G>A (p.Pro392=) rs143316848 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr) rs140301218 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00121
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436 0.00121
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324 0.00120
NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=) rs34716166 0.00120
NM_001199799.2(ILDR1):c.1305C>A (p.Ser435Arg) rs35597690 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_002471.4(MYH6):c.*8T>C rs201560522 0.00120
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600 0.00120
NM_022124.6(CDH23):c.2954-15C>T rs376377077 0.00120
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_203447.4(DOCK8):c.3826G>T (p.Val1276Leu) rs148796842 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001035.3(RYR2):c.726C>T (p.Asp242=) rs76380341 0.00119
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_001292063.2(OTOG):c.2561+9C>T rs528157125 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002473.6(MYH9):c.1158C>T (p.Thr386=) rs138502859 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_003672.4(CDC14A):c.192C>T (p.Cys64=) rs201731089 0.00118
NM_016239.4(MYO15A):c.7908C>T (p.Ala2636=) rs201535856 0.00118
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met) rs149333409 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_198999.3(SLC26A5):c.78G>A (p.Pro26=) rs141436712 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=) rs147668465 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu) rs147195954 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065 0.00116
NM_003803.4(MYOM1):c.1952G>A (p.Arg651Gln) rs184721031 0.00116
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=) rs144657938 0.00115
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu) rs200187681 0.00115
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936 0.00114
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_002473.6(MYH9):c.705+11C>T rs201738304 0.00114
NM_004568.6(SERPINB6):c.708C>T (p.Asp236=) rs144895010 0.00114
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_000260.4(MYO7A):c.2587-14C>T rs180774455 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_001039876.3(SYNE4):c.257C>T (p.Pro86Leu) rs200630302 0.00113
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_020297.4(ABCC9):c.798T>C (p.Asp266=) rs138356189 0.00113
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850 0.00113
NM_144573.4(NEXN):c.1618A>G (p.Met540Val) rs201390657 0.00113
NM_194248.3(OTOF):c.3734-13T>C rs368329882 0.00113
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860 0.00112
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg) rs142931455 0.00112
NM_002473.6(MYH9):c.2448C>T (p.Cys816=) rs113285582 0.00112
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_144672.4(OTOA):c.2431+11T>C rs463192 0.00112
NM_153676.4(USH1C):c.2184+12C>T rs138547759 0.00112
NM_206933.4(USH2A):c.2094C>T (p.Thr698=) rs141489104 0.00112
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_001366385.1(CARD14):c.2691+15G>A rs200394665 0.00111
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu) rs183159689 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_014476.6(PDLIM3):c.387G>A (p.Pro129=) rs138670107 0.00111
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255 0.00111
NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser) rs199695398 0.00111
NM_017433.5(MYO3A):c.1566A>C (p.Gly522=) rs139121564 0.00111
NM_022124.6(CDH23):c.6275C>T (p.Thr2092Ile) rs145868749 0.00111
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888 0.00110
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) rs145929269 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_004086.3(COCH):c.629+5C>T rs202109231 0.00110
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553 0.00110
NM_006941.4(SOX10):c.72C>T (p.Ser24=) rs763019569 0.00110
NM_016239.4(MYO15A):c.9691-3C>A rs142996507 0.00110
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys) rs764467903 0.00110
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_001292063.2(OTOG):c.6907C>T (p.Arg2303Cys) rs568549806 0.00109
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00109
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188 0.00108
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524 0.00108
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434 0.00108
NM_001267550.2(TTN):c.16055-9A>C rs368897883 0.00108
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_002471.4(MYH6):c.2430-14C>T rs190342289 0.00108
NM_003476.5(CSRP3):c.*12G>A rs45607943 0.00108
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_004568.6(SERPINB6):c.457G>A (p.Gly153Ser) rs2295766 0.00108
NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=) rs876657451 0.00108
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=) rs372846962 0.00108
NM_057176.3(BSND):c.177+15G>C rs193020037 0.00108
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00107
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001145809.2(MYH14):c.4417G>A (p.Val1473Met) rs112716976 0.00107
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066 0.00107
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00107
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_000787.4(DBH):c.339+2T>C rs74853476 0.00106
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001378609.3(OTOGL):c.2550C>T (p.Phe850=) rs77835094 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 0.00106
NM_006005.3(WFS1):c.96G>A (p.Ser32=) rs71539660 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000432.4(MYL2):c.4-14del rs531661702 0.00105
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286 0.00105
NM_001039213.4(CEACAM16):c.508G>A (p.Ala170Thr) rs200297676 0.00105
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=) rs145203578 0.00105
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) rs200875379 0.00105
NM_001372106.1(DNAH10):c.9848C>T (p.Thr3283Met) rs191384577 0.00105
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_022124.6(CDH23):c.2865C>T (p.Arg955=) rs79636933 0.00105
NM_032229.3(SLITRK6):c.592T>C (p.Leu198=) rs80087848 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001035.3(RYR2):c.1135G>A (p.Val379Met) rs199693714 0.00104
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001378609.3(OTOGL):c.1159+14T>C rs199674686 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_017433.5(MYO3A):c.1500G>A (p.Ala500=) rs146797033 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_198999.3(SLC26A5):c.1233+14A>G rs191459658 0.00104
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_001035.3(RYR2):c.1296C>A (p.Gly432=) rs184176405 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598 0.00103
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=) rs61734252 0.00103
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278 0.00103
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) rs150841154 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_004700.4(KCNQ4):c.1818C>G (p.Asp606Glu) rs139835231 0.00103
NM_004700.4(KCNQ4):c.1986C>G (p.Pro662=) rs191631836 0.00103
NM_005379.4(MYO1A):c.2341A>G (p.Lys781Glu) rs144384395 0.00103
NM_005422.4(TECTA):c.4788C>T (p.Ile1596=) rs150561147 0.00103
NM_016929.5(CLIC5):c.515G>A (p.Arg172Gln) rs145681060 0.00103
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=) rs376917681 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_006785.4(MALT1):c.-35G>A rs545006385 0.00102
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr) rs144209883 0.00102
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln) rs147967199 0.00102
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys) rs149165620 0.00101
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=) rs146200756 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_022124.6(CDH23):c.4287C>T (p.Pro1429=) rs377493327 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_032578.4(MYPN):c.1122G>A (p.Glu374=) rs145103325 0.00101
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_001292063.2(OTOG):c.1286G>A (p.Arg429Gln) rs528799547 0.00100
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859 0.00100
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206 0.00100
NM_004568.6(SERPINB6):c.1095C>T (p.Asn365=) rs145397970 0.00100
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His) rs138846756 0.00099
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_015404.4(WHRN):c.234G>A (p.Leu78=) rs148785227 0.00099
NM_015404.4(WHRN):c.75C>T (p.Gly25=) rs771128098 0.00099
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn) rs201737186 0.00099
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_021167.5(GATAD1):c.96T>G (p.His32Gln) rs532003876 0.00099
NM_032578.4(MYPN):c.465C>G (p.Ala155=) rs142867001 0.00099
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474 0.00099
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674 0.00099
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_001031679.3(MSRB3):c.-139C>A rs182726780 0.00098
NM_001032283.3(TMPO):c.565+2224A>G rs34983516 0.00098
NM_001145809.2(MYH14):c.1275C>T (p.Thr425=) rs149221129 0.00098
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) rs113570783 0.00098
NM_001199799.2(ILDR1):c.225A>G (p.Ser75=) rs146402126 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001378609.3(OTOGL):c.4199+10G>A rs149452803 0.00098
NM_001378609.3(OTOGL):c.5617C>A (p.Pro1873Thr) rs141867785 0.00098
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=) rs76946640 0.00098
NM_002458.3(MUC5B):c.16273G>A (p.Gly5425Arg) rs201746407 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_006073.4(TRDN):c.932-4C>G rs77768246 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_001039141.3(TRIOBP):c.4099C>T (p.Arg1367Trp) rs191589773 0.00097
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_003803.4(MYOM1):c.1112-11T>C rs59555146 0.00097
NM_004004.6(GJB2):c.-174C>G rs541058463 0.00097
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00097
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_153702.4(ELMOD2):c.399+4A>C rs149594258 0.00097
NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg) rs142844880 0.00097
NM_206933.4(USH2A):c.3158-7A>G rs201558076 0.00097
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000260.4(MYO7A):c.5259G>A (p.Lys1753=) rs370062187 0.00096
NM_000503.6(EYA1):c.1199+13G>T rs200345478 0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915 0.00096
NM_001378609.3(OTOGL):c.6626C>T (p.Thr2209Ile) rs146572555 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_006012.4(CLPP):c.399C>T (p.Tyr133=) rs140025832 0.00096
NM_006016.6(CD164):c.575G>A (p.Arg192Gln) rs62436104 0.00096
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435 0.00096
NM_016239.4(MYO15A):c.1387A>G (p.Met463Val) rs201794569 0.00096
NM_017837.4(PIGV):c.348G>A (p.Leu116=) rs148662665 0.00096
NM_018139.3(DNAAF2):c.1077C>G (p.Val359=) rs765764624 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00096
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly) rs145142157 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001039876.3(SYNE4):c.7C>T (p.Leu3=) rs373148223 0.00095
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_002471.4(MYH6):c.3303G>A (p.Val1101=) rs143825034 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_017433.5(MYO3A):c.585+4A>T rs202189844 0.00095
NM_022124.6(CDH23):c.7660+13C>T rs374011250 0.00095
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) rs149941106 0.00095
NM_000548.5(TSC2):c.5161-9C>T rs45515893 0.00094
NM_001031679.3(MSRB3):c.114T>C (p.Phe38=) rs114599476 0.00094
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001267550.2(TTN):c.101936C>G (p.Pro33979Arg) rs200238877 0.00094
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_006005.3(WFS1):c.1321G>A (p.Val441Met) rs150894674 0.00094
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_133261.3(GIPC3):c.906C>T (p.Ala302=) rs140960269 0.00094
NM_133379.5(TTN):c.14489A>G (p.Gln4830Arg) rs144905085 0.00094
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00093
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met) rs145527033 0.00093
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=) rs201069672 0.00093
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=) rs371612136 0.00093
NM_001318895.3(FHL2):c.85G>A (p.Val29Met) rs56284940 0.00093
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_002003.5(FCN1):c.802T>C (p.Ser268Pro) rs150625869 0.00093
NM_003672.4(CDC14A):c.457-6T>C rs202211124 0.00093
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr) rs148735953 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_032578.4(MYPN):c.734C>G (p.Ala245Gly) rs143574079 0.00093
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp) rs140542643 0.00093
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile) rs148164929 0.00092
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_002471.4(MYH6):c.1083G>T (p.Gly361=) rs138928022 0.00092
NM_003476.4(CSRP3):c.-74A>C rs45498797 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_022124.6(CDH23):c.4488+7C>T rs374215303 0.00092
NM_032119.4(ADGRV1):c.8172C>T (p.Phe2724=) rs371019516 0.00092
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) rs75813654 0.00091
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355 0.00091
NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=) rs201843208 0.00091
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) rs147695488 0.00091
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00091
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001378609.3(OTOGL):c.4280-5T>C rs200889330 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.25351+13C>G rs138362885 0.00090
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=) rs111588500 0.00090
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002471.4(MYH6):c.3297G>A (p.Glu1099=) rs144957142 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_144991.3(TSPEAR):c.714G>A (p.Ala238=) rs146025689 0.00090
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638 0.00089
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_002458.3(MUC5B):c.12581G>C (p.Ser4194Thr) rs201822010 0.00089
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707 0.00089
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr) rs140064945 0.00089
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr) rs75123867 0.00089
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491 0.00088
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) rs139790668 0.00088
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=) rs193191368 0.00088
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001372106.1(DNAH10):c.901G>A (p.Ala301Thr) rs145614363 0.00088
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser) rs192944055 0.00088
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00088
NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg) rs201576880 0.00088
NM_002471.4(MYH6):c.3978+8C>T rs367866050 0.00088
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195 0.00088
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_002473.6(MYH9):c.615C>T (p.Gly205=) rs139466141 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_004999.4(MYO6):c.2175A>G (p.Lys725=) rs116571790 0.00088
NM_007078.3(LDB3):c.295C>T (p.Pro99Ser) rs201693259 0.00088
NM_022114.4(PRDM16):c.1134C>G (p.Ser378=) rs200169663 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_144573.4(NEXN):c.1252-10T>G rs201019553 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=) rs146746360 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578 0.00087
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_001378373.1(MBL2):c.132C>T (p.Asn44=) rs34120190 0.00087
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu) rs369865672 0.00087
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) rs564053026 0.00087
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267 0.00086
NM_001039213.4(CEACAM16):c.519C>T (p.Val173=) rs114645388 0.00086
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001145809.2(MYH14):c.1992G>A (p.Pro664=) rs192745436 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) rs147419066 0.00086
NM_003764.4(STX11):c.616G>A (p.Glu206Lys) rs145347140 0.00086
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) rs71530906 0.00086
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) rs183851734 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_004700.4(KCNQ4):c.972G>A (p.Leu324=) rs137896524 0.00085
NM_016599.5(MYOZ2):c.360A>G (p.Pro120=) rs117556704 0.00085
NM_017433.5(MYO3A):c.177C>T (p.Asp59=) rs139958275 0.00085
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser) rs150549897 0.00085
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_001018116.2(CAVIN4):c.692G>A (p.Arg231Lys) rs114540433 0.00084
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470 0.00084
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser) rs142977595 0.00084
NM_001145809.2(MYH14):c.5991G>A (p.Thr1997=) rs181567755 0.00084
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_001330691.3(CEP78):c.1194A>G (p.Ala398=) rs138501486 0.00084
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702 0.00084
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_022114.4(PRDM16):c.429C>T (p.Cys143=) rs150097149 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001032283.3(TMPO):c.1119G>A (p.Arg373=) rs144913822 0.00083
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347 0.00083
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) rs200445568 0.00083
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg) rs140201636 0.00083
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_001384474.1(LOXHD1):c.5692+12G>A rs200518261 0.00083
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) rs138436678 0.00083
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_005379.4(MYO1A):c.2406C>T (p.Asp802=) rs150587673 0.00083
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=) rs3758442 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_022124.6(CDH23):c.7463G>A (p.Arg2488His) rs148149598 0.00083
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_032119.4(ADGRV1):c.18803-13A>G rs41305902 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=) rs139647701 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=) rs145129529 0.00082
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_006005.3(WFS1):c.631+12C>T rs183980454 0.00082
NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile) rs149544995 0.00082
NM_080680.3(COL11A2):c.4015-8T>C rs377001136 0.00082
NM_178335.3(CCDC50):c.626C>T (p.Ser209Leu) rs115771997 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001130987.2(DYSF):c.3756+9G>T rs191746041 0.00081
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224 0.00081
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) rs200049911 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu) rs185011953 0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_002473.6(MYH9):c.*8C>T rs201455315 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361 0.00081
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val) rs145538358 0.00081
NM_005548.3(KARS1):c.612A>G (p.Thr204=) rs141539149 0.00081
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser) rs199998420 0.00081
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) rs115143295 0.00081
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala) rs377674360 0.00081
NM_181458.4(PAX3):c.982G>A (p.Val328Ile) rs149799356 0.00081
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=) rs150286388 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_001039876.3(SYNE4):c.1020G>A (p.Glu340=) rs186898202 0.00080
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_001378609.3(OTOGL):c.3020T>C (p.Val1007Ala) rs202051419 0.00080
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) rs114115159 0.00080
NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro) rs150167906 0.00080
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_007373.4(SHOC2):c.-179T>A rs143180451 0.00080
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00080
NM_153676.4(USH1C):c.2184+10T>C rs200889109 0.00080
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_173477.5(USH1G):c.705G>A (p.Glu235=) rs149002004 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491 0.00079
NM_001018005.2(TPM1):c.115-262C>T rs74573041 0.00079
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558 0.00079
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His) rs139375212 0.00079
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919 0.00079
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486 0.00079
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109 0.00078
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996 0.00078
NM_001006630.2(CHRM2):c.1114C>G (p.Pro372Ala) rs138806839 0.00078
NM_001042702.5(PJVK):c.766+8T>C rs185220846 0.00078
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819 0.00078
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_001267550.2(TTN):c.54812-5A>G rs375343798 0.00078
NM_001267550.2(TTN):c.98683+7G>C rs141150066 0.00078
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His) rs191802172 0.00078
NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile) rs569603083 0.00078
NM_001363118.2(SLC52A2):c.1066C>T (p.Leu356=) rs138107380 0.00078
NM_001371333.1(DIABLO):c.8C>G (p.Ala3Gly) rs202028496 0.00078
NM_002473.6(MYH9):c.1843+14C>A rs372865551 0.00078
NM_017433.5(MYO3A):c.2133G>A (p.Leu711=) rs56147819 0.00078
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) rs200946170 0.00078
NM_032119.4(ADGRV1):c.10952A>G (p.Tyr3651Cys) rs200106260 0.00078
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356 0.00078
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000258.3(MYL3):c.559+6C>T rs199474709 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_001371333.1(DIABLO):c.546C>T (p.Thr182=) rs149387774 0.00077
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_016239.4(MYO15A):c.969G>A (p.Ser323=) rs371387378 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_144573.4(NEXN):c.777A>G (p.Gln259=) rs375544798 0.00077
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00076
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) rs121912502 0.00076
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000371.4(TTR):c.*3_*11del rs143948820 0.00076
NM_000432.4(MYL2):c.36C>T (p.Gly12=) rs139794370 0.00076
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001127453.2(GSDME):c.864G>A (p.Ala288=) rs144358787 0.00076
NM_001144950.2(SSC5D):c.3931C>G (p.Pro1311Ala) rs778514407 0.00076
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 0.00076
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299 0.00076
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met) rs148551876 0.00076
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_003803.4(MYOM1):c.5019C>T (p.Ala1673=) rs199980922 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr) rs373294263 0.00076
NM_024915.4(GRHL2):c.804C>T (p.Thr268=) rs55682875 0.00076
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) rs201236317 0.00076
NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu) rs138583865 0.00076
NM_144991.3(TSPEAR):c.1515G>A (p.Ser505=) rs150444121 0.00076
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_207034.3(EDN3):c.588+48C>T rs200659956 0.00076
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_001039213.4(CEACAM16):c.999C>T (p.Asp333=) rs200767877 0.00075
NM_001105206.3(LAMA4):c.297+8G>A rs200595773 0.00075
NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=) rs375866139 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu) rs117188693 0.00075
NM_014000.3(VCL):c.1348A>C (p.Arg450=) rs142128712 0.00075
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_022124.6(CDH23):c.4512C>G (p.Thr1504=) rs562273075 0.00075
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser) rs200111522 0.00075
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) rs138803855 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
NM_003280.3(TNNC1):c.201C>T (p.Asp67=) rs150881554 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile) rs61758992 0.00074
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436 0.00074
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00074
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00074
NM_133379.5(TTN):c.13859A>C (p.Gln4620Pro) rs139172299 0.00074
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_153676.4(USH1C):c.1632C>T (p.Asp544=) rs142545736 0.00074
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_001379180.1(ESRRB):c.414G>A (p.Val138=) rs141586518 0.00073
NM_001384140.1(PCDH15):c.1653G>A (p.Gly551=) rs141281651 0.00073
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_001384474.1(LOXHD1):c.2684C>G (p.Thr895Ser) rs115042043 0.00073
NM_002458.3(MUC5B):c.14584G>A (p.Gly4862Ser) rs191989562 0.00073
NM_002880.4(RAF1):c.-201C>A rs532668125 0.00073
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_005422.4(TECTA):c.2604G>T (p.Thr868=) rs139509847 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp) rs201028204 0.00073
NM_144991.3(TSPEAR):c.1107G>A (p.Thr369=) rs145868820 0.00073
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) rs138769870 0.00073
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile) rs145648026 0.00072
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_001292063.2(OTOG):c.3006+11G>A rs150247729 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn) rs112430701 0.00072
NM_017433.5(MYO3A):c.546G>T (p.Arg182=) rs148349532 0.00072
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044 0.00072
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955 0.00071
NM_000257.4(MYH7):c.2553C>A (p.Ser851=) rs144291282 0.00071
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) rs138804394 0.00071
NM_001039876.3(SYNE4):c.317A>C (p.Gln106Pro) rs200994810 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe) rs148781346 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523 0.00071
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00071
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=) rs200594132 0.00070
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072 0.00070
NM_001006630.2(CHRM2):c.1050A>G (p.Ser350=) rs60372903 0.00070
NM_001018005.2(TPM1):c.115-319C>G rs201720832 0.00070
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) rs139520402 0.00070
NM_001267550.2(TTN):c.30224-8T>G rs72650010 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val) rs56359117 0.00070
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001369.3(DNAH5):c.8224+15G>A rs148099176 0.00070
NM_001692.4(ATP6V1B1):c.688-7T>C rs193240706 0.00070
NM_002906.4(RDX):c.1468G>A (p.Asp490Asn) rs34471100 0.00070
NM_006073.4(TRDN):c.84C>T (p.Pro28=) rs145992727 0.00070
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln) rs200546031 0.00070
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=) rs145934142 0.00070
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788 0.00070
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085 0.00070
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_000363.5(TNNI3):c.25-4C>T rs202086705 0.00069
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255 0.00069
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_002458.3(MUC5B):c.14573T>C (p.Met4858Thr) rs201272490 0.00069
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=) rs146832858 0.00069
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129 0.00068
NM_001283009.2(RTEL1):c.1349-13C>T rs376698655 0.00068
NM_001283009.2(RTEL1):c.1349-14C>T rs373301404 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) rs145502954 0.00068
NM_001378609.3(OTOGL):c.3172A>G (p.Arg1058Gly) rs201186191 0.00068
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_005379.4(MYO1A):c.659G>A (p.Arg220Gln) rs114674819 0.00068
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967 0.00068
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln) rs146696590 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=) rs150237947 0.00067
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) rs144290224 0.00067
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001734.5(C1S):c.1284C>G (p.Pro428=) rs144851896 0.00067
NM_002458.3(MUC5B):c.17044G>A (p.Glu5682Lys) rs200719329 0.00067
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870 0.00067
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821 0.00067
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln) rs147088274 0.00067
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=) rs147037435 0.00067
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_001035.3(RYR2):c.14090+14C>T rs374425124 0.00066
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=) rs186972955 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001347886.2(DNAH3):c.1842T>C (p.Asp614=) rs144106056 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002458.3(MUC5B):c.3846C>T (p.Gly1282=) rs141821939 0.00066
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00066
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_002473.6(MYH9):c.591G>A (p.Ser197=) rs140241271 0.00066
NM_002923.4(RGS2):c.68G>A (p.Gly23Asp) rs148489044 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399 0.00066
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn) rs202084078 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088 0.00065
NM_001384140.1(PCDH15):c.4526A>G (p.Gln1509Arg) rs115559383 0.00065
NM_002471.4(MYH6):c.1779C>A (p.Gly593=) rs190996339 0.00065
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006393.3(NEBL):c.994G>A (p.Val332Ile) rs150518045 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=) rs201338158 0.00065
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272 0.00065
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613 0.00064
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229 0.00064
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_001006630.2(CHRM2):c.991A>T (p.Thr331Ser) rs146328962 0.00064
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_001039141.3(TRIOBP):c.5767G>A (p.Ala1923Thr) rs150947392 0.00064
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_001384474.1(LOXHD1):c.1162A>G (p.Ile388Val) rs115395163 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_003803.4(MYOM1):c.5001G>A (p.Glu1667=) rs376007739 0.00064
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) rs114875104 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser) rs144918959 0.00064
NM_153700.2(STRC):c.4399G>A (p.Val1467Ile) rs147447264 0.00064
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878 0.00064
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040 0.00063
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala) rs200529550 0.00063
NM_001146079.2(CLDN14):c.471G>A (p.Lys157=) rs146860442 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn) rs112009206 0.00063
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226 0.00063
NM_001292063.2(OTOG):c.879C>T (p.Asp293=) rs144220847 0.00063
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=) rs145486636 0.00063
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) rs144783536 0.00063
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val) rs199740747 0.00063
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) rs146245515 0.00063
NM_017950.4(CCDC40):c.51G>A (p.Ser17=) rs141650385 0.00063
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His) rs145632008 0.00063
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) rs185105210 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_032578.4(MYPN):c.2703+13G>A rs375320760 0.00063
NM_033360.4(KRAS):c.-48_-29dup rs730880342 0.00063
NM_147196.3(TMIE):c.40G>A (p.Gly14Ser) rs397517869 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_001145809.2(MYH14):c.2680C>A (p.Arg894=) rs34805056 0.00062
NM_001145809.2(MYH14):c.5683C>T (p.Arg1895Cys) rs200485394 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr) rs2234933 0.00062
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln) rs150095081 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714 0.00062
NM_016239.4(MYO15A):c.5532-10C>T rs200169924 0.00062
NM_020297.4(ABCC9):c.2199-13G>A rs201226082 0.00062
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) rs200435877 0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001039141.3(TRIOBP):c.5166C>G (p.Asp1722Glu) rs183189469 0.00061
NM_001164375.3(C10orf105):c.*3111C>T rs187975106 0.00061
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) rs150917752 0.00061
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=) rs370036981 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg) rs146362213 0.00061
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser) rs368261417 0.00061
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp) rs141562079 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_018139.3(DNAAF2):c.423C>T (p.Val141=) rs373251065 0.00061
NM_022124.6(CDH23):c.9198+13C>T rs375384238 0.00061
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) rs150426464 0.00061
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_153676.4(USH1C):c.1086-13G>T rs200490320 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806 0.00061
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.196-15G>C rs371906362 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_016366.3(CABP2):c.638-10G>A rs188811948 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met) rs200848641 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216 0.00059
NM_001378.3(DYNC1I2):c.512-16T>G rs3821091 0.00059
NM_001378609.3(OTOGL):c.1441+10T>A rs367996419 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_024915.4(GRHL2):c.689G>A (p.Ser230Asn) rs140423160 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_133261.3(GIPC3):c.207C>T (p.Phe69=) rs727504653 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_138691.3(TMC1):c.1566+8C>T rs202184917 0.00059
NM_139281.3(WDR36):c.208G>A (p.Asp70Asn) rs115541547 0.00059
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001379180.1(ESRRB):c.765G>A (p.Glu255=) rs79273904 0.00058
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) rs117826071 0.00058
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726 0.00058
NM_022114.4(PRDM16):c.38-14G>A rs368409902 0.00058
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000379.4(XDH):c.1686+1G>C rs148412639 0.00057
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala) rs202176504 0.00057
NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu) rs115649165 0.00057
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser) rs375308440 0.00057
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His) rs139179263 0.00057
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=) rs373587801 0.00056
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn) rs201567815 0.00056
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser) rs199891245 0.00056
NM_001354604.2(MITF):c.104+24226G>A rs373660547 0.00056
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser) rs144038082 0.00056
NM_015340.4(LARS2):c.1989G>T (p.Arg663=) rs139111439 0.00056
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_022124.6(CDH23):c.1514+13C>T rs376369708 0.00056
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517 0.00055
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) rs72646849 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_002473.6(MYH9):c.3216G>A (p.Ala1072=) rs139441456 0.00055
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606 0.00055
NM_004281.4(BAG3):c.870C>G (p.Pro290=) rs140737221 0.00055
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_022124.6(CDH23):c.1752+6G>A rs369013539 0.00055
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201 0.00054
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_000257.4(MYH7):c.3777C>T (p.His1259=) rs149103761 0.00054
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 0.00054
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=) rs727505358 0.00054
NM_002473.6(MYH9):c.1566G>A (p.Pro522=) rs145517108 0.00054
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690 0.00054
NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr) rs140623300 0.00054
NM_003803.4(MYOM1):c.2064G>A (p.Thr688=) rs374462999 0.00054
NM_005379.4(MYO1A):c.376G>A (p.Glu126Lys) rs151045364 0.00054
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_006393.3(NEBL):c.1008+8C>G rs376842299 0.00054
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr) rs201968775 0.00054
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535 0.00054
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser) rs727504512 0.00054
NM_016239.4(MYO15A):c.7473+10G>T rs181355572 0.00054
NM_016366.3(CABP2):c.379+11C>T rs147530804 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_022124.6(CDH23):c.5821-13C>T rs117317626 0.00054
NM_030662.4(MAP2K2):c.303+8C>G rs199612401 0.00054
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys) rs147011199 0.00054
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_173628.4(DNAH17):c.5217G>A (p.Thr1739=) rs376047406 0.00054
NM_182548.4(LHFPL5):c.615G>C (p.Lys205Asn) rs149081163 0.00054
NM_206933.4(USH2A):c.7301-6C>T rs375499259 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000601.6(HGF):c.1891G>A (p.Val631Met) rs145494248 0.00053
NM_001005242.3(PKP2):c.1379-2054C>T rs144620127 0.00053
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser) rs138193709 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290 0.00053
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=) rs140749530 0.00053
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001292063.2(OTOG):c.1050C>T (p.His350=) rs575344158 0.00053
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648 0.00053
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser) rs121434431 0.00053
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014 0.00053
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu) rs147393144 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln) rs199696801 0.00052
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_005379.4(MYO1A):c.2302C>T (p.Arg768Trp) rs143613424 0.00052
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu) rs200121200 0.00052
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00052
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624 0.00051
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) rs370297602 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621 0.00051
NM_001195248.2(APTX):c.484-13del rs754565169 0.00051
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001256317.3(TMPRSS3):c.347T>C (p.Val116Ala) rs201007237 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.33827-8C>T rs371318311 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu) rs192788942 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg) rs72648228 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001292063.2(OTOG):c.2113A>G (p.Thr705Ala) rs562612507 0.00051
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser) rs543999548 0.00051
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met) rs542442173 0.00051
NM_001367479.1(DNAH14):c.7830T>C (p.Asp2610=) rs560792252 0.00051
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser) rs374634079 0.00051
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_003803.4(MYOM1):c.2656A>G (p.Ser886Gly) rs199900004 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr) rs148530934 0.00051
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val) rs146218038 0.00051
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr) rs147042608 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_015340.4(LARS2):c.2211T>C (p.Ser737=) rs371382425 0.00051
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439 0.00051
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_022114.4(PRDM16):c.142G>A (p.Val48Met) rs199968728 0.00051
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val) rs146497334 0.00051
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp) rs146522169 0.00051
NM_144991.3(TSPEAR):c.1698C>T (p.Tyr566=) rs62218852 0.00051
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met) rs148421362 0.00051
NM_153700.2(STRC):c.4432A>C (p.Thr1478Pro) rs148736697 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_206933.4(USH2A):c.785-16_785-15del rs150209313 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_001292063.2(OTOG):c.7935+11G>A rs188456860 0.00050
NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=) rs147229014 0.00050
NM_003803.4(MYOM1):c.590C>T (p.Thr197Met) rs142735495 0.00050
NM_005422.4(TECTA):c.1509C>T (p.Cys503=) rs61733565 0.00050
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu) rs145468090 0.00050
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000257.4(MYH7):c.2907C>T (p.His969=) rs142573531 0.00049
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001035.3(RYR2):c.9450-3T>C rs188671846 0.00049
NM_001105206.3(LAMA4):c.1668+9G>A rs201457182 0.00049
NM_001105206.3(LAMA4):c.4665+15G>A rs377415750 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001378609.3(OTOGL):c.119+7A>G rs753923439 0.00049
NM_001384140.1(PCDH15):c.4671+1046A>G rs201855435 0.00049
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_004230.4(S1PR2):c.923C>T (p.Pro308Leu) rs200973983 0.00049
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) rs149813580 0.00049
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile) rs201734915 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_020975.6(RET):c.-2C>A rs876657980 0.00049
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_206933.4(USH2A):c.8805C>T (p.Val2935=) rs111033534 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_000258.3(MYL3):c.482-14C>A rs201780962 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001103.4(ACTN2):c.1519A>G (p.Met507Val) rs144553482 0.00048
NM_001103.4(ACTN2):c.2367+8A>G rs112714025 0.00048
NM_001105206.3(LAMA4):c.*1C>T rs148811960 0.00048
NM_001128228.3(TPRN):c.1906C>T (p.Arg636Trp) rs145556855 0.00048
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) rs148223897 0.00048
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln) rs184153985 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly) rs72646822 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp) rs559512010 0.00048
NM_001292063.2(OTOG):c.7209C>T (p.Ser2403=) rs56236649 0.00048
NM_001292063.2(OTOG):c.8322C>T (p.Cys2774=) rs539684481 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_003068.5(SNAI2):c.365C>T (p.Ala122Val) rs181954619 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr) rs564747350 0.00048
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp) rs374664141 0.00048
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_032119.4(ADGRV1):c.15240T>C (p.Asn5080=) rs375911753 0.00048
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys) rs145499180 0.00048
NM_080680.3(COL11A2):c.2431-11G>A rs368695514 0.00048
NM_133261.3(GIPC3):c.*15G>A rs368944411 0.00048
NM_153700.2(STRC):c.4749G>T (p.Val1583=) rs770417511 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_194248.3(OTOF):c.1020C>T (p.Asp340=) rs138250704 0.00048
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001378609.3(OTOGL):c.3911A>T (p.His1304Leu) rs187723280 0.00047
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) rs141981161 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_015340.4(LARS2):c.1008C>T (p.Val336=) rs142803778 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_022124.6(CDH23):c.4947G>A (p.Thr1649=) rs373046094 0.00047
NM_024915.4(GRHL2):c.454G>A (p.Val152Met) rs147703146 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078 0.00047
NM_206933.4(USH2A):c.9258+15T>C rs181894778 0.00047
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491 0.00046
NM_000335.5(SCN5A):c.3663+10T>C rs200656652 0.00046
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001031679.3(MSRB3):c.-110C>T rs150572160 0.00046
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=) rs367994477 0.00046
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys) rs145897390 0.00046
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001267550.2(TTN):c.65276-8T>C rs377484398 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys) rs201272728 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=) rs151274810 0.00046
NM_001371333.1(DIABLO):c.315+6T>A rs370571609 0.00046
NM_001379180.1(ESRRB):c.949G>A (p.Asp317Asn) rs145982062 0.00046
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750 0.00046
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) rs138158369 0.00046
NM_004006.3(DMD):c.4072-245C>T rs140237546 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_005228.5(EGFR):c.2289C>G (p.Ala763=) rs117420095 0.00046
NM_005228.5(EGFR):c.2748C>T (p.Asp916=) rs41396448 0.00046
NM_005379.4(MYO1A):c.1340G>A (p.Arg447Gln) rs138679694 0.00046
NM_005422.4(TECTA):c.2638A>G (p.Thr880Ala) rs143315827 0.00046
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) rs142143310 0.00046
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg) rs200843771 0.00046
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro) rs201826872 0.00046
NM_022114.4(PRDM16):c.3110-4G>A rs201495178 0.00046
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_144672.4(OTOA):c.120+10C>G rs200215069 0.00046
NM_144991.3(TSPEAR):c.1878C>T (p.Phe626=) rs150268113 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_174878.3(CLRN1):c.433+1106T>C rs140407590 0.00046
NM_181458.4(PAX3):c.9G>A (p.Thr3=) rs377366463 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000091.5(COL4A3):c.2826C>T (p.Pro942=) rs201064766 0.00045
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000514.4(GDNF):c.*5G>A rs145996577 0.00045
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=) rs186498011 0.00045
NM_001146079.2(CLDN14):c.102G>A (p.Ala34=) rs146395322 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) rs144094650 0.00045
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr) rs141027782 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001371333.1(DIABLO):c.316-8A>G rs137928955 0.00045
NM_001378609.3(OTOGL):c.4146C>A (p.Pro1382=) rs374853700 0.00045
NM_001378609.3(OTOGL):c.4279+12C>T rs200115208 0.00045
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=) rs146796009 0.00045
NM_002471.4(MYH6):c.1141+8G>T rs377327277 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288 0.00045
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile) rs141011840 0.00045
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948 0.00045
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=) rs183834387 0.00045
NM_016239.4(MYO15A):c.915C>T (p.Tyr305=) rs200695102 0.00045
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu) rs370046582 0.00045
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_144573.4(NEXN):c.732C>A (p.Pro244=) rs201171783 0.00045
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val) rs137868043 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) rs139146419 0.00044
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002458.3(MUC5B):c.2068A>G (p.Lys690Glu) rs376986344 0.00044
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_002700.3(POU4F3):c.230A>G (p.Asp77Gly) rs138310635 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_004817.4(TJP2):c.2880+19C>T rs200384355 0.00044
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) rs181571822 0.00044
NM_014000.3(VCL):c.1237G>A (p.Ala413Thr) rs146278697 0.00044
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310 0.00044
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) rs202101019 0.00044
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile) rs201364852 0.00044
NM_024867.4(SPEF2):c.2390A>G (p.Asp797Gly) rs201730485 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_138691.3(TMC1):c.1602C>G (p.Thr534=) rs111033462 0.00044
NM_170682.4(P2RX2):c.1176T>C (p.Pro392=) rs189869132 0.00044
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644 0.00044
NM_194248.3(OTOF):c.894C>T (p.Asn298=) rs112794890 0.00044
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=) rs191358470 0.00044
NM_000140.5(FECH):c.362A>G (p.Glu121Gly) rs141813907 0.00043
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000260.4(MYO7A):c.1422G>A (p.Gln474=) rs201332147 0.00043
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412 0.00043
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926 0.00043
NM_000337.5(SGCD):c.-352T>C rs727503419 0.00043
NM_001031679.3(MSRB3):c.-95C>T rs149757878 0.00043
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) rs145301300 0.00043
NM_001105206.3(LAMA4):c.967-15C>G rs375041786 0.00043
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_001378609.3(OTOGL):c.792A>G (p.Gln264=) rs144176460 0.00043
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=) rs149481989 0.00043
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834 0.00043
NM_005379.4(MYO1A):c.2228T>C (p.Ile743Thr) rs145027196 0.00043
NM_005548.3(KARS1):c.601T>C (p.Tyr201His) rs150529876 0.00043
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu) rs201398260 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_144991.3(TSPEAR):c.791-14G>C rs199699551 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_001039141.3(TRIOBP):c.4666G>A (p.Glu1556Lys) rs376793698 0.00042
NM_001042702.5(PJVK):c.*2A>C rs200811582 0.00042
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser) rs546735322 0.00042
NM_002294.3(LAMP2):c.*15T>C rs376806600 0.00042
NM_003803.4(MYOM1):c.2385-13G>A rs116126674 0.00042
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811 0.00042
NM_005219.5(DIAPH1):c.2358+15C>G rs375375478 0.00042
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp) rs144009842 0.00042
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) rs144492050 0.00042
NM_006073.4(TRDN):c.546G>A (p.Lys182=) rs377594350 0.00042
NM_016239.4(MYO15A):c.9792G>A (p.Gln3264=) rs149189607 0.00042
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_133379.5(TTN):c.14616C>T (p.Ser4872=) rs148105798 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr) rs148967240 0.00042
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_000091.5(COL4A3):c.21C>A (p.Pro7=) rs530353117 0.00041
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu) rs144038296 0.00041
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00041
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165 0.00041
NM_001267550.2(TTN):c.30433+11T>G rs199848546 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val) rs201482015 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu) rs202096200 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001354604.2(MITF):c.881-7T>A rs200580325 0.00041
NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg) rs139511903 0.00041
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile) rs182149228 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile) rs150904526 0.00041
NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=) rs144810195 0.00041
NM_004700.4(KCNQ4):c.946-12C>G rs146802754 0.00041
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970 0.00041
NM_005422.4(TECTA):c.2299C>A (p.Arg767=) rs140534420 0.00041
NM_006005.3(WFS1):c.2202C>T (p.Leu734=) rs140427062 0.00041
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_016203.4(PRKAG2):c.946+3A>G rs376173303 0.00041
NM_016239.4(MYO15A):c.7068C>T (p.Asp2356=) rs373935449 0.00041
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val) rs56261037 0.00041
NM_020297.4(ABCC9):c.2862C>T (p.Asp954=) rs2291550 0.00041
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182 0.00041
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_144573.4(NEXN):c.1785C>T (p.Asp595=) rs182998780 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro) rs199680570 0.00041
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001015878.2(AURKC):c.744C>G (p.Tyr248Ter) rs55658999 0.00040
NM_001039141.3(TRIOBP):c.4103G>A (p.Arg1368Gln) rs182816010 0.00040
NM_001039141.3(TRIOBP):c.6324+235C>T rs146823511 0.00040
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp) rs200215464 0.00040
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137 0.00040
NM_007078.3(LDB3):c.-15G>A rs201865389 0.00040
NM_016239.4(MYO15A):c.3999C>T (p.Ala1333=) rs192570479 0.00040
NM_022114.4(PRDM16):c.102G>A (p.Ala34=) rs374918897 0.00040
NM_032578.4(MYPN):c.2190G>A (p.Thr730=) rs71584492 0.00040
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926 0.00040
NM_194248.3(OTOF):c.1116C>T (p.Tyr372=) rs147595264 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_194248.3(OTOF):c.80-5C>T rs531034566 0.00040
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) rs141226759 0.00039
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001089.3(ABCA3):c.1549G>A (p.Glu517Lys) rs201157181 0.00039
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001145809.2(MYH14):c.5778C>T (p.Leu1926=) rs201839634 0.00039
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) rs141314684 0.00039
NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=) rs56178910 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147 0.00039
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004415.4(DSP):c.4500G>T (p.Leu1500=) rs372881903 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr) rs182072601 0.00039
NM_016239.4(MYO15A):c.876C>T (p.Pro292=) rs368755362 0.00039
NM_017433.5(MYO3A):c.3584T>C (p.Val1195Ala) rs35675577 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=) rs76102634 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_133379.5(TTN):c.13792C>T (p.Pro4598Ser) rs145996491 0.00039
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=) rs150691499 0.00039
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441 0.00038
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704 0.00038
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505 0.00038
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001039876.3(SYNE4):c.128+10G>A rs376639796 0.00038
NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser) rs145522874 0.00038
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) rs141181035 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=) rs144469697 0.00038
NM_001267550.2(TTN):c.180T>C (p.Asp60=) rs144750850 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797 0.00038
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg) rs143975327 0.00038
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_002473.6(MYH9):c.2517G>A (p.Gln839=) rs34498733 0.00038
NM_004006.3(DMD):c.5181A>T (p.Ile1727=) rs200887855 0.00038
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00038
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=) rs150096625 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_021167.5(GATAD1):c.249+13G>A rs548757932 0.00038
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=) rs202030777 0.00038
NM_080680.3(COL11A2):c.2064A>G (p.Gly688=) rs753871660 0.00038
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val) rs145160241 0.00038
NM_144672.4(OTOA):c.2207+9C>T rs374535775 0.00038
NM_153700.2(STRC):c.890A>G (p.Asn297Ser) rs876658011 0.00038
NM_178335.3(CCDC50):c.1429+5G>A rs375535283 0.00038
NM_194248.3(OTOF):c.2215-155A>G rs143933877 0.00038
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_001032283.3(TMPO):c.565+1848G>A rs34301677 0.00037
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser) rs139380111 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001384140.1(PCDH15):c.913C>G (p.Gln305Glu) rs143058902 0.00037
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn) rs144880521 0.00037
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00037
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) rs144415484 0.00037
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_016239.4(MYO15A):c.6112C>T (p.Arg2038Cys) rs146633221 0.00037
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala) rs138955440 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032229.3(SLITRK6):c.903G>A (p.Thr301=) rs145725721 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_033118.4(MYLK2):c.783G>A (p.Pro261=) rs144621796 0.00037
NM_057176.3(BSND):c.*14C>T rs187356092 0.00037
NM_153700.2(STRC):c.4593T>C (p.Leu1531=) rs201633242 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052 0.00036
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile) rs200359303 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) rs199971778 0.00036
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His) rs115066564 0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 0.00036
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_001145809.2(MYH14):c.4753-5A>G rs118097099 0.00036
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001277115.2(DNAH11):c.11418C>T (p.Phe3806=) rs187814474 0.00036
NM_001292063.2(OTOG):c.7866C>T (p.Pro2622=) rs200566292 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001318895.3(FHL2):c.207G>A (p.Ser69=) rs138189036 0.00036
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) rs140148322 0.00036
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838 0.00036
NM_001393500.2(TOMT):c.596C>T (p.Ala199Val) rs540371915 0.00036
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_003803.4(MYOM1):c.4177A>G (p.Lys1393Glu) rs371239754 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004415.4(DSP):c.8199G>C (p.Thr2733=) rs145085696 0.00036
NM_004568.6(SERPINB6):c.996C>T (p.Ala332=) rs147792064 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_005188.4(CBL):c.12C>T (p.Asn4=) rs371567712 0.00036
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_006073.4(TRDN):c.1472-12G>A rs375364108 0.00036
NM_006393.3(NEBL):c.1962+7A>G rs371630900 0.00036
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu) rs149897775 0.00036
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758 0.00036
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln) rs200456053 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_016239.4(MYO15A):c.6743C>T (p.Ala2248Val) rs199831544 0.00036
NM_017433.5(MYO3A):c.3000-11T>C rs375346333 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949 0.00036
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=) rs75019370 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333 0.00036
NM_133379.5(TTN):c.10646G>A (p.Arg3549His) rs148115514 0.00036
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 0.00036
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) rs199918940 0.00035
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_000260.4(MYO7A):c.6558+9G>A rs111033184 0.00035
NM_000260.4(MYO7A):c.849+7C>G rs370740228 0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000503.6(EYA1):c.35G>A (p.Arg12His) rs74720958 0.00035
NM_001018116.2(CAVIN4):c.519G>C (p.Ser173=) rs145794010 0.00035
NM_001039141.3(TRIOBP):c.4329A>G (p.Leu1443=) rs547759535 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=) rs141926228 0.00035
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr) rs375904468 0.00035
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803 0.00035
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 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_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00035
NM_001292063.2(OTOG):c.1623G>A (p.Leu541=) rs755383141 0.00035
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) rs545321215 0.00035
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_004086.3(COCH):c.786A>G (p.Val262=) rs375612298 0.00035
NM_004700.4(KCNQ4):c.*7T>C rs537008263 0.00035
NM_004999.4(MYO6):c.18C>T (p.Pro6=) rs138024490 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006393.3(NEBL):c.2148+4T>C rs193163659 0.00035
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00035
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser) rs200562747 0.00035
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993 0.00035
NM_022124.6(CDH23):c.6809G>A (p.Arg2270His) rs139409005 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn) rs150425166 0.00035
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809 0.00035
NM_024915.4(GRHL2):c.543G>A (p.Glu181=) rs200674096 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_033118.4(MYLK2):c.549C>T (p.His183=) rs3746597 0.00035
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) rs372065024 0.00035
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr) rs144594692 0.00035
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000260.4(MYO7A):c.5169-5G>A rs727505232 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=) rs376826051 0.00034
NM_000395.3(CSF2RB):c.2608G>A (p.Val870Ile) rs149281832 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000441.1(SLC26A4):c.-60A>G rs545973091 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=) rs142362933 0.00034
NM_001031679.3(MSRB3):c.483T>C (p.Pro161=) rs141532859 0.00034
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001035.3(RYR2):c.463+6dup rs397516534 0.00034
NM_001039141.3(TRIOBP):c.4497T>G (p.Thr1499=) rs139919698 0.00034
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318 0.00034
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445 0.00034
NM_001145809.2(MYH14):c.5960+8C>T rs373176553 0.00034
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys) rs369933152 0.00034
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu) rs373065549 0.00034
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001370649.1(CLIC5):c.-55+49397T>A rs180804785 0.00034
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) rs114687298 0.00034
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) rs138145424 0.00034
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005422.4(TECTA):c.199-4G>A rs373736415 0.00034
NM_005422.4(TECTA):c.5273-8del rs727504781 0.00034
NM_007078.3(LDB3):c.732C>T (p.Pro244=) rs144509718 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_017433.5(MYO3A):c.1174T>C (p.Ser392Pro) rs201323717 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His) rs374156784 0.00034
NM_024009.3(GJB3):c.-4C>T rs200902087 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_032119.4(ADGRV1):c.11562C>T (p.Ala3854=) rs182115637 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_133379.5(TTN):c.15193C>T (p.Pro5065Ser) rs200953966 0.00034
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys) rs62179016 0.00034
NM_138691.3(TMC1):c.1019T>C (p.Met340Thr) rs111033464 0.00034
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys) rs201447781 0.00034
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) rs147904376 0.00034
NM_147196.3(TMIE):c.102G>A (p.Thr34=) rs201107982 0.00034
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_000059.4(BRCA2):c.10095_10096insT (p.Ser3366Ter) rs730881599 0.00033
NM_000260.4(MYO7A):c.2282+5G>A rs540145750 0.00033
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser) rs200643387 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser) rs547173007 0.00033
NM_001395426.1(PDE4DIP):c.*68G>A rs1553638882 0.00033
NM_002906.4(RDX):c.1106C>G (p.Thr369Ser) rs201399984 0.00033
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_005228.5(EGFR):c.2355C>T (p.Thr785=) rs148188503 0.00033
NM_005379.4(MYO1A):c.1770G>A (p.Lys590=) rs200927840 0.00033
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) rs144274136 0.00033
NM_006073.4(TRDN):c.1472-13C>T rs367962513 0.00033
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00033
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681 0.00033
NM_020433.5(JPH2):c.1107T>C (p.Ser369=) rs148311735 0.00033
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser) rs200496467 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) rs193922378 0.00032
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927 0.00032
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_001039213.4(CEACAM16):c.539C>T (p.Ser180Phe) rs59028589 0.00032
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter) rs200758965 0.00032
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275 0.00032
NM_001267550.2(TTN):c.11583C>T (p.Thr3861=) rs11899887 0.00032
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.39128-14T>C rs200916144 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 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.9789C>T (p.Ser3263=) rs138313387 0.00032
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_002473.6(MYH9):c.1491C>T (p.Ile497=) rs146487404 0.00032
NM_002473.6(MYH9):c.3943-7C>A rs376396278 0.00032
NM_002473.6(MYH9):c.4831G>A (p.Ala1611Thr) rs150029980 0.00032
NM_002880.4(RAF1):c.-59C>A rs201603517 0.00032
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_004415.4(DSP):c.531C>G (p.Gly177=) rs138865799 0.00032
NM_005422.4(TECTA):c.552C>T (p.Tyr184=) rs148364865 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) rs200697103 0.00032
NM_006644.4(HSPH1):c.754T>C (p.Tyr252His) rs146520007 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala) rs368760461 0.00032
NM_016239.4(MYO15A):c.9613-13C>T rs368335921 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) rs202066007 0.00032
NM_133261.3(GIPC3):c.319C>A (p.Arg107=) rs138707041 0.00032
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) rs186644871 0.00031
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000335.5(SCN5A):c.456C>T (p.Asp152=) rs190803993 0.00031
NM_000441.1(SLC26A4):c.-189A>T rs111033440 0.00031
NM_001035.3(RYR2):c.11092-6A>T rs397516501 0.00031
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met) rs201829896 0.00031
NM_001035.3(RYR2):c.3067-16_3067-15del rs727504453 0.00031
NM_001035.3(RYR2):c.774-14G>T rs370114411 0.00031
NM_001039141.3(TRIOBP):c.6324+191G>A rs181741158 0.00031
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser) rs191901426 0.00031
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209 0.00031
NM_001105206.3(LAMA4):c.4626T>C (p.Ile1542=) rs150791451 0.00031
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp) rs146399987 0.00031
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162 0.00031
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) rs117287351 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.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00031
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_001276345.2(TNNT2):c.720-13_720-11del rs397516480 0.00031
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg) rs189432084 0.00031
NM_001292063.2(OTOG):c.1806C>T (p.Ser602=) rs536715287 0.00031
NM_001369.3(DNAH5):c.11570+8T>C rs369789559 0.00031
NM_001614.5(ACTG1):c.364-8C>T rs201748657 0.00031
NM_002458.3(MUC5B):c.3483T>C (p.His1161=) rs376955587 0.00031
NM_002471.4(MYH6):c.4359+5A>G rs193283041 0.00031
NM_002471.4(MYH6):c.4359+8A>C rs188675676 0.00031
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=) rs150450178 0.00031
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_002700.3(POU4F3):c.421C>A (p.Pro141Thr) rs139312280 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004985.5(KRAS):c.451-5565G>A rs200970347 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val) rs200058166 0.00031
NM_006005.3(WFS1):c.594G>A (p.Ala198=) rs563931269 0.00031
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 0.00031
NM_006941.4(SOX10):c.122G>T (p.Gly41Val) rs199750760 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_014000.3(VCL):c.1626C>T (p.Leu542=) rs150402791 0.00031
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043 0.00031
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=) rs74067815 0.00031
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) rs138280089 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr) rs375918283 0.00031
NM_022124.6(CDH23):c.6377G>A (p.Arg2126His) rs201942629 0.00031
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00031
NM_033118.4(MYLK2):c.1176C>T (p.Asp392=) rs147099889 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_133261.3(GIPC3):c.20G>A (p.Arg7Gln) rs998073430 0.00031
NM_133261.3(GIPC3):c.440G>A (p.Arg147Gln) rs141293401 0.00031
NM_133379.5(TTN):c.14240A>T (p.Asp4747Val) rs149586047 0.00031
NM_144498.4(OSBPL2):c.429C>G (p.Ser143=) rs142341897 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_201596.3(CACNB2):c.804+146G>T rs199539261 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_207034.3(EDN3):c.208G>A (p.Ala70Thr) rs369429604 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000256.3(MYBPC3):c.772+10C>T rs375525278 0.00030
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=) rs146144731 0.00030
NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val) rs142560436 0.00030
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=) rs55821172 0.00030
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=) rs372686070 0.00030
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001292063.2(OTOG):c.5918C>T (p.Thr1973Met) rs868729716 0.00030
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347 0.00030
NM_001378609.3(OTOGL):c.2628C>T (p.Asn876=) rs371565107 0.00030
NM_001378609.3(OTOGL):c.708C>T (p.Asp236=) rs370298976 0.00030
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=) rs367826075 0.00030
NM_001386795.1(DTNA):c.51G>A (p.Gln17=) rs368000651 0.00030
NM_002458.3(MUC5B):c.3926C>T (p.Thr1309Met) rs200226020 0.00030
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002471.4(MYH6):c.4611G>A (p.Val1537=) rs142983918 0.00030
NM_003280.3(TNNC1):c.108C>A (p.Ile36=) rs202000367 0.00030
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_004999.4(MYO6):c.52A>G (p.Met18Val) rs142516093 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_015340.4(LARS2):c.1622+8G>A rs202009605 0.00030
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) rs201033926 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_022124.6(CDH23):c.2171G>A (p.Arg724His) rs374955091 0.00030
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570 0.00030
NM_022124.6(CDH23):c.9087G>A (p.Gln3029=) rs376098894 0.00030
NM_030662.4(MAP2K2):c.303+12G>A rs376432107 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=) rs41305094 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=) rs372838090 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610 0.00029
NM_000257.4(MYH7):c.5725C>A (p.Arg1909=) rs146796870 0.00029
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369 0.00029
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.3925-8G>A rs367645097 0.00029
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000414.4(HSD17B4):c.1261+14A>G rs371682983 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001018005.2(TPM1):c.851+6C>T rs375043184 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_001038603.3(MARVELD2):c.585A>G (p.Ile195Met) rs144870558 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001145809.2(MYH14):c.1026G>A (p.Pro342=) rs368124508 0.00029
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys) rs187789045 0.00029
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) rs192668758 0.00029
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.4645+8G>T rs144456585 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg) rs375204371 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val) rs137855415 0.00029
NM_001286445.3(RIPOR2):c.1329G>A (p.Ala443=) rs200686463 0.00029
NM_001376256.1(CRYM):c.108C>A (p.Ser36Arg) rs147233841 0.00029
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197 0.00029
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) rs201016285 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_002471.4(MYH6):c.981C>T (p.Ser327=) rs148407931 0.00029
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser) rs184022679 0.00029
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821 0.00029
NM_004086.3(COCH):c.1128C>T (p.Ser376=) rs146166304 0.00029
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_014000.3(VCL):c.366G>A (p.Leu122=) rs199562976 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_014476.6(PDLIM3):c.195G>A (p.Ala65=) rs148570356 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp) rs138121304 0.00029
NM_015340.4(LARS2):c.488G>A (p.Arg163His) rs150185028 0.00029
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His) rs201794696 0.00029
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00029
NM_022124.6(CDH23):c.1134+53C>A rs572222393 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=) rs117641264 0.00029
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=) rs373352597 0.00029
NM_033118.4(MYLK2):c.786A>G (p.Pro262=) rs727504437 0.00029
NM_080680.3(COL11A2):c.1875C>T (p.Gly625=) rs141815296 0.00029
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser) rs72647902 0.00029
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_138691.3(TMC1):c.1705A>G (p.Thr569Ala) rs148971770 0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_144672.4(OTOA):c.605G>C (p.Arg202Pro) rs142850013 0.00029
NM_144991.3(TSPEAR):c.1335A>G (p.Glu445=) rs200789378 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_181458.4(PAX3):c.321+10C>A rs140960868 0.00029
NM_181507.2(HPS5):c.85C>A (p.Arg29=) rs138638048 0.00029
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_206933.4(USH2A):c.2167+11C>T rs139647897 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942 0.00028
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667 0.00028
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_000601.6(HGF):c.885C>T (p.Asp295=) rs141751290 0.00028
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=) rs368119524 0.00028
NM_001039876.3(SYNE4):c.638C>T (p.Thr213Met) rs199916743 0.00028
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His) rs140346737 0.00028
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro) rs150250182 0.00028
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049 0.00028
NM_001267550.2(TTN):c.28463-14G>A rs200917885 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) rs191699632 0.00028
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln) rs142009291 0.00028
NM_001614.5(ACTG1):c.1113C>T (p.His371=) rs117765323 0.00028
NM_002294.3(LAMP2):c.-10C>T rs201209341 0.00028
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) rs75487328 0.00028
NM_004281.4(BAG3):c.771C>T (p.Pro257=) rs200212999 0.00028
NM_005422.4(TECTA):c.3103G>A (p.Glu1035Lys) rs150512674 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) rs142651446 0.00028
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn) rs368603235 0.00028
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys) rs2289532 0.00028
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824 0.00028
NM_032119.4(ADGRV1):c.17871G>A (p.Ala5957=) rs373800116 0.00028
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_144498.4(OSBPL2):c.1250-3del rs781009740 0.00028
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345 0.00027
NM_000260.4(MYO7A):c.758A>G (p.His253Arg) rs375200566 0.00027
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_000503.6(EYA1):c.1734G>A (p.Ser578=) rs770876882 0.00027
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=) rs143587921 0.00027
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val) rs767734855 0.00027
NM_001267550.2(TTN):c.33172+4G>A rs756475184 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln) rs147254212 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00027
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001292063.2(OTOG):c.8022G>A (p.Pro2674=) rs753850661 0.00027
NM_001354604.2(MITF):c.1182A>G (p.Glu394=) rs137904015 0.00027
NM_001378609.3(OTOGL):c.5736T>C (p.Val1912=) rs368807465 0.00027
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517 0.00027
NM_002834.3(PTPN11):c.*13A>G rs201957261 0.00027
NM_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln) rs200605472 0.00027
NM_020975.6(RET):c.2673G>A (p.Ser891=) rs201620214 0.00027
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096 0.00027
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser) rs201876362 0.00027
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083 0.00027
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile) rs373954823 0.00027
NM_144672.4(OTOA):c.921G>A (p.Ala307=) rs12051473 0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) rs201097154 0.00027
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393 0.00027
NM_182548.4(LHFPL5):c.321C>T (p.Leu107=) rs200392480 0.00027
NM_194248.3(OTOF):c.3679C>A (p.Arg1227=) rs111033478 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_213653.4(HJV):c.959G>T (p.Gly320Val) rs74315323 0.00027
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229 0.00026
NM_000138.5(FBN1):c.2187A>C (p.Leu729=) rs61730055 0.00026
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000256.3(MYBPC3):c.1624+14_1624+15insA rs369096037 0.00026
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_001005242.3(PKP2):c.696C>T (p.Asp232=) rs375677250 0.00026
NM_001039141.3(TRIOBP):c.4484A>T (p.Glu1495Val) rs183455182 0.00026
NM_001039141.3(TRIOBP):c.6792G>A (p.Ser2264=) rs371118329 0.00026
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) rs186968009 0.00026
NM_001128840.3(CACNA1D):c.3361A>G (p.Ile1121Val) rs146892408 0.00026
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln) rs372923744 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) rs201298767 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg) rs368297438 0.00026
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) rs367603302 0.00026
NM_001267550.2(TTN):c.57263-4C>T rs373552048 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 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.74844G>A (p.Lys24948=) rs371884545 0.00026
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=) rs72648208 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001292063.2(OTOG):c.6515G>A (p.Arg2172His) rs555068328 0.00026
NM_001292063.2(OTOG):c.7380T>A (p.Asp2460Glu) rs532385451 0.00026
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met) rs201137087 0.00026
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00026
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004006.3(DMD):c.9225-5819G>T rs377152944 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_004568.6(SERPINB6):c.725G>A (p.Arg242Lys) rs187482841 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005422.4(TECTA):c.5766A>G (p.Thr1922=) rs149602974 0.00026
NM_006941.4(SOX10):c.428+10C>G rs201638602 0.00026
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_013314.4(BLNK):c.115C>T (p.Leu39=) rs34135972 0.00026
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) rs199783506 0.00026
NM_016239.4(MYO15A):c.7926G>A (p.Pro2642=) rs372373045 0.00026
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_016239.4(MYO15A):c.9873C>T (p.Leu3291=) rs146865523 0.00026
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr) rs142823078 0.00026
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro) rs149521185 0.00026
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln) rs199508694 0.00026
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=) rs200874968 0.00026
NM_032119.4(ADGRV1):c.3741G>A (p.Glu1247=) rs371571867 0.00026
NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys) rs201210744 0.00026
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893 0.00026
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=) rs34478777 0.00026
NM_080680.3(COL11A2):c.5071-5T>G rs368309085 0.00026
NM_144672.4(OTOA):c.739+11A>G rs186092865 0.00026
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) rs137955225 0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_152594.3(SPRED1):c.377-10A>G rs376134678 0.00026
NM_153700.2(STRC):c.4546-13G>C rs374896210 0.00026
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052 0.00026
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_198999.3(SLC26A5):c.498T>C (p.Asn166=) rs151200437 0.00026
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe) rs145638628 0.00026
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802 0.00026
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500 0.00026
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374 0.00025
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys) rs574725520 0.00025
NM_000432.4(MYL2):c.275-14G>C rs375703502 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001039213.4(CEACAM16):c.116T>A (p.Leu39Gln) rs375722926 0.00025
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001114086.2(CLIC5):c.360C>T (p.Cys120=) rs370825642 0.00025
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=) rs150463212 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=) rs368984050 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) rs528832388 0.00025
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650 0.00025
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) rs148434577 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser) rs569121054 0.00025
NM_001386795.1(DTNA):c.316C>G (p.Gln106Glu) rs140768365 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_002230.4(JUP):c.1910G>A (p.Arg637His) rs142095597 0.00025
NM_002458.3(MUC5B):c.3584-10C>T rs140245340 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_004281.4(BAG3):c.645C>T (p.Asn215=) rs138078305 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004700.4(KCNQ4):c.438G>A (p.Glu146=) rs144434662 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_005343.4(HRAS):c.450+171C>T rs376091236 0.00025
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_007078.3(LDB3):c.1971C>T (p.Cys657=) rs140552419 0.00025
NM_013296.5(GPSM2):c.1631C>T (p.Thr544Met) rs191870755 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816 0.00025
NM_016929.5(CLIC5):c.491C>G (p.Thr164Ser) rs201781198 0.00025
NM_016929.5(CLIC5):c.696A>T (p.Ala232=) rs187897856 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His) rs201067092 0.00025
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00025
NM_022124.6(CDH23):c.9438G>A (p.Ala3146=) rs200572025 0.00025
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883 0.00025
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_133379.5(TTN):c.11283G>C (p.Lys3761Asn) rs200816462 0.00025
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val) rs72647901 0.00025
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_144991.3(TSPEAR):c.542+15G>A rs587599565 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 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_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp) rs200583769 0.00024
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_000414.4(HSD17B4):c.622+15T>A rs201280286 0.00024
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys) rs149470089 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser) rs185332310 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) rs146353237 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00024
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=) rs75948012 0.00024
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln) rs199788826 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys) rs117729990 0.00024
NM_001277115.2(DNAH11):c.4945-12T>C rs141572016 0.00024
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00024
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu) rs200797401 0.00024
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562 0.00024
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_001384474.1(LOXHD1):c.2580G>A (p.Ala860=) rs118140267 0.00024
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860 0.00024
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp) rs199867593 0.00024
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) rs182162229 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_002880.4(RAF1):c.1537-11G>A rs182394722 0.00024
NM_003803.4(MYOM1):c.1502-12C>T rs201937304 0.00024
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln) rs147050513 0.00024
NM_004004.6(GJB2):c.-127G>C rs727503068 0.00024
NM_004086.3(COCH):c.141T>C (p.Asp47=) rs199674735 0.00024
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018 0.00024
NM_005379.4(MYO1A):c.1667C>T (p.Ser556Phe) rs571906190 0.00024
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005422.4(TECTA):c.2700G>A (p.Ser900=) rs375406423 0.00024
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_007078.3(LDB3):c.1503C>T (p.Ala501=) rs147692024 0.00024
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu) rs201763265 0.00024
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) rs200249886 0.00024
NM_016239.4(MYO15A):c.4142+6T>C rs368090576 0.00024
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=) rs145688699 0.00024
NM_017433.5(MYO3A):c.1052A>C (p.Glu351Ala) rs141612979 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_024334.3(TMEM43):c.564C>T (p.Gly188=) rs143124744 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=) rs144850779 0.00024
NM_031475.3(ESPN):c.337C>T (p.Arg113Cys) rs143577178 0.00024
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_080680.3(COL11A2):c.1819-10G>A rs3129202 0.00024
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly) rs142973956 0.00024
NM_144991.3(TSPEAR):c.1185G>T (p.Glu395Asp) rs143303485 0.00024
NM_153700.2(STRC):c.4563G>A (p.Arg1521=) rs140729822 0.00024
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=) rs397518016 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219 0.00023
NM_000542.5(SFTPB):c.548G>A (p.Gly183Glu) rs35524245 0.00023
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442 0.00023
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001145809.2(MYH14):c.4943G>A (p.Arg1648Lys) rs727503228 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His) rs377388499 0.00023
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro) rs778687487 0.00023
NM_001330.5(CTF1):c.275C>A (p.Ala92Glu) rs727502949 0.00023
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063 0.00023
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) rs527738649 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002473.6(MYH9):c.3100+7G>A rs553320578 0.00023
NM_004415.4(DSP):c.2794-4dup rs397516924 0.00023
NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=) rs568177070 0.00023
NM_005219.5(DIAPH1):c.685-5A>G rs367786290 0.00023
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_014391.3(ANKRD1):c.652-10A>T rs397517252 0.00023
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln) rs138437422 0.00023
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=) rs200222411 0.00023
NM_016239.4(MYO15A):c.8652G>A (p.Ala2884=) rs373922407 0.00023
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=) rs140182559 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_024422.6(DSC2):c.-113C>A rs866593085 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=) rs369603764 0.00023
NM_144573.4(NEXN):c.1029G>A (p.Ala343=) rs374260457 0.00023
NM_174878.3(CLRN1):c.660C>T (p.Asp220=) rs148752352 0.00023
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165 0.00023
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000432.4(MYL2):c.353+12C>A rs186323458 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile) rs373243941 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001010892.3(RSPH4A):c.1245G>A (p.Gln415=) rs139726443 0.00022
NM_001032283.3(TMPO):c.252G>T (p.Ala84=) rs727504659 0.00022
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873 0.00022
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr) rs199853331 0.00022
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr) rs141261442 0.00022
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_001145809.2(MYH14):c.1155C>T (p.Asn385=) rs558991834 0.00022
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001256317.3(TMPRSS3):c.279C>T (p.Asp93=) rs145824109 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) rs192857526 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 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.54811+15G>A rs201450276 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001286445.3(RIPOR2):c.1130C>T (p.Pro377Leu) rs201901775 0.00022
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe) rs145325518 0.00022
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_001371333.1(DIABLO):c.-11C>T rs376530914 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn) rs201344770 0.00022
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=) rs199595156 0.00022
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636 0.00022
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_001395849.1(NPIPB5):c.1488C>T (p.Ala496=) rs755632125 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) rs372158844 0.00022
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser) rs200751434 0.00022
NM_002473.6(MYH9):c.2061C>T (p.Leu687=) rs143801000 0.00022
NM_004086.3(COCH):c.22G>A (p.Ala8Thr) rs200935305 0.00022
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_005422.4(TECTA):c.2886C>T (p.Ser962=) rs138065050 0.00022
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006393.3(NEBL):c.1449+14G>A rs373699154 0.00022
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu) rs143155251 0.00022
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400 0.00022
NM_015512.5(DNAH1):c.5332-14G>A rs375828810 0.00022
NM_016239.4(MYO15A):c.6274-10C>T rs201459354 0.00022
NM_017433.5(MYO3A):c.4840C>T (p.Gln1614Ter) rs146106052 0.00022
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile) rs369697366 0.00022
NM_022124.6(CDH23):c.945+12G>A rs368487424 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=) rs201475256 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_032119.4(ADGRV1):c.8204A>G (p.Asn2735Ser) rs200604083 0.00022
NM_032229.3(SLITRK6):c.1638C>T (p.Cys546=) rs200014932 0.00022
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418 0.00022
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys) rs145460295 0.00022
NM_144672.4(OTOA):c.2019C>T (p.Asp673=) rs147901051 0.00022
NM_170682.4(P2RX2):c.381+2T>C rs200978001 0.00022
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=) rs189574905 0.00021
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) rs367738288 0.00021
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=) rs372328054 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_001010892.3(RSPH4A):c.1734C>T (p.Asp578=) rs188903141 0.00021
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00021
NM_001035.3(RYR2):c.1005+13A>G rs552027921 0.00021
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806 0.00021
NM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser) rs397516554 0.00021
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val) rs199938988 0.00021
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) rs150043310 0.00021
NM_001080476.3(GRXCR1):c.774G>A (p.Met258Ile) rs200029324 0.00021
NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu) rs373698416 0.00021
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00021
NM_001232.4(CASQ2):c.607-15T>C rs138298959 0.00021
NM_001243133.2(NLRP3):c.300G>A (p.Ser100=) rs149161277 0.00021
NM_001267550.2(TTN):c.101055T>C (p.Asp33685=) rs372788551 0.00021
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 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.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=) rs72647883 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_001277115.2(DNAH11):c.4254+13G>A rs371484690 0.00021
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001354604.2(MITF):c.114C>T (p.Ala38=) rs374097282 0.00021
NM_001354604.2(MITF):c.667-3C>T rs376704147 0.00021
NM_001378609.3(OTOGL):c.5069C>T (p.Pro1690Leu) rs185895624 0.00021
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=) rs111033499 0.00021
NM_001384140.1(PCDH15):c.4671+1642T>C rs182175548 0.00021
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=) rs189561302 0.00021
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480 0.00021
NM_001927.4(DES):c.166G>C (p.Val56Leu) rs578066781 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_002471.4(MYH6):c.1839C>G (p.Ser613=) rs138984258 0.00021
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) rs376002621 0.00021
NM_002473.6(MYH9):c.18C>T (p.Ala6=) rs141055332 0.00021
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn) rs148756457 0.00021
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004281.4(BAG3):c.1674G>A (p.Ala558=) rs142981190 0.00021
NM_004281.4(BAG3):c.471G>A (p.Ala157=) rs148985314 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004568.6(SERPINB6):c.430+3G>A rs201080069 0.00021
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665 0.00021
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629 0.00021
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) rs200683397 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_014000.3(VCL):c.1788A>C (p.Ser596=) rs199582103 0.00021
NM_015404.4(WHRN):c.619G>T (p.Ala207Ser) rs111033469 0.00021
NM_015512.5(DNAH1):c.4086G>T (p.Arg1362=) rs199813499 0.00021
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=) rs201026034 0.00021
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln) rs761180573 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_021167.5(GATAD1):c.276T>G (p.Ser92=) rs143082866 0.00021
NM_021167.5(GATAD1):c.48G>A (p.Ser16=) rs376686657 0.00021
NM_022114.4(PRDM16):c.3109+9C>T rs369808146 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.3106+17C>T rs557460474 0.00021
NM_022124.6(CDH23):c.551G>A (p.Arg184His) rs201132251 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=) rs141675061 0.00021
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln) rs143535006 0.00021
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248 0.00021
NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu) rs186975400 0.00021
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00021
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_133379.5(TTN):c.16020T>C (p.His5340=) rs200378944 0.00021
NM_153676.4(USH1C):c.1386G>A (p.Gln462=) rs141564204 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met) rs727503359 0.00021
NM_206933.4(USH2A):c.1550+10T>C rs200728788 0.00021
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) rs201710470 0.00021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_206933.4(USH2A):c.6325+13G>A rs368490585 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001039141.3(TRIOBP):c.4726C>T (p.Arg1576Cys) rs200113910 0.00020
NM_001039141.3(TRIOBP):c.4935A>G (p.Ala1645=) rs371078565 0.00020
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe) rs397516733 0.00020
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493 0.00020
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=) rs369327691 0.00020
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=) rs372740215 0.00020
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.48460+5G>A rs374413644 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.69853G>A (p.Glu23285Lys) rs376870149 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_001386795.1(DTNA):c.126G>A (p.Arg42=) rs376001633 0.00020
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) rs111306070 0.00020
NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile) rs202215158 0.00020
NM_002471.4(MYH6):c.202-12C>T rs566157802 0.00020
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) rs142427583 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.7521C>T (p.Asn2507=) rs112516305 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_006005.3(WFS1):c.1632C>T (p.Ser544=) rs140115060 0.00020
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) rs140266808 0.00020
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met) rs397517269 0.00020
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) rs200781310 0.00020
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln) rs141903506 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) rs376952695 0.00020
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_033337.3(CAV3):c.115-13G>C rs368367319 0.00020
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490 0.00020
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser) rs142132973 0.00020
NM_144672.4(OTOA):c.660C>T (p.Tyr220=) rs139292090 0.00020
NM_152732.5(RSPH9):c.421G>A (p.Val141Met) rs2295947 0.00020
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys) rs199955493 0.00020
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) rs200679164 0.00020
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376 0.00020
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NC_000007.14:g.129774774G>A rs375368092 0.00019
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000256.3(MYBPC3):c.207G>C (p.Arg69=) rs397515946 0.00019
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His) rs372628478 0.00019
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=) rs376344765 0.00019
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_000257.4(MYH7):c.796+7G>A rs369286647 0.00019
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270 0.00019
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004 0.00019
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys) rs781922871 0.00019
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156 0.00019
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_000501.4(ELN):c.427+9G>A rs370752724 0.00019
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578 0.00019
NM_001031679.3(MSRB3):c.531G>A (p.Pro177=) rs148675122 0.00019
NM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp) rs200411253 0.00019
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr) rs750153629 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001127217.3(SMAD9):c.48C>T (p.Pro16=) rs151312678 0.00019
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe) rs200382504 0.00019
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 0.00019
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp) rs201421156 0.00019
NM_001267550.2(TTN):c.22653T>C (p.Asp7551=) rs371736246 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=) rs371447978 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.39548-8A>G rs369594816 0.00019
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser) rs186404793 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) rs148210834 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001286445.3(RIPOR2):c.2430G>A (p.Ala810=) rs541774937 0.00019
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001292063.2(OTOG):c.4866C>T (p.Val1622=) rs780581249 0.00019
NM_001292063.2(OTOG):c.7461C>T (p.Cys2487=) rs530992812 0.00019
NM_001354604.2(MITF):c.329C>T (p.Thr110Met) rs190215588 0.00019
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) rs201297175 0.00019
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378609.3(OTOGL):c.3393T>C (p.Tyr1131=) rs574974638 0.00019
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168 0.00019
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002471.4(MYH6):c.1875C>T (p.Tyr625=) rs146591697 0.00019
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His) rs372794975 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_003280.3(TNNC1):c.324T>C (p.Ala108=) rs145066209 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193 0.00019
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_004568.6(SERPINB6):c.1050C>T (p.Cys350=) rs201048748 0.00019
NM_004568.6(SERPINB6):c.431-12T>G rs370453956 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_004985.5(KRAS):c.451-5535A>C rs201170656 0.00019
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_005422.4(TECTA):c.6250+12C>T rs199696601 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) rs200095753 0.00019
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006393.3(NEBL):c.14T>C (p.Val5Ala) rs145770601 0.00019
NM_006393.3(NEBL):c.1728T>C (p.Asp576=) rs1528182 0.00019
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) rs146471913 0.00019
NM_006393.3(NEBL):c.369+5G>A rs200249470 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_014000.3(VCL):c.2969C>T (p.Ala990Val) rs150595117 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val) rs150266349 0.00019
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806 0.00019
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_017433.5(MYO3A):c.1796G>T (p.Ser599Ile) rs142289318 0.00019
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His) rs148993025 0.00019
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) rs202111347 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_021116.4(ADCY1):c.1293C>T (p.Ala431=) rs145659731 0.00019
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_024915.4(GRHL2):c.216+8C>T rs376505205 0.00019
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu) rs759908554 0.00019
NM_032119.4(ADGRV1):c.2734+8A>G rs371906040 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977 0.00019
NM_033337.3(CAV3):c.306G>A (p.Ala102=) rs149375325 0.00019
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_133379.5(TTN):c.10625G>A (p.Arg3542Gln) rs141926114 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_144672.4(OTOA):c.1521C>T (p.Ile507=) rs140579035 0.00019
NM_144991.3(TSPEAR):c.1524C>T (p.Tyr508=) rs140557785 0.00019
NM_153676.4(USH1C):c.1449G>A (p.Ser483=) rs142669563 0.00019
NM_153676.4(USH1C):c.2616C>T (p.Ala872=) rs141591891 0.00019
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.5029G>A (p.Ala1677Thr) rs372908847 0.00019
NM_194248.3(OTOF):c.5196C>T (p.Tyr1732=) rs138681366 0.00019
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=) rs111033353 0.00019
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) rs189729452 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 0.00019
NR_029615.1(MIR183):n.105C>A rs563046665 0.00019
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443 0.00018
NM_000218.3(KCNQ1):c.605-11G>A rs200828849 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) rs727505215 0.00018
NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val) rs150773481 0.00018
NM_001105206.3(LAMA4):c.4691G>T (p.Ser1564Ile) rs369887291 0.00018
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) rs727505067 0.00018
NM_001145809.2(MYH14):c.2840G>A (p.Arg947His) rs374883445 0.00018
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 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.24922C>T (p.Pro8308Ser) rs373770383 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.32706G>A (p.Ala10902=) rs372124201 0.00018
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) rs201991864 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) rs371973579 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001277115.2(DNAH11):c.8770G>A (p.Val2924Met) rs72657369 0.00018
NM_001318895.3(FHL2):c.174C>T (p.Asp58=) rs141208906 0.00018
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00018
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_001692.4(ATP6V1B1):c.785+10C>T rs76241121 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_002906.4(RDX):c.1037A>C (p.Glu346Ala) rs141462728 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_004568.6(SERPINB6):c.313-5C>G rs370994947 0.00018
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_006005.3(WFS1):c.1923G>A (p.Thr641=) rs139040290 0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_014391.3(ANKRD1):c.441T>C (p.Asp147=) rs145827106 0.00018
NM_016239.4(MYO15A):c.10077G>A (p.Pro3359=) rs367627564 0.00018
NM_016239.4(MYO15A):c.3012A>G (p.Ser1004=) rs376387472 0.00018
NM_016239.4(MYO15A):c.4407T>C (p.Ser1469=) rs202180744 0.00018
NM_016239.4(MYO15A):c.5360+13G>T rs374693221 0.00018
NM_017433.5(MYO3A):c.1668A>G (p.Leu556=) rs112809849 0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_022124.6(CDH23):c.3431-6A>T rs377614198 0.00018
NM_031475.3(ESPN):c.2504G>A (p.Ser835Asn) rs727503039 0.00018
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509 0.00018
NM_032119.4(ADGRV1):c.17856+10C>T rs371949377 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508 0.00018
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu) rs200699092 0.00018
NM_194248.3(OTOF):c.5091G>A (p.Pro1697=) rs373568741 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met) rs200125037 0.00017
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754 0.00017
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=) rs375968860 0.00017
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala) rs12720843 0.00017
NM_000441.1(SLC26A4):c.-139C>T rs879914861 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000441.2(SLC26A4):c.1947C>T (p.Asn649=) rs761139326 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000601.6(HGF):c.682T>G (p.Ser228Ala) rs139457161 0.00017
NM_001032283.3(TMPO):c.806G>A (p.Arg269His) rs142891873 0.00017
NM_001038603.3(MARVELD2):c.*2G>A rs530892254 0.00017
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly) rs201008196 0.00017
NM_001039141.3(TRIOBP):c.5788C>T (p.Arg1930Trp) rs142769400 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001128840.3(CACNA1D):c.2406+5G>A rs193270389 0.00017
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) rs147169370 0.00017
NM_001199799.2(ILDR1):c.921A>G (p.Lys307=) rs370886914 0.00017
NM_001267550.2(TTN):c.11109C>T (p.Ser3703=) rs879160199 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=) rs182355009 0.00017
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile) rs727504200 0.00017
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe) rs376814602 0.00017
NM_001292063.2(OTOG):c.7693+13C>T rs773422239 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_003803.4(MYOM1):c.3863C>T (p.Pro1288Leu) rs200808890 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_004100.5(EYA4):c.1617-11C>T rs118166702 0.00017
NM_004415.4(DSP):c.3153C>T (p.Asn1051=) rs563387839 0.00017
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala) rs150440380 0.00017
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_007078.3(LDB3):c.1572G>A (p.Ala524=) rs149423035 0.00017
NM_007078.3(LDB3):c.1858-10T>C rs202208256 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met) rs142354133 0.00017
NM_017433.5(MYO3A):c.4730+11A>C rs375717548 0.00017
NM_017433.5(MYO3A):c.656C>T (p.Thr219Met) rs377660409 0.00017
NM_020297.4(ABCC9):c.3096+13C>T rs370712530 0.00017
NM_020297.4(ABCC9):c.4512+690C>T rs397517191 0.00017
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala) rs376612687 0.00017
NM_022114.4(PRDM16):c.252C>T (p.Phe84=) rs370290776 0.00017
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558 0.00017
NM_024334.3(TMEM43):c.361A>G (p.Met121Val) rs369878538 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His) rs200907244 0.00017
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046 0.00017
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163 0.00017
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp) rs1342864499 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_173477.5(USH1G):c.756C>T (p.Asp252=) rs146752863 0.00017
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile) rs769368494 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met) rs199893357 0.00016
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369 0.00016
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) rs137854610 0.00016
NM_000335.5(SCN5A):c.5478C>T (p.Ile1826=) rs138892850 0.00016
NM_000336.3(SCNN1B):c.1305G>A (p.Ala435=) rs727503413 0.00016
NM_000337.5(SGCD):c.-404G>A rs192662989 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr) rs368740836 0.00016
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) rs143038626 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_001032283.3(TMPO):c.534T>C (p.Asn178=) rs200016687 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059 0.00016
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=) rs200921429 0.00016
NM_001038603.3(MARVELD2):c.1310T>C (p.Ile437Thr) rs140452135 0.00016
NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=) rs192500421 0.00016
NM_001039141.3(TRIOBP):c.6324+162G>A rs201529268 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001080476.3(GRXCR1):c.331T>C (p.Tyr111His) rs201002003 0.00016
NM_001103.4(ACTN2):c.186C>T (p.Ile62=) rs34403480 0.00016
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) rs373650093 0.00016
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) rs148716975 0.00016
NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln) rs200910800 0.00016
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr) rs376071070 0.00016
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val) rs375355193 0.00016
NM_001145809.2(MYH14):c.3514C>A (p.Arg1172=) rs373919106 0.00016
NM_001201397.2(EDNRB):c.164T>G (p.Leu55Arg) rs761846391 0.00016
NM_001232.4(CASQ2):c.177G>A (p.Pro59=) rs371260149 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=) rs369993514 0.00016
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) rs367958537 0.00016
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) rs550471556 0.00016
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139 0.00016
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412 0.00016
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00016
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) rs371081043 0.00016
NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=) rs200717463 0.00016
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His) rs142129359 0.00016
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile) rs375211424 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.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941 0.00016
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=) rs375403439 0.00016
NM_001292063.2(OTOG):c.2294-6C>T rs201721923 0.00016
NM_001292063.2(OTOG):c.2562-14G>A rs550895099 0.00016
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu) rs542646349 0.00016
NM_001292063.2(OTOG):c.3819G>A (p.Ala1273=) rs750862882 0.00016
NM_001292063.2(OTOG):c.540+8C>T rs1027600196 0.00016
NM_001292063.2(OTOG):c.6006G>A (p.Pro2002=) rs554657199 0.00016
NM_001367479.1(DNAH14):c.502C>T (p.Pro168Ser) rs375791690 0.00016
NM_001371333.1(DIABLO):c.179C>T (p.Ala60Val) rs199898020 0.00016
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) rs367648094 0.00016
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_001378609.3(OTOGL):c.2560T>C (p.Phe854Leu) rs201487127 0.00016
NM_001378609.3(OTOGL):c.3555C>T (p.Tyr1185=) rs374198258 0.00016
NM_001379180.1(ESRRB):c.1176C>T (p.His392=) rs370193367 0.00016
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=) rs397517443 0.00016
NM_001393500.2(TOMT):c.703C>T (p.His235Tyr) rs570166217 0.00016
NM_001692.4(ATP6V1B1):c.368-6C>T rs200038589 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016
NM_002458.3(MUC5B):c.16442C>T (p.Thr5481Met) rs369142865 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) rs138193963 0.00016
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=) rs148632964 0.00016
NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg) rs148985828 0.00016
NM_002700.3(POU4F3):c.792C>T (p.Ser264=) rs149975083 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00016
NM_003672.4(CDC14A):c.1755+110C>G rs188557928 0.00016
NM_004004.6(GJB2):c.186C>T (p.Asn62=) rs397516869 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004100.5(EYA4):c.1739-48C>T rs148180981 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_004230.4(S1PR2):c.673G>A (p.Ala225Thr) rs143046723 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) rs201638005 0.00016
NM_004333.6(BRAF):c.483G>C (p.Leu161=) rs61730029 0.00016
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984 0.00016
NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr) rs142453905 0.00016
NM_004700.4(KCNQ4):c.735G>A (p.Gly245=) rs147751558 0.00016
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810 0.00016
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=) rs369299884 0.00016
NM_005379.4(MYO1A):c.-11C>T rs560209125 0.00016
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr) rs148582008 0.00016
NM_005548.3(KARS1):c.1438G>C (p.Glu480Gln) rs376538590 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00016
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00016
NM_006005.3(WFS1):c.1441C>T (p.Leu481=) rs727504663 0.00016
NM_006005.3(WFS1):c.2013G>A (p.Ala671=) rs147262416 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met) rs202112717 0.00016
NM_006393.3(NEBL):c.258+1G>A rs139581346 0.00016
NM_006393.3(NEBL):c.2775C>T (p.Pro925=) rs199887353 0.00016
NM_007078.3(LDB3):c.159C>T (p.Asp53=) rs200114285 0.00016
NM_007214.5(SEC63):c.340-8T>C rs1569556 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_014000.3(VCL):c.1716T>G (p.Leu572=) rs189781480 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 0.00016
NM_014391.3(ANKRD1):c.234A>T (p.Arg78Ser) rs141376679 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=) rs768299371 0.00016
NM_016239.4(MYO15A):c.4482+10C>T rs200857668 0.00016
NM_016239.4(MYO15A):c.5100C>T (p.Thr1700=) rs529758445 0.00016
NM_016239.4(MYO15A):c.5568G>A (p.Pro1856=) rs374927379 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_016239.4(MYO15A):c.6060C>T (p.Ala2020=) rs370091178 0.00016
NM_016929.5(CLIC5):c.351C>T (p.Asp117=) rs139356265 0.00016
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile) rs113542001 0.00016
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) rs146942382 0.00016
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00016
NM_020297.4(ABCC9):c.4512+765C>T rs142875103 0.00016
NM_022114.4(PRDM16):c.1578G>A (p.Pro526=) rs376747653 0.00016
NM_022124.6(CDH23):c.1581G>T (p.Gln527His) rs552906420 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.3580-13C>T rs150894638 0.00016
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022124.6(CDH23):c.6050-10C>T rs560760228 0.00016
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_031475.3(ESPN):c.2061+7G>A rs369405672 0.00016
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val) rs368795540 0.00016
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met) rs1996552 0.00016
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=) rs115239207 0.00016
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=) rs201453118 0.00016
NM_032119.4(ADGRV1):c.14575G>A (p.Gly4859Ser) rs747275713 0.00016
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=) rs371091564 0.00016
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812 0.00016
NM_033337.3(CAV3):c.144T>C (p.Pro48=) rs149287333 0.00016
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_133261.3(GIPC3):c.626G>A (p.Cys209Tyr) rs374129877 0.00016
NM_133261.3(GIPC3):c.883G>A (p.Glu295Lys) rs201853780 0.00016
NM_133379.5(TTN):c.13888C>G (p.Leu4630Val) rs139103966 0.00016
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg) rs148791107 0.00016
NM_138691.3(TMC1):c.448G>A (p.Ala150Thr) rs534560340 0.00016
NM_138691.3(TMC1):c.822G>A (p.Pro274=) rs370523728 0.00016
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949 0.00016
NM_153676.4(USH1C):c.1889T>C (p.Leu630Pro) rs377002861 0.00016
NM_153676.4(USH1C):c.2280+6del rs776356060 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 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_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540 0.00016
NM_174878.3(CLRN1):c.226T>C (p.Leu76=) rs139829306 0.00016
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys) rs199526690 0.00016
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691 0.00016
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901 0.00016
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091 0.00016
NM_194248.3(OTOF):c.2949C>T (p.Pro983=) rs200246317 0.00016
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00016
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606 0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) rs150406015 0.00016
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=) rs200247886 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000256.3(MYBPC3):c.1226+6T>C rs397515892 0.00015
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met) rs377163678 0.00015
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722 0.00015
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000260.4(MYO7A):c.3630+7A>G rs373958166 0.00015
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met) rs369768947 0.00015
NM_000260.4(MYO7A):c.5115C>T (p.Pro1705=) rs111033411 0.00015
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_000441.1(SLC26A4):c.-157G>A rs568363861 0.00015
NM_000514.4(GDNF):c.222A>G (p.Arg74=) rs139694199 0.00015
NM_000601.6(HGF):c.471A>G (p.Pro157=) rs142045938 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001018005.2(TPM1):c.115-316G>A rs397516491 0.00015
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001105206.3(LAMA4):c.1298G>A (p.Arg433His) rs369658574 0.00015
NM_001105206.3(LAMA4):c.3087C>T (p.Pro1029=) rs146880158 0.00015
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser) rs202176359 0.00015
NM_001128228.3(TPRN):c.1743C>T (p.Asn581=) rs146518581 0.00015
NM_001145809.2(MYH14):c.1210+12G>A rs367560074 0.00015
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met) rs201746408 0.00015
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=) rs534463809 0.00015
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) rs181679744 0.00015
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys) rs190192954 0.00015
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val) rs397517772 0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001369.3(DNAH5):c.4687G>A (p.Gly1563Ser) rs147567352 0.00015
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378609.3(OTOGL):c.1561A>G (p.Thr521Ala) rs187504761 0.00015
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.5502C>T (p.Ser1834=) rs372006140 0.00015
NM_001378609.3(OTOGL):c.6782-3C>T rs201877625 0.00015
NM_001384140.1(PCDH15):c.4671+1223C>T rs566386133 0.00015
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys) rs201415443 0.00015
NM_003803.4(MYOM1):c.1627G>A (p.Gly543Arg) rs370063864 0.00015
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val) rs200167311 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004006.3(DMD):c.32-14A>G rs367757761 0.00015
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr) rs146999911 0.00015
NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser) rs147962494 0.00015
NM_004817.4(TJP2):c.3407+7G>A rs369322645 0.00015
NM_004985.5(KRAS):c.-27C>T rs587781013 0.00015
NM_005159.5(ACTC1):c.-22-15C>G rs368171271 0.00015
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_005422.4(TECTA):c.2575G>A (p.Glu859Lys) rs192787819 0.00015
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) rs71526454 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_014476.6(PDLIM3):c.399-10A>G rs199979457 0.00015
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133 0.00015
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys) rs142215302 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) rs199953758 0.00015
NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys) rs372636295 0.00015
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_032229.3(SLITRK6):c.1904G>A (p.Arg635His) rs79624852 0.00015
NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly) rs541264551 0.00015
NM_144672.4(OTOA):c.1821G>A (p.Ala607=) rs143993346 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_194248.3(OTOF):c.4363-6G>A rs199567872 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473 0.00015
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_207034.3(EDN3):c.554C>T (p.Thr185Met) rs368327225 0.00015
NC_000013.11:g.20192983G>C rs906180955 0.00014
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=) rs372423505 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000169.3(GLA):c.-8C>G rs371291716 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=) rs150292548 0.00014
NM_000257.4(MYH7):c.957C>T (p.Thr319=) rs368699342 0.00014
NM_000260.4(MYO7A):c.1587C>T (p.Asn529=) rs372325609 0.00014
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000268.4(NF2):c.240+15C>T rs200701337 0.00014
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser) rs199893862 0.00014
NM_000395.3(CSF2RB):c.2431G>A (p.Glu811Lys) rs144413438 0.00014
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000432.4(MYL2):c.274+8C>T rs397516400 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00014
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226 0.00014
NM_001038603.3(MARVELD2):c.868C>T (p.Pro290Ser) rs757498916 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001105206.3(LAMA4):c.1326C>T (p.Leu442=) rs3752580 0.00014
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) rs150809897 0.00014
NM_001105206.3(LAMA4):c.3558-7T>C rs200864778 0.00014
NM_001122659.3(EDNRB):c.732G>A (p.Thr244=) rs186620070 0.00014
NM_001127453.2(GSDME):c.1183+9A>T rs397516910 0.00014
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693 0.00014
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995 0.00014
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=) rs727505095 0.00014
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) rs727505310 0.00014
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001145809.2(MYH14):c.858C>T (p.Gly286=) rs376429869 0.00014
NM_001201397.2(EDNRB):c.11G>C (p.Ser4Thr) rs201115708 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=) rs147181936 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00014
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00014
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn) rs199619070 0.00014
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604 0.00014
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00014
NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn) rs771843862 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.44282-6G>A rs372166634 0.00014
NM_001267550.2(TTN):c.49648+13T>A rs368996176 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448 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.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502 0.00014
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 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.87111G>A (p.Glu29037=) rs374902148 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.89946C>T (p.Val29982=) rs373311459 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001292063.2(OTOG):c.3359T>C (p.Leu1120Pro) rs757588809 0.00014
NM_001292063.2(OTOG):c.5051C>T (p.Pro1684Leu) rs553479177 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro) rs200116659 0.00014
NM_001330.5(CTF1):c.*5C>A rs397516644 0.00014
NM_001330691.3(CEP78):c.1214C>T (p.Pro405Leu) rs539146413 0.00014
NM_001369.3(DNAH5):c.13492-15T>C rs192514899 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr) rs78377084 0.00014
NM_001379180.1(ESRRB):c.726G>A (p.Pro242=) rs370195063 0.00014
NM_001384474.1(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213 0.00014
NM_001384474.1(LOXHD1):c.854A>G (p.Asp285Gly) rs1354495647 0.00014
NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln) rs188715129 0.00014
NM_001393500.2(TOMT):c.745A>C (p.Ile249Leu) rs727503153 0.00014
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) rs371863168 0.00014
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407 0.00014
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser) rs148962966 0.00014
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_002471.4(MYH6):c.2429+14A>C rs200817451 0.00014
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002471.4(MYH6):c.346-2A>G rs141187241 0.00014
NM_002473.6(MYH9):c.4308G>A (p.Ala1436=) rs369577944 0.00014
NM_002700.3(POU4F3):c.490C>T (p.Pro164Ser) rs372436251 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe) rs372312912 0.00014
NM_003803.4(MYOM1):c.4648+7A>G rs555598943 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr) rs151150099 0.00014
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) rs145266970 0.00014
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) rs146977269 0.00014
NM_004239.4(TRIP11):c.5719+2T>C rs199736345 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_004463.3(FGD1):c.2581-6C>T rs368589817 0.00014
NM_004985.5(KRAS):c.451-14T>C rs372508498 0.00014
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met) rs368132510 0.00014
NM_004999.4(MYO6):c.2665A>G (p.Met889Val) rs727505098 0.00014
NM_005379.4(MYO1A):c.2804T>C (p.Ile935Thr) rs372760228 0.00014
NM_005422.4(TECTA):c.1320T>C (p.Asp440=) rs141488594 0.00014
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile) rs201952240 0.00014
NM_005422.4(TECTA):c.6162C>T (p.Ile2054=) rs140608882 0.00014
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00014
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) rs142700542 0.00014
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408 0.00014
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) rs55674815 0.00014
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006393.3(NEBL):c.109_110del (p.Leu37fs) rs762005342 0.00014
NM_006393.3(NEBL):c.240C>T (p.Ile80=) rs727503337 0.00014
NM_006393.3(NEBL):c.480+11G>A rs769167750 0.00014
NM_006393.3(NEBL):c.489T>C (p.Tyr163=) rs141153708 0.00014
NM_007078.3(LDB3):c.897-14T>C rs763081924 0.00014
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln) rs141704318 0.00014
NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg) rs200378397 0.00014
NM_014000.3(VCL):c.2828_2829del (p.Pro943fs) rs781036800 0.00014
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543 0.00014
NM_015404.4(WHRN):c.2060C>T (p.Pro687Leu) rs534523640 0.00014
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr) rs201808265 0.00014
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr) rs201541616 0.00014
NM_017433.5(MYO3A):c.1207A>G (p.Ser403Gly) rs375646552 0.00014
NM_017433.5(MYO3A):c.906G>A (p.Thr302=) rs139818474 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_021116.4(ADCY1):c.984C>T (p.Leu328=) rs148862065 0.00014
NM_022114.4(PRDM16):c.1187-10G>C rs201517837 0.00014
NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met) rs200647136 0.00014
NM_022114.4(PRDM16):c.2154G>A (p.Ser718=) rs781041726 0.00014
NM_022124.6(CDH23):c.1206G>A (p.Pro402=) rs397517304 0.00014
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu) rs377222292 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr) rs375641853 0.00014
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) rs370762205 0.00014
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr) rs369142200 0.00014
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) rs142411476 0.00014
NM_030662.3(MAP2K2):c.*8C>T rs377675706 0.00014
NM_030662.4(MAP2K2):c.529-12G>A rs375701469 0.00014
NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile) rs138873805 0.00014
NM_031475.3(ESPN):c.*6G>A rs200806495 0.00014
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile) rs201677553 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg) rs774354351 0.00014
NM_032119.4(ADGRV1):c.8266G>A (p.Gly2756Arg) rs546198768 0.00014
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys) rs876657827 0.00014
NM_032229.3(SLITRK6):c.2506G>C (p.Val836Leu) rs371823033 0.00014
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
NM_053025.4(MYLK):c.3448+15G>A rs199789942 0.00014
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 0.00014
NM_080680.3(COL11A2):c.4590C>T (p.Thr1530=) rs375329541 0.00014
NM_133261.3(GIPC3):c.50C>G (p.Ala17Gly) rs876657815 0.00014
NM_144672.4(OTOA):c.3377T>C (p.Leu1126Pro) rs568139514 0.00014
NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg) rs762033637 0.00014
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494 0.00014
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059 0.00014
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005 0.00014
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849 0.00014
NM_153700.2(STRC):c.3307-5T>G rs727503446 0.00014
NM_153700.2(STRC):c.3555G>A (p.Leu1185=) rs2597064 0.00014
NM_181458.4(PAX3):c.1449C>T (p.Ile483=) rs757964568 0.00014
NM_194248.3(OTOF):c.79+12G>A rs201241987 0.00014
NM_194323.3(OTOF):c.3600C>T (p.Ile1200=) rs145899319 0.00014
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=) rs397517997 0.00014
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348 0.00014
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022 0.00013
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000257.4(MYH7):c.3726+6C>T rs377745688 0.00013
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043 0.00013
NM_000260.4(MYO7A):c.2928G>A (p.Glu976=) rs372223659 0.00013
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) rs372050452 0.00013
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val) rs397516300 0.00013
NM_000307.5(POU3F4):c.506C>T (p.Pro169Leu) rs200696740 0.00013
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849 0.00013
NM_000335.5(SCN5A):c.1891-8G>A rs12720064 0.00013
NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys) rs397517956 0.00013
NM_000337.5(SGCD):c.-378G>T rs531296131 0.00013
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg) rs142889209 0.00013
NM_000441.2(SLC26A4):c.90C>G (p.Leu30=) rs566715839 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480 0.00013
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040 0.00013
NM_001031679.3(MSRB3):c.-67G>C rs368104588 0.00013
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001039141.3(TRIOBP):c.5167C>A (p.Gln1723Lys) rs370224413 0.00013
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001128840.3(CACNA1D):c.1389T>G (p.Asn463Lys) rs150652713 0.00013
NM_001145809.2(MYH14):c.810C>T (p.Phe270=) rs374146214 0.00013
NM_001199799.2(ILDR1):c.1385G>A (p.Arg462Gln) rs200630651 0.00013
NM_001232.4(CASQ2):c.533-6C>T rs545407254 0.00013
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly) rs377063950 0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His) rs200941841 0.00013
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg) rs727504697 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=) rs141768043 0.00013
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His) rs397517573 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) rs397517600 0.00013
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=) rs371730757 0.00013
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg) rs727505316 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) rs146636599 0.00013
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln) rs375667028 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=) rs373509153 0.00013
NM_001292063.2(OTOG):c.7542C>G (p.Leu2514=) rs752641698 0.00013
NM_001292063.2(OTOG):c.8004C>T (p.Tyr2668=) rs892246727 0.00013
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met) rs188322721 0.00013
NM_001318895.3(FHL2):c.512C>T (p.Thr171Met) rs727504674 0.00013
NM_001330.5(CTF1):c.145-13C>T rs397516646 0.00013
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met) rs200980776 0.00013
NM_001379180.1(ESRRB):c.1229C>T (p.Thr410Met) rs201714970 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00013
NM_001384474.1(LOXHD1):c.5097C>T (p.Asp1699=) rs375851293 0.00013
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001386795.1(DTNA):c.1847C>T (p.Thr616Met) rs199556035 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002473.6(MYH9):c.132C>T (p.Ala44=) rs138526426 0.00013
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) rs149789202 0.00013
NM_002755.4(MAP2K1):c.726G>T (p.Val242=) rs373745627 0.00013
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_002906.4(RDX):c.778A>G (p.Ile260Val) rs138116275 0.00013
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_003803.4(MYOM1):c.4357A>T (p.Met1453Leu) rs181642354 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004006.3(DMD):c.7244G>A (p.Arg2415His) rs373749120 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004568.6(SERPINB6):c.231C>T (p.Thr77=) rs571234750 0.00013
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) rs367977493 0.00013
NM_004817.4(TJP2):c.61-7319G>C rs371868876 0.00013
NM_004999.4(MYO6):c.553+13T>A rs369806112 0.00013
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325 0.00013
NM_005219.5(DIAPH1):c.3662-14G>A rs369935242 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005379.4(MYO1A):c.881G>A (p.Arg294His) rs368189667 0.00013
NM_005411.5(SFTPA1):c.724C>T (p.Arg242Ter) rs4253528 0.00013
NM_005422.4(TECTA):c.1425G>A (p.Pro475=) rs149533095 0.00013
NM_005422.4(TECTA):c.1968C>A (p.Gly656=) rs147246652 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.2610C>T (p.Thr870=) rs727503754 0.00013
NM_006012.4(CLPP):c.555+15C>T rs371120549 0.00013
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_007078.3(LDB3):c.714C>T (p.Ala238=) rs727503125 0.00013
NM_015512.5(DNAH1):c.3432C>T (p.Ser1144=) rs534534857 0.00013
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=) rs547305039 0.00013
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_017780.4(CHD7):c.5607+11G>A rs369304706 0.00013
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=) rs375800664 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_022114.4(PRDM16):c.1363G>A (p.Gly455Ser) rs536908705 0.00013
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln) rs373011563 0.00013
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022124.6(CDH23):c.3220+5G>A rs977262704 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_030662.4(MAP2K2):c.246C>T (p.Asn82=) rs150942310 0.00013
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=) rs368233443 0.00013
NM_032119.4(ADGRV1):c.1510-7A>T rs182260529 0.00013
NM_032119.4(ADGRV1):c.18349G>A (p.Val6117Met) rs200062593 0.00013
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719 0.00013
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_057176.3(BSND):c.806G>A (p.Arg269Gln) rs199832638 0.00013
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) rs146313023 0.00013
NM_080680.3(COL11A2):c.2928G>A (p.Gly976=) rs147004824 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_133379.5(TTN):c.13103A>G (p.Glu4368Gly) rs145803192 0.00013
NM_133379.5(TTN):c.15768T>A (p.His5256Gln) rs138826545 0.00013
NM_133379.5(TTN):c.15778A>G (p.Ile5260Val) rs369214339 0.00013
NM_138691.3(TMC1):c.1225-8C>T rs375785074 0.00013
NM_170682.4(P2RX2):c.762G>A (p.Glu254=) rs144300117 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_173477.5(USH1G):c.-8C>T rs769903865 0.00013
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) rs144034147 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_203447.4(DOCK8):c.4998G>C (p.Val1666=) rs370901183 0.00013
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr) rs146980351 0.00013
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=) rs148975669 0.00013
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092 0.00012
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=) rs201040413 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) rs148310342 0.00012
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000363.5(TNNI3):c.132G>C (p.Ser44=) rs727504941 0.00012
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_001005242.3(PKP2):c.1379-2005A>G rs397516995 0.00012
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp) rs374486955 0.00012
NM_001039141.3(TRIOBP):c.6775C>T (p.Arg2259Cys) rs536411182 0.00012
NM_001080476.3(GRXCR1):c.753C>T (p.Ser251=) rs374667597 0.00012
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=) rs370629848 0.00012
NM_001098668.4(SFTPA2):c.371-13C>G rs755092596 0.00012
NM_001105206.3(LAMA4):c.521A>G (p.Tyr174Cys) rs202131320 0.00012
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys) rs369626956 0.00012
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=) rs562290651 0.00012
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_001145809.2(MYH14):c.5876G>A (p.Arg1959Gln) rs200878464 0.00012
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_001199799.2(ILDR1):c.1378G>A (p.Gly460Arg) rs559855953 0.00012
NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln) rs201593863 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.107082G>A (p.Leu35694=) rs727505278 0.00012
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr) rs374631591 0.00012
NM_001267550.2(TTN):c.1399-3C>T rs397517486 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) rs143845692 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861 0.00012
NM_001267550.2(TTN):c.24505+13C>T rs534803807 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) rs192464868 0.00012
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile) rs374394719 0.00012
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00012
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn) rs370342831 0.00012
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838 0.00012
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) rs397517667 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr) rs397517720 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00012
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met) rs201998913 0.00012
NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly) rs370436662 0.00012
NM_001292063.2(OTOG):c.2080+5G>C rs765790706 0.00012
NM_001292063.2(OTOG):c.2867+6T>G rs906307749 0.00012
NM_001292063.2(OTOG):c.7959G>A (p.Glu2653=) rs762613093 0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp) rs200752089 0.00012
NM_001354604.2(MITF):c.666+15G>C rs201698367 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_001370649.1(CLIC5):c.-55+49690T>A rs376156807 0.00012
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val) rs377282102 0.00012
NM_001378609.3(OTOGL):c.5273C>T (p.Pro1758Leu) rs372958953 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_001692.4(ATP6V1B1):c.1287G>A (p.Met429Ile) rs368854893 0.00012
NM_001692.4(ATP6V1B1):c.1298T>C (p.Val433Ala) rs149910460 0.00012
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002471.4(MYH6):c.3342+10T>C rs552662475 0.00012
NM_002473.6(MYH9):c.1212G>A (p.Ala404=) rs148832136 0.00012
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=) rs145444485 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_004100.5(EYA4):c.1739-64G>A rs143208937 0.00012
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907 0.00012
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu) rs769636686 0.00012
NM_004999.4(MYO6):c.2616G>T (p.Lys872Asn) rs139542573 0.00012
NM_004999.4(MYO6):c.441C>T (p.Ile147=) rs565770950 0.00012
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005228.5(EGFR):c.2166G>A (p.Ala722=) rs367694667 0.00012
NM_005228.5(EGFR):c.2491C>T (p.Arg831Cys) rs371228501 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_006005.3(WFS1):c.1395C>T (p.Ala465=) rs71530905 0.00012
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) rs376341411 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006012.4(CLPP):c.39G>A (p.Ala13=) rs779446991 0.00012
NM_006383.4(CIB2):c.192G>A (p.Glu64=) rs145415848 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_014000.3(VCL):c.2796T>C (p.Asp932=) rs140308982 0.00012
NM_014000.3(VCL):c.378C>T (p.Phe126=) rs148966602 0.00012
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145 0.00012
NM_016239.4(MYO15A):c.6720C>G (p.Ser2240=) rs367799231 0.00012
NM_016599.5(MYOZ2):c.76+10A>G rs372006344 0.00012
NM_016929.5(CLIC5):c.739C>T (p.Arg247Cys) rs202022202 0.00012
NM_020297.4(ABCC9):c.2339+13A>G rs189255166 0.00012
NM_021116.4(ADCY1):c.2338G>A (p.Val780Ile) rs140746527 0.00012
NM_024009.3(GJB3):c.372C>T (p.His124=) rs145436095 0.00012
NM_024915.4(GRHL2):c.1690A>T (p.Met564Leu) rs200592171 0.00012
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro) rs200805176 0.00012
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545 0.00012
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp) rs369126897 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_133379.5(TTN):c.12153C>T (p.Asp4051=) rs200304872 0.00012
NM_144991.3(TSPEAR):c.138C>T (p.Ser46=) rs781956758 0.00012
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216 0.00012
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130 0.00012
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=) rs369778429 0.00012
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315 0.00011
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346 0.00011
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile) rs876657869 0.00011
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr) rs397516015 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000257.4(MYH7):c.345C>T (p.Tyr115=) rs149439730 0.00011
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr) rs372727092 0.00011
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523 0.00011
NM_000260.4(MYO7A):c.1798-11C>T rs782146561 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000260.4(MYO7A):c.3375+14C>A rs782500012 0.00011
NM_000260.4(MYO7A):c.4568+13G>A rs532356676 0.00011
NM_000260.4(MYO7A):c.639C>T (p.Phe213=) rs540197003 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000432.4(MYL2):c.33G>A (p.Gly11=) rs199742269 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000542.5(SFTPB):c.708C>T (p.Arg236=) rs367661082 0.00011
NM_000601.6(HGF):c.1934A>G (p.His645Arg) rs202215700 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001018116.2(CAVIN4):c.-10A>T rs369755712 0.00011
NM_001031679.3(MSRB3):c.234A>G (p.Lys78=) rs143333399 0.00011
NM_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His) rs746541677 0.00011
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718 0.00011
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) rs397516720 0.00011
NM_001128840.3(CACNA1D):c.132T>C (p.Asn44=) rs377363390 0.00011
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp) rs549755324 0.00011
NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser) rs765091855 0.00011
NM_001199799.2(ILDR1):c.972C>T (p.Val324=) rs138334785 0.00011
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001243133.2(NLRP3):c.906C>T (p.Phe302=) rs756989752 0.00011
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350 0.00011
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr) rs727504609 0.00011
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr) rs112266780 0.00011
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218 0.00011
NM_001267550.2(TTN):c.15775+14C>T rs151057960 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.19715-4A>G rs375009631 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.25065G>A (p.Ala8355=) rs397517514 0.00011
NM_001267550.2(TTN):c.27915A>G (p.Arg9305=) rs367900368 0.00011
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln) rs779015756 0.00011
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=) rs369095270 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) rs199834143 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001267550.2(TTN):c.51437-9G>A rs183060991 0.00011
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) rs116142642 0.00011
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu) rs201194435 0.00011
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743 0.00011
NM_001267550.2(TTN):c.59081G>A (p.Cys19694Tyr) rs727505276 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=) rs201380749 0.00011
NM_001267550.2(TTN):c.75833G>A (p.Arg25278His) rs769729114 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.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn) rs376679796 0.00011
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu) rs370541682 0.00011
NM_001267550.2(TTN):c.95083G>A (p.Gly31695Arg) rs376403373 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr) rs876658096 0.00011
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala) rs556720151 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_001292063.2(OTOG):c.1051G>A (p.Ala351Thr) rs756177290 0.00011
NM_001292063.2(OTOG):c.783G>T (p.Met261Ile) rs118083195 0.00011
NM_001318895.3(FHL2):c.192C>T (p.Ala64=) rs199943518 0.00011
NM_001363118.2(SLC52A2):c.1209G>A (p.Pro403=) rs374612342 0.00011
NM_001363118.2(SLC52A2):c.822C>A (p.Ala274=) rs145009003 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001379180.1(ESRRB):c.1147G>A (p.Ala383Thr) rs553650212 0.00011
NM_001379180.1(ESRRB):c.876C>T (p.Asp292=) rs201417586 0.00011
NM_001384140.1(PCDH15):c.4671+1355A>G rs372184022 0.00011
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_002230.4(JUP):c.1989C>T (p.Arg663=) rs145175985 0.00011
NM_002458.3(MUC5B):c.3189C>T (p.Asp1063=) rs77996005 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00011
NM_002471.4(MYH6):c.2464G>A (p.Ala822Thr) rs138419275 0.00011
NM_002471.4(MYH6):c.2805C>T (p.Asn935=) rs757958461 0.00011
NM_002471.4(MYH6):c.5662-6C>T rs183733802 0.00011
NM_002473.6(MYH9):c.1980G>A (p.Thr660=) rs200975323 0.00011
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met) rs758626716 0.00011
NM_002473.6(MYH9):c.5277C>T (p.Ile1759=) rs183105164 0.00011
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002880.4(RAF1):c.1537-13G>A rs369039413 0.00011
NM_002906.4(RDX):c.1154A>C (p.Glu385Ala) rs146713867 0.00011
NM_002906.4(RDX):c.256C>G (p.Pro86Ala) rs376418131 0.00011
NM_002906.4(RDX):c.471A>G (p.Val157=) rs376917034 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004447.6(EPS8):c.2313G>A (p.Ala771=) rs761418186 0.00011
NM_004568.6(SERPINB6):c.946G>A (p.Val316Met) rs550855004 0.00011
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_004700.4(KCNQ4):c.909C>T (p.Phe303=) rs773015201 0.00011
NM_004999.4(MYO6):c.3393A>G (p.Pro1131=) rs768505655 0.00011
NM_004999.4(MYO6):c.600C>T (p.Asn200=) rs145665265 0.00011
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys) rs143132980 0.00011
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=) rs750444501 0.00011
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser) rs370849059 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005379.4(MYO1A):c.92G>A (p.Arg31His) rs727504447 0.00011
NM_005411.5(SFTPA1):c.577C>T (p.Pro193Ser) rs139806726 0.00011
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_005548.3(KARS1):c.-1G>T rs374675852 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) rs188848517 0.00011
NM_006012.4(CLPP):c.667G>A (p.Ala223Thr) rs377653992 0.00011
NM_006073.4(TRDN):c.129G>A (p.Thr43=) rs373840513 0.00011
NM_006073.4(TRDN):c.793+27G>A rs189106156 0.00011
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_013296.5(GPSM2):c.1670G>A (p.Arg557His) rs148266178 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) rs200073414 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_016239.4(MYO15A):c.4461C>T (p.Asn1487=) rs201076604 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_017433.5(MYO3A):c.1525T>C (p.Tyr509His) rs150793986 0.00011
NM_020297.4(ABCC9):c.3288T>C (p.Phe1096=) rs377372612 0.00011
NM_020297.4(ABCC9):c.96C>T (p.Val32=) rs727505034 0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_022114.4(PRDM16):c.1709C>T (p.Thr570Met) rs138655327 0.00011
NM_022124.6(CDH23):c.1227G>A (p.Ala409=) rs371212430 0.00011
NM_022124.6(CDH23):c.1449+43C>T rs550931640 0.00011
NM_022124.6(CDH23):c.1450-4G>A rs374549358 0.00011
NM_022124.6(CDH23):c.1514+6A>G rs367949981 0.00011
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu) rs201584731 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_023036.6(DNAI2):c.*13G>A rs751438337 0.00011
NM_024747.6(HPS6):c.2238A>G (p.Gln746=) rs371739854 0.00011
NM_024915.4(GRHL2):c.641G>A (p.Ser214Asn) rs199931364 0.00011
NM_024915.4(GRHL2):c.849C>T (p.Thr283=) rs138628340 0.00011
NM_030662.4(MAP2K2):c.981C>T (p.Asn327=) rs143275018 0.00011
NM_032119.4(ADGRV1):c.10293C>T (p.Asn3431=) rs763452527 0.00011
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=) rs373354231 0.00011
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054 0.00011
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=) rs201983595 0.00011
NM_032119.4(ADGRV1):c.7294G>A (p.Val2432Met) rs111033531 0.00011
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517 0.00011
NM_033118.4(MYLK2):c.281C>T (p.Pro94Leu) rs201134349 0.00011
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln) rs199861879 0.00011
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_133379.5(TTN):c.15608T>C (p.Ile5203Thr) rs200376564 0.00011
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu) rs149947445 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_144573.4(NEXN):c.688-10G>A rs370574269 0.00011
NM_144991.3(TSPEAR):c.1690G>A (p.Val564Ile) rs150792705 0.00011
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_153676.4(USH1C):c.2538C>T (p.Asp846=) rs143860238 0.00011
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln) rs558663132 0.00011
NM_153700.2(STRC):c.3817T>C (p.Ser1273Pro) rs144626173 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=) rs370128838 0.00011
NM_181458.4(PAX3):c.958+9G>A rs185119406 0.00011
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784 0.00011
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00011
NM_194248.3(OTOF):c.328-11C>T rs369879663 0.00011
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321 0.00011
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) rs144562626 0.00011
NM_201384.3(PLEC):c.5825C>T (p.Ala1942Val) rs372179538 0.00011
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) rs372015149 0.00011
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=) rs200287425 0.00011
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln) rs190170807 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_213569.2(NEBL):c.69+15G>T rs377648518 0.00011
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000256.3(MYBPC3):c.402C>T (p.Pro134=) rs397516046 0.00010
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) rs377520770 0.00010
NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln) rs374630007 0.00010
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) rs370104824 0.00010
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131 0.00010
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr) rs374576916 0.00010
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) rs376301325 0.00010
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354 0.00010
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220 0.00010
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000432.4(MYL2):c.274+9G>A rs371405579 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000601.6(HGF):c.258T>C (p.Ala86=) rs370202240 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_000720.4(CACNA1D):c.1504G>A (p.Ala502Thr) rs773409037 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001018116.2(CAVIN4):c.939G>A (p.Glu313=) rs778284038 0.00010
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=) rs368103385 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=) rs570566104 0.00010
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys) rs146177203 0.00010
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) rs118203989 0.00010
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=) rs191631773 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp) rs151119304 0.00010
NM_001105206.3(LAMA4):c.1551+4C>T rs201209516 0.00010
NM_001105206.3(LAMA4):c.3819C>T (p.Phe1273=) rs138232283 0.00010
NM_001127453.2(GSDME):c.830C>T (p.Ser277Phe) rs375794218 0.00010
NM_001127453.2(GSDME):c.87T>A (p.Asp29Glu) rs148370267 0.00010
NM_001128840.3(CACNA1D):c.3115-3C>T rs779910083 0.00010
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr) rs759409255 0.00010
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387 0.00010
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp) rs376267080 0.00010
NM_001145809.2(MYH14):c.3475G>T (p.Asp1159Tyr) rs370256265 0.00010
NM_001145809.2(MYH14):c.5990C>T (p.Thr1997Met) rs201986144 0.00010
NM_001170.3(AQP7):c.640G>A (p.Gly214Arg) rs114484742 0.00010
NM_001171613.2(PREPL):c.1747G>C (p.Gly583Arg) rs758234210 0.00010
NM_001199799.2(ILDR1):c.794C>T (p.Ser265Phe) rs146027039 0.00010
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) rs372521529 0.00010
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=) rs369896045 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys) rs727504586 0.00010
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu) rs201565932 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met) rs201506104 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.18680C>T (p.Pro6227Leu) rs376846228 0.00010
NM_001267550.2(TTN):c.2151C>T (p.Pro717=) rs374570732 0.00010
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His) rs397517510 0.00010
NM_001267550.2(TTN):c.26144G>A (p.Cys8715Tyr) rs183499397 0.00010
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=) rs370973715 0.00010
NM_001267550.2(TTN):c.31762+4C>T rs368538884 0.00010
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile) rs397517566 0.00010
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655 0.00010
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn) rs192962624 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.84448T>C (p.Tyr28150His) rs397517727 0.00010
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 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_001292063.2(OTOG):c.2486+7G>A rs774905533 0.00010
NM_001292063.2(OTOG):c.3017A>T (p.Asp1006Val) rs551850126 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001292063.2(OTOG):c.7810C>T (p.Arg2604Cys) rs876657944 0.00010
NM_001292063.2(OTOG):c.94+76C>T rs568988885 0.00010
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_001330.5(CTF1):c.144+7G>T rs374359365 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378609.3(OTOGL):c.214T>C (p.Trp72Arg) rs369473810 0.00010
NM_001378609.3(OTOGL):c.6882C>T (p.Asp2294=) rs751285103 0.00010
NM_001379180.1(ESRRB):c.*7C>T rs374018995 0.00010
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259 0.00010
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=) rs144955298 0.00010
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976 0.00010
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg) rs370816148 0.00010
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser) rs769490340 0.00010
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151 0.00010
NM_001386795.1(DTNA):c.1086-321A>C rs191973037 0.00010
NM_001692.4(ATP6V1B1):c.422C>T (p.Ala141Val) rs372842500 0.00010
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) rs141969350 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_001971.6(CELA1):c.7_8del (p.Val3fs) rs1491233894 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp) rs142059069 0.00010
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_002471.4(MYH6):c.3343-3C>A rs565446762 0.00010
NM_002471.4(MYH6):c.5514G>T (p.Ser1838=) rs727503232 0.00010
NM_002473.6(MYH9):c.1149C>T (p.Thr383=) rs143974891 0.00010
NM_002880.4(RAF1):c.935T>C (p.Val312Ala) rs370243307 0.00010
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) rs141505676 0.00010
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_003573.2(LTBP4):c.254del (p.Leu85fs) rs747013505 0.00010
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser) rs200213555 0.00010
NM_004006.3(DMD):c.7596C>T (p.Thr2532=) rs778412539 0.00010
NM_004230.4(S1PR2):c.729C>T (p.Ile243=) rs148315102 0.00010
NM_004333.6(BRAF):c.1632T>C (p.Ile544=) rs149702741 0.00010
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_004415.4(DSP):c.8493G>C (p.Ser2831=) rs397516969 0.00010
NM_004447.6(EPS8):c.670G>A (p.Val224Ile) rs758506896 0.00010
NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=) rs140945833 0.00010
NM_004817.4(TJP2):c.2880+72G>A rs397516632 0.00010
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005219.5(DIAPH1):c.3574+6G>C rs538555634 0.00010
NM_005228.5(EGFR):c.2457G>A (p.Val819=) rs56183713 0.00010
NM_005379.4(MYO1A):c.48G>T (p.Leu16=) rs201000642 0.00010
NM_005422.4(TECTA):c.3315C>T (p.Tyr1105=) rs142573400 0.00010
NM_005472.5(KCNE3):c.158G>A (p.Arg53His) rs565287436 0.00010
NM_005548.3(KARS1):c.1275T>C (p.Asp425=) rs779241883 0.00010
NM_005548.3(KARS1):c.1551+10G>A rs367722503 0.00010
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_006012.4(CLPP):c.100C>T (p.Pro34Ser) rs776759641 0.00010
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) rs371627659 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_014000.3(VCL):c.688C>T (p.Arg230Cys) rs139312390 0.00010
NM_015404.4(WHRN):c.1625G>A (p.Arg542Lys) rs200040563 0.00010
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu) rs189654215 0.00010
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_015404.4(WHRN):c.409G>C (p.Glu137Gln) rs41297175 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_016239.4(MYO15A):c.3866+12G>A rs533500962 0.00010
NM_016239.4(MYO15A):c.9494G>A (p.Arg3165Gln) rs780281329 0.00010
NM_020297.4(ABCC9):c.852T>A (p.Ser284=) rs113562970 0.00010
NM_022114.4(PRDM16):c.714C>A (p.Leu238=) rs371540074 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519 0.00010
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.8856G>A (p.Arg2952=) rs377598904 0.00010
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024915.4(GRHL2):c.1416T>C (p.Pro472=) rs371708806 0.00010
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys) rs183319660 0.00010
NM_032119.4(ADGRV1):c.11581-2dup rs745783842 0.00010
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) rs200530343 0.00010
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr) rs201180985 0.00010
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144 0.00010
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) rs202128855 0.00010
NM_080680.3(COL11A2):c.1179+8A>T rs773318336 0.00010
NM_080680.3(COL11A2):c.2528C>T (p.Thr843Met) rs770007946 0.00010
NM_080680.3(COL11A2):c.798+38C>A rs200989046 0.00010
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246 0.00010
NM_133379.5(TTN):c.10410C>T (p.Asp3470=) rs727505183 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_133379.5(TTN):c.16075A>G (p.Met5359Val) rs372044281 0.00010
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln) rs148147002 0.00010
NM_138691.3(TMC1):c.1030-3C>T rs370872111 0.00010
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter) rs150738413 0.00010
NM_144672.4(OTOA):c.396C>T (p.Gly132=) rs147717988 0.00010
NM_145309.6(LRTOMT):c.253G>A (p.Asp85Asn) rs151016482 0.00010
NM_152594.3(SPRED1):c.177T>C (p.Phe59=) rs397517871 0.00010
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_153700.2(STRC):c.4845C>T (p.Ser1615=) rs184909019 0.00010
NM_170707.4(LMNA):c.*6G>A rs397517885 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00010
NM_194248.3(OTOF):c.5128A>C (p.Met1710Leu) rs368639052 0.00010
NM_194248.3(OTOF):c.5813+15G>A rs371649088 0.00010
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682 0.00010
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser) rs143898511 0.00010
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met) rs200570742 0.00010
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_206933.4(USH2A):c.6958-5C>T rs147914083 0.00010
NM_213569.2(NEBL):c.165-6C>G rs201869237 0.00010
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val) rs370362589 0.00009
NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp) rs375116558 0.00009
NM_000257.4(MYH7):c.2091T>C (p.Gly697=) rs140380523 0.00009
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys) rs145677314 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029 0.00009
NM_000260.4(MYO7A):c.2091G>A (p.Lys697=) rs768972429 0.00009
NM_000260.4(MYO7A):c.3750+7G>A rs397516305 0.00009
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376 0.00009
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00009
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557 0.00009
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) rs397516328 0.00009
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_000335.5(SCN5A):c.3618C>T (p.Phe1206=) rs184934308 0.00009
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) rs192057022 0.00009
NM_000432.4(MYL2):c.374C>T (p.Thr125Met) rs375667565 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000441.2(SLC26A4):c.61A>G (p.Met21Val) rs375716219 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174 0.00009
NM_000687.4(AHCY):c.100C>T (p.Arg34Cys) rs145239391 0.00009
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001018004.2(TPM1):c.773-1187G>A rs144451403 0.00009
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) rs149659674 0.00009
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.5754C>T (p.Val1918=) rs397516545 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001039141.3(TRIOBP):c.5529G>A (p.Thr1843=) rs531565607 0.00009
NM_001039141.3(TRIOBP):c.6324+177G>A rs150061404 0.00009
NM_001039141.3(TRIOBP):c.6961T>C (p.Tyr2321His) rs727503530 0.00009
NM_001039876.3(SYNE4):c.789A>G (p.Gln263=) rs557057979 0.00009
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042702.5(PJVK):c.405A>C (p.Thr135=) rs373800401 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=) rs374605569 0.00009
NM_001089.3(ABCA3):c.4617C>T (p.Asp1539=) rs369494610 0.00009
NM_001103.4(ACTN2):c.165C>T (p.Ala55=) rs193922634 0.00009
NM_001105206.3(LAMA4):c.5442C>T (p.Ala1814=) rs200300118 0.00009
NM_001145809.2(MYH14):c.693+12C>T rs370673291 0.00009
NM_001145809.2(MYH14):c.693C>T (p.Pro231=) rs373744231 0.00009
NM_001164465.3(GOLGA6L10):c.1154G>A (p.Arg385Gln) rs201670904 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001199107.2(TBC1D24):c.1302+14A>C rs528462687 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00009
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) rs773237428 0.00009
NM_001256317.3(TMPRSS3):c.300C>T (p.Asp100=) rs146621712 0.00009
NM_001256317.3(TMPRSS3):c.616+5G>A rs138768408 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.13884C>T (p.Ser4628=) rs183328495 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.18307+12A>G rs376899412 0.00009
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=) rs375022009 0.00009
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln) rs727504757 0.00009
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) rs368777046 0.00009
NM_001267550.2(TTN):c.33418+12C>A rs199772748 0.00009
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe) rs551911856 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.41982T>C (p.Pro13994=) rs777609108 0.00009
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) rs369959066 0.00009
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=) rs369800903 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.50480G>A (p.Arg16827Gln) rs138896856 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu) rs369648778 0.00009
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 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.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.59073T>C (p.Asp19691=) rs775577598 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.64005G>A (p.Glu21335=) rs749889687 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001267550.2(TTN):c.68605G>A (p.Gly22869Ser) rs876658078 0.00009
NM_001267550.2(TTN):c.79072G>A (p.Val26358Ile) rs774747865 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001267550.2(TTN):c.83820C>T (p.Asn27940=) rs727503555 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=) rs531445644 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.93292G>A (p.Val31098Ile) rs760282296 0.00009
NM_001267550.2(TTN):c.98203A>G (p.Ile32735Val) rs761246331 0.00009
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val) rs141837529 0.00009
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=) rs397516481 0.00009
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) rs376923877 0.00009
NM_001292063.2(OTOG):c.2294-7A>G rs200998174 0.00009
NM_001292063.2(OTOG):c.4826C>T (p.Pro1609Leu) rs937557181 0.00009
NM_001292063.2(OTOG):c.4896G>A (p.Thr1632=) rs143785785 0.00009
NM_001292063.2(OTOG):c.7585+11C>T rs369343034 0.00009
NM_001292063.2(OTOG):c.7693+11G>A rs976807214 0.00009
NM_001318895.3(FHL2):c.392G>A (p.Arg131His) rs371421189 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_001371333.1(DIABLO):c.175A>G (p.Ile59Val) rs574777883 0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378609.3(OTOGL):c.4446T>C (p.Tyr1482=) rs376273459 0.00009
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00009
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile) rs80358231 0.00009
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066 0.00009
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His) rs184173766 0.00009
NM_001384474.1(LOXHD1):c.3471C>T (p.Gly1157=) rs727503141 0.00009
NM_001384474.1(LOXHD1):c.5085+6G>A rs373466081 0.00009
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser) rs775871086 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_001692.4(ATP6V1B1):c.1061-13A>G rs200724195 0.00009
NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr) rs781981910 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770 0.00009
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) rs780726611 0.00009
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys) rs201021615 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu) rs727504436 0.00009
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) rs149201422 0.00009
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile) rs767932680 0.00009
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_003803.4(MYOM1):c.1466A>G (p.Tyr489Cys) rs369422118 0.00009
NM_003803.4(MYOM1):c.2137C>T (p.Arg713Cys) rs375858580 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004006.3(DMD):c.3270G>A (p.Gln1090=) rs373475857 0.00009
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser) rs876657778 0.00009
NM_004085.4(TIMM8A):c.15C>T (p.Ser5=) rs369736736 0.00009
NM_004100.5(EYA4):c.9C>T (p.Asp3=) rs374322196 0.00009
NM_004230.4(S1PR2):c.558C>T (p.Tyr186=) rs199954220 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.3981C>T (p.Ile1327=) rs397516934 0.00009
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr) rs191778417 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004447.6(EPS8):c.589G>A (p.Asp197Asn) rs150255928 0.00009
NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=) rs552843990 0.00009
NM_004817.4(TJP2):c.2859G>T (p.Ser953=) rs369972534 0.00009
NM_005188.4(CBL):c.2223G>A (p.Ala741=) rs202229538 0.00009
NM_005219.5(DIAPH1):c.1397-14C>T rs201444168 0.00009
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414 0.00009
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=) rs189900453 0.00009
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly) rs184810732 0.00009
NM_005422.4(TECTA):c.2574C>T (p.Asp858=) rs150564356 0.00009
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile) rs773192982 0.00009
NM_005548.3(KARS1):c.1448C>G (p.Thr483Ser) rs200645820 0.00009
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157 0.00009
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006016.6(CD164):c.330C>T (p.Ser110=) rs199887608 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006393.3(NEBL):c.120A>G (p.Glu40=) rs397517203 0.00009
NM_007078.3(LDB3):c.1071T>A (p.Pro357=) rs143823978 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_007078.3(LDB3):c.493C>T (p.Arg165Trp) rs45610637 0.00009
NM_012120.3(CD2AP):c.902A>T (p.Lys301Met) rs141778404 0.00009
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222 0.00009
NM_014000.3(VCL):c.1290C>T (p.Asp430=) rs576271894 0.00009
NM_014000.3(VCL):c.2142C>T (p.Asp714=) rs373790383 0.00009
NM_014000.3(VCL):c.2799G>A (p.Ala933=) rs199507346 0.00009
NM_014000.3(VCL):c.3066C>T (p.Ile1022=) rs138619320 0.00009
NM_015404.4(WHRN):c.1222C>A (p.Pro408Thr) rs368241259 0.00009
NM_015404.4(WHRN):c.1611C>T (p.Thr537=) rs201280818 0.00009
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=) rs376450705 0.00009
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=) rs397517276 0.00009
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala) rs376432083 0.00009
NM_016239.4(MYO15A):c.1047C>T (p.Tyr349=) rs567657743 0.00009
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly) rs200041829 0.00009
NM_016239.4(MYO15A):c.5964+3G>C rs530975087 0.00009
NM_016239.4(MYO15A):c.642C>T (p.Phe214=) rs766970263 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg) rs201542989 0.00009
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His) rs377389290 0.00009
NM_016599.5(MYOZ2):c.303G>A (p.Ser101=) rs527258961 0.00009
NM_017827.4(SARS2):c.589+9C>T rs747815067 0.00009
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_021116.4(ADCY1):c.1406A>G (p.His469Arg) rs1055365568 0.00009
NM_021116.4(ADCY1):c.2187T>C (p.His729=) rs145126980 0.00009
NM_021803.4(IL21):c.127A>T (p.Ile43Leu) rs374097344 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_022114.4(PRDM16):c.2856G>A (p.Thr952=) rs563342786 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957 0.00009
NM_022124.6(CDH23):c.2854G>A (p.Glu952Lys) rs370554545 0.00009
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met) rs397517319 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_022124.6(CDH23):c.7361C>T (p.Thr2454Met) rs772949926 0.00009
NM_022124.6(CDH23):c.825C>T (p.Ile275=) rs376436182 0.00009
NM_022124.6(CDH23):c.8499C>T (p.Arg2833=) rs397517358 0.00009
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His) rs199668532 0.00009
NM_022124.6(CDH23):c.8829G>A (p.Thr2943=) rs369023265 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022124.6(CDH23):c.9413G>A (p.Arg3138Gln) rs372676235 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) rs794728063 0.00009
NM_030662.4(MAP2K2):c.*9G>A rs397517410 0.00009
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe) rs199502924 0.00009
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val) rs761066341 0.00009
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_032119.4(ADGRV1):c.16079-11C>G rs374007277 0.00009
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu) rs373862154 0.00009
NM_032119.4(ADGRV1):c.6925G>A (p.Ala2309Thr) rs201528839 0.00009
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu) rs200179979 0.00009
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile) rs547397177 0.00009
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu) rs200503628 0.00009
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu) rs201245117 0.00009
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=) rs367881384 0.00009
NM_080680.3(COL11A2):c.1666-9T>G rs181999673 0.00009
NM_080680.3(COL11A2):c.2628+14G>A rs559123089 0.00009
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) rs372250466 0.00009
NM_133261.3(GIPC3):c.871G>A (p.Ala291Thr) rs199951984 0.00009
NM_133379.5(TTN):c.13589T>G (p.Ile4530Arg) rs200066725 0.00009
NM_133379.5(TTN):c.13746A>G (p.Gln4582=) rs201945197 0.00009
NM_133379.5(TTN):c.16016A>G (p.Asp5339Gly) rs372997814 0.00009
NM_138691.3(TMC1):c.1846G>A (p.Val616Ile) rs376422017 0.00009
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_144573.4(NEXN):c.392A>G (p.Gln131Arg) rs397517858 0.00009
NM_144573.4(NEXN):c.949A>C (p.Met317Leu) rs559464457 0.00009
NM_144585.4(SLC22A12):c.269G>A (p.Arg90His) rs121907896 0.00009
NM_144672.4(OTOA):c.180-12C>T rs776210902 0.00009
NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly) rs767518359 0.00009
NM_144991.3(TSPEAR):c.411G>A (p.Thr137=) rs140923114 0.00009
NM_153676.4(USH1C):c.1731G>A (p.Pro577=) rs199572804 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193 0.00009
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) rs371856107 0.00009
NM_170707.4(LMNA):c.150C>T (p.Arg50=) rs397517894 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_194248.3(OTOF):c.2542G>A (p.Asp848Asn) rs147865867 0.00009
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg) rs146615166 0.00009
NM_194248.3(OTOF):c.5523C>T (p.Asp1841=) rs145894536 0.00009
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=) rs369335995 0.00009
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390 0.00009
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=) rs138064171 0.00009
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=) rs768759268 0.00009
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=) rs143683292 0.00009
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144 0.00009
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478 0.00008
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=) rs373227792 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282 0.00008
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=) rs397516085 0.00008
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000258.3(MYL3):c.516G>A (p.Leu172=) rs367761724 0.00008
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224 0.00008
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928 0.00008
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00008
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) rs372311564 0.00008
NM_000335.5(SCN5A):c.2268C>T (p.Phe756=) rs372271677 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=) rs371686822 0.00008
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000337.6(SGCD):c.-59G>A rs375477247 0.00008
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr) rs72654426 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000455.5(STK11):c.920+5G>A rs587780013 0.00008
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344 0.00008
NM_001005242.3(PKP2):c.888C>T (p.His296=) rs397517029 0.00008
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001006630.2(CHRM2):c.703C>A (p.Leu235Met) rs138886480 0.00008
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201 0.00008
NM_001035.3(RYR2):c.13329-11T>G rs778172821 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360 0.00008
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00008
NM_001035.3(RYR2):c.9891G>A (p.Lys3297=) rs368661838 0.00008
NM_001038603.3(MARVELD2):c.288C>A (p.Asp96Glu) rs73113102 0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001105206.3(LAMA4):c.4305T>C (p.Asp1435=) rs147800037 0.00008
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr) rs727504595 0.00008
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001134363.3(RBM20):c.3279C>T (p.Asp1093=) rs1003478669 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001145809.2(MYH14):c.2600G>A (p.Arg867His) rs547836952 0.00008
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser) rs200272339 0.00008
NM_001146079.2(CLDN14):c.369C>A (p.Thr123=) rs727502938 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001256317.3(TMPRSS3):c.1020G>A (p.Thr340=) rs374149338 0.00008
NM_001256317.3(TMPRSS3):c.1155C>T (p.Cys385=) rs746293388 0.00008
NM_001267550.2(TTN):c.103524C>T (p.Val34508=) rs587780985 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963 0.00008
NM_001267550.2(TTN):c.1365G>A (p.Thr455=) rs145211131 0.00008
NM_001267550.2(TTN):c.17075T>C (p.Val5692Ala) rs570039271 0.00008
NM_001267550.2(TTN):c.2776-14T>C rs201611946 0.00008
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu) rs55940667 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759 0.00008
NM_001267550.2(TTN):c.99460C>T (p.Arg33154Cys) rs143556947 0.00008
NM_001267550.2(TTN):c.99668G>A (p.Arg33223His) rs369081242 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001292063.2(OTOG):c.8541+5G>A rs754883697 0.00008
NM_001354604.2(MITF):c.537C>T (p.Asn179=) rs150591206 0.00008
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974 0.00008
NM_001370649.1(CLIC5):c.-55+49314C>T rs759950763 0.00008
NM_001378609.3(OTOGL):c.2877T>C (p.Phe959=) rs369730291 0.00008
NM_001378609.3(OTOGL):c.6832A>G (p.Arg2278Gly) rs372725776 0.00008
NM_001379180.1(ESRRB):c.177G>A (p.Ser59=) rs781612689 0.00008
NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val) rs528723972 0.00008
NM_001384140.1(PCDH15):c.92-10C>T rs202223952 0.00008
NM_001384474.1(LOXHD1):c.210G>T (p.Glu70Asp) rs876657859 0.00008
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00008
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001614.5(ACTG1):c.-1A>G rs781801921 0.00008
NM_001614.5(ACTG1):c.669C>T (p.Phe223=) rs373099591 0.00008
NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=) rs782329243 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002230.4(JUP):c.891C>T (p.Tyr297=) rs397517302 0.00008
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu) rs371859345 0.00008
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu) rs778319108 0.00008
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp) rs527571090 0.00008
NM_002473.6(MYH9):c.5694C>T (p.Arg1898=) rs559732738 0.00008
NM_003803.4(MYOM1):c.3413G>A (p.Arg1138His) rs148782330 0.00008
NM_003803.4(MYOM1):c.3665A>G (p.Tyr1222Cys) rs748819463 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_004817.4(TJP2):c.2970A>G (p.Ala990=) rs727503481 0.00008
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 0.00008
NM_005379.4(MYO1A):c.3091A>G (p.Lys1031Glu) rs371613423 0.00008
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_006005.3(WFS1):c.2103C>T (p.Thr701=) rs113800346 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_006393.3(NEBL):c.259-13T>G rs923819811 0.00008
NM_006941.4(SOX10):c.1125C>T (p.Thr375=) rs147817756 0.00008
NM_007289.4(MME):c.1342C>T (p.Arg448Ter) rs149905705 0.00008
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr) rs572757800 0.00008
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg) rs373010557 0.00008
NM_014000.3(VCL):c.3333T>C (p.Ala1111=) rs147415627 0.00008
NM_015340.4(LARS2):c.1861+7A>G rs369084897 0.00008
NM_016239.4(MYO15A):c.1418T>G (p.Leu473Arg) rs370497397 0.00008
NM_016239.4(MYO15A):c.4038+6_4038+7del rs1491110483 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_016239.4(MYO15A):c.4807C>T (p.Leu1603=) rs368865502 0.00008
NM_017433.5(MYO3A):c.4846T>C (p.Ser1616Pro) rs767228097 0.00008
NM_017780.4(CHD7):c.8412G>A (p.Ala2804=) rs200747690 0.00008
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) rs372889781 0.00008
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=) rs377156300 0.00008
NM_020297.4(ABCC9):c.3993C>T (p.His1331=) rs377704379 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00008
NM_022124.6(CDH23):c.2059+6G>A rs727502923 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) rs397517344 0.00008
NM_022124.6(CDH23):c.6637G>A (p.Gly2213Ser) rs375900265 0.00008
NM_022124.6(CDH23):c.856C>T (p.Leu286=) rs727502918 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_030662.4(MAP2K2):c.258C>A (p.Val86=) rs148437150 0.00008
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_030662.4(MAP2K2):c.939G>T (p.Arg313=) rs397517417 0.00008
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg) rs369717492 0.00008
NM_032119.4(ADGRV1):c.8265C>T (p.Ser2755=) rs371820414 0.00008
NM_032119.4(ADGRV1):c.9888G>A (p.Gly3296=) rs372603399 0.00008
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala) rs753618520 0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690 0.00008
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala) rs531015124 0.00008
NM_033337.3(CAV3):c.444G>A (p.Arg148=) rs376749605 0.00008
NM_033360.4(KRAS):c.5-11A>G rs369047577 0.00008
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) rs749966154 0.00008
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys) rs752552097 0.00008
NM_133261.3(GIPC3):c.57G>T (p.Ala19=) rs754337950 0.00008
NM_133261.3(GIPC3):c.639G>A (p.Ala213=) rs371566042 0.00008
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln) rs562658562 0.00008
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala) rs200760091 0.00008
NM_138691.3(TMC1):c.2129+15T>A rs747921456 0.00008
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) rs140537845 0.00008
NM_144672.4(OTOA):c.446C>A (p.Ala149Asp) rs113820086 0.00008
NM_144991.3(TSPEAR):c.673G>A (p.Ala225Thr) rs146216896 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251 0.00008
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln) rs397517883 0.00008
NM_153700.2(STRC):c.4260G>A (p.Lys1420=) rs140545217 0.00008
NM_170682.4(P2RX2):c.1219G>A (p.Gly407Ser) rs199712315 0.00008
NM_170682.4(P2RX2):c.964G>A (p.Gly322Arg) rs201474543 0.00008
NM_181458.4(PAX3):c.561C>G (p.Ser187Arg) rs375978379 0.00008
NM_182548.4(LHFPL5):c.411G>A (p.Ala137=) rs140326236 0.00008
NM_203447.4(DOCK8):c.3543A>G (p.Val1181=) rs753242273 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys) rs140548353 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682 0.00008
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698 0.00008
NM_206965.2(FTCD):c.1098+15A>G rs1060499859 0.00008
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197 0.00008
NM_212550.5(BLOC1S3):c.92C>T (p.Ala31Val) rs148910210 0.00008
NM_213569.2(NEBL):c.204A>T (p.Thr68=) rs563150056 0.00008
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=) rs397515832 0.00007
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) rs766616232 0.00007
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000219.6(KCNE1):c.252C>T (p.Ser84=) rs138884514 0.00007
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu) rs199473545 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.818T>C (p.Val273Ala) rs144288433 0.00007
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=) rs397515955 0.00007
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378 0.00007
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys) rs368180702 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) rs202147520 0.00007
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys) rs397516075 0.00007
NM_000256.3(MYBPC3):c.844C>T (p.Arg282Trp) rs727504234 0.00007
NM_000257.4(MYH7):c.114C>T (p.Phe38=) rs146210693 0.00007
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=) rs368734580 0.00007
NM_000257.4(MYH7):c.5397A>G (p.Glu1799=) rs200374977 0.00007
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=) rs3729831 0.00007
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000260.4(MYO7A):c.2625G>A (p.Ala875=) rs375489617 0.00007
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444 0.00007
NM_000260.4(MYO7A):c.4650G>A (p.Pro1550=) rs751242817 0.00007
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) rs778051833 0.00007
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.993C>T (p.Asp331=) rs757715398 0.00007
NM_000363.5(TNNI3):c.246G>T (p.Pro82=) rs397516343 0.00007
NM_000363.5(TNNI3):c.373-4C>G rs2288530 0.00007
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys) rs141641980 0.00007
NM_000503.6(EYA1):c.1377T>A (p.Ala459=) rs112593082 0.00007
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr) rs141774517 0.00007
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778 0.00007
NM_001018005.2(TPM1):c.564-11G>A rs532254032 0.00007
NM_001035.3(RYR2):c.13329-3T>C rs542440592 0.00007
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg) rs569386030 0.00007
NM_001038603.3(MARVELD2):c.592G>A (p.Val198Met) rs201914751 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001105206.3(LAMA4):c.1077+8dup rs397516713 0.00007
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) rs397516723 0.00007
NM_001122659.3(EDNRB):c.758G>A (p.Arg253Gln) rs140514830 0.00007
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=) rs368035633 0.00007
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_001145809.2(MYH14):c.3777C>T (p.His1259=) rs371116668 0.00007
NM_001145809.2(MYH14):c.4800T>C (p.Asn1600=) rs772671104 0.00007
NM_001195263.2(PDZD7):c.2231G>A (p.Arg744Gln) rs547610251 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys) rs141559449 0.00007
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=) rs397517379 0.00007
NM_001267550.2(TTN):c.102183C>T (p.Arg34061=) rs727504536 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met) rs397517795 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His) rs397517524 0.00007
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile) rs369932282 0.00007
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His) rs571348685 0.00007
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
NM_001267550.2(TTN):c.43167C>T (p.Ser14389=) rs375780439 0.00007
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=) rs371155050 0.00007
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) rs183047238 0.00007
NM_001267550.2(TTN):c.561G>A (p.Ser187=) rs141444282 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=) rs189818369 0.00007
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln) rs397517651 0.00007
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His) rs727503585 0.00007
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=) rs377109969 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00007
NM_001267550.2(TTN):c.76854A>G (p.Val25618=) rs192902075 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln) rs370367786 0.00007
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His) rs369899675 0.00007
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu) rs33997263 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001292063.2(OTOG):c.3264C>T (p.His1088=) rs776482697 0.00007
NM_001292063.2(OTOG):c.421C>T (p.Arg141Trp) rs752392477 0.00007
NM_001292063.2(OTOG):c.4820C>T (p.Ser1607Leu) rs867891665 0.00007
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) rs78962087 0.00007
NM_001379180.1(ESRRB):c.689-10G>A rs534216019 0.00007
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=) rs751278435 0.00007
NM_001384474.1(LOXHD1):c.3846C>T (p.Asn1282=) rs759329010 0.00007
NM_001384474.1(LOXHD1):c.4842C>T (p.Thr1614=) rs779714173 0.00007
NM_001384474.1(LOXHD1):c.6084C>T (p.Gly2028=) rs779218726 0.00007
NM_001614.5(ACTG1):c.168C>T (p.Asp56=) rs368299537 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.356C>T (p.Pro119Leu) rs376123010 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747 0.00007
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp) rs372736126 0.00007
NM_002471.4(MYH6):c.679G>A (p.Ala227Thr) rs201828188 0.00007
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala) rs754354210 0.00007
NM_002473.6(MYH9):c.5151-4G>A rs368125656 0.00007
NM_002755.4(MAP2K1):c.292-3C>T rs55694358 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002880.4(RAF1):c.1515T>C (p.Pro505=) rs140668986 0.00007
NM_002906.4(RDX):c.906A>G (p.Val302=) rs375582413 0.00007
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg) rs750349613 0.00007
NM_004100.5(EYA4):c.1739-118G>A rs757084701 0.00007
NM_004415.4(DSP):c.1839C>T (p.Thr613=) rs397516921 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.7563T>C (p.Asp2521=) rs984412074 0.00007
NM_004517.4(ILK):c.252G>A (p.Gln84=) rs757818130 0.00007
NM_004817.4(TJP2):c.3407+3A>G rs727505291 0.00007
NM_005159.5(ACTC1):c.465G>A (p.Leu155=) rs397517062 0.00007
NM_005422.4(TECTA):c.2184C>T (p.Ser728=) rs148638616 0.00007
NM_005422.4(TECTA):c.2967C>A (p.His989Gln) rs200821009 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) rs146965680 0.00007
NM_005422.4(TECTA):c.696T>C (p.Asn232=) rs149758927 0.00007
NM_005548.3(KARS1):c.759T>C (p.Tyr253=) rs538215630 0.00007
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=) rs727505181 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) rs201993978 0.00007
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) rs373669861 0.00007
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala) rs376214235 0.00007
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00007
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala) rs145108467 0.00007
NM_006941.4(SOX10):c.1245G>A (p.Ser415=) rs200970285 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_013296.5(GPSM2):c.57-10A>G rs184863735 0.00007
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723 0.00007
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578 0.00007
NM_016239.4(MYO15A):c.370G>A (p.Ala124Thr) rs576041753 0.00007
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg) rs376470294 0.00007
NM_016599.5(MYOZ2):c.245A>C (p.Asn82Thr) rs149125238 0.00007
NM_017433.5(MYO3A):c.2918G>A (p.Arg973Gln) rs142974032 0.00007
NM_017433.5(MYO3A):c.3027C>T (p.Ser1009=) rs141341808 0.00007
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=) rs748644473 0.00007
NM_021116.4(ADCY1):c.1983+10T>A rs12721475 0.00007
NM_022114.4(PRDM16):c.1839C>T (p.Thr613=) rs549179676 0.00007
NM_022114.4(PRDM16):c.3135G>A (p.Thr1045=) rs761078027 0.00007
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) rs141247813 0.00007
NM_022124.6(CDH23):c.1449+100A>C rs758005146 0.00007
NM_022124.6(CDH23):c.4664G>A (p.Arg1555His) rs727502927 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_022124.6(CDH23):c.996G>A (p.Thr332=) rs727504715 0.00007
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484 0.00007
NM_024915.4(GRHL2):c.816A>G (p.Lys272=) rs760857170 0.00007
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=) rs182626712 0.00007
NM_032119.4(ADGRV1):c.13185C>T (p.Asn4395=) rs371623591 0.00007
NM_032119.4(ADGRV1):c.453+8C>T rs768784430 0.00007
NM_032119.4(ADGRV1):c.6951+13G>A rs143356203 0.00007
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val) rs372484022 0.00007
NM_032229.3(SLITRK6):c.1029T>C (p.Leu343=) rs200156618 0.00007
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_057176.3(BSND):c.225A>G (p.Pro75=) rs755110588 0.00007
NM_080680.3(COL11A2):c.106C>T (p.Arg36Trp) rs118097056 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_133379.5(TTN):c.11253A>G (p.Arg3751=) rs374616494 0.00007
NM_133379.5(TTN):c.16602G>A (p.Gln5534=) rs141624211 0.00007
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712 0.00007
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln) rs201806320 0.00007
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala) rs374000722 0.00007
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_147196.3(TMIE):c.174C>T (p.His58=) rs373379198 0.00007
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291 0.00007
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) rs374696855 0.00007
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400 0.00007
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_153700.2(STRC):c.379C>T (p.Arg127Ter) rs771264491 0.00007
NM_170682.4(P2RX2):c.943C>T (p.Arg315Cys) rs761180947 0.00007
NM_178335.3(CCDC50):c.113-4C>G rs145892736 0.00007
NM_194248.3(OTOF):c.1569C>T (p.Asp523=) rs111440869 0.00007
NM_194248.3(OTOF):c.5159C>T (p.Thr1720Met) rs375712326 0.00007
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621 0.00007
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His) rs140845899 0.00007
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000062.3(SERPING1):c.279G>A (p.Glu93=) rs778803626 0.00006
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu) rs200411532 0.00006
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=) rs397515839 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876 0.00006
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469 0.00006
NM_000218.3(KCNQ1):c.1795-4G>A rs769865006 0.00006
NM_000218.3(KCNQ1):c.1888C>T (p.Pro630Ser) rs199472822 0.00006
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000219.6(KCNE1):c.-3del rs397515878 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys) rs368770848 0.00006
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.1335G>A (p.Thr445=) rs727503205 0.00006
NM_000256.3(MYBPC3):c.1458-7C>T rs397515904 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000256.3(MYBPC3):c.1815C>T (p.Asp605=) rs768380030 0.00006
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_000256.3(MYBPC3):c.2310C>T (p.Asp770=) rs397515959 0.00006
NM_000256.3(MYBPC3):c.2518G>A (p.Val840Met) rs376936056 0.00006
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623 0.00006
NM_000256.3(MYBPC3):c.654+12G>A rs397516065 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser) rs727503270 0.00006
NM_000257.4(MYH7):c.115G>A (p.Val39Met) rs376160714 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000257.4(MYH7):c.2922G>A (p.Lys974=) rs147727900 0.00006
NM_000257.4(MYH7):c.4053G>A (p.Thr1351=) rs397516200 0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met) rs371552806 0.00006
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.474C>T (p.Ser158=) rs200444892 0.00006
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000257.4(MYH7):c.5559+8G>A rs377473156 0.00006
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr) rs397516275 0.00006
NM_000258.3(MYL3):c.*9C>T rs202234617 0.00006
NM_000258.3(MYL3):c.420C>T (p.Phe140=) rs201138698 0.00006
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=) rs370305347 0.00006
NM_000260.4(MYO7A):c.3503+9C>T rs1481745974 0.00006
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328 0.00006
NM_000260.4(MYO7A):c.4254C>T (p.Pro1418=) rs548434591 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066 0.00006
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) rs781713344 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys) rs199473048 0.00006
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.3032C>T (p.Pro1011Leu) rs369249772 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=) rs41312407 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=) rs375254452 0.00006
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427 0.00006
NM_000337.6(SGCD):c.-44+11G>A rs184722381 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp) rs149306841 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000441.2(SLC26A4):c.1470C>T (p.Ile490=) rs140918297 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met) rs144691257 0.00006
NM_000455.5(STK11):c.125G>T (p.Arg42Leu) rs148830698 0.00006
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000503.6(EYA1):c.121G>A (p.Glu41Lys) rs561111097 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp) rs587780040 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000542.5(SFTPB):c.357C>T (p.Tyr119=) rs368293273 0.00006
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met) rs568123980 0.00006
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile) rs147075806 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001032283.3(TMPO):c.565+1328G>T rs369208265 0.00006
NM_001035.3(RYR2):c.13206C>T (p.Leu4402=) rs397516509 0.00006
NM_001035.3(RYR2):c.1518C>T (p.His506=) rs372620246 0.00006
NM_001035.3(RYR2):c.1612+13A>G rs368200572 0.00006
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu) rs397516522 0.00006
NM_001035.3(RYR2):c.4596+4C>T rs397516532 0.00006
NM_001035.3(RYR2):c.6166+8G>A rs373112536 0.00006
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001035.3(RYR2):c.7494G>A (p.Ala2498=) rs533068485 0.00006
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528 0.00006
NM_001038603.3(MARVELD2):c.1006C>T (p.Arg336Trp) rs779060557 0.00006
NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) rs145027254 0.00006
NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=) rs181575833 0.00006
NM_001038603.3(MARVELD2):c.60C>T (p.Asp20=) rs1264640823 0.00006
NM_001039141.3(TRIOBP):c.5266C>T (p.Arg1756Trp) rs774610362 0.00006
NM_001039141.3(TRIOBP):c.5949C>T (p.Ser1983=) rs746538137 0.00006
NM_001039141.3(TRIOBP):c.6248G>A (p.Arg2083His) rs185791823 0.00006
NM_001039141.3(TRIOBP):c.6324+236G>A rs140572991 0.00006
NM_001039141.3(TRIOBP):c.6325-10C>T rs727503527 0.00006
NM_001039141.3(TRIOBP):c.6455C>T (p.Thr2152Met) rs534215753 0.00006
NM_001039213.4(CEACAM16):c.1045G>A (p.Ala349Thr) rs187740201 0.00006
NM_001039213.4(CEACAM16):c.546C>T (p.Asp182=) rs747829770 0.00006
NM_001039213.4(CEACAM16):c.61G>A (p.Glu21Lys) rs368296153 0.00006
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=) rs773467465 0.00006
NM_001042545.2(LTBP4):c.3975G>A (p.Ala1325=) rs375560922 0.00006
NM_001080476.3(GRXCR1):c.*13C>G rs368464416 0.00006
NM_001103.4(ACTN2):c.1698C>T (p.Pro566=) rs148961019 0.00006
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr) rs370677725 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001103.4(ACTN2):c.354C>T (p.Gly118=) rs539250948 0.00006
NM_001105206.3(LAMA4):c.1189+8T>C rs377133875 0.00006
NM_001105206.3(LAMA4):c.1353C>T (p.Tyr451=) rs782546070 0.00006
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=) rs200589775 0.00006
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00006
NM_001105206.3(LAMA4):c.279C>T (p.Asp93=) rs397516726 0.00006
NM_001105206.3(LAMA4):c.2940A>C (p.Thr980=) rs397516727 0.00006
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=) rs141988342 0.00006
NM_001105206.3(LAMA4):c.3897A>G (p.Lys1299=) rs876657482 0.00006
NM_001105206.3(LAMA4):c.4168C>T (p.Arg1390Trp) rs200189282 0.00006
NM_001105206.3(LAMA4):c.4679G>A (p.Arg1560Gln) rs397516732 0.00006
NM_001105206.3(LAMA4):c.967-13C>T rs782148493 0.00006
NM_001128840.3(CACNA1D):c.1749C>T (p.Phe583=) rs565265907 0.00006
NM_001128840.3(CACNA1D):c.4926G>A (p.Ala1642=) rs568306347 0.00006
NM_001128840.3(CACNA1D):c.5643C>T (p.Pro1881=) rs189057793 0.00006
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) rs569709951 0.00006
NM_001134363.3(RBM20):c.3574-7T>G rs397516616 0.00006
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) rs569846404 0.00006
NM_001145809.2(MYH14):c.2334C>A (p.Leu778=) rs190941610 0.00006
NM_001145809.2(MYH14):c.4297G>A (p.Glu1433Lys) rs771755654 0.00006
NM_001145809.2(MYH14):c.5128-12C>T rs372261958 0.00006
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys) rs200818171 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg) rs766182369 0.00006
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784 0.00006
NM_001199799.2(ILDR1):c.1357C>T (p.Arg453Trp) rs376986803 0.00006
NM_001199799.2(ILDR1):c.660C>T (p.His220=) rs759965447 0.00006
NM_001199799.2(ILDR1):c.801C>G (p.Leu267=) rs149548365 0.00006
NM_001199799.2(ILDR1):c.929T>G (p.Phe310Cys) rs199882599 0.00006
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly) rs397516640 0.00006
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001256317.3(TMPRSS3):c.1053C>T (p.Asp351=) rs397517369 0.00006
NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met) rs145766262 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile) rs727505306 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.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.12558A>G (p.Pro4186=) rs72648921 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr) rs763065439 0.00006
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val) rs397517487 0.00006
NM_001267550.2(TTN):c.18231C>T (p.Thr6077=) rs377639910 0.00006
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu) rs727505256 0.00006
NM_001267550.2(TTN):c.18653T>G (p.Leu6218Arg) rs727505193 0.00006
NM_001267550.2(TTN):c.21545G>A (p.Arg7182Gln) rs200447686 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.22241-5T>C rs397517501 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met) rs368151971 0.00006
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=) rs727503643 0.00006
NM_001267550.2(TTN):c.32198-10T>C rs371121439 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.33173-4G>A rs727504440 0.00006
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile) rs375735354 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.45083-12C>T rs377143579 0.00006
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala) rs199910114 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00006
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His) rs373526624 0.00006
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser) rs766074604 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu) rs727505345 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.60471C>T (p.Ala20157=) rs397517645 0.00006
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp) rs727504479 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.62459T>C (p.Ile20820Thr) rs369446270 0.00006
NM_001267550.2(TTN):c.63800C>T (p.Pro21267Leu) rs200365508 0.00006
NM_001267550.2(TTN):c.63887G>A (p.Ser21296Asn) rs727503583 0.00006
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) rs777009984 0.00006
NM_001267550.2(TTN):c.64860G>A (p.Arg21620=) rs373713828 0.00006
NM_001267550.2(TTN):c.65379C>T (p.Phe21793=) rs377017745 0.00006
NM_001267550.2(TTN):c.66160+15C>T rs377288086 0.00006
NM_001267550.2(TTN):c.66480G>A (p.Pro22160=) rs372814670 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684 0.00006
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp) rs142926566 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg) rs727505213 0.00006
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978 0.00006
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser) rs529055709 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_001267550.2(TTN):c.83514C>T (p.Phe27838=) rs779213695 0.00006
NM_001267550.2(TTN):c.83978C>A (p.Thr27993Asn) rs377614000 0.00006
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser) rs727504693 0.00006
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=) rs727504793 0.00006
NM_001267550.2(TTN):c.89375C>T (p.Thr29792Ile) rs876658091 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) rs2288326 0.00006
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=) rs199652273 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.98544C>G (p.Ser32848=) rs756591209 0.00006
NM_001267550.2(TTN):c.99517T>A (p.Cys33173Ser) rs773021609 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_001276345.2(TNNT2):c.90C>T (p.Asp30=) rs727503515 0.00006
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001292063.2(OTOG):c.1546C>T (p.Arg516Cys) rs755375116 0.00006
NM_001292063.2(OTOG):c.1793G>A (p.Arg598His) rs1032491736 0.00006
NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly) rs941077657 0.00006
NM_001292063.2(OTOG):c.3360A>G (p.Leu1120=) rs779322374 0.00006
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met) rs758489218 0.00006
NM_001292063.2(OTOG):c.8220C>T (p.Leu2740=) rs749120808 0.00006
NM_001330691.3(CEP78):c.1273G>C (p.Val425Leu) rs375721961 0.00006
NM_001354604.2(MITF):c.623A>G (p.Glu208Gly) rs200108255 0.00006
NM_001354604.2(MITF):c.667-7C>T rs201271211 0.00006
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641 0.00006
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe) rs767853104 0.00006
NM_001369.3(DNAH5):c.5485-11A>G rs372860402 0.00006
NM_001369.3(DNAH5):c.5907T>C (p.Ala1969=) rs569572855 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val) rs727505275 0.00006
NM_001378609.3(OTOGL):c.1714A>G (p.Ile572Val) rs942588475 0.00006
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala) rs774797627 0.00006
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val) rs374368341 0.00006
NM_001378609.3(OTOGL):c.4860G>A (p.Lys1620=) rs753442959 0.00006
NM_001379180.1(ESRRB):c.483G>A (p.Pro161=) rs778645048 0.00006
NM_001379180.1(ESRRB):c.626G>A (p.Arg209Gln) rs201691455 0.00006
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=) rs148356050 0.00006
NM_001384140.1(PCDH15):c.2396G>A (p.Arg799His) rs199824864 0.00006
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_001384140.1(PCDH15):c.4671+1616G>A rs371191414 0.00006
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg) rs201496062 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_001384474.1(LOXHD1):c.2037G>A (p.Ala679=) rs201226222 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861 0.00006
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr) rs371252446 0.00006
NM_001384474.1(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.4740+13G>T rs570127242 0.00006
NM_001384474.1(LOXHD1):c.4741-11C>G rs181095005 0.00006
NM_001384474.1(LOXHD1):c.5400-7C>G rs376131738 0.00006
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg) rs727504988 0.00006
NM_001384474.1(LOXHD1):c.5911G>T (p.Asp1971Tyr) rs727504544 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_001386795.1(DTNA):c.603+15T>C rs367772080 0.00006
NM_001393500.2(TOMT):c.123A>G (p.Ser41=) rs397516626 0.00006
NM_001614.5(ACTG1):c.267C>T (p.Thr89=) rs140398667 0.00006
NM_001692.4(ATP6V1B1):c.362T>A (p.Met121Lys) rs201325403 0.00006
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117 0.00006
NM_001692.4(ATP6V1B1):c.941G>A (p.Arg314His) rs782110679 0.00006
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) rs148429410 0.00006
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_001943.5(DSG2):c.2085G>A (p.Thr695=) rs554396523 0.00006
NM_002109.6(HARS1):c.1312-8C>T rs772505507 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854 0.00006
NM_002458.3(MUC5B):c.200-12C>T rs776408111 0.00006
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg) rs367663906 0.00006
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys) rs149650190 0.00006
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys) rs397516762 0.00006
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met) rs375819633 0.00006
NM_002471.4(MYH6):c.4245A>G (p.Ser1415=) rs779697115 0.00006
NM_002471.4(MYH6):c.4525+13T>C rs397516770 0.00006
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys) rs397516771 0.00006
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp) rs111473291 0.00006
NM_002471.4(MYH6):c.800-5C>T rs727505228 0.00006
NM_002473.6(MYH9):c.2839-6C>T rs774361853 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_002473.6(MYH9):c.4203C>T (p.His1401=) rs539186034 0.00006
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) rs149271663 0.00006
NM_002473.6(MYH9):c.4653C>T (p.Thr1551=) rs375806364 0.00006
NM_002473.6(MYH9):c.5130C>T (p.Ile1710=) rs150198935 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002691.4(POLD1):c.1696G>A (p.Glu566Lys) rs372429157 0.00006
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp) rs780138978 0.00006
NM_002700.3(POU4F3):c.120+8G>A rs188019440 0.00006
NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly) rs727504413 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu) rs397516824 0.00006
NM_002906.4(RDX):c.790G>C (p.Ala264Pro) rs201031650 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr) rs145300736 0.00006
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145 0.00006
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_003803.4(MYOM1):c.2350G>A (p.Glu784Lys) rs368949465 0.00006
NM_003803.4(MYOM1):c.2428C>T (p.Arg810Trp) rs776727177 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004006.3(DMD):c.*24G>A rs372284841 0.00006
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys) rs146384458 0.00006
NM_004006.3(DMD):c.43G>C (p.Asp15His) rs876657780 0.00006
NM_004086.3(COCH):c.1221T>C (p.Ala407=) rs199608109 0.00006
NM_004086.3(COCH):c.373+4G>A rs376255896 0.00006
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg) rs758076073 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter) rs149562813 0.00006
NM_004281.4(BAG3):c.-4C>T rs727502894 0.00006
NM_004281.4(BAG3):c.1422C>T (p.Ala474=) rs727505000 0.00006
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr) rs375257731 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_004333.6(BRAF):c.1084C>A (p.Arg362=) rs397516885 0.00006
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906 0.00006
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 0.00006
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_004568.6(SERPINB6):c.1092C>A (p.Thr364=) rs182270252 0.00006
NM_004568.6(SERPINB6):c.379G>A (p.Val127Ile) rs146252067 0.00006
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu) rs377218278 0.00006
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) rs121908611 0.00006
NM_004985.5(KRAS):c.451-5560T>A rs373169526 0.00006
NM_004999.4(MYO6):c.1748C>T (p.Ala583Val) rs766684928 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 0.00006
NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp) rs189411232 0.00006
NM_004999.4(MYO6):c.3537C>T (p.Ala1179=) rs371212410 0.00006
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048 0.00006
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473 0.00006
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_005379.4(MYO1A):c.1055G>A (p.Arg352His) rs727504566 0.00006
NM_005379.4(MYO1A):c.771G>A (p.Ser257=) rs201705384 0.00006
NM_005422.4(TECTA):c.1123G>A (p.Val375Ile) rs752254649 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.2749G>A (p.Asp917Asn) rs145852265 0.00006
NM_005422.4(TECTA):c.4044C>T (p.Tyr1348=) rs758718634 0.00006
NM_005422.4(TECTA):c.5296G>A (p.Val1766Met) rs781245536 0.00006
NM_005422.4(TECTA):c.5304G>A (p.Ala1768=) rs373055342 0.00006
NM_005422.4(TECTA):c.5861C>T (p.Thr1954Met) rs542600464 0.00006
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met) rs372282487 0.00006
NM_005548.3(KARS1):c.5C>T (p.Ala2Val) rs773811440 0.00006
NM_005633.4(SOS1):c.929G>A (p.Arg310His) rs143481916 0.00006
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) rs565697340 0.00006
NM_006005.3(WFS1):c.1479C>T (p.Val493=) rs750126396 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) rs201623184 0.00006
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr) rs571946670 0.00006
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) rs140667597 0.00006
NM_006005.3(WFS1):c.449C>T (p.Ala150Val) rs113651985 0.00006
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser) rs749342382 0.00006
NM_006393.3(NEBL):c.1272A>G (p.Gly424=) rs727504866 0.00006
NM_006393.3(NEBL):c.2346+6G>A rs201822024 0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765 0.00006
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu) rs727503338 0.00006
NM_006941.4(SOX10):c.773G>A (p.Arg258Gln) rs748234376 0.00006
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg) rs566463138 0.00006
NM_007078.3(LDB3):c.689+9C>T rs727503124 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_012208.4(HARS2):c.502C>T (p.Arg168Cys) rs761054820 0.00006
NM_013296.5(GPSM2):c.593G>A (p.Arg198Gln) rs371700490 0.00006
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975 0.00006
NM_015340.4(LARS2):c.1782G>T (p.Leu594=) rs145796540 0.00006
NM_015340.4(LARS2):c.180G>C (p.Glu60Asp) rs199568924 0.00006
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) rs142665087 0.00006
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr) rs201911936 0.00006
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu) rs182750960 0.00006
NM_016239.4(MYO15A):c.10083-4A>C rs550552225 0.00006
NM_016239.4(MYO15A):c.215G>A (p.Arg72His) rs759523877 0.00006
NM_016239.4(MYO15A):c.264G>A (p.Thr88=) rs571886925 0.00006
NM_016239.4(MYO15A):c.381C>G (p.Leu127=) rs199520255 0.00006
NM_016239.4(MYO15A):c.3909C>T (p.Leu1303=) rs377070697 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met) rs760534158 0.00006
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala) rs761670755 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) rs368430972 0.00006
NM_016239.4(MYO15A):c.5210G>A (p.Arg1737Gln) rs369518617 0.00006
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) rs769596933 0.00006
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys) rs374485649 0.00006
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn) rs374160194 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_016239.4(MYO15A):c.9436C>T (p.His3146Tyr) rs201230033 0.00006
NM_016366.3(CABP2):c.345C>A (p.Thr115=) rs376093439 0.00006
NM_016929.5(CLIC5):c.342G>A (p.Ala114=) rs149700111 0.00006
NM_017433.5(MYO3A):c.2803A>C (p.Met935Leu) rs375958934 0.00006
NM_017433.5(MYO3A):c.3007C>T (p.Leu1003Phe) rs776675167 0.00006
NM_017433.5(MYO3A):c.542G>A (p.Arg181His) rs574220416 0.00006
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met) rs137907278 0.00006
NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=) rs368079660 0.00006
NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg) rs121908318 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_021116.4(ADCY1):c.1307+14G>A rs886629273 0.00006
NM_021116.4(ADCY1):c.2133G>A (p.Ser711=) rs149908239 0.00006
NM_021116.4(ADCY1):c.790-3C>T rs76595582 0.00006
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) rs142908436 0.00006
NM_022114.4(PRDM16):c.3366C>T (p.Asp1122=) rs370195954 0.00006
NM_022114.4(PRDM16):c.822C>T (p.Gly274=) rs372730781 0.00006
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met) rs201884261 0.00006
NM_022124.6(CDH23):c.4582G>A (p.Glu1528Lys) rs201533282 0.00006
NM_022124.6(CDH23):c.460G>A (p.Val154Met) rs199741966 0.00006
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His) rs111033491 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.6168C>T (p.Leu2056=) rs371570295 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.7568C>T (p.Pro2523Leu) rs369761606 0.00006
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu) rs758360283 0.00006
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707 0.00006
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254 0.00006
NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro) rs781716568 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr) rs200733236 0.00006
NM_023014.1(PRAMEF2):c.1233G>A (p.Thr411=) rs370982921 0.00006
NM_024009.3(GJB3):c.293G>A (p.Arg98His) rs201314683 0.00006
NM_024009.3(GJB3):c.546C>T (p.Thr182=) rs370947069 0.00006
NM_024009.3(GJB3):c.99G>A (p.Val33=) rs727504610 0.00006
NM_024334.3(TMEM43):c.921G>A (p.Lys307=) rs201771608 0.00006
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_024422.6(DSC2):c.1591A>C (p.Arg531=) rs727502981 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_031475.3(ESPN):c.1080G>A (p.Thr360=) rs373242735 0.00006
NM_031475.3(ESPN):c.1094C>T (p.Pro365Leu) rs201251427 0.00006
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser) rs397517420 0.00006
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys) rs371970388 0.00006
NM_032119.4(ADGRV1):c.13600A>G (p.Met4534Val) rs761667882 0.00006
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile) rs369108080 0.00006
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) rs534266547 0.00006
NM_032119.4(ADGRV1):c.14433G>A (p.Pro4811=) rs373038870 0.00006
NM_032119.4(ADGRV1):c.17204+4A>G rs376691612 0.00006
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser) rs397517427 0.00006
NM_032119.4(ADGRV1):c.18621G>A (p.Glu6207=) rs543269561 0.00006
NM_032119.4(ADGRV1):c.23-13C>G rs567154907 0.00006
NM_032119.4(ADGRV1):c.243A>T (p.Thr81=) rs376660492 0.00006
NM_032119.4(ADGRV1):c.3885T>G (p.Gly1295=) rs530678993 0.00006
NM_032119.4(ADGRV1):c.4349A>G (p.Lys1450Arg) rs372188446 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met) rs1264693693 0.00006
NM_032229.3(SLITRK6):c.1102C>T (p.Leu368Phe) rs1053146634 0.00006
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser) rs550455783 0.00006
NM_032578.4(MYPN):c.2507C>T (p.Ser836Phe) rs376141715 0.00006
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met) rs750655311 0.00006
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568 0.00006
NM_033118.4(MYLK2):c.105C>T (p.Asp35=) rs551492045 0.00006
NM_033118.4(MYLK2):c.1224+8A>C rs375144075 0.00006
NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe) rs140233643 0.00006
NM_033337.3(CAV3):c.39C>T (p.Ile13=) rs200562715 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_057176.3(BSND):c.425G>A (p.Gly142Glu) rs769608234 0.00006
NM_057176.3(BSND):c.842C>T (p.Ser281Leu) rs781101708 0.00006
NM_080680.3(COL11A2):c.1188C>T (p.Leu396=) rs532305958 0.00006
NM_080680.3(COL11A2):c.2178C>T (p.Asp726=) rs138650682 0.00006
NM_080680.3(COL11A2):c.3583-3C>T rs727502939 0.00006
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His) rs772567850 0.00006
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458 0.00006
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) rs138320978 0.00006
NM_133261.3(GIPC3):c.702A>G (p.Glu234=) rs748059362 0.00006
NM_133261.3(GIPC3):c.706-7C>T rs775627552 0.00006
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys) rs144690298 0.00006
NM_133379.5(TTN):c.12387G>A (p.Leu4129=) rs142887857 0.00006
NM_133379.5(TTN):c.13204C>T (p.Leu4402Phe) rs370602665 0.00006
NM_133379.5(TTN):c.13984A>G (p.Ile4662Val) rs374783099 0.00006
NM_133379.5(TTN):c.14295T>G (p.His4765Gln) rs140366460 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) rs151001642 0.00006
NM_138691.3(TMC1):c.339G>A (p.Met113Ile) rs397517840 0.00006
NM_138691.3(TMC1):c.472C>T (p.Arg158Cys) rs200841002 0.00006
NM_138691.3(TMC1):c.483G>A (p.Glu161=) rs375984349 0.00006
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_144573.4(NEXN):c.447+5C>T rs727503343 0.00006
NM_144672.4(OTOA):c.131T>C (p.Ile44Thr) rs730882117 0.00006
NM_144991.3(TSPEAR):c.1500C>T (p.Ser500=) rs782070183 0.00006
NM_144991.3(TSPEAR):c.1754+7G>A rs200711828 0.00006
NM_147196.3(TMIE):c.101C>T (p.Thr34Met) rs763490939 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_153676.4(USH1C):c.1211-1188G>A rs199972595 0.00006
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro) rs367952604 0.00006
NM_153676.4(USH1C):c.2013+5T>C rs371038786 0.00006
NM_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881 0.00006
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994 0.00006
NM_153700.2(STRC):c.4195G>T (p.Glu1399Ter) rs371513959 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_153700.2(STRC):c.4339G>A (p.Ala1447Thr) rs140238012 0.00006
NM_170707.4(LMNA):c.1381-6C>T rs371635492 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896 0.00006
NM_173477.5(USH1G):c.510C>G (p.Ala170=) rs374630813 0.00006
NM_178335.3(CCDC50):c.546G>C (p.Glu182Asp) rs201472875 0.00006
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp) rs753739358 0.00006
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070 0.00006
NM_194248.3(OTOF):c.3091A>G (p.Ile1031Val) rs113433719 0.00006
NM_194248.3(OTOF):c.3480C>T (p.Ile1160=) rs375349663 0.00006
NM_194248.3(OTOF):c.388G>A (p.Asp130Asn) rs756143591 0.00006
NM_194248.3(OTOF):c.447G>A (p.Thr149=) rs151257291 0.00006
NM_194248.3(OTOF):c.5115G>A (p.Glu1705=) rs150521317 0.00006
NM_194248.3(OTOF):c.959C>T (p.Ser320Leu) rs371666216 0.00006
NM_201384.3(PLEC):c.12558G>A (p.Ser4186=) rs370789200 0.00006
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln) rs376555091 0.00006
NM_201384.3(PLEC):c.8475C>T (p.Pro2825=) rs374602421 0.00006
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile) rs149793143 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371 0.00006
NM_206933.4(USH2A):c.1143+12C>T rs727505167 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys) rs727503718 0.00006
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847 0.00006
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752 0.00006
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val) rs727503732 0.00006
NM_206933.4(USH2A):c.4886-12C>T rs199823130 0.00006
NM_206933.4(USH2A):c.5496G>A (p.Val1832=) rs146585940 0.00006
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=) rs41277216 0.00006
NM_206933.4(USH2A):c.5783T>C (p.Leu1928Pro) rs111033399 0.00006
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) rs773405046 0.00006
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser) rs756041909 0.00006
NM_206933.4(USH2A):c.6279T>C (p.Asp2093=) rs200876799 0.00006
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) rs375278546 0.00006
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=) rs147615382 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NC_000007.14:g.107660715C>T rs555168273 0.00005
NM_000038.6(APC):c.4424C>T (p.Ala1475Val) rs375380414 0.00005
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn) rs972796332 0.00005
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His) rs768326843 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met) rs267608089 0.00005
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484 0.00005
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu) rs199472735 0.00005
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000219.6(KCNE1):c.-5C>A rs191334763 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000219.6(KCNE1):c.315G>A (p.Ser105=) rs563859144 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000256.3(MYBPC3):c.1227-10C>T rs374673836 0.00005
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906 0.00005
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr) rs727503198 0.00005
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) rs397515932 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=) rs397515996 0.00005
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875 0.00005
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His) rs117354682 0.00005
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala) rs375774648 0.00005
NM_000257.4(MYH7):c.1251C>G (p.Val417=) rs370628924 0.00005
NM_000257.4(MYH7):c.1323G>A (p.Thr441=) rs397516096 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=) rs200664031 0.00005
NM_000257.4(MYH7):c.5559+4C>T rs727504319 0.00005
NM_000260.4(MYO7A):c.1821G>A (p.Ser607=) rs397516288 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys) rs374766654 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) rs762836180 0.00005
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) rs368749248 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000292.3(PHKA2):c.1042-12G>C rs747884026 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn) rs199473195 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_000363.5(TNNI3):c.39C>G (p.Arg13=) rs397516346 0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000441.2(SLC26A4):c.2242C>G (p.Leu748Val) rs727504813 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn) rs373501480 0.00005
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp) rs727503049 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000601.6(HGF):c.865+11G>A rs761252474 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001005242.3(PKP2):c.1379-2072C>T rs758950276 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443 0.00005
NM_001035.3(RYR2):c.10293T>C (p.Leu3431=) rs727505058 0.00005
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676 0.00005
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln) rs747605864 0.00005
NM_001038.6(SCNN1A):c.-23C>G rs377074479 0.00005
NM_001038603.3(MARVELD2):c.1438C>G (p.Leu480Val) rs767671073 0.00005
NM_001039141.3(TRIOBP):c.6776G>A (p.Arg2259His) rs554837585 0.00005
NM_001039141.3(TRIOBP):c.7017C>T (p.Ile2339=) rs149496377 0.00005
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr) rs370890913 0.00005
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn) rs587780746 0.00005
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627 0.00005
NM_001080476.3(GRXCR1):c.231G>T (p.Gln77His) rs368876169 0.00005
NM_001080476.3(GRXCR1):c.747A>G (p.Pro249=) rs369500517 0.00005
NM_001103.4(ACTN2):c.1476A>T (p.Arg492=) rs397516569 0.00005
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=) rs201179281 0.00005
NM_001105206.3(LAMA4):c.5380C>T (p.Arg1794Cys) rs781802725 0.00005
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 0.00005
NM_001127453.2(GSDME):c.587C>T (p.Thr196Met) rs183361282 0.00005
NM_001127453.2(GSDME):c.686dup (p.Asp229fs) rs777408599 0.00005
NM_001128840.3(CACNA1D):c.2254G>A (p.Val752Ile) rs962492548 0.00005
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984 0.00005
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) rs397516599 0.00005
NM_001145809.2(MYH14):c.1174C>T (p.Arg392Trp) rs778312429 0.00005
NM_001145809.2(MYH14):c.1265C>G (p.Ala422Gly) rs372324948 0.00005
NM_001145809.2(MYH14):c.2458C>T (p.Arg820Cys) rs767984672 0.00005
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) rs559356437 0.00005
NM_001145809.2(MYH14):c.3623C>T (p.Ala1208Val) rs758560911 0.00005
NM_001145809.2(MYH14):c.4377C>T (p.Ala1459=) rs779641478 0.00005
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=) rs577393948 0.00005
NM_001195263.2(PDZD7):c.306C>T (p.Arg102=) rs141305163 0.00005
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) rs368583838 0.00005
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys) rs746732835 0.00005
NM_001199799.2(ILDR1):c.1461G>A (p.Arg487=) rs189004426 0.00005
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) rs764732977 0.00005
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_001256317.3(TMPRSS3):c.993C>T (p.Asn331=) rs397517380 0.00005
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=) rs727505046 0.00005
NM_001267550.2(TTN):c.100281C>T (p.Tyr33427=) rs373085562 0.00005
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser) rs766439271 0.00005
NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln) rs199642423 0.00005
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met) rs377056111 0.00005
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys) rs375103237 0.00005
NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys) rs397517827 0.00005
NM_001267550.2(TTN):c.14935+9C>T rs544241749 0.00005
NM_001267550.2(TTN):c.1800+1G>A rs397517497 0.00005
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) rs375652574 0.00005
NM_001267550.2(TTN):c.2280C>T (p.Val760=) rs727505021 0.00005
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn) rs727505052 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.28466G>A (p.Arg9489Gln) rs189431308 0.00005
NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys) rs144025230 0.00005
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=) rs370903846 0.00005
NM_001267550.2(TTN):c.32803A>G (p.Lys10935Glu) rs397517543 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598 0.00005
NM_001267550.2(TTN):c.49649-11T>C rs727504474 0.00005
NM_001267550.2(TTN):c.50083C>A (p.Arg16695=) rs751502842 0.00005
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630 0.00005
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn) rs876658064 0.00005
NM_001267550.2(TTN):c.51739+14C>A rs727505018 0.00005
NM_001267550.2(TTN):c.53924C>G (p.Thr17975Ser) rs727503605 0.00005
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln) rs376932266 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54381+6C>G rs368265962 0.00005
NM_001267550.2(TTN):c.56296G>C (p.Ala18766Pro) rs727505268 0.00005
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys) rs376455983 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.66959G>A (p.Arg22320His) rs771424865 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.74545C>T (p.Arg24849Trp) rs727503562 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.83115C>T (p.Pro27705=) rs747021593 0.00005
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys) rs397517726 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 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.95130C>A (p.Gly31710=) rs727504857 0.00005
NM_001267550.2(TTN):c.9519C>T (p.Asp3173=) rs151129843 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.97480C>T (p.Arg32494Cys) rs727503539 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001267550.2(TTN):c.99940C>T (p.Pro33314Ser) rs754605294 0.00005
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=) rs397516474 0.00005
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678 0.00005
NM_001286445.3(RIPOR2):c.965G>A (p.Arg322Gln) rs745837159 0.00005
NM_001292063.2(OTOG):c.5467G>A (p.Gly1823Ser) rs539129544 0.00005
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) rs755149839 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu) rs199706698 0.00005
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe) rs188793584 0.00005
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln) rs546893082 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001384474.1(LOXHD1):c.4147A>G (p.Thr1383Ala) rs1182325987 0.00005
NM_001384474.1(LOXHD1):c.4734C>T (p.Tyr1578=) rs376338995 0.00005
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser) rs192929296 0.00005
NM_001384474.1(LOXHD1):c.6050-15C>T rs397517864 0.00005
NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=) rs376581983 0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 0.00005
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) rs397516735 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002471.4(MYH6):c.1582-7C>T rs374941865 0.00005
NM_002473.6(MYH9):c.2635A>C (p.Met879Leu) rs200328859 0.00005
NM_002473.6(MYH9):c.2691C>T (p.Ala897=) rs148883810 0.00005
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) rs531623930 0.00005
NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys) rs727503286 0.00005
NM_002473.6(MYH9):c.4800C>T (p.Asp1600=) rs201223994 0.00005
NM_002473.6(MYH9):c.5142C>T (p.Ser1714=) rs141854577 0.00005
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) rs756195567 0.00005
NM_002755.4(MAP2K1):c.957C>T (p.Asn319=) rs143019052 0.00005
NM_002764.4(PRPS1):c.864+10A>G rs200767443 0.00005
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002906.4(RDX):c.1282A>G (p.Ile428Val) rs572843421 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala) rs397516859 0.00005
NM_003803.4(MYOM1):c.3278C>T (p.Ala1093Val) rs749676865 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu) rs368866313 0.00005
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) rs142592480 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061 0.00005
NM_004415.4(DSP):c.727-10T>G rs375327581 0.00005
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211 0.00005
NM_004568.6(SERPINB6):c.18A>G (p.Glu6=) rs727505182 0.00005
NM_004568.6(SERPINB6):c.816G>A (p.Pro272=) rs151200580 0.00005
NM_004667.6(HERC2):c.12801T>A (p.Asp4267Glu) rs373175587 0.00005
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly) rs773975779 0.00005
NM_004700.4(KCNQ4):c.1263G>A (p.Pro421=) rs727503105 0.00005
NM_004700.4(KCNQ4):c.315-9T>C rs548061300 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=) rs727502960 0.00005
NM_005379.4(MYO1A):c.2572A>G (p.Lys858Glu) rs142017261 0.00005
NM_005422.4(TECTA):c.2077G>A (p.Gly693Arg) rs200502160 0.00005
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu) rs199898869 0.00005
NM_005633.4(SOS1):c.841A>G (p.Ser281Gly) rs397517178 0.00005
NM_006005.3(WFS1):c.477C>T (p.Asn159=) rs753964845 0.00005
NM_006012.4(CLPP):c.153G>A (p.Thr51=) rs769823589 0.00005
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser) rs751451482 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006393.3(NEBL):c.2761+15C>T rs760162209 0.00005
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) rs397517211 0.00005
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301 0.00005
NM_015404.4(WHRN):c.1677C>T (p.Asn559=) rs138127153 0.00005
NM_016239.4(MYO15A):c.5301G>A (p.Ala1767=) rs371647200 0.00005
NM_016239.4(MYO15A):c.5886C>T (p.Tyr1962=) rs727503310 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_016239.4(MYO15A):c.6624G>A (p.Pro2208=) rs560456552 0.00005
NM_016239.4(MYO15A):c.6864G>A (p.Ser2288=) rs727503313 0.00005
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys) rs142465521 0.00005
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) rs373462792 0.00005
NM_016239.4(MYO15A):c.9304-15C>T rs753539094 0.00005
NM_017433.5(MYO3A):c.230A>C (p.Asn77Thr) rs1232229010 0.00005
NM_017433.5(MYO3A):c.3133G>A (p.Val1045Met) rs35447806 0.00005
NM_020297.4(ABCC9):c.48C>T (p.Asn16=) rs199631710 0.00005
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys) rs200149713 0.00005
NM_022114.4(PRDM16):c.1517C>T (p.Thr506Met) rs368543415 0.00005
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622 0.00005
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465 0.00005
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=) rs375545532 0.00005
NM_024747.6(HPS6):c.455C>T (p.Ser152Leu) rs369112226 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg) rs771737095 0.00005
NM_032119.4(ADGRV1):c.14532G>T (p.Leu4844=) rs367716487 0.00005
NM_032119.4(ADGRV1):c.2284C>T (p.Arg762Cys) rs41302842 0.00005
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu) rs771317730 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_032578.4(MYPN):c.1536C>T (p.Cys512=) rs569718340 0.00005
NM_032578.4(MYPN):c.3582C>T (p.Arg1194=) rs139820597 0.00005
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831 0.00005
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn) rs397517472 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) rs199696535 0.00005
NM_080680.3(COL11A2):c.4545G>A (p.Ser1515=) rs367885056 0.00005
NM_133261.3(GIPC3):c.-15C>T rs1214727223 0.00005
NM_133379.5(TTN):c.10837G>A (p.Ala3613Thr) rs144967245 0.00005
NM_133379.5(TTN):c.12129A>G (p.Ala4043=) rs727503669 0.00005
NM_133379.5(TTN):c.12536A>C (p.Glu4179Ala) rs568690706 0.00005
NM_133379.5(TTN):c.14114G>A (p.Arg4705Gln) rs144127396 0.00005
NM_133379.5(TTN):c.14767A>G (p.Thr4923Ala) rs773571719 0.00005
NM_133379.5(TTN):c.15585T>C (p.Tyr5195=) rs149543721 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) rs369890353 0.00005
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) rs201249971 0.00005
NM_144498.4(OSBPL2):c.226G>A (p.Val76Met) rs777865483 0.00005
NM_144573.4(NEXN):c.865-5G>A rs727505353 0.00005
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu) rs370899710 0.00005
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn) rs727503712 0.00005
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) rs201104489 0.00005
NM_153676.4(USH1C):c.1907G>A (p.Arg636His) rs138017852 0.00005
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153700.2(STRC):c.2494C>T (p.Arg832Trp) rs876658007 0.00005
NM_153700.2(STRC):c.2495G>A (p.Arg832Gln) rs1425015832 0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe) rs2915791 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_182548.4(LHFPL5):c.648C>T (p.Thr216=) rs17852586 0.00005
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_194248.3(OTOF):c.3865-12G>A rs374902867 0.00005
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=) rs141119917 0.00005
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly) rs149527139 0.00005
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg) rs201864716 0.00005
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527 0.00005
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) rs201847741 0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) rs111033410 0.00005
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414 0.00004
NM_000116.5(TAFAZZIN):c.584-7T>C rs397515745 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000169.3(GLA):c.1000-14T>C rs397515868 0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys) rs369456858 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000218.3(KCNQ1):c.1033-4C>T rs543599445 0.00004
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000256.3(MYBPC3):c.-10G>A rs567307744 0.00004
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) rs397515885 0.00004
NM_000256.3(MYBPC3):c.1294G>A (p.Ala432Thr) rs371167525 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.1518C>T (p.Asp506=) rs397515908 0.00004
NM_000256.3(MYBPC3):c.1914C>T (p.Phe638=) rs377227442 0.00004
NM_000256.3(MYBPC3):c.1968A>G (p.Pro656=) rs397515940 0.00004
NM_000256.3(MYBPC3):c.2149-8C>G rs397515950 0.00004
NM_000256.3(MYBPC3):c.2177G>A (p.Arg726His) rs397515953 0.00004
NM_000256.3(MYBPC3):c.2319C>T (p.Asp773=) rs397515962 0.00004
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.2517C>T (p.Gly839=) rs370561202 0.00004
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val) rs373171036 0.00004
NM_000256.3(MYBPC3):c.2603-11C>T rs11570105 0.00004
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980 0.00004
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His) rs727503179 0.00004
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235 0.00004
NM_000256.3(MYBPC3):c.3052G>C (p.Glu1018Gln) rs372003333 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr) rs397516026 0.00004
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) rs397516033 0.00004
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=) rs371842442 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=) rs727504858 0.00004
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=) rs397516064 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000257.4(MYH7):c.12G>A (p.Ser4=) rs45561941 0.00004
NM_000257.4(MYH7):c.1332T>C (p.Asn444=) rs397516099 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000257.4(MYH7):c.2425G>T (p.Asp809Tyr) rs397516147 0.00004
NM_000257.4(MYH7):c.2637C>T (p.Ser879=) rs199915408 0.00004
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg) rs199577321 0.00004
NM_000257.4(MYH7):c.3771T>C (p.Asn1257=) rs375219617 0.00004
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088 0.00004
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=) rs45523835 0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln) rs779715863 0.00004
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=) rs587781085 0.00004
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233 0.00004
NM_000257.4(MYH7):c.503-5C>T rs397516236 0.00004
NM_000257.4(MYH7):c.5115G>A (p.Glu1705=) rs397516239 0.00004
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln) rs371855540 0.00004
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00004
NM_000258.3(MYL3):c.*5C>T rs727505197 0.00004
NM_000258.3(MYL3):c.246G>A (p.Ala82=) rs368364468 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141 0.00004
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.1690+15C>T rs781801012 0.00004
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) rs781812509 0.00004
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His) rs199607235 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076 0.00004
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140 0.00004
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654 0.00004
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu) rs781893704 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.5748C>T (p.Phe1916=) rs756514910 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000260.4(MYO7A):c.6384C>T (p.Ile2128=) rs748743374 0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=) rs369253900 0.00004
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 0.00004
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00004
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.880G>A (p.Val294Met) rs199473086 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_000335.5(SCN5A):c.954C>T (p.Asn318=) rs372623225 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.4-12C>T rs727504580 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu) rs397516342 0.00004
NM_000363.5(TNNI3):c.303C>T (p.His101=) rs199539066 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000363.5(TNNI3):c.6G>A (p.Ala2=) rs397516361 0.00004
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) rs759047948 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn) rs149078011 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.322C>T (p.Leu108=) rs374545905 0.00004
NM_000441.2(SLC26A4):c.463A>G (p.Met155Val) rs201931861 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=) rs142526976 0.00004
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg) rs34852121 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.14814C>T (p.Ile4938=) rs118192159 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000601.6(HGF):c.2179C>T (p.Gln727Ter) rs140790665 0.00004
NM_001001480.3(KRTAP5-5):c.575A>G (p.Tyr192Cys) rs77039648 0.00004
NM_001005242.3(PKP2):c.12C>T (p.Pro4=) rs397516991 0.00004
NM_001005242.3(PKP2):c.1379-2102C>G rs762631031 0.00004
NM_001005242.3(PKP2):c.1608C>T (p.Asp536=) rs397517006 0.00004
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=) rs727505293 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val) rs143503798 0.00004
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln) rs397517020 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372 0.00004
NM_001013838.3(CARMIL2):c.2672A>C (p.Gln891Pro) rs769736838 0.00004
NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter) rs374379931 0.00004
NM_001018005.2(TPM1):c.240+4457A>T rs397516489 0.00004
NM_001018116.2(CAVIN4):c.920G>C (p.Ser307Thr) rs751703046 0.00004
NM_001032283.3(TMPO):c.614G>A (p.Arg205Lys) rs727504952 0.00004
NM_001035.3(RYR2):c.10495-14A>G rs727505057 0.00004
NM_001035.3(RYR2):c.11115C>T (p.Asp3705=) rs752297019 0.00004
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu) rs1036775644 0.00004
NM_001035.3(RYR2):c.11382C>T (p.Ala3794=) rs760519786 0.00004
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00004
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His) rs190009333 0.00004
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe) rs727504508 0.00004
NM_001035.3(RYR2):c.294+15G>A rs750047302 0.00004
NM_001035.3(RYR2):c.3423+10C>A rs876657577 0.00004
NM_001035.3(RYR2):c.345C>T (p.Tyr115=) rs397516525 0.00004
NM_001035.3(RYR2):c.385-14T>C rs372287944 0.00004
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr) rs772551383 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.5494G>A (p.Gly1832Ser) rs727504983 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln) rs727504976 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val) rs745839689 0.00004
NM_001039141.3(TRIOBP):c.*2+10G>A rs727503531 0.00004
NM_001039141.3(TRIOBP):c.477G>T (p.Arg159Ser) rs188030007 0.00004
NM_001039141.3(TRIOBP):c.5198C>T (p.Pro1733Leu) rs373745908 0.00004
NM_001039141.3(TRIOBP):c.5519G>A (p.Arg1840His) rs376340052 0.00004
NM_001039141.3(TRIOBP):c.6196G>A (p.Glu2066Lys) rs564506970 0.00004
NM_001039141.3(TRIOBP):c.6308C>T (p.Pro2103Leu) rs200250028 0.00004
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln) rs200850285 0.00004
NM_001039213.4(CEACAM16):c.1267+1G>A rs766512544 0.00004
NM_001039213.4(CEACAM16):c.51T>C (p.Asn17=) rs202230938 0.00004
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) rs774276326 0.00004
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) rs750797779 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042545.2(LTBP4):c.211C>T (p.Pro71Ser) rs746506861 0.00004
NM_001042545.2(LTBP4):c.3066C>T (p.Cys1022=) rs727503154 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=) rs727502872 0.00004
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=) rs202135204 0.00004
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 0.00004
NM_001103.4(ACTN2):c.2445C>T (p.Ile815=) rs397516575 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001103.4(ACTN2):c.48G>A (p.Glu16=) rs397516580 0.00004
NM_001103.4(ACTN2):c.795G>A (p.Ala265=) rs757253639 0.00004
NM_001105206.3(LAMA4):c.1503T>A (p.Asp501Glu) rs370194991 0.00004
NM_001105206.3(LAMA4):c.2056+12C>T rs397516722 0.00004
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr) rs727503113 0.00004
NM_001110219.3(GJB6):c.117T>C (p.Ala39=) rs727503070 0.00004
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123 0.00004
NM_001114753.3(ENG):c.1742-15G>A rs201678228 0.00004
NM_001128228.3(TPRN):c.1986G>A (p.Pro662=) rs373509671 0.00004
NM_001128840.3(CACNA1D):c.2221+14C>T rs373186365 0.00004
NM_001128840.3(CACNA1D):c.2721C>T (p.Asp907=) rs142208141 0.00004
NM_001128840.3(CACNA1D):c.5628C>T (p.Ile1876=) rs756947491 0.00004
NM_001128840.3(CACNA1D):c.5841G>A (p.Thr1947=) rs146425374 0.00004
NM_001134363.3(RBM20):c.1338-11G>A rs372064165 0.00004
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=) rs397516594 0.00004
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly) rs561904103 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_001134363.3(RBM20):c.363C>T (p.Asn121=) rs727504930 0.00004
NM_001134363.3(RBM20):c.441C>T (p.His147=) rs397516619 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001145308.5(LRTOMT):c.35-4G>A rs781682346 0.00004
NM_001145809.2(MYH14):c.1665C>T (p.Pro555=) rs202104229 0.00004
NM_001145809.2(MYH14):c.3585G>A (p.Ala1195=) rs368190437 0.00004
NM_001145809.2(MYH14):c.4439G>A (p.Arg1480His) rs187782753 0.00004
NM_001145809.2(MYH14):c.5530G>A (p.Gly1844Arg) rs375748088 0.00004
NM_001145809.2(MYH14):c.975C>T (p.Ala325=) rs553878240 0.00004
NM_001146079.2(CLDN14):c.363C>T (p.Gly121=) rs763411863 0.00004
NM_001146079.2(CLDN14):c.83C>T (p.Pro28Leu) rs727504989 0.00004
NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu) rs369038140 0.00004
NM_001199107.2(TBC1D24):c.1142+14G>A rs745904419 0.00004
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys) rs767145914 0.00004
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=) rs779117497 0.00004
NM_001199799.2(ILDR1):c.352C>T (p.Arg118Trp) rs774128939 0.00004
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001256317.3(TMPRSS3):c.309C>T (p.Asp103=) rs111033502 0.00004
NM_001256317.3(TMPRSS3):c.783C>T (p.Asp261=) rs397517378 0.00004
NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr) rs762498249 0.00004
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.10679-10G>C rs397517832 0.00004
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) rs373152640 0.00004
NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser) rs377296133 0.00004
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=) rs727503660 0.00004
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.15978C>T (p.His5326=) rs397517482 0.00004
NM_001267550.2(TTN):c.16234G>A (p.Ala5412Thr) rs727504442 0.00004
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His) rs376012117 0.00004
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00004
NM_001267550.2(TTN):c.1914A>G (p.Glu638=) rs727504691 0.00004
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=) rs369275615 0.00004
NM_001267550.2(TTN):c.1953C>T (p.Ala651=) rs778742098 0.00004
NM_001267550.2(TTN):c.2084T>C (p.Val695Ala) rs727503702 0.00004
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=) rs727504579 0.00004
NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp) rs727504736 0.00004
NM_001267550.2(TTN):c.21777T>A (p.Ile7259=) rs727505220 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856 0.00004
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=) rs191854953 0.00004
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu) rs200598509 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn) rs397517506 0.00004
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile) rs397517507 0.00004
NM_001267550.2(TTN):c.26463C>T (p.Phe8821=) rs551600321 0.00004
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 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.2883C>T (p.Thr961=) rs397517541 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser) rs368531555 0.00004
NM_001267550.2(TTN):c.30642A>G (p.Pro10214=) rs397517533 0.00004
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr) rs369094355 0.00004
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr) rs769226745 0.00004
NM_001267550.2(TTN):c.32095+1G>A rs727503636 0.00004
NM_001267550.2(TTN):c.32722+8C>T rs765936606 0.00004
NM_001267550.2(TTN):c.34379-14T>C rs727505341 0.00004
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg) rs541811273 0.00004
NM_001267550.2(TTN):c.39276G>A (p.Pro13092=) rs369002632 0.00004
NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile) rs774557269 0.00004
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly) rs190461403 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.41329+9T>C rs779075177 0.00004
NM_001267550.2(TTN):c.41474G>A (p.Arg13825Gln) rs727504774 0.00004
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) rs397517571 0.00004
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=) rs147703145 0.00004
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00004
NM_001267550.2(TTN):c.48270C>T (p.Tyr16090=) rs397517592 0.00004
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His) rs397517593 0.00004
NM_001267550.2(TTN):c.49008G>A (p.Val16336=) rs781078888 0.00004
NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe) rs397517641 0.00004
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=) rs397517604 0.00004
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg) rs368846015 0.00004
NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly) rs397517615 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.55915G>A (p.Val18639Met) rs727503596 0.00004
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn) rs576158850 0.00004
NM_001267550.2(TTN):c.57112-11T>C rs553667328 0.00004
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln) rs186809500 0.00004
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636 0.00004
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp) rs397517640 0.00004
NM_001267550.2(TTN):c.597A>G (p.Val199=) rs144214844 0.00004
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948 0.00004
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His) rs397517652 0.00004
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser) rs375401971 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.65161T>C (p.Cys21721Arg) rs745497694 0.00004
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894 0.00004
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe) rs374736305 0.00004
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp) rs371856109 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.67348+11G>C rs587780982 0.00004
NM_001267550.2(TTN):c.70036C>T (p.Leu23346=) rs397517681 0.00004
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687 0.00004
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00004
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His) rs374712231 0.00004
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp) rs567446185 0.00004
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) rs368759398 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala) rs397517712 0.00004
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588 0.00004
NM_001267550.2(TTN):c.80323G>A (p.Val26775Met) rs370589806 0.00004
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463 0.00004
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00004
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=) rs397517736 0.00004
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=) rs376289479 0.00004
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=) rs727504439 0.00004
NM_001267550.2(TTN):c.91332C>T (p.Asn30444=) rs397517752 0.00004
NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr) rs368427408 0.00004
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val) rs200345129 0.00004
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=) rs373502790 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg) rs727503681 0.00004
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn) rs267599025 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys) rs55915651 0.00004
NM_001267550.2(TTN):c.97464T>C (p.Ser32488=) rs571147766 0.00004
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly) rs55634230 0.00004
NM_001267550.2(TTN):c.98161G>A (p.Val32721Ile) rs533651182 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001267550.2(TTN):c.99102G>C (p.Trp33034Cys) rs397517778 0.00004
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) rs397516450 0.00004
NM_001276345.2(TNNT2):c.601-7G>A rs369759523 0.00004
NM_001276345.2(TNNT2):c.720-7C>T rs376303087 0.00004
NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His) rs554657293 0.00004
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter) rs72657316 0.00004
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met) rs375341444 0.00004
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
NM_001283009.2(RTEL1):c.1596-8G>A rs374702981 0.00004
NM_001286445.3(RIPOR2):c.105G>A (p.Gln35=) rs376465905 0.00004
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_001292063.2(OTOG):c.1343-8C>T rs876657551 0.00004
NM_001292063.2(OTOG):c.1641C>T (p.Gly547=) rs535620249 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001292063.2(OTOG):c.4588C>G (p.Leu1530Val) rs766929865 0.00004
NM_001292063.2(OTOG):c.6350C>T (p.Ala2117Val) rs535700451 0.00004
NM_001292063.2(OTOG):c.6712G>A (p.Gly2238Ser) rs763848795 0.00004
NM_001292063.2(OTOG):c.7890C>T (p.Ser2630=) rs555614943 0.00004
NM_001292063.2(OTOG):c.8472T>C (p.Asp2824=) rs940623349 0.00004
NM_001292063.2(OTOG):c.8653C>T (p.Arg2885Cys) rs185641221 0.00004
NM_001318895.3(FHL2):c.84C>T (p.Cys28=) rs375234968 0.00004
NM_001330.5(CTF1):c.414C>A (p.Ala138=) rs727505121 0.00004
NM_001330691.3(CEP78):c.2107+10C>G rs374257343 0.00004
NM_001330691.3(CEP78):c.284G>A (p.Arg95His) rs371010271 0.00004
NM_001354604.2(MITF):c.666+5T>C rs374067688 0.00004
NM_001368067.1(LDB3):c.348C>T (p.Ala116=) rs397516557 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00004
NM_001376256.1(CRYM):c.343A>G (p.Ile115Val) rs201490017 0.00004
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 0.00004
NM_001378609.3(OTOGL):c.3484G>A (p.Glu1162Lys) rs374891321 0.00004
NM_001378609.3(OTOGL):c.6901A>G (p.Thr2301Ala) rs778901457 0.00004
NM_001379180.1(ESRRB):c.1120+15G>A rs754237725 0.00004
NM_001379180.1(ESRRB):c.460+4C>T rs727503040 0.00004
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val) rs373453298 0.00004
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826 0.00004
NM_001384140.1(PCDH15):c.2811G>A (p.Pro937=) rs1449039709 0.00004
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423 0.00004
NM_001384140.1(PCDH15):c.3667A>T (p.Ile1223Phe) rs752490775 0.00004
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=) rs755305237 0.00004
NM_001384474.1(LOXHD1):c.3061+8G>T rs764128579 0.00004
NM_001384474.1(LOXHD1):c.3855C>T (p.Asp1285=) rs876657496 0.00004
NM_001384474.1(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122 0.00004
NM_001384474.1(LOXHD1):c.5289G>A (p.Thr1763=) rs727503138 0.00004
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met) rs368303635 0.00004
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe) rs563899816 0.00004
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=) rs181548456 0.00004
NM_001384474.1(LOXHD1):c.927G>T (p.Gly309=) rs749677224 0.00004
NM_001386795.1(DTNA):c.1346+5G>C rs397517448 0.00004
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=) rs542483546 0.00004
NM_001393500.2(TOMT):c.92T>G (p.Val31Gly) rs574631765 0.00004
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) rs200653747 0.00004
NM_001613.4(ACTA2):c.607G>A (p.Val203Ile) rs397516684 0.00004
NM_001614.5(ACTG1):c.255C>T (p.Ile85=) rs147001458 0.00004
NM_001614.5(ACTG1):c.803-13C>T rs376658586 0.00004
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091 0.00004
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701 0.00004
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370 0.00004
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr) rs368257724 0.00004
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00004
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919 0.00004
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) rs201845396 0.00004
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) rs727502992 0.00004
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450 0.00004
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) rs2848673 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.1914C>T (p.Asn638=) rs368772249 0.00004
NM_002230.4(JUP):c.2086+14G>A rs727504485 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002294.3(LAMP2):c.1093+2589C>T rs377303143 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558 0.00004
NM_002294.3(LAMP2):c.65-13T>A rs727503121 0.00004
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr) rs556536964 0.00004
NM_002471.4(MYH6):c.297C>T (p.Pro99=) rs751088892 0.00004
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00004
NM_002471.4(MYH6):c.4125C>G (p.Thr1375=) rs876657518 0.00004
NM_002471.4(MYH6):c.5485G>C (p.Glu1829Gln) rs727504626 0.00004
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val) rs373076710 0.00004
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn) rs374692396 0.00004
NM_002473.6(MYH9):c.1686G>A (p.Leu562=) rs199506577 0.00004
NM_002473.6(MYH9):c.2159+6C>T rs748916231 0.00004
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) rs727503289 0.00004
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr) rs532156048 0.00004
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) rs137924205 0.00004
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=) rs183685723 0.00004
NM_002524.5(NRAS):c.291-8G>A rs376187980 0.00004
NM_002755.4(MAP2K1):c.439-8G>A rs747709090 0.00004
NM_002834.5(PTPN11):c.1278C>T (p.His426=) rs886038519 0.00004
NM_002834.5(PTPN11):c.1683G>A (p.Pro561=) rs397516798 0.00004
NM_002880.4(RAF1):c.1663G>C (p.Asp555His) rs371704292 0.00004
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_003036.4(SKI):c.1456G>A (p.Val486Ile) rs200717031 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) rs142019584 0.00004
NM_003803.4(MYOM1):c.3125C>T (p.Pro1042Leu) rs761951856 0.00004
NM_003803.4(MYOM1):c.3523T>G (p.Tyr1175Asp) rs370276820 0.00004
NM_003803.4(MYOM1):c.4672T>C (p.Phe1558Leu) rs187108957 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_004004.6(GJB2):c.-30C>T rs397516867 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820 0.00004
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004006.3(DMD):c.1159A>G (p.Met387Val) rs770202940 0.00004
NM_004006.3(DMD):c.1503A>G (p.Glu501=) rs770464589 0.00004
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser) rs755456119 0.00004
NM_004006.3(DMD):c.4234-12T>C rs757851097 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu) rs144717862 0.00004
NM_004006.3(DMD):c.6118-13T>G rs750033728 0.00004
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala) rs181284440 0.00004
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) rs748731866 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004100.5(EYA4):c.741A>G (p.Pro247=) rs752226573 0.00004
NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg) rs139097585 0.00004
NM_004281.4(BAG3):c.181-15C>T rs397516882 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) rs397516928 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu) rs397516947 0.00004
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) rs550818559 0.00004
NM_004415.4(DSP):c.596G>A (p.Arg199Lys) rs143648545 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004447.6(EPS8):c.1449A>C (p.Ser483=) rs140797755 0.00004
NM_004447.6(EPS8):c.646C>G (p.Pro216Ala) rs201875630 0.00004
NM_004568.6(SERPINB6):c.378C>T (p.Ala126=) rs752725436 0.00004
NM_004568.6(SERPINB6):c.460T>G (p.Ser154Ala) rs727503416 0.00004
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp) rs397516631 0.00004
NM_004985.5(KRAS):c.451-5518T>C rs752925099 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp) rs371850672 0.00004
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu) rs533554769 0.00004
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp) rs397507497 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys) rs746795014 0.00004
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809 0.00004
NM_005219.5(DIAPH1):c.2538A>G (p.Val846=) rs973415272 0.00004
NM_005343.4(HRAS):c.249C>T (p.Ala83=) rs111372582 0.00004
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005379.4(MYO1A):c.1333-8C>T rs727505302 0.00004
NM_005379.4(MYO1A):c.1678C>G (p.Pro560Ala) rs140586750 0.00004
NM_005379.4(MYO1A):c.1928G>A (p.Arg643Gln) rs200450661 0.00004
NM_005379.4(MYO1A):c.2316C>T (p.Ala772=) rs147832651 0.00004
NM_005422.4(TECTA):c.1327C>T (p.His443Tyr) rs745831106 0.00004
NM_005422.4(TECTA):c.2358G>A (p.Ser786=) rs145498566 0.00004
NM_005422.4(TECTA):c.240C>T (p.Ser80=) rs142064539 0.00004
NM_005422.4(TECTA):c.2794G>C (p.Val932Leu) rs200340759 0.00004
NM_005422.4(TECTA):c.358G>T (p.Ala120Ser) rs370688947 0.00004
NM_005422.4(TECTA):c.5007G>T (p.Gln1669His) rs1047688327 0.00004
NM_005422.4(TECTA):c.613G>C (p.Val205Leu) rs375107647 0.00004
NM_005422.4(TECTA):c.956C>A (p.Thr319Asn) rs372483012 0.00004
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr) rs765329541 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00004
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val) rs760917490 0.00004
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) rs151244358 0.00004
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) rs71524356 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.2299A>C (p.Ile767Leu) rs779199009 0.00004
NM_006005.3(WFS1):c.2334C>T (p.Thr778=) rs71526460 0.00004
NM_006005.3(WFS1):c.2355C>T (p.Ser785=) rs201731358 0.00004
NM_006005.3(WFS1):c.375C>T (p.Thr125=) rs762324196 0.00004
NM_006079.5(CITED2):c.382C>T (p.Pro128Ser) rs767546559 0.00004
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) rs748522633 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00004
NM_006329.4(FBLN5):c.1318C>T (p.Arg440Trp) rs373274789 0.00004
NM_006393.3(NEBL):c.1008+15G>A rs375728589 0.00004
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369 0.00004
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser) rs375569591 0.00004
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe) rs543765307 0.00004
NM_006393.3(NEBL):c.2347-9C>T rs750957531 0.00004
NM_006393.3(NEBL):c.2445G>A (p.Val815=) rs578252294 0.00004
NM_006393.3(NEBL):c.561G>C (p.Gln187His) rs75301590 0.00004
NM_007078.3(LDB3):c.530C>T (p.Ala177Val) rs397517224 0.00004
NM_007078.3(LDB3):c.689+15T>C rs375094467 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.867C>T (p.Asp289=) rs397517227 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_012208.4(HARS2):c.1077T>G (p.Ala359=) rs776286420 0.00004
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_014000.3(VCL):c.185T>C (p.Val62Ala) rs769799445 0.00004
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) rs565398652 0.00004
NM_014000.3(VCL):c.3092G>A (p.Arg1031Gln) rs397517238 0.00004
NM_014000.3(VCL):c.3373C>T (p.Arg1125Cys) rs373317423 0.00004
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val) rs144770680 0.00004
NM_015340.4(LARS2):c.1104C>G (p.Gly368=) rs747618737 0.00004
NM_015340.4(LARS2):c.1123+8G>C rs770963717 0.00004
NM_015340.4(LARS2):c.2490G>A (p.Pro830=) rs374014256 0.00004
NM_015404.4(WHRN):c.1176C>T (p.Gly392=) rs200276167 0.00004
NM_015404.4(WHRN):c.1417-8G>A rs202228471 0.00004
NM_015404.4(WHRN):c.2073C>T (p.Ser691=) rs768690928 0.00004
NM_015404.4(WHRN):c.2085G>A (p.Glu695=) rs140043085 0.00004
NM_015404.4(WHRN):c.2193C>T (p.Ser731=) rs147358257 0.00004
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00004
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109 0.00004
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys) rs730880989 0.00004
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu) rs876657963 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016239.4(MYO15A):c.4251C>T (p.Ala1417=) rs764113282 0.00004
NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=) rs773598909 0.00004
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=) rs370047914 0.00004
NM_016239.4(MYO15A):c.5934G>A (p.Gln1978=) rs542354280 0.00004
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676 0.00004
NM_016239.4(MYO15A):c.754C>G (p.His252Asp) rs747721069 0.00004
NM_016239.4(MYO15A):c.9025C>T (p.Pro3009Ser) rs751006503 0.00004
NM_016239.4(MYO15A):c.9329G>A (p.Arg3110Gln) rs199900657 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_016366.3(CABP2):c.32G>A (p.Arg11Gln) rs201383534 0.00004
NM_017433.5(MYO3A):c.1725C>G (p.Ser575=) rs201882363 0.00004
NM_017433.5(MYO3A):c.3086A>G (p.Asp1029Gly) rs374226960 0.00004
NM_017433.5(MYO3A):c.4094A>C (p.Gln1365Pro) rs528252728 0.00004
NM_017433.5(MYO3A):c.4350T>C (p.Ile1450=) rs397517294 0.00004
NM_017433.5(MYO3A):c.743C>G (p.Pro248Arg) rs780657075 0.00004
NM_017460.6(CYP3A4):c.1463C>A (p.Pro488His) rs765598920 0.00004
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594 0.00004
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr) rs368609862 0.00004
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) rs1329751221 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_020297.4(ABCC9):c.*5G>C rs876657736 0.00004
NM_020297.4(ABCC9):c.-11T>C rs72559432 0.00004
NM_020297.4(ABCC9):c.2157C>T (p.Leu719=) rs201848437 0.00004
NM_020297.4(ABCC9):c.816+11G>A rs200986421 0.00004
NM_022114.4(PRDM16):c.2940-15G>A rs538723120 0.00004
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920 0.00004
NM_022124.6(CDH23):c.1450-10G>A rs751220612 0.00004
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1620C>T (p.Gly540=) rs374231594 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln) rs200263980 0.00004
NM_022124.6(CDH23):c.2500C>T (p.Arg834Cys) rs372387390 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val) rs779133533 0.00004
NM_022124.6(CDH23):c.4210-13C>T rs377079875 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.499G>A (p.Val167Ile) rs772995621 0.00004
NM_022124.6(CDH23):c.5025C>T (p.Val1675=) rs775157930 0.00004
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901 0.00004
NM_022124.6(CDH23):c.5713-9A>G rs397517343 0.00004
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His) rs558551826 0.00004
NM_022124.6(CDH23):c.5919C>T (p.Pro1973=) rs752519912 0.00004
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) rs397517347 0.00004
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) rs368381520 0.00004
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) rs537971045 0.00004
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210 0.00004
NM_022124.6(CDH23):c.623C>T (p.Thr208Ile) rs749123528 0.00004
NM_022124.6(CDH23):c.6655G>A (p.Asp2219Asn) rs555684781 0.00004
NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg) rs373649718 0.00004
NM_022124.6(CDH23):c.9511-7T>C rs531195164 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) rs140111105 0.00004
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile) rs750750518 0.00004
NM_024306.5(FA2H):c.620C>T (p.Thr207Met) rs372445274 0.00004
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg) rs397517384 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00004
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394 0.00004
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) rs727502980 0.00004
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534 0.00004
NM_024422.6(DSC2):c.776-12T>G rs397517403 0.00004
NM_024915.4(GRHL2):c.1212A>G (p.Lys404=) rs202007390 0.00004
NM_024915.4(GRHL2):c.1348T>A (p.Ser450Thr) rs141136371 0.00004
NM_024915.4(GRHL2):c.83C>G (p.Ala28Gly) rs561693958 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.289A>T (p.Ile97Phe) rs373579939 0.00004
NM_030662.4(MAP2K2):c.93-6C>T rs727504836 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_031475.3(ESPN):c.1947G>A (p.Thr649=) rs377497281 0.00004
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe) rs533184563 0.00004
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) rs576429729 0.00004
NM_032119.4(ADGRV1):c.1292C>T (p.Ala431Val) rs111723628 0.00004
NM_032119.4(ADGRV1):c.14043+7C>T rs563519322 0.00004
NM_032119.4(ADGRV1):c.14889G>A (p.Thr4963=) rs370103595 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=) rs752223599 0.00004
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=) rs201516498 0.00004
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys) rs766007827 0.00004
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394 0.00004
NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr) rs201999622 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_032119.4(ADGRV1):c.854G>A (p.Arg285His) rs397517439 0.00004
NM_032119.4(ADGRV1):c.8591C>T (p.Thr2864Met) rs397517440 0.00004
NM_032229.3(SLITRK6):c.663C>T (p.Ala221=) rs201618207 0.00004
NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser) rs751325113 0.00004
NM_032495.6(HOPX):c.124G>A (p.Val42Ile) rs483353075 0.00004
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His) rs531222847 0.00004
NM_032790.4(ORAI1):c.540C>T (p.Thr180=) rs782560001 0.00004
NM_033056.4(PCDH15):c.4837G>A (p.Gly1613Arg) rs876657563 0.00004
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666 0.00004
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364 0.00004
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_033118.4(MYLK2):c.558G>A (p.Thr186=) rs140695242 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_057176.3(BSND):c.177+7G>A rs368723796 0.00004
NM_057176.3(BSND):c.315C>T (p.Ala105=) rs757808729 0.00004
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892 0.00004
NM_080680.3(COL11A2):c.1136G>A (p.Arg379Gln) rs150429851 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.4026C>T (p.Gly1342=) rs778423110 0.00004
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu) rs763995767 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_133261.3(GIPC3):c.213C>A (p.Ile71=) rs876657467 0.00004
NM_133379.5(TTN):c.10645C>T (p.Arg3549Cys) rs201047740 0.00004
NM_133379.5(TTN):c.12007C>T (p.Leu4003Phe) rs200550488 0.00004
NM_133379.5(TTN):c.13951A>G (p.Ser4651Gly) rs190193836 0.00004
NM_133379.5(TTN):c.14331G>C (p.Gly4777=) rs397517813 0.00004
NM_133379.5(TTN):c.14399G>A (p.Gly4800Glu) rs565140436 0.00004
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys) rs776361113 0.00004
NM_133379.5(TTN):c.14881C>T (p.Arg4961Cys) rs565101305 0.00004
NM_133379.5(TTN):c.15182G>A (p.Arg5061Lys) rs727503664 0.00004
NM_133379.5(TTN):c.15755A>G (p.Glu5252Gly) rs727503663 0.00004
NM_133379.5(TTN):c.15782T>C (p.Ile5261Thr) rs375197115 0.00004
NM_133379.5(TTN):c.15926A>G (p.Glu5309Gly) rs150017914 0.00004
NM_133379.5(TTN):c.16471A>C (p.Met5491Leu) rs191751905 0.00004
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter) rs876657728 0.00004
NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg) rs150737570 0.00004
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile) rs727503424 0.00004
NM_144573.4(NEXN):c.1065T>C (p.Asp355=) rs369897647 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_144573.4(NEXN):c.249G>A (p.Glu83=) rs372532824 0.00004
NM_144573.4(NEXN):c.836G>A (p.Arg279His) rs750349053 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144672.4(OTOA):c.1807G>T (p.Val603Phe) rs775686301 0.00004
NM_144672.4(OTOA):c.2133C>T (p.His711=) rs201907941 0.00004
NM_144672.4(OTOA):c.645G>A (p.Val215=) rs759683702 0.00004
NM_144991.3(TSPEAR):c.1079A>G (p.Lys360Arg) rs375829414 0.00004
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) rs782088056 0.00004
NM_144991.3(TSPEAR):c.1856+13C>T rs781882860 0.00004
NM_152594.3(SPRED1):c.424-5A>G rs752656697 0.00004
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111 0.00004
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu) rs371994634 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.1698+25C>T rs727504435 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.837G>A (p.Glu279=) rs727505198 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_173477.5(USH1G):c.972T>C (p.Ser324=) rs773660538 0.00004
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg) rs111033434 0.00004
NM_174878.3(CLRN1):c.254-2054G>C rs185457278 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_178335.3(CCDC50):c.153G>A (p.Leu51=) rs201015131 0.00004
NM_178335.3(CCDC50):c.353A>G (p.Glu118Gly) rs753554570 0.00004
NM_194248.3(OTOF):c.1221C>T (p.Pro407=) rs727504716 0.00004
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
NM_194248.3(OTOF):c.1800G>A (p.Ser600=) rs397517936 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.2520C>T (p.Asp840=) rs147061068 0.00004
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424 0.00004
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_194248.3(OTOF):c.4185C>T (p.Ser1395=) rs148819838 0.00004
NM_194248.3(OTOF):c.4500+11C>T rs727503353 0.00004
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547 0.00004
NM_198253.3(TERT):c.2793C>T (p.Cys931=) rs764925909 0.00004
NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter) rs752864722 0.00004
NM_201384.3(PLEC):c.6667C>T (p.Arg2223Cys) rs200620255 0.00004
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn) rs111033515 0.00004
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170 0.00004
NM_206933.4(USH2A):c.12895A>C (p.Arg4299=) rs1197075904 0.00004
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092 0.00004
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser) rs200993435 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209 0.00004
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347 0.00004
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397 0.00004
NM_206933.4(USH2A):c.3811+10C>A rs769756794 0.00004
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His) rs374449657 0.00004
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117 0.00004
NM_206933.4(USH2A):c.6765C>T (p.Asp2255=) rs767205760 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136 0.00004
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) rs727503340 0.00004
NM_000038.6(APC):c.1904G>C (p.Gly635Ala) rs730881239 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000090.4(COL3A1):c.1509+2T>C rs1553508039 0.00003
NM_000091.5(COL4A3):c.4191A>G (p.Gly1397=) rs749383198 0.00003
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317 0.00003
NM_000092.5(COL4A4):c.888G>A (p.Gly296=) rs746239973 0.00003
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743 0.00003
NM_000138.5(FBN1):c.164+5A>G rs397515760 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000179.3(MSH6):c.3604A>T (p.Met1202Leu) rs369778514 0.00003
NM_000195.5(HPS1):c.1239G>T (p.Pro413=) rs777125097 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787 0.00003
NM_000218.3(KCNQ1):c.1794+12C>G rs727505084 0.00003
NM_000218.3(KCNQ1):c.181C>A (p.Pro61Thr) rs1273257287 0.00003
NM_000218.3(KCNQ1):c.484G>A (p.Val162Met) rs199472692 0.00003
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=) rs148566141 0.00003
NM_000219.6(KCNE1):c.-13C>T rs745925445 0.00003
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) rs199473351 0.00003
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000219.6(KCNE1):c.172A>C (p.Thr58Pro) rs147187721 0.00003
NM_000219.6(KCNE1):c.176T>C (p.Leu59Pro) rs141813529 0.00003
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360 0.00003
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln) rs150454912 0.00003
NM_000219.6(KCNE1):c.297C>G (p.Val99=) rs780553669 0.00003
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) rs780656919 0.00003
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu) rs63750226 0.00003
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln) rs63749900 0.00003
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser) rs397515881 0.00003
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp) rs727504249 0.00003
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys) rs373638535 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1308C>T (p.Cys436=) rs759826878 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp) rs730880549 0.00003
NM_000256.3(MYBPC3):c.1758C>T (p.Pro586=) rs727505203 0.00003
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2178C>T (p.Arg726=) rs370676057 0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000256.3(MYBPC3):c.2308+12C>T rs727505335 0.00003
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln) rs397515986 0.00003
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln) rs727504346 0.00003
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu) rs730880610 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325 0.00003
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile) rs542350927 0.00003
NM_000256.3(MYBPC3):c.373G>T (p.Ala125Ser) rs370958401 0.00003
NM_000256.3(MYBPC3):c.3777G>A (p.Gln1259=) rs746042492 0.00003
NM_000256.3(MYBPC3):c.405A>G (p.Lys135=) rs727504318 0.00003
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys) rs397516069 0.00003
NM_000256.3(MYBPC3):c.758A>G (p.Asn253Ser) rs727503214 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys) rs397516086 0.00003
NM_000257.4(MYH7):c.1608G>A (p.Glu536=) rs397516115 0.00003
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln) rs397516117 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys) rs558673680 0.00003
NM_000257.4(MYH7):c.2658C>T (p.Asp886=) rs765948561 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.3337-10G>A rs397516181 0.00003
NM_000257.4(MYH7):c.3666C>T (p.Ser1222=) rs397516191 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys) rs45511396 0.00003
NM_000257.4(MYH7):c.5088G>C (p.Glu1696Asp) rs373219734 0.00003
NM_000257.4(MYH7):c.5656-5C>T rs200231434 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000257.4(MYH7):c.733-9T>C rs944780538 0.00003
NM_000257.4(MYH7):c.895+12C>T rs186276057 0.00003
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys) rs377026344 0.00003
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940 0.00003
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr) rs201046979 0.00003
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339 0.00003
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr) rs782726270 0.00003
NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu) rs1357072694 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly) rs377391891 0.00003
NM_000260.4(MYO7A):c.440G>A (p.Arg147His) rs111033512 0.00003
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=) rs376743356 0.00003
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000260.4(MYO7A):c.4910A>G (p.His1637Arg) rs372054499 0.00003
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) rs574917232 0.00003
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359 0.00003
NM_000260.4(MYO7A):c.593-4G>A rs876657534 0.00003
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000307.5(POU3F4):c.353C>T (p.Pro118Leu) rs760582733 0.00003
NM_000307.5(POU3F4):c.483C>A (p.Ser161Arg) rs727503376 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000335.5(SCN5A):c.1188C>T (p.Val396=) rs749683415 0.00003
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112 0.00003
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=) rs755980331 0.00003
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=) rs372132916 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu) rs199473250 0.00003
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr) rs373410109 0.00003
NM_000335.5(SCN5A):c.5371G>A (p.Asp1791Asn) rs727504495 0.00003
NM_000337.6(SGCD):c.-44G>T rs727503420 0.00003
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys) rs768979513 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr) rs374618872 0.00003
NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr) rs531273434 0.00003
NM_000395.3(CSF2RB):c.1107C>G (p.Asp369Glu) rs139685237 0.00003
NM_000395.3(CSF2RB):c.673C>T (p.Arg225Cys) rs145546133 0.00003
NM_000414.4(HSD17B4):c.1452A>G (p.Ile484Met) rs376158204 0.00003
NM_000414.4(HSD17B4):c.1663A>G (p.Arg555Gly) rs561555159 0.00003
NM_000414.4(HSD17B4):c.264T>C (p.Asp88=) rs763999607 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.1545-7del rs727503427 0.00003
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=) rs573894071 0.00003
NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr) rs397516425 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.871C>T (p.Arg291Trp) rs775610413 0.00003
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln) rs587782364 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp) rs376931849 0.00003
NM_000503.6(EYA1):c.1425C>T (p.Thr475=) rs727503043 0.00003
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn) rs371408686 0.00003
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser) rs1563422226 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000546.6(TP53):c.188C>G (p.Ala63Gly) rs372201428 0.00003
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406 0.00003
NM_000601.6(HGF):c.659G>A (p.Arg220Gln) rs372600489 0.00003
NM_000720.4(CACNA1D):c.1502C>T (p.Ala501Val) rs748425556 0.00003
NM_001002295.2(GATA3):c.213G>C (p.Thr71=) rs767609253 0.00003
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=) rs397516984 0.00003
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001018005.2(TPM1):c.240+4430G>A rs397516490 0.00003
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001018005.2(TPM1):c.549T>C (p.Ala183=) rs199476313 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001018116.2(CAVIN4):c.84C>T (p.Asp28=) rs745781742 0.00003
NM_001031679.3(MSRB3):c.198A>C (p.Gly66=) rs183150969 0.00003
NM_001032283.3(TMPO):c.1174C>T (p.Pro392Ser) rs727504622 0.00003
NM_001032283.3(TMPO):c.565+1301A>G rs375249647 0.00003
NM_001032283.3(TMPO):c.565+1917A>G rs727505217 0.00003
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130 0.00003
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr) rs397516514 0.00003
NM_001035.3(RYR2):c.1477-8C>T rs876657575 0.00003
NM_001035.3(RYR2):c.4410A>G (p.Gly1470=) rs727503399 0.00003
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537 0.00003
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr) rs761505396 0.00003
NM_001035.3(RYR2):c.719A>G (p.His240Arg) rs369512347 0.00003
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825 0.00003
NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu) rs727503161 0.00003
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val) rs781135139 0.00003
NM_001039141.3(TRIOBP):c.6170G>A (p.Arg2057His) rs377068258 0.00003
NM_001039141.3(TRIOBP):c.6830G>A (p.Arg2277Gln) rs775565659 0.00003
NM_001039213.4(CEACAM16):c.1104A>G (p.Gly368=) rs750455256 0.00003
NM_001039213.4(CEACAM16):c.970G>A (p.Val324Met) rs747285667 0.00003
NM_001039876.3(SYNE4):c.1032-2A>T rs202107534 0.00003
NM_001039876.3(SYNE4):c.940C>T (p.His314Tyr) rs886101498 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=) rs864622298 0.00003
NM_001042492.3(NF1):c.861C>T (p.Asp287=) rs749949219 0.00003
NM_001042545.2(LTBP4):c.4165C>T (p.Pro1389Ser) rs766093064 0.00003
NM_001042702.5(PJVK):c.212-12C>A rs199967536 0.00003
NM_001042702.5(PJVK):c.437G>A (p.Arg146His) rs369805509 0.00003
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540 0.00003
NM_001089.3(ABCA3):c.2140C>T (p.Arg714Cys) rs867072001 0.00003
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001103.4(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001105206.3(LAMA4):c.1358-12A>G rs397516716 0.00003
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp) rs782319667 0.00003
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr) rs576711704 0.00003
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837 0.00003
NM_001127453.2(GSDME):c.553G>A (p.Gly185Ser) rs376265514 0.00003
NM_001127453.2(GSDME):c.687C>T (p.Asp229=) rs371054976 0.00003
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) rs370001536 0.00003
NM_001128840.3(CACNA1D):c.1750G>A (p.Val584Ile) rs773365038 0.00003
NM_001128840.3(CACNA1D):c.4575G>A (p.Arg1525=) rs371203266 0.00003
NM_001128840.3(CACNA1D):c.6215G>A (p.Gly2072Glu) rs770605004 0.00003
NM_001134363.3(RBM20):c.-6C>T rs397516589 0.00003
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=) rs397516590 0.00003
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=) rs397516605 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001145809.2(MYH14):c.1626G>A (p.Leu542=) rs727504565 0.00003
NM_001145809.2(MYH14):c.1655C>T (p.Pro552Leu) rs727505282 0.00003
NM_001145809.2(MYH14):c.3259C>T (p.Arg1087Trp) rs368372273 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001145809.2(MYH14):c.4056G>A (p.Gly1352=) rs549322167 0.00003
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001145809.2(MYH14):c.4107C>T (p.Ser1369=) rs372927021 0.00003
NM_001145809.2(MYH14):c.4370G>A (p.Arg1457Gln) rs727503224 0.00003
NM_001145809.2(MYH14):c.4393C>T (p.Arg1465Cys) rs727505272 0.00003
NM_001145809.2(MYH14):c.4433G>A (p.Arg1478Gln) rs757168957 0.00003
NM_001145809.2(MYH14):c.4441C>T (p.Arg1481Cys) rs727503227 0.00003
NM_001145809.2(MYH14):c.4539+10C>T rs561531825 0.00003
NM_001145809.2(MYH14):c.5446C>T (p.Arg1816Cys) rs376798395 0.00003
NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser) rs925832623 0.00003
NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr) rs202192219 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) rs201174513 0.00003
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=) rs575173753 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001199799.2(ILDR1):c.1360G>A (p.Glu454Lys) rs727503097 0.00003
NM_001199799.2(ILDR1):c.1537C>T (p.Arg513Cys) rs767668911 0.00003
NM_001199799.2(ILDR1):c.451G>A (p.Gly151Arg) rs727503098 0.00003
NM_001199799.2(ILDR1):c.80C>T (p.Thr27Met) rs145984650 0.00003
NM_001206927.2(DNAH8):c.8053G>C (p.Ala2685Pro) rs373111234 0.00003
NM_001232.4(CASQ2):c.234+3A>G rs727502909 0.00003
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser) rs727504510 0.00003
NM_001256317.3(TMPRSS3):c.1191+11G>A rs727505305 0.00003
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678 0.00003
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp) rs373754986 0.00003
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His) rs550047610 0.00003
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) rs371528685 0.00003
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln) rs397517788 0.00003
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=) rs397517790 0.00003
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met) rs727504540 0.00003
NM_001267550.2(TTN):c.10682A>G (p.Gln3561Arg) rs727503676 0.00003
NM_001267550.2(TTN):c.107009G>C (p.Arg35670Thr) rs534961012 0.00003
NM_001267550.2(TTN):c.107285G>A (p.Arg35762Gln) rs397517800 0.00003
NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn) rs727503661 0.00003
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val) rs727503659 0.00003
NM_001267550.2(TTN):c.1398+5G>A rs542965530 0.00003
NM_001267550.2(TTN):c.15778C>A (p.Pro5260Thr) rs727505108 0.00003
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly) rs760722200 0.00003
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=) rs727504441 0.00003
NM_001267550.2(TTN):c.1816A>G (p.Arg606Gly) rs397517498 0.00003
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=) rs375032616 0.00003
NM_001267550.2(TTN):c.19054A>G (p.Arg6352Gly) rs569003242 0.00003
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051 0.00003
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492 0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.22240+7A>C rs368101794 0.00003
NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly) rs372826489 0.00003
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser) rs727505333 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.2397G>A (p.Thr799=) rs369313128 0.00003
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys) rs149155733 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.25002T>C (p.Tyr8334=) rs371334680 0.00003
NM_001267550.2(TTN):c.25046C>G (p.Ala8349Gly) rs397517513 0.00003
NM_001267550.2(TTN):c.26020G>A (p.Val8674Ile) rs375710902 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg) rs372820178 0.00003
NM_001267550.2(TTN):c.28818C>T (p.Tyr9606=) rs374117152 0.00003
NM_001267550.2(TTN):c.30129T>C (p.His10043=) rs764724866 0.00003
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) rs367901929 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val) rs766003250 0.00003
NM_001267550.2(TTN):c.32555-12G>T rs397517540 0.00003
NM_001267550.2(TTN):c.32888-3C>A rs397517544 0.00003
NM_001267550.2(TTN):c.34894C>A (p.Leu11632Ile) rs727503633 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.44281+8T>C rs369121980 0.00003
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys) rs397517577 0.00003
NM_001267550.2(TTN):c.44592C>T (p.Val14864=) rs397517578 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00003
NM_001267550.2(TTN):c.48021C>T (p.Asp16007=) rs368404578 0.00003
NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala) rs745999025 0.00003
NM_001267550.2(TTN):c.49366C>T (p.Arg16456Cys) rs727504986 0.00003
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=) rs727505248 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.50479C>T (p.Arg16827Trp) rs727503620 0.00003
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln) rs72677250 0.00003
NM_001267550.2(TTN):c.5192A>G (p.Asp1731Gly) rs876658072 0.00003
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile) rs567781604 0.00003
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.5423A>C (p.Glu1808Ala) rs746238242 0.00003
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=) rs368272978 0.00003
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn) rs367799017 0.00003
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=) rs200864020 0.00003
NM_001267550.2(TTN):c.55973G>A (p.Arg18658Gln) rs370888932 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys) rs397517658 0.00003
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu) rs876658069 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.59114G>A (p.Arg19705His) rs727503590 0.00003
NM_001267550.2(TTN):c.60975C>T (p.Ile20325=) rs727505195 0.00003
NM_001267550.2(TTN):c.61631A>G (p.His20544Arg) rs876658073 0.00003
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His) rs727503587 0.00003
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891 0.00003
NM_001267550.2(TTN):c.62761C>A (p.Pro20921Thr) rs935268567 0.00003
NM_001267550.2(TTN):c.63330G>A (p.Ala21110=) rs727504885 0.00003
NM_001267550.2(TTN):c.64193T>G (p.Ile21398Ser) rs727504754 0.00003
NM_001267550.2(TTN):c.64241G>A (p.Arg21414His) rs727504690 0.00003
NM_001267550.2(TTN):c.65371G>A (p.Gly21791Ser) rs370878527 0.00003
NM_001267550.2(TTN):c.66804G>A (p.Arg22268=) rs370501197 0.00003
NM_001267550.2(TTN):c.67537T>C (p.Leu22513=) rs727504507 0.00003
NM_001267550.2(TTN):c.68272G>A (p.Asp22758Asn) rs397517675 0.00003
NM_001267550.2(TTN):c.68449C>A (p.Arg22817=) rs371678190 0.00003
NM_001267550.2(TTN):c.68525T>C (p.Ile22842Thr) rs368301580 0.00003
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg) rs773592810 0.00003
NM_001267550.2(TTN):c.70477A>T (p.Thr23493Ser) rs375675901 0.00003
NM_001267550.2(TTN):c.70967C>T (p.Pro23656Leu) rs368938701 0.00003
NM_001267550.2(TTN):c.71981C>T (p.Ala23994Val) rs772886864 0.00003
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val) rs876658080 0.00003
NM_001267550.2(TTN):c.72C>G (p.Thr24=) rs876657615 0.00003
NM_001267550.2(TTN):c.74112T>C (p.Ser24704=) rs397517697 0.00003
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) rs754043680 0.00003
NM_001267550.2(TTN):c.75274G>A (p.Glu25092Lys) rs397517700 0.00003
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys) rs397517701 0.00003
NM_001267550.2(TTN):c.76199G>C (p.Cys25400Ser) rs397517704 0.00003
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=) rs375553630 0.00003
NM_001267550.2(TTN):c.77035A>C (p.Asn25679His) rs770512378 0.00003
NM_001267550.2(TTN):c.78062C>G (p.Pro26021Arg) rs727504982 0.00003
NM_001267550.2(TTN):c.81178G>T (p.Asp27060Tyr) rs372875889 0.00003
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu) rs761633407 0.00003
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr) rs374022393 0.00003
NM_001267550.2(TTN):c.89893A>G (p.Ile29965Val) rs370135800 0.00003
NM_001267550.2(TTN):c.91731C>T (p.Asp30577=) rs727505073 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His) rs727504923 0.00003
NM_001267550.2(TTN):c.93570T>C (p.Asn31190=) rs746309005 0.00003
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr) rs727505175 0.00003
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) rs541040798 0.00003
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met) rs727503543 0.00003
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) rs150930737 0.00003
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys) rs727503542 0.00003
NM_001267550.2(TTN):c.96310+11T>C rs397517764 0.00003
NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys) rs371249764 0.00003
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=) rs141431591 0.00003
NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser) rs397517791 0.00003
NM_001267550.2(TTN):c.97111A>G (p.Ile32371Val) rs397517766 0.00003
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu) rs397517792 0.00003
NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg) rs727505311 0.00003
NM_001267550.2(TTN):c.98292A>G (p.Glu32764=) rs750078230 0.00003
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) rs191708454 0.00003
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu) rs201379132 0.00003
NM_001267550.2(TTN):c.99290-6G>T rs727504987 0.00003
NM_001267550.2(TTN):c.99405C>T (p.Tyr33135=) rs373722322 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001276345.2(TNNT2):c.810+6C>T rs727504260 0.00003
NM_001277115.2(DNAH11):c.68C>T (p.Ser23Leu) rs745842220 0.00003
NM_001277115.2(DNAH11):c.8647G>A (p.Glu2883Lys) rs752605468 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001286445.3(RIPOR2):c.375G>T (p.Leu125=) rs375464333 0.00003
NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln) rs782206421 0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_001292063.2(OTOG):c.2276C>T (p.Ala759Val) rs876657937 0.00003
NM_001292063.2(OTOG):c.292+15C>T rs876657554 0.00003
NM_001292063.2(OTOG):c.4129C>T (p.Arg1377Cys) rs764931529 0.00003
NM_001292063.2(OTOG):c.4170G>A (p.Ser1390=) rs765085598 0.00003
NM_001292063.2(OTOG):c.6037C>T (p.Arg2013Cys) rs757086717 0.00003
NM_001292063.2(OTOG):c.6219C>T (p.Pro2073=) rs876657557 0.00003
NM_001292063.2(OTOG):c.764C>T (p.Ser255Leu) rs939158613 0.00003
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=) rs200809116 0.00003
NM_001292063.2(OTOG):c.8571C>T (p.Cys2857=) rs1166068398 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001318895.3(FHL2):c.462T>C (p.Tyr154=) rs397517960 0.00003
NM_001330.5(CTF1):c.145-10G>A rs397516645 0.00003
NM_001330.5(CTF1):c.469G>A (p.Ala157Thr) rs876657768 0.00003
NM_001349253.2(SCN11A):c.1095T>G (p.Tyr365Ter) rs1440766335 0.00003
NM_001354604.2(MITF):c.105-12836C>T rs779387274 0.00003
NM_001354604.2(MITF):c.1179+4C>T rs749869303 0.00003
NM_001354604.2(MITF):c.881-9C>G rs766938558 0.00003
NM_001363118.2(SLC52A2):c.1293C>T (p.His431=) rs184190914 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter) rs781333877 0.00003
NM_001378454.1(ALMS1):c.11696A>G (p.Lys3899Arg) rs1347288383 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly) rs560736902 0.00003
NM_001378609.3(OTOGL):c.4746T>A (p.Asn1582Lys) rs910949216 0.00003
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) rs752185665 0.00003
NM_001384140.1(PCDH15):c.128T>C (p.Ile43Thr) rs766772151 0.00003
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser) rs373731707 0.00003
NM_001384140.1(PCDH15):c.2379T>C (p.Asp793=) rs148920891 0.00003
NM_001384140.1(PCDH15):c.2538C>T (p.Val846=) rs727504573 0.00003
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187 0.00003
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu) rs534173969 0.00003
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser) rs727503368 0.00003
NM_001384140.1(PCDH15):c.4758G>A (p.Gln1586=) rs368096085 0.00003
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys) rs565693539 0.00003
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg) rs727503367 0.00003
NM_001384474.1(LOXHD1):c.1752G>A (p.Thr584=) rs558087385 0.00003
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788 0.00003
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125 0.00003
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=) rs761010290 0.00003
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144 0.00003
NM_001384474.1(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519 0.00003
NM_001384474.1(LOXHD1):c.3293A>G (p.Asn1098Ser) rs876657494 0.00003
NM_001384474.1(LOXHD1):c.3816G>A (p.Thr1272=) rs1031241585 0.00003
NM_001384474.1(LOXHD1):c.4671G>A (p.Leu1557=) rs763078543 0.00003
NM_001384474.1(LOXHD1):c.5095G>A (p.Asp1699Asn) rs727504848 0.00003
NM_001384474.1(LOXHD1):c.5170A>T (p.Met1724Leu) rs200930427 0.00003
NM_001384474.1(LOXHD1):c.5623G>A (p.Val1875Ile) rs367623969 0.00003
NM_001384474.1(LOXHD1):c.6068A>G (p.Glu2023Gly) rs572863376 0.00003
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val) rs141749060 0.00003
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter) rs1250997630 0.00003
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219 0.00003
NM_001393500.2(TOMT):c.167A>G (p.His56Arg) rs957857044 0.00003
NM_001393500.2(TOMT):c.681T>G (p.Cys227Trp) rs886048633 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001614.5(ACTG1):c.498C>T (p.Tyr166=) rs373572370 0.00003
NM_001614.5(ACTG1):c.693A>G (p.Ala231=) rs534061526 0.00003
NM_001614.5(ACTG1):c.696C>T (p.Ser232=) rs202155328 0.00003
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467 0.00003
NM_001614.5(ACTG1):c.957C>T (p.Ala319=) rs377745600 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly) rs777642924 0.00003
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) rs727502991 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985 0.00003
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr) rs727502986 0.00003
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711 0.00003
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 0.00003
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128 0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=) rs897549158 0.00003
NM_002230.4(JUP):c.1379G>A (p.Arg460His) rs397517296 0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) rs727504778 0.00003
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179 0.00003
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706 0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063 0.00003
NM_002458.3(MUC5B):c.15238G>A (p.Gly5080Ser) rs200503009 0.00003
NM_002458.3(MUC5B):c.16960G>C (p.Glu5654Gln) rs375272740 0.00003
NM_002458.3(MUC5B):c.2478+8C>A rs369614780 0.00003
NM_002458.3(MUC5B):c.3186G>A (p.Pro1062=) rs78669250 0.00003
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp) rs753444140 0.00003
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg) rs772216708 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002471.4(MYH6):c.3860-15T>G rs200883903 0.00003
NM_002471.4(MYH6):c.4959+12C>T rs371661383 0.00003
NM_002471.4(MYH6):c.5101C>T (p.Arg1701Trp) rs765737102 0.00003
NM_002471.4(MYH6):c.736-9C>T rs748594445 0.00003
NM_002473.6(MYH9):c.193G>A (p.Val65Met) rs377348805 0.00003
NM_002473.6(MYH9):c.2958G>C (p.Gln986His) rs199520053 0.00003
NM_002473.6(MYH9):c.4558-13C>T rs727504948 0.00003
NM_002473.6(MYH9):c.468C>T (p.Thr156=) rs727503293 0.00003
NM_002473.6(MYH9):c.5013C>T (p.Asn1671=) rs367872152 0.00003
NM_002473.6(MYH9):c.5718G>A (p.Thr1906=) rs727504711 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873 0.00003
NM_002691.4(POLD1):c.1157G>A (p.Arg386His) rs764023083 0.00003
NM_002691.4(POLD1):c.1552C>A (p.Leu518Met) rs149043082 0.00003
NM_002691.4(POLD1):c.1955G>A (p.Arg652Gln) rs778037523 0.00003
NM_002691.4(POLD1):c.2954G>C (p.Arg985Pro) rs749159160 0.00003
NM_002691.4(POLD1):c.758+5G>A rs760003191 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) rs147489724 0.00003
NM_002755.4(MAP2K1):c.875C>T (p.Thr292Ile) rs397516794 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002880.4(RAF1):c.1108+15C>T rs727503383 0.00003
NM_002880.4(RAF1):c.63G>A (p.Val21=) rs377377296 0.00003
NM_002905.5(RDH5):c.285G>A (p.Trp95Ter) rs774122562 0.00003
NM_002906.4(RDX):c.1413T>C (p.Pro471=) rs751528863 0.00003
NM_003019.5(SFTPD):c.158G>A (p.Arg53Gln) rs142564545 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003280.3(TNNC1):c.24+13G>T rs748590123 0.00003
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003476.5(CSRP3):c.191G>A (p.Arg64His) rs375014380 0.00003
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val) rs150765181 0.00003
NM_003673.4(TCAP):c.269C>T (p.Pro90Leu) rs727504427 0.00003
NM_003803.4(MYOM1):c.158C>T (p.Ala53Val) rs747035411 0.00003
NM_003803.4(MYOM1):c.2598G>A (p.Pro866=) rs778413922 0.00003
NM_003803.4(MYOM1):c.3038C>T (p.Ala1013Val) rs557671408 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.21G>A (p.Gln7=) rs137932057 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.1332-11C>T rs370927319 0.00003
NM_004006.3(DMD):c.31+83105G>A rs772161214 0.00003
NM_004086.3(COCH):c.35G>A (p.Gly12Asp) rs1213767677 0.00003
NM_004100.5(EYA4):c.1437G>A (p.Arg479=) rs142263016 0.00003
NM_004281.4(BAG3):c.114C>T (p.Phe38=) rs727504929 0.00003
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp) rs548032105 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_004333.6(BRAF):c.622A>G (p.Ile208Val) rs727504571 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_004415.4(DSP):c.1501G>A (p.Val501Ile) rs368778031 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.21C>T (p.Ser7=) rs750532252 0.00003
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu) rs727504657 0.00003
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys) rs778636665 0.00003
NM_004415.4(DSP):c.3015A>G (p.Glu1005=) rs397516930 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val) rs145796901 0.00003
NM_004415.4(DSP):c.485G>T (p.Arg162Leu) rs397516944 0.00003
NM_004415.4(DSP):c.5154G>A (p.Leu1718=) rs376620183 0.00003
NM_004415.4(DSP):c.5899G>A (p.Val1967Met) rs397516949 0.00003
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly) rs760673242 0.00003
NM_004415.4(DSP):c.607G>A (p.Asp203Asn) rs374100807 0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val) rs768837509 0.00003
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe) rs397516958 0.00003
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser) rs397516959 0.00003
NM_004415.4(DSP):c.860A>G (p.Asn287Ser) rs138872423 0.00003
NM_004447.6(EPS8):c.793C>T (p.Arg265Cys) rs749500838 0.00003
NM_004568.6(SERPINB6):c.187G>A (p.Gly63Ser) rs727503417 0.00003
NM_004568.6(SERPINB6):c.313-15C>T rs190603417 0.00003
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696 0.00003
NM_004700.4(KCNQ4):c.1162C>T (p.Arg388Trp) rs371079509 0.00003
NM_004700.4(KCNQ4):c.1201C>T (p.Arg401Trp) rs754165873 0.00003
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) rs766877660 0.00003
NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu) rs727504634 0.00003
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) rs201144827 0.00003
NM_004999.4(MYO6):c.2552A>C (p.Asp851Ala) rs142423106 0.00003
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) rs727505048 0.00003
NM_004999.4(MYO6):c.3236A>G (p.Lys1079Arg) rs753378509 0.00003
NM_004999.4(MYO6):c.3386G>A (p.Arg1129His) rs779885818 0.00003
NM_004999.4(MYO6):c.3679T>C (p.Cys1227Arg) rs370061746 0.00003
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005188.4(CBL):c.1512G>A (p.Pro504=) rs758285751 0.00003
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu) rs143034856 0.00003
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile) rs762016318 0.00003
NM_005219.5(DIAPH1):c.1164-10C>T rs777180488 0.00003
NM_005228.5(EGFR):c.2572C>T (p.Leu858=) rs121913443 0.00003
NM_005343.4(HRAS):c.282C>T (p.His94=) rs375893752 0.00003
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142 0.00003
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168 0.00003
NM_005379.4(MYO1A):c.2162G>A (p.Arg721Gln) rs138855953 0.00003
NM_005379.4(MYO1A):c.2708A>G (p.Asn903Ser) rs146373415 0.00003
NM_005422.4(TECTA):c.1203+3G>A rs774205473 0.00003
NM_005422.4(TECTA):c.1522A>C (p.Thr508Pro) rs772553666 0.00003
NM_005422.4(TECTA):c.2445G>A (p.Thr815=) rs369919747 0.00003
NM_005422.4(TECTA):c.2537G>A (p.Gly846Glu) rs876658014 0.00003
NM_005422.4(TECTA):c.3291C>T (p.Asp1097=) rs763928462 0.00003
NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) rs372087934 0.00003
NM_005422.4(TECTA):c.4097C>T (p.Thr1366Met) rs201860044 0.00003
NM_005422.4(TECTA):c.4167C>T (p.Cys1389=) rs745818507 0.00003
NM_005422.4(TECTA):c.4441A>G (p.Ser1481Gly) rs201946991 0.00003
NM_005422.4(TECTA):c.4802A>G (p.Asn1601Ser) rs758272613 0.00003
NM_005422.4(TECTA):c.5808C>T (p.Leu1936=) rs377039794 0.00003
NM_005422.4(TECTA):c.6033C>T (p.Ile2011=) rs1350403244 0.00003
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00003
NM_005422.4(TECTA):c.878A>G (p.Tyr293Cys) rs185351501 0.00003
NM_005548.3(KARS1):c.1350G>C (p.Glu450Asp) rs200574045 0.00003
NM_005548.3(KARS1):c.157G>A (p.Ala53Thr) rs552944283 0.00003
NM_005548.3(KARS1):c.708G>C (p.Leu236=) rs876657479 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_005633.4(SOS1):c.-15C>T rs727503439 0.00003
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168 0.00003
NM_006005.3(WFS1):c.1184T>A (p.Val395Asp) rs769744865 0.00003
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) rs397517195 0.00003
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met) rs760280308 0.00003
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) rs201102144 0.00003
NM_006005.3(WFS1):c.2531C>T (p.Ala844Val) rs200192011 0.00003
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) rs771391168 0.00003
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158 0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_006012.4(CLPP):c.306G>A (p.Gln102=) rs375563974 0.00003
NM_006073.4(TRDN):c.46G>C (p.Val16Leu) rs974343553 0.00003
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala) rs952211002 0.00003
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_006231.4(POLE):c.6392G>A (p.Arg2131His) rs141954509 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile) rs375265257 0.00003
NM_006393.3(NEBL):c.153+15T>G rs397517204 0.00003
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu) rs200756166 0.00003
NM_006393.3(NEBL):c.903+1G>T rs775057540 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006912.6(RIT1):c.45C>G (p.Pro15=) rs748838734 0.00003
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284 0.00003
NM_006941.4(SOX10):c.207C>T (p.Pro69=) rs199963686 0.00003
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser) rs397517214 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007078.3(LDB3):c.897-10G>A rs77304928 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012208.4(HARS2):c.-4C>G rs876657830 0.00003
NM_012208.4(HARS2):c.145C>T (p.His49Tyr) rs370203603 0.00003
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp) rs370053420 0.00003
NM_012208.4(HARS2):c.643C>T (p.Arg215Trp) rs758323052 0.00003
NM_013296.5(GPSM2):c.-2C>T rs727504726 0.00003
NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu) rs727503087 0.00003
NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr) rs397517232 0.00003
NM_014000.3(VCL):c.1844C>T (p.Ala615Val) rs148669762 0.00003
NM_014000.3(VCL):c.2875A>C (p.Asn959His) rs758969419 0.00003
NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr) rs939028046 0.00003
NM_015340.4(LARS2):c.2214+13C>G rs876657487 0.00003
NM_015404.4(WHRN):c.1596C>T (p.His532=) rs775240892 0.00003
NM_015404.4(WHRN):c.2029A>G (p.Ile677Val) rs758287560 0.00003
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) rs760261757 0.00003
NM_015404.4(WHRN):c.44C>T (p.Thr15Ile) rs727502957 0.00003
NM_015512.5(DNAH1):c.3431G>A (p.Ser1144Asn) rs571987789 0.00003
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val) rs397517274 0.00003
NM_016203.4(PRKAG2):c.864+13C>T rs727505238 0.00003
NM_016239.4(MYO15A):c.1261C>T (p.Pro421Ser) rs762439635 0.00003
NM_016239.4(MYO15A):c.1585C>T (p.His529Tyr) rs200836518 0.00003
NM_016239.4(MYO15A):c.1762C>A (p.Arg588=) rs774157005 0.00003
NM_016239.4(MYO15A):c.3241T>G (p.Trp1081Gly) rs771821256 0.00003
NM_016239.4(MYO15A):c.3640C>A (p.Arg1214=) rs201056676 0.00003
NM_016239.4(MYO15A):c.5028A>G (p.Leu1676=) rs926008291 0.00003
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln) rs780165350 0.00003
NM_016239.4(MYO15A):c.5380C>T (p.Arg1794Cys) rs369109640 0.00003
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp) rs778098806 0.00003
NM_016239.4(MYO15A):c.8225-12G>A rs541139484 0.00003
NM_016239.4(MYO15A):c.9328C>T (p.Arg3110Trp) rs773489275 0.00003
NM_016239.4(MYO15A):c.9702C>T (p.Asp3234=) rs768813635 0.00003
NM_016599.5(MYOZ2):c.768C>A (p.Thr256=) rs727503333 0.00003
NM_017433.5(MYO3A):c.2115-10A>G rs200205050 0.00003
NM_017433.5(MYO3A):c.2719G>A (p.Asp907Asn) rs727503325 0.00003
NM_017433.5(MYO3A):c.472T>C (p.Leu158=) rs1412624643 0.00003
NM_017433.5(MYO3A):c.568T>C (p.Phe190Leu) rs727504671 0.00003
NM_017433.5(MYO3A):c.823C>T (p.Arg275Cys) rs755478240 0.00003
NM_017668.3(NDE1):c.948-3357C>T rs376779423 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) rs796052056 0.00003
NM_017950.4(CCDC40):c.461G>A (p.Arg154Lys) rs751661394 0.00003
NM_017950.4(CCDC40):c.677-8C>T rs762961824 0.00003
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) rs200191497 0.00003
NM_020297.4(ABCC9):c.1012-7G>A rs727502874 0.00003
NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser) rs145455570 0.00003
NM_020297.4(ABCC9):c.1164+10G>A rs876657427 0.00003
NM_020297.4(ABCC9):c.1212C>T (p.Ser404=) rs376726505 0.00003
NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr) rs376874273 0.00003
NM_020297.4(ABCC9):c.4512+693G>A rs876657737 0.00003
NM_020297.4(ABCC9):c.4569T>C (p.Asn1523=) rs727504538 0.00003
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val) rs772283505 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_021167.5(GATAD1):c.603C>T (p.Pro201=) rs150863199 0.00003
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) rs140403642 0.00003
NM_022114.4(PRDM16):c.413C>T (p.Ser138Leu) rs552668116 0.00003
NM_022124.6(CDH23):c.10007C>T (p.Pro3336Leu) rs727504532 0.00003
NM_022124.6(CDH23):c.130G>A (p.Glu44Lys) rs1390133151 0.00003
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val) rs727504914 0.00003
NM_022124.6(CDH23):c.1680C>T (p.Thr560=) rs780822052 0.00003
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg) rs397517311 0.00003
NM_022124.6(CDH23):c.1866C>T (p.Ser622=) rs397517312 0.00003
NM_022124.6(CDH23):c.2032G>A (p.Val678Ile) rs547668692 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997 0.00003
NM_022124.6(CDH23):c.2790G>A (p.Pro930=) rs111033528 0.00003
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn) rs199793172 0.00003
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152 0.00003
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn) rs397517325 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met) rs758413650 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro) rs111033475 0.00003
NM_022124.6(CDH23):c.5328C>T (p.Asn1776=) rs371522191 0.00003
NM_022124.6(CDH23):c.535G>A (p.Ala179Thr) rs371422466 0.00003
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) rs369513655 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.6559G>A (p.Ala2187Thr) rs727504841 0.00003
NM_022124.6(CDH23):c.6949G>T (p.Ala2317Ser) rs727502930 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr) rs397517356 0.00003
NM_022124.6(CDH23):c.8286G>A (p.Ala2762=) rs727504445 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_022124.6(CDH23):c.9070G>A (p.Val3024Met) rs370087572 0.00003
NM_022124.6(CDH23):c.9078G>C (p.Arg3026=) rs727504725 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) rs74315319 0.00003
NM_024009.3(GJB3):c.589G>A (p.Val197Ile) rs376506263 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr) rs766413086 0.00003
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024915.4(GRHL2):c.1081G>A (p.Val361Met) rs770962467 0.00003
NM_024915.4(GRHL2):c.1546C>T (p.Arg516Trp) rs780540983 0.00003
NM_030662.4(MAP2K2):c.1046+4G>A rs1011864039 0.00003
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=) rs374807671 0.00003
NM_030662.4(MAP2K2):c.391G>A (p.Val131Met) rs397517413 0.00003
NM_030662.4(MAP2K2):c.705+10C>T rs372898071 0.00003
NM_031475.3(ESPN):c.1016G>A (p.Arg339Gln) rs148390614 0.00003
NM_031475.3(ESPN):c.2405+12G>A rs876657462 0.00003
NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys) rs397517419 0.00003
NM_032119.4(ADGRV1):c.12148G>A (p.Asp4050Asn) rs576743510 0.00003
NM_032119.4(ADGRV1):c.12202G>A (p.Gly4068Arg) rs760011091 0.00003
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu) rs200957385 0.00003
NM_032119.4(ADGRV1):c.12721G>A (p.Ala4241Thr) rs727504627 0.00003
NM_032119.4(ADGRV1):c.13287T>C (p.Tyr4429=) rs372799791 0.00003
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met) rs375258567 0.00003
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu) rs727504706 0.00003
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn) rs772117132 0.00003
NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu) rs376863164 0.00003
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val) rs201767389 0.00003
NM_032119.4(ADGRV1):c.18775G>T (p.Asp6259Tyr) rs397517428 0.00003
NM_032119.4(ADGRV1):c.5311C>G (p.Gln1771Glu) rs727503074 0.00003
NM_032119.4(ADGRV1):c.5623G>A (p.Gly1875Arg) rs727503075 0.00003
NM_032119.4(ADGRV1):c.6676G>A (p.Glu2226Lys) rs397517433 0.00003
NM_032119.4(ADGRV1):c.7631A>G (p.Glu2544Gly) rs111033523 0.00003
NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly) rs770468449 0.00003
NM_032119.4(ADGRV1):c.9034A>G (p.Thr3012Ala) rs764873763 0.00003
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile) rs764987437 0.00003
NM_032229.3(SLITRK6):c.403C>T (p.Leu135=) rs200025237 0.00003
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=) rs144488384 0.00003
NM_032578.4(MYPN):c.3591C>A (p.Gly1197=) rs876657538 0.00003
NM_032590.5(KDM2B):c.46C>T (p.Arg16Ter) rs376781406 0.00003
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr) rs397517464 0.00003
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176 0.00003
NM_033118.4(MYLK2):c.-13G>A rs397517470 0.00003
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr) rs727503306 0.00003
NM_033337.3(CAV3):c.-15C>A rs569240109 0.00003
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=) rs781337825 0.00003
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) rs765579274 0.00003
NM_057176.3(BSND):c.375T>C (p.Ser125=) rs751676380 0.00003
NM_057176.3(BSND):c.917T>C (p.Leu306Pro) rs139049536 0.00003
NM_080680.3(COL11A2):c.1716T>C (p.His572=) rs533884328 0.00003
NM_080680.3(COL11A2):c.2495G>A (p.Gly832Glu) rs750006299 0.00003
NM_080680.3(COL11A2):c.388C>T (p.Arg130Trp) rs144363465 0.00003
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg) rs571981688 0.00003
NM_080680.3(COL11A2):c.4206C>T (p.Gly1402=) rs201642192 0.00003
NM_080680.3(COL11A2):c.5166G>A (p.Pro1722=) rs768399249 0.00003
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met) rs747064765 0.00003
NM_133261.3(GIPC3):c.875T>C (p.Phe292Ser) rs727503065 0.00003
NM_133261.3(GIPC3):c.915C>T (p.Gly305=) rs142749099 0.00003
NM_133379.5(TTN):c.12109C>T (p.Gln4037Ter) rs761974222 0.00003
NM_133379.5(TTN):c.14790C>G (p.Val4930=) rs370038956 0.00003
NM_133379.5(TTN):c.14911A>G (p.Ile4971Val) rs727504687 0.00003
NM_133379.5(TTN):c.15283T>C (p.Tyr5095His) rs557767596 0.00003
NM_133379.5(TTN):c.16221G>A (p.Pro5407=) rs397517819 0.00003
NM_138691.3(TMC1):c.1018A>G (p.Met340Val) rs771281791 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138691.3(TMC1):c.2192A>G (p.Lys731Arg) rs775993082 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 0.00003
NM_139276.3(STAT3):c.1366-9C>T rs375054973 0.00003
NM_144498.4(OSBPL2):c.30C>T (p.Ala10=) rs374275739 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_144573.4(NEXN):c.379C>T (p.Arg127Cys) rs771113424 0.00003
NM_144672.4(OTOA):c.1353C>T (p.Gly451=) rs374219815 0.00003
NM_144672.4(OTOA):c.661G>A (p.Asp221Asn) rs142693996 0.00003
NM_144672.4(OTOA):c.981-125T>C rs201435154 0.00003
NM_144991.3(TSPEAR):c.1338C>A (p.Gly446=) rs148471285 0.00003
NM_144991.3(TSPEAR):c.1937C>T (p.Thr646Met) rs782251764 0.00003
NM_144991.3(TSPEAR):c.271G>A (p.Val91Ile) rs1555921926 0.00003
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val) rs140778310 0.00003
NM_145309.6(LRRC51):c.115C>T (p.Arg39Ter) rs780299621 0.00003
NM_147196.3(TMIE):c.34G>T (p.Val12Leu) rs397517867 0.00003
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813 0.00003
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu) rs747675437 0.00003
NM_153676.4(USH1C):c.1792C>T (p.Arg598Cys) rs111033520 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00003
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala) rs200779709 0.00003
NM_153676.4(USH1C):c.675-4G>A rs550964012 0.00003
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) rs397517884 0.00003
NM_153700.2(STRC):c.2527A>G (p.Lys843Glu) rs1321776840 0.00003
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser) rs754834213 0.00003
NM_170682.4(P2RX2):c.1234G>C (p.Asp412His) rs374200273 0.00003
NM_170682.4(P2RX2):c.1310G>A (p.Arg437Gln) rs115260724 0.00003
NM_170707.4(LMNA):c.78C>T (p.Ile26=) rs373721390 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_173477.5(USH1G):c.163G>A (p.Gly55Arg) rs397517926 0.00003
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp) rs397517930 0.00003
NM_181426.2(CCDC39):c.2238A>T (p.Gln746His) rs876657752 0.00003
NM_181458.4(PAX3):c.1116T>A (p.Pro372=) rs770424826 0.00003
NM_182548.4(LHFPL5):c.475C>T (p.Arg159Cys) rs755791421 0.00003
NM_194248.3(OTOF):c.100G>A (p.Val34Ile) rs397517933 0.00003
NM_194248.3(OTOF):c.1071C>A (p.Ala357=) rs767723798 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.1930G>A (p.Val644Ile) rs727505153 0.00003
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn) rs147657016 0.00003
NM_194248.3(OTOF):c.2168G>A (p.Arg723His) rs754009907 0.00003
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505 0.00003
NM_194248.3(OTOF):c.3124A>G (p.Met1042Val) rs727505142 0.00003
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) rs749458515 0.00003
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096 0.00003
NM_194248.3(OTOF):c.4343G>A (p.Arg1448His) rs373858563 0.00003
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr) rs772763082 0.00003
NM_194248.3(OTOF):c.4799+1G>A rs200147906 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.80-15C>T rs1487527833 0.00003
NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg) rs750669994 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_201596.3(CACNB2):c.1A>G (p.Met1Val) rs746311834 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.10387+5C>G rs746536041 0.00003
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969 0.00003
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132 0.00003
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala) rs760024584 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg) rs370430107 0.00003
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln) rs372436408 0.00003
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=) rs747065891 0.00003
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096 0.00003
NM_206933.4(USH2A):c.627G>A (p.Lys209=) rs146402815 0.00003
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=) rs773159617 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) rs778272177 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.938C>A (p.Pro313His) rs397518047 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile) rs397518050 0.00003
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338 0.00002
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891 0.00002
NM_000038.6(APC):c.1685C>T (p.Thr562Met) rs587783034 0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu) rs748745776 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala) rs755344973 0.00002
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.320A>G (p.Gln107Arg) rs727505060 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.354A>G (p.Thr118=) rs558590898 0.00002
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp) rs587781690 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.507G>A (p.Thr169=) rs375845797 0.00002
NM_000218.3(KCNQ1):c.948G>C (p.Gly316=) rs727505231 0.00002
NM_000219.6(KCNE1):c.174C>G (p.Thr58=) rs727503101 0.00002
NM_000219.6(KCNE1):c.220T>C (p.Ser74Pro) rs199473357 0.00002
NM_000238.4(KCNH2):c.3233A>G (p.Tyr1078Cys) rs199473029 0.00002
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu) rs730881769 0.00002
NM_000251.3(MSH2):c.304G>A (p.Val102Ile) rs193922373 0.00002
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met) rs727503208 0.00002
NM_000256.3(MYBPC3):c.1290C>T (p.Asp430=) rs200664621 0.00002
NM_000256.3(MYBPC3):c.1320C>T (p.Gly440=) rs368192024 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) rs727503199 0.00002
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 0.00002
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) rs397515939 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=) rs397515951 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2439G>C (p.Lys813Asn) rs727505264 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met) rs397515981 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181 0.00002
NM_000256.3(MYBPC3):c.296A>C (p.Lys99Thr) rs1555123639 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000256.3(MYBPC3):c.917G>A (p.Arg306Gln) rs373204728 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000256.3(MYBPC3):c.960C>T (p.Asp320=) rs369900803 0.00002
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe) rs397516105 0.00002
NM_000257.4(MYH7):c.1518C>T (p.Ile506=) rs397516108 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val) rs369935820 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.2976G>A (p.Leu992=) rs368728770 0.00002
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln) rs727504342 0.00002
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser) rs367546859 0.00002
NM_000257.4(MYH7):c.3462C>T (p.Gly1154=) rs397516185 0.00002
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000257.4(MYH7):c.354G>A (p.Ser118=) rs368925624 0.00002
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met) rs397516182 0.00002
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His) rs397516194 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile) rs373231077 0.00002
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met) rs397516235 0.00002
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln) rs146778113 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5286C>T (p.Ala1762=) rs771432461 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.5559+11C>T rs565014760 0.00002
NM_000257.4(MYH7):c.5559+9G>A rs727503241 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.5660A>G (p.Glu1887Gly) rs375404554 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) rs565312070 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732 0.00002
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met) rs781958107 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met) rs766245260 0.00002
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=) rs374492441 0.00002
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000260.4(MYO7A):c.4857C>T (p.Gly1619=) rs749483109 0.00002
NM_000260.4(MYO7A):c.5116G>A (p.Glu1706Lys) rs751860887 0.00002
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5857-3C>A rs727505114 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) rs375851346 0.00002
NM_000260.4(MYO7A):c.6264C>T (p.His2088=) rs188278264 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000260.4(MYO7A):c.72C>T (p.Ile24=) rs397516334 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000307.5(POU3F4):c.655C>T (p.Leu219=) rs781092151 0.00002
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His) rs199473142 0.00002
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile) rs199473159 0.00002
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val) rs202114798 0.00002
NM_000335.5(SCN5A):c.3408C>T (p.Ser1136=) rs553231555 0.00002
NM_000335.5(SCN5A):c.4209C>T (p.Asn1403=) rs397517954 0.00002
NM_000335.5(SCN5A):c.4695C>G (p.Leu1565=) rs727505094 0.00002
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His) rs199473621 0.00002
NM_000335.5(SCN5A):c.4857G>A (p.Thr1619=) rs753174463 0.00002
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=) rs145731678 0.00002
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) rs727504822 0.00002
NM_000363.5(TNNI3):c.151-6C>G rs377258542 0.00002
NM_000363.5(TNNI3):c.168T>G (p.Ile56Met) rs727503509 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000368.5(TSC1):c.1251A>G (p.Thr417=) rs147127442 0.00002
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile) rs747214551 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000414.4(HSD17B4):c.58+195C>T rs574416522 0.00002
NM_000414.4(HSD17B4):c.714+12T>G rs762828103 0.00002
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425 0.00002
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) rs201728041 0.00002
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.2007C>T (p.Asp669=) rs749013429 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000477.7(ALB):c.412C>T (p.Arg138Ter) rs77238412 0.00002
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter) rs746273959 0.00002
NM_000492.4(CFTR):c.964G>A (p.Val322Met) rs1800085 0.00002
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_000503.6(EYA1):c.966+8A>G rs190039495 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) rs754306821 0.00002
NM_000548.5(TSC2):c.1785G>A (p.Gln595=) rs150352976 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.5260-12C>T rs769264472 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_000601.6(HGF):c.1818T>C (p.Ile606=) rs762445545 0.00002
NM_000601.6(HGF):c.1942G>A (p.Gly648Arg) rs150109563 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu) rs866789949 0.00002
NM_001005242.3(PKP2):c.1674+15A>C rs749247141 0.00002
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961 0.00002
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met) rs146118033 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001005242.3(PKP2):c.558C>T (p.Ala186=) rs184522105 0.00002
NM_001005242.3(PKP2):c.978A>G (p.Ala326=) rs775137004 0.00002
NM_001010892.3(RSPH4A):c.1121G>A (p.Arg374His) rs141217974 0.00002
NM_001018005.2(TPM1):c.841A>G (p.Met281Val) rs397516394 0.00002
NM_001018116.2(CAVIN4):c.1005C>T (p.Pro335=) rs565406194 0.00002
NM_001031679.3(MSRB3):c.522C>T (p.Val174=) rs370488628 0.00002
NM_001032283.3(TMPO):c.70A>C (p.Asn24His) rs727505279 0.00002
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile) rs397516497 0.00002
NM_001035.3(RYR2):c.10557G>T (p.Leu3519Phe) rs558910032 0.00002
NM_001035.3(RYR2):c.1166G>A (p.Arg389His) rs200685968 0.00002
NM_001035.3(RYR2):c.12957C>T (p.Val4319=) rs727504438 0.00002
NM_001035.3(RYR2):c.186C>T (p.Leu62=) rs754375280 0.00002
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys) rs397516527 0.00002
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=) rs201469656 0.00002
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=) rs745839967 0.00002
NM_001035.3(RYR2):c.4329G>A (p.Val1443=) rs397516531 0.00002
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) rs727503400 0.00002
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys) rs397516546 0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met) rs876657994 0.00002
NM_001038603.3(MARVELD2):c.*1C>T rs570049997 0.00002
NM_001038603.3(MARVELD2):c.331G>A (p.Asp111Asn) rs397516553 0.00002
NM_001038603.3(MARVELD2):c.494A>G (p.His165Arg) rs727503157 0.00002
NM_001039141.3(TRIOBP):c.5544C>T (p.Tyr1848=) rs373713130 0.00002
NM_001039141.3(TRIOBP):c.5891G>A (p.Arg1964His) rs534138620 0.00002
NM_001039141.3(TRIOBP):c.5929C>T (p.Arg1977Trp) rs367584370 0.00002
NM_001039141.3(TRIOBP):c.6039C>G (p.Pro2013=) rs876657596 0.00002
NM_001039141.3(TRIOBP):c.6324+194A>G rs727503526 0.00002
NM_001039141.3(TRIOBP):c.64C>T (p.Arg22Cys) rs374228600 0.00002
NM_001039141.3(TRIOBP):c.6575+14G>A rs577534147 0.00002
NM_001039141.3(TRIOBP):c.96C>T (p.Ala32=) rs563986808 0.00002
NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala) rs755154488 0.00002
NM_001039213.4(CEACAM16):c.517G>A (p.Val173Ile) rs756280582 0.00002
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=) rs771897813 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=) rs1015435132 0.00002
NM_001042702.5(PJVK):c.762A>C (p.Glu254Asp) rs770054482 0.00002
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp) rs779997419 0.00002
NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg) rs749184815 0.00002
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs) rs1298330895 0.00002
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105 0.00002
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181 0.00002
NM_001103.4(ACTN2):c.1108-3C>T rs372488913 0.00002
NM_001103.4(ACTN2):c.1155C>T (p.Tyr385=) rs532155333 0.00002
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571 0.00002
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426 0.00002
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 0.00002
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=) rs727505177 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile) rs771260546 0.00002
NM_001103.4(ACTN2):c.762C>T (p.His254=) rs397516584 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 0.00002
NM_001105206.3(LAMA4):c.1988T>C (p.Ile663Thr) rs538726706 0.00002
NM_001105206.3(LAMA4):c.2225A>G (p.Asn742Ser) rs374279330 0.00002
NM_001105206.3(LAMA4):c.3357T>G (p.Pro1119=) rs782316528 0.00002
NM_001105206.3(LAMA4):c.3375G>A (p.Thr1125=) rs143728627 0.00002
NM_001105206.3(LAMA4):c.392C>T (p.Pro131Leu) rs374273620 0.00002
NM_001105206.3(LAMA4):c.465C>T (p.Cys155=) rs150354594 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001122659.3(EDNRB):c.-47T>C rs201336064 0.00002
NM_001122659.3(EDNRB):c.1278T>C (p.Asn426=) rs747813758 0.00002
NM_001122659.3(EDNRB):c.203C>T (p.Pro68Leu) rs201737510 0.00002
NM_001127453.2(GSDME):c.1197C>T (p.Ser399=) rs778523430 0.00002
NM_001127453.2(GSDME):c.405-12T>C rs202246404 0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_001128840.3(CACNA1D):c.2042C>T (p.Thr681Met) rs369605872 0.00002
NM_001128840.3(CACNA1D):c.2172A>G (p.Ser724=) rs767446461 0.00002
NM_001128840.3(CACNA1D):c.3198T>C (p.Asp1066=) rs1265964727 0.00002
NM_001128840.3(CACNA1D):c.3709A>G (p.Met1237Val) rs767083533 0.00002
NM_001128840.3(CACNA1D):c.4668G>A (p.Thr1556=) rs954096785 0.00002
NM_001128840.3(CACNA1D):c.5015G>A (p.Arg1672Gln) rs148898845 0.00002
NM_001128840.3(CACNA1D):c.6289G>A (p.Asp2097Asn) rs41276455 0.00002
NM_001134363.3(RBM20):c.1209C>T (p.His403=) rs397516592 0.00002
NM_001134363.3(RBM20):c.1329C>G (p.Phe443Leu) rs876657972 0.00002
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met) rs397516595 0.00002
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val) rs397516602 0.00002
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg) rs750988872 0.00002
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser) rs1479765434 0.00002
NM_001134363.3(RBM20):c.3603C>G (p.Gly1201=) rs397516617 0.00002
NM_001134363.3(RBM20):c.409C>T (p.Leu137=) rs876657570 0.00002
NM_001134363.3(RBM20):c.954A>G (p.Gln318=) rs766779254 0.00002
NM_001145809.2(MYH14):c.1251G>A (p.Thr417=) rs759132835 0.00002
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys) rs397516628 0.00002
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val) rs727503225 0.00002
NM_001145809.2(MYH14):c.4694G>A (p.Arg1565Gln) rs374911327 0.00002
NM_001145809.2(MYH14):c.5207G>A (p.Ser1736Asn) rs776401666 0.00002
NM_001145809.2(MYH14):c.5271G>A (p.Ser1757=) rs397516630 0.00002
NM_001145809.2(MYH14):c.5553G>A (p.Gln1851=) rs748686805 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu) rs572462059 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683 0.00002
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634 0.00002
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe) rs1249590916 0.00002
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=) rs778212970 0.00002
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=) rs767766165 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.836C>T (p.Thr279Met) rs779234824 0.00002
NM_001199799.2(ILDR1):c.1194G>A (p.Ser398=) rs139810461 0.00002
NM_001199799.2(ILDR1):c.483A>T (p.Val161=) rs369002219 0.00002
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) rs372283956 0.00002
NM_001256317.3(TMPRSS3):c.1120G>A (p.Val374Met) rs775508015 0.00002
NM_001256317.3(TMPRSS3):c.763G>T (p.Ala255Ser) rs778263709 0.00002
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=) rs727504698 0.00002
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679 0.00002
NM_001267550.2(TTN):c.101159A>G (p.Lys33720Arg) rs727503535 0.00002
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=) rs727504677 0.00002
NM_001267550.2(TTN):c.102711C>T (p.Cys34237=) rs568801205 0.00002
NM_001267550.2(TTN):c.103859G>A (p.Arg34620His) rs367927066 0.00002
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys) rs727504918 0.00002
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys) rs3813249 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln) rs56365812 0.00002
NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu) rs727504462 0.00002
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His) rs727504949 0.00002
NM_001267550.2(TTN):c.107552T>C (p.Met35851Thr) rs1310904463 0.00002
NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr) rs727505091 0.00002
NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys) rs528766978 0.00002
NM_001267550.2(TTN):c.13499A>G (p.Lys4500Arg) rs727503655 0.00002
NM_001267550.2(TTN):c.13782G>A (p.Gln4594=) rs188071134 0.00002
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr) rs375417155 0.00002
NM_001267550.2(TTN):c.18292A>G (p.Thr6098Ala) rs727505140 0.00002
NM_001267550.2(TTN):c.1851A>C (p.Thr617=) rs727504530 0.00002
NM_001267550.2(TTN):c.18609A>G (p.Arg6203=) rs777227340 0.00002
NM_001267550.2(TTN):c.19263C>T (p.Asp6421=) rs552531581 0.00002
NM_001267550.2(TTN):c.20468T>G (p.Val6823Gly) rs529417675 0.00002
NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys) rs747376234 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.21980C>T (p.Thr7327Met) rs727504975 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.24609C>T (p.Ser8203=) rs397517509 0.00002
NM_001267550.2(TTN):c.24928T>A (p.Tyr8310Asn) rs397517511 0.00002
NM_001267550.2(TTN):c.25041T>C (p.Ser8347=) rs397517512 0.00002
NM_001267550.2(TTN):c.25162C>T (p.Pro8388Ser) rs727503647 0.00002
NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu) rs761929830 0.00002
NM_001267550.2(TTN):c.25723G>A (p.Gly8575Arg) rs397517517 0.00002
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr) rs727503646 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln) rs397517520 0.00002
NM_001267550.2(TTN):c.28606C>A (p.Pro9536Thr) rs201121983 0.00002
NM_001267550.2(TTN):c.30588G>A (p.Val10196=) rs727504524 0.00002
NM_001267550.2(TTN):c.30707A>C (p.Asp10236Ala) rs539986891 0.00002
NM_001267550.2(TTN):c.31533A>G (p.Glu10511=) rs757499228 0.00002
NM_001267550.2(TTN):c.34058T>C (p.Phe11353Ser) rs752527275 0.00002
NM_001267550.2(TTN):c.3577G>A (p.Val1193Met) rs727503699 0.00002
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00002
NM_001267550.2(TTN):c.39457G>A (p.Val13153Met) rs377259883 0.00002
NM_001267550.2(TTN):c.39504G>T (p.Val13168=) rs397517558 0.00002
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=) rs398124450 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.40335C>T (p.Leu13445=) rs727504696 0.00002
NM_001267550.2(TTN):c.42304G>A (p.Ala14102Thr) rs72650080 0.00002
NM_001267550.2(TTN):c.43702G>A (p.Val14568Ile) rs372384272 0.00002
NM_001267550.2(TTN):c.44104G>C (p.Asp14702His) rs727503627 0.00002
NM_001267550.2(TTN):c.45143T>C (p.Ile15048Thr) rs727505261 0.00002
NM_001267550.2(TTN):c.46580T>A (p.Met15527Lys) rs77496539 0.00002
NM_001267550.2(TTN):c.46697-12C>T rs727504699 0.00002
NM_001267550.2(TTN):c.47887A>G (p.Met15963Val) rs397517590 0.00002
NM_001267550.2(TTN):c.48432T>C (p.Asp16144=) rs776643336 0.00002
NM_001267550.2(TTN):c.49701A>G (p.Ser16567=) rs369646977 0.00002
NM_001267550.2(TTN):c.51118A>G (p.Ile17040Val) rs727505039 0.00002
NM_001267550.2(TTN):c.52557C>T (p.Val17519=) rs397517610 0.00002
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys) rs369262757 0.00002
NM_001267550.2(TTN):c.53592A>G (p.Thr17864=) rs397517613 0.00002
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693 0.00002
NM_001267550.2(TTN):c.54201C>T (p.Ser18067=) rs397517618 0.00002
NM_001267550.2(TTN):c.54493C>T (p.Arg18165Cys) rs377575788 0.00002
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys) rs537070177 0.00002
NM_001267550.2(TTN):c.55278T>C (p.Val18426=) rs368013796 0.00002
NM_001267550.2(TTN):c.56557C>T (p.His18853Tyr) rs397517623 0.00002
NM_001267550.2(TTN):c.56900A>G (p.Asn18967Ser) rs727503594 0.00002
NM_001267550.2(TTN):c.57292G>A (p.Val19098Ile) rs727503592 0.00002
NM_001267550.2(TTN):c.57416T>C (p.Ile19139Thr) rs727503591 0.00002
NM_001267550.2(TTN):c.58150+10T>C rs397517635 0.00002
NM_001267550.2(TTN):c.58395A>G (p.Thr19465=) rs375134177 0.00002
NM_001267550.2(TTN):c.59092G>T (p.Asp19698Tyr) rs397517642 0.00002
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.60571A>C (p.Ile20191Leu) rs745806239 0.00002
NM_001267550.2(TTN):c.63187+8G>A rs727503584 0.00002
NM_001267550.2(TTN):c.63558G>A (p.Val21186=) rs200261892 0.00002
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=) rs397517657 0.00002
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555 0.00002
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala) rs397517693 0.00002
NM_001267550.2(TTN):c.6508+15T>C rs747722195 0.00002
NM_001267550.2(TTN):c.65158C>A (p.Pro21720Thr) rs776953525 0.00002
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869 0.00002
NM_001267550.2(TTN):c.66240A>C (p.Ala22080=) rs375181938 0.00002
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr) rs727505036 0.00002
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser) rs727503576 0.00002
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) rs563233842 0.00002
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg) rs397517669 0.00002
NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr) rs765930349 0.00002
NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys) rs750101152 0.00002
NM_001267550.2(TTN):c.70686C>T (p.Ser23562=) rs371481540 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.73146T>A (p.Thr24382=) rs372092427 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.73340G>A (p.Arg24447Lys) rs377190830 0.00002
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) rs565784637 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702 0.00002
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His) rs397517703 0.00002
NM_001267550.2(TTN):c.77799A>T (p.Thr25933=) rs727505210 0.00002
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519 0.00002
NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys) rs748215561 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=) rs374042845 0.00002
NM_001267550.2(TTN):c.81297T>C (p.Asp27099=) rs727505134 0.00002
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile) rs746222222 0.00002
NM_001267550.2(TTN):c.81858T>C (p.Val27286=) rs727503558 0.00002
NM_001267550.2(TTN):c.82551C>G (p.Thr27517=) rs373634657 0.00002
NM_001267550.2(TTN):c.87102T>A (p.Leu29034=) rs781200259 0.00002
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile) rs727503551 0.00002
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val) rs397517740 0.00002
NM_001267550.2(TTN):c.89368G>A (p.Val29790Ile) rs775906983 0.00002
NM_001267550.2(TTN):c.90405T>C (p.Asp30135=) rs371945826 0.00002
NM_001267550.2(TTN):c.91+14T>C rs397517777 0.00002
NM_001267550.2(TTN):c.91326A>G (p.Lys30442=) rs367777281 0.00002
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp) rs727505280 0.00002
NM_001267550.2(TTN):c.9306-4A>G rs757164431 0.00002
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr) rs141357723 0.00002
NM_001267550.2(TTN):c.95312G>A (p.Arg31771Lys) rs397517760 0.00002
NM_001267550.2(TTN):c.95409C>T (p.Asn31803=) rs727505040 0.00002
NM_001267550.2(TTN):c.95521A>G (p.Asn31841Asp) rs794729540 0.00002
NM_001267550.2(TTN):c.97672C>T (p.Arg32558Trp) rs727505090 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu) rs144900708 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) rs730881097 0.00002
NM_001276345.2(TNNT2):c.63T>G (p.Val21=) rs397516477 0.00002
NM_001276345.2(TNNT2):c.720-6G>A rs113471285 0.00002
NM_001283009.2(RTEL1):c.2142-7C>G rs879582201 0.00002
NM_001289808.2(CRYAB):c.325-2A>G rs202024436 0.00002
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys) rs186242388 0.00002
NM_001292063.2(OTOG):c.2782T>C (p.Cys928Arg) rs1011979116 0.00002
NM_001292063.2(OTOG):c.3438G>A (p.Met1146Ile) rs767774116 0.00002
NM_001292063.2(OTOG):c.3526-12G>C rs749205983 0.00002
NM_001318895.3(FHL2):c.275G>A (p.Cys92Tyr) rs765835400 0.00002
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp) rs746861398 0.00002
NM_001354604.2(MITF):c.217C>T (p.Arg73Cys) rs1478130504 0.00002
NM_001363118.2(SLC52A2):c.1152C>T (p.Gly384=) rs782168938 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile) rs749397968 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_001369268.1(ACAN):c.4341G>C (p.Glu1447Asp) rs201505307 0.00002
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys) rs386833403 0.00002
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter) rs767633598 0.00002
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr) rs727502945 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr) rs771266951 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=) rs776254949 0.00002
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=) rs747570402 0.00002
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=) rs574095166 0.00002
NM_001378609.3(OTOGL):c.2165C>A (p.Ala722Asp) rs769499824 0.00002
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly) rs12422945 0.00002
NM_001378609.3(OTOGL):c.4082-1G>C rs756233978 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.4601-2A>G rs368266167 0.00002
NM_001378609.3(OTOGL):c.518C>T (p.Ser173Leu) rs377611164 0.00002
NM_001379180.1(ESRRB):c.492C>T (p.Asn164=) rs370878277 0.00002
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.369A>G (p.Lys123=) rs1317246200 0.00002
NM_001384140.1(PCDH15):c.4672-1586T>C rs572152722 0.00002
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala) rs200975767 0.00002
NM_001384474.1(LOXHD1):c.1089C>T (p.Val363=) rs578169078 0.00002
NM_001384474.1(LOXHD1):c.1443G>A (p.Pro481=) rs184747932 0.00002
NM_001384474.1(LOXHD1):c.2316C>T (p.Ile772=) rs876657493 0.00002
NM_001384474.1(LOXHD1):c.2728C>G (p.Pro910Ala) rs1015707963 0.00002
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=) rs774278587 0.00002
NM_001384474.1(LOXHD1):c.3811A>G (p.Met1271Val) rs1377630828 0.00002
NM_001384474.1(LOXHD1):c.4680C>T (p.Cys1560=) rs397517863 0.00002
NM_001384474.1(LOXHD1):c.4886A>G (p.Tyr1629Cys) rs201536647 0.00002
NM_001384474.1(LOXHD1):c.5233G>A (p.Asp1745Asn) rs1020724757 0.00002
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys) rs774836161 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=) rs876657498 0.00002
NM_001384474.1(LOXHD1):c.6405C>T (p.Phe2135=) rs916139061 0.00002
NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala) rs776112233 0.00002
NM_001384474.1(LOXHD1):c.87G>A (p.Glu29=) rs1487954570 0.00002
NM_001384474.1(LOXHD1):c.91G>C (p.Asp31His) rs876657862 0.00002
NM_001393500.2(TOMT):c.259+4A>C rs545947177 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001614.5(ACTG1):c.*11C>T rs782341016 0.00002
NM_001614.5(ACTG1):c.1110C>A (p.Val370=) rs727502879 0.00002
NM_001614.5(ACTG1):c.51C>T (p.Cys17=) rs201570725 0.00002
NM_001614.5(ACTG1):c.945G>A (p.Lys315=) rs727502881 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00002
NM_001943.5(DSG2):c.2100C>T (p.Ser700=) rs397516704 0.00002
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr) rs397516705 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.351C>T (p.Ala117=) rs397517300 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002458.3(MUC5B):c.14484A>G (p.Thr4828=) rs199583764 0.00002
NM_002458.3(MUC5B):c.2925G>A (p.Ala975=) rs551502589 0.00002
NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr) rs397516756 0.00002
NM_002471.4(MYH6):c.2199T>C (p.Pro733=) rs727505290 0.00002
NM_002471.4(MYH6):c.4470C>T (p.Tyr1490=) rs727504964 0.00002
NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys) rs397516772 0.00002
NM_002471.4(MYH6):c.5136C>T (p.Ser1712=) rs397516774 0.00002
NM_002471.4(MYH6):c.5439G>A (p.Gln1813=) rs200854143 0.00002
NM_002473.6(MYH9):c.1380T>C (p.Asp460=) rs876657891 0.00002
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) rs373381680 0.00002
NM_002473.6(MYH9):c.2316G>A (p.Glu772=) rs727503290 0.00002
NM_002473.6(MYH9):c.3082A>G (p.Met1028Val) rs1205000981 0.00002
NM_002473.6(MYH9):c.3291C>A (p.Ala1097=) rs727503287 0.00002
NM_002473.6(MYH9):c.491-7G>A rs200059134 0.00002
NM_002473.6(MYH9):c.5853G>A (p.Ala1951=) rs746116612 0.00002
NM_002473.6(MYH9):c.705+9C>T rs397516781 0.00002
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) rs727504863 0.00002
NM_002474.3(MYH11):c.3480C>T (p.Asp1160=) rs771004572 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_002691.4(POLD1):c.1517G>A (p.Arg506His) rs140379348 0.00002
NM_002700.3(POU4F3):c.103T>C (p.Cys35Arg) rs147927112 0.00002
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1551G>A (p.Ala517=) rs727504377 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002880.3(RAF1):c.-361G>T rs727504376 0.00002
NM_002880.4(RAF1):c.313C>G (p.His105Asp) rs397516818 0.00002
NM_002880.4(RAF1):c.639T>C (p.Thr213=) rs397516823 0.00002
NM_002906.4(RDX):c.1548C>T (p.Thr516=) rs764664139 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_003019.5(SFTPD):c.883G>A (p.Ala295Thr) rs369866808 0.00002
NM_003280.3(TNNC1):c.203-10C>G rs727505237 0.00002
NM_003280.3(TNNC1):c.56-8G>A rs727503495 0.00002
NM_003476.5(CSRP3):c.252G>A (p.Thr84=) rs755614464 0.00002
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) rs377066670 0.00002
NM_003673.4(TCAP):c.16C>A (p.Leu6Met) rs201664428 0.00002
NM_003673.4(TCAP):c.301G>A (p.Ala101Thr) rs727503455 0.00002
NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr) rs755409090 0.00002
NM_003803.4(MYOM1):c.3308G>A (p.Arg1103Gln) rs186972208 0.00002
NM_003803.4(MYOM1):c.93G>A (p.Arg31=) rs876657536 0.00002
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004006.3(DMD):c.298G>A (p.Val100Ile) rs779099343 0.00002
NM_004085.4(TIMM8A):c.-8G>T rs782142925 0.00002
NM_004086.3(COCH):c.271C>T (p.Arg91Ter) rs540895576 0.00002
NM_004086.3(COCH):c.582G>T (p.Met194Ile) rs757768757 0.00002
NM_004100.5(EYA4):c.805-12T>C rs375862613 0.00002
NM_004130.4(GYG1):c.7+1G>A rs949456055 0.00002
NM_004230.4(S1PR2):c.781G>A (p.Val261Ile) rs199824841 0.00002
NM_004281.4(BAG3):c.386C>T (p.Ala129Val) rs876657747 0.00002
NM_004281.4(BAG3):c.705G>A (p.Ala235=) rs141328836 0.00002
NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly) rs141608069 0.00002
NM_004333.6(BRAF):c.*7T>C rs727502903 0.00002
NM_004415.4(DSP):c.2794-6G>A rs397516925 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr) rs763915365 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val) rs375919492 0.00002
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn) rs730880084 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.797T>C (p.Met266Thr) rs370890663 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004517.4(ILK):c.778C>T (p.Pro260Ser) rs750354350 0.00002
NM_004568.6(SERPINB6):c.147C>T (p.Thr49=) rs763576990 0.00002
NM_004568.6(SERPINB6):c.58G>C (p.Gly20Arg) rs775408746 0.00002
NM_004568.6(SERPINB6):c.845T>C (p.Met282Thr) rs374321672 0.00002
NM_004700.4(KCNQ4):c.832A>G (p.Thr278Ala) rs763326539 0.00002
NM_004985.5(KRAS):c.451-5604T>A rs397517476 0.00002
NM_004985.5(KRAS):c.491G>A (p.Arg164Gln) rs372793780 0.00002
NM_004999.4(MYO6):c.217C>G (p.Leu73Val) rs759372006 0.00002
NM_004999.4(MYO6):c.27G>A (p.Ala9=) rs767670766 0.00002
NM_004999.4(MYO6):c.2926G>T (p.Asp976Tyr) rs201168408 0.00002
NM_004999.4(MYO6):c.3505C>T (p.Arg1169Cys) rs144006872 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val) rs750951965 0.00002
NM_005159.5(ACTC1):c.294G>A (p.Val98=) rs397517058 0.00002
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995 0.00002
NM_005188.4(CBL):c.1927C>T (p.Leu643=) rs139939244 0.00002
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) rs751198294 0.00002
NM_005188.4(CBL):c.801C>G (p.Gly267=) rs727502913 0.00002
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) rs770304914 0.00002
NM_005219.5(DIAPH1):c.783G>A (p.Lys261=) rs727502962 0.00002
NM_005228.5(EGFR):c.2280C>T (p.Leu760=) rs397517103 0.00002
NM_005228.5(EGFR):c.2464G>A (p.Ala822Thr) rs397517125 0.00002
NM_005228.5(EGFR):c.2592G>A (p.Ala864=) rs397517131 0.00002
NM_005343.4(HRAS):c.358C>T (p.Leu120=) rs397517139 0.00002
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578 0.00002
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614 0.00002
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His) rs369452147 0.00002
NM_005379.4(MYO1A):c.2499G>T (p.Arg833=) rs727504563 0.00002
NM_005411.5(SFTPA1):c.649G>A (p.Ala217Thr) rs876658000 0.00002
NM_005422.4(TECTA):c.2322C>T (p.Ala774=) rs200749722 0.00002
NM_005422.4(TECTA):c.2726G>A (p.Arg909His) rs750620981 0.00002
NM_005422.4(TECTA):c.4471G>A (p.Gly1491Ser) rs727503463 0.00002
NM_005422.4(TECTA):c.487-7C>G rs368627411 0.00002
NM_005422.4(TECTA):c.585C>T (p.Gly195=) rs372185673 0.00002
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter) rs760574657 0.00002
NM_005422.4(TECTA):c.6089T>C (p.Ile2030Thr) rs876658017 0.00002
NM_005422.4(TECTA):c.907G>A (p.Glu303Lys) rs774583320 0.00002
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) rs200856070 0.00002
NM_005548.3(KARS1):c.1742A>C (p.Asn581Thr) rs117561624 0.00002
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 0.00002
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_005633.4(SOS1):c.87+12G>T rs368569135 0.00002
NM_005982.4(SIX1):c.114C>T (p.Pro38=) rs752537825 0.00002
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) rs752100338 0.00002
NM_006005.3(WFS1):c.1552A>G (p.Met518Val) rs747678800 0.00002
NM_006005.3(WFS1):c.1935G>T (p.Leu645=) rs727504912 0.00002
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) rs367547063 0.00002
NM_006012.4(CLPP):c.15A>G (p.Ile5Met) rs763687804 0.00002
NM_006012.4(CLPP):c.42A>C (p.Ser14=) rs935069392 0.00002
NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys) rs770024304 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.6493C>T (p.Arg2165Cys) rs369549727 0.00002
NM_006393.3(NEBL):c.*4T>A rs727504947 0.00002
NM_006393.3(NEBL):c.1963-13C>T rs727504904 0.00002
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) rs780384504 0.00002
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter) rs752922937 0.00002
NM_006393.3(NEBL):c.2485G>A (p.Val829Met) rs727504979 0.00002
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala) rs727503336 0.00002
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00002
NM_006941.4(SOX10):c.717C>G (p.Pro239=) rs766963456 0.00002
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) rs727504944 0.00002
NM_007078.3(LDB3):c.356C>T (p.Ala119Val) rs397517223 0.00002
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln) rs530979771 0.00002
NM_007078.3(LDB3):c.733G>A (p.Val245Ile) rs573061464 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007373.4(SHOC2):c.-125C>T rs188765124 0.00002
NM_013296.5(GPSM2):c.1440+15A>G rs199640162 0.00002
NM_013296.5(GPSM2):c.765T>G (p.Leu255=) rs778913696 0.00002
NM_014000.3(VCL):c.2746-14C>T rs367598954 0.00002
NM_014000.3(VCL):c.390+11T>G rs764668318 0.00002
NM_014000.3(VCL):c.808T>C (p.Leu270=) rs727505339 0.00002
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997 0.00002
NM_015340.4(LARS2):c.2278A>G (p.Ser760Gly) rs781382275 0.00002
NM_015340.4(LARS2):c.2404+4C>T rs199693918 0.00002
NM_015340.4(LARS2):c.2404+5G>A rs752860955 0.00002
NM_015404.4(WHRN):c.1291C>T (p.Arg431Trp) rs397517256 0.00002
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile) rs370178817 0.00002
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015404.4(WHRN):c.2293G>C (p.Gly765Arg) rs142685292 0.00002
NM_015404.4(WHRN):c.2645G>A (p.Arg882His) rs760928525 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_016203.4(PRKAG2):c.114G>A (p.Pro38=) rs397517261 0.00002
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln) rs142808871 0.00002
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) rs150140412 0.00002
NM_016239.4(MYO15A):c.10457C>T (p.Ala3486Val) rs876657525 0.00002
NM_016239.4(MYO15A):c.1414T>A (p.Ser472Thr) rs886042317 0.00002
NM_016239.4(MYO15A):c.2015C>G (p.Ser672Cys) rs876657897 0.00002
NM_016239.4(MYO15A):c.2311del (p.Ser771fs) rs754865266 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.3585C>T (p.Val1195=) rs1398856621 0.00002
NM_016239.4(MYO15A):c.4015C>T (p.Arg1339Trp) rs374336846 0.00002
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_016239.4(MYO15A):c.4354G>A (p.Ala1452Thr) rs752313077 0.00002
NM_016239.4(MYO15A):c.4483-6G>A rs771397877 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.4987G>A (p.Asp1663Asn) rs876657899 0.00002
NM_016239.4(MYO15A):c.5742T>C (p.Arg1914=) rs778007903 0.00002
NM_016239.4(MYO15A):c.5870C>A (p.Ser1957Tyr) rs876657901 0.00002
NM_016239.4(MYO15A):c.6657G>A (p.Lys2219=) rs727504708 0.00002
NM_016239.4(MYO15A):c.675G>C (p.Gly225=) rs763522649 0.00002
NM_016239.4(MYO15A):c.6957-13C>A rs773985638 0.00002
NM_016239.4(MYO15A):c.8341-2A>C rs778404517 0.00002
NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His) rs761861080 0.00002
NM_016239.4(MYO15A):c.931G>T (p.Asp311Tyr) rs876657906 0.00002
NM_016239.4(MYO15A):c.9593T>C (p.Ile3198Thr) rs369742063 0.00002
NM_016239.4(MYO15A):c.9812G>A (p.Arg3271His) rs373295633 0.00002
NM_016366.3(CABP2):c.659G>A (p.Arg220Gln) rs143180247 0.00002
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val) rs772659939 0.00002
NM_016599.5(MYOZ2):c.504T>C (p.Pro168=) rs769668877 0.00002
NM_016599.5(MYOZ2):c.689G>A (p.Arg230Gln) rs727503332 0.00002
NM_016616.5(NME8):c.401C>T (p.Pro134Leu) rs369201077 0.00002
NM_017433.5(MYO3A):c.168C>T (p.His56=) rs201668920 0.00002
NM_017433.5(MYO3A):c.2849G>A (p.Arg950His) rs143371522 0.00002
NM_017433.5(MYO3A):c.3747T>A (p.Asn1249Lys) rs201263014 0.00002
NM_017433.5(MYO3A):c.4438+4A>G rs756581092 0.00002
NM_017534.6(MYH2):c.1008+1G>A rs781504304 0.00002
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter) rs747020521 0.00002
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616 0.00002
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) rs201793562 0.00002
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076 0.00002
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_020297.4(ABCC9):c.4470A>G (p.Val1490=) rs727505001 0.00002
NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys) rs727504612 0.00002
NM_020297.4(ABCC9):c.918G>A (p.Leu306=) rs142115849 0.00002
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu) rs778410296 0.00002
NM_020458.4(TTC7A):c.1701C>T (p.His567=) rs375117959 0.00002
NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) rs374530179 0.00002
NM_022114.4(PRDM16):c.*14C>T rs747277382 0.00002
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=) rs757093442 0.00002
NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe) rs376537401 0.00002
NM_022124.6(CDH23):c.1080G>T (p.Leu360=) rs570997401 0.00002
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.2067G>A (p.Thr689=) rs876657437 0.00002
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663 0.00002
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His) rs768452198 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022124.6(CDH23):c.4953C>T (p.Asn1651=) rs397517332 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022124.6(CDH23):c.5168G>A (p.Arg1723His) rs189361642 0.00002
NM_022124.6(CDH23):c.5214C>T (p.Asn1738=) rs767794239 0.00002
NM_022124.6(CDH23):c.5632G>A (p.Ala1878Thr) rs757570269 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) rs763721044 0.00002
NM_022124.6(CDH23):c.8040C>T (p.Asp2680=) rs1379358750 0.00002
NM_022124.6(CDH23):c.9511-12C>T rs397517366 0.00002
NM_022124.6(CDH23):c.9858C>T (p.His3286=) rs761835004 0.00002
NM_024077.5(SECISBP2):c.182+1G>A rs1477854736 0.00002
NM_024334.3(TMEM43):c.1000+5G>T rs376589026 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 0.00002
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter) rs397517395 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro) rs397517409 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024915.4(GRHL2):c.685C>T (p.Arg229Trp) rs766515922 0.00002
NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu) rs544242665 0.00002
NM_030662.4(MAP2K2):c.450+13G>A rs572847821 0.00002
NM_030662.4(MAP2K2):c.450+14G>A rs397517414 0.00002
NM_030662.4(MAP2K2):c.474G>A (p.Val158=) rs370736371 0.00002
NM_030662.4(MAP2K2):c.985C>T (p.Pro329Ser) rs727504353 0.00002
NM_031475.3(ESPN):c.439G>A (p.Ala147Thr) rs727504727 0.00002
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_032119.4(ADGRV1):c.12869G>A (p.Arg4290His) rs762515714 0.00002
NM_032119.4(ADGRV1):c.13336G>A (p.Gly4446Arg) rs542716344 0.00002
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val) rs367826825 0.00002
NM_032119.4(ADGRV1):c.15667G>A (p.Gly5223Arg) rs727505301 0.00002
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile) rs768299251 0.00002
NM_032119.4(ADGRV1):c.16258C>A (p.Gln5420Lys) rs876657472 0.00002
NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His) rs779671690 0.00002
NM_032119.4(ADGRV1):c.21A>C (p.Pro7=) rs727504831 0.00002
NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala) rs374609813 0.00002
NM_032119.4(ADGRV1):c.3179C>T (p.Thr1060Met) rs768978840 0.00002
NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His) rs779520200 0.00002
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429 0.00002
NM_032119.4(ADGRV1):c.3816G>A (p.Leu1272=) rs202004141 0.00002
NM_032119.4(ADGRV1):c.4965T>C (p.Pro1655=) rs755711674 0.00002
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala) rs376559614 0.00002
NM_032119.4(ADGRV1):c.705A>G (p.Gln235=) rs372853480 0.00002
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met) rs727505056 0.00002
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg) rs727505041 0.00002
NM_032119.4(ADGRV1):c.9642C>T (p.Ile3214=) rs778864521 0.00002
NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr) rs757910491 0.00002
NM_032578.4(MYPN):c.3768G>A (p.Ser1256=) rs533708375 0.00002
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_033118.4(MYLK2):c.1284C>T (p.Gly428=) rs727503305 0.00002
NM_033118.4(MYLK2):c.1683G>A (p.Lys561=) rs756719732 0.00002
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687 0.00002
NM_080680.3(COL11A2):c.1968C>T (p.Thr656=) rs766534015 0.00002
NM_080680.3(COL11A2):c.338G>T (p.Gly113Val) rs199946338 0.00002
NM_080680.3(COL11A2):c.3529-3C>T rs753183777 0.00002
NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln) rs372143434 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429 0.00002
NM_133379.5(TTN):c.11757C>G (p.Phe3919Leu) rs369074426 0.00002
NM_133379.5(TTN):c.11821C>T (p.Arg3941Cys) rs397517804 0.00002
NM_133379.5(TTN):c.12409G>C (p.Asp4137His) rs727504522 0.00002
NM_133379.5(TTN):c.13374T>C (p.His4458=) rs397517809 0.00002
NM_133379.5(TTN):c.13444A>G (p.Ile4482Val) rs149169686 0.00002
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) rs397517834 0.00002
NM_138691.3(TMC1):c.1404+4A>G rs727503484 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_138691.3(TMC1):c.2178G>A (p.Ala726=) rs555517698 0.00002
NM_138691.3(TMC1):c.342G>A (p.Glu114=) rs370554600 0.00002
NM_138691.3(TMC1):c.674C>T (p.Pro225Leu) rs370088722 0.00002
NM_138691.3(TMC1):c.777T>C (p.Tyr259=) rs727503482 0.00002
NM_139319.3(SLC17A8):c.354+4G>C rs727504846 0.00002
NM_144573.4(NEXN):c.-10T>C rs727505219 0.00002
NM_144573.4(NEXN):c.1368A>C (p.Gly456=) rs397517845 0.00002
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu) rs377581131 0.00002
NM_144672.4(OTOA):c.1907C>G (p.Ala636Gly) rs780071647 0.00002
NM_144672.4(OTOA):c.775T>C (p.Trp259Arg) rs1476325639 0.00002
NM_144672.4(OTOA):c.987G>A (p.Gly329=) rs758229970 0.00002
NM_144991.3(TSPEAR):c.608G>A (p.Arg203Gln) rs781964053 0.00002
NM_144991.3(TSPEAR):c.942C>T (p.Tyr314=) rs146600721 0.00002
NM_147196.3(TMIE):c.211+5G>A rs375470385 0.00002
NM_147196.3(TMIE):c.218C>T (p.Thr73Met) rs770957465 0.00002
NM_147196.3(TMIE):c.361+11C>T rs368701214 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876 0.00002
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716 0.00002
NM_153676.4(USH1C):c.497-4G>A rs397517881 0.00002
NM_153676.4(USH1C):c.760-4C>T rs374167444 0.00002
NM_153700.2(STRC):c.2141T>C (p.Leu714Pro) rs776039868 0.00002
NM_153700.2(STRC):c.2481-3C>A rs1378890067 0.00002
NM_153700.2(STRC):c.3100-10C>T rs727503450 0.00002
NM_153700.2(STRC):c.3484del (p.Trp1162fs) rs727505074 0.00002
NM_153700.2(STRC):c.3661A>C (p.Thr1221Pro) rs780948412 0.00002
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_153700.2(STRC):c.678A>T (p.Thr226=) rs727503452 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_170682.4(P2RX2):c.906-13G>A rs757748091 0.00002
NM_170707.4(LMNA):c.1185G>A (p.Ser395=) rs397517890 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_173477.5(USH1G):c.-1C>T rs727504576 0.00002
NM_173477.5(USH1G):c.1152C>T (p.Asp384=) rs569032124 0.00002
NM_173477.5(USH1G):c.678C>A (p.Gly226=) rs201525855 0.00002
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His) rs370507566 0.00002
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser) rs149489325 0.00002
NM_178335.3(CCDC50):c.1003G>A (p.Ala335Thr) rs727502917 0.00002
NM_181458.4(PAX3):c.534G>A (p.Glu178=) rs569880951 0.00002
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr) rs199560470 0.00002
NM_181458.4(PAX3):c.958+6G>A rs558822810 0.00002
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys) rs766646613 0.00002
NM_194248.3(OTOF):c.1335C>T (p.Ile445=) rs749521853 0.00002
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln) rs111033444 0.00002
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934 0.00002
NM_194248.3(OTOF):c.2010C>T (p.Asn670=) rs374029967 0.00002
NM_194248.3(OTOF):c.2453G>A (p.Arg818Gln) rs748844952 0.00002
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His) rs150782952 0.00002
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189 0.00002
NM_194248.3(OTOF):c.3401G>A (p.Arg1134Gln) rs397517943 0.00002
NM_194248.3(OTOF):c.4342C>T (p.Arg1448Cys) rs727503355 0.00002
NM_194248.3(OTOF):c.4440G>T (p.Met1480Ile) rs727503354 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.5202G>A (p.Leu1734=) rs770579181 0.00002
NM_194248.3(OTOF):c.531C>T (p.Ser177=) rs765620419 0.00002
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_194248.3(OTOF):c.632G>A (p.Arg211Gln) rs111033535 0.00002
NM_198173.3(GRHL3):c.140T>C (p.Met47Thr) rs754006408 0.00002
NM_201384.3(PLEC):c.6790C>T (p.Arg2264Cys) rs371749261 0.00002
NM_203447.4(DOCK8):c.4109G>A (p.Arg1370His) rs753480025 0.00002
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) rs760725818 0.00002
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile) rs533179037 0.00002
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=) rs778162193 0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) rs727505165 0.00002
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr) rs759365458 0.00002
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116 0.00002
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982 0.00001
NM_000038.6(APC):c.1498T>C (p.Tyr500His) rs762019672 0.00001
NM_000038.6(APC):c.1743+6T>C rs766973462 0.00001
NM_000038.6(APC):c.1829A>G (p.Asp610Gly) rs756090401 0.00001
NM_000038.6(APC):c.3161A>C (p.His1054Pro) rs777538550 0.00001
NM_000038.6(APC):c.4100A>G (p.Gln1367Arg) rs1399790840 0.00001
NM_000038.6(APC):c.4101G>C (p.Gln1367His) rs761886683 0.00001
NM_000038.6(APC):c.5866A>G (p.Ile1956Val) rs749597014 0.00001
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp) rs374464049 0.00001
NM_000038.6(APC):c.7498C>G (p.Gln2500Glu) rs372535376 0.00001
NM_000038.6(APC):c.933+5C>A rs573528468 0.00001
NM_000059.4(BRCA2):c.2092del (p.Leu698fs) rs80359322 0.00001
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile) rs767567428 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616 0.00001
NM_000059.4(BRCA2):c.6998dup (p.Pro2334fs) rs754611265 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly) rs80359090 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000080.4(CHRNE):c.1033-2A>T rs786204773 0.00001
NM_000081.4(LYST):c.7761A>G (p.Gln2587=) rs139917441 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000104.4(CYP1B1):c.16A>G (p.Ser6Gly) rs369115487 0.00001
NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp) rs200724605 0.00001
NM_000116.5(TAFAZZIN):c.109+28C>T rs397515736 0.00001
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000117.3(EMD):c.494C>T (p.Thr165Met) rs397515751 0.00001
NM_000117.3(EMD):c.57C>T (p.Tyr19=) rs371661299 0.00001
NM_000117.3(EMD):c.711C>T (p.Ile237=) rs727503037 0.00001
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088 0.00001
NM_000138.5(FBN1):c.165-7G>A rs397515761 0.00001
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val) rs141551765 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn) rs199625633 0.00001
NM_000138.5(FBN1):c.3209-3C>A rs397515787 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.370A>G (p.Met124Val) rs764224168 0.00001
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser) rs370923981 0.00001
NM_000138.5(FBN1):c.4233C>T (p.Asn1411=) rs183198761 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.5509C>T (p.Pro1837Ser) rs755430984 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.5856G>A (p.Gly1952=) rs763490270 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=) rs397515843 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp) rs397515860 0.00001
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr) rs765839151 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala) rs746631156 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561 0.00001
NM_000179.3(MSH6):c.3649A>G (p.Arg1217Gly) rs587780677 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser) rs780187989 0.00001
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro) rs730881809 0.00001
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly) rs774162322 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys) rs727505003 0.00001
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094 0.00001
NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=) rs199630316 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1173C>T (p.Thr391=) rs770808054 0.00001
NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln) rs542628042 0.00001
NM_000218.3(KCNQ1):c.1295C>T (p.Thr432Ile) rs751644427 0.00001
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val) rs189794855 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.1795-5C>T rs727503104 0.00001
NM_000218.3(KCNQ1):c.192T>C (p.Pro64=) rs1360376744 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys) rs775059928 0.00001
NM_000218.3(KCNQ1):c.604+12C>T rs370821907 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446 0.00001
NM_000229.2(LCAT):c.605T>C (p.Ile202Thr) rs376973514 0.00001
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile) rs199472908 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000249.4(MLH1):c.2034A>G (p.Lys678=) rs894876691 0.00001
NM_000251.3(MSH2):c.2053A>G (p.Ile685Val) rs1060499876 0.00001
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849 0.00001
NM_000251.3(MSH2):c.645+3A>G rs587779168 0.00001
NM_000251.3(MSH2):c.764G>A (p.Ser255Asn) rs763184168 0.00001
NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile) rs397515882 0.00001
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) rs397515883 0.00001
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884 0.00001
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser) rs727505266 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His) rs374255707 0.00001
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) rs397515899 0.00001
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314 0.00001
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met) rs730880543 0.00001
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00001
NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val) rs727503200 0.00001
NM_000256.3(MYBPC3):c.1624+14G>C rs397515914 0.00001
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser) rs397515918 0.00001
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923 0.00001
NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe) rs397515924 0.00001
NM_000256.3(MYBPC3):c.1803G>A (p.Leu601=) rs397515927 0.00001
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=) rs727503193 0.00001
NM_000256.3(MYBPC3):c.1944C>T (p.His648=) rs750861887 0.00001
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr) rs397515941 0.00001
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) rs397515945 0.00001
NM_000256.3(MYBPC3):c.216C>A (p.Gly72=) rs760007714 0.00001
NM_000256.3(MYBPC3):c.2170C>T (p.Arg724Trp) rs200399246 0.00001
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met) rs369790992 0.00001
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000256.3(MYBPC3):c.2347G>T (p.Val783Leu) rs1060499878 0.00001
NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg) rs727504574 0.00001
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln) rs397515969 0.00001
NM_000256.3(MYBPC3):c.2544G>A (p.Ala848=) rs369904619 0.00001
NM_000256.3(MYBPC3):c.2557G>A (p.Gly853Ser) rs397515976 0.00001
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185 0.00001
NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile) rs727504360 0.00001
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) rs727504418 0.00001
NM_000256.3(MYBPC3):c.2714G>A (p.Ser905Asn) rs397515983 0.00001
NM_000256.3(MYBPC3):c.2723A>G (p.Tyr908Cys) rs397515984 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414 0.00001
NM_000256.3(MYBPC3):c.2833C>T (p.Arg945Trp) rs727503183 0.00001
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr) rs727504945 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.2906-7C>T rs876657512 0.00001
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) rs397515994 0.00001
NM_000256.3(MYBPC3):c.2993A>G (p.Gln998Arg) rs727503177 0.00001
NM_000256.3(MYBPC3):c.2995-5C>G rs376083315 0.00001
NM_000256.3(MYBPC3):c.3048C>T (p.Gly1016=) rs397515998 0.00001
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) rs397516003 0.00001
NM_000256.3(MYBPC3):c.3171G>A (p.Thr1057=) rs397516004 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010 0.00001
NM_000256.3(MYBPC3):c.326C>T (p.Ala109Val) rs397516011 0.00001
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) rs727503173 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383 0.00001
NM_000256.3(MYBPC3):c.3477T>C (p.Phe1159=) rs876657513 0.00001
NM_000256.3(MYBPC3):c.3490+6G>A rs397516021 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys) rs397516025 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3685A>G (p.Met1229Val) rs727503169 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3705G>A (p.Val1235=) rs397516036 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.3814+14G>A rs727504656 0.00001
NM_000256.3(MYBPC3):c.3815-10T>G rs397516043 0.00001
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) rs397516048 0.00001
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs) rs397516049 0.00001
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn) rs397516051 0.00001
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000256.3(MYBPC3):c.517A>G (p.Thr173Ala) rs727505168 0.00001
NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg) rs397516071 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000256.3(MYBPC3):c.852-6C>T rs397516078 0.00001
NM_000256.3(MYBPC3):c.926+1G>A rs767239679 0.00001
NM_000257.4(MYH7):c.1083C>T (p.Asn361=) rs145091844 0.00001
NM_000257.4(MYH7):c.1139-14C>T rs397516091 0.00001
NM_000257.4(MYH7):c.1315A>T (p.Met439Leu) rs370310929 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1684A>G (p.Asn562Asp) rs397516118 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.184G>A (p.Glu62Lys) rs727504416 0.00001
NM_000257.4(MYH7):c.1888+13T>G rs727504516 0.00001
NM_000257.4(MYH7):c.1888C>T (p.Pro630Ser) rs397516124 0.00001
NM_000257.4(MYH7):c.1892T>C (p.Ile631Thr) rs397516125 0.00001
NM_000257.4(MYH7):c.1926G>A (p.Ser642=) rs397516126 0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.208A>T (p.Thr70Ser) rs397516129 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2229G>A (p.Glu743=) rs397516139 0.00001
NM_000257.4(MYH7):c.2352C>T (p.Ile784=) rs397516143 0.00001
NM_000257.4(MYH7):c.2472C>T (p.Val824=) rs397516150 0.00001
NM_000257.4(MYH7):c.2499C>T (p.Tyr833=) rs397516151 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile) rs397516158 0.00001
NM_000257.4(MYH7):c.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) rs121913631 0.00001
NM_000257.4(MYH7):c.2846A>T (p.Glu949Val) rs397516175 0.00001
NM_000257.4(MYH7):c.2899G>A (p.Glu967Lys) rs727503250 0.00001
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn) rs727504388 0.00001
NM_000257.4(MYH7):c.2979C>T (p.Thr993=) rs397516176 0.00001
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile) rs201195256 0.00001
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val) rs727504358 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3245+3A>T rs727505355 0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183 0.00001
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val) rs397516184 0.00001
NM_000257.4(MYH7):c.3464G>A (p.Gly1155Glu) rs397516186 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg) rs397516188 0.00001
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln) rs397516192 0.00001
NM_000257.4(MYH7):c.37G>A (p.Ala13Thr) rs759231966 0.00001
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln) rs397516195 0.00001
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys) rs397516196 0.00001
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr) rs397516198 0.00001
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu) rs397516199 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=) rs148788346 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=) rs727503243 0.00001
NM_000257.4(MYH7):c.4388C>T (p.Ser1463Leu) rs890401818 0.00001
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu) rs727505329 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4644+3G>A rs397516226 0.00001
NM_000257.4(MYH7):c.4671G>A (p.Lys1557=) rs200601164 0.00001
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys) rs750987717 0.00001
NM_000257.4(MYH7):c.4725G>A (p.Lys1575=) rs45476496 0.00001
NM_000257.4(MYH7):c.4803G>A (p.Leu1601=) rs397516228 0.00001
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys) rs200530211 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) rs757090529 0.00001
NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe) rs397516231 0.00001
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=) rs151113658 0.00001
NM_000257.4(MYH7):c.4954-14C>G rs727505070 0.00001
NM_000257.4(MYH7):c.5019C>T (p.Ile1673=) rs139518691 0.00001
NM_000257.4(MYH7):c.50G>A (p.Arg17His) rs727503280 0.00001
NM_000257.4(MYH7):c.5191G>A (p.Asp1731Asn) rs876657885 0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_000257.4(MYH7):c.530C>T (p.Thr177Ile) rs752930302 0.00001
NM_000257.4(MYH7):c.531-5C>T rs397516243 0.00001
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys) rs397516245 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) rs45520836 0.00001
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys) rs121913652 0.00001
NM_000257.4(MYH7):c.5656-8T>G rs397516251 0.00001
NM_000257.4(MYH7):c.5703C>T (p.His1901=) rs45570635 0.00001
NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe) rs397516255 0.00001
NM_000257.4(MYH7):c.5762G>A (p.Arg1921Gln) rs397516256 0.00001
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=) rs397516257 0.00001
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) rs121913633 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000258.3(MYL3):c.517A>G (p.Met173Val) rs199474708 0.00001
NM_000258.3(MYL3):c.82G>A (p.Glu28Lys) rs754220375 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282 0.00001
NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys) rs876657913 0.00001
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile) rs1162724549 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.1455G>A (p.Leu485=) rs375528761 0.00001
NM_000260.4(MYO7A):c.1555-15C>T rs782573211 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met) rs782450807 0.00001
NM_000260.4(MYO7A):c.1797+8G>A rs781801358 0.00001
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859 0.00001
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314 0.00001
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437 0.00001
NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter) rs397516291 0.00001
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu) rs782485961 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2094+8G>A rs781886473 0.00001
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=) rs970183279 0.00001
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) rs995330889 0.00001
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys) rs781869469 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.285+14C>G rs876657532 0.00001
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.3375+3G>A rs397516299 0.00001
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517 0.00001
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667 0.00001
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211 0.00001
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981 0.00001
NM_000260.4(MYO7A):c.4065del (p.His1355fs) rs111033202 0.00001
NM_000260.4(MYO7A):c.4153-10C>G rs397516306 0.00001
NM_000260.4(MYO7A):c.4153-11C>T rs727503330 0.00001
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val) rs756854177 0.00001
NM_000260.4(MYO7A):c.4695G>A (p.Thr1565=) rs397516313 0.00001
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000260.4(MYO7A):c.4800G>T (p.Gly1600=) rs397516314 0.00001
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) rs771889662 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5243C>T (p.Thr1748Met) rs752373714 0.00001
NM_000260.4(MYO7A):c.5481-15C>T rs727504955 0.00001
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) rs397516319 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432 0.00001
NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met) rs958153438 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5945G>A (p.Gly1982Glu) rs111033250 0.00001
NM_000260.4(MYO7A):c.6029A>G (p.Asp2010Gly) rs111033175 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.6173A>G (p.Lys2058Arg) rs111033336 0.00001
NM_000260.4(MYO7A):c.6205A>T (p.Ile2069Phe) rs1046633522 0.00001
NM_000260.4(MYO7A):c.6339C>A (p.Ala2113=) rs764862807 0.00001
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met) rs769205075 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile) rs376900309 0.00001
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) rs747095250 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000307.5(POU3F4):c.285T>C (p.His95=) rs1163443982 0.00001
NM_000307.5(POU3F4):c.59C>A (p.Ala20Glu) rs755424605 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) rs727505131 0.00001
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His) rs397517951 0.00001
NM_000335.5(SCN5A):c.1659G>A (p.Glu553=) rs727503409 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.2313C>T (p.Leu771=) rs876657580 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2542A>T (p.Ile848Phe) rs199473166 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2977G>A (p.Ala993Thr) rs770088052 0.00001
NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser) rs794728871 0.00001
NM_000335.5(SCN5A):c.3247G>C (p.Gly1083Arg) rs199473190 0.00001
NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=) rs727504924 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407 0.00001
NM_000335.5(SCN5A):c.369G>A (p.Ala123=) rs727504886 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900 0.00001
NM_000335.5(SCN5A):c.5165C>A (p.Thr1722Asn) rs199473300 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His) rs369058100 0.00001
NM_000335.5(SCN5A):c.5606C>A (p.Ala1869Asp) rs727504759 0.00001
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=) rs397517957 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000335.5(SCN5A):c.72C>T (p.Ile24=) rs727503412 0.00001
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser) rs794728852 0.00001
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro) rs199473564 0.00001
NM_000337.6(SGCD):c.-41A>T rs369889635 0.00001
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.506C>T (p.Ala169Val) rs876658001 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000363.5(TNNI3):c.12-1G>T rs397516340 0.00001
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr) rs545441942 0.00001
NM_000363.5(TNNI3):c.233C>T (p.Thr78Ile) rs786205288 0.00001
NM_000363.5(TNNI3):c.258C>T (p.Ala86=) rs727503508 0.00001
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys) rs397516344 0.00001
NM_000363.5(TNNI3):c.336C>T (p.Tyr112=) rs559450042 0.00001
NM_000363.5(TNNI3):c.368C>T (p.Thr123Met) rs397516345 0.00001
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506 0.00001
NM_000363.5(TNNI3):c.384G>A (p.Leu128=) rs373130533 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu) rs730881084 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.337-13T>C rs762691667 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919 0.00001
NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) rs1553411468 0.00001
NM_000384.3(APOB):c.13154G>A (p.Arg4385His) rs533755016 0.00001
NM_000400.4(ERCC2):c.1238G>T (p.Gly413Val) rs1218421285 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=) rs745478996 0.00001
NM_000414.4(HSD17B4):c.56C>G (p.Ala19Gly) rs148363262 0.00001
NM_000414.4(HSD17B4):c.622+14C>T rs765736425 0.00001
NM_000416.3(IFNGR1):c.523del (p.Tyr175fs) rs749956849 0.00001
NM_000432.4(MYL2):c.101C>T (p.Thr34Ile) rs876657894 0.00001
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) rs199474809 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000432.4(MYL2):c.278C>A (p.Ala93Glu) rs774193307 0.00001
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg) rs397516402 0.00001
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) rs727504341 0.00001
NM_000432.4(MYL2):c.447C>T (p.Asn149=) rs397516405 0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1054G>A (p.Ala352Thr) rs397516412 0.00001
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731 0.00001
NM_000441.2(SLC26A4):c.1299C>T (p.Ile433=) rs397516415 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1342-10C>T rs727503426 0.00001
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213 0.00001
NM_000441.2(SLC26A4):c.1608C>T (p.Tyr536=) rs181882513 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1708-14A>G rs1453109539 0.00001
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro) rs397516422 0.00001
NM_000441.2(SLC26A4):c.1871T>C (p.Leu624Pro) rs1345776426 0.00001
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.2320-4A>C rs727503432 0.00001
NM_000441.2(SLC26A4):c.283G>A (p.Gly95Arg) rs111033398 0.00001
NM_000441.2(SLC26A4):c.297G>A (p.Thr99=) rs397516429 0.00001
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.948A>C (p.Gly316=) rs876657583 0.00001
NM_000492.4(CFTR):c.1680-981T>C rs727502937 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln) rs766126240 0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755 0.00001
NM_000501.4(ELN):c.1233C>T (p.Val411=) rs202052596 0.00001
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser) rs374253638 0.00001
NM_000503.6(EYA1):c.-24G>T rs759264949 0.00001
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000503.6(EYA1):c.1464C>T (p.Leu488=) rs770264648 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro) rs1007684729 0.00001
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys) rs374772533 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe) rs748698776 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu) rs777845808 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.6564C>G (p.Asn2188Lys) rs373570763 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000546.6(TP53):c.993+309C>T rs758194998 0.00001
NM_000601.6(HGF):c.1343A>G (p.His448Arg) rs1789738571 0.00001
NM_000601.6(HGF):c.146C>A (p.Thr49Asn) rs368094683 0.00001
NM_000601.6(HGF):c.1540A>G (p.Arg514Gly) rs876657831 0.00001
NM_000601.6(HGF):c.2011-3dup rs1363809103 0.00001
NM_000685.5(AGTR1):c.110dup (p.Ile38fs) rs387906577 0.00001
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000789.4(ACE):c.12_31del (p.Ser5fs) rs797045079 0.00001
NM_000899.5(KITLG):c.255G>C (p.Leu85=) rs767292529 0.00001
NM_000899.5(KITLG):c.708C>T (p.Tyr236=) rs200147285 0.00001
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr) rs397517011 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys) rs727503370 0.00001
NM_001005242.3(PKP2):c.222C>A (p.Asn74Lys) rs753180642 0.00001
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp) rs727504950 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949 0.00001
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg) rs397517026 0.00001
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027 0.00001
NM_001005242.3(PKP2):c.516C>A (p.Ser172Arg) rs397517028 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747 0.00001
NM_001010892.3(RSPH4A):c.*8A>G rs575857124 0.00001
NM_001010892.3(RSPH4A):c.65G>A (p.Arg22Gln) rs762438592 0.00001
NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter) rs745776920 0.00001
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.240+4518A>T rs876658033 0.00001
NM_001018005.2(TPM1):c.241-9T>C rs377417143 0.00001
NM_001018005.2(TPM1):c.252C>T (p.Asp84=) rs369617788 0.00001
NM_001018005.2(TPM1):c.444G>C (p.Leu148=) rs376518788 0.00001
NM_001018005.2(TPM1):c.493-6C>T rs397516374 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001018005.2(TPM1):c.684T>C (p.Leu228=) rs397516384 0.00001
NM_001018005.2(TPM1):c.768A>G (p.Leu256=) rs139650306 0.00001
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn) rs397516391 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001018005.2(TPM1):c.837C>T (p.Asn279=) rs397516393 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001018005.2(TPM1):c.91G>A (p.Ala31Thr) rs397516396 0.00001
NM_001018116.2(CAVIN4):c.632G>A (p.Arg211Gln) rs200590850 0.00001
NM_001032283.3(TMPO):c.565+1137G>A rs375903462 0.00001
NM_001032283.3(TMPO):c.565+1606C>T rs727505047 0.00001
NM_001032283.3(TMPO):c.565+1907A>G rs372248802 0.00001
NM_001035.3(RYR2):c.10047G>A (p.Ser3349=) rs144428932 0.00001
NM_001035.3(RYR2):c.10142+4T>C rs397516496 0.00001
NM_001035.3(RYR2):c.1077A>G (p.Ser359=) rs727505317 0.00001
NM_001035.3(RYR2):c.11039+13G>T rs727504882 0.00001
NM_001035.3(RYR2):c.11040-3C>T rs876657984 0.00001
NM_001035.3(RYR2):c.11174T>C (p.Leu3725Pro) rs727505346 0.00001
NM_001035.3(RYR2):c.11326-4A>G rs727504876 0.00001
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg) rs397516506 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152 0.00001
NM_001035.3(RYR2):c.13328+3A>G rs776115513 0.00001
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325 0.00001
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu) rs876657985 0.00001
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=) rs397516515 0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868 0.00001
NM_001035.3(RYR2):c.2562A>G (p.Thr854=) rs727503398 0.00001
NM_001035.3(RYR2):c.2719-4T>A rs397516523 0.00001
NM_001035.3(RYR2):c.2786G>A (p.Arg929His) rs876657988 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser) rs727504969 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=) rs190884873 0.00001
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=) rs727505126 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met) rs761181641 0.00001
NM_001035.3(RYR2):c.463+6C>T rs397516533 0.00001
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr) rs397516535 0.00001
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=) rs397516540 0.00001
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr) rs397516542 0.00001
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr) rs767728159 0.00001
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp) rs771469528 0.00001
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr) rs397516548 0.00001
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=) rs779456443 0.00001
NM_001035.3(RYR2):c.848+1G>A rs772984053 0.00001
NM_001035.3(RYR2):c.8714+13A>G rs876657579 0.00001
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873 0.00001
NM_001035.3(RYR2):c.994C>T (p.Arg332Trp) rs876657995 0.00001
NM_001035.3(RYR2):c.9962C>T (p.Pro3321Leu) rs747933306 0.00001
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met) rs727503158 0.00001
NM_001038603.3(MARVELD2):c.1095A>G (p.Leu365=) rs727503159 0.00001
NM_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001038603.3(MARVELD2):c.1204G>A (p.Asp402Asn) rs727503160 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001038603.3(MARVELD2):c.1479G>A (p.Leu493=) rs752765358 0.00001
NM_001038603.3(MARVELD2):c.771C>T (p.Leu257=) rs571015098 0.00001
NM_001039141.3(TRIOBP):c.-3A>G rs779160270 0.00001
NM_001039141.3(TRIOBP):c.115-12A>T rs781452420 0.00001
NM_001039141.3(TRIOBP):c.273A>G (p.Ala91=) rs876657592 0.00001
NM_001039141.3(TRIOBP):c.4009C>G (p.Gln1337Glu) rs372970338 0.00001
NM_001039141.3(TRIOBP):c.4062+5G>A rs876658037 0.00001
NM_001039141.3(TRIOBP):c.4135C>T (p.Pro1379Ser) rs727505118 0.00001
NM_001039141.3(TRIOBP):c.4429T>C (p.Trp1477Arg) rs756650521 0.00001
NM_001039141.3(TRIOBP):c.4548T>C (p.Pro1516=) rs770934306 0.00001
NM_001039141.3(TRIOBP):c.4773C>T (p.Ala1591=) rs876657594 0.00001
NM_001039141.3(TRIOBP):c.5185-12C>G rs774556951 0.00001
NM_001039141.3(TRIOBP):c.5247A>G (p.Ser1749=) rs1172498750 0.00001
NM_001039141.3(TRIOBP):c.5349A>T (p.Gly1783=) rs201691906 0.00001
NM_001039141.3(TRIOBP):c.5393C>T (p.Ser1798Leu) rs876657595 0.00001
NM_001039141.3(TRIOBP):c.5488-14C>T rs748722151 0.00001
NM_001039141.3(TRIOBP):c.5528C>T (p.Thr1843Met) rs528806680 0.00001
NM_001039141.3(TRIOBP):c.5575C>G (p.His1859Asp) rs780379130 0.00001
NM_001039141.3(TRIOBP):c.5693C>T (p.Ser1898Leu) rs727503523 0.00001
NM_001039141.3(TRIOBP):c.5869C>T (p.Gln1957Ter) rs1277466514 0.00001
NM_001039141.3(TRIOBP):c.6184A>G (p.Ser2062Gly) rs727503525 0.00001
NM_001039141.3(TRIOBP):c.6324+233C>G rs757097829 0.00001
NM_001039141.3(TRIOBP):c.6324+240G>A rs876658038 0.00001
NM_001039141.3(TRIOBP):c.6986G>A (p.Ser2329Asn) rs876657597 0.00001
NM_001039213.4(CEACAM16):c.1054C>T (p.Arg352Cys) rs747961516 0.00001
NM_001039213.4(CEACAM16):c.359G>C (p.Gly120Ala) rs979461820 0.00001
NM_001039876.3(SYNE4):c.972+5G>A rs369269989 0.00001
NM_001042492.3(NF1):c.2061A>G (p.Leu687=) rs143671377 0.00001
NM_001042492.3(NF1):c.2619T>C (p.Arg873=) rs766212733 0.00001
NM_001042492.3(NF1):c.3732T>A (p.Val1244=) rs756653022 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4835+3A>G rs1417732851 0.00001
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=) rs759291615 0.00001
NM_001042492.3(NF1):c.5229T>C (p.Ala1743=) rs876657546 0.00001
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn) rs771597781 0.00001
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr) rs749672954 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met) rs755670651 0.00001
NM_001042545.2(LTBP4):c.2989G>A (p.Val997Met) rs748078658 0.00001
NM_001042545.2(LTBP4):c.3258C>T (p.Pro1086=) rs727503155 0.00001
NM_001042545.2(LTBP4):c.3485C>T (p.Ala1162Val) rs1555741927 0.00001
NM_001042545.2(LTBP4):c.4348G>C (p.Glu1450Gln) rs187448224 0.00001
NM_001042702.5(PJVK):c.102A>T (p.Leu34=) rs1376281701 0.00001
NM_001042702.5(PJVK):c.407+15C>G rs727502959 0.00001
NM_001042702.5(PJVK):c.53G>T (p.Arg18Ile) rs397516555 0.00001
NM_001042702.5(PJVK):c.548G>A (p.Arg183Gln) rs760036509 0.00001
NM_001042702.5(PJVK):c.669C>T (p.Asp223=) rs774085388 0.00001
NM_001042702.5(PJVK):c.766A>C (p.Asn256His) rs727502958 0.00001
NM_001042702.5(PJVK):c.841C>T (p.Pro281Ser) rs377275979 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) rs755653922 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter) rs745509085 0.00001
NM_001079668.3(NKX2-1):c.201G>C (p.Pro67=) rs747491554 0.00001
NM_001079866.2(BCS1L):c.810G>A (p.Leu270=) rs371242452 0.00001
NM_001080476.3(GRXCR1):c.152G>A (p.Gly51Glu) rs727505186 0.00001
NM_001080476.3(GRXCR1):c.296T>C (p.Ile99Thr) rs727503088 0.00001
NM_001080476.3(GRXCR1):c.358T>C (p.Phe120Leu) rs529420082 0.00001
NM_001080476.3(GRXCR1):c.75T>C (p.Ser25=) rs876657475 0.00001
NM_001080476.3(GRXCR1):c.784C>T (p.Arg262Ter) rs761349153 0.00001
NM_001080476.3(GRXCR1):c.813C>A (p.Ala271=) rs727503090 0.00001
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=) rs397516562 0.00001
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=) rs12043223 0.00001
NM_001103.4(ACTN2):c.1338G>A (p.Ala446=) rs397516566 0.00001
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser) rs376923220 0.00001
NM_001103.4(ACTN2):c.1422C>T (p.His474=) rs1282303942 0.00001
NM_001103.4(ACTN2):c.2302-3C>A rs727505174 0.00001
NM_001103.4(ACTN2):c.2306A>C (p.Lys769Thr) rs397516573 0.00001
NM_001103.4(ACTN2):c.2484C>T (p.Ala828=) rs397516576 0.00001
NM_001103.4(ACTN2):c.706A>G (p.Asn236Asp) rs1193355360 0.00001
NM_001103.4(ACTN2):c.753C>T (p.Cys251=) rs397516583 0.00001
NM_001105206.3(LAMA4):c.1078-14C>T rs397516714 0.00001
NM_001105206.3(LAMA4):c.1209C>T (p.Leu403=) rs397516715 0.00001
NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr) rs782574915 0.00001
NM_001105206.3(LAMA4):c.2026G>A (p.Ala676Thr) rs397516721 0.00001
NM_001105206.3(LAMA4):c.2215G>A (p.Glu739Lys) rs727504935 0.00001
NM_001105206.3(LAMA4):c.2577G>A (p.Thr859=) rs397516724 0.00001
NM_001105206.3(LAMA4):c.267C>T (p.Asn89=) rs727503114 0.00001
NM_001105206.3(LAMA4):c.2782C>A (p.Pro928Thr) rs727505130 0.00001
NM_001105206.3(LAMA4):c.3003C>T (p.Gly1001=) rs397516728 0.00001
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn) rs781919095 0.00001
NM_001105206.3(LAMA4):c.398C>G (p.Pro133Arg) rs876657842 0.00001
NM_001105206.3(LAMA4):c.4052A>G (p.Lys1351Arg) rs876657843 0.00001
NM_001105206.3(LAMA4):c.4476-3C>A rs397516731 0.00001
NM_001105206.3(LAMA4):c.4476-4C>A rs727505042 0.00001
NM_001105206.3(LAMA4):c.486T>C (p.Ala162=) rs397516734 0.00001
NM_001105206.3(LAMA4):c.4982-3del rs727505356 0.00001
NM_001105206.3(LAMA4):c.5241G>A (p.Val1747=) rs375447272 0.00001
NM_001105206.3(LAMA4):c.90C>T (p.Asn30=) rs542554847 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001122659.3(EDNRB):c.*1632C>A rs876657804 0.00001
NM_001122659.3(EDNRB):c.1194+15C>T rs886050325 0.00001
NM_001122659.3(EDNRB):c.186G>A (p.Leu62=) rs62637639 0.00001
NM_001122659.3(EDNRB):c.532C>A (p.Pro178Thr) rs201311945 0.00001
NM_001122659.3(EDNRB):c.748A>G (p.Ser250Gly) rs199521140 0.00001
NM_001127453.2(GSDME):c.1218T>C (p.Thr406=) rs727505338 0.00001
NM_001127453.2(GSDME):c.1331G>T (p.Arg444Met) rs780683974 0.00001
NM_001127453.2(GSDME):c.826T>C (p.Ser276Pro) rs727502954 0.00001
NM_001127453.2(GSDME):c.969A>G (p.Leu323=) rs397516911 0.00001
NM_001128159.3(VPS53):c.1750C>T (p.Arg584Ter) rs781484164 0.00001
NM_001128228.3(TPRN):c.1742A>G (p.Asn581Ser) rs773521640 0.00001
NM_001128228.3(TPRN):c.1944T>G (p.Ser648=) rs757430065 0.00001
NM_001128228.3(TPRN):c.1996G>A (p.Val666Met) rs876657591 0.00001
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) rs727503520 0.00001
NM_001128840.3(CACNA1D):c.1555G>A (p.Ala519Thr) rs138150805 0.00001
NM_001128840.3(CACNA1D):c.2261A>G (p.Asn754Ser) rs1316050748 0.00001
NM_001128840.3(CACNA1D):c.2661C>T (p.Ile887=) rs1457329674 0.00001
NM_001128840.3(CACNA1D):c.3748G>A (p.Val1250Ile) rs748437057 0.00001
NM_001128840.3(CACNA1D):c.3862G>A (p.Glu1288Lys) rs781171340 0.00001
NM_001128840.3(CACNA1D):c.5255C>T (p.Thr1752Ile) rs201147414 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001128840.3(CACNA1D):c.6193-11T>C rs369194462 0.00001
NM_001128840.3(CACNA1D):c.6193-4A>G rs756630418 0.00001
NM_001128840.3(CACNA1D):c.6204C>T (p.Ser2068=) rs777264885 0.00001
NM_001128840.3(CACNA1D):c.6373C>T (p.Arg2125Trp) rs373663753 0.00001
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) rs200001131 0.00001
NM_001128840.3(CACNA1D):c.6414C>T (p.Ser2138=) rs748761511 0.00001
NM_001128840.3(CACNA1D):c.649T>C (p.Leu217=) rs1263485007 0.00001
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) rs1294912316 0.00001
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001134363.3(RBM20):c.1080A>T (p.Thr360=) rs397516591 0.00001
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg) rs727505308 0.00001
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg) rs774916799 0.00001
NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln) rs876657974 0.00001
NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu) rs993569055 0.00001
NM_001134363.3(RBM20):c.1761C>T (p.Leu587=) rs727504820 0.00001
NM_001134363.3(RBM20):c.1812G>A (p.Lys604=) rs751318089 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys) rs397516598 0.00001
NM_001134363.3(RBM20):c.2070G>A (p.Pro690=) rs890520365 0.00001
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys) rs397516600 0.00001
NM_001134363.3(RBM20):c.3022C>T (p.Arg1008Trp) rs397516610 0.00001
NM_001134363.3(RBM20):c.313C>T (p.Leu105=) rs397516611 0.00001
NM_001134363.3(RBM20):c.3183A>G (p.Pro1061=) rs397516612 0.00001
NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=) rs397516613 0.00001
NM_001134363.3(RBM20):c.3372T>C (p.Thr1124=) rs397516614 0.00001
NM_001134363.3(RBM20):c.3500G>T (p.Gly1167Val) rs371754487 0.00001
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618 0.00001
NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp) rs727504943 0.00001
NM_001134363.3(RBM20):c.600T>G (p.Thr200=) rs876657571 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001145308.5(LRTOMT):c.53A>C (p.Asp18Ala) rs876657865 0.00001
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser) rs537153044 0.00001
NM_001145809.2(MYH14):c.1995G>A (p.Ser665=) rs876657514 0.00001
NM_001145809.2(MYH14):c.2145C>T (p.Tyr715=) rs774452001 0.00001
NM_001145809.2(MYH14):c.2701C>A (p.Pro901Thr) rs1324093100 0.00001
NM_001145809.2(MYH14):c.2733G>A (p.Val911=) rs1330663203 0.00001
NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys) rs757658628 0.00001
NM_001145809.2(MYH14):c.3322C>T (p.Arg1108Cys) rs769702697 0.00001
NM_001145809.2(MYH14):c.3914G>A (p.Arg1305His) rs876657873 0.00001
NM_001145809.2(MYH14):c.4138-4A>G rs373533012 0.00001
NM_001145809.2(MYH14):c.4264C>T (p.Arg1422Cys) rs727503226 0.00001
NM_001145809.2(MYH14):c.4486C>G (p.Gln1496Glu) rs141995460 0.00001
NM_001145809.2(MYH14):c.4885G>T (p.Ala1629Ser) rs754931173 0.00001
NM_001145809.2(MYH14):c.5345+6T>C rs876657874 0.00001
NM_001145809.2(MYH14):c.534C>T (p.Thr178=) rs727503221 0.00001
NM_001145809.2(MYH14):c.5369G>A (p.Arg1790His) rs747480201 0.00001
NM_001145809.2(MYH14):c.5548C>T (p.Arg1850Trp) rs201474958 0.00001
NM_001145809.2(MYH14):c.5644G>A (p.Ala1882Thr) rs200566974 0.00001
NM_001145809.2(MYH14):c.6058G>A (p.Gly2020Arg) rs1006372999 0.00001
NM_001145809.2(MYH14):c.6088T>A (p.Ser2030Thr) rs727503231 0.00001
NM_001146079.2(CLDN14):c.495C>T (p.Tyr165=) rs373672296 0.00001
NM_001164465.3(GOLGA6L10):c.1081G>A (p.Glu361Lys) rs200685620 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
NM_001195248.2(APTX):c.46C>T (p.Arg16Ter) rs1015321377 0.00001
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) rs565952913 0.00001
NM_001195263.2(PDZD7):c.685G>A (p.Gly229Ser) rs765376342 0.00001
NM_001199107.2(TBC1D24):c.*2G>A rs780054979 0.00001
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) rs796053405 0.00001
NM_001199107.2(TBC1D24):c.1545G>A (p.Ala515=) rs747350771 0.00001
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) rs759193465 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys) rs376510686 0.00001
NM_001199799.2(ILDR1):c.1388G>A (p.Arg463His) rs199571441 0.00001
NM_001199799.2(ILDR1):c.1433C>T (p.Ser478Phe) rs727503096 0.00001
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=) rs369318229 0.00001
NM_001199799.2(ILDR1):c.1600-13T>C rs567262350 0.00001
NM_001199799.2(ILDR1):c.25C>T (p.Pro9Ser) rs1217446345 0.00001
NM_001199799.2(ILDR1):c.73C>G (p.Leu25Val) rs727505226 0.00001
NM_001232.4(CASQ2):c.1026C>T (p.Val342=) rs774882087 0.00001
NM_001232.4(CASQ2):c.311A>C (p.Lys104Thr) rs781062859 0.00001
NM_001232.4(CASQ2):c.333A>G (p.Glu111=) rs727502910 0.00001
NM_001232.4(CASQ2):c.738-3C>A rs876657750 0.00001
NM_001243133.2(NLRP3):c.2089C>T (p.Arg697Ter) rs1191108022 0.00001
NM_001243133.2(NLRP3):c.2811C>T (p.Pro937=) rs545121784 0.00001
NM_001256317.3(TMPRSS3):c.1000G>A (p.Asp334Asn) rs776873836 0.00001
NM_001256317.3(TMPRSS3):c.1025G>A (p.Gly342Glu) rs397517368 0.00001
NM_001256317.3(TMPRSS3):c.1054G>A (p.Ala352Thr) rs188750127 0.00001
NM_001256317.3(TMPRSS3):c.1197C>G (p.Asp399Glu) rs397517371 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256317.3(TMPRSS3):c.1344+3G>A rs751001285 0.00001
NM_001256317.3(TMPRSS3):c.298G>C (p.Asp100His) rs397517374 0.00001
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) rs373058706 0.00001
NM_001256317.3(TMPRSS3):c.446+4A>T rs376253981 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000 0.00001
NM_001256317.3(TMPRSS3):c.677C>T (p.Ser226Leu) rs763150678 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001256317.3(TMPRSS3):c.731G>T (p.Gly244Val) rs397517377 0.00001
NM_001256317.3(TMPRSS3):c.783-13C>A rs140443203 0.00001
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs) rs397517626 0.00001
NM_001267550.2(TTN):c.100562G>A (p.Gly33521Asp) rs370516977 0.00001
NM_001267550.2(TTN):c.100653C>A (p.Gly33551=) rs727505326 0.00001
NM_001267550.2(TTN):c.101557A>G (p.Lys33853Glu) rs727505163 0.00001
NM_001267550.2(TTN):c.101908G>A (p.Asp33970Asn) rs749832500 0.00001
NM_001267550.2(TTN):c.102011T>A (p.Leu34004Gln) rs727504897 0.00001
NM_001267550.2(TTN):c.102394T>C (p.Ser34132Pro) rs876658098 0.00001
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser) rs375332499 0.00001
NM_001267550.2(TTN):c.103632G>A (p.Glu34544=) rs1285886003 0.00001
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg) rs727505009 0.00001
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His) rs574420969 0.00001
NM_001267550.2(TTN):c.104192A>G (p.Tyr34731Cys) rs397517789 0.00001
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter) rs991187915 0.00001
NM_001267550.2(TTN):c.105064G>A (p.Glu35022Lys) rs727504977 0.00001
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val) rs779464128 0.00001
NM_001267550.2(TTN):c.105531G>A (p.Val35177=) rs727505323 0.00001
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met) rs397517797 0.00001
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp) rs752729073 0.00001
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg) rs727504465 0.00001
NM_001267550.2(TTN):c.107897G>A (p.Gly35966Asp) rs727505008 0.00001
NM_001267550.2(TTN):c.11502G>A (p.Gly3834=) rs777420658 0.00001
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825 0.00001
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=) rs565546452 0.00001
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys) rs377114166 0.00001
NM_001267550.2(TTN):c.12361G>C (p.Asp4121His) rs370209978 0.00001
NM_001267550.2(TTN):c.1429A>T (p.Thr477Ser) rs727503705 0.00001
NM_001267550.2(TTN):c.15063A>C (p.Glu5021Asp) rs727503651 0.00001
NM_001267550.2(TTN):c.16574G>C (p.Ser5525Thr) rs727503649 0.00001
NM_001267550.2(TTN):c.16577A>G (p.Asn5526Ser) rs767376352 0.00001
NM_001267550.2(TTN):c.16839A>C (p.Glu5613Asp) rs397517483 0.00001
NM_001267550.2(TTN):c.16895T>C (p.Ile5632Thr) rs727504971 0.00001
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile) rs727505221 0.00001
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr) rs775293848 0.00001
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067 0.00001
NM_001267550.2(TTN):c.17C>T (p.Pro6Leu) rs201490999 0.00001
NM_001267550.2(TTN):c.18456T>C (p.His6152=) rs756540833 0.00001
NM_001267550.2(TTN):c.18832G>A (p.Gly6278Ser) rs397517488 0.00001
NM_001267550.2(TTN):c.19315G>A (p.Val6439Met) rs727505289 0.00001
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=) rs727504776 0.00001
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser) rs876658046 0.00001
NM_001267550.2(TTN):c.20742T>A (p.Phe6914Leu) rs397517495 0.00001
NM_001267550.2(TTN):c.2082C>T (p.Asp694=) rs534874686 0.00001
NM_001267550.2(TTN):c.20892G>A (p.Thr6964=) rs727504623 0.00001
NM_001267550.2(TTN):c.21157A>C (p.Thr7053Pro) rs727504741 0.00001
NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val) rs374625641 0.00001
NM_001267550.2(TTN):c.21279A>G (p.Thr7093=) rs727504765 0.00001
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) rs876658043 0.00001
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg) rs876658047 0.00001
NM_001267550.2(TTN):c.22241-14A>G rs371352901 0.00001
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359 0.00001
NM_001267550.2(TTN):c.22569T>C (p.Ser7523=) rs761651834 0.00001
NM_001267550.2(TTN):c.22798G>T (p.Ala7600Ser) rs757523256 0.00001
NM_001267550.2(TTN):c.22817-15T>G rs727504821 0.00001
NM_001267550.2(TTN):c.22842A>G (p.Leu7614=) rs727504963 0.00001
NM_001267550.2(TTN):c.230G>A (p.Arg77Gln) rs727503709 0.00001
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=) rs753546095 0.00001
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met) rs144032104 0.00001
NM_001267550.2(TTN):c.23939-13C>A rs876658045 0.00001
NM_001267550.2(TTN):c.24520G>A (p.Val8174Met) rs727504961 0.00001
NM_001267550.2(TTN):c.24546T>A (p.Val8182=) rs397517508 0.00001
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys) rs377762626 0.00001
NM_001267550.2(TTN):c.26067C>T (p.Tyr8689=) rs377125716 0.00001
NM_001267550.2(TTN):c.26200+5G>A rs727503645 0.00001
NM_001267550.2(TTN):c.2649C>T (p.Phe883=) rs775588479 0.00001
NM_001267550.2(TTN):c.26639T>G (p.Phe8880Cys) rs397517518 0.00001
NM_001267550.2(TTN):c.26762-9A>G rs200821070 0.00001
NM_001267550.2(TTN):c.26916C>T (p.Tyr8972=) rs762329439 0.00001
NM_001267550.2(TTN):c.27217G>C (p.Val9073Leu) rs756400799 0.00001
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00001
NM_001267550.2(TTN):c.27618T>C (p.Tyr9206=) rs1457644440 0.00001
NM_001267550.2(TTN):c.27711C>T (p.Ser9237=) rs727504749 0.00001
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn) rs397517523 0.00001
NM_001267550.2(TTN):c.27886+5T>C rs876658050 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.2807T>C (p.Val936Ala) rs139567470 0.00001
NM_001267550.2(TTN):c.28321G>A (p.Gly9441Arg) rs397517529 0.00001
NM_001267550.2(TTN):c.28425G>T (p.Val9475=) rs727503642 0.00001
NM_001267550.2(TTN):c.28509A>G (p.Val9503=) rs756229382 0.00001
NM_001267550.2(TTN):c.28653G>C (p.Leu9551=) rs876657601 0.00001
NM_001267550.2(TTN):c.28709A>G (p.Asn9570Ser) rs727503641 0.00001
NM_001267550.2(TTN):c.28710T>C (p.Asn9570=) rs727504991 0.00001
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) rs397517530 0.00001
NM_001267550.2(TTN):c.29815G>C (p.Glu9939Gln) rs727503638 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.3031G>A (p.Gly1011Arg) rs397517546 0.00001
NM_001267550.2(TTN):c.30434-15G>A rs373562293 0.00001
NM_001267550.2(TTN):c.3070G>A (p.Val1024Ile) rs368770038 0.00001
NM_001267550.2(TTN):c.30725C>T (p.Ala10242Val) rs397517534 0.00001
NM_001267550.2(TTN):c.30893C>T (p.Ala10298Val) rs727504902 0.00001
NM_001267550.2(TTN):c.31426+11T>C rs901251232 0.00001
NM_001267550.2(TTN):c.31426+1G>C rs6749719 0.00001
NM_001267550.2(TTN):c.31791T>G (p.Pro10597=) rs397517539 0.00001
NM_001267550.2(TTN):c.31832C>G (p.Ala10611Gly) rs727503637 0.00001
NM_001267550.2(TTN):c.3201T>C (p.Thr1067=) rs876657603 0.00001
NM_001267550.2(TTN):c.33248-8C>G rs766957102 0.00001
NM_001267550.2(TTN):c.33445C>T (p.Pro11149Ser) rs377760800 0.00001
NM_001267550.2(TTN):c.33762A>G (p.Lys11254=) rs749466171 0.00001
NM_001267550.2(TTN):c.33911-7T>C rs397517545 0.00001
NM_001267550.2(TTN):c.34038T>G (p.Pro11346=) rs375714279 0.00001
NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn) rs368967197 0.00001
NM_001267550.2(TTN):c.34734A>G (p.Val11578=) rs866407525 0.00001
NM_001267550.2(TTN):c.34843C>T (p.Pro11615Ser) rs727504775 0.00001
NM_001267550.2(TTN):c.35314G>A (p.Glu11772Lys) rs727505263 0.00001
NM_001267550.2(TTN):c.39163A>G (p.Lys13055Glu) rs397517555 0.00001
NM_001267550.2(TTN):c.39296-4A>G rs368641171 0.00001
NM_001267550.2(TTN):c.39300C>T (p.Phe13100=) rs569579388 0.00001
NM_001267550.2(TTN):c.39472G>A (p.Val13158Met) rs876658056 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.4042A>G (p.Ser1348Gly) rs397517591 0.00001
NM_001267550.2(TTN):c.40877-7A>G rs727505201 0.00001
NM_001267550.2(TTN):c.41342G>A (p.Arg13781His) rs370878642 0.00001
NM_001267550.2(TTN):c.4147C>G (p.Pro1383Ala) rs377658313 0.00001
NM_001267550.2(TTN):c.41490C>T (p.Val13830=) rs397517564 0.00001
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val) rs545806408 0.00001
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His) rs374683153 0.00001
NM_001267550.2(TTN):c.42421A>G (p.Arg14141Gly) rs397517567 0.00001
NM_001267550.2(TTN):c.42649G>A (p.Glu14217Lys) rs727503629 0.00001
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe) rs397517568 0.00001
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr) rs397517572 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln) rs727505019 0.00001
NM_001267550.2(TTN):c.4452T>C (p.Pro1484=) rs727503695 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.45003C>T (p.Asn15001=) rs727505079 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.45895+10T>A rs373140286 0.00001
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys) rs397517582 0.00001
NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr) rs397517585 0.00001
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys) rs753664074 0.00001
NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile) rs727504878 0.00001
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu) rs727503623 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys) rs772152172 0.00001
NM_001267550.2(TTN):c.49189G>A (p.Val16397Met) rs397517595 0.00001
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys) rs764682084 0.00001
NM_001267550.2(TTN):c.49379C>G (p.Ser16460Cys) rs397517596 0.00001
NM_001267550.2(TTN):c.49532+8C>T rs397517597 0.00001
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=) rs397517598 0.00001
NM_001267550.2(TTN):c.50244C>T (p.Thr16748=) rs778337707 0.00001
NM_001267550.2(TTN):c.50355A>G (p.Arg16785=) rs192143556 0.00001
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599 0.00001
NM_001267550.2(TTN):c.50614G>C (p.Ala16872Pro) rs727503619 0.00001
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala) rs201302681 0.00001
NM_001267550.2(TTN):c.50769A>G (p.Glu16923=) rs373524326 0.00001
NM_001267550.2(TTN):c.51439C>A (p.Pro17147Thr) rs876658065 0.00001
NM_001267550.2(TTN):c.51565A>G (p.Lys17189Glu) rs727503618 0.00001
NM_001267550.2(TTN):c.52061A>T (p.Asp17354Val) rs397517606 0.00001
NM_001267550.2(TTN):c.52098G>A (p.Val17366=) rs727503617 0.00001
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) rs397517607 0.00001
NM_001267550.2(TTN):c.52181T>C (p.Leu17394Pro) rs727503616 0.00001
NM_001267550.2(TTN):c.52223A>C (p.Lys17408Thr) rs876658066 0.00001
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn) rs397517609 0.00001
NM_001267550.2(TTN):c.52330C>T (p.Arg17444Cys) rs778094750 0.00001
NM_001267550.2(TTN):c.52414G>A (p.Asp17472Asn) rs727503614 0.00001
NM_001267550.2(TTN):c.52667G>A (p.Ser17556Asn) rs750715335 0.00001
NM_001267550.2(TTN):c.53002+9C>T rs374671774 0.00001
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys) rs369001587 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53390C>T (p.Thr17797Ile) rs727503610 0.00001
NM_001267550.2(TTN):c.5354C>G (p.Thr1785Arg) rs397517649 0.00001
NM_001267550.2(TTN):c.53582-6C>G rs727503608 0.00001
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=) rs373277508 0.00001
NM_001267550.2(TTN):c.53717A>G (p.Lys17906Arg) rs727503606 0.00001
NM_001267550.2(TTN):c.53915G>A (p.Arg17972Gln) rs377169251 0.00001
NM_001267550.2(TTN):c.54188A>G (p.Tyr18063Cys) rs397517617 0.00001
NM_001267550.2(TTN):c.5418G>T (p.Leu1806Phe) rs397517650 0.00001
NM_001267550.2(TTN):c.54324T>C (p.Ser18108=) rs397517619 0.00001
NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg) rs377512675 0.00001
NM_001267550.2(TTN):c.55270-3T>C rs749109513 0.00001
NM_001267550.2(TTN):c.55340C>T (p.Pro18447Leu) rs397517622 0.00001
NM_001267550.2(TTN):c.55598G>A (p.Cys18533Tyr) rs727503599 0.00001
NM_001267550.2(TTN):c.55805C>A (p.Pro18602His) rs559554374 0.00001
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr) rs727503597 0.00001
NM_001267550.2(TTN):c.56747T>A (p.Val18916Glu) rs1296926879 0.00001
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val) rs876658068 0.00001
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe) rs727505347 0.00001
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala) rs587782985 0.00001
NM_001267550.2(TTN):c.57415A>C (p.Ile19139Leu) rs397517629 0.00001
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) rs371422299 0.00001
NM_001267550.2(TTN):c.57933T>C (p.Asp19311=) rs554555894 0.00001
NM_001267550.2(TTN):c.57995del (p.His19332fs) rs397517633 0.00001
NM_001267550.2(TTN):c.58074T>C (p.Arg19358=) rs397517632 0.00001
NM_001267550.2(TTN):c.583+5G>A rs397517663 0.00001
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=) rs727504980 0.00001
NM_001267550.2(TTN):c.58705G>A (p.Asp19569Asn) rs397517638 0.00001
NM_001267550.2(TTN):c.58711A>G (p.Met19571Val) rs770228515 0.00001
NM_001267550.2(TTN):c.58774A>G (p.Thr19592Ala) rs769094173 0.00001
NM_001267550.2(TTN):c.59360T>A (p.Ile19787Asn) rs768765076 0.00001
NM_001267550.2(TTN):c.59618T>C (p.Leu19873Pro) rs727503589 0.00001
NM_001267550.2(TTN):c.59685C>T (p.Tyr19895=) rs397517644 0.00001
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846 0.00001
NM_001267550.2(TTN):c.60023C>T (p.Pro20008Leu) rs199839492 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.60816G>A (p.Pro20272=) rs727504529 0.00001
NM_001267550.2(TTN):c.60876G>C (p.Trp20292Cys) rs397517647 0.00001
NM_001267550.2(TTN):c.61149G>C (p.Lys20383Asn) rs727504968 0.00001
NM_001267550.2(TTN):c.61163C>G (p.Ala20388Gly) rs397517648 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) rs756873840 0.00001
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371 0.00001
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala) rs538308579 0.00001
NM_001267550.2(TTN):c.63035C>T (p.Pro21012Leu) rs1476856667 0.00001
NM_001267550.2(TTN):c.63114C>A (p.Val21038=) rs201642579 0.00001
NM_001267550.2(TTN):c.6380A>G (p.Tyr2127Cys) rs397517688 0.00001
NM_001267550.2(TTN):c.63921G>A (p.Glu21307=) rs1466883677 0.00001
NM_001267550.2(TTN):c.63981A>G (p.Val21327=) rs397517656 0.00001
NM_001267550.2(TTN):c.64147G>A (p.Ala21383Thr) rs727503582 0.00001
NM_001267550.2(TTN):c.64184G>C (p.Gly21395Ala) rs769161359 0.00001
NM_001267550.2(TTN):c.64682G>T (p.Gly21561Val) rs111829923 0.00001
NM_001267550.2(TTN):c.64719C>T (p.Asp21573=) rs727504967 0.00001
NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met) rs765913263 0.00001
NM_001267550.2(TTN):c.65179G>A (p.Gly21727Ser) rs756099303 0.00001
NM_001267550.2(TTN):c.65275+13G>T rs727504999 0.00001
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr) rs727503580 0.00001
NM_001267550.2(TTN):c.65871G>A (p.Pro21957=) rs771651842 0.00001
NM_001267550.2(TTN):c.66441C>T (p.Ala22147=) rs727503578 0.00001
NM_001267550.2(TTN):c.66450T>G (p.Ala22150=) rs727504643 0.00001
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu) rs777364605 0.00001
NM_001267550.2(TTN):c.66610G>A (p.Val22204Met) rs376238023 0.00001
NM_001267550.2(TTN):c.66996T>C (p.Tyr22332=) rs397517668 0.00001
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=) rs397517671 0.00001
NM_001267550.2(TTN):c.6790+13G>A rs758773000 0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) rs144295295 0.00001
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=) rs397517673 0.00001
NM_001267550.2(TTN):c.68196G>A (p.Ser22732=) rs397517674 0.00001
NM_001267550.2(TTN):c.68282C>T (p.Ser22761Phe) rs397517676 0.00001
NM_001267550.2(TTN):c.68335C>A (p.His22779Asn) rs727504702 0.00001
NM_001267550.2(TTN):c.6844T>C (p.Tyr2282His) rs727503691 0.00001
NM_001267550.2(TTN):c.68712T>C (p.Thr22904=) rs397517678 0.00001
NM_001267550.2(TTN):c.69325G>A (p.Glu23109Lys) rs727503571 0.00001
NM_001267550.2(TTN):c.6941T>C (p.Ile2314Thr) rs397517708 0.00001
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys) rs397517682 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.70530G>A (p.Met23510Ile) rs727503569 0.00001
NM_001267550.2(TTN):c.70843G>A (p.Ala23615Thr) rs574614034 0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926 0.00001
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile) rs397517690 0.00001
NM_001267550.2(TTN):c.71909G>A (p.Arg23970Gln) rs727503563 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.72994G>T (p.Val24332Phe) rs876658081 0.00001
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu) rs376041680 0.00001
NM_001267550.2(TTN):c.73390C>T (p.Arg24464Trp) rs369098292 0.00001
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=) rs368530092 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.74968G>A (p.Gly24990Ser) rs727503561 0.00001
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu) rs531281558 0.00001
NM_001267550.2(TTN):c.75155G>A (p.Arg25052His) rs542720402 0.00001
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=) rs189187431 0.00001
NM_001267550.2(TTN):c.75364G>A (p.Val25122Met) rs376821762 0.00001
NM_001267550.2(TTN):c.7556T>C (p.Val2519Ala) rs372361514 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.76200T>C (p.Cys25400=) rs397517705 0.00001
NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr) rs372963832 0.00001
NM_001267550.2(TTN):c.78577A>C (p.Ile26193Leu) rs727505241 0.00001
NM_001267550.2(TTN):c.79122A>G (p.Glu26374=) rs727504497 0.00001
NM_001267550.2(TTN):c.79127C>A (p.Ala26376Glu) rs397517714 0.00001
NM_001267550.2(TTN):c.79145A>C (p.Asn26382Thr) rs727505049 0.00001
NM_001267550.2(TTN):c.79225C>T (p.Arg26409Cys) rs748258568 0.00001
NM_001267550.2(TTN):c.79518T>C (p.Leu26506=) rs367608273 0.00001
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln) rs727504673 0.00001
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln) rs898433512 0.00001
NM_001267550.2(TTN):c.80608C>A (p.Pro26870Thr) rs397517718 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg) rs727504678 0.00001
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp) rs746488250 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.82616C>G (p.Ser27539Cys) rs727503556 0.00001
NM_001267550.2(TTN):c.82859G>T (p.Cys27620Phe) rs762472521 0.00001
NM_001267550.2(TTN):c.8292G>A (p.Leu2764=) rs727503687 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr) rs397517723 0.00001
NM_001267550.2(TTN):c.83560A>G (p.Thr27854Ala) rs876658086 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.84494A>G (p.His28165Arg) rs876658088 0.00001
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) rs397517730 0.00001
NM_001267550.2(TTN):c.84962A>G (p.Gln28321Arg) rs760149145 0.00001
NM_001267550.2(TTN):c.85130T>C (p.Ile28377Thr) rs876658089 0.00001
NM_001267550.2(TTN):c.85195G>A (p.Glu28399Lys) rs397517732 0.00001
NM_001267550.2(TTN):c.85351C>T (p.Pro28451Ser) rs727503554 0.00001
NM_001267550.2(TTN):c.85649T>A (p.Val28550Asp) rs727505194 0.00001
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr) rs397517733 0.00001
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=) rs773001228 0.00001
NM_001267550.2(TTN):c.8609A>T (p.Gln2870Leu) rs372008728 0.00001
NM_001267550.2(TTN):c.86139C>T (p.Ser28713=) rs750163793 0.00001
NM_001267550.2(TTN):c.86393G>A (p.Arg28798Lys) rs781458689 0.00001
NM_001267550.2(TTN):c.86435T>C (p.Ile28812Thr) rs727504959 0.00001
NM_001267550.2(TTN):c.86934C>T (p.Val28978=) rs531340219 0.00001
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu) rs876658090 0.00001
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=) rs369444690 0.00001
NM_001267550.2(TTN):c.87663T>C (p.Ser29221=) rs397517737 0.00001
NM_001267550.2(TTN):c.87765T>C (p.Thr29255=) rs397517738 0.00001
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys) rs727505102 0.00001
NM_001267550.2(TTN):c.88307-15C>T rs727505307 0.00001
NM_001267550.2(TTN):c.88688G>A (p.Gly29563Asp) rs1335432771 0.00001
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=) rs371678936 0.00001
NM_001267550.2(TTN):c.89111A>G (p.Tyr29704Cys) rs727504503 0.00001
NM_001267550.2(TTN):c.89252T>C (p.Ile29751Thr) rs397517742 0.00001
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His) rs369279892 0.00001
NM_001267550.2(TTN):c.89628T>G (p.Asp29876Glu) rs397517743 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys) rs397517747 0.00001
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile) rs727505024 0.00001
NM_001267550.2(TTN):c.91339T>C (p.Leu30447=) rs397517753 0.00001
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520 0.00001
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00001
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val) rs535151633 0.00001
NM_001267550.2(TTN):c.92383G>A (p.Val30795Ile) rs369025866 0.00001
NM_001267550.2(TTN):c.92455G>A (p.Val30819Ile) rs368511235 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_001267550.2(TTN):c.93322A>G (p.Ile31108Val) rs727504787 0.00001
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=) rs727504528 0.00001
NM_001267550.2(TTN):c.94020A>G (p.Glu31340=) rs547439339 0.00001
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys) rs727503549 0.00001
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys) rs727503682 0.00001
NM_001267550.2(TTN):c.9449G>A (p.Arg3150Gln) rs141093658 0.00001
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) rs369870689 0.00001
NM_001267550.2(TTN):c.94748G>A (p.Arg31583His) rs727503544 0.00001
NM_001267550.2(TTN):c.95281G>A (p.Glu31761Lys) rs727505342 0.00001
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg) rs794729539 0.00001
NM_001267550.2(TTN):c.95567G>A (p.Arg31856His) rs876658093 0.00001
NM_001267550.2(TTN):c.95652C>T (p.Thr31884=) rs397517762 0.00001
NM_001267550.2(TTN):c.95669G>T (p.Gly31890Val) rs763832653 0.00001
NM_001267550.2(TTN):c.95923C>T (p.Leu31975Phe) rs757718784 0.00001
NM_001267550.2(TTN):c.96315T>G (p.Thr32105=) rs727503540 0.00001
NM_001267550.2(TTN):c.96535G>A (p.Val32179Met) rs727505082 0.00001
NM_001267550.2(TTN):c.96904+8C>T rs528358945 0.00001
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val) rs727504981 0.00001
NM_001267550.2(TTN):c.96978G>A (p.Leu32326=) rs397517765 0.00001
NM_001267550.2(TTN):c.97051G>A (p.Glu32351Lys) rs727504879 0.00001
NM_001267550.2(TTN):c.97285G>A (p.Gly32429Ser) rs397517768 0.00001
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His) rs750047570 0.00001
NM_001267550.2(TTN):c.97348G>A (p.Val32450Ile) rs397517769 0.00001
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His) rs397517770 0.00001
NM_001267550.2(TTN):c.97488C>T (p.Ser32496=) rs727504527 0.00001
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys) rs761050391 0.00001
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) rs397517771 0.00001
NM_001267550.2(TTN):c.98034T>C (p.Cys32678=) rs727504928 0.00001
NM_001267550.2(TTN):c.98095C>T (p.Leu32699Phe) rs397517774 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001267550.2(TTN):c.98684-10A>G rs727505072 0.00001
NM_001267550.2(TTN):c.9870T>C (p.Asp3290=) rs727503680 0.00001
NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr) rs727504962 0.00001
NM_001267550.2(TTN):c.99466C>T (p.His33156Tyr) rs374666520 0.00001
NM_001267550.2(TTN):c.9988+9G>A rs397517801 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=) rs746492909 0.00001
NM_001276345.2(TNNT2):c.200-4C>G rs397516448 0.00001
NM_001276345.2(TNNT2):c.233+6T>C rs397516449 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.39G>A (p.Glu13=) rs727503516 0.00001
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=) rs727504322 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter) rs397516469 0.00001
NM_001276345.2(TNNT2):c.52+6C>T rs397516472 0.00001
NM_001276345.2(TNNT2):c.522C>T (p.Asn174=) rs483352833 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001276345.2(TNNT2):c.815A>G (p.Asn272Ser) rs397516483 0.00001
NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter) rs748970759 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys) rs727502969 0.00001
NM_001277115.2(DNAH11):c.3853-12T>A rs727502966 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter) rs797045085 0.00001
NM_001277115.2(DNAH11):c.990C>T (p.Leu330=) rs376448045 0.00001
NM_001286445.3(RIPOR2):c.1245G>T (p.Leu415=) rs1406684216 0.00001
NM_001292063.2(OTOG):c.1125C>G (p.Thr375=) rs897534989 0.00001
NM_001292063.2(OTOG):c.2625C>G (p.Gly875=) rs876657552 0.00001
NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp) rs1260548574 0.00001
NM_001292063.2(OTOG):c.2885C>T (p.Ser962Leu) rs750521452 0.00001
NM_001292063.2(OTOG):c.2911G>A (p.Ala971Thr) rs897016393 0.00001
NM_001292063.2(OTOG):c.3078G>A (p.Arg1026=) rs1244694943 0.00001
NM_001292063.2(OTOG):c.3177C>T (p.Val1059=) rs184126223 0.00001
NM_001292063.2(OTOG):c.3183A>C (p.Thr1061=) rs780180476 0.00001
NM_001292063.2(OTOG):c.3398C>T (p.Ala1133Val) rs768393908 0.00001
NM_001292063.2(OTOG):c.4147C>T (p.Arg1383Cys) rs566689671 0.00001
NM_001292063.2(OTOG):c.422G>A (p.Arg141Gln) rs1260721968 0.00001
NM_001292063.2(OTOG):c.4247G>A (p.Arg1416Gln) rs147318012 0.00001
NM_001292063.2(OTOG):c.4657G>T (p.Gly1553Ter) rs897822685 0.00001
NM_001292063.2(OTOG):c.494C>A (p.Thr165Asn) rs1396310498 0.00001
NM_001292063.2(OTOG):c.4991A>T (p.His1664Leu) rs1427538566 0.00001
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly) rs876657555 0.00001
NM_001292063.2(OTOG):c.5979G>A (p.Ser1993=) rs925237259 0.00001
NM_001292063.2(OTOG):c.6555G>A (p.Trp2185Ter) rs1193023501 0.00001
NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys) rs1311003002 0.00001
NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met) rs188832359 0.00001
NM_001292063.2(OTOG):c.7048G>A (p.Glu2350Lys) rs375080152 0.00001
NM_001292063.2(OTOG):c.7422C>T (p.Phe2474=) rs983539027 0.00001
NM_001292063.2(OTOG):c.7423G>C (p.Gly2475Arg) rs771765463 0.00001
NM_001292063.2(OTOG):c.7617G>T (p.Leu2539=) rs908026995 0.00001
NM_001292063.2(OTOG):c.7767G>A (p.Thr2589=) rs748617558 0.00001
NM_001292063.2(OTOG):c.7846C>T (p.Leu2616=) rs876657558 0.00001
NM_001292063.2(OTOG):c.8038G>A (p.Glu2680Lys) rs758935605 0.00001
NM_001292063.2(OTOG):c.8247C>T (p.Asn2749=) rs778915475 0.00001
NM_001292063.2(OTOG):c.8287C>T (p.Leu2763=) rs1406354520 0.00001
NM_001292063.2(OTOG):c.8326C>T (p.Arg2776Cys) rs948010343 0.00001
NM_001318895.3(FHL2):c.156+2T>C rs727503059 0.00001
NM_001318895.3(FHL2):c.724C>T (p.Arg242Trp) rs397517961 0.00001
NM_001330.5(CTF1):c.25+6G>C rs397516647 0.00001
NM_001330.5(CTF1):c.26-12C>G rs727502948 0.00001
NM_001330.5(CTF1):c.341G>A (p.Arg114His) rs397516649 0.00001
NM_001330.5(CTF1):c.468C>T (p.Ala156=) rs397516650 0.00001
NM_001330.5(CTF1):c.546C>T (p.Arg182=) rs397516651 0.00001
NM_001330691.3(CEP78):c.1797+5A>G rs750594582 0.00001
NM_001354604.2(MITF):c.1108C>G (p.Arg370Gly) rs372113245 0.00001
NM_001354604.2(MITF):c.1476C>T (p.Pro492=) rs745749254 0.00001
NM_001354604.2(MITF):c.355-8A>G rs876657867 0.00001
NM_001354604.2(MITF):c.590A>G (p.Tyr197Cys) rs763827931 0.00001
NM_001354689.3(RAF1):c.1200C>T (p.Val400=) rs397516814 0.00001
NM_001365276.2(TNXB):c.4996C>T (p.Arg1666Ter) rs746016355 0.00001
NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn) rs749548708 0.00001
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His) rs876657782 0.00001
NM_001369.3(DNAH5):c.6579+3A>G rs727502976 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) rs756216163 0.00001
NM_001371333.1(DIABLO):c.349T>C (p.Tyr117His) rs764412748 0.00001
NM_001378454.1(ALMS1):c.10058C>G (p.Pro3353Arg) rs760647310 0.00001
NM_001378454.1(ALMS1):c.11560G>A (p.Val3854Met) rs757475077 0.00001
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe) rs765461259 0.00001
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys) rs45484791 0.00001
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu) rs1481573722 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=) rs1217540541 0.00001
NM_001378609.3(OTOGL):c.1102G>A (p.Ala368Thr) rs767747155 0.00001
NM_001378609.3(OTOGL):c.1396G>T (p.Val466Leu) rs760941023 0.00001
NM_001378609.3(OTOGL):c.2271C>T (p.Phe757=) rs949936521 0.00001
NM_001378609.3(OTOGL):c.242G>A (p.Cys81Tyr) rs775349315 0.00001
NM_001378609.3(OTOGL):c.2506A>G (p.Thr836Ala) rs876657946 0.00001
NM_001378609.3(OTOGL):c.2849T>C (p.Ile950Thr) rs749226050 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3376C>A (p.Gln1126Lys) rs876657947 0.00001
NM_001378609.3(OTOGL):c.3450+9A>G rs576035717 0.00001
NM_001378609.3(OTOGL):c.3804A>G (p.Ser1268=) rs183046919 0.00001
NM_001378609.3(OTOGL):c.39G>A (p.Trp13Ter) rs1191512072 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs) rs766971906 0.00001
NM_001378609.3(OTOGL):c.454G>T (p.Asp152Tyr) rs1399912212 0.00001
NM_001378609.3(OTOGL):c.4764G>A (p.Lys1588=) rs774916755 0.00001
NM_001378609.3(OTOGL):c.5014C>T (p.Arg1672Ter) rs759174628 0.00001
NM_001378609.3(OTOGL):c.5095G>A (p.Gly1699Ser) rs563989349 0.00001
NM_001378609.3(OTOGL):c.5758G>T (p.Val1920Phe) rs768024118 0.00001
NM_001378609.3(OTOGL):c.6226+14A>G rs780160987 0.00001
NM_001378609.3(OTOGL):c.647T>C (p.Ile216Thr) rs751591512 0.00001
NM_001378609.3(OTOGL):c.816A>G (p.Gln272=) rs772509606 0.00001
NM_001378609.3(OTOGL):c.937G>C (p.Ala313Pro) rs753400665 0.00001
NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter) rs777752091 0.00001
NM_001378778.1(MPDZ):c.4906C>T (p.Arg1636Ter) rs797045095 0.00001
NM_001379180.1(ESRRB):c.*1550C>A rs772147649 0.00001
NM_001379180.1(ESRRB):c.1006G>A (p.Ala336Thr) rs876657463 0.00001
NM_001379180.1(ESRRB):c.378G>A (p.Val126=) rs190465039 0.00001
NM_001379180.1(ESRRB):c.538C>T (p.Arg180Cys) rs576940797 0.00001
NM_001379180.1(ESRRB):c.850+10T>A rs567273831 0.00001
NM_001379500.1(COL18A1):c.3241C>T (p.Arg1081Ter) rs771752014 0.00001
NM_001382.4(DPAGT1):c.643+2T>C rs774754436 0.00001
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449 0.00001
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile) rs727505253 0.00001
NM_001384140.1(PCDH15):c.2092-6T>C rs780684363 0.00001
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys) rs753912234 0.00001
NM_001384140.1(PCDH15):c.2385A>G (p.Ala795=) rs61731362 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453 0.00001
NM_001384140.1(PCDH15):c.3122+3A>G rs373365331 0.00001
NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=) rs776720353 0.00001
NM_001384140.1(PCDH15):c.3276T>C (p.Asn1092=) rs772160626 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3444C>T (p.Phe1148=) rs876657562 0.00001
NM_001384140.1(PCDH15):c.3501+13A>G rs727503365 0.00001
NM_001384140.1(PCDH15):c.3719T>A (p.Val1240Asp) rs397517458 0.00001
NM_001384140.1(PCDH15):c.4367+8G>A rs727504745 0.00001
NM_001384140.1(PCDH15):c.4672-1689G>A rs185457086 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384474.1(LOXHD1):c.*4G>A rs876657856 0.00001
NM_001384474.1(LOXHD1):c.1061T>A (p.Leu354His) rs727503150 0.00001
NM_001384474.1(LOXHD1):c.1469G>A (p.Arg490Gln) rs397517860 0.00001
NM_001384474.1(LOXHD1):c.1912G>A (p.Val638Met) rs876657854 0.00001
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr) rs779377762 0.00001
NM_001384474.1(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860 0.00001
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met) rs769899814 0.00001
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu) rs534815867 0.00001
NM_001384474.1(LOXHD1):c.3108C>T (p.Ala1036=) rs727503145 0.00001
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter) rs727505104 0.00001
NM_001384474.1(LOXHD1):c.3412G>A (p.Glu1138Lys) rs1230147513 0.00001
NM_001384474.1(LOXHD1):c.3428A>T (p.Asp1143Val) rs727503143 0.00001
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862 0.00001
NM_001384474.1(LOXHD1):c.3672C>T (p.Asp1224=) rs876657495 0.00001
NM_001384474.1(LOXHD1):c.37A>G (p.Ile13Val) rs1384593055 0.00001
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859 0.00001
NM_001384474.1(LOXHD1):c.4281T>G (p.Ile1427Met) rs727503140 0.00001
NM_001384474.1(LOXHD1):c.4349A>G (p.Tyr1450Cys) rs1416571809 0.00001
NM_001384474.1(LOXHD1):c.4497A>G (p.Ser1499=) rs876657497 0.00001
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His) rs778691392 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.5089G>A (p.Gly1697Ser) rs876657853 0.00001
NM_001384474.1(LOXHD1):c.51C>T (p.Ala17=) rs1454767391 0.00001
NM_001384474.1(LOXHD1):c.5273T>A (p.Val1758Asp) rs727503139 0.00001
NM_001384474.1(LOXHD1):c.5314G>A (p.Gly1772Arg) rs775186197 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384474.1(LOXHD1):c.6072G>A (p.Thr2024=) rs1376734175 0.00001
NM_001384474.1(LOXHD1):c.6112C>T (p.Leu2038=) rs1272576323 0.00001
NM_001384474.1(LOXHD1):c.6269G>A (p.Arg2090Gln) rs760286647 0.00001
NM_001384474.1(LOXHD1):c.6340G>A (p.Val2114Met) rs1336623338 0.00001
NM_001384474.1(LOXHD1):c.6342-15C>T rs1354633431 0.00001
NM_001384474.1(LOXHD1):c.6572A>G (p.Lys2191Arg) rs1410560877 0.00001
NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys) rs376559755 0.00001
NM_001384474.1(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781 0.00001
NM_001384474.1(LOXHD1):c.670A>C (p.Ile224Leu) rs876657499 0.00001
NM_001386795.1(DTNA):c.1491G>A (p.Lys497=) rs397517444 0.00001
NM_001386795.1(DTNA):c.17G>C (p.Gly6Ala) rs397517446 0.00001
NM_001386795.1(DTNA):c.228C>T (p.Leu76=) rs1002773493 0.00001
NM_001386795.1(DTNA):c.435G>A (p.Met145Ile) rs751953774 0.00001
NM_001386795.1(DTNA):c.67+12T>A rs876657460 0.00001
NM_001393500.2(TOMT):c.105C>T (p.Ser35=) rs890009722 0.00001
NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln) rs137853185 0.00001
NM_001393500.2(TOMT):c.18A>G (p.Ala6=) rs876657500 0.00001
NM_001393500.2(TOMT):c.19T>C (p.Leu7=) rs876657501 0.00001
NM_001393500.2(TOMT):c.630C>G (p.Asp210Glu) rs876657863 0.00001
NM_001393500.2(TOMT):c.89C>T (p.Thr30Met) rs876657502 0.00001
NM_001393500.2(TOMT):c.97C>G (p.Leu33Val) rs876657864 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_001563.4(IMPG1):c.1795C>T (p.Arg599Ter) rs1335348760 0.00001
NM_001614.5(ACTG1):c.150G>A (p.Lys50=) rs1482374138 0.00001
NM_001614.5(ACTG1):c.390G>A (p.Pro130=) rs561518636 0.00001
NM_001614.5(ACTG1):c.405C>T (p.Ala135=) rs576214455 0.00001
NM_001614.5(ACTG1):c.636C>A (p.Ile212=) rs727502883 0.00001
NM_001614.5(ACTG1):c.642G>A (p.Glu214=) rs782187026 0.00001
NM_001614.5(ACTG1):c.828G>A (p.Glu276=) rs727504806 0.00001
NM_001692.4(ATP6V1B1):c.305G>A (p.Arg102Lys) rs202011016 0.00001
NM_001692.4(ATP6V1B1):c.785+1G>A rs727504746 0.00001
NM_001844.5(COL2A1):c.3205G>C (p.Ala1069Pro) rs200112269 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.282C>G (p.Ala94=) rs397516693 0.00001
NM_001927.4(DES):c.369del (p.Ile123fs) rs747289875 0.00001
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001927.4(DES):c.853G>A (p.Ala285Thr) rs876657771 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001927.4(DES):c.974G>A (p.Arg325Gln) rs766035912 0.00001
NM_001943.5(DSG2):c.-15G>A rs727502982 0.00001
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_001943.5(DSG2):c.1284T>C (p.Tyr428=) rs202095254 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968 0.00001
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr) rs549421694 0.00001
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047 0.00001
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989 0.00001
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe) rs371498622 0.00001
NM_001943.5(DSG2):c.308T>C (p.Val103Ala) rs876657790 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.782G>A (p.Arg261His) rs727502984 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_001972.4(ELANE):c.598-1G>A rs201117839 0.00001
NM_001987.5(ETV6):c.1037A>G (p.Tyr346Cys) rs1591749369 0.00001
NM_002109.6(HARS1):c.1177G>A (p.Val393Met) rs192923161 0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016 0.00001
NM_002230.4(JUP):c.1696G>A (p.Ala566Thr) rs727504695 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.2086+7G>C rs727504940 0.00001
NM_002230.4(JUP):c.708-7C>T rs397517301 0.00001
NM_002294.3(LAMP2):c.*2773A>C rs397516587 0.00001
NM_002294.3(LAMP2):c.1093+2449C>T rs765143363 0.00001
NM_002294.3(LAMP2):c.1211A>T (p.His404Leu) rs727504957 0.00001
NM_002294.3(LAMP2):c.214G>A (p.Val72Met) rs778193991 0.00001
NM_002294.3(LAMP2):c.657A>G (p.Glu219=) rs876657484 0.00001
NM_002294.3(LAMP2):c.813A>G (p.Leu271=) rs876657485 0.00001
NM_002337.4(LRPAP1):c.181C>T (p.Gln61Ter) rs773243225 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002471.4(MYH6):c.1809C>T (p.Asn603=) rs186134696 0.00001
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002471.4(MYH6):c.252C>T (p.Phe84=) rs397516757 0.00001
NM_002471.4(MYH6):c.253G>A (p.Asp85Asn) rs397516758 0.00001
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met) rs727503238 0.00001
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) rs375169402 0.00001
NM_002471.4(MYH6):c.328G>A (p.Ala110Thr) rs397516760 0.00001
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=) rs529107714 0.00001
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met) rs201051663 0.00001
NM_002471.4(MYH6):c.3784C>T (p.Arg1262Cys) rs397516763 0.00001
NM_002471.4(MYH6):c.4165G>A (p.Glu1389Lys) rs397516768 0.00001
NM_002471.4(MYH6):c.4176-6G>T rs760780588 0.00001
NM_002471.4(MYH6):c.4300G>A (p.Val1434Ile) rs397516769 0.00001
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His) rs142556730 0.00001
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_002471.4(MYH6):c.5019C>T (p.Ile1673=) rs397516773 0.00001
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His) rs727504502 0.00001
NM_002471.4(MYH6):c.5089A>G (p.Thr1697Ala) rs727503233 0.00001
NM_002471.4(MYH6):c.5223G>A (p.Ser1741=) rs368828361 0.00001
NM_002471.4(MYH6):c.568C>T (p.Arg190Cys) rs397516777 0.00001
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg) rs773960235 0.00001
NM_002473.6(MYH9):c.1389G>A (p.Ser463=) rs757449139 0.00001
NM_002473.6(MYH9):c.1587C>T (p.Asp529=) rs753996104 0.00001
NM_002473.6(MYH9):c.1890C>T (p.Thr630=) rs762239398 0.00001
NM_002473.6(MYH9):c.2077C>T (p.Arg693Cys) rs751852988 0.00001
NM_002473.6(MYH9):c.2565G>A (p.Val855=) rs370413515 0.00001
NM_002473.6(MYH9):c.2789G>A (p.Arg930His) rs727504740 0.00001
NM_002473.6(MYH9):c.2989C>T (p.Leu997=) rs757028068 0.00001
NM_002473.6(MYH9):c.333+13C>T rs727503295 0.00001
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_002473.6(MYH9):c.3561C>A (p.Ile1187=) rs876657520 0.00001
NM_002473.6(MYH9):c.3697G>A (p.Val1233Met) rs542791128 0.00001
NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn) rs767235227 0.00001
NM_002473.6(MYH9):c.4023C>T (p.Phe1341=) rs876657521 0.00001
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) rs373912645 0.00001
NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln) rs727503285 0.00001
NM_002473.6(MYH9):c.4638C>T (p.Asp1546=) rs727503283 0.00001
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met) rs727504669 0.00001
NM_002473.6(MYH9):c.4932+13G>A rs373453112 0.00001
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His) rs777701033 0.00001
NM_002473.6(MYH9):c.519-6T>G rs867195616 0.00001
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) rs727504684 0.00001
NM_002473.6(MYH9):c.5490C>T (p.Arg1830=) rs754771834 0.00001
NM_002473.6(MYH9):c.5765+8G>T rs766826415 0.00001
NM_002473.6(MYH9):c.5766-10C>T rs727503282 0.00001
NM_002473.6(MYH9):c.888G>A (p.Pro296=) rs559813309 0.00001
NM_002473.6(MYH9):c.968T>C (p.Met323Thr) rs1364094810 0.00001
NM_002524.5(NRAS):c.159G>A (p.Leu53=) rs114668710 0.00001
NM_002654.6(PKM):c.1248C>T (p.Ala416=) rs11558368 0.00001
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) rs397516786 0.00001
NM_002691.4(POLD1):c.1573C>T (p.Arg525Trp) rs201804732 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.868G>A (p.Val290Met) rs748657880 0.00001
NM_002700.3(POU4F3):c.192T>C (p.Asp64=) rs727505245 0.00001
NM_002755.4(MAP2K1):c.1022+10C>T rs397516787 0.00001
NM_002755.4(MAP2K1):c.1039G>A (p.Ala347Thr) rs746354996 0.00001
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg) rs774932586 0.00001
NM_002755.4(MAP2K1):c.263A>G (p.Lys88Arg) rs762354445 0.00001
NM_002755.4(MAP2K1):c.39G>A (p.Pro13=) rs876657503 0.00001
NM_002755.4(MAP2K1):c.631G>A (p.Val211Ile) rs727505206 0.00001
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002755.4(MAP2K1):c.879C>T (p.Pro293=) rs370521459 0.00001
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe) rs1361965478 0.00001
NM_002764.4(PRPS1):c.12C>T (p.Ile4=) rs752590804 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.1161C>T (p.Asn387=) rs727505180 0.00001
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met) rs397516796 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_002834.5(PTPN11):c.1713-5T>A rs876657964 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.66A>G (p.Thr22=) rs397516808 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002880.3(RAF1):c.-382A>G rs397516812 0.00001
NM_002880.4(RAF1):c.-169G>A rs727504398 0.00001
NM_002880.4(RAF1):c.1063A>G (p.Ile355Val) rs727504719 0.00001
NM_002880.4(RAF1):c.1688G>A (p.Arg563Gln) rs727504827 0.00001
NM_002880.4(RAF1):c.171T>C (p.Thr57=) rs751571550 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002880.4(RAF1):c.321T>C (p.Gly107=) rs201937982 0.00001
NM_002880.4(RAF1):c.536A>G (p.Lys179Arg) rs1271531726 0.00001
NM_002880.4(RAF1):c.708C>T (p.His236=) rs370658857 0.00001
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln) rs752713997 0.00001
NM_002880.4(RAF1):c.990+9A>G rs559532794 0.00001
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter) rs180760483 0.00001
NM_002906.4(RDX):c.1364A>C (p.Asp455Ala) rs727505062 0.00001
NM_002906.4(RDX):c.1707A>T (p.Arg569=) rs1591131619 0.00001
NM_002906.4(RDX):c.1729A>G (p.Ile577Val) rs370958814 0.00001
NM_002906.4(RDX):c.72A>G (p.Thr24=) rs148468207 0.00001
NM_002906.4(RDX):c.995T>C (p.Ile332Thr) rs533107164 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003068.5(SNAI2):c.571G>A (p.Gly191Ser) rs757418816 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp) rs397516847 0.00001
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) rs397516848 0.00001
NM_003280.3(TNNC1):c.454+6C>G rs750021293 0.00001
NM_003280.3(TNNC1):c.56-9T>C rs727503497 0.00001
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) rs267607123 0.00001
NM_003319.4(TTN):c.16349dup (p.Phe5451fs) rs752856716 0.00001
NM_003401.5(XRCC4):c.628A>T (p.Lys210Ter) rs991596636 0.00001
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp) rs397516853 0.00001
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys) rs397516854 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003476.5(CSRP3):c.516T>C (p.Tyr172=) rs727504575 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003664.5(AP3B1):c.1814C>A (p.Pro605Gln) rs374289196 0.00001
NM_003672.4(CDC14A):c.1371G>A (p.Thr457=) rs751290983 0.00001
NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter) rs765155697 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.473G>A (p.Arg158His) rs397516864 0.00001
NM_003803.4(MYOM1):c.*10C>T rs876657915 0.00001
NM_003803.4(MYOM1):c.120C>G (p.Thr40=) rs876657535 0.00001
NM_003803.4(MYOM1):c.290G>T (p.Gly97Val) rs568600892 0.00001
NM_003803.4(MYOM1):c.297A>G (p.Thr99=) rs369402806 0.00001
NM_003803.4(MYOM1):c.4351C>G (p.Leu1451Val) rs876657917 0.00001
NM_003803.4(MYOM1):c.4586A>G (p.Tyr1529Cys) rs876657918 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys) rs397516870 0.00001
NM_004004.6(GJB2):c.219C>T (p.His73=) rs727504755 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.267C>G (p.Leu89=) rs727503067 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) rs199790409 0.00001
NM_004006.3(DMD):c.1975G>A (p.Glu659Lys) rs748567438 0.00001
NM_004006.3(DMD):c.4175A>G (p.Gln1392Arg) rs876657779 0.00001
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr) rs764330616 0.00001
NM_004006.3(DMD):c.7660+15A>G rs876657452 0.00001
NM_004086.3(COCH):c.263G>T (p.Gly88Val) rs121908928 0.00001
NM_004086.3(COCH):c.764T>C (p.Phe255Ser) rs1555311790 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_004100.5(EYA4):c.1294G>C (p.Val432Leu) rs145253833 0.00001
NM_004100.5(EYA4):c.1308T>C (p.Asp436=) rs1029890565 0.00001
NM_004100.5(EYA4):c.1485C>T (p.Tyr495=) rs745611778 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004100.5(EYA4):c.512G>T (p.Gly171Val) rs1157191952 0.00001
NM_004100.5(EYA4):c.723A>G (p.Pro241=) rs556550485 0.00001
NM_004100.5(EYA4):c.811C>G (p.Pro271Ala) rs752023028 0.00001
NM_004100.5(EYA4):c.901G>A (p.Asp301Asn) rs779172192 0.00001
NM_004230.4(S1PR2):c.878G>A (p.Arg293Gln) rs376403797 0.00001
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr) rs876657745 0.00001
NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile) rs727502900 0.00001
NM_004281.4(BAG3):c.283C>G (p.Pro95Ala) rs727502898 0.00001
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln) rs876657746 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004281.4(BAG3):c.465A>G (p.Ala155=) rs775151738 0.00001
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp) rs759573189 0.00001
NM_004329.3(BMPR1A):c.506_507insTCC (p.Ile169_Phe170insPro) rs763554505 0.00001
NM_004333.6(BRAF):c.1236C>T (p.Asn412=) rs397516888 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.1347T>C (p.Asp449=) rs397516889 0.00001
NM_004333.6(BRAF):c.2128-10T>C rs397516898 0.00001
NM_004333.6(BRAF):c.2229T>C (p.Phe743=) rs397516901 0.00001
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004333.6(BRAF):c.714A>T (p.Val238=) rs397516902 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004403.3(GSDME):c.862+10dup rs730880353 0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.145A>G (p.Thr49Ala) rs142059019 0.00001
NM_004415.4(DSP):c.2131-10T>C rs369821143 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met) rs727502999 0.00001
NM_004415.4(DSP):c.3200C>T (p.Ala1067Val) rs1317030435 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4419C>T (p.Ala1473=) rs727504542 0.00001
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln) rs397516942 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 0.00001
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys) rs397516951 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile) rs727504569 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004415.4(DSP):c.8372G>A (p.Arg2791His) rs749339594 0.00001
NM_004415.4(DSP):c.844G>A (p.Glu282Lys) rs397516966 0.00001
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) rs397516970 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004447.6(EPS8):c.1542G>A (p.Lys514=) rs570566810 0.00001
NM_004448.4(ERBB2):c.2443G>A (p.Gly815Arg) rs368094521 0.00001
NM_004517.4(ILK):c.632G>A (p.Arg211His) rs200288502 0.00001
NM_004568.6(SERPINB6):c.1128G>A (p.Pro376=) rs727505227 0.00001
NM_004568.6(SERPINB6):c.178A>G (p.Asn60Asp) rs1442219139 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004700.4(KCNQ4):c.1179C>T (p.Gly393=) rs1431582898 0.00001
NM_004700.4(KCNQ4):c.1216G>A (p.Asp406Asn) rs1264123218 0.00001
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val) rs145732892 0.00001
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile) rs778538229 0.00001
NM_004700.4(KCNQ4):c.1770G>A (p.Gly590=) rs762279980 0.00001
NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg) rs749565877 0.00001
NM_004700.4(KCNQ4):c.386A>G (p.Asn129Ser) rs761034165 0.00001
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277 0.00001
NM_004700.4(KCNQ4):c.946-3T>A rs876657840 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532 0.00001
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys) rs727504668 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_004985.5(KRAS):c.407G>A (p.Ser136Asn) rs757816355 0.00001
NM_004999.4(MYO6):c.1079-5A>G rs774020683 0.00001
NM_004999.4(MYO6):c.1212A>G (p.Gly404=) rs397517044 0.00001
NM_004999.4(MYO6):c.178G>C (p.Glu60Gln) rs757420692 0.00001
NM_004999.4(MYO6):c.1853G>A (p.Arg618Gln) rs777201018 0.00001
NM_004999.4(MYO6):c.2286+8T>C rs780274416 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_004999.4(MYO6):c.2507G>A (p.Arg836His) rs876657909 0.00001
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) rs121912561 0.00001
NM_004999.4(MYO6):c.2658+8A>G rs397517048 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_004999.4(MYO6):c.3137+5G>A rs397517050 0.00001
NM_004999.4(MYO6):c.3384A>G (p.Gln1128=) rs397517051 0.00001
NM_004999.4(MYO6):c.465C>T (p.Ala155=) rs200963569 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_004999.4(MYO6):c.887A>G (p.Lys296Arg) rs1402918571 0.00001
NM_005120.3(MED12):c.4047+14G>A rs774488297 0.00001
NM_005159.5(ACTC1):c.229A>G (p.Ile77Val) rs397517056 0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005188.4(CBL):c.1071C>T (p.Pro357=) rs397517075 0.00001
NM_005188.4(CBL):c.1096-1G>T rs397517076 0.00001
NM_005188.4(CBL):c.1622A>T (p.Asp541Val) rs147285276 0.00001
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly) rs552590011 0.00001
NM_005188.4(CBL):c.2434+15dup rs397517079 0.00001
NM_005188.4(CBL):c.2583C>T (p.Ile861=) rs397517080 0.00001
NM_005188.4(CBL):c.2652C>T (p.Asn884=) rs879302360 0.00001
NM_005188.4(CBL):c.522T>C (p.Phe174=) rs727502912 0.00001
NM_005188.4(CBL):c.595A>G (p.Ile199Val) rs397517082 0.00001
NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln) rs727502964 0.00001
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr) rs727502961 0.00001
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) rs779376542 0.00001
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838 0.00001
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=) rs727504670 0.00001
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln) rs727504973 0.00001
NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala) rs778493344 0.00001
NM_005228.5(EGFR):c.2125G>A (p.Glu709Lys) rs727504256 0.00001
NM_005228.5(EGFR):c.2170G>A (p.Gly724Ser) rs1051753269 0.00001
NM_005228.5(EGFR):c.2327G>A (p.Arg776His) rs483352806 0.00001
NM_005228.5(EGFR):c.2329C>T (p.Leu777=) rs397517117 0.00001
NM_005228.5(EGFR):c.2484G>A (p.Leu828=) rs727504312 0.00001
NM_005228.5(EGFR):c.2862C>T (p.Asp954=) rs397517138 0.00001
NM_005343.4(HRAS):c.112-10C>T rs727503092 0.00001
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) rs764622691 0.00001
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496 0.00001
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00001
NM_005343.4(HRAS):c.450+84C>A rs727504926 0.00001
NM_005343.4(HRAS):c.468C>T (p.Phe156=) rs770648642 0.00001
NM_005343.4(HRAS):c.482G>A (p.Arg161His) rs748729430 0.00001
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005379.4(MYO1A):c.1270-10C>T rs727503322 0.00001
NM_005379.4(MYO1A):c.522C>T (p.Leu174=) rs561295735 0.00001
NM_005422.4(TECTA):c.1129T>C (p.Trp377Arg) rs876658013 0.00001
NM_005422.4(TECTA):c.1572C>T (p.Cys524=) rs767426110 0.00001
NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr) rs727503457 0.00001
NM_005422.4(TECTA):c.1871C>T (p.Ala624Val) rs1248649998 0.00001
NM_005422.4(TECTA):c.2511G>A (p.Leu837=) rs201725913 0.00001
NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter) rs764424917 0.00001
NM_005422.4(TECTA):c.2739C>T (p.Gly913=) rs727503460 0.00001
NM_005422.4(TECTA):c.2752C>G (p.Pro918Ala) rs876658016 0.00001
NM_005422.4(TECTA):c.3440A>G (p.Asn1147Ser) rs1184726805 0.00001
NM_005422.4(TECTA):c.3619G>A (p.Val1207Met) rs746231346 0.00001
NM_005422.4(TECTA):c.3769G>A (p.Gly1257Ser) rs727504469 0.00001
NM_005422.4(TECTA):c.3857C>T (p.Pro1286Leu) rs770133038 0.00001
NM_005422.4(TECTA):c.3940T>C (p.Cys1314Arg) rs767018367 0.00001
NM_005422.4(TECTA):c.4047C>T (p.Ala1349=) rs768673774 0.00001
NM_005422.4(TECTA):c.4067G>A (p.Gly1356Glu) rs727503461 0.00001
NM_005422.4(TECTA):c.430G>A (p.Val144Ile) rs973063526 0.00001
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys) rs727503462 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys) rs1428598791 0.00001
NM_005422.4(TECTA):c.586G>A (p.Gly196Ser) rs751960882 0.00001
NM_005422.4(TECTA):c.6115C>T (p.His2039Tyr) rs727503465 0.00001
NM_005422.4(TECTA):c.6155G>A (p.Cys2052Tyr) rs727503467 0.00001
NM_005422.4(TECTA):c.6163-2A>T rs876657661 0.00001
NM_005422.4(TECTA):c.6303G>A (p.Arg2101=) rs727505252 0.00001
NM_005422.4(TECTA):c.706A>G (p.Thr236Ala) rs200752577 0.00001
NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser) rs780462719 0.00001
NM_005548.3(KARS1):c.1232C>T (p.Thr411Met) rs768044754 0.00001
NM_005548.3(KARS1):c.1677G>A (p.Thr559=) rs765014185 0.00001
NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser) rs397517151 0.00001
NM_005633.4(SOS1):c.1564A>C (p.Asn522His) rs761094509 0.00001
NM_005633.4(SOS1):c.2064-15G>T rs746484679 0.00001
NM_005633.4(SOS1):c.281T>C (p.Ile94Thr) rs397517161 0.00001
NM_005633.4(SOS1):c.2838G>A (p.Glu946=) rs397517162 0.00001
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=) rs142431345 0.00001
NM_005633.4(SOS1):c.3303T>C (p.Val1101=) rs397517165 0.00001
NM_005633.4(SOS1):c.350T>G (p.Val117Gly) rs201085754 0.00001
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130 0.00001
NM_005633.4(SOS1):c.3734G>T (p.Gly1245Val) rs397517169 0.00001
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211 0.00001
NM_005633.4(SOS1):c.552T>C (p.Asn184=) rs727503438 0.00001
NM_005633.4(SOS1):c.688T>G (p.Phe230Val) rs397517177 0.00001
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00001
NM_005633.4(SOS1):c.88-14C>G rs727504900 0.00001
NM_005857.5(ZMPSTE24):c.955-1G>A rs764861582 0.00001
NM_006005.3(WFS1):c.-4C>T rs746340627 0.00001
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn) rs772392224 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.1103G>A (p.Ser368Asn) rs397517194 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001
NM_006005.3(WFS1):c.1236C>T (p.Val412=) rs753290200 0.00001
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln) rs750806151 0.00001
NM_006005.3(WFS1):c.1335G>C (p.Leu445=) rs1426049330 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) rs201557396 0.00001
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) rs876658118 0.00001
NM_006005.3(WFS1):c.1837T>G (p.Trp613Gly) rs1730924133 0.00001
NM_006005.3(WFS1):c.2028C>T (p.Arg676=) rs201878061 0.00001
NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser) rs202195756 0.00001
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) rs876658119 0.00001
NM_006005.3(WFS1):c.2407G>A (p.Val803Met) rs745988826 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006005.3(WFS1):c.2532C>T (p.Ala844=) rs767155345 0.00001
NM_006005.3(WFS1):c.2555_2560dup (p.Gln853_Leu854insProGln) rs730880368 0.00001
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.816C>T (p.Asp272=) rs762774307 0.00001
NM_006005.3(WFS1):c.83A>G (p.Asn28Ser) rs397517198 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_006073.4(TRDN):c.17C>T (p.Ala6Val) rs764897557 0.00001
NM_006073.4(TRDN):c.232+15A>T rs769101414 0.00001
NM_006073.4(TRDN):c.990A>G (p.Lys330=) rs941068115 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006231.4(POLE):c.1051G>A (p.Val351Ile) rs759414746 0.00001
NM_006231.4(POLE):c.1107-3C>T rs369572563 0.00001
NM_006231.4(POLE):c.1280C>T (p.Ala427Val) rs878854841 0.00001
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
NM_006231.4(POLE):c.1744C>T (p.Leu582Phe) rs761273376 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala) rs1332965505 0.00001
NM_006231.4(POLE):c.3223A>T (p.Ser1075Cys) rs145680387 0.00001
NM_006231.4(POLE):c.4012G>A (p.Glu1338Lys) rs751555395 0.00001
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter) rs781481160 0.00001
NM_006231.4(POLE):c.5270G>T (p.Ser1757Ile) rs878854882 0.00001
NM_006231.4(POLE):c.5591T>C (p.Ile1864Thr) rs896266569 0.00001
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr) rs528752399 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.797G>T (p.Arg266Leu) rs115786159 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006284.4(TAF10):c.*1941C>T rs776123992 0.00001
NM_006383.4(CIB2):c.141G>A (p.Arg47=) rs199524336 0.00001
NM_006393.3(NEBL):c.1228-7C>T rs200231082 0.00001
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val) rs1237891829 0.00001
NM_006393.3(NEBL):c.1617del (p.Ser539fs) rs727504917 0.00001
NM_006393.3(NEBL):c.1904C>T (p.Ala635Val) rs727503335 0.00001
NM_006393.3(NEBL):c.2056-13T>G rs727504473 0.00001
NM_006393.3(NEBL):c.2547C>T (p.Gly849=) rs180850975 0.00001
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys) rs150152361 0.00001
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu) rs876657926 0.00001
NM_006393.3(NEBL):c.2820C>T (p.His940=) rs532565487 0.00001
NM_006393.3(NEBL):c.2913C>T (p.Asp971=) rs575423101 0.00001
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser) rs876657927 0.00001
NM_006767.4(LZTR1):c.2471T>C (p.Leu824Pro) rs752239353 0.00001
NM_006912.6(RIT1):c.-43-74G>A rs730881012 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_006941.4(SOX10):c.1353C>T (p.Ser451=) rs758935474 0.00001
NM_006941.4(SOX10):c.71C>A (p.Ser24Tyr) rs1339336077 0.00001
NM_006941.4(SOX10):c.849C>T (p.His283=) rs773196371 0.00001
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly) rs764530865 0.00001
NM_007078.3(LDB3):c.1017T>G (p.Ala339=) rs727504526 0.00001
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) rs777547764 0.00001
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) rs397517212 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1605C>T (p.Thr535=) rs727505207 0.00001
NM_007078.3(LDB3):c.1786G>A (p.Val596Ile) rs727503130 0.00001
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter) rs727503132 0.00001
NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln) rs747523570 0.00001
NM_007078.3(LDB3):c.2025C>T (p.Pro675=) rs876657490 0.00001
NM_007078.3(LDB3):c.2091C>T (p.Cys697=) rs571356142 0.00001
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr) rs727505129 0.00001
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser) rs397517222 0.00001
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter) rs727503123 0.00001
NM_007078.3(LDB3):c.690-4832C>T rs546887989 0.00001
NM_007078.3(LDB3):c.845C>T (p.Thr282Met) rs199811186 0.00001
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr) rs749520121 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.213-11T>G rs80358061 0.00001
NM_007294.4(BRCA1):c.302-2del rs273899695 0.00001
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) rs80357509 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989 0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007373.4(SHOC2):c.171C>T (p.Ser57=) rs1554857645 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012208.4(HARS2):c.1217G>A (p.Arg406Gln) rs752472621 0.00001
NM_012208.4(HARS2):c.1224A>G (p.Thr408=) rs755985809 0.00001
NM_012208.4(HARS2):c.503G>A (p.Arg168His) rs764476456 0.00001
NM_012208.4(HARS2):c.697C>T (p.Arg233Cys) rs749799529 0.00001
NM_012208.4(HARS2):c.733-5T>C rs749557934 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001
NM_013296.5(GPSM2):c.1021G>A (p.Ala341Thr) rs727505313 0.00001
NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly) rs765450533 0.00001
NM_013296.5(GPSM2):c.1063-1G>T rs773068151 0.00001
NM_013296.5(GPSM2):c.123C>T (p.Arg41=) rs753005800 0.00001
NM_013296.5(GPSM2):c.186C>T (p.Ser62=) rs199575734 0.00001
NM_013296.5(GPSM2):c.1872G>A (p.Pro624=) rs1209872502 0.00001
NM_013296.5(GPSM2):c.249A>G (p.Glu83=) rs727504553 0.00001
NM_013296.5(GPSM2):c.818G>A (p.Arg273Gln) rs77121685 0.00001
NM_014000.3(VCL):c.1543+15G>A rs759560099 0.00001
NM_014000.3(VCL):c.163G>T (p.Val55Phe) rs755441334 0.00001
NM_014000.3(VCL):c.1713del (p.Ala573fs) rs779488376 0.00001
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg) rs397517236 0.00001
NM_014000.3(VCL):c.2841C>T (p.Asp947=) rs566296495 0.00001
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg) rs368570586 0.00001
NM_014000.3(VCL):c.313C>T (p.Arg105Ter) rs397517239 0.00001
NM_014000.3(VCL):c.3226C>T (p.Arg1076Trp) rs397517241 0.00001
NM_014000.3(VCL):c.3327T>C (p.Ala1109=) rs397517242 0.00001
NM_014000.3(VCL):c.562C>T (p.Arg188Ter) rs397517244 0.00001
NM_014000.3(VCL):c.610G>C (p.Val204Leu) rs727504585 0.00001
NM_014000.3(VCL):c.854G>A (p.Arg285His) rs397517246 0.00001
NM_014000.3(VCL):c.874+13T>C rs777617736 0.00001
NM_014000.3(VCL):c.874+7C>G rs727503737 0.00001
NM_014000.3(VCL):c.952C>T (p.Arg318Cys) rs397517247 0.00001
NM_014332.3(SMPX):c.182A>G (p.Lys61Arg) rs201681071 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His) rs573892607 0.00001
NM_014391.3(ANKRD1):c.458A>T (p.Lys153Ile) rs727502889 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_014391.3(ANKRD1):c.805C>T (p.Arg269Ter) rs397517254 0.00001
NM_014476.6(PDLIM3):c.567G>A (p.Gln189=) rs776361335 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014739.3(BCLAF1):c.2096G>A (p.Arg699His) rs62431287 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786 0.00001
NM_015340.4(LARS2):c.1520C>G (p.Pro507Arg) rs1553635112 0.00001
NM_015340.4(LARS2):c.1840A>G (p.Arg614Gly) rs1447357435 0.00001
NM_015340.4(LARS2):c.2572C>A (p.Gln858Lys) rs777893707 0.00001
NM_015386.3(COG4):c.529C>T (p.Arg177Ter) rs376663459 0.00001
NM_015404.4(WHRN):c.1547C>T (p.Thr516Ile) rs756090687 0.00001
NM_015404.4(WHRN):c.1578T>C (p.Gly526=) rs111033438 0.00001
NM_015404.4(WHRN):c.1725G>A (p.Gly575=) rs1333495064 0.00001
NM_015404.4(WHRN):c.1833C>T (p.Ser611=) rs752505729 0.00001
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920 0.00001
NM_015404.4(WHRN):c.2284G>A (p.Glu762Lys) rs757731586 0.00001
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr) rs1444564272 0.00001
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096 0.00001
NM_015404.4(WHRN):c.725G>A (p.Arg242His) rs727505127 0.00001
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969 0.00001
NM_015909.4(NBAS):c.1987C>T (p.Gln663Ter) rs761330483 0.00001
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) rs1774516234 0.00001
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) rs553128312 0.00001
NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=) rs397517260 0.00001
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val) rs370257703 0.00001
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu) rs373477232 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1440T>C (p.Asn480=) rs397517265 0.00001
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337 0.00001
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter) rs397517267 0.00001
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn) rs369687307 0.00001
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu) rs397517271 0.00001
NM_016203.4(PRKAG2):c.42T>A (p.Val14=) rs141316327 0.00001
NM_016203.4(PRKAG2):c.466+7C>A rs397517272 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.685-7C>A rs397517278 0.00001
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln) rs397517281 0.00001
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=) rs201876556 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) rs1345580310 0.00001
NM_016239.4(MYO15A):c.1525G>A (p.Asp509Asn) rs1450338630 0.00001
NM_016239.4(MYO15A):c.3005C>A (p.Thr1002Asn) rs758747812 0.00001
NM_016239.4(MYO15A):c.3018C>A (p.Gly1006=) rs868037161 0.00001
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) rs192483691 0.00001
NM_016239.4(MYO15A):c.3867-4C>G rs1323926653 0.00001
NM_016239.4(MYO15A):c.4026G>A (p.Met1342Ile) rs370707928 0.00001
NM_016239.4(MYO15A):c.4207-3C>G rs771434501 0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 0.00001
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) rs749812958 0.00001
NM_016239.4(MYO15A):c.4462G>A (p.Val1488Ile) rs748323602 0.00001
NM_016239.4(MYO15A):c.4827C>T (p.Asn1609=) rs372121604 0.00001
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_016239.4(MYO15A):c.515T>C (p.Leu172Pro) rs1222532998 0.00001
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln) rs756752580 0.00001
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) rs765468034 0.00001
NM_016239.4(MYO15A):c.6170A>C (p.His2057Pro) rs876657902 0.00001
NM_016239.4(MYO15A):c.6292G>A (p.Asp2098Asn) rs727503311 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_016239.4(MYO15A):c.6486G>A (p.Pro2162=) rs1313329708 0.00001
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) rs727503312 0.00001
NM_016239.4(MYO15A):c.6612C>T (p.Arg2204=) rs752560714 0.00001
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=) rs558947304 0.00001
NM_016239.4(MYO15A):c.6691+6dup rs876657526 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln) rs1001523088 0.00001
NM_016239.4(MYO15A):c.700G>C (p.Glu234Gln) rs767935511 0.00001
NM_016239.4(MYO15A):c.7118-12C>T rs561546411 0.00001
NM_016239.4(MYO15A):c.7197G>A (p.Leu2399=) rs981596520 0.00001
NM_016239.4(MYO15A):c.7386C>T (p.Ala2462=) rs568637767 0.00001
NM_016239.4(MYO15A):c.7400G>A (p.Arg2467Gln) rs865982060 0.00001
NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg) rs756565842 0.00001
NM_016239.4(MYO15A):c.7685C>T (p.Ser2562Phe) rs876657904 0.00001
NM_016239.4(MYO15A):c.7758G>A (p.Pro2586=) rs566210647 0.00001
NM_016239.4(MYO15A):c.7893+14G>A rs727503317 0.00001
NM_016239.4(MYO15A):c.7893+1G>A rs727503316 0.00001
NM_016239.4(MYO15A):c.8115C>T (p.Ser2705=) rs1160269595 0.00001
NM_016239.4(MYO15A):c.8340+5G>A rs752773977 0.00001
NM_016239.4(MYO15A):c.8404A>G (p.Met2802Val) rs727503318 0.00001
NM_016239.4(MYO15A):c.869A>G (p.Tyr290Cys) rs766482387 0.00001
NM_016239.4(MYO15A):c.9180C>T (p.Ile3060=) rs968105343 0.00001
NM_016239.4(MYO15A):c.9517+12A>G rs727503320 0.00001
NM_016239.4(MYO15A):c.9880C>T (p.Arg3294Trp) rs377125285 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NM_016599.5(MYOZ2):c.190A>C (p.Arg64=) rs727505324 0.00001
NM_016599.5(MYOZ2):c.560+9A>G rs397517290 0.00001
NM_016599.5(MYOZ2):c.649C>A (p.Pro217Thr) rs751294999 0.00001
NM_016616.5(NME8):c.774C>T (p.Val258=) rs764505957 0.00001
NM_016929.5(CLIC5):c.192C>T (p.His64=) rs770346363 0.00001
NM_017433.5(MYO3A):c.1A>G (p.Met1Val) rs727504593 0.00001
NM_017433.5(MYO3A):c.2168A>G (p.Asn723Ser) rs771154512 0.00001
NM_017433.5(MYO3A):c.285G>T (p.Lys95Asn) rs1282051090 0.00001
NM_017433.5(MYO3A):c.288G>A (p.Leu96=) rs760525102 0.00001
NM_017433.5(MYO3A):c.3274+1G>T rs201538580 0.00001
NM_017433.5(MYO3A):c.4474C>A (p.Pro1492Thr) rs368473860 0.00001
NM_017433.5(MYO3A):c.4847C>T (p.Ser1616Phe) rs752615488 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017668.3(NDE1):c.948-5748G>A rs574893374 0.00001
NM_017780.4(CHD7):c.1566C>T (p.Gly522=) rs759347960 0.00001
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) rs778361949 0.00001
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser) rs548706525 0.00001
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys) rs776900495 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) rs185150226 0.00001
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) rs771141688 0.00001
NM_017950.4(CCDC40):c.1317+42G>A rs756283987 0.00001
NM_017950.4(CCDC40):c.940-2A>G rs750708201 0.00001
NM_018139.3(DNAAF2):c.1795G>A (p.Ala599Thr) rs756765143 0.00001
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr) rs761407249 0.00001
NM_019032.6(ADAMTSL4):c.1712C>A (p.Ser571Ter) rs754125407 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_020297.4(ABCC9):c.169C>T (p.Gln57Ter) rs727502876 0.00001
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=) rs727502873 0.00001
NM_020297.4(ABCC9):c.1933A>G (p.Lys645Glu) rs876657734 0.00001
NM_020297.4(ABCC9):c.1982G>A (p.Arg661His) rs397517185 0.00001
NM_020297.4(ABCC9):c.2081G>A (p.Arg694Gln) rs267603424 0.00001
NM_020297.4(ABCC9):c.2149G>A (p.Ala717Thr) rs397517187 0.00001
NM_020297.4(ABCC9):c.2199-6T>C rs535477725 0.00001
NM_020297.4(ABCC9):c.2425-13G>A rs397517188 0.00001
NM_020297.4(ABCC9):c.2547T>C (p.His849=) rs876657428 0.00001
NM_020297.4(ABCC9):c.289C>T (p.Arg97Trp) rs727502875 0.00001
NM_020297.4(ABCC9):c.324C>T (p.Ala108=) rs770552940 0.00001
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg) rs727505161 0.00001
NM_020297.4(ABCC9):c.406+14C>G rs752547896 0.00001
NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala) rs397517190 0.00001
NM_020297.4(ABCC9):c.4365G>A (p.Gln1455=) rs727504785 0.00001
NM_020297.4(ABCC9):c.4512+787A>G rs372859669 0.00001
NM_020297.4(ABCC9):c.47A>G (p.Asn16Ser) rs727502877 0.00001
NM_020433.5(JPH2):c.363G>A (p.Glu121=) rs753073876 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.2547C>T (p.Gly849=) rs770674650 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_020975.6(RET):c.3148C>G (p.Arg1050Gly) rs767479170 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.544C>A (p.Pro182Thr) rs775086466 0.00001
NM_020975.6(RET):c.937C>T (p.Arg313Trp) rs1057521089 0.00001
NM_021116.4(ADCY1):c.1200C>T (p.His400=) rs369432043 0.00001
NM_021167.5(GATAD1):c.468T>C (p.Ser156=) rs781323574 0.00001
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro) rs745685973 0.00001
NM_021957.4(GYS2):c.1081del (p.Thr361fs) rs771205749 0.00001
NM_022114.4(PRDM16):c.1877A>T (p.Asp626Val) rs876657958 0.00001
NM_022114.4(PRDM16):c.1977G>A (p.Pro659=) rs759550479 0.00001
NM_022114.4(PRDM16):c.2060G>C (p.Gly687Ala) rs876657959 0.00001
NM_022114.4(PRDM16):c.2106G>A (p.Lys702=) rs776564044 0.00001
NM_022114.4(PRDM16):c.2434C>T (p.Arg812Cys) rs876657960 0.00001
NM_022114.4(PRDM16):c.657A>C (p.Thr219=) rs777464880 0.00001
NM_022114.4(PRDM16):c.666C>T (p.Pro222=) rs876657565 0.00001
NM_022114.4(PRDM16):c.867G>A (p.Met289Ile) rs375991356 0.00001
NM_022124.6(CDH23):c.10027G>A (p.Val3343Met) rs756425157 0.00001
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu) rs368597074 0.00001
NM_022124.6(CDH23):c.1135-7T>C rs397517303 0.00001
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_022124.6(CDH23):c.1411G>A (p.Glu471Lys) rs778511495 0.00001
NM_022124.6(CDH23):c.1428G>T (p.Gly476=) rs397517306 0.00001
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu) rs397517308 0.00001
NM_022124.6(CDH23):c.1583G>A (p.Arg528His) rs761468283 0.00001
NM_022124.6(CDH23):c.1660G>A (p.Val554Ile) rs727504910 0.00001
NM_022124.6(CDH23):c.1678A>G (p.Thr560Ala) rs767986806 0.00001
NM_022124.6(CDH23):c.1695C>G (p.Ala565=) rs372380590 0.00001
NM_022124.6(CDH23):c.1859T>C (p.Val620Ala) rs775889210 0.00001
NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser) rs1304555485 0.00001
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp) rs528779319 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.2836G>A (p.Val946Met) rs931850625 0.00001
NM_022124.6(CDH23):c.2840T>A (p.Val947Glu) rs397517318 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.3151G>A (p.Val1051Ile) rs876657439 0.00001
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr) rs369002480 0.00001
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln) rs397517322 0.00001
NM_022124.6(CDH23):c.3408T>A (p.Arg1136=) rs1223980355 0.00001
NM_022124.6(CDH23):c.3438T>C (p.His1146=) rs775496154 0.00001
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln) rs727502925 0.00001
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys) rs111033468 0.00001
NM_022124.6(CDH23):c.4104+44C>T rs1483809141 0.00001
NM_022124.6(CDH23):c.4128G>C (p.Leu1376=) rs773827025 0.00001
NM_022124.6(CDH23):c.4207-8G>T rs748187466 0.00001
NM_022124.6(CDH23):c.4359G>C (p.Gln1453His) rs1435336806 0.00001
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=) rs554295504 0.00001
NM_022124.6(CDH23):c.4617+8C>A rs377526599 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.4694A>C (p.Tyr1565Ser) rs727504606 0.00001
NM_022124.6(CDH23):c.4730G>A (p.Arg1577His) rs771464282 0.00001
NM_022124.6(CDH23):c.4746C>T (p.Ser1582=) rs370132610 0.00001
NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala) rs762005355 0.00001
NM_022124.6(CDH23):c.5353G>A (p.Asp1785Asn) rs397517338 0.00001
NM_022124.6(CDH23):c.5499C>T (p.Ser1833=) rs397517339 0.00001
NM_022124.6(CDH23):c.552C>T (p.Arg184=) rs768251221 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.5924-6G>T rs727505190 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.618C>T (p.Asn206=) rs397517348 0.00001
NM_022124.6(CDH23):c.6196C>T (p.Arg2066Trp) rs111033489 0.00001
NM_022124.6(CDH23):c.6264C>A (p.Val2088=) rs727504898 0.00001
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg) rs727504894 0.00001
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=) rs373462599 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys) rs761082272 0.00001
NM_022124.6(CDH23):c.6795C>T (p.Ser2265=) rs751113848 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.7055-15G>A rs371872394 0.00001
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg) rs181197242 0.00001
NM_022124.6(CDH23):c.7176C>T (p.Ile2392=) rs375991880 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932 0.00001
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu) rs538435711 0.00001
NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter) rs397517353 0.00001
NM_022124.6(CDH23):c.8065-9C>T rs397517355 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val) rs766924822 0.00001
NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn) rs397517361 0.00001
NM_022124.6(CDH23):c.8G>A (p.Arg3His) rs397517363 0.00001
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364 0.00001
NM_022124.6(CDH23):c.9024A>G (p.Glu3008=) rs727505162 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022124.6(CDH23):c.9177G>A (p.Pro3059=) rs371609236 0.00001
NM_022124.6(CDH23):c.9264G>C (p.Trp3088Cys) rs876657759 0.00001
NM_022124.6(CDH23):c.9278+15C>T rs727504751 0.00001
NM_022124.6(CDH23):c.9503G>A (p.Arg3168His) rs754557923 0.00001
NM_022124.6(CDH23):c.9738+6C>T rs727504562 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_022336.4(EDAR):c.529+1G>A rs1553445945 0.00001
NM_022725.4(FANCF):c.690del (p.Gly231fs) rs747622521 0.00001
NM_024009.3(GJB3):c.64C>T (p.Arg22Cys) rs145247495 0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224 0.00001
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His) rs727505249 0.00001
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr) rs397517385 0.00001
NM_024334.3(TMEM43):c.763C>T (p.Leu255=) rs761968722 0.00001
NM_024334.3(TMEM43):c.883-15C>A rs727504984 0.00001
NM_024334.3(TMEM43):c.961A>G (p.Met321Val) rs397517387 0.00001
NM_024422.6(DSC2):c.-302C>T rs727504919 0.00001
NM_024422.6(DSC2):c.1077+11G>T rs727504868 0.00001
NM_024422.6(DSC2):c.1521-5A>G rs397517392 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn) rs397517397 0.00001
NM_024422.6(DSC2):c.2357T>C (p.Met786Thr) rs397517398 0.00001
NM_024422.6(DSC2):c.2446G>A (p.Val816Met) rs377700521 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu) rs727504906 0.00001
NM_024422.6(DSC2):c.267G>A (p.Ser89=) rs201363937 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024422.6(DSC2):c.893A>T (p.His298Leu) rs397517407 0.00001
NM_024426.6(WT1):c.977G>C (p.Gly326Ala) rs766054482 0.00001
NM_024915.4(GRHL2):c.373T>G (p.Ser125Ala) rs145518215 0.00001
NM_024915.4(GRHL2):c.432C>T (p.Pro144=) rs756526962 0.00001
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr) rs567437692 0.00001
NM_030662.4(MAP2K2):c.1061C>T (p.Pro354Leu) rs879819202 0.00001
NM_030662.4(MAP2K2):c.1064C>T (p.Ala355Val) rs768826287 0.00001
NM_030662.4(MAP2K2):c.384G>A (p.Pro128=) rs727503156 0.00001
NM_030662.4(MAP2K2):c.621G>A (p.Glu207=) rs397517416 0.00001
NM_030662.4(MAP2K2):c.639C>T (p.Phe213=) rs727504818 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_031475.3(ESPN):c.2026A>G (p.Thr676Ala) rs727504842 0.00001
NM_031475.3(ESPN):c.2120C>T (p.Pro707Leu) rs576917953 0.00001
NM_031475.3(ESPN):c.2552T>G (p.Ile851Ser) rs752357040 0.00001
NM_031475.3(ESPN):c.882C>T (p.Asn294=) rs1023507079 0.00001
NM_031475.3(ESPN):c.931C>A (p.Leu311Met) rs766939513 0.00001
NM_032119.4(ADGRV1):c.-26_-9del rs773996398 0.00001
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val) rs727503078 0.00001
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu) rs780372483 0.00001
NM_032119.4(ADGRV1):c.11411G>A (p.Arg3804Gln) rs876657817 0.00001
NM_032119.4(ADGRV1):c.11999C>T (p.Thr4000Met) rs758506587 0.00001
NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys) rs876657647 0.00001
NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp) rs534226753 0.00001
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=) rs727503080 0.00001
NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala) rs746448681 0.00001
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) rs727504777 0.00001
NM_032119.4(ADGRV1):c.12637G>A (p.Glu4213Lys) rs397517421 0.00001
NM_032119.4(ADGRV1):c.13579A>G (p.Ile4527Val) rs777190245 0.00001
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300 0.00001
NM_032119.4(ADGRV1):c.14022G>A (p.Lys4674=) rs1554117199 0.00001
NM_032119.4(ADGRV1):c.14185G>A (p.Asp4729Asn) rs778820230 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032119.4(ADGRV1):c.1464G>A (p.Leu488=) rs397517422 0.00001
NM_032119.4(ADGRV1):c.1466C>T (p.Pro489Leu) rs371781264 0.00001
NM_032119.4(ADGRV1):c.15076C>T (p.His5026Tyr) rs397517423 0.00001
NM_032119.4(ADGRV1):c.1509+11T>C rs397517424 0.00001
NM_032119.4(ADGRV1):c.15300G>A (p.Arg5100=) rs774978203 0.00001
NM_032119.4(ADGRV1):c.16165T>C (p.Leu5389=) rs1451740883 0.00001
NM_032119.4(ADGRV1):c.16190C>T (p.Pro5397Leu) rs998194428 0.00001
NM_032119.4(ADGRV1):c.16321A>G (p.Met5441Val) rs1265127867 0.00001
NM_032119.4(ADGRV1):c.17192C>G (p.Ser5731Cys) rs727503086 0.00001
NM_032119.4(ADGRV1):c.17204+7A>G rs569253795 0.00001
NM_032119.4(ADGRV1):c.17454+10C>T rs778501967 0.00001
NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile) rs727504913 0.00001
NM_032119.4(ADGRV1):c.17594+8T>C rs772433066 0.00001
NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr) rs560274484 0.00001
NM_032119.4(ADGRV1):c.17857-11G>A rs918520562 0.00001
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser) rs876657823 0.00001
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=) rs766197164 0.00001
NM_032119.4(ADGRV1):c.18125A>G (p.Gln6042Arg) rs764963960 0.00001
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=) rs181146384 0.00001
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His) rs757860505 0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln) rs766225545 0.00001
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=) rs369910075 0.00001
NM_032119.4(ADGRV1):c.305A>G (p.Asp102Gly) rs876657824 0.00001
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys) rs876657822 0.00001
NM_032119.4(ADGRV1):c.3704A>G (p.Asn1235Ser) rs746622083 0.00001
NM_032119.4(ADGRV1):c.3943C>A (p.Gln1315Lys) rs764685377 0.00001
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=) rs111033484 0.00001
NM_032119.4(ADGRV1):c.4149C>T (p.Tyr1383=) rs138929990 0.00001
NM_032119.4(ADGRV1):c.4373C>G (p.Thr1458Ser) rs562424836 0.00001
NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala) rs775471701 0.00001
NM_032119.4(ADGRV1):c.5110+13T>C rs397517431 0.00001
NM_032119.4(ADGRV1):c.5469A>G (p.Gly1823=) rs766924889 0.00001
NM_032119.4(ADGRV1):c.5524+15C>T rs397517432 0.00001
NM_032119.4(ADGRV1):c.6275-9G>T rs1206365367 0.00001
NM_032119.4(ADGRV1):c.6552C>T (p.Ala2184=) rs763086961 0.00001
NM_032119.4(ADGRV1):c.670G>A (p.Glu224Lys) rs727504958 0.00001
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp) rs397517434 0.00001
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) rs758718347 0.00001
NM_032119.4(ADGRV1):c.7748A>G (p.Tyr2583Cys) rs778879752 0.00001
NM_032119.4(ADGRV1):c.838A>T (p.Ile280Leu) rs772896545 0.00001
NM_032119.4(ADGRV1):c.8521A>G (p.Asn2841Asp) rs727504560 0.00001
NM_032119.4(ADGRV1):c.8870G>A (p.Gly2957Glu) rs762211616 0.00001
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=) rs397517442 0.00001
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val) rs759038879 0.00001
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu) rs766790920 0.00001
NM_032119.4(ADGRV1):c.9477G>A (p.Thr3159=) rs777032531 0.00001
NM_032229.3(SLITRK6):c.1555T>C (p.Trp519Arg) rs1200848224 0.00001
NM_032229.3(SLITRK6):c.1754C>T (p.Thr585Ile) rs1229145139 0.00001
NM_032229.3(SLITRK6):c.82A>G (p.Arg28Gly) rs1019837602 0.00001
NM_032578.4(MYPN):c.1188A>G (p.Pro396=) rs371437119 0.00001
NM_032578.4(MYPN):c.1225C>T (p.Arg409Cys) rs757431496 0.00001
NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro) rs876657921 0.00001
NM_032578.4(MYPN):c.2466G>A (p.Arg822=) rs1298116965 0.00001
NM_032578.4(MYPN):c.3156C>T (p.His1052=) rs876657923 0.00001
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro) rs529359915 0.00001
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala) rs751863041 0.00001
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=) rs727503362 0.00001
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu) rs1268531021 0.00001
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser) rs775203432 0.00001
NM_033118.4(MYLK2):c.1112T>C (p.Ile371Thr) rs727505336 0.00001
NM_033118.4(MYLK2):c.21A>G (p.Ala7=) rs754853086 0.00001
NM_033118.4(MYLK2):c.353C>T (p.Ser118Leu) rs727503304 0.00001
NM_033118.4(MYLK2):c.393G>A (p.Lys131=) rs397517474 0.00001
NM_033118.4(MYLK2):c.972+13C>T rs876657524 0.00001
NM_033337.3(CAV3):c.6_7del (p.Met2fs) rs1060502318 0.00001
NM_033343.4(LHX4):c.452-2A>C rs786204780 0.00001
NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile) rs1350078739 0.00001
NM_033409.4(SLC52A3):c.*12A>G rs547810606 0.00001
NM_033409.4(SLC52A3):c.1009G>A (p.Ala337Thr) rs139542858 0.00001
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) rs778479139 0.00001
NM_033409.4(SLC52A3):c.927C>T (p.Phe309=) rs781422986 0.00001
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile) rs1027231153 0.00001
NM_057176.3(BSND):c.183C>T (p.Thr61=) rs377452238 0.00001
NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter) rs1239366051 0.00001
NM_080680.3(COL11A2):c.1005T>A (p.Gly335=) rs1288780147 0.00001
NM_080680.3(COL11A2):c.1694G>A (p.Gly565Glu) rs781378391 0.00001
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln) rs528989984 0.00001
NM_080680.3(COL11A2):c.2693G>A (p.Gly898Glu) rs727502941 0.00001
NM_080680.3(COL11A2):c.2808C>T (p.Thr936=) rs775487504 0.00001
NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser) rs764935691 0.00001
NM_080680.3(COL11A2):c.3531A>C (p.Gly1177=) rs530771165 0.00001
NM_080680.3(COL11A2):c.3799-9C>G rs762361602 0.00001
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln) rs727504832 0.00001
NM_080680.3(COL11A2):c.3945G>A (p.Gly1315=) rs1321962760 0.00001
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys) rs727504543 0.00001
NM_080680.3(COL11A2):c.4797C>T (p.Phe1599=) rs1455846667 0.00001
NM_080680.3(COL11A2):c.4924C>G (p.Leu1642Val) rs770715075 0.00001
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) rs781633250 0.00001
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) rs142893093 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00001
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062 0.00001
NM_133261.3(GIPC3):c.192G>A (p.Lys64=) rs876657466 0.00001
NM_133261.3(GIPC3):c.271C>T (p.Leu91Phe) rs1599862314 0.00001
NM_133261.3(GIPC3):c.298G>A (p.Asp100Asn) rs727503063 0.00001
NM_133261.3(GIPC3):c.315C>T (p.His105=) rs876657468 0.00001
NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr) rs904746365 0.00001
NM_133261.3(GIPC3):c.674G>A (p.Arg225His) rs727503064 0.00001
NM_133261.3(GIPC3):c.75G>T (p.Ser25=) rs1321208549 0.00001
NM_133261.3(GIPC3):c.788-5C>T rs528822982 0.00001
NM_133379.5(TTN):c.10633C>T (p.Pro3545Ser) rs373311410 0.00001
NM_133379.5(TTN):c.10684T>G (p.Ser3562Ala) rs727503673 0.00001
NM_133379.5(TTN):c.10880G>C (p.Gly3627Ala) rs727503674 0.00001
NM_133379.5(TTN):c.11064T>C (p.Asn3688=) rs727503672 0.00001
NM_133379.5(TTN):c.11066del (p.Val3689fs) rs727503671 0.00001
NM_133379.5(TTN):c.11168C>T (p.Thr3723Met) rs397517803 0.00001
NM_133379.5(TTN):c.11512C>T (p.Gln3838Ter) rs756000739 0.00001
NM_133379.5(TTN):c.11956C>T (p.Arg3986Cys) rs200935937 0.00001
NM_133379.5(TTN):c.12484C>T (p.Gln4162Ter) rs727504521 0.00001
NM_133379.5(TTN):c.12653T>C (p.Ile4218Thr) rs397517805 0.00001
NM_133379.5(TTN):c.13013A>G (p.His4338Arg) rs140583865 0.00001
NM_133379.5(TTN):c.13210A>G (p.Arg4404Gly) rs397517807 0.00001
NM_133379.5(TTN):c.14552T>C (p.Ile4851Thr) rs143310631 0.00001
NM_133379.5(TTN):c.14902G>A (p.Asp4968Asn) rs371444691 0.00001
NM_133379.5(TTN):c.15169G>T (p.Glu5057Ter) rs727503665 0.00001
NM_133379.5(TTN):c.15338C>T (p.Ala5113Val) rs397517816 0.00001
NM_133379.5(TTN):c.15487C>T (p.Arg5163Cys) rs727504760 0.00001
NM_133379.5(TTN):c.15653G>A (p.Arg5218Gln) rs727505032 0.00001
NM_133379.5(TTN):c.15961G>A (p.Val5321Ile) rs397517817 0.00001
NM_133379.5(TTN):c.16353C>G (p.Tyr5451Ter) rs397517821 0.00001
NM_138691.3(TMC1):c.1071C>T (p.Asn357=) rs1489881026 0.00001
NM_138691.3(TMC1):c.1189G>A (p.Asp397Asn) rs185702148 0.00001
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) rs184603559 0.00001
NM_138691.3(TMC1):c.2044G>C (p.Glu682Gln) rs199819595 0.00001
NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr) rs397517838 0.00001
NM_138691.3(TMC1):c.543T>G (p.Phe181Leu) rs989635871 0.00001
NM_138691.3(TMC1):c.637C>T (p.Pro213Ser) rs745569653 0.00001
NM_138691.3(TMC1):c.684C>T (p.Thr228=) rs890529621 0.00001
NM_138691.3(TMC1):c.884+2dup rs876658020 0.00001
NM_139276.3(STAT3):c.1366-11T>C rs761523186 0.00001
NM_139319.3(SLC17A8):c.705G>A (p.Met235Ile) rs144556614 0.00001
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly) rs768693715 0.00001
NM_144573.4(NEXN):c.1366G>A (p.Gly456Arg) rs397517844 0.00001
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly) rs539665448 0.00001
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu) rs727504758 0.00001
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs) rs779350415 0.00001
NM_144573.4(NEXN):c.1704C>T (p.Gly568=) rs397517850 0.00001
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg) rs876657929 0.00001
NM_144573.4(NEXN):c.237T>C (p.Ala79=) rs727504549 0.00001
NM_144573.4(NEXN):c.298+10T>C rs397517854 0.00001
NM_144573.4(NEXN):c.299-3T>C rs397517856 0.00001
NM_144573.4(NEXN):c.341_342del (p.Gln114fs) rs397517857 0.00001
NM_144612.3(LOXHD1):c.3328G>T (p.Ala1110Ser) rs727504587 0.00001
NM_144672.4(OTOA):c.1292T>C (p.Leu431Ser) rs1332276288 0.00001
NM_144672.4(OTOA):c.1880+1G>A rs148690740 0.00001
NM_144672.4(OTOA):c.2305C>T (p.Pro769Ser) rs769182891 0.00001
NM_144672.4(OTOA):c.401A>G (p.Asp134Gly) rs753359371 0.00001
NM_144991.3(TSPEAR):c.1786G>A (p.Glu596Lys) rs782790512 0.00001
NM_144991.3(TSPEAR):c.306G>A (p.Arg102=) rs782275376 0.00001
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter) rs782471965 0.00001
NM_144991.3(TSPEAR):c.81A>C (p.Thr27=) rs149709159 0.00001
NM_147196.3(TMIE):c.419A>G (p.Lys140Arg) rs201397940 0.00001
NM_152594.3(SPRED1):c.27C>T (p.Asp9=) rs727504717 0.00001
NM_152701.5(ABCA13):c.11920C>T (p.Arg3974Ter) rs544438554 0.00001
NM_152732.5(RSPH9):c.702T>C (p.Asn234=) rs757687268 0.00001
NM_153676.4(USH1C):c.1211-1107C>T rs727504667 0.00001
NM_153676.4(USH1C):c.1476G>T (p.Arg492Ser) rs765918184 0.00001
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp) rs868001349 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.1531-11A>G rs397517872 0.00001
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529 0.00001
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187 0.00001
NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu) rs1157049229 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023 0.00001
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser) rs727505083 0.00001
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153676.4(USH1C):c.2568A>G (p.Val856=) rs1385487954 0.00001
NM_153676.4(USH1C):c.2577C>A (p.Ser859Arg) rs199827989 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_153676.4(USH1C):c.497-3C>A rs958295779 0.00001
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882 0.00001
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934 0.00001
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.3404T>G (p.Leu1135Arg) rs876658009 0.00001
NM_153700.2(STRC):c.4279A>G (p.Ser1427Gly) rs760961629 0.00001
NM_153700.2(STRC):c.436G>A (p.Gly146Arg) rs757152351 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_153700.2(STRC):c.4581G>A (p.Gln1527=) rs1331991004 0.00001
NM_153700.2(STRC):c.4844+15G>A rs749407115 0.00001
NM_153700.2(STRC):c.4904T>C (p.Val1635Ala) rs1370498166 0.00001
NM_170682.4(P2RX2):c.1090C>G (p.Leu364Val) rs749812549 0.00001
NM_170682.4(P2RX2):c.1413C>T (p.Leu471=) rs568364905 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1773C>T (p.Cys591=) rs397517897 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.356+1G>C rs794728589 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.640-11A>C rs727504932 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170707.4(LMNA):c.954G>A (p.Ala318=) rs397517914 0.00001
NM_173477.5(USH1G):c.1179G>T (p.Glu393Asp) rs146287064 0.00001
NM_173477.5(USH1G):c.1217C>G (p.Ala406Gly) rs1282068985 0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NM_173477.5(USH1G):c.43G>C (p.Glu15Gln) rs757653096 0.00001
NM_173477.5(USH1G):c.481A>C (p.Met161Leu) rs1167902295 0.00001
NM_173477.5(USH1G):c.734C>T (p.Ser245Leu) rs397517928 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_174878.3(CLRN1):c.39C>T (p.Ala13=) rs1056326402 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.2004C>A (p.Ser668Arg) rs762298323 0.00001
NM_178335.3(CCDC50):c.136G>A (p.Val46Ile) rs762006742 0.00001
NM_178335.3(CCDC50):c.226C>T (p.Arg76Cys) rs575240044 0.00001
NM_178335.3(CCDC50):c.804G>A (p.Gln268=) rs876657435 0.00001
NM_178335.3(CCDC50):c.821G>A (p.Arg274Gln) rs199527848 0.00001
NM_178335.3(CCDC50):c.923C>G (p.Pro308Arg) rs1064796789 0.00001
NM_178857.6(RP1L1):c.5247C>G (p.Ser1749Arg) rs778715898 0.00001
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_182548.4(LHFPL5):c.176C>A (p.Ala59Glu) rs876657848 0.00001
NM_182548.4(LHFPL5):c.638C>A (p.Ala213Glu) rs555379908 0.00001
NM_182746.3(MCM4):c.832+2T>C rs1408879284 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_194248.3(OTOF):c.*204G>A rs775320200 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.1614C>A (p.Asn538Lys) rs111033350 0.00001
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu) rs551919295 0.00001
NM_194248.3(OTOF):c.224A>G (p.Asn75Ser) rs775875524 0.00001
NM_194248.3(OTOF):c.227+12A>G rs397517938 0.00001
NM_194248.3(OTOF):c.2406+9G>A rs397517939 0.00001
NM_194248.3(OTOF):c.251T>C (p.Val84Ala) rs727505096 0.00001
NM_194248.3(OTOF):c.2524-14C>T rs727503357 0.00001
NM_194248.3(OTOF):c.2676+10G>C rs727503356 0.00001
NM_194248.3(OTOF):c.2972A>G (p.Asn991Ser) rs397517940 0.00001
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941 0.00001
NM_194248.3(OTOF):c.3156C>T (p.Phe1052=) rs397517942 0.00001
NM_194248.3(OTOF):c.3276C>T (p.Phe1092=) rs776668692 0.00001
NM_194248.3(OTOF):c.3290T>C (p.Ile1097Thr) rs764162969 0.00001
NM_194248.3(OTOF):c.3316C>A (p.Pro1106Thr) rs727505141 0.00001
NM_194248.3(OTOF):c.3408+5G>A rs760279912 0.00001
NM_194248.3(OTOF):c.3571-6C>A rs397517944 0.00001
NM_194248.3(OTOF):c.3731C>T (p.Thr1244Met) rs368293095 0.00001
NM_194248.3(OTOF):c.3864+1G>A rs758918226 0.00001
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350 0.00001
NM_194248.3(OTOF):c.4023+7C>T rs370239223 0.00001
NM_194248.3(OTOF):c.4128G>T (p.Arg1376Ser) rs764461086 0.00001
NM_194248.3(OTOF):c.4213A>G (p.Ile1405Val) rs201123430 0.00001
NM_194248.3(OTOF):c.4227+5G>C rs571671530 0.00001
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=) rs905144471 0.00001
NM_194248.3(OTOF):c.4681G>A (p.Val1561Met) rs763032357 0.00001
NM_194248.3(OTOF):c.4734C>T (p.Ile1578=) rs748951588 0.00001
NM_194248.3(OTOF):c.5103+7C>T rs397517948 0.00001
NM_194248.3(OTOF):c.523G>A (p.Val175Met) rs765791956 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194248.3(OTOF):c.5712+6C>G rs200435099 0.00001
NM_194248.3(OTOF):c.5882C>T (p.Thr1961Met) rs779578562 0.00001
NM_194248.3(OTOF):c.80G>A (p.Gly27Glu) rs778056468 0.00001
NM_198253.3(TERT):c.1604G>A (p.Arg535His) rs768398955 0.00001
NM_198253.3(TERT):c.2225G>A (p.Arg742His) rs727503468 0.00001
NM_198253.3(TERT):c.3032+7C>T rs371500615 0.00001
NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter) rs797045093 0.00001
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728 0.00001
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys) rs1060499847 0.00001
NM_203447.4(DOCK8):c.3487C>T (p.Leu1163Phe) rs577097803 0.00001
NM_205850.3(SLC24A5):c.1078+1G>A rs1450652793 0.00001
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970 0.00001
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971 0.00001
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys) rs111033395 0.00001
NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro) rs1571639421 0.00001
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202 0.00001
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) rs727504582 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.12633T>G (p.Ile4211Met) rs727503716 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 0.00001
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val) rs727505097 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=) rs187707339 0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139 0.00001
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro) rs143032902 0.00001
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=) rs397517986 0.00001
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607 0.00001
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln) rs1220949681 0.00001
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met) rs727504686 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995 0.00001
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423 0.00001
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996 0.00001
NM_206933.4(USH2A):c.15102C>T (p.Ser5034=) rs147916810 0.00001
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) rs762610249 0.00001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.1942A>G (p.Thr648Ala) rs1239032275 0.00001
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) rs397518005 0.00001
NM_206933.4(USH2A):c.2167+4C>T rs200638562 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) rs876658114 0.00001
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter) rs727503736 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_206933.4(USH2A):c.3351A>G (p.Pro1117=) rs946318077 0.00001
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734 0.00001
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801 0.00001
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys) rs876657627 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455 0.00001
NM_206933.4(USH2A):c.4559T>A (p.Ile1520Asn) rs727503730 0.00001
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) rs397518017 0.00001
NM_206933.4(USH2A):c.553A>G (p.Met185Val) rs770266757 0.00001
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.5776+7T>G rs397518020 0.00001
NM_206933.4(USH2A):c.5858-12A>G rs727503727 0.00001
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp) rs397518024 0.00001
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386 0.00001
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724 0.00001
NM_206933.4(USH2A):c.652-9T>G rs1231791432 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) rs397518028 0.00001
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301 0.00001
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115 0.00001
NM_206933.4(USH2A):c.7591G>A (p.Asp2531Asn) rs372989431 0.00001
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg) rs397518032 0.00001
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile) rs778655083 0.00001
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034 0.00001
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274 0.00001
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.897A>G (p.Gln299=) rs201062965 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535 0.00001
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456 0.00001
NM_206933.4(USH2A):c.9259-14A>C rs561590242 0.00001
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) rs397518046 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_206933.4(USH2A):c.9956C>T (p.Pro3319Leu) rs761386458 0.00001
NM_207034.3(EDN3):c.585G>C (p.Gly195=) rs760582150 0.00001
FH Aarhus
NC_000001.10:g.(?_216011333)_(216040512_?)del
NC_000001.10:g.(?_216260061)_(216270555_?)del
NC_000001.10:g.(?_3313055)_(3313157_?)del
NC_000002.12:g.(?_222201051)_(222295679_?)del
NC_000005.10:g.(?_90614729)_(90784051_?)del
NC_000006.11:g.(?_7585983)_(7586222_?)dup
NC_000006.12:g.(?_133506020)_(133528840_?)del
NC_000006.12:g.(?_35805660)_(35819505_?)dup
NC_000009.12:g.(?_114402754)_(114504801_?)dup
NC_000009.12:g.(?_72648590)_(72648670_?)del
NC_000010.11:g.(?_71645831)_(71646617_?)del
NC_000011.9:g.(?_532631)_(534375_?)dup
NC_000012.11:g.80632665_80732812del
NC_000012.12:g.121626879_121626884delACCGCC
NC_000015.10:g.(?_43638998)_(43639062_?)del
NC_000015.10:g.(?_43638998)_(43639062_?)dup
NC_000015.9:g.(?_43891870)_(43897597_?)dup
NC_000015.9:g.(?_43892732)_(43893212_?)dup
NC_000015.9:g.(?_43892732)_(43901532_?)dup
NC_000015.9:g.(?_43893070)_(43903182_?)dup
NC_000015.9:g.(?_43900061)_(43901532_?)dup
NC_000019.9:g.(?_11230768)_(11240346_?)dup
NC_000022.11:g.(?_37738534)_(37741122_?)del
NC_000023.10:g.(?_153640181)_(153641904_?)del
NC_000023.11:g.(?_101346475)_(101348757_?)del
NC_012920.1(MT-CYB):m.1008A>G rs727504505
NC_012920.1(MT-CYB):m.1027A>G rs727504555
NC_012920.1(MT-CYB):m.1040T>C rs727503163
NC_012920.1(MT-CYB):m.1041A>G rs58327546
NC_012920.1(MT-CYB):m.1047A>G rs1556422506
NC_012920.1(MT-CYB):m.1106C>T rs1603218523
NC_012920.1(MT-CYB):m.1117A>G rs2068677687
NC_012920.1(MT-CYB):m.1120C>T rs727505171
NC_012920.1(MT-CYB):m.1183T>C rs1556422511
NC_012920.1(MT-CYB):m.1284T>C rs1556422516
NC_012920.1(MT-CYB):m.1290C>T rs1556422517
NC_012920.1(MT-CYB):m.1299A>G rs1556422518
NC_012920.1(MT-CYB):m.1303G>A rs879036775
NC_012920.1(MT-CYB):m.1438= rs2001030
NC_012920.1(MT-CYB):m.953T>C rs1556422495
NC_012920.1(MT-CYB):m.954C>T rs1556422496
NC_012920.1(MT-CYB):m.961_962del rs1556422498
NC_012920.1(MT-CYB):m.962C>T rs1556422500
NC_012920.1(MT-CYB):m.979C>T rs876657507
NC_012920.1(MT-CYB):m.990T>C rs727503165
NC_012920.1(MT-ND1):m.1313A>G rs1603218542
NC_012920.1(MT-ND1):m.1377C>A rs1603218549
NC_012920.1:m.1341C>T rs1556422519
NC_012920.1:m.1375C>T rs727504803
NC_012920.1:m.1415G>A rs876657505
NC_012920.1:m.1461A>G rs1556422534
NC_012920.1:m.1473C>T rs1556422538
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1503G>A rs727503164
NC_012920.1:m.1508C>T rs386828884
NC_012920.1:m.1536A>G rs876657506
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.7471dup rs111033319
NC_012920.1:m.7472A>T rs1556423293
NC_012920.1:m.7502C>T rs876657868
NM_000014.6(A2M):c.2126-6_2126-2del rs1799759
NM_000020.3(ACVRL1):c.1478del (p.Ser493fs) rs1060499838
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000038.4(APC):c.(?_1)_(8477_?)del
NM_000038.6(APC):c.1409-2A>G rs1064794163
NM_000038.6(APC):c.1462C>T (p.Leu488Phe) rs587779782
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.2383C>G (p.Leu795Val) rs1442780982
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2819C>G (p.Ser940Trp) rs544709767
NM_000038.6(APC):c.3162del (p.His1054fs) rs397515733
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser) rs372855304
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4255del (p.Ser1419fs) rs727504420
NM_000038.6(APC):c.4540C>T (p.Pro1514Ser) rs1060503266
NM_000038.6(APC):c.4546A>G (p.Ile1516Val) rs1554085952
NM_000038.6(APC):c.4885C>G (p.His1629Asp) rs765849654
NM_000038.6(APC):c.5201A>C (p.Lys1734Thr) rs1204161988
NM_000038.6(APC):c.5585dup (p.Leu1862fs) rs1554086823
NM_000038.6(APC):c.5645G>C (p.Arg1882Thr) rs34157245
NM_000038.6(APC):c.5718del (p.Ala1907fs) rs1554086923
NM_000038.6(APC):c.5761G>T (p.Gly1921Cys) rs1060503324
NM_000038.6(APC):c.592G>A (p.Val198Ile) rs1168791940
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) rs587781330
NM_000038.6(APC):c.6040G>A (p.Val2014Ile) rs143313902
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.638G>A (p.Arg213Gln) rs1235428754
NM_000038.6(APC):c.6434G>T (p.Gly2145Val) rs1554087422
NM_000038.6(APC):c.6542_6545del (p.Ile2181fs) rs1554087515
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.7289A>C (p.Asp2430Ala) rs1554088226
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) rs876659280
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000038.6(APC):c.811A>T (p.Met271Leu) rs587781464
NM_000038.6(APC):c.8181G>C (p.Gln2727His) rs756467505
NM_000038.6(APC):c.896_897del (p.Ser299fs) rs397515735
NM_000038.6(APC):c.942G>T (p.Met314Ile) rs1350080370
NM_000041.2:c.[388T>C];[526C>T]
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000053.4(ATP7B):c.383del (p.Gly128fs) rs797045083
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1147del (p.Ile383fs) rs80359265
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.4(BRCA2):c.1192del (p.Gln397_Leu398insTer) rs1060502403
NM_000059.4(BRCA2):c.1205del (p.Gly402fs) rs397507265
NM_000059.4(BRCA2):c.1381G>T (p.Glu461Ter) rs587782159
NM_000059.4(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs) rs80359303
NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter) rs80358464
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter) rs80358474
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.22_23del (p.Arg8fs) rs397507623
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter) rs398122746
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter) rs80358504
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter) rs730881521
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter) rs876657678
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle) rs276174841
NM_000059.4(BRCA2):c.4103del (p.Leu1368fs) rs1555283552
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer) rs398122777
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs) rs80359468
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5157_5161del (p.Asn1719fs) rs80359488
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.5217_5220del (p.Thr1738_Tyr1739insTer) rs80359494
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5352dup (p.Thr1785fs) rs1555284188
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs) rs80359512
NM_000059.4(BRCA2):c.5569G>T (p.Glu1857Ter) rs80358778
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter) rs80358783
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter) rs80359527
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6841+1G>A rs773863936
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7436-2A>T rs397507917
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter) rs80358994
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter) rs80359004
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs) rs483353072
NM_000059.4(BRCA2):c.7976+1G>A rs81002873
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8487+1G>A rs81002798
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter) rs80359101
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.8953+1G>T rs81002882
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.4(BRCA2):c.9253del (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs) rs80359759
NM_000059.4(BRCA2):c.956dup (p.Asn319fs) rs80359770
NM_000059.4(BRCA2):c.9777del (p.Ile3259fs) rs1593201815
NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter) rs1566261010
NM_000059.4(BRCA2):c.9907A>T (p.Ser3303Cys) rs276174930
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter) rs4987049
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000065.5(C6):c.878T>G (p.Ile293Ser) rs966341758
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.3609+1G>C rs754831666
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.744_745insTCCT (p.Gly249fs) rs1060499846
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs) rs1574007436
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000085.5(CLCNKB):c.*271G>C rs1057854
NM_000085.5(CLCNKB):c.80G>T (p.Arg27Leu) rs2015352
NM_000090.4(COL3A1):c.1173del (p.Pro392fs) rs1553507863
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.3251A>T (p.Glu1084Val) rs2072858880
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.5(COL4A3):c.3861C>T (p.Asp1287=) rs865786656
NM_000091.5(COL4A3):c.405A>G (p.Pro135=) rs1574675832
NM_000091.5(COL4A3):c.4673T>C (p.Ile1558Thr) rs2073643599
NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile) rs371173786
NM_000092.5(COL4A4):c.1459+2C>T rs932962404
NM_000092.5(COL4A4):c.1825C>G (p.Pro609Ala) rs1263397268
NM_000092.5(COL4A4):c.2319G>A (p.Arg773=) rs200920187
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr) rs200761108
NM_000092.5(COL4A4):c.297T>A (p.Pro99=) rs1576662029
NM_000092.5(COL4A4):c.3761T>C (p.Ile1254Thr) rs1575916161
NM_000092.5(COL4A4):c.4334-3del rs780415519
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000094.4(COL7A1):c.2993-2A>G rs1553612928
NM_000094.4(COL7A1):c.7557+1G>T rs786204774
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_000112.4(SLC26A2):c.2018A>G (p.Asp673Gly) rs774700553
NM_000116.5(TAFAZZIN):c.-17C>T rs727504330
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.371-13C>G rs397515742
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.752G>T (p.Arg251Leu) rs397515748
NM_000116.5(TAFAZZIN):c.778-24_778-7delinsA rs397515749
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000117.3(EMD):c.266-2A>G rs727503036
NM_000117.3(EMD):c.571A>G (p.Met191Val) rs397515752
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_000117.3(EMD):c.70G>A (p.Gly24Arg) rs727504628
NM_000117.3(EMD):c.711C>G (p.Ile237Met) rs727503037
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000117.3(EMD):c.83-2A>G rs727504901
NM_000121.4(EPOR):c.586-1G>A rs1968352260
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter) rs1283214655
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000138.4(FBN1):c.(?_4473)_(8280_?)del
NM_000138.4(FBN1):c.(?_5475)_(5542_?)del
NM_000138.5(FBN1):c.1036T>C (p.Ser346Pro) rs727504361
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) rs397515753
NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter) rs397515755
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter) rs397515754
NM_000138.5(FBN1):c.1335dup (p.Pro446fs) rs730880356
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs) rs397515758
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.5(FBN1):c.164+2T>C rs727503058
NM_000138.5(FBN1):c.1714+2del rs876657645
NM_000138.5(FBN1):c.1837+1G>T rs397515762
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1948dup (p.Arg650fs) rs1566913982
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) rs397515766
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter) rs397515768
NM_000138.5(FBN1):c.2412_2413del (p.Thr804_Cys805insTer) rs397515769
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser) rs397515770
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp) rs397515771
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.247+2dup rs397515772
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly) rs397515773
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.5(FBN1):c.2519C>T (p.Pro840Leu) rs397515777
NM_000138.5(FBN1):c.2537T>C (p.Ile846Thr) rs876657809
NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs) rs397515778
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter) rs397515779
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2757A>G (p.Gly919=) rs397515780
NM_000138.5(FBN1):c.2833del (p.Ala945fs) rs397515781
NM_000138.5(FBN1):c.2855-1G>A rs112202622
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser) rs727505110
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr) rs397515782
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe) rs397515782
NM_000138.5(FBN1):c.300C>T (p.Cys100=) rs397515783
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.3274del (p.Asp1092fs) rs397515788
NM_000138.5(FBN1):c.32_42del (p.Leu11fs) rs397515785
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser) rs397515790
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr) rs397515791
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.5(FBN1):c.3463+1G>T rs397515792
NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter) rs727504411
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn) rs397515793
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His) rs397515793
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser) rs397515795
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala) rs397515796
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser) rs397515799
NM_000138.5(FBN1):c.415G>C (p.Gly139Arg) rs397515800
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys) rs397515801
NM_000138.5(FBN1):c.4168_4171del (p.Leu1390fs) rs1555397655
NM_000138.5(FBN1):c.4202C>A (p.Thr1401Asn) rs1555397648
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del) rs397515803
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser) rs397515805
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.5(FBN1):c.4459+3A>T rs397515809
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs) rs727503056
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4942+4A>G rs397515815
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser) rs397515818
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5066-1G>C rs397515819
NM_000138.5(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5225-3C>A rs876657810
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter) rs397515820
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg) rs363853
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu) rs113086760
NM_000138.5(FBN1):c.561del (p.Phe187fs) rs397515825
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys) rs397515826
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5861del (p.Phe1954fs) rs1555395756
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.5(FBN1):c.5888del (p.Glu1963fs) rs727504315
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter) rs397515831
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr) rs363821
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs) rs397515834
NM_000138.5(FBN1):c.660del (p.Cys221fs) rs727505269
NM_000138.5(FBN1):c.6617-9_6617-8inv
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp) rs397515836
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser) rs397515837
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6690C>G (p.Cys2230Trp) rs727504931
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly) rs397515838
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter) rs397515840
NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter) rs727504410
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr) rs137854457
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.6992G>A (p.Cys2331Tyr) rs397515842
NM_000138.5(FBN1):c.6997+4A>G rs727503055
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr) rs397515845
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs) rs397515846
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val) rs397515849
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7203A>G (p.Ala2401=) rs397515850
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs) rs1597516501
NM_000138.5(FBN1):c.7453+1G>T rs397515851
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer) rs397515852
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala) rs397515853
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7640G>T (p.Ser2547Ile) rs397515855
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.7699+5del rs397515856
NM_000138.5(FBN1):c.7784G>T (p.Gly2595Val) rs397515857
NM_000138.5(FBN1):c.787A>G (p.Ile263Val) rs876657811
NM_000138.5(FBN1):c.7881G>A (p.Gly2627=) rs397515858
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs) rs727504651
NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter) rs397515861
NM_000138.5(FBN1):c.8362_8386delinsGA (p.Thr2788fs) rs397515862
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del) rs727504454
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) rs397515864
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro) rs397515865
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs) rs397515866
NM_000138.5(FBN1):c.958dup (p.Tyr320fs) rs397515867
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.5(FECH):c.47del (p.Gly16fs) rs2051380165
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter) rs149171124
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.178C>A (p.Pro60Thr) rs727504689
NM_000169.3(GLA):c.194+14G>C rs876657469
NM_000169.3(GLA):c.28C>T (p.Leu10=) rs727503073
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.485G>T (p.Trp162Leu) rs727504350
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.630C>T (p.Pro210=) rs727503071
NM_000169.3(GLA):c.640-854_640-853del rs201655854
NM_000169.3(GLA):c.643A>C (p.Asn215His) rs727504794
NM_000169.3(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.724A>T (p.Ile242Phe) rs397515873
NM_000169.3(GLA):c.729G>C (p.Leu243Phe) rs397515874
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.797A>C (p.Asp266Ala) rs28935487
NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT rs727504773
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000171.4(GLRA1):c.403del (p.His135fs) rs1581623798
NM_000179.3(MSH6):c.*24_*28del rs587779200
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.1039_1040insC (p.Glu347fs) rs1553412441
NM_000179.3(MSH6):c.1048G>C (p.Ala350Pro) rs1425548621
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1885G>T (p.Asp629Tyr) rs1064795030
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter) rs1333555322
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter) rs746306598
NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs) rs1553414092
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met) rs63750442
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.3(MSH6):c.3556+1G>T rs1060502926
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3831C>A (p.Asp1277Glu) rs775752224
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs) rs1572747278
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter) rs1572747685
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4051_4055dup (p.Lys1352fs) rs1553334033
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.530A>T (p.Gln177Leu) rs1553411434
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000179.3(MSH6):c.895A>G (p.Lys299Glu) rs1553412326
NM_000179.3(MSH6):c.900dup (p.Lys301fs) rs863225421
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1129-8G>A rs200612600
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn) rs537637760
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly) rs876657836
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1374C>T (p.Val458=) rs778598703
NM_000218.3(KCNQ1):c.1394-8C>A rs371488379
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter) rs794728530
NM_000218.3(KCNQ1):c.1591-1G>A rs1590081328
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1685+2T>G rs1590081467
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1923del (p.Cys642fs) rs1590130358
NM_000218.3(KCNQ1):c.1926C>G (p.Cys642Trp) rs12720454
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.285C>A (p.Ser95Arg) rs1589884451
NM_000218.3(KCNQ1):c.347G>A (p.Arg116His) rs727504506
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=) rs757713526
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.683+1G>A rs1589957233
NM_000218.3(KCNQ1):c.781-19TG[2] rs727503103
NM_000218.3(KCNQ1):c.826del (p.Ser276fs) rs786204778
NM_000219.3(KCNE1):c.(?_-50-60)_(*181_?)dup
NM_000219.3(KCNE1):c.(?_1)_(390_?)dup
NM_000219.6(KCNE1):c.18C>G (p.Thr6=) rs727503102
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.292C>G (p.Arg98Gly) rs199473362
NM_000228.3(LAMB3):c.2685_2701+2del rs1571803654
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000235.4(LIPA):c.253C>T (p.Gln85Ter) rs797045094
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.2398+71del rs1060499871
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala) rs199473009
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000246.4(CIITA):c.338dup (p.Leu114fs) rs1596513253
NM_000249.3(MLH1):c.(?_1732)_(2271_?)del
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg) rs886058383
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.379A>C (p.Arg127=) rs587779007
NM_000249.4(MLH1):c.457G>A (p.Glu153Lys) rs1553642660
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.1293dup (p.Leu432fs) rs1553361162
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.3(MSH2):c.1520del (p.Pro507fs) rs1553366510
NM_000251.3(MSH2):c.1637dup (p.Asn547fs) rs1553366642
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys) rs587779102
NM_000251.3(MSH2):c.1682_1685inv (p.Glu561_Glu562delinsValLeu)
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile) rs1064793981
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2305T>C (p.Tyr769His) rs1114167859
NM_000251.3(MSH2):c.2354A>C (p.His785Pro) rs200252727
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.2782T>G (p.Ser928Ala) rs587781852
NM_000251.3(MSH2):c.28C>T (p.Gln10Ter) rs63751099
NM_000251.3(MSH2):c.51C>T (p.Val17=) rs397515879
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.3(MSH2):c.942+20_942+29del rs11309117
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000256.3(MYBPC3):c.(?_26)_(1090_?)del
NM_000256.3(MYBPC3):c.(?_2906)_(3627_?)del
NM_000256.3(MYBPC3):c.*6_*16del rs727504359
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) rs573916965
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) rs730880336
NM_000256.3(MYBPC3):c.1075G>T (p.Glu359Ter) rs876657702
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1090+1G>T rs727504269
NM_000256.3(MYBPC3):c.1091-18_1091-8del rs397515886
NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg) rs397515887
NM_000256.3(MYBPC3):c.1156G>T (p.Glu386Ter) rs397515888
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1188G>T (p.Trp396Cys) rs397515890
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter) rs727504329
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val) rs727503207
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer) rs397515894
NM_000256.3(MYBPC3):c.1264A>C (p.Thr422Pro) rs727503206
NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter) rs397515895
NM_000256.3(MYBPC3):c.1310del (p.Val437fs) rs397515896
NM_000256.3(MYBPC3):c.1330del (p.Ser444fs) rs727505152
NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser) rs727504279
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1358C>T (p.Pro453Leu) rs397515898
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser) rs397515900
NM_000256.3(MYBPC3):c.1422G>C (p.Glu474Asp) rs397515901
NM_000256.3(MYBPC3):c.1444dup (p.Ala482fs) rs876657703
NM_000256.3(MYBPC3):c.1456T>G (p.Trp486Gly) rs397515902
NM_000256.3(MYBPC3):c.1457+5G>C rs727503202
NM_000256.3(MYBPC3):c.1457+6_1457+25del rs727503201
NM_000256.3(MYBPC3):c.1458-1G>A rs397515903
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu) rs397515907
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1535T>A (p.Leu512Gln) rs397515909
NM_000256.3(MYBPC3):c.1535T>C (p.Leu512Pro) rs397515909
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1586C>G (p.Thr529Ser) rs397515911
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1624+13G>A rs397515913
NM_000256.3(MYBPC3):c.1624+13G>C rs397515913
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624+9G>A rs397515917
NM_000256.3(MYBPC3):c.1628del (p.Lys543fs) rs727504248
NM_000256.3(MYBPC3):c.1641G>A (p.Val547=) rs397515915
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) rs727504366
NM_000256.3(MYBPC3):c.1684G>A (p.Ala562Thr) rs397515919
NM_000256.3(MYBPC3):c.1693A>T (p.Lys565Ter) rs397515920
NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs) rs727503197
NM_000256.3(MYBPC3):c.1719T>G (p.Val573=) rs397515921
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=) rs727503196
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1790+5G>A rs727504489
NM_000256.3(MYBPC3):c.1791-10_1791-8delinsCCT rs876657510
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.1808T>C (p.Ile603Thr) rs397515928
NM_000256.3(MYBPC3):c.1811ACG[1] (p.Asp605del) rs397515930
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1863del (p.Phe621fs) rs397515931
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) rs397515932
NM_000256.3(MYBPC3):c.1892del (p.Phe631fs) rs397515933
NM_000256.3(MYBPC3):c.1895del (p.Met632fs) rs397515934
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.1897+5G>A rs397515936
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) rs727504293
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1950C>G (p.Asp650Glu) rs727504250
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) rs1800565
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.2040dup (p.Val681fs) rs397515944
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) rs397515947
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs) rs397515948
NM_000256.3(MYBPC3):c.2136G>A (p.Val712=) rs876657511
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2148+6_2148+9del rs397515949
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs) rs730880362
NM_000256.3(MYBPC3):c.2163del (p.Glu722fs) rs397515952
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) rs397515954
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2308+1G>T rs112738974
NM_000256.3(MYBPC3):c.2309-20G>A rs397515958
NM_000256.3(MYBPC3):c.2309-21G>A rs727505287
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2312T>C (p.Val771Ala) rs397515961
NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter) rs727504864
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) rs730880341
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly) rs727504335
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2436G>T (p.Lys812Asn) rs727504251
NM_000256.3(MYBPC3):c.2437A>T (p.Lys813Ter) rs727504252
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter) rs397515965
NM_000256.3(MYBPC3):c.2456T>C (p.Met819Thr) rs876657870
NM_000256.3(MYBPC3):c.2499G>A (p.Ala833=) rs397515967
NM_000256.3(MYBPC3):c.25+3A>C rs397515968
NM_000256.3(MYBPC3):c.2504del (p.Arg835fs) rs876657704
NM_000256.3(MYBPC3):c.2512G>A (p.Glu838Lys) rs397515969
NM_000256.3(MYBPC3):c.2517_2538del (p.Val840fs) rs727503187
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs) rs397515970
NM_000256.3(MYBPC3):c.2525A>G (p.Tyr842Cys) rs397515971
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del) rs397515972
NM_000256.3(MYBPC3):c.2533C>T (p.Arg845Cys) rs727504345
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2541C>A (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs) rs397515975
NM_000256.3(MYBPC3):c.2556del (p.Ile852fs) rs727503186
NM_000256.3(MYBPC3):c.2558del (p.Gly853fs) rs397515977
NM_000256.3(MYBPC3):c.26-10G>A rs397515978
NM_000256.3(MYBPC3):c.2604_2605delinsA (p.Ser871fs) rs727504371
NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2623C>T (p.His875Tyr) rs1555120949
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs) rs730880657
NM_000256.3(MYBPC3):c.2737+1G>C rs727504314
NM_000256.3(MYBPC3):c.2737+2T>A rs727503184
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter) rs727504349
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=) rs372510974
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs) rs876657705
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2839C>A (p.His947Asn) rs397515988
NM_000256.3(MYBPC3):c.2856T>G (p.Pro952=) rs397515989
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs) rs727503182
NM_000256.3(MYBPC3):c.2904G>C (p.Leu968=) rs747974933
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+1G>C rs397515991
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter) rs727503180
NM_000256.3(MYBPC3):c.2943_2947del (p.Gln981fs) rs397515995
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter) rs727504423
NM_000256.3(MYBPC3):c.2956A>G (p.Lys986Glu) rs876657871
NM_000256.3(MYBPC3):c.2963G>T (p.Gly988Val) rs727504942
NM_000256.3(MYBPC3):c.2965G>T (p.Glu989Ter) rs727503178
NM_000256.3(MYBPC3):c.2994+2T>C rs727503176
NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs) rs397515997
NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His) rs397516000
NM_000256.3(MYBPC3):c.3068dup (p.Asn1023fs) rs397516001
NM_000256.3(MYBPC3):c.3083C>G (p.Thr1028Ser) rs397516002
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3087C>T (p.Ile1029=) rs201515977
NM_000256.3(MYBPC3):c.3089_3101del (p.Leu1030fs) rs727503175
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs) rs727503174
NM_000256.3(MYBPC3):c.3190G>A (p.Asp1064Asn) rs727505191
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs) rs397516007
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3281A>T (p.Asn1094Ile) rs397516012
NM_000256.3(MYBPC3):c.3285G>C (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter) rs397516013
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=) rs200372325
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter) rs727504276
NM_000256.3(MYBPC3):c.333T>C (p.Ala111=) rs397516017
NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter) rs730880335
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.343G>T (p.Gly115Ter) rs727503220
NM_000256.3(MYBPC3):c.3469C>G (p.Pro1157Ala) rs727505286
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs) rs727504321
NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs) rs397516019
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs) rs876657706
NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys) rs397516024
NM_000256.3(MYBPC3):c.3585C>A (p.Gly1195=) rs397516027
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs) rs727504271
NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr) rs727503170
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362del (p.Pro121fs) rs397516032
NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter) rs730880597
NM_000256.3(MYBPC3):c.3644dup (p.Lys1216fs) rs730880361
NM_000256.3(MYBPC3):c.3651T>C (p.Asn1217=) rs528649058
NM_000256.3(MYBPC3):c.3677G>T (p.Arg1226Leu) rs397516034
NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro) rs528940575
NM_000256.3(MYBPC3):c.3690_3691del (p.Phe1230fs) rs727504390
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) rs397516035
NM_000256.3(MYBPC3):c.3709A>C (p.Thr1237Pro) rs727503168
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His) rs730880601
NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=) rs397516039
NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter) rs397516039
NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp) rs727504722
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr) rs397514751
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.3797GCC[1] (p.Arg1267del) rs727504933
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs) rs397516047
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs) rs730880366
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.505+6T>G rs397516055
NM_000256.3(MYBPC3):c.506-11=
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.506-1G>T rs397516056
NM_000256.3(MYBPC3):c.506-2A>C rs397516057
NM_000256.3(MYBPC3):c.518C>A (p.Thr173Asn) rs113941605
NM_000256.3(MYBPC3):c.532G>A (p.Val178Met) rs727503218
NM_000256.3(MYBPC3):c.533del (p.Val178fs) rs727503217
NM_000256.3(MYBPC3):c.541_560del (p.Ala181fs) rs397516058
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp) rs397516060
NM_000256.3(MYBPC3):c.588G>C (p.Trp196Cys) rs727503215
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.622C>T (p.Gln208Ter) rs1595849603
NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg) rs397516062
NM_000256.3(MYBPC3):c.654+5G>A rs397516066
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.773-2A>T rs1595848628
NM_000256.3(MYBPC3):c.821+1G>C rs397516073
NM_000256.3(MYBPC3):c.821+2T>C rs397516076
NM_000256.3(MYBPC3):c.821+3G>C rs727503213
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.841C>A (p.Arg281=) rs371711564
NM_000256.3(MYBPC3):c.852-10C>G rs750425291
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000256.3(MYBPC3):c.853G>A (p.Asp285Asn) rs727504523
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.926+1_926+5del rs1555122811
NM_000256.3(MYBPC3):c.926+4A>G rs397516081
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000256.3(MYBPC3):c.931T>A (p.Ser311Thr) rs397516084
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu) rs193922386
NM_000256.3(MYBPC3):c.933G>A (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000256.3(MYBPC3):c.979C>T (p.Gln327Ter) rs727503210
NM_000256.3(MYBPC3):c.984_1054del (p.Pro329fs) rs1555122751
NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter) rs727503209
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.4(MYH7):c.-7C>A rs876657890
NM_000257.4(MYH7):c.1003G>T (p.Ala335Ser) rs727503272
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1013T>C (p.Val338Ala) rs397516087
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.4(MYH7):c.1129G>A (p.Gly377Ser) rs773599095
NM_000257.4(MYH7):c.1132A>C (p.Thr378Pro) rs397516090
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) rs727503269
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu) rs727503268
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn) rs397516093
NM_000257.4(MYH7):c.1180G>C (p.Asp394His) rs397516093
NM_000257.4(MYH7):c.1204C>A (p.Pro402Thr) rs397516094
NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly) rs3218714
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val) rs397516095
NM_000257.4(MYH7):c.1269C>T (p.Ala423=) rs727503267
NM_000257.4(MYH7):c.1273G>A (p.Gly425Arg) rs397516097
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1352A>C (p.Gln451Pro) rs397516100
NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser) rs121913625
NM_000257.4(MYH7):c.135G>T (p.Glu45Asp) rs397516102
NM_000257.4(MYH7):c.137T>G (p.Phe46Cys) rs397516104
NM_000257.4(MYH7):c.1402T>C (p.Phe468Leu) rs727504338
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr) rs397516106
NM_000257.4(MYH7):c.1426C>G (p.Leu476Val) rs397516107
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs) rs727504336
NM_000257.4(MYH7):c.1490A>G (p.Glu497Gly) rs727504296
NM_000257.4(MYH7):c.1496A>G (p.Glu499Gly) rs727504270
NM_000257.4(MYH7):c.1499A>C (p.Glu500Ala) rs727504286
NM_000257.4(MYH7):c.1504A>G (p.Lys502Glu) rs876657877
NM_000257.4(MYH7):c.1505_1516del (p.Lys502_Gly505del) rs727504828
NM_000257.4(MYH7):c.1514G>T (p.Gly505Val) rs397516109
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.4(MYH7):c.1536C>T (p.Asp512=) rs1555338248
NM_000257.4(MYH7):c.1541G>A (p.Gly514Asp) rs397516111
NM_000257.4(MYH7):c.1549C>A (p.Leu517Met) rs727504237
NM_000257.4(MYH7):c.1562T>C (p.Ile521Thr) rs727504328
NM_000257.4(MYH7):c.156G>A (p.Val52=) rs397516112
NM_000257.4(MYH7):c.1570A>G (p.Ile524Val) rs727504401
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1584G>A (p.Met528Ile) rs727503265
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.1597A>G (p.Ile533Val) rs397516113
NM_000257.4(MYH7):c.1598T>A (p.Ile533Asn) rs397516114
NM_000257.4(MYH7):c.1608G>T (p.Glu536Asp) rs397516115
NM_000257.4(MYH7):c.1612T>C (p.Cys538Arg) rs397516116
NM_000257.4(MYH7):c.1640C>A (p.Thr547Asn) rs876657878
NM_000257.4(MYH7):c.1653G>A (p.Lys551=) rs368160680
NM_000257.4(MYH7):c.167G>C (p.Gly56Ala) rs727504870
NM_000257.4(MYH7):c.1742A>G (p.His581Arg) rs397516120
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala) rs397516121
NM_000257.4(MYH7):c.1759G>A (p.Asp587Asn) rs727504294
NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys) rs397516122
NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser) rs397516123
NM_000257.4(MYH7):c.1804A>G (p.Asn602Asp) rs727505332
NM_000257.4(MYH7):c.1822T>G (p.Leu608Val) rs1555338124
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys) rs727504925
NM_000257.4(MYH7):c.183C>G (p.Ala61=) rs370743876
NM_000257.4(MYH7):c.1871A>G (p.Tyr624Cys) rs727504291
NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala) rs1555338080
NM_000257.4(MYH7):c.1957-15C>A rs1555338036
NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln) rs727503264
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2093T>C (p.Val698Ala) rs397516130
NM_000257.4(MYH7):c.2101G>A (p.Gly701Ser) rs397516131
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2117G>C (p.Arg706Thr) rs397516133
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala) rs397516134
NM_000257.4(MYH7):c.2123G>T (p.Gly708Val) rs397516134
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu) rs727504272
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2147G>A (p.Gly716Glu) rs1555337912
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2171T>A (p.Ile724Asn) rs397516136
NM_000257.4(MYH7):c.2178C>A (p.Asn726Lys) rs397516137
NM_000257.4(MYH7):c.2191C>G (p.Pro731Ala) rs727504299
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu) rs727504241
NM_000257.4(MYH7):c.2207T>A (p.Ile736Asn) rs727503261
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2217G>T (p.Arg739Ser) rs727504429
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2242T>C (p.Ser748Pro) rs876657879
NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln) rs727504320
NM_000257.4(MYH7):c.2285A>G (p.Lys762Arg) rs397516140
NM_000257.4(MYH7):c.2287G>A (p.Val763Met) rs727504253
NM_000257.4(MYH7):c.2296A>C (p.Lys766Gln) rs397516141
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2342T>C (p.Leu781Pro) rs727503259
NM_000257.4(MYH7):c.2347C>G (p.Arg783Gly) rs727503258
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) rs397516142
NM_000257.4(MYH7):c.2358G>T (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.2388C>T (p.Leu796=) rs397516144
NM_000257.4(MYH7):c.2401T>A (p.Tyr801Asn) rs397516145
NM_000257.4(MYH7):c.2424-12G>T rs727503257
NM_000257.4(MYH7):c.2424-5T>C rs397516146
NM_000257.4(MYH7):c.2432T>C (p.Leu811Pro) rs727503256
NM_000257.4(MYH7):c.2462T>C (p.Phe821Ser) rs397516148
NM_000257.4(MYH7):c.2470G>C (p.Val824Leu) rs397516149
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.4(MYH7):c.2480G>T (p.Trp827Leu) rs542565151
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2498A>G (p.Tyr833Cys) rs727504546
NM_000257.4(MYH7):c.2502C>G (p.Phe834Leu) rs397516152
NM_000257.4(MYH7):c.2504A>T (p.Lys835Met) rs876657880
NM_000257.4(MYH7):c.2513C>A (p.Pro838Gln) rs397516153
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) rs397516153
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2527G>A (p.Ala843Thr) rs727505132
NM_000257.4(MYH7):c.2537A>G (p.Glu846Gly) rs876657881
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2544G>C (p.Glu848Asp) rs730880899
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) rs397516156
NM_000257.4(MYH7):c.2548G>A (p.Ala850Thr) rs1060499880
NM_000257.4(MYH7):c.2572C>A (p.Arg858Ser) rs2754158
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly) rs2754158
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2620GAG[1] (p.Glu875del) rs397516159
NM_000257.4(MYH7):c.2624AGA[1] (p.Lys876del) rs727504368
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2683C>G (p.Gln895Glu) rs397516162
NM_000257.4(MYH7):c.2692C>G (p.Leu898Val) rs727504407
NM_000257.4(MYH7):c.2699A>G (p.Asp900Gly) rs397516163
NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys) rs869130333
NM_000257.4(MYH7):c.2708A>G (p.Glu903Gly) rs727504261
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2716G>A (p.Asp906Asn) rs397516164
NM_000257.4(MYH7):c.2719C>A (p.Gln907Lys) rs397516167
NM_000257.4(MYH7):c.2725A>G (p.Ile909Val) rs397516168
NM_000257.4(MYH7):c.2742G>T (p.Gln914His) rs727504404
NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro) rs397516166
NM_000257.4(MYH7):c.2746G>A (p.Glu916Lys) rs397516169
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys) rs397516170
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2783A>C (p.Asp928Ala) rs727504558
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) rs397516172
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2799T>C (p.Asn933=) rs397516173
NM_000257.4(MYH7):c.2802T>G (p.Ala934=) rs397516174
NM_000257.4(MYH7):c.2823C>T (p.Arg941=) rs727503251
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.4(MYH7):c.2882T>C (p.Leu961Pro) rs727504374
NM_000257.4(MYH7):c.28G>A (p.Gly10Arg) rs199577321
NM_000257.4(MYH7):c.293A>T (p.Glu98Val) rs727503279
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr) rs730880154
NM_000257.4(MYH7):c.299C>T (p.Ala100Val) rs876657882
NM_000257.4(MYH7):c.3055A>G (p.Thr1019Ala) rs200714763
NM_000257.4(MYH7):c.3083A>G (p.Glu1028Gly) rs397516177
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3235C>G (p.Arg1079Gly) rs192722540
NM_000257.4(MYH7):c.3336+3G>A rs397516180
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
NM_000257.4(MYH7):c.3370G>T (p.Ala1124Ser) rs1041961
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.3438C>T (p.Ile1146=) rs876657519
NM_000257.4(MYH7):c.3591_3592delinsAAGAAGC (p.Asp1198fs) rs876657883
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.3621C>A (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3626A>G (p.Asn1209Ser) rs397516189
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) rs397516190
NM_000257.4(MYH7):c.3664A>G (p.Ser1222Gly) rs727504647
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000257.4(MYH7):c.3754T>C (p.Leu1252=) rs397516193
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3829C>A (p.Arg1277=) rs727503248
NM_000257.4(MYH7):c.3880_3882del (p.Lys1294del) rs1555336976
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln) rs727505325
NM_000257.4(MYH7):c.3967G>A (p.Val1323Ile) rs727503247
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.3973-2A>T rs397516197
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp) rs727504352
NM_000257.4(MYH7):c.4036C>G (p.Gln1346Glu) rs730880787
NM_000257.4(MYH7):c.4075C>A (p.Arg1359Ser) rs45451303
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.4136C>A (p.Ala1379Asp) rs397516203
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe) rs727504703
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4204G>A (p.Glu1402Lys) rs727505025
NM_000257.4(MYH7):c.4208C>A (p.Ala1403Asp) rs397516204
NM_000257.4(MYH7):c.4212G>T (p.Val1404=) rs397516205
NM_000257.4(MYH7):c.4256A>G (p.His1419Arg) rs397516206
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.431G>A (p.Gly144Asp) rs730880834
NM_000257.4(MYH7):c.4330A>G (p.Lys1444Glu) rs397516210
NM_000257.4(MYH7):c.4354-2A>C rs727504734
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.4362C>G (p.Ala1454=) rs727505281
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.4395G>T (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4402G>C (p.Glu1468Gln) rs876657884
NM_000257.4(MYH7):c.4408T>C (p.Ser1470Pro) rs397516215
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter) rs397516216
NM_000257.4(MYH7):c.4436C>T (p.Thr1479Ile) rs397516217
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4515G>T (p.Leu1505=) rs397516219
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser) rs397516222
NM_000257.4(MYH7):c.4540G>A (p.Glu1514Lys) rs397516223
NM_000257.4(MYH7):c.457del (p.His153fs) rs397516224
NM_000257.4(MYH7):c.4663G>C (p.Glu1555Gln) rs727505176
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp) rs397516227
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val) rs397516229
NM_000257.4(MYH7):c.4838G>A (p.Arg1613Lys) rs397516230
NM_000257.4(MYH7):c.487C>T (p.Gln163Ter) rs727505011
NM_000257.4(MYH7):c.4900C>T (p.Arg1634Cys) rs397516232
NM_000257.4(MYH7):c.4953+13A>T rs373509029
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000257.4(MYH7):c.5015_5020del (p.Ala1672_Ile1673del) rs397516234
NM_000257.4(MYH7):c.505A>G (p.Arg169Gly) rs727504267
NM_000257.4(MYH7):c.5067_5079delinsGGCCGTGGAAGAA (p.Val1692Glu) rs727505033
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys) rs397516237
NM_000257.4(MYH7):c.507A>T (p.Arg169Ser) rs397516238
NM_000257.4(MYH7):c.5110C>T (p.Gln1704Ter) rs727504844
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5156A>G (p.Gln1719Arg) rs727504403
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val) rs397516240
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys) rs397516241
NM_000257.4(MYH7):c.5302_5303delinsAT (p.Glu1768Met) rs876657886
NM_000257.4(MYH7):c.531-3_531del rs397516242
NM_000257.4(MYH7):c.5332C>T (p.His1778Tyr) rs397516244
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val) rs727504385
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5421C>G (p.Gly1807=) rs142844109
NM_000257.4(MYH7):c.5421C>T (p.Gly1807=) rs142844109
NM_000257.4(MYH7):c.5469_5471delinsATG (p.Asn1824Cys) rs1060499881
NM_000257.4(MYH7):c.560A>G (p.Asn187Ser) rs397516249
NM_000257.4(MYH7):c.5656-4G>C rs397516250
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.5696T>C (p.Val1899Ala) rs727504384
NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly) rs397516252
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) rs397516253
NM_000257.4(MYH7):c.5739C>T (p.Ala1913=) rs200921000
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.5762G>C (p.Arg1921Pro) rs397516256
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.610C>A (p.Arg204Ser) rs397516259
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.671A>C (p.Asn224Thr) rs727505148
NM_000257.4(MYH7):c.677C>T (p.Ala226Val) rs876657887
NM_000257.4(MYH7):c.686C>T (p.Ala229Val) rs876657888
NM_000257.4(MYH7):c.698C>T (p.Ala233Val) rs727504362
NM_000257.4(MYH7):c.703A>G (p.Thr235Ala) rs876657889
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000257.4(MYH7):c.710G>A (p.Arg237Gln) rs397516263
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.732+1del rs397516266
NM_000257.4(MYH7):c.734G>A (p.Gly245Glu) rs397516267
NM_000257.4(MYH7):c.739T>C (p.Phe247Leu) rs727503276
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.742A>T (p.Ile248Phe) rs727503275
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr) rs727504280
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.748A>G (p.Ile250Val) rs397516268
NM_000257.4(MYH7):c.755T>C (p.Phe252Ser) rs727505202
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.799C>G (p.Leu267Val) rs727504409
NM_000257.4(MYH7):c.830T>C (p.Leu277Pro) rs727504297
NM_000257.4(MYH7):c.835G>A (p.Ala279Thr) rs397516270
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000257.4(MYH7):c.844G>T (p.Asp282Tyr) rs397516271
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.854T>C (p.Ile285Thr) rs1555338574
NM_000257.4(MYH7):c.859T>C (p.Tyr287His) rs727503273
NM_000257.4(MYH7):c.872C>T (p.Ser291Phe) rs397516272
NM_000257.4(MYH7):c.895+11G>A rs727504860
NM_000257.4(MYH7):c.920C>T (p.Pro307Leu) rs397516273
NM_000257.4(MYH7):c.953C>A (p.Thr318Asn) rs397516274
NM_000257.4(MYH7):c.968T>A (p.Ile323Asn) rs397516275
NM_000257.4(MYH7):c.991G>C (p.Ala331Pro) rs397516276
NM_000258.3(MYL3):c.11A>G (p.Lys4Arg) rs727503301
NM_000258.3(MYL3):c.165G>A (p.Lys55=) rs397516277
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.184G>A (p.Asp62Asn) rs730880954
NM_000258.3(MYL3):c.338C>T (p.Thr113Ile) rs397516278
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423
NM_000258.3(MYL3):c.452C>T (p.Ala151Val) rs876657895
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000258.3(MYL3):c.477G>T (p.Thr159=) rs148365503
NM_000258.3(MYL3):c.482-1G>A rs727503300
NM_000258.3(MYL3):c.520G>C (p.Ala174Pro) rs397516279
NM_000258.3(MYL3):c.9C>G (p.Pro3=) rs397516280
NM_000260.3(MYO7A):c.(?_6355)_(6648_?)del
NM_000260.3(MYO7A):c.1556delG rs606231379
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1133G>C (p.Arg378Pro) rs397516282
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) rs111033286
NM_000260.4(MYO7A):c.1374T>G (p.Asn458Lys) rs782293740
NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter) rs397516285
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) rs797044492
NM_000260.4(MYO7A):c.1623C>G (p.Pro541=) rs373327248
NM_000260.4(MYO7A):c.1690+1G>A rs111033389
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer) rs397516290
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg) rs797044514
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) rs111033510
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) rs387906699
NM_000260.4(MYO7A):c.2039A>G (p.Glu680Gly) rs1555079057
NM_000260.4(MYO7A):c.2094+1G>A rs111033404
NM_000260.4(MYO7A):c.2094+1G>C rs111033404
NM_000260.4(MYO7A):c.2172del (p.Lys725fs) rs397516294
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) rs1224881006
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr) rs1591374351
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000260.4(MYO7A):c.2829G>A (p.Val943=) rs797044494
NM_000260.4(MYO7A):c.284A>T (p.Tyr95Phe) rs797044489
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3036A>G (p.Thr1012=) rs111033251
NM_000260.4(MYO7A):c.3109-13_3109-12insTCTGGCCTCTGACATGTGCGC rs869312123
NM_000260.4(MYO7A):c.314T>G (p.Val105Gly) rs876657654
NM_000260.4(MYO7A):c.3327del (p.His1109fs) rs111033433
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) rs111033239
NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro) rs111033482
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs) rs111033390
NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer) rs797044513
NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp) rs397516301
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg) rs111033195
NM_000260.4(MYO7A):c.3656G>T (p.Gly1219Val) rs1555090958
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs) rs397516303
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[3] rs759572835
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4084G>A (p.Val1362Met) rs774773009
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val) rs727504594
NM_000260.4(MYO7A):c.4251C>T (p.Ile1417=) rs397516307
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) rs397516310
NM_000260.4(MYO7A):c.4442-2A>C rs111033337
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.4(MYO7A):c.4555del (p.Val1519fs) rs876657712
NM_000260.4(MYO7A):c.4568+12C>G rs72933642
NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr) rs397516312
NM_000260.4(MYO7A):c.4732G>A (p.Asp1578Asn) rs778007315
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile) rs1591467534
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr) rs762131185
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5327-11A>G rs397516316
NM_000260.4(MYO7A):c.5464A>C (p.Thr1822Pro) rs727504541
NM_000260.4(MYO7A):c.5486_5487delinsTT (p.Ser1829Ile) rs1957384051
NM_000260.4(MYO7A):c.5487C>T (p.Ser1829=) rs397516318
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5497G>C (p.Gly1833Arg) rs1367496020
NM_000260.4(MYO7A):c.5504A>G (p.Glu1835Gly) rs727503331
NM_000260.4(MYO7A):c.5581dup (p.Arg1861fs) rs397516320
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5600C>T (p.Ala1867Val) rs876657914
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.582del (p.Ile195fs) rs111033238
NM_000260.4(MYO7A):c.5845_5855del (p.Ile1949fs) rs876657713
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) rs397516324
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) rs397516325
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6054G>A (p.Glu2018=) rs1239820996
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.612C>A (p.Thr204=) rs1555062863
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) rs730880367
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=) rs727504834
NM_000260.4(MYO7A):c.6267A>G (p.Ala2089=) rs564910239
NM_000260.4(MYO7A):c.6356A>C (p.Gln2119Pro) rs1029122324
NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp) rs1555111106
NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter) rs397516331
NM_000260.4(MYO7A):c.652G>C (p.Asp218His) rs201539845
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.6577C>T (p.Leu2193Phe) rs397516333
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) rs111033388
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.765C>T (p.Phe255=) rs782702948
NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) rs369125667
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000260.4(MYO7A):c.973_976del (p.Ile325fs) rs797044490
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000262.3(NAGA):c.1097_1098del (p.Ile365_Tyr366insTer) rs1602490557
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000265.7(NCF1):c.295= (p.Ser99=) rs10614
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del) rs1555641909
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000278.5(PAX2):c.44-12_44-8dup rs1845364215
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000295.5(SERPINA1):c.792G>A (p.Leu264=) rs1429761476
NM_000307.5(POU3F4):c.1086_*3del (p.Ter362TrpextTer?) rs727503377
NM_000307.5(POU3F4):c.249C>A (p.Pro83=) rs370722742
NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter) rs111033343
NM_000307.5(POU3F4):c.499C>T (p.Arg167Ter) rs111033345
NM_000307.5(POU3F4):c.591C>T (p.Phe197=) rs1555984566
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs) rs876657719
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) rs397516335
NM_000307.5(POU3F4):c.708= (p.Glu236=) rs5921978
NM_000307.5(POU3F4):c.710= (p.Ala237=) rs5921979
NM_000307.5(POU3F4):c.798G>A (p.Pro266=) rs186990152
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) rs397516336
NM_000307.5(POU3F4):c.924CTC[1] (p.Ser310del) rs111033340
NM_000307.5(POU3F4):c.964G>A (p.Val322Met) rs111033291
NM_000307.5(POU3F4):c.967C>T (p.Arg323Cys) rs104894924
NM_000307.5(POU3F4):c.968G>A (p.Arg323His) rs727505246
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.723del (p.Phe241fs) rs1060500115
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) rs750201480
NM_000321.3(RB1):c.2520+1G>A rs587778850
NM_000335.5(SCN5A):c.1020G>T (p.Arg340=) rs727503410
NM_000335.5(SCN5A):c.1050C>G (p.His350Gln) rs587781160
NM_000335.5(SCN5A):c.1237G>T (p.Ala413Ser) rs199473110
NM_000335.5(SCN5A):c.1347C>A (p.Thr449=) rs45477694
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1653G>A (p.Ala551=) rs397517952
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.5(SCN5A):c.2240A>C (p.Glu747Ala) rs747324991
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.5(SCN5A):c.2647G>A (p.Asp883Asn) rs727505351
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.2894G>A (p.Arg965His) rs199473181
NM_000335.5(SCN5A):c.2990C>A (p.Ala997Asp) rs727503408
NM_000335.5(SCN5A):c.2999_3001del (p.Gln1000del) rs748297358
NM_000335.5(SCN5A):c.3229-13G>A rs1575757490
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.5(SCN5A):c.3508+14C>A rs397516561
NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
NM_000335.5(SCN5A):c.3844C>A (p.Leu1282Met) rs199473216
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4243-2A>G rs1575719863
NM_000335.5(SCN5A):c.4296+10C>T rs1553694579
NM_000335.5(SCN5A):c.4296+6T>A rs794728934
NM_000335.5(SCN5A):c.4348G>C (p.Val1450Leu) rs876657996
NM_000335.5(SCN5A):c.4464G>T (p.Glu1488Asp) rs199473616
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.5006T>C (p.Ile1669Thr) rs397517955
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.567T>C (p.Leu189=) rs876657581
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.703+6A>G rs781104838
NM_000335.5(SCN5A):c.704-2A>G rs1553705586
NM_000335.5(SCN5A):c.756T>C (p.Asp252=) rs397517958
NM_000336.3(SCNN1B):c.1554G>A (p.Leu518=) rs1351010659
NM_000337.5(SGCD):c.-148_-122del27 rs727504478
NM_000337.5(SGCD):c.-372C>G rs7717393
NM_000337.5(SGCD):c.-412A>T rs7724969
NM_000337.6(SGCD):c.-94C>G rs13170573
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.6(SGCD):c.294+1G>A rs727503422
NM_000337.6(SGCD):c.383-11A>T rs727504584
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.839C>A (p.Ser280Tyr) rs397516337
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000360.4(TH):c.283del (p.Ala95fs) rs797045111
NM_000361.3(THBD):c.456C>T (p.Ile152=) rs1060499909
NM_000363.5(TNNI3):c.105C>A (p.Ala35=) rs397516339
NM_000363.5(TNNI3):c.109-15A>G rs779144176
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.127G>T (p.Ala43Ser) rs727505023
NM_000363.5(TNNI3):c.150+13G>T rs73617692
NM_000363.5(TNNI3):c.1A>G (p.Met1Val) rs397516341
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.258del (p.Leu88fs) rs727503507
NM_000363.5(TNNI3):c.401A>G (p.Asp134Gly) rs727503505
NM_000363.5(TNNI3):c.431T>C (p.Leu144Pro) rs121917760
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) rs104894724
NM_000363.5(TNNI3):c.462G>A (p.Met154Ile) rs397516350
NM_000363.5(TNNI3):c.464T>C (p.Met155Thr) rs397516352
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.5(TNNI3):c.488C>T (p.Ala163Val) rs727504367
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) rs727503504
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.5(TNNI3):c.525G>C (p.Gln175His) rs727503502
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del) rs397516351
NM_000363.5(TNNI3):c.538del (p.Asp180fs) rs876658023
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly) rs1060499912
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys) rs397516356
NM_000363.5(TNNI3):c.559G>A (p.Glu187Lys) rs727505069
NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr) rs727503500
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) rs727503499
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro) rs104894729
NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu) rs104894729
NM_000363.5(TNNI3):c.579G>C (p.Lys193Asn) rs397516358
NM_000363.5(TNNI3):c.583A>C (p.Ile195Leu) rs876658024
NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr) rs104894727
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) rs397516359
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr) rs727504365
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000363.5(TNNI3):c.613A>C (p.Lys205Gln) rs727505331
NM_000363.5(TNNI3):c.622T>A (p.Phe208Ile) rs876658025
NM_000363.5(TNNI3):c.624T>G (p.Phe208Leu) rs876658026
NM_000363.5(TNNI3):c.625G>A (p.Glu209Lys) rs727504268
NM_000363.5(TNNI3):c.65G>A (p.Arg22His) rs397516360
NM_000363.5(TNNI3):c.79C>G (p.Arg27Gly) rs1555864366
NM_000363.5(TNNI3):c.85T>G (p.Tyr29Asp) rs727503510
NM_000364.4(TNNT2):c.489+7dup rs397516467
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) rs1588299158
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.959_965del (p.Leu320fs) rs1588324615
NM_000369.5(TSHR):c.545+2_545+3del rs786204790
NM_000370.3(TTPA):c.19del (p.Gln7fs) rs760014795
NM_000371.4(TTR):c.113A>G (p.Asp38Gly) rs121918098
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.369C>G (p.Arg123=) rs1598846734
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs) rs781059624
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10556C>T (p.Thr3519Ile) rs746951119
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.26_33del (p.Leu9fs) rs1060499842
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.35del (p.Leu12fs)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.631C>T (p.Gln211Ter) rs143301836
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000393.5(COL5A2):c.2086-12del rs5837121
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs) rs568607741
NM_000414.4(HSD17B4):c.1126A>G (p.Thr376Ala) rs1750955154
NM_000414.4(HSD17B4):c.113-2248T>C rs876657476
NM_000414.4(HSD17B4):c.1450A>G (p.Ile484Val) rs775297352
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1809G>A (p.Val603=) rs1279792063
NM_000414.4(HSD17B4):c.2121+7T>C rs876657477
NM_000414.4(HSD17B4):c.643C>T (p.Pro215Ser) rs552078818
NM_000416.3(IFNGR1):c.85+10T>C rs7749390
NM_000426.4(LAMA2):c.5563-2A>G rs786204779
NM_000428.3(LTBP2):c.4597C>T (p.Gln1533Ter) rs1446110883
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.119G>T (p.Arg40Met) rs727503299
NM_000432.4(MYL2):c.141C>T (p.Asn47=) rs199474808
NM_000432.4(MYL2):c.142G>T (p.Asp48Tyr) rs727504405
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys) rs397516398
NM_000432.4(MYL2):c.237T>C (p.Phe79=) rs727503298
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.4(MYL2):c.260G>C (p.Gly87Ala) rs397516399
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000432.4(MYL2):c.275G>T (p.Gly92Val) rs727503297
NM_000432.4(MYL2):c.313G>A (p.Val105Met) rs397516401
NM_000432.4(MYL2):c.324T>C (p.Pro108=) rs397516403
NM_000432.4(MYL2):c.353+20del rs3833910
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp) rs397516404
NM_000432.4(MYL2):c.389T>G (p.Phe130Cys) rs727505071
NM_000432.4(MYL2):c.392C>G (p.Ser131Cys) rs727504357
NM_000432.4(MYL2):c.402G>C (p.Glu134Asp) rs727504408
NM_000432.4(MYL2):c.403-1G>T rs199474813
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) rs727504559
NM_000432.4(MYL2):c.429C>G (p.Pro143=) rs374328118
NM_000432.4(MYL2):c.45_46delinsT (p.Asn16fs) rs727504300
NM_000432.4(MYL2):c.480C>T (p.Thr160=) rs727505065
NM_000432.4(MYL2):c.482A>G (p.His161Arg) rs727503296
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.485G>A (p.Gly162Glu) rs397516406
NM_000432.4(MYL2):c.488A>C (p.Glu163Ala) rs397516407
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr) rs1060499882
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg) rs397516408
NM_000432.4(MYL2):c.82G>A (p.Glu28Lys) rs397516409
NM_000432.4(MYL2):c.84A>T (p.Glu28Asp) rs397516410
NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?))
NM_000441.1(SLC26A4):c.-66C>T rs17154282
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_000441.2(SLC26A4):c.1002-12A>G rs1554358492
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1253G>A (p.Gly418Glu) rs727505087
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1283C>T (p.Ala428Val) rs727504824
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1544+1G>A rs876657722
NM_000441.2(SLC26A4):c.1545-14_1545-12del rs397516419
NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs) rs111033317
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.1570A>C (p.Ile524Leu) rs1163642957
NM_000441.2(SLC26A4):c.1592A>C (p.Lys531Thr) rs111033191
NM_000441.2(SLC26A4):c.1614+1G>C rs111033312
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.1698C>G (p.Ile566Met) rs111033375
NM_000441.2(SLC26A4):c.1707+6T>C rs727505230
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys) rs368119540
NM_000441.2(SLC26A4):c.1969A>T (p.Ser657Cys) rs876658003
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2029C>A (p.Arg677=) rs397516426
NM_000441.2(SLC26A4):c.2063T>C (p.Val688Ala) rs727503429
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala) rs111033443
NM_000441.2(SLC26A4):c.209C>T (p.Pro70Leu) rs111033413
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) rs145805875
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2188C>T (p.Gln730Ter) rs397516428
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) rs876657723
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly) rs111033344
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.397_398delinsA (p.Ser133fs) rs111033400
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000441.2(SLC26A4):c.521C>G (p.Thr174Ser) rs876658004
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.75G>C (p.Pro25=) rs570668954
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000455.5(STK11):c.1258G>A (p.Ala420Thr) rs762482152
NM_000455.5(STK11):c.143A>G (p.Lys48Arg) rs766776431
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.838_839delinsGT (p.Pro280Val) rs786205863
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1210-34TG[10] rs3832534
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1680-871_1680-870delinsGA rs727504811
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000492.4(CFTR):c.744-33GATT[6] rs1805171
NM_000494.4(COL17A1):c.2435-6_2440del rs797045084
NM_000494.4(COL17A1):c.3821_3829delinsC (p.Gly1274fs) rs1210666598
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) rs63748989
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
NM_000501.2(ELN):c.1153delG rs727503031
NM_000501.4(ELN):c.1096+12TG[17] rs10579871
NM_000501.4(ELN):c.1097-1G>A rs727503029
NM_000501.4(ELN):c.1113dup (p.Ala372fs) rs730880355
NM_000501.4(ELN):c.1208del (p.Gly403fs) rs727504433
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.131del (p.Pro44fs) rs727503023
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1733del (p.Pro578fs) rs727503782
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1744del (p.Ala582fs) rs727503783
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) rs727503033
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.1918+1G>A rs727503035
NM_000501.4(ELN):c.435del (p.Leu146fs) rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs) rs727503022
NM_000501.4(ELN):c.469+5G>C rs727503025
NM_000501.4(ELN):c.608del (p.Pro203fs) rs727504581
NM_000501.4(ELN):c.634A>T (p.Lys212Ter) rs1554672587
NM_000501.4(ELN):c.685+1_685+5dup rs876657806
NM_000501.4(ELN):c.741del (p.Thr248fs) rs727503026
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.889+2T>C rs727504419
NM_000501.4(ELN):c.890-2A>G rs727504434
NM_000503.6(EYA1):c.1090G>T (p.Glu364Ter) rs876657689
NM_000503.6(EYA1):c.1122del (p.Leu374fs) rs397517916
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg) rs727503047
NM_000503.6(EYA1):c.1195dup (p.Leu399fs) rs1585820240
NM_000503.6(EYA1):c.1295G>A (p.Arg432Lys) rs727503046
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1360+2C>T rs727503045
NM_000503.6(EYA1):c.1361-1G>T rs397517917
NM_000503.6(EYA1):c.1402A>G (p.Arg468Gly) rs727503044
NM_000503.6(EYA1):c.1475+1G>C rs727503042
NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn) rs397517918
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1697_1698insT (p.Lys566fs) rs397517919
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.241C>T (p.Gln81Ter) rs1554550637
NM_000503.6(EYA1):c.396_406del (p.Gln132fs) rs876657690
NM_000503.6(EYA1):c.428G>A (p.Trp143Ter) rs727504494
NM_000503.6(EYA1):c.470C>T (p.Ser157Leu) rs1586333305
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg) rs200923204
NM_000503.6(EYA1):c.88A>G (p.Ile30Val) rs1554565600
NM_000503.6(EYA1):c.896C>A (p.Ser299Ter) rs876657691
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.967-13T>C rs749461885
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1428dup (p.Asp477fs) rs876657697
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2259dup (p.Gly754fs) rs1555808118
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp) rs879254498
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter) rs875989899
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs) rs1554297962
NM_000535.7(PMS2):c.1304A>C (p.His435Pro) rs1554297915
NM_000535.7(PMS2):c.1378G>C (p.Gly460Arg) rs1554297825
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu) rs1554295980
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr) rs1554294462
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter) rs1554294448
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.741del (p.Ser248fs) rs1583374709
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.780del (p.Asp261fs) rs587779344
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu) rs1402108044
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter) rs371455345
NM_000540.3(RYR1):c.4411G>T (p.Val1471Leu) rs767558988
NM_000540.3(RYR1):c.8156A>T (p.Tyr2719Phe) rs1555785252
NM_000540.3(RYR1):c.957+5_957+29del rs794726982
NM_000542.5(SFTPB):c.29TGC[4] (p.Leu14del) rs147057701
NM_000542.5(SFTPB):c.741G>A (p.Gln247=) rs727503418
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000545.8(HNF1A):c.539C>T (p.Ala180Val) rs1060499866
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.672+2T>A rs1555525703
NM_000546.6(TP53):c.718_741del (p.Ser240_Asn247del) rs397516437
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.758C>A (p.Thr253Asn) rs1555525465
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.6(TP53):c.85AAC[1] (p.Asn30del) rs587782270
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu) rs368878445
NM_000548.5(TSC2):c.3214del (p.Ser1072fs) rs137854106
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) rs137854329
NM_000548.5(TSC2):c.481+1G>T rs45488500
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.593T>C (p.Met198Thr) rs45517114
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) rs45517115
NM_000548.5(TSC2):c.871dup (p.Leu291fs) rs137854052
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000551.3(VHL):c.(?_464)_642+?del
NM_000551.3(VHL):c.-75_-55del rs727503744
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.408del (p.Phe136fs) rs397516442
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.463+2T>G rs5030814
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000552.5(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000562.3(C8A):c.1454G>T (p.Arg485Leu) rs1620075
NM_000569.8(FCGR3A):c.197T>G (p.Leu66Arg) rs10127939
NM_000569.8(FCGR3A):c.316A>G (p.Ile106Val) rs148181339
NM_000601.6(HGF):c.1041-12T>C rs546227025
NM_000601.6(HGF):c.1454T>C (p.Ile485Thr) rs397516446
NM_000601.6(HGF):c.754G>C (p.Asp252His) rs752123971
NM_000601.6(HGF):c.865+410dup rs534250947
NM_000601.6(HGF):c.983G>T (p.Arg328Leu) rs374484762
NM_000603.5(NOS3):c.1998C>G (p.Ala666=) rs2566514
NM_000619.3(IFNG):c.115-3del rs2234686
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter) rs267606639
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000771.3(CYP2C9):c.[430C=;1075A=]
NM_000771.3(CYP2C9):c.[430C=;1075A>C]
NM_000771.3(CYP2C9):c.[430C>T;1075A=]
NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter) rs2060639501
NM_000791.4(DHFR):c.-442_-434del rs3045983
NM_000809.4(GABRA4):c.87-21dup rs3215202
NM_000888.5(ITGB6):c.676del (p.Ile226fs) rs1179156887
NM_000899.5(KITLG):c.130-11dup rs11428619
NM_000899.5(KITLG):c.15+2T>A rs1592593751
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe) rs775858617
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT rs397516362
NM_001002860.4(BTBD7):c.2122-13del rs55659625
NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs) rs1200683561
NM_001004334.4(GPR179):c.3138_3139del (p.Glu1046fs) rs776189685
NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer) rs886043488
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001004450.3(OR1B1):c.35dup (p.Leu14Phefs) rs11421222
NM_001004482.1(OR13C5):c.243G>C (p.Thr81=) rs75081605
NM_001005161.3(OR52B4):c.121del (p.Leu41fs) rs11310407
NM_001005242.3(PKP2):c.1034+1G>T rs869025496
NM_001005242.3(PKP2):c.1034+1del rs1555148011
NM_001005242.3(PKP2):c.1034+4del rs397516983
NM_001005242.3(PKP2):c.1035-1G>A rs1555147210
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1271T>C (p.Phe424Ser) rs397516990
NM_001005242.3(PKP2):c.1287C>T (p.Asn429=) rs727505239
NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer) rs876657659
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1379-2049A>G rs727505257
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg) rs397516998
NM_001005242.3(PKP2):c.1448T>C (p.Leu483Pro) rs397517000
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.1577del (p.Ala526fs) rs397517005
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_001005242.3(PKP2):c.1624C>T (p.Leu542=) rs397517007
NM_001005242.3(PKP2):c.1627del (p.Val543fs) rs397517008
NM_001005242.3(PKP2):c.1628del (p.Val543fs) rs397517009
NM_001005242.3(PKP2):c.1648A>G (p.Ile550Val) rs727503371
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1708del (p.Leu570fs) rs1555142994
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter) rs397517015
NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter) rs397517017
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe) rs397517018
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu) rs397517019
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) rs397517022
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg) rs145553222
NM_001005242.3(PKP2):c.2268C>T (p.Asn756=) rs876657564
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2419del (p.Thr807fs) rs727504786
NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys) rs727505312
NM_001005242.3(PKP2):c.2445+1G>A rs1060499891
NM_001005242.3(PKP2):c.2446-10dup rs397517024
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.269_272del (p.Leu90fs) rs397517025
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.654_655del (p.His218fs) rs1591828796
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_001005242.3(PKP2):c.811G>A (p.Val271Ile) rs876657953
NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs) rs397517030
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_001005242.3(PKP2):c.968_975dup (p.Ala326fs) rs1555148032
NM_001006630.2(CHRM2):c.52_54del (p.Tyr18del) rs876657763
NM_001006630.2(CHRM2):c.794C>T (p.Ala265Val) rs1554437349
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001008844.3(DSP):c.3582+1242dup rs727503003
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) rs781627051
NM_001010892.3(RSPH4A):c.-16_-12delinsCACGCCCCTTTCATCCA rs727504884
NM_001012759.3(CTU2):c.1097+1GT[4] rs149847195
NM_001013694.3(SRRD):c.108GAGAGAGGCGGCGCCCCGGGG[1] (p.30REAAPRG[2]) rs66831137
NM_001013703.4(EIF2AK4):c.2205CGA[5] (p.Asp736_Asp737dup) rs377237751
NM_001013703.4(EIF2AK4):c.4593del (p.Ile1533fs) rs1327297003
NM_001015878.2(AURKC):c.94_101dup (p.Met35fs) rs749123022
NM_001015880.2(PAPSS2):c.1662_1666del (p.Phe555fs) rs797045099
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001018005.2(TPM1):c.*5_*8del rs786204415
NM_001018005.2(TPM1):c.115-298G>A rs786205439
NM_001018005.2(TPM1):c.14AGA[4] (p.Lys7dup) rs730881155
NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn) rs397516363
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) rs397516364
NM_001018005.2(TPM1):c.240+1G>A rs730881146
NM_001018005.2(TPM1):c.240+4426G>T rs1060499913
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu) rs369617788
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.2del (p.Met1fs) rs397516366
NM_001018005.2(TPM1):c.305C>A (p.Ala102Asp) rs397516367
NM_001018005.2(TPM1):c.321A>C (p.Ala107=) rs397516368
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) rs397516370
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001018005.2(TPM1):c.364G>A (p.Glu122Lys) rs876658031
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.416A>T (p.Glu139Val) rs727504389
NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) rs397516371
NM_001018005.2(TPM1):c.424G>A (p.Glu142Lys) rs1555408649
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.458A>G (p.His153Arg) rs727505043
NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn) rs199476301
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr) rs876657662
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln) rs727504264
NM_001018005.2(TPM1):c.563+10C>T rs397516377
NM_001018005.2(TPM1):c.563+249C>T rs397516379
NM_001018005.2(TPM1):c.563+254A>G rs397516380
NM_001018005.2(TPM1):c.563+308A>C rs1555409301
NM_001018005.2(TPM1):c.563+348G>T rs397516381
NM_001018005.2(TPM1):c.563+6C>A rs397516378
NM_001018005.2(TPM1):c.563_563+1insCCAA rs1060499914
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.58G>A (p.Asp20Asn) rs727504391
NM_001018005.2(TPM1):c.603G>C (p.Thr201=) rs397516485
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.632C>G (p.Ala211Gly) rs397516487
NM_001018005.2(TPM1):c.639+13del rs397516488
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.676A>C (p.Lys226Gln) rs397516383
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001018005.2(TPM1):c.692A>G (p.Lys231Arg) rs397516385
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.734C>T (p.Ser245Leu) rs397516388
NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu) rs727504354
NM_001018005.2(TPM1):c.775G>A (p.Glu259Lys) rs397516389
NM_001018005.2(TPM1):c.790A>G (p.Lys264Glu) rs397516390
NM_001018005.2(TPM1):c.802A>G (p.Lys268Glu) rs1555410433
NM_001018005.2(TPM1):c.815A>C (p.Glu272Ala) rs727503519
NM_001018005.2(TPM1):c.830C>G (p.Ala277Gly) rs199476320
NM_001018005.2(TPM1):c.835A>C (p.Asn279His) rs397516392
NM_001018005.2(TPM1):c.851+15A>G rs876658030
NM_001018005.2(TPM1):c.97G>A (p.Glu33Lys) rs397516397
NM_001018116.2(CAVIN4):c.168G>C (p.Glu56Asp) rs947295697
NM_001018116.2(CAVIN4):c.702_722del (p.234_240LRQSGER[2]) rs876657508
NM_001018116.2(CAVIN4):c.868A>C (p.Arg290=) rs876657509
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001031679.3(MSRB3):c.-118C>T rs200778091
NM_001031679.3(MSRB3):c.264-1G>A rs201306709
NM_001031679.3(MSRB3):c.310G>A (p.Asp104Asn) rs727503162
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032283.3(TMPO):c.1079+5dup rs34449077
NM_001032283.3(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_001032283.3(TMPO):c.565+2042A>C rs397516842
NM_001032283.3(TMPO):c.565+2296C>T rs397516843
NM_001032283.3(TMPO):c.565+2461_565+2463del rs727503491
NM_001032283.3(TMPO):c.663+13T>G rs727504798
NM_001032283.3(TMPO):c.681A>G (p.Gly227=) rs727504733
NM_001032283.3(TMPO):c.77C>T (p.Thr26Met) rs397516494
NM_001032283.3(TMPO):c.991-14_991-11del rs397516495
NM_001034842.5(PTCHD3):c.923dup (p.Ser309fs) rs75297921
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001034853.2(RPGR):c.2254del (p.Glu752fs) rs1060499897
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del) rs199663434
NM_001034853.2(RPGR):c.2956_2957insA (p.Gly986fs) rs1060499896
NM_001034853.2(RPGR):c.3060_3071del (p.1021_1024VEGE[1]) rs199896738
NM_001035.2(RYR2):c.(?_169)_(273_?)del
NM_001035.2(RYR2):c.(?_49)_(168_?)del
NM_001035.2(RYR2):c.14091-11dup rs35563566
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.10127T>A (p.Phe3376Tyr) rs876657983
NM_001035.3(RYR2):c.10325C>T (p.Ala3442Val) rs727503403
NM_001035.3(RYR2):c.10427T>C (p.Ile3476Thr) rs764621718
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser) rs201749277
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys) rs201749277
NM_001035.3(RYR2):c.1056T>C (p.Ser352=) rs876657573
NM_001035.3(RYR2):c.10602A>G (p.Leu3534=) rs397516498
NM_001035.3(RYR2):c.11092-11del rs397516499
NM_001035.3(RYR2):c.11092-11dup rs397516499
NM_001035.3(RYR2):c.11092-12_11092-11del rs397516499
NM_001035.3(RYR2):c.11217G>T (p.Met3739Ile) rs397516502
NM_001035.3(RYR2):c.11385C>A (p.Gly3795=) rs919989129
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser) rs397516504
NM_001035.3(RYR2):c.11457G>A (p.Met3819Ile) rs727503405
NM_001035.3(RYR2):c.1170+15A>G rs727504810
NM_001035.3(RYR2):c.11775+13del rs397516507
NM_001035.3(RYR2):c.1197G>A (p.Met399Ile) rs727503397
NM_001035.3(RYR2):c.12139G>C (p.Asp4047His) rs727505103
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) rs397516508
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=) rs372943408
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.13071C>T (p.Ala4357=) rs876657574
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser) rs397516511
NM_001035.3(RYR2):c.14091-11del rs35563566
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly) rs397516513
NM_001035.3(RYR2):c.14152-16dup rs727503406
NM_001035.3(RYR2):c.14440A>G (p.Met4814Val) rs397516516
NM_001035.3(RYR2):c.14464C>G (p.Arg4822Gly) rs876657986
NM_001035.3(RYR2):c.1446G>A (p.Leu482=) rs397516517
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14591-9del rs876657987
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.1477-11dup rs397516518
NM_001035.3(RYR2):c.1837G>A (p.Val613Ile) rs397516520
NM_001035.3(RYR2):c.2334G>A (p.Met778Ile) rs397516521
NM_001035.3(RYR2):c.2396+12T>A rs876657576
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala) rs754520058
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile) rs727505044
NM_001035.3(RYR2):c.281A>T (p.Asp94Val) rs876657989
NM_001035.3(RYR2):c.2871T>C (p.Ala957=) rs771821687
NM_001035.3(RYR2):c.2881G>T (p.Val961Leu) rs876657990
NM_001035.3(RYR2):c.308A>C (p.Lys103Thr) rs727505209
NM_001035.3(RYR2):c.3128A>G (p.Lys1043Arg) rs727504939
NM_001035.3(RYR2):c.3567A>G (p.Glu1189=) rs368959706
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly) rs149760466
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.3656A>C (p.Lys1219Thr) rs727505149
NM_001035.3(RYR2):c.375T>C (p.Tyr125=) rs397516528
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.4125T>C (p.Asp1375=) rs397516529
NM_001035.3(RYR2):c.4160+10T>C rs397516530
NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp) rs868750680
NM_001035.3(RYR2):c.4395A>C (p.Val1465=) rs1308165341
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.4770C>T (p.Phe1590=) rs397516536
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.3(RYR2):c.4950G>A (p.Leu1650=) rs376251968
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe) rs749434532
NM_001035.3(RYR2):c.5005A>G (p.Asn1669Asp) rs397516538
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.5190G>A (p.Thr1730=) rs397516541
NM_001035.3(RYR2):c.5485C>G (p.Leu1829Val) rs876657991
NM_001035.3(RYR2):c.5543C>T (p.Pro1848Leu) rs397516543
NM_001035.3(RYR2):c.5609T>G (p.Val1870Gly) rs1553522588
NM_001035.3(RYR2):c.5616T>C (p.Asp1872=) rs765786213
NM_001035.3(RYR2):c.5639A>T (p.Glu1880Val) rs727504792
NM_001035.3(RYR2):c.570G>T (p.Arg190Ser) rs397516544
NM_001035.3(RYR2):c.6250A>G (p.Met2084Val) rs1553531464
NM_001035.3(RYR2):c.6380G>A (p.Arg2127Gln) rs397516547
NM_001035.3(RYR2):c.6555+8C>G rs1759122
NM_001035.3(RYR2):c.6738G>A (p.Ser2246=) rs368207198
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu) rs727503401
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.7287G>A (p.Leu2429=) rs876657578
NM_001035.3(RYR2):c.7513-8T>G rs727503402
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val) rs752607318
NM_001035.3(RYR2):c.8209-7_8209-4del rs876657992
NM_001035.3(RYR2):c.8342C>G (p.Thr2781Ser) rs369963696
NM_001035.3(RYR2):c.8426A>C (p.Gln2809Pro) rs397516551
NM_001035.3(RYR2):c.9129-10T>A rs876657993
NM_001035.3(RYR2):c.9198G>A (p.Glu3066=) rs727504729
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe) rs397516552
NM_001037.5(SCN1B):c.448+129G>T rs1060499899
NM_001037.5(SCN1B):c.67del (p.Glu23fs) rs1060499898
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001038.6(SCNN1A):c.942del (p.Asn315fs) rs1555112332
NM_001038603.3(MARVELD2):c.1147-9T>G rs299099
NM_001038603.3(MARVELD2):c.1286C>T (p.Pro429Leu) rs1554047535
NM_001038603.3(MARVELD2):c.156A>T (p.Pro52=) rs138816138
NM_001038603.3(MARVELD2):c.504A>G (p.Thr168=) rs568560843
NM_001038603.3(MARVELD2):c.919G>A (p.Ala307Thr) rs779068129
NM_001039.4(SCNN1G):c.1318C>T (p.Arg440Ter) rs764425655
NM_001039141.3(TRIOBP):c.111C>G (p.Tyr37Ter) rs876658035
NM_001039141.3(TRIOBP):c.202A>T (p.Thr68Ser) rs200529550
NM_001039141.3(TRIOBP):c.301G>A (p.Ala101Thr) rs752612856
NM_001039141.3(TRIOBP):c.3948G>A (p.Arg1316=) rs876658036
NM_001039141.3(TRIOBP):c.4101G>A (p.Arg1367=) rs727505244
NM_001039141.3(TRIOBP):c.4244G>A (p.Ser1415Asn) rs727505184
NM_001039141.3(TRIOBP):c.4271T>C (p.Leu1424Pro) rs727505298
NM_001039141.3(TRIOBP):c.4572G>A (p.Glu1524=) rs876657593
NM_001039141.3(TRIOBP):c.4621G>A (p.Ala1541Thr) rs727504784
NM_001039141.3(TRIOBP):c.4645C>T (p.Arg1549Cys) rs727505081
NM_001039141.3(TRIOBP):c.4703C>G (p.Ala1568Gly) rs569914227
NM_001039141.3(TRIOBP):c.5117A>G (p.Glu1706Gly) rs727503522
NM_001039141.3(TRIOBP):c.5193G>C (p.Lys1731Asn) rs1207596715
NM_001039141.3(TRIOBP):c.5358G>A (p.Ser1786=) rs139435527
NM_001039141.3(TRIOBP):c.5358G>T (p.Ser1786=) rs139435527
NM_001039141.3(TRIOBP):c.5890C>G (p.Arg1964Gly) rs565618931
NM_001039141.3(TRIOBP):c.5936T>C (p.Leu1979Pro) rs727503524
NM_001039141.3(TRIOBP):c.6205G>A (p.Glu2069Lys) rs777449279
NM_001039141.3(TRIOBP):c.6272G>C (p.Ser2091Thr) rs78758968
NM_001039141.3(TRIOBP):c.6283T>C (p.Ser2095Pro) rs369453731
NM_001039141.3(TRIOBP):c.6324+214G>A rs1601661052
NM_001039141.3(TRIOBP):c.6324+9G>A rs376601715
NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter) rs727503528
NM_001039141.3(TRIOBP):c.6936+13G>T rs727503529
NM_001039141.3(TRIOBP):c.6975T>C (p.Tyr2325=) rs1601672944
NM_001039213.4(CEACAM16):c.*4C>A rs199656542
NM_001039213.4(CEACAM16):c.1215= (p.Thr405=) rs61744497
NM_001039213.4(CEACAM16):c.1249G>C (p.Val417Leu) rs199597608
NM_001039213.4(CEACAM16):c.246G>A (p.Thr82=) rs761814983
NM_001039213.4(CEACAM16):c.35G>A (p.Ser12Asn) rs1040792995
NM_001039213.4(CEACAM16):c.626T>A (p.Val209Asp) rs876657762
NM_001039213.4(CEACAM16):c.941-8C>T rs876657441
NM_001039651.2(SAPCD1):c.296C>T (p.Pro99Leu) rs6905572
NM_001039876.1(SYNE4):c.(?_1)_(1215_?)del
NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser) rs200948076
NM_001039876.3(SYNE4):c.1157G>A (p.Arg386Gln) rs200818193
NM_001039876.3(SYNE4):c.411G>A (p.Met137Ile) rs760007740
NM_001039876.3(SYNE4):c.59C>T (p.Pro20Leu) rs1450675140
NM_001041.4(SI):c.2159+2T>G rs1553775177
NM_001042413.2(GLIS3):c.571_572dup (p.Leu191_Asn192insTer) rs1586744173
NM_001042475.3(CEP85L):c.1020+6445A>T rs397516782
NM_001042492.2(NF1):c.(?_-50)_(*68_?)del
NM_001042492.3(NF1):c.1450C>T (p.Leu484=) rs876657544
NM_001042492.3(NF1):c.204+1G>T rs886039548
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_001042492.3(NF1):c.2410-12T>C rs876657932
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3060del (p.Glu1020_Val1021insTer) rs1555614521
NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val) rs1555619011
NM_001042492.3(NF1):c.4752C>T (p.Phe1584=) rs876657545
NM_001042492.3(NF1):c.4835G>T (p.Arg1612Met) rs1555619423
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met) rs1555533607
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6161T>A (p.Met2054Lys) rs1555534665
NM_001042492.3(NF1):c.6366A>G (p.Thr2122=) rs876657547
NM_001042492.3(NF1):c.6617C>T (p.Thr2206Ile) rs1555534885
NM_001042492.3(NF1):c.6732G>A (p.Leu2244=) rs876657548
NM_001042492.3(NF1):c.6921+10G>A rs767166725
NM_001042492.3(NF1):c.7190-33TTGT[5] rs149197458
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe) rs786202579
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg) rs876657933
NM_001042492.3(NF1):c.839T>C (p.Ile280Thr) rs1555608976
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr) rs199878086
NM_001042545.2(LTBP4):c.1427-13C>G rs727505005
NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=) rs2077407
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001042545.2(LTBP4):c.4018C>T (p.Pro1340Ser) rs370767377
NM_001042545.2(LTBP4):c.4441T>C (p.Cys1481Arg) rs876657866
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup) rs1220133830
NM_001042702.5(PJVK):c.195C>G (p.Asp65Glu) rs727504946
NM_001042702.5(PJVK):c.1A>G (p.Met1Val) rs1697832820
NM_001042702.5(PJVK):c.360C>A (p.Thr120=) rs876657450
NM_001042702.5(PJVK):c.478A>G (p.Met160Val) rs757161569
NM_001042702.5(PJVK):c.683C>T (p.Ser228Leu) rs727504604
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly) rs17304212
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys) rs17304212
NM_001042702.5(PJVK):c.983G>A (p.Cys328Tyr) rs727504487
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe) rs763862261
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.115+2_115+3dup rs1553131287
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.203T>A (p.Phe68Tyr) rs750954949
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.524G>C (p.Arg175Pro) rs538383136
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.827G>A (p.Ser276Asn) rs1553127574
NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu) rs147718169
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001079.4(ZAP70):c.1409T>G (p.Val470Gly) rs1060499918
NM_001079668.3(NKX2-1):c.584G>A (p.Arg195Gln) rs1555349228
NM_001079802.2(FKTN):c.528dup (p.His177fs) rs1588112379
NM_001079866.2(BCS1L):c.373G>A (p.Asp125Asn) rs1553596645
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001080467.3(MYO5B):c.2004-13del rs56278513
NM_001080467.3(MYO5B):c.2004-14_2004-13del rs56278513
NM_001080467.3(MYO5B):c.4315+5G>C rs488890
NM_001080476.2(GRXCR1):c.(?_-62)_*(153_?)dup
NM_001080476.3(GRXCR1):c.234T>C (p.Asp78=) rs376086928
NM_001080476.3(GRXCR1):c.25G>A (p.Glu9Lys) rs78136490
NM_001080476.3(GRXCR1):c.58A>G (p.Ile20Val) rs1746274698
NM_001080476.3(GRXCR1):c.594_597dup (p.Val200fs) rs1553941938
NM_001080476.3(GRXCR1):c.597T>A (p.Pro199=) rs1553941946
NM_001080476.3(GRXCR1):c.627+8A>C rs10213360
NM_001080476.3(GRXCR1):c.627+8A>T rs10213360
NM_001080476.3(GRXCR1):c.628-11C>T rs727503089
NM_001080476.3(GRXCR1):c.785G>T (p.Arg262Leu) rs146696590
NM_001080476.3(GRXCR1):c.822T>C (p.Cys274=) rs1441618706
NM_001080998.2(FRG2B):c.31C>T (p.His11Tyr) rs79777505
NM_001080998.2(FRG2B):c.33C>G (p.His11Gln) rs75987380
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter) rs1589233357
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs) rs764201220
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1609_1611+4delinsCCA rs876657633
NM_001089.3(ABCA3):c.2053-1G>C rs1596842934
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=) rs138901284
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) rs121909185
NM_001093.4(ACACB):c.2144+10TCCT[13] rs373209583
NM_001098668.4(SFTPA2):c.648T>C (p.Pro216=) rs17096771
NM_001098671.2(RASGRP2):c.81C>T (p.Ser27=) rs1060499893
NM_001099402.2(CCNK):c.1446G>C (p.Pro482=) rs746815273
NM_001099402.2(CCNK):c.1524A>C (p.Pro508=) rs776290356
NM_001099402.2(CCNK):c.1530A>C (p.Pro510=) rs759190666
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter) rs765669597
NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) rs121909525
NM_001100.4(ACTA1):c.809-14G>C rs6673359
NM_001100.4(ACTA1):c.809-14delinsCC rs876657420
NM_001100.4(ACTA1):c.809-35_809-14delinsAGCTTCTGCTCACGCTCCCCCC rs1553255366
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101648.2(NPC1L1):c.3086T>A (p.Leu1029Gln) rs1060499885
NM_001103.4(ACTN2):c.1104G>A (p.Val368=) rs397516563
NM_001103.4(ACTN2):c.1108-10A>G rs397516564
NM_001103.4(ACTN2):c.1278G>A (p.Gln426=) rs397516565
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.4(ACTN2):c.1361A>C (p.His454Pro) rs727505063
NM_001103.4(ACTN2):c.1381A>G (p.Ile461Val) rs876657742
NM_001103.4(ACTN2):c.1411C>G (p.Leu471Val) rs397516568
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1460G>T (p.Cys487Phe) rs727504619
NM_001103.4(ACTN2):c.1593G>A (p.Trp531Ter) rs397516570
NM_001103.4(ACTN2):c.1839+5G>C rs797045081
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.1975-6C>A rs201255023
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001103.4(ACTN2):c.2506C>A (p.Arg836=) rs727502887
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.4(ACTN2):c.324C>A (p.Ala108=) rs727502885
NM_001103.4(ACTN2):c.343G>A (p.Val115Met) rs397516579
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.4(ACTN2):c.578_583del (p.191HR[1]) rs397516581
NM_001103.4(ACTN2):c.655G>A (p.Ala219Thr) rs1246542277
NM_001103.4(ACTN2):c.736A>G (p.Met246Val) rs397516582
NM_001103.4(ACTN2):c.786C>T (p.Ala262=) rs201636760
NM_001103.4(ACTN2):c.826A>G (p.Asn276Asp) rs876657743
NM_001103.4(ACTN2):c.829C>G (p.Gln277Glu) rs1553302181
NM_001103.4(ACTN2):c.93C>T (p.Leu31=) rs397516586
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val) rs727503116
NM_001105206.3(LAMA4):c.1374G>A (p.Glu458=) rs397516717
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu) rs727503115
NM_001105206.3(LAMA4):c.1551+5A>G rs1554342189
NM_001105206.3(LAMA4):c.1647A>C (p.Ser549=) rs149459643
NM_001105206.3(LAMA4):c.1922C>G (p.Ala641Gly) rs397516718
NM_001105206.3(LAMA4):c.195+4_195+5del rs397516719
NM_001105206.3(LAMA4):c.2640G>T (p.Gln880His) rs397516725
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001105206.3(LAMA4):c.2758G>A (p.Asp920Asn) rs727503112
NM_001105206.3(LAMA4):c.2977-5C>T rs1554332652
NM_001105206.3(LAMA4):c.3434A>G (p.Asn1145Ser) rs377528058
NM_001105206.3(LAMA4):c.3515A>G (p.Asp1172Gly) rs1554330855
NM_001105206.3(LAMA4):c.4386C>T (p.Ser1462=) rs397516729
NM_001105206.3(LAMA4):c.4446T>G (p.Phe1482Leu) rs397516730
NM_001105206.3(LAMA4):c.4455A>C (p.Leu1485Phe) rs1554326282
NM_001105206.3(LAMA4):c.4683_4684del (p.Arg1562fs) rs1554325284
NM_001105206.3(LAMA4):c.4696C>T (p.Arg1566Ter) rs1554325261
NM_001105206.3(LAMA4):c.5002T>C (p.Leu1668=) rs369799390
NM_001105206.3(LAMA4):c.5267G>A (p.Gly1756Glu) rs782244308
NM_001105206.3(LAMA4):c.848_849= (p.Asp283=) rs71543223
NM_001105247.2(ARMC5):c.1767_1771dup (p.Leu591fs) rs1596605496
NM_001110219.3(GJB6):c.264G>A (p.Ala88=) rs758356020
NM_001110219.3(GJB6):c.60_61delinsT (p.Lys22fs) rs397517206
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001122606.1(LAMP2):c.(?_1094)_(1236_?)del
NM_001122659.3(EDNRB):c.1284C>A (p.His428Gln) rs754498240
NM_001122659.3(EDNRB):c.618G>A (p.Trp206Ter) rs876657688
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile) rs77132068
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) rs231399
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) rs786204784
NM_001127217.3(SMAD9):c.995_996del (p.Ile332fs) rs1375423378
NM_001127222.2(CACNA1A):c.6303+1G>A rs1600088360
NM_001127255.2(NLRP7):c.1137G>A (p.Lys379=) rs10418277
NM_001127255.2(NLRP7):c.336dup (p.Glu113Glyfs) rs104895553
NM_001127366.2(PAX3):c.(?_-77)_(583_?)+547del
NM_001127453.2(GSDME):c.1213G>A (p.Gly405Ser) rs566450742
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr) rs61731036
NM_001127453.2(GSDME):c.1355T>C (p.Phe452Ser) rs727502953
NM_001127453.2(GSDME):c.1416G>A (p.Lys472=) rs727504956
NM_001127453.2(GSDME):c.212-6T>A rs876657773
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr) rs754554
NM_001127453.2(GSDME):c.570G>A (p.Thr190=) rs876657449
NM_001127453.2(GSDME):c.656A>G (p.Tyr219Cys) rs1554325967
NM_001127453.2(GSDME):c.938T>C (p.Ile313Thr) rs1584052885
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg) rs373787249
NM_001127510.3(APC):c.1917dup (p.Arg640fs) rs397515732
NM_001127511.3(APC):c.137C>T (p.Thr46Ile) rs1016971418
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128228.3(TPRN):c.1730_1732del (p.Lys577del) rs769707569
NM_001128228.3(TPRN):c.1818GGA[10] (p.Glu621dup) rs376810326
NM_001128228.3(TPRN):c.1818GGA[11] (p.Glu620_Glu621dup) rs376810326
NM_001128228.3(TPRN):c.1818GGA[7] (p.Glu620_Glu621del) rs376810326
NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del) rs376810326
NM_001128228.3(TPRN):c.1845_1847del (p.Glu621del) rs727503521
NM_001128228.3(TPRN):c.2073+10G>A rs368771637
NM_001128228.3(TPRN):c.2074-5T>C rs1564383004
NM_001128228.3(TPRN):c.2083G>A (p.Ala695Thr) rs876658034
NM_001128840.3(CACNA1D):c.1508G>A (p.Arg503Gln) rs941177114
NM_001128840.3(CACNA1D):c.1956G>T (p.Ser652=) rs746739986
NM_001128840.3(CACNA1D):c.2277A>G (p.Glu759=) rs770074186
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr) rs147933585
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) rs147146258
NM_001128840.3(CACNA1D):c.450T>C (p.Pro150=) rs876657433
NM_001128840.3(CACNA1D):c.4624G>C (p.Gly1542Arg) rs766813584
NM_001128840.3(CACNA1D):c.5408+4del rs1553687972
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=) rs776968811
NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=) rs767458712
NM_001128840.3(CACNA1D):c.6044G>C (p.Ser2015Thr) rs766889110
NM_001128840.3(CACNA1D):c.6050C>T (p.Pro2017Leu) rs876657749
NM_001128840.3(CACNA1D):c.6162G>A (p.Lys2054=) rs876657434
NM_001128840.3(CACNA1D):c.74A>G (p.Asn25Ser) rs1415040812
NM_001130144.3(LTBP3):c.76CTG[12] (p.Leu34_Leu35dup) rs71036212
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001134363.3(RBM20):c.-16G>T rs876657975
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His) rs372999896
NM_001134363.3(RBM20):c.1190A>C (p.His397Pro) rs727505262
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1266T>C (p.Phe422=) rs727504737
NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser) rs1554886574
NM_001134363.3(RBM20):c.1516G>A (p.Val506Met) rs1590677676
NM_001134363.3(RBM20):c.1519G>A (p.Gly507Arg) rs727503386
NM_001134363.3(RBM20):c.1612C>T (p.Leu538=) rs876657569
NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys) rs794729147
NM_001134363.3(RBM20):c.1779A>T (p.Arg593Ser) rs876657973
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2001T>C (p.Ala667=) rs1844780588
NM_001134363.3(RBM20):c.2161G>T (p.Ala721Ser) rs876657976
NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del) rs876657977
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2286dup (p.Glu763fs) rs876657978
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001134363.3(RBM20):c.2517T>C (p.Asp839=) rs727504467
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.2723T>C (p.Leu908Pro) rs397516604
NM_001134363.3(RBM20):c.2727_2741del (p.Thr910_Val914del) rs876657979
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro) rs397516606
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) rs727504859
NM_001134363.3(RBM20):c.2784G>A (p.Glu928=) rs397516609
NM_001134363.3(RBM20):c.2844T>C (p.Cys948=) rs727503389
NM_001134363.3(RBM20):c.2855C>T (p.Thr952Ile) rs727503390
NM_001134363.3(RBM20):c.3031G>A (p.Ala1011Thr) rs727503391
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3451+10AC[2] rs397516615
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys) rs727504583
NM_001134363.3(RBM20):c.441C>A (p.His147Gln) rs397516619
NM_001134363.3(RBM20):c.465T>C (p.His155=) rs397516620
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg) rs183130427
NM_001134363.3(RBM20):c.56C>G (p.Pro19Arg) rs727504766
NM_001134363.3(RBM20):c.746G>T (p.Gly249Val) rs397516623
NM_001134363.3(RBM20):c.831C>G (p.Ala277=) rs397516624
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001135556.2(DYNC1I1):c.109-7C>T rs1060499856
NM_001135580.2(TEKTIP1):c.322+18dup rs34196068
NM_001141947.3(CCDC66):c.11+7_11+16dup rs60235683
NM_001142459.2(ASB10):c.-67CT[10] rs34383739
NM_001142459.2(ASB10):c.-67CT[8] rs34383739
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
NM_001145809.2(MYH14):c.1095C>A (p.Phe365Leu) rs727505251
NM_001145809.2(MYH14):c.1217A>G (p.Gln406Arg) rs552730148
NM_001145809.2(MYH14):c.1330-7C>T rs1455864505
NM_001145809.2(MYH14):c.1382G>A (p.Arg461His) rs370353590
NM_001145809.2(MYH14):c.1533G>A (p.Gln511=) rs727504664
NM_001145809.2(MYH14):c.1625T>G (p.Leu542Arg) rs727504564
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.2000C>A (p.Pro667Gln) rs530921955
NM_001145809.2(MYH14):c.2018G>A (p.Cys673Tyr) rs2034551985
NM_001145809.2(MYH14):c.2232+9C>T rs1335453719
NM_001145809.2(MYH14):c.2667C>G (p.His889Gln) rs876657872
NM_001145809.2(MYH14):c.2900C>G (p.Thr967Arg) rs142134135
NM_001145809.2(MYH14):c.33G>A (p.Arg11=) rs8106196
NM_001145809.2(MYH14):c.33G>C (p.Arg11=) rs8106196
NM_001145809.2(MYH14):c.3467+1G>A rs727503223
NM_001145809.2(MYH14):c.3571G>T (p.Ala1191Ser) rs776570317
NM_001145809.2(MYH14):c.3987G>A (p.Gly1329=) rs876657515
NM_001145809.2(MYH14):c.4098G>A (p.Lys1366=) rs876657516
NM_001145809.2(MYH14):c.4152G>A (p.Glu1384=) rs727504965
NM_001145809.2(MYH14):c.5076C>A (p.Ala1692=) rs727503229
NM_001145809.2(MYH14):c.5083G>C (p.Gly1695Arg) rs199915414
NM_001145809.2(MYH14):c.5268C>T (p.Ala1756=) rs919018072
NM_001145809.2(MYH14):c.563-3C>G rs1555755418
NM_001145809.2(MYH14):c.590+13G>A rs727504954
NM_001145809.2(MYH14):c.5959C>T (p.Arg1987Ter) rs727503230
NM_001145809.2(MYH14):c.5960+4T>C rs1555779636
NM_001145809.2(MYH14):c.5961-14T>C rs757255560
NM_001145809.2(MYH14):c.5995C>A (p.Arg1999Ser) rs1375906074
NM_001145809.2(MYH14):c.660G>A (p.Ser220=) rs201835322
NM_001145809.2(MYH14):c.660G>T (p.Ser220=) rs201835322
NM_001145809.2(MYH14):c.66G>A (p.Glu22=) rs2032117052
NM_001145809.2(MYH14):c.949G>A (p.Gly317Arg) rs727503222
NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr) rs138631461
NM_001146079.2(CLDN14):c.505A>G (p.Ile169Val) rs1555841637
NM_001164457.3(ZNF705G):c.139+11G>C rs3989699
NM_001164462.2(MUC12):c.13704G>C (p.Leu4568Phe) rs73402837
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13368+11A>G rs112260335
NM_001164508.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001164508.2(NEB):c.18997-10T>C rs4544436
NM_001164508.2(NEB):c.23743-1G>C rs797045098
NM_001166175.2(NKX2-5):c.*353_*355delinsAT rs397516908
NM_001170.3(AQP7):c.343T>C (p.Tyr115His) rs74668961
NM_001170.3(AQP7):c.619G>A (p.Gly207Ser) rs117663392
NM_001170.3(AQP7):c.650T>A (p.Leu217His) rs201773300
NM_001170.3(AQP7):c.700C>A (p.Arg234Ser) rs139024279
NM_001171.6(ABCC6):c.3306+1del rs797045078
NM_001173393.3(HAVCR1):c.476_477insAAC (p.Thr160dup) rs77147640
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter) rs1363770105
NM_001174089.2(SLC4A11):c.425_433delinsC (p.Arg142fs) rs797045107
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001177519.3(MICA):c.947_948dup (p.Ala317fs) rs41293539
NM_001177519.3(MICA):c.948_949insCTGCTGCTGCT (p.Ala317fs) rs41293539
NM_001177519.3(MICA):c.953_956del (p.Gly318fs) rs138201170
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer) rs778073001
NM_001194.4(HCN2):c.2332G>C (p.Ala778Pro) rs1060499864
NM_001194.4(HCN2):c.246C>T (p.Cys82=) rs1060499863
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs) rs730882064
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195248.2(APTX):c.771-12dup rs34600530
NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys) rs377765391
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1402A>G (p.Met468Val) rs1392510268
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) rs1590053918
NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr) rs773503851
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4]) rs762000985
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3]) rs727503369
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7]) rs200896335
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.419G>A (p.Ser140Asn) rs1590069215
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001198.4(PRDM1):c.281del (p.Asn94fs) rs1582460592
NM_001199107.2(TBC1D24):c.-4C>T rs202124579
NM_001199107.2(TBC1D24):c.130T>C (p.Trp44Arg) rs1596967502
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) rs765396824
NM_001199107.2(TBC1D24):c.1529G>A (p.Gly510Glu) rs755880523
NM_001199107.2(TBC1D24):c.1541A>G (p.Gln514Arg) rs2065786840
NM_001199107.2(TBC1D24):c.1558G>C (p.Gly520Arg) rs1555501693
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=) rs754551693
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His) rs876658012
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=) rs769290045
NM_001199107.2(TBC1D24):c.843C>G (p.Ser281=) rs1555501311
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=) rs1328290571
NM_001199107.2(TBC1D24):c.903G>A (p.Gln301=) rs776739391
NM_001199799.2(ILDR1):c.*11C>T rs775202902
NM_001199799.2(ILDR1):c.-4C>T rs761442523
NM_001199799.2(ILDR1):c.1137G>C (p.Glu379Asp) rs1553743343
NM_001199799.2(ILDR1):c.1158G>C (p.Lys386Asn) rs1553743331
NM_001199799.2(ILDR1):c.1245G>T (p.Trp415Cys) rs140777020
NM_001199799.2(ILDR1):c.1357del (p.Arg453fs) rs759967990
NM_001199799.2(ILDR1):c.1425C>A (p.Gly475=) rs1183661317
NM_001199799.2(ILDR1):c.1526C>T (p.Pro509Leu) rs374884043
NM_001199799.2(ILDR1):c.1582A>G (p.Ser528Gly) rs727503095
NM_001199799.2(ILDR1):c.230-9del rs876657832
NM_001199799.2(ILDR1):c.255C>T (p.Gly85=) rs1553744679
NM_001199799.2(ILDR1):c.380-10T>A rs748442864
NM_001199799.2(ILDR1):c.486G>T (p.Lys162Asn) rs142554264
NM_001199799.2(ILDR1):c.561G>A (p.Val187=) rs775815087
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys) rs182963279
NM_001199799.2(ILDR1):c.762C>T (p.His254=) rs397516638
NM_001199799.2(ILDR1):c.950T>G (p.Leu317Arg) rs1553743398
NM_001201397.2(EDNRB):c.7A>T (p.Lys3Ter) rs876657805
NM_001204.6(BMPR2):c.(?_-63)_(76_?)+61del
NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro) rs876657748
NM_001204077.2(UBE4A):c.2412+23del rs370025001
NM_001206927.2(DNAH8):c.1975G>A (p.Ala659Thr) rs61748601
NM_001206927.2(DNAH8):c.3294C>G (p.Ser1098=) rs1678690
NM_001232.3(CASQ2):c.[730C>T;731A>G]
NM_001232.4(CASQ2):c.1090dup (p.Asp364fs) rs397516639
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu) rs150486780
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.19T>C (p.Phe7Leu) rs727502911
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.421-15C>T rs199939582
NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs) rs397516643
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001232.4(CASQ2):c.781T>C (p.Trp261Arg) rs397516642
NM_001232.4(CASQ2):c.783+3A>T rs876657751
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln) rs139228801
NM_001232.4(CASQ2):c.940-1G>T rs876657635
NM_001242.5(CD27):c.*15G>T rs1059501
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val) rs200288250
NM_001243133.2(NLRP3):c.375C>A (p.Ile125=) rs758069883
NM_001243133.2(NLRP3):c.619T>C (p.Phe207Leu) rs776833139
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) rs3806268
NM_001244008.2(KIF1A):c.2721GGA[10] (p.Glu917del) rs10594016
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001249.5(ENTPD5):c.442-14dup rs201751093
NM_001252275.3(UGT2A1):c.576T>A (p.Tyr192Ter) rs111696697
NM_001256317.3(TMPRSS3):c.1087T>G (p.Leu363Val) rs397517370
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His) rs111033537
NM_001256317.3(TMPRSS3):c.1189C>T (p.Gln397Ter) rs727504304
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) rs565348874
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.234A>C (p.Arg78Ser) rs567503320
NM_001256317.3(TMPRSS3):c.238C>T (p.Arg80Cys) rs143733205
NM_001256317.3(TMPRSS3):c.257T>A (p.Ile86Asn) rs397517372
NM_001256317.3(TMPRSS3):c.272G>A (p.Arg91Gln) rs397517373
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.333T>C (p.Gly111=) rs397517375
NM_001256317.3(TMPRSS3):c.446+9A>G rs367594676
NM_001256317.3(TMPRSS3):c.497G>A (p.Arg166Gln) rs150397427
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001256317.3(TMPRSS3):c.550T>G (p.Leu184Val) rs876658022
NM_001256317.3(TMPRSS3):c.613A>C (p.Thr205Pro) rs1175336303
NM_001256317.3(TMPRSS3):c.918C>T (p.Ala306=) rs749538864
NM_001256317.3(TMPRSS3):c.948C>G (p.Phe316Leu) rs727504592
NM_001256317.3(TMPRSS3):c.953-9T>C rs1555853318
NM_001256545.2(MEGF10):c.174G>A (p.Thr58=) rs12654455
NM_001256850.1(TTN):c.75630_75631delinsTT (p.Arg25211Cys) rs397517716
NM_001256850.1(TTN):c.86916dup (p.Val28973fs) rs730880365
NM_001261430.2(PTGES3L):c.433-8_433-7del rs200141347
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.10045A>G (p.Thr3349Ala) rs777960129
NM_001267550.2(TTN):c.100980G>C (p.Glu33660Asp) rs727503536
NM_001267550.2(TTN):c.10114+14C>T rs876657598
NM_001267550.2(TTN):c.101214T>C (p.Arg33738=) rs876657617
NM_001267550.2(TTN):c.101250C>G (p.Ile33750Met) rs397517784
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys) rs876658097
NM_001267550.2(TTN):c.101754T>G (p.Ser33918Arg) rs952080555
NM_001267550.2(TTN):c.102028A>C (p.Ser34010Arg) rs727503534
NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs) rs876657663
NM_001267550.2(TTN):c.102846T>A (p.Thr34282=) rs876657618
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter) rs397517787
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val) rs761105256
NM_001267550.2(TTN):c.103804C>G (p.Gln34602Glu) rs727505242
NM_001267550.2(TTN):c.104414G>T (p.Arg34805Leu) rs115150240
NM_001267550.2(TTN):c.104950del (p.Glu34984fs) rs727503533
NM_001267550.2(TTN):c.104985A>G (p.Gly34995=) rs397517793
NM_001267550.2(TTN):c.104993C>A (p.Thr34998Asn) rs397517794
NM_001267550.2(TTN):c.104995C>T (p.Leu34999=) rs727503532
NM_001267550.2(TTN):c.1049A>G (p.Tyr350Cys) rs563369722
NM_001267550.2(TTN):c.105136G>A (p.Glu35046Lys) rs540500017
NM_001267550.2(TTN):c.10523C>T (p.Thr3508Ile) rs397517823
NM_001267550.2(TTN):c.105466C>G (p.Pro35156Ala) rs876658100
NM_001267550.2(TTN):c.105630A>C (p.Gln35210His) rs397517798
NM_001267550.2(TTN):c.10577T>C (p.Ile3526Thr) rs727503677
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln) rs1553484561
NM_001267550.2(TTN):c.105843A>T (p.Pro35281=) rs876657619
NM_001267550.2(TTN):c.106445C>G (p.Thr35482Ser) rs397517799
NM_001267550.2(TTN):c.107147del (p.Gly35716fs) rs876658101
NM_001267550.2(TTN):c.107223+1G>A rs876658102
NM_001267550.2(TTN):c.10770G>A (p.Glu3590=) rs377401997
NM_001267550.2(TTN):c.11140A>G (p.Ile3714Val) rs397517833
NM_001267550.2(TTN):c.11311+1079_11311+1080del rs58651353
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_001267550.2(TTN):c.11334T>C (p.Ser3778=) rs397517824
NM_001267550.2(TTN):c.11450G>A (p.Gly3817Asp) rs371056587
NM_001267550.2(TTN):c.11546C>T (p.Pro3849Leu) rs727503662
NM_001267550.2(TTN):c.11602T>C (p.Phe3868Leu) rs727504700
NM_001267550.2(TTN):c.11657del (p.Asp3886fs) rs397517826
NM_001267550.2(TTN):c.11756C>T (p.Thr3919Ile) rs727503661
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr) rs200052202
NM_001267550.2(TTN):c.12037G>A (p.Ala4013Thr) rs397517828
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.1246-5T>C rs727503707
NM_001267550.2(TTN):c.12734A>G (p.Asn4245Ser) rs879167134
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.12851A>C (p.Gln4284Pro) rs876658107
NM_001267550.2(TTN):c.12887C>T (p.Ser4296Leu) rs727503657
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.13078A>C (p.Lys4360Gln) rs727504903
NM_001267550.2(TTN):c.1312G>A (p.Val438Met) rs727504795
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser) rs727503656
NM_001267550.2(TTN):c.1349C>T (p.Ala450Val) rs727503706
NM_001267550.2(TTN):c.13501A>G (p.Thr4501Ala) rs750320283
NM_001267550.2(TTN):c.13599A>G (p.Glu4533=) rs727503654
NM_001267550.2(TTN):c.13654G>A (p.Val4552Ile) rs374214280
NM_001267550.2(TTN):c.13793del (p.Gly4598fs) rs727503653
NM_001267550.2(TTN):c.13864A>G (p.Ile4622Val) rs397517831
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.14169C>T (p.Ile4723=) rs397517479
NM_001267550.2(TTN):c.14326A>G (p.Asn4776Asp) rs727505309
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.14828C>A (p.Ala4943Glu) rs540497678
NM_001267550.2(TTN):c.14850C>G (p.Ala4950=) rs376339761
NM_001267550.2(TTN):c.1499C>T (p.Thr500Ile) rs727503704
NM_001267550.2(TTN):c.15040A>G (p.Thr5014Ala) rs143093473
NM_001267550.2(TTN):c.15130G>A (p.Val5044Ile) rs727503650
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.151C>T (p.Leu51=) rs397517489
NM_001267550.2(TTN):c.15369_15371del (p.Leu5123del) rs397517480
NM_001267550.2(TTN):c.15415A>G (p.Ser5139Gly) rs876658040
NM_001267550.2(TTN):c.15496+1G>A rs397517481
NM_001267550.2(TTN):c.15497-8T>C rs727505010
NM_001267550.2(TTN):c.15901T>C (p.Leu5301=) rs727505349
NM_001267550.2(TTN):c.16367C>A (p.Pro5456His) rs876658041
NM_001267550.2(TTN):c.16492A>G (p.Ile5498Val) rs876658042
NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn) rs779652311
NM_001267550.2(TTN):c.1691C>T (p.Ala564Val) rs727505068
NM_001267550.2(TTN):c.17208C>G (p.Ile5736Met) rs397517484
NM_001267550.2(TTN):c.1728A>G (p.Lys576=) rs727503703
NM_001267550.2(TTN):c.17386C>G (p.His5796Asp) rs397517485
NM_001267550.2(TTN):c.17752C>A (p.Pro5918Thr) rs727504480
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=) rs557350005
NM_001267550.2(TTN):c.1828G>C (p.Val610Leu) rs397517499
NM_001267550.2(TTN):c.18413C>A (p.Ser6138Tyr) rs727504477
NM_001267550.2(TTN):c.18810G>A (p.Gln6270=) rs727505012
NM_001267550.2(TTN):c.19015T>C (p.Tyr6339His) rs397517490
NM_001267550.2(TTN):c.19282A>T (p.Ser6428Cys) rs727505137
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.19483G>A (p.Gly6495Ser) rs397517491
NM_001267550.2(TTN):c.19914T>C (p.Ala6638=) rs1317197263
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=) rs535793314
NM_001267550.2(TTN):c.20260A>G (p.Lys6754Glu) rs397517494
NM_001267550.2(TTN):c.20263G>C (p.Val6755Leu) rs876657599
NM_001267550.2(TTN):c.20367G>A (p.Pro6789=) rs368422028
NM_001267550.2(TTN):c.20736A>G (p.Leu6912=) rs876657600
NM_001267550.2(TTN):c.2076G>T (p.Lys692Asn) rs1333188525
NM_001267550.2(TTN):c.20971A>G (p.Ser6991Gly) rs397517496
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.21382C>G (p.Arg7128Gly) rs727505031
NM_001267550.2(TTN):c.2143A>G (p.Arg715Gly) rs727505258
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.21755C>T (p.Thr7252Ile) rs375714080
NM_001267550.2(TTN):c.22361G>A (p.Arg7454Lys) rs727504464
NM_001267550.2(TTN):c.22386T>G (p.Asp7462Glu) rs183482849
NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu) rs533384820
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23098+15G>T rs397517503
NM_001267550.2(TTN):c.23214T>C (p.Asp7738=) rs727503648
NM_001267550.2(TTN):c.23371T>C (p.Phe7791Leu) rs727505045
NM_001267550.2(TTN):c.23537T>A (p.Phe7846Tyr) rs397517504
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=) rs149523263
NM_001267550.2(TTN):c.2359A>G (p.Ile787Val) rs397517522
NM_001267550.2(TTN):c.2376G>A (p.Lys792=) rs727504854
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.23919T>C (p.Thr7973=) rs727504974
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=) rs749823104
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) rs727504843
NM_001267550.2(TTN):c.24823G>A (p.Ala8275Thr) rs771947778
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.25545T>C (p.Val8515=) rs397517515
NM_001267550.2(TTN):c.25706A>G (p.Tyr8569Cys) rs397517516
NM_001267550.2(TTN):c.26055C>T (p.Ser8685=) rs727505250
NM_001267550.2(TTN):c.2607T>C (p.Thr869=) rs143969192
NM_001267550.2(TTN):c.26201-13C>T rs727505138
NM_001267550.2(TTN):c.26345A>G (p.Asn8782Ser) rs727504895
NM_001267550.2(TTN):c.26762-39TTTGT[10] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.2682T>C (p.Ala894=) rs727505299
NM_001267550.2(TTN):c.27328+4T>G rs876658048
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg) rs774924294
NM_001267550.2(TTN):c.2776G>A (p.Val926Ile) rs876658052
NM_001267550.2(TTN):c.27849G>A (p.Val9283=) rs397517525
NM_001267550.2(TTN):c.27886+10A>G rs397517526
NM_001267550.2(TTN):c.27941T>A (p.Val9314Asp) rs727505348
NM_001267550.2(TTN):c.28139G>T (p.Gly9380Val) rs397517528
NM_001267550.2(TTN):c.28587A>C (p.Lys9529Asn) rs876658049
NM_001267550.2(TTN):c.28641C>T (p.Asn9547=) rs727505185
NM_001267550.2(TTN):c.28754A>C (p.Glu9585Ala) rs200856239
NM_001267550.2(TTN):c.28903A>G (p.Arg9635Gly) rs397517531
NM_001267550.2(TTN):c.29238C>T (p.Phe9746=) rs727503640
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.29278G>A (p.Asp9760Asn) rs372537023
NM_001267550.2(TTN):c.29448AGA[2] (p.Glu9820del) rs377232641
NM_001267550.2(TTN):c.29604+7T>C rs727503639
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.30296G>A (p.Cys10099Tyr) rs1253569310
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs) rs727504452
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30682+10C>T rs727505022
NM_001267550.2(TTN):c.30803-15C>T rs397517535
NM_001267550.2(TTN):c.3089T>C (p.Leu1030Pro) rs727504809
NM_001267550.2(TTN):c.31014T>G (p.Tyr10338Ter) rs397517536
NM_001267550.2(TTN):c.31149G>A (p.Glu10383=) rs727504724
NM_001267550.2(TTN):c.31207+5G>A rs876658051
NM_001267550.2(TTN):c.31255C>T (p.Pro10419Ser) rs397517537
NM_001267550.2(TTN):c.31542T>C (p.Thr10514=) rs876657602
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.3228T>C (p.Pro1076=) rs876657604
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met) rs549877654
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.32449G>A (p.Glu10817Lys) rs876658053
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser) rs727503635
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=) rs397517542
NM_001267550.2(TTN):c.32866del (p.Arg10956fs) rs876658054
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln) rs181395238
NM_001267550.2(TTN):c.33172+15del rs559323758
NM_001267550.2(TTN):c.33404C>A (p.Ala11135Glu) rs577901623
NM_001267550.2(TTN):c.33479C>T (p.Thr11160Ile) rs876658055
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.33580+6T>C rs368442571
NM_001267550.2(TTN):c.33971A>G (p.Lys11324Arg) rs727504880
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34453+14G>A rs397517550
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.34709-1G>A rs727503634
NM_001267550.2(TTN):c.3476G>A (p.Arg1159His) rs149883066
NM_001267550.2(TTN):c.34855+7C>T rs397517552
NM_001267550.2(TTN):c.34947A>G (p.Glu11649=) rs727504514
NM_001267550.2(TTN):c.3523+11C>G rs397517569
NM_001267550.2(TTN):c.3523+9A>C rs727503700
NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr) rs397517570
NM_001267550.2(TTN):c.35374C>T (p.Pro11792Ser) rs727505111
NM_001267550.2(TTN):c.3625T>C (p.Phe1209Leu) rs727503698
NM_001267550.2(TTN):c.37397C>T (p.Pro12466Leu) rs727503632
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001267550.2(TTN):c.385G>A (p.Gly129Arg) rs727503708
NM_001267550.2(TTN):c.39212-9C>A rs373056460
NM_001267550.2(TTN):c.39282TCC[1] (p.Pro13097del) rs727503631
NM_001267550.2(TTN):c.39325G>C (p.Glu13109Gln) rs727504920
NM_001267550.2(TTN):c.39366G>A (p.Ala13122=) rs769494020
NM_001267550.2(TTN):c.39419C>T (p.Ala13140Val) rs397517556
NM_001267550.2(TTN):c.39477C>T (p.Pro13159=) rs397517557
NM_001267550.2(TTN):c.39652T>C (p.Leu13218=) rs727505145
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser) rs727503630
NM_001267550.2(TTN):c.39895G>A (p.Glu13299Lys) rs758166967
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.40315G>T (p.Val13439Phe) rs397517559
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.40877-14T>C rs397517561
NM_001267550.2(TTN):c.40956A>G (p.Ile13652Met) rs397517562
NM_001267550.2(TTN):c.41140A>G (p.Thr13714Ala) rs876658057
NM_001267550.2(TTN):c.41143G>A (p.Ala13715Thr) rs1192068092
NM_001267550.2(TTN):c.41179C>G (p.Arg13727Gly) rs397517563
NM_001267550.2(TTN):c.41253C>T (p.Ser13751=) rs772643931
NM_001267550.2(TTN):c.41407G>A (p.Glu13803Lys) rs727504780
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41504G>A (p.Arg13835Gln) rs727504539
NM_001267550.2(TTN):c.41610del (p.Val13871fs) rs397517565
NM_001267550.2(TTN):c.41G>T (p.Ser14Ile) rs771027745
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser) rs367751077
NM_001267550.2(TTN):c.42278A>G (p.Lys14093Arg) rs1553743733
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.4269_4298del (p.1420ARMSP[2]) rs727503696
NM_001267550.2(TTN):c.42947-2A>G rs1553741357
NM_001267550.2(TTN):c.42950G>A (p.Arg14317Gln) rs727505144
NM_001267550.2(TTN):c.42968dup (p.Pro14324fs) rs1553741321
NM_001267550.2(TTN):c.429A>G (p.Glu143=) rs878966869
NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg) rs557125278
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.43481-16dup rs730880350
NM_001267550.2(TTN):c.43761T>C (p.Tyr14587=) rs397517574
NM_001267550.2(TTN):c.43984G>C (p.Asp14662His) rs876658059
NM_001267550.2(TTN):c.44014+15A>C rs876657605
NM_001267550.2(TTN):c.44040C>A (p.Pro14680=) rs397517575
NM_001267550.2(TTN):c.44350G>A (p.Asp14784Asn) rs72677216
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.44390A>G (p.Tyr14797Cys) rs876658060
NM_001267550.2(TTN):c.44400del (p.Lys14801fs) rs727503628
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.44531C>G (p.Ala14844Gly) rs1053826157
NM_001267550.2(TTN):c.44937T>C (p.Ala14979=) rs370413913
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) rs373109469
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45082+6A>G rs876658061
NM_001267550.2(TTN):c.45120T>C (p.Ile15040=) rs74580375
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.45268C>A (p.Gln15090Lys) rs397517579
NM_001267550.2(TTN):c.45606G>A (p.Leu15202=) rs397517581
NM_001267550.2(TTN):c.45895+1G>A rs727504589
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) rs397517584
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del) rs727505075
NM_001267550.2(TTN):c.46150C>G (p.Leu15384Val) rs727505078
NM_001267550.2(TTN):c.46557T>G (p.Val15519=) rs727503626
NM_001267550.2(TTN):c.46611G>T (p.Gln15537His) rs727503625
NM_001267550.2(TTN):c.46659C>G (p.Ala15553=) rs876657606
NM_001267550.2(TTN):c.46667AAG[1] (p.Glu15557del) rs876658062
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter) rs397517586
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) rs397517587
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser) rs397517588
NM_001267550.2(TTN):c.46951A>G (p.Asn15651Asp) rs727505035
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn) rs727504572
NM_001267550.2(TTN):c.47211A>C (p.Arg15737Ser) rs727503624
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) rs397517589
NM_001267550.2(TTN):c.48074G>A (p.Ser16025Asn) rs727504720
NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser) rs876658063
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) rs769784536
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.48761-1G>C rs876657665
NM_001267550.2(TTN):c.48843C>T (p.Thr16281=) rs547682223
NM_001267550.2(TTN):c.49533-13G>A rs13395942
NM_001267550.2(TTN):c.4960C>G (p.Pro1654Ala) rs876658070
NM_001267550.2(TTN):c.49732G>T (p.Asp16578Tyr) rs727505143
NM_001267550.2(TTN):c.49942A>G (p.Lys16648Glu) rs727505156
NM_001267550.2(TTN):c.49955C>T (p.Pro16652Leu) rs727504966
NM_001267550.2(TTN):c.50028G>A (p.Glu16676=) rs727503621
NM_001267550.2(TTN):c.50249-15T>G rs727504732
NM_001267550.2(TTN):c.50494G>A (p.Ala16832Thr) rs1465354124
NM_001267550.2(TTN):c.5052T>C (p.Tyr1684=) rs727503694
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.50647C>T (p.Pro16883Ser) rs397517602
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.51221A>G (p.Asp17074Gly) rs1553693510
NM_001267550.2(TTN):c.51338C>T (p.Pro17113Leu) rs763635220
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe) rs397517603
NM_001267550.2(TTN):c.51547A>T (p.Ile17183Phe) rs397517605
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=) rs876657607
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51870del (p.Glu17291fs) rs1553691320
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln) rs547986881
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs) rs727503615
NM_001267550.2(TTN):c.52230C>T (p.Asp17410=) rs397517608
NM_001267550.2(TTN):c.52406-6T>A rs727504767
NM_001267550.2(TTN):c.52448C>T (p.Thr17483Ile) rs1553688779
NM_001267550.2(TTN):c.52656_52684delinsCAGATCCCAAAACAGATCCC (p.Gly17553_Lys17562delinsArgSerGlnAsnArgSerGln) rs727503613
NM_001267550.2(TTN):c.52681C>A (p.Pro17561Thr) rs727503612
NM_001267550.2(TTN):c.52860A>G (p.Thr17620=) rs397517611
NM_001267550.2(TTN):c.53002+10G>T rs370352450
NM_001267550.2(TTN):c.53080G>C (p.Ala17694Pro) rs727503611
NM_001267550.2(TTN):c.53096G>C (p.Arg17699Pro) rs72646808
NM_001267550.2(TTN):c.53287+1G>A rs1064794266
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53517_53519del (p.Lys17840del) rs727504701
NM_001267550.2(TTN):c.53558C>G (p.Pro17853Arg) rs727503609
NM_001267550.2(TTN):c.53581G>A (p.Gly17861Ser) rs1576357395
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.53696T>C (p.Ile17899Thr) rs369723141
NM_001267550.2(TTN):c.54057A>C (p.Glu18019Asp) rs397517614
NM_001267550.2(TTN):c.54130A>G (p.Thr18044Ala) rs397517616
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) rs397517620
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54793G>A (p.Val18265Ile) rs397517621
NM_001267550.2(TTN):c.54812T>G (p.Phe18271Cys) rs727503601
NM_001267550.2(TTN):c.54882A>C (p.Lys18294Asn) rs770482704
NM_001267550.2(TTN):c.55303-10C>G rs773047398
NM_001267550.2(TTN):c.55728G>A (p.Pro18576=) rs727504598
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter) rs727503598
NM_001267550.2(TTN):c.55952A>G (p.Glu18651Gly) rs876658067
NM_001267550.2(TTN):c.56647+1G>A rs397517624
NM_001267550.2(TTN):c.56679T>C (p.Val18893=) rs397517625
NM_001267550.2(TTN):c.56788A>G (p.Arg18930Gly) rs727503595
NM_001267550.2(TTN):c.56801T>A (p.Val18934Asp) rs1553663624
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.56956C>A (p.Pro18986Thr) rs568015697
NM_001267550.2(TTN):c.57017A>G (p.Asp19006Gly) rs747343924
NM_001267550.2(TTN):c.57215del (p.Gly19072fs) rs397517628
NM_001267550.2(TTN):c.57232A>G (p.Thr19078Ala) rs727503593
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile) rs200778464
NM_001267550.2(TTN):c.57693G>T (p.Trp19231Cys) rs876658071
NM_001267550.2(TTN):c.57786T>C (p.Asn19262=) rs876657608
NM_001267550.2(TTN):c.57847+1G>A rs397517631
NM_001267550.2(TTN):c.58049AAG[1] (p.Glu19351del) rs397517634
NM_001267550.2(TTN):c.58274C>G (p.Ala19425Gly) rs727504525
NM_001267550.2(TTN):c.58392T>C (p.Ser19464=) rs876657609
NM_001267550.2(TTN):c.58394C>G (p.Thr19465Arg) rs571477228
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.58728T>C (p.Arg19576=) rs727504475
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.58897A>G (p.Ile19633Val) rs727505028
NM_001267550.2(TTN):c.58902T>C (p.His19634=) rs397517639
NM_001267550.2(TTN):c.5917A>G (p.Thr1973Ala) rs397517666
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.5929G>A (p.Val1977Met) rs876658075
NM_001267550.2(TTN):c.59504T>G (p.Val19835Gly) rs727504511
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser) rs547180437
NM_001267550.2(TTN):c.59632C>T (p.Pro19878Ser) rs752854931
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn) rs374163882
NM_001267550.2(TTN):c.5992C>T (p.Arg1998Cys) rs727503692
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.60180C>T (p.Leu20060=) rs876657610
NM_001267550.2(TTN):c.6029A>G (p.Tyr2010Cys) rs397517672
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.60746A>C (p.Glu20249Ala) rs397517646
NM_001267550.2(TTN):c.60756A>G (p.Ile20252Met) rs876657611
NM_001267550.2(TTN):c.609G>C (p.Lys203Asn) rs1554042109
NM_001267550.2(TTN):c.61138C>T (p.Leu20380=) rs201167216
NM_001267550.2(TTN):c.61615G>A (p.Ala20539Thr) rs754756569
NM_001267550.2(TTN):c.61742T>G (p.Val20581Gly) rs727504849
NM_001267550.2(TTN):c.61761A>C (p.Thr20587=) rs727505259
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.6227A>G (p.Glu2076Gly) rs397517680
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.63241A>T (p.Ile21081Leu) rs876658074
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe) rs377480514
NM_001267550.2(TTN):c.63291T>C (p.Ile21097=) rs397517653
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.63632T>C (p.Val21211Ala) rs397517654
NM_001267550.2(TTN):c.6375C>T (p.Tyr2125=) rs2092122331
NM_001267550.2(TTN):c.64094-2A>G rs876657667
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter) rs1576014673
NM_001267550.2(TTN):c.64397-1G>C rs876657668
NM_001267550.2(TTN):c.64589C>T (p.Thr21530Ile) rs397517659
NM_001267550.2(TTN):c.64774A>G (p.Ile21592Val) rs727503581
NM_001267550.2(TTN):c.64998A>G (p.Ala21666=) rs876657612
NM_001267550.2(TTN):c.6508+14C>A rs771328770
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=) rs397517660
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu) rs397517661
NM_001267550.2(TTN):c.65243C>T (p.Pro21748Leu) rs1419714561
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=) rs727503579
NM_001267550.2(TTN):c.66275T>G (p.Leu22092Arg) rs1553627146
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) rs397517664
NM_001267550.2(TTN):c.66681A>G (p.Gln22227=) rs397517665
NM_001267550.2(TTN):c.66778G>A (p.Glu22260Lys) rs553988103
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) rs397517698
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn) rs397517670
NM_001267550.2(TTN):c.67683G>C (p.Leu22561Phe) rs876658076
NM_001267550.2(TTN):c.6783T>A (p.Ile2261=) rs876657614
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) rs727505352
NM_001267550.2(TTN):c.68251A>C (p.Asn22751His) rs727504970
NM_001267550.2(TTN):c.68379T>C (p.Ala22793=) rs727503574
NM_001267550.2(TTN):c.68410A>G (p.Lys22804Glu) rs397517677
NM_001267550.2(TTN):c.68417C>T (p.Thr22806Ile) rs727503573
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu) rs876658077
NM_001267550.2(TTN):c.68612A>C (p.His22871Pro) rs761622490
NM_001267550.2(TTN):c.68654C>T (p.Ser22885Leu) rs376574861
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.69117T>A (p.Asp23039Glu) rs727503572
NM_001267550.2(TTN):c.6913G>A (p.Glu2305Lys) rs367761468
NM_001267550.2(TTN):c.69393C>G (p.Val23131=) rs727504692
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs) rs397517679
NM_001267550.2(TTN):c.69546A>G (p.Lys23182=) rs876657613
NM_001267550.2(TTN):c.6981T>C (p.Asp2327=) rs397517709
NM_001267550.2(TTN):c.69844G>A (p.Val23282Ile) rs876658079
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.70275del (p.Ser23425fs) rs727504655
NM_001267550.2(TTN):c.70473A>G (p.Lys23491=) rs397517685
NM_001267550.2(TTN):c.70600T>A (p.Ser23534Thr) rs397517686
NM_001267550.2(TTN):c.70625T>C (p.Met23542Thr) rs727503570
NM_001267550.2(TTN):c.70796A>T (p.Glu23599Val) rs727503568
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71332G>A (p.Ala23778Thr) rs727503566
NM_001267550.2(TTN):c.7133A>G (p.Lys2378Arg) rs727503690
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71952T>C (p.Phe23984=) rs727504881
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.72171A>G (p.Pro24057=) rs397517692
NM_001267550.2(TTN):c.72236A>G (p.Lys24079Arg) rs775482499
NM_001267550.2(TTN):c.7242T>C (p.Ile2414=) rs727503689
NM_001267550.2(TTN):c.72652A>C (p.Asn24218His) rs727505243
NM_001267550.2(TTN):c.72874G>A (p.Glu24292Lys) rs727505240
NM_001267550.2(TTN):c.72985A>G (p.Asn24329Asp) rs397517694
NM_001267550.2(TTN):c.73385G>C (p.Trp24462Ser) rs1553607435
NM_001267550.2(TTN):c.73387del (p.Ala24463fs) rs1553607425
NM_001267550.2(TTN):c.73540G>T (p.Val24514Phe) rs1553607188
NM_001267550.2(TTN):c.73743C>A (p.Asp24581Glu) rs727504603
NM_001267550.2(TTN):c.73827del (p.Glu24609fs) rs397517695
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.74057C>G (p.Ser24686Cys) rs727504921
NM_001267550.2(TTN):c.74181A>G (p.Val24727=) rs374889737
NM_001267550.2(TTN):c.74416C>T (p.Leu24806Phe) rs866687107
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.74673G>C (p.Lys24891Asn) rs727504855
NM_001267550.2(TTN):c.75044C>T (p.Ala25015Val) rs397517699
NM_001267550.2(TTN):c.75104G>A (p.Gly25035Glu) rs727503560
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe) rs559907766
NM_001267550.2(TTN):c.75443del (p.Gly25148fs) rs1553603456
NM_001267550.2(TTN):c.7556T>G (p.Val2519Gly) rs372361514
NM_001267550.2(TTN):c.75621A>C (p.Pro25207=) rs1553603053
NM_001267550.2(TTN):c.76027A>G (p.Lys25343Glu) rs727504596
NM_001267550.2(TTN):c.76229A>T (p.Asn25410Ile) rs397517706
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter) rs727503688
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala) rs377754701
NM_001267550.2(TTN):c.76559T>C (p.Ile25520Thr) rs1553601714
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.77013T>C (p.Tyr25671=) rs397517707
NM_001267550.2(TTN):c.77171A>T (p.His25724Leu) rs768382014
NM_001267550.2(TTN):c.77182A>G (p.Ser25728Gly) rs1306199809
NM_001267550.2(TTN):c.77564T>A (p.Leu25855His) rs397517710
NM_001267550.2(TTN):c.77772C>T (p.Thr25924=) rs727505107
NM_001267550.2(TTN):c.77789A>C (p.Lys25930Thr) rs397517711
NM_001267550.2(TTN):c.78370A>T (p.Ile26124Phe) rs397517713
NM_001267550.2(TTN):c.78481T>A (p.Phe26161Ile) rs876658082
NM_001267550.2(TTN):c.78711T>A (p.Ser26237=) rs727504808
NM_001267550.2(TTN):c.79109G>A (p.Gly26370Glu) rs727505061
NM_001267550.2(TTN):c.79207A>G (p.Met26403Val) rs876658083
NM_001267550.2(TTN):c.79217G>C (p.Cys26406Ser) rs727505223
NM_001267550.2(TTN):c.79343T>G (p.Val26448Gly) rs1553590427
NM_001267550.2(TTN):c.79827del (p.Ala26610fs) rs397517715
NM_001267550.2(TTN):c.80006G>A (p.Ser26669Asn) rs727505214
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) rs780512337
NM_001267550.2(TTN):c.80562G>A (p.Lys26854=) rs397517717
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) rs1060500562
NM_001267550.2(TTN):c.8131A>C (p.Lys2711Gln) rs727504735
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81521del (p.Pro27174fs) rs1553577362
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.81612T>A (p.Gly27204=) rs397517722
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs) rs727504660
NM_001267550.2(TTN):c.81881T>G (p.Val27294Gly) rs876658084
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) rs727503557
NM_001267550.2(TTN):c.81901G>A (p.Gly27301Ser) rs727504650
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.82446C>T (p.Thr27482=) rs768861950
NM_001267550.2(TTN):c.82605C>T (p.Thr27535=) rs772246177
NM_001267550.2(TTN):c.82759G>A (p.Val27587Ile) rs876658085
NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter) rs727505288
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83407del (p.Val27803fs) rs727504782
NM_001267550.2(TTN):c.83603del (p.Gly27868fs) rs727505014
NM_001267550.2(TTN):c.83611A>T (p.Thr27871Ser) rs397517724
NM_001267550.2(TTN):c.83843del (p.Arg27948fs) rs1703956616
NM_001267550.2(TTN):c.84095C>A (p.Thr28032Asn) rs876658087
NM_001267550.2(TTN):c.84451C>A (p.Pro28151Thr) rs727504873
NM_001267550.2(TTN):c.84523T>C (p.Trp28175Arg) rs397517728
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter) rs397517729
NM_001267550.2(TTN):c.84625A>G (p.Ile28209Val) rs753472730
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.85598_85603del (p.Val28533_Gly28534del) rs727503553
NM_001267550.2(TTN):c.8633_8636del (p.Phe2878fs) rs727503686
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter) rs1064793814
NM_001267550.2(TTN):c.86377A>G (p.Thr28793Ala) rs727505234
NM_001267550.2(TTN):c.86429T>C (p.Leu28810Pro) rs397517734
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter) rs868494032
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86810T>A (p.Val28937Glu) rs1702746268
NM_001267550.2(TTN):c.8685G>T (p.Glu2895Asp) rs727503685
NM_001267550.2(TTN):c.87049G>A (p.Ala29017Thr) rs727505050
NM_001267550.2(TTN):c.87377C>G (p.Thr29126Ser) rs559269036
NM_001267550.2(TTN):c.87390T>A (p.Ile29130=) rs876657616
NM_001267550.2(TTN):c.87516del (p.Tyr29173fs) rs727503552
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter) rs1575584918
NM_001267550.2(TTN):c.8780_8781insAT (p.Phe2927fs) rs2091199299
NM_001267550.2(TTN):c.88009+13C>T rs397517739
NM_001267550.2(TTN):c.88297G>C (p.Asp29433His) rs189202799
NM_001267550.2(TTN):c.88306+1G>C rs727503550
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu) rs397517763
NM_001267550.2(TTN):c.8902+13_8902+14delinsGA rs1553993564
NM_001267550.2(TTN):c.89197_89197+2del rs397517741
NM_001267550.2(TTN):c.8953A>T (p.Thr2985Ser) rs727503684
NM_001267550.2(TTN):c.89545G>T (p.Val29849Phe) rs727504493
NM_001267550.2(TTN):c.89766G>C (p.Lys29922Asn) rs397517745
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.90129A>G (p.Thr30043=) rs727504960
NM_001267550.2(TTN):c.9031A>G (p.Thr3011Ala) rs727504682
NM_001267550.2(TTN):c.90409C>T (p.Pro30137Ser) rs727505150
NM_001267550.2(TTN):c.90415G>A (p.Ala30139Thr) rs397517748
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg) rs397517751
NM_001267550.2(TTN):c.90904G>A (p.Glu30302Lys) rs1553538924
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001267550.2(TTN):c.91108C>G (p.Leu30370Val) rs876658092
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer) rs727505076
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91478A>G (p.Glu30493Gly) rs397517754
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.9160G>A (p.Glu3054Lys) rs397517779
NM_001267550.2(TTN):c.92467G>A (p.Gly30823Ser) rs727504934
NM_001267550.2(TTN):c.92498C>T (p.Thr30833Ile) rs727505334
NM_001267550.2(TTN):c.92513T>A (p.Val30838Glu) rs727505344
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.93101C>A (p.Thr31034Lys) rs727504875
NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys) rs750303653
NM_001267550.2(TTN):c.93367G>A (p.Val31123Ile) rs202096200
NM_001267550.2(TTN):c.93472G>C (p.Asp31158His) rs397517757
NM_001267550.2(TTN):c.9369T>G (p.Asp3123Glu) rs397517785
NM_001267550.2(TTN):c.9384dup (p.Val3129fs) rs727503683
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.94057A>T (p.Thr31353Ser) rs727503548
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=) rs727505200
NM_001267550.2(TTN):c.95363A>G (p.Tyr31788Cys) rs397517761
NM_001267550.2(TTN):c.95543AGA[2] (p.Lys31850del) rs727504556
NM_001267550.2(TTN):c.95594A>T (p.Asp31865Val) rs876658094
NM_001267550.2(TTN):c.95732G>A (p.Gly31911Glu) rs778837156
NM_001267550.2(TTN):c.95744C>T (p.Ala31915Val) rs1553519431
NM_001267550.2(TTN):c.95848G>A (p.Glu31950Lys) rs727505199
NM_001267550.2(TTN):c.95864A>T (p.Gln31955Leu) rs552683796
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met) rs727503541
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.961G>A (p.Val321Ile) rs876658099
NM_001267550.2(TTN):c.96229C>T (p.Arg32077Trp) rs751316145
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter) rs876657671
NM_001267550.2(TTN):c.96478A>G (p.Ser32160Gly) rs727504907
NM_001267550.2(TTN):c.96499T>C (p.Ser32167Pro) rs727504889
NM_001267550.2(TTN):c.965G>A (p.Arg322Lys) rs144557211
NM_001267550.2(TTN):c.96659C>T (p.Thr32220Ile) rs727505204
NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp) rs876658095
NM_001267550.2(TTN):c.97191T>G (p.Leu32397=) rs397517767
NM_001267550.2(TTN):c.97204_97205delinsAG (p.Pro32402Arg) rs864622675
NM_001267550.2(TTN):c.97331G>A (p.Arg32444His) rs184922462
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98000A>G (p.Gln32667Arg) rs397517773
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98158G>A (p.Gly32720Ser) rs727504768
NM_001267550.2(TTN):c.98296G>T (p.Asp32766Tyr) rs727504449
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) rs727504550
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99273A>G (p.Ile33091Met) rs746305727
NM_001267550.2(TTN):c.99466C>A (p.His33156Asn) rs374666520
NM_001267550.2(TTN):c.99810C>T (p.Val33270=) rs564536939
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe) rs397517780
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99866-1G>A rs876657672
NM_001276345.2(TNNT2):c.163+5G>A rs727504254
NM_001276345.2(TNNT2):c.199+14G>A rs876657590
NM_001276345.2(TNNT2):c.208A>C (p.Met70Leu) rs141837529
NM_001276345.2(TNNT2):c.228G>C (p.Lys76Asn) rs727504869
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg) rs727504255
NM_001276345.2(TNNT2):c.279G>C (p.Glu93Asp) rs727503514
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr) rs397516452
NM_001276345.2(TNNT2):c.282A>T (p.Arg94Ser) rs397516453
NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu) rs397516454
NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu) rs397516454
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val) rs397516458
NM_001276345.2(TNNT2):c.316_318del (p.Glu106del) rs727504277
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.329A>G (p.Asn110Ser) rs727505027
NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr) rs876658027
NM_001276345.2(TNNT2):c.355C>T (p.His119Tyr) rs397516460
NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) rs397516461
NM_001276345.2(TNNT2):c.412-6_412-4del rs397516462
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) rs397516464
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) rs74315379
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.487G>A (p.Ala163Thr) rs727505030
NM_001276345.2(TNNT2):c.503G>A (p.Arg168Gln) rs397516468
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln) rs45501500
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly) rs727503512
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.560C>A (p.Ala187Asp) rs397516473
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe) rs201270895
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.573G>T (p.Met191Ile) rs876658028
NM_001276345.2(TNNT2):c.581T>C (p.Phe194Ser) rs1553281172
NM_001276345.2(TNNT2):c.601-8C>A rs397516475
NM_001276345.2(TNNT2):c.628A>G (p.Lys210Glu) rs727503511
NM_001276345.2(TNNT2):c.638C>T (p.Thr213Ile) rs397516476
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro) rs121964860
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.679A>G (p.Lys227Glu) rs397516478
NM_001276345.2(TNNT2):c.682G>T (p.Val228Leu) rs397516479
NM_001276345.2(TNNT2):c.719+13A>C rs563883763
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys) rs727504488
NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) rs376923877
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001276345.2(TNNT2):c.851+1G>T rs111377893
NM_001276345.2(TNNT2):c.854C>A (p.Ser285Tyr) rs876658029
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001276345.2(TNNT2):c.866G>A (p.Gly289Glu) rs727505233
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) rs730881116
NM_001276345.2(TNNT2):c.97G>A (p.Glu33Lys) rs377474357
NM_001277115.2(DNAH11):c.10009A>C (p.Ile3337Leu) rs145645790
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu) rs398123604
NM_001277115.2(DNAH11):c.11186A>T (p.Tyr3729Phe) rs727502970
NM_001277115.2(DNAH11):c.11202+7C>A rs73279826
NM_001277115.2(DNAH11):c.12466del (p.Leu4156fs) rs1554292398
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile) rs12537531
NM_001277115.2(DNAH11):c.12708T>C (p.Asn4236=) rs775042712
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=) rs56333627
NM_001277115.2(DNAH11):c.13263G>C (p.Pro4421=) rs72658834
NM_001277115.2(DNAH11):c.4984G>C (p.Asp1662His) rs778565448
NM_001277115.2(DNAH11):c.5537T>A (p.Val1846Asp) rs727502968
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His) rs727505321
NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer) rs797045086
NM_001277115.2(DNAH11):c.7626G>A (p.Thr2542=) rs2072221
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=) rs6965750
NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del
NM_001277269.2(OTOG):c.4198_4215del (p.Lys1400_Ala1405del) rs876657940
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001278716.2(FBXL4):c.1012G>T (p.Glu338Ter) rs1582402094
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001286445.3(RIPOR2):c.114G>C (p.Ser38=) rs2295197
NM_001286445.3(RIPOR2):c.2284A>G (p.Met762Val) rs1295551353
NM_001286445.3(RIPOR2):c.2579T>C (p.Val860Ala) rs1581507142
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) rs145166802
NM_001289808.2(CRYAB):c.265C>T (p.Leu89Phe) rs797044515
NM_001289808.2(CRYAB):c.353T>C (p.Phe118Ser) rs876657766
NM_001289808.2(CRYAB):c.370A>G (p.Ile124Val) rs876657444
NM_001289808.2(CRYAB):c.42C>T (p.Phe14=) rs876657445
NM_001289808.2(CRYAB):c.510C>T (p.Thr170=) rs147970333
NM_001290321.3(DMXL1):c.4970+24del rs11301800
NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu) rs6847454
NM_001291303.3(FAT4):c.6700C>T (p.Arg2234Ter) rs567305960
NM_001292063.2(OTOG):c.-14_-13delinsGA rs876657677
NM_001292063.2(OTOG):c.1024C>T (p.Leu342=) rs876657550
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr) rs191354103
NM_001292063.2(OTOG):c.1353C>A (p.Phe451Leu) rs189947237
NM_001292063.2(OTOG):c.1455A>G (p.Thr485=) rs1554968896
NM_001292063.2(OTOG):c.14C>T (p.Ala5Val) rs1018902503
NM_001292063.2(OTOG):c.1563C>G (p.Pro521=) rs749836896
NM_001292063.2(OTOG):c.16T>C (p.Ser6Pro) rs773298682
NM_001292063.2(OTOG):c.1955+4C>A rs757779986
NM_001292063.2(OTOG):c.2387T>C (p.Val796Ala) rs1554970485
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.2487-5dup rs562652501
NM_001292063.2(OTOG):c.2723G>T (p.Arg908Leu) rs144060182
NM_001292063.2(OTOG):c.2832C>T (p.Phe944=) rs876657553
NM_001292063.2(OTOG):c.2939G>C (p.Arg980Pro) rs876657938
NM_001292063.2(OTOG):c.3289-8C>G rs12792504
NM_001292063.2(OTOG):c.379C>T (p.Gln127Ter) rs1851981434
NM_001292063.2(OTOG):c.3939C>T (p.Ala1313=) rs1554974304
NM_001292063.2(OTOG):c.395C>T (p.Ala132Val) rs766172178
NM_001292063.2(OTOG):c.4060C>A (p.Pro1354Thr) rs1554974319
NM_001292063.2(OTOG):c.4156G>A (p.Asp1386Asn) rs876657939
NM_001292063.2(OTOG):c.459G>T (p.Gly153=) rs1554967816
NM_001292063.2(OTOG):c.4821G>A (p.Ser1607=) rs369768224
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5220A>C (p.Pro1740=) rs959286824
NM_001292063.2(OTOG):c.527G>C (p.Ser176Thr) rs876657556
NM_001292063.2(OTOG):c.5408C>A (p.Pro1803His) rs1853511496
NM_001292063.2(OTOG):c.5459C>G (p.Ala1820Gly) rs1003490
NM_001292063.2(OTOG):c.5459C>T (p.Ala1820Val) rs1003490
NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter) rs2134091591
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu) rs188527711
NM_001292063.2(OTOG):c.6181G>T (p.Val2061Leu) rs748497956
NM_001292063.2(OTOG):c.6293-3C>G rs201371081
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001292063.2(OTOG):c.7147G>A (p.Gly2383Arg) rs866627770
NM_001292063.2(OTOG):c.7261A>G (p.Lys2421Glu) rs876657941
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7364C>A (p.Thr2455Asn) rs1554979068
NM_001292063.2(OTOG):c.7585+2T>C rs1401870617
NM_001292063.2(OTOG):c.7722C>A (p.Pro2574=) rs1260956852
NM_001292063.2(OTOG):c.8018_8019delinsAT (p.Ala2673Asp) rs876657945
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978
NM_001292063.2(OTOG):c.8191-12C>A rs11828989
NM_001292063.2(OTOG):c.8298C>A (p.Pro2766=) rs569159135
NM_001292063.2(OTOG):c.938C>T (p.Pro313Leu) rs767555421
NM_001308093.3(GATA4):c.702G>A (p.Thr234=) rs55788387
NM_001314025.2(YBEY):c.210+8_210+12dup rs58271568
NM_001317778.2(SFTPC):c.42+14C>T rs375113623
NM_001318895.3(FHL2):c.284A>G (p.Asn95Ser) rs727505151
NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys) rs397517959
NM_001318895.3(FHL2):c.595C>A (p.Arg199Ser) rs373259092
NM_001318895.3(FHL2):c.62T>A (p.Leu21Gln) rs755805016
NM_001318895.3(FHL2):c.671G>T (p.Cys224Phe) rs727504994
NM_001318895.3(FHL2):c.678C>A (p.Asn226Lys) rs137869171
NM_001318895.3(FHL2):c.81C>A (p.Tyr27Ter) rs727503060
NM_001319206.4(MEF2A):c.1253AGC[9] (p.Gln427_Gln428del) rs3138597
NM_001323572.2(CCP110):c.1749A>G (p.Lys583=) rs17227190
NM_001330.5(CTF1):c.102G>A (p.Ala34=) rs727504837
NM_001330.5(CTF1):c.319C>T (p.Arg107Cys) rs727502950
NM_001330542.2(HEXD):c.632-13G>T rs4789777
NM_001330691.3(CEP78):c.485A>G (p.Asp162Gly) rs1826169363
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) rs1555985649
NM_001347886.2(DNAH3):c.3291A>C (p.Ala1097=) rs861424
NM_001349338.3(FOXP1):c.274G>C (p.Ala92Pro) rs1388674903
NM_001352027.3(PHF21A):c.1685-3del rs35995547
NM_001352027.3(PHF21A):c.1685-4_1685-3del rs35995547
NM_001354604.2(MITF):c.1040G>A (p.Arg347His) rs1195515853
NM_001354604.2(MITF):c.1043G>A (p.Trp348Ter) rs876657698
NM_001354604.2(MITF):c.105-12789C>T rs761597919
NM_001354604.2(MITF):c.1050G>A (p.Lys350=) rs201348324
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) rs876657699
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) rs202020443
NM_001354604.2(MITF):c.1202C>T (p.Ala401Val) rs1553706163
NM_001354604.2(MITF):c.452A>C (p.His151Pro) rs1576004813
NM_001354604.2(MITF):c.60G>T (p.Glu20Asp) rs780642512
NM_001354604.2(MITF):c.639C>G (p.Asn213Lys) rs137944487
NM_001354604.2(MITF):c.704C>G (p.Ser235Ter) rs876657700
NM_001354604.2(MITF):c.773_785dup (p.Asp263fs) rs1553703619
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001363118.2(SLC52A2):c.627T>G (p.Ala209=) rs782019841
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.3416-1G>A rs2141143881
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) rs200070962
NM_001366385.1(CARD14):c.2219+14T>A rs8069255
NM_001367479.1(DNAH14):c.12593T>C (p.Leu4198Pro) rs3856154
NM_001367479.1(DNAH14):c.2792C>A (p.Ala931Asp) rs115366080
NM_001367479.1(DNAH14):c.3295A>T (p.Asn1099Tyr) rs3128655
NM_001368067.1(LDB3):c.324G>T (p.Val108=) rs397516556
NM_001368067.1(LDB3):c.327A>G (p.Val109=) rs876657489
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001368067.1(LDB3):c.775C>G (p.Arg259Gly) rs397516560
NM_001368397.1(FRMPD4):c.1287+26del rs746601138
NM_001369.3(DNAH5):c.10545A>G (p.Lys3515=) rs727502972
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs) rs774493427
NM_001369.3(DNAH5):c.2578-10_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-8_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.5272-15del rs35337694
NM_001369.3(DNAH5):c.5272-16_5272-15del rs35337694
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=) rs876657454
NM_001369.3(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del) rs727502975
NM_001369.3(DNAH5):c.8128G>A (p.Gly2710Ser) rs1219540537
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001370.2(DNAH6):c.11430C>T (p.Ile3810=) rs1192395
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.307del (p.Leu103fs) rs794728639
NM_001370259.2(MEN1):c.655-6C>A rs77461664
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001371333.1(DIABLO):c.-9C>G rs755788729
NM_001371333.1(DIABLO):c.291T>G (p.Ile97Met) rs876657775
NM_001371333.1(DIABLO):c.634_635del (p.Gln212fs) rs1430893033
NM_001371533.1(FUT8):c.570G>A (p.Leu190=) rs35137471
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001372.4(DNAH9):c.3369T>C (p.Asp1123=) rs8071438
NM_001372.4(DNAH9):c.7513G>T (p.Val2505Leu) rs61744697
NM_001372.4(DNAH9):c.9744C>G (p.Pro3248=) rs12449553
NM_001372044.2(SHANK3):c.3664C>T (p.Gln1222Ter) rs751604326
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001372106.1(DNAH10):c.5245T>G (p.Leu1749Val) rs4930729
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) rs397507473
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[5] rs60484081
NM_001374736.1(DST):c.14071T>G (p.Leu4691Val) rs1060499855
NM_001374828.1(ARID1B):c.2907G>A (p.Met969Ile) rs1060499843
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter) rs1794042593
NM_001375567.1(FOCAD):c.2625+11G>A rs2383156
NM_001376256.1(CRYM):c.279G>A (p.Gln93=) rs876657446
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu) rs386789728
NM_001376256.1(CRYM):c.662C>T (p.Ala221Val) rs876657447
NM_001376256.1(CRYM):c.864C>G (p.Thr288=) rs14122
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs) rs767206815
NM_001377321.1(ABCA10):c.4515_4516del (p.Gln1506fs) rs3842375
NM_001377405.1(ATXN7):c.89AGC[12] (p.Gln38_Gln39dup) rs193922929
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=) rs1335438080
NM_001378454.1(ALMS1):c.10869G>C (p.Leu3623=) rs775336312
NM_001378454.1(ALMS1):c.10870T>C (p.Ser3624Pro) rs1573030477
NM_001378454.1(ALMS1):c.1093G>A (p.Asp365Asn) rs1229379546
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs) rs2103771766
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.3325C>A (p.Gln1109Lys) rs1671890891
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu) rs757303904
NM_001378454.1(ALMS1):c.3731A>T (p.Lys1244Met) rs1671903375
NM_001378454.1(ALMS1):c.384A>G (p.Thr128=) rs1671018024
NM_001378454.1(ALMS1):c.4111A>G (p.Thr1371Ala) rs1572934899
NM_001378454.1(ALMS1):c.4808C>G (p.Pro1603Arg) rs1572935792
NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=) rs1572936704
NM_001378454.1(ALMS1):c.5602C>A (p.Leu1868Ile) rs1553404102
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del) rs754175473
NM_001378454.1(ALMS1):c.8122A>G (p.Met2708Val) rs371904071
NM_001378454.1(ALMS1):c.8160C>T (p.His2720=) rs992844961
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=) rs1572970207
NM_001378469.1(BRAF):c.1178-35T>C rs397516887
NM_001378469.1(BRAF):c.1178-61A>G rs397516886
NM_001378609.3(OTOGL):c.1077C>T (p.Cys359=) rs876657559
NM_001378609.3(OTOGL):c.1350A>G (p.Leu450=) rs557104053
NM_001378609.3(OTOGL):c.1582G>A (p.Glu528Lys) rs876657942
NM_001378609.3(OTOGL):c.1892C>G (p.Ser631Cys) rs373638514
NM_001378609.3(OTOGL):c.2391-12T>C rs876657560
NM_001378609.3(OTOGL):c.3081dup (p.Leu1028fs) rs764178233
NM_001378609.3(OTOGL):c.3168G>A (p.Trp1056Ter) rs2137737853
NM_001378609.3(OTOGL):c.3323C>T (p.Ala1108Val) rs1592682793
NM_001378609.3(OTOGL):c.335-9del rs754987281
NM_001378609.3(OTOGL):c.3605G>A (p.Cys1202Tyr) rs876657948
NM_001378609.3(OTOGL):c.3889T>A (p.Trp1297Arg) rs148064564
NM_001378609.3(OTOGL):c.3935A>C (p.His1312Pro) rs768575822
NM_001378609.3(OTOGL):c.4279+3_4279+6del rs1592713988
NM_001378609.3(OTOGL):c.4312A>G (p.Met1438Val) rs1555298321
NM_001378609.3(OTOGL):c.4744-5del rs11300714
NM_001378609.3(OTOGL):c.4846C>A (p.Arg1616=) rs536538111
NM_001378609.3(OTOGL):c.5020_5024del (p.Asn1674fs) rs1592726662
NM_001378609.3(OTOGL):c.5341del (p.Ser1781fs) rs772723774
NM_001378609.3(OTOGL):c.6055C>A (p.His2019Asn) rs201869161
NM_001378609.3(OTOGL):c.6748G>C (p.Val2250Leu) rs77741668
NM_001378609.3(OTOGL):c.6922G>A (p.Glu2308Lys) rs1891257108
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658
NM_001379180.1(ESRRB):c.*1402C>A rs1595180187
NM_001379180.1(ESRRB):c.*1559A>G rs776268469
NM_001379180.1(ESRRB):c.*2241dup rs1555345959
NM_001379180.1(ESRRB):c.1011dup (p.Leu338fs) rs1555344820
NM_001379180.1(ESRRB):c.1088_1089del (p.Val363fs) rs876657643
NM_001379180.1(ESRRB):c.1224G>A (p.Trp408Ter) rs727503041
NM_001379180.1(ESRRB):c.1259del (p.Leu420fs) rs876657807
NM_001379180.1(ESRRB):c.1268_1272del (p.Thr423fs) rs727504577
NM_001379180.1(ESRRB):c.312C>A (p.Ile104=) rs1555397494
NM_001379180.1(ESRRB):c.460+5G>A rs876657808
NM_001379180.1(ESRRB):c.533C>T (p.Ala178Val) rs1368040979
NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser) rs886050806
NM_001379180.1(ESRRB):c.808C>T (p.Arg270Ter) rs202023138
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379500.1(COL18A1):c.107-12645dup rs752078007
NM_001379500.1(COL18A1):c.1335_1336dup (p.Gly446fs) rs2145934671
NM_001379500.1(COL18A1):c.2961_2969dup (p.985GPP[5]) rs776751637
NM_001382391.1(CSPP1):c.2128+36del rs11296619
NM_001382567.1(STIM1):c.7G>A (p.Val3Ile) rs1060499904
NM_001384140.1(PCDH15):c.*14A>G rs876657950
NM_001384140.1(PCDH15):c.1045C>G (p.Leu349Val) rs1554841242
NM_001384140.1(PCDH15):c.1102G>A (p.Glu368Lys) rs1554833865
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly) rs199786639
NM_001384140.1(PCDH15):c.1537T>C (p.Ser513Pro) rs876657951
NM_001384140.1(PCDH15):c.1590+17_1590+21del rs202125339
NM_001384140.1(PCDH15):c.1590+20= rs7093302
NM_001384140.1(PCDH15):c.169G>A (p.Val57Met) rs1589122156
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.1784+11T>G rs769008985
NM_001384140.1(PCDH15):c.1917+13GT[10] rs5785040
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384140.1(PCDH15):c.1998-13G>A rs727504616
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2691G>C (p.Glu897Asp) rs876657952
NM_001384140.1(PCDH15):c.2721T>G (p.Pro907=) rs727504835
NM_001384140.1(PCDH15):c.2769T>C (p.Pro923=) rs727503366
NM_001384140.1(PCDH15):c.2859A>C (p.Ala953=) rs375965861
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.3327T>C (p.Ala1109=) rs1554871942
NM_001384140.1(PCDH15):c.3373+3A>G rs397517456
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3498G>A (p.Val1166=) rs1554852336
NM_001384140.1(PCDH15):c.3502-14del rs5785023
NM_001384140.1(PCDH15):c.3502-14dup rs5785023
NM_001384140.1(PCDH15):c.3579A>C (p.Glu1193Asp) rs1564640040
NM_001384140.1(PCDH15):c.3585T>C (p.Phe1195=) rs397517457
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384140.1(PCDH15):c.4213C>G (p.Arg1405Gly) rs148046721
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys) rs397517459
NM_001384140.1(PCDH15):c.4343_4344del (p.Leu1447_Tyr1448insTer) rs1588967380
NM_001384140.1(PCDH15):c.462C>T (p.Ala154=) rs1344094704
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del) rs561144747
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_001384140.1(PCDH15):c.4671+1033dup rs1554815895
NM_001384140.1(PCDH15):c.4671+1066_4671+1068del rs1554815871
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del rs483353074
NM_001384140.1(PCDH15):c.4671+1206G>T rs1588875434
NM_001384140.1(PCDH15):c.4671+1256del rs1404094905
NM_001384140.1(PCDH15):c.4671+1344_4671+1345delinsCC rs1554815737
NM_001384140.1(PCDH15):c.4671+1345G>C rs531574437
NM_001384140.1(PCDH15):c.4671+1418T>C rs730880021
NM_001384140.1(PCDH15):c.4671+1595GAA[3] rs730880019
NM_001384140.1(PCDH15):c.4672-1607delinsAGT rs730880020
NM_001384140.1(PCDH15):c.4672-1657del rs876657949
NM_001384140.1(PCDH15):c.4728_4730dup (p.Thr1577dup) rs143978284
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer) rs770322907
NM_001384140.1(PCDH15):c.947C>T (p.Pro316Leu) rs397517469
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
NM_001384474.1(LOXHD1):c.1134+11C>T rs727503149
NM_001384474.1(LOXHD1):c.1134+12C>G rs1555684960
NM_001384474.1(LOXHD1):c.1158T>G (p.Thr386=) rs727503148
NM_001384474.1(LOXHD1):c.1170G>A (p.Gln390=) rs876657492
NM_001384474.1(LOXHD1):c.130+4C>A rs1024865273
NM_001384474.1(LOXHD1):c.131-11_131-10delinsAA rs876657857
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1810-6C>G rs199804946
NM_001384474.1(LOXHD1):c.1894G>A (p.Gly632Ser) rs35088381
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_001384474.1(LOXHD1):c.2244+2T>G rs1555681351
NM_001384474.1(LOXHD1):c.2251C>A (p.Arg751=) rs376539851
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2303del (p.Gly768fs) rs727503146
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln) rs745683775
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.2916AGAGGAGGA[1] (p.Glu976_Glu978del) rs765944082
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter) rs1555679863
NM_001384474.1(LOXHD1):c.3282C>T (p.Asp1094=) rs1431897813
NM_001384474.1(LOXHD1):c.3619+9G>A rs576031049
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_001384474.1(LOXHD1):c.4000G>A (p.Asp1334Asn) rs1555673818
NM_001384474.1(LOXHD1):c.4045G>T (p.Glu1349Ter) rs2144321916
NM_001384474.1(LOXHD1):c.4090G>T (p.Val1364Leu) rs144935513
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_001384474.1(LOXHD1):c.4212+14T>G rs1555672903
NM_001384474.1(LOXHD1):c.4240G>T (p.Asp1414Tyr) rs750155249
NM_001384474.1(LOXHD1):c.4423G>T (p.Gly1475Trp) rs779091317
NM_001384474.1(LOXHD1):c.4525G>A (p.Gly1509Arg) rs727505320
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.4742A>G (p.Glu1581Gly) rs1555670255
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_001384474.1(LOXHD1):c.4877-3C>A rs876657861
NM_001384474.1(LOXHD1):c.4923G>A (p.Ala1641=) rs761707142
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.5070C>A (p.Ile1690=) rs1265155697
NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs) rs876657855
NM_001384474.1(LOXHD1):c.512-19TC[3] rs876657676
NM_001384474.1(LOXHD1):c.5911G>A (p.Asp1971Asn) rs727504544
NM_001384474.1(LOXHD1):c.5922C>A (p.Asp1974Glu) rs1598827375
NM_001384474.1(LOXHD1):c.601G>A (p.Gly201Arg) rs727504992
NM_001384474.1(LOXHD1):c.621G>C (p.Arg207Ser) rs200328459
NM_001384474.1(LOXHD1):c.6268C>T (p.Arg2090Trp) rs569341831
NM_001384474.1(LOXHD1):c.6314C>A (p.Thr2105Asn) rs1555653083
NM_001384474.1(LOXHD1):c.6379AGGAAG[3] (p.2127RK[3]) rs1555651404
NM_001384474.1(LOXHD1):c.6710T>G (p.Val2237Gly) rs1555651054
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs) rs2150435584
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter) rs762334514
NM_001386795.1(DTNA):c.148+7A>G rs397517445
NM_001386795.1(DTNA):c.1743+2112G>C rs876657802
NM_001386795.1(DTNA):c.1744-10G>A rs192561043
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) rs200246467
NM_001386795.1(DTNA):c.1770C>A (p.Ser590=) rs570093404
NM_001386795.1(DTNA):c.189G>A (p.Arg63=) rs727505106
NM_001386795.1(DTNA):c.1971T>G (p.Ser657=) rs199855849
NM_001386795.1(DTNA):c.231C>T (p.Asn77=) rs147759402
NM_001386795.1(DTNA):c.953C>A (p.Pro318His) rs727505085
NM_001393500.2(TOMT):c.573C>G (p.Asp191Glu) rs397516627
NM_001393500.2(TOMT):c.66C>G (p.His22Gln) rs727503152
NM_001394372.1(BICRA):c.3077-2_3077del rs745483989
NM_001395426.1(PDE4DIP):c.927del (p.Glu309fs) rs3215779
NM_001395460.1(TENM2):c.1310-5_1310-4dup rs11411759
NM_001395978.1(TPTE2):c.393-11_393-10del rs71092363
NM_001399.4(EDA):c.(?_-115)_(174_?)del
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup
NM_001399.4(EDA):c.(?_397)_(502_?)del
NM_001399.4(EDA):c.(?_397-304)_(460_?)del
NM_001399.4(EDA):c.(?_503)-88_(1176_?)del
NM_001399.4(EDA):c.(?_707)_(741_?)del
NM_001399.4(EDA):c.(?_925)_(1176_?)del
NM_001399.5(EDA):c.1001G>C (p.Arg334Pro) rs142948132
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.1070G>C (p.Arg357Pro) rs61747506
NM_001399.5(EDA):c.1087A>G (p.Lys363Glu) rs397516653
NM_001399.5(EDA):c.1127A>G (p.His376Arg) rs1556111035
NM_001399.5(EDA):c.1151G>C (p.Arg384Thr) rs397516655
NM_001399.5(EDA):c.132_135dup (p.Phe46fs) rs727505089
NM_001399.5(EDA):c.164T>A (p.Leu55Gln) rs397516657
NM_001399.5(EDA):c.173_175del (p.Leu58del) rs397516658
NM_001399.5(EDA):c.201G>T (p.Glu67Asp) rs727505160
NM_001399.5(EDA):c.272dup (p.Ser91fs) rs397516656
NM_001399.5(EDA):c.2T>C (p.Met1Thr) rs397516659
NM_001399.5(EDA):c.319_322dup (p.Gln108fs) rs876657684
NM_001399.5(EDA):c.329C>A (p.Ser110Ter) rs397516660
NM_001399.5(EDA):c.347T>A (p.Leu116Ter) rs397516661
NM_001399.5(EDA):c.396+1G>A rs727504537
NM_001399.5(EDA):c.396+2T>G rs727504814
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.467G>T (p.Arg156Leu) rs132630314
NM_001399.5(EDA):c.474A>C (p.Lys158Asn) rs727504649
NM_001399.5(EDA):c.477A>T (p.Arg159Ser) rs876657640
NM_001399.5(EDA):c.502+1G>A rs727505013
NM_001399.5(EDA):c.526+5G>T rs397516664
NM_001399.5(EDA):c.527-6T>G rs876657803
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del) rs397516666
NM_001399.5(EDA):c.562_589del (p.Pro188fs) rs397516667
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001399.5(EDA):c.599C>A (p.Pro200Gln) rs397516669
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) rs876657685
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.663_697del (p.Pro222fs) rs397516670
NM_001399.5(EDA):c.676C>T (p.Gln226Ter) rs727503007
NM_001399.5(EDA):c.730C>T (p.Arg244Ter) rs397516672
NM_001399.5(EDA):c.740A>G (p.Gln247Arg) rs397516673
NM_001399.5(EDA):c.742-14T>G rs727504762
NM_001399.5(EDA):c.742-18T>G rs727504865
NM_001399.5(EDA):c.766C>T (p.Gln256Ter) rs727504417
NM_001399.5(EDA):c.793G>A (p.Asp265Asn) rs397516674
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.809del (p.Val270fs) rs727503008
NM_001399.5(EDA):c.822G>A (p.Trp274Ter) rs397516675
NM_001399.5(EDA):c.822G>T (p.Trp274Cys) rs397516675
NM_001399.5(EDA):c.822del (p.Trp274fs) rs397516676
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001399.5(EDA):c.881A>T (p.Glu294Val) rs397516678
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) rs397516681
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) rs876657642
NM_001399.5(EDA):c.917A>T (p.Gln306Leu) rs727503009
NM_001399.5(EDA):c.948del (p.Phe317fs) rs727503010
NM_001399.5(EDA):c.960T>G (p.Tyr320Ter) rs876657687
NM_001399.5(EDA):c.961G>T (p.Glu321Ter) rs397516682
NM_001399.5(EDA):c.991C>T (p.Gln331Ter) rs727503011
NM_001426.4(EN1):c.228A>C (p.Pro76=) rs749569923
NM_001429.4(EP300):c.2997+1G>A rs1169505007
NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer) rs2059050320
NM_001433.5(ERN1):c.283-19_283-18dup rs5821420
NM_001451.2(FOXF1):c.(?_15)_(*58_?)del
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.5(FLNC):c.1471G>C (p.Val491Leu) rs770264114
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001481.3(GAS8):c.*9dup rs3833069
NM_001481.3(GAS8):c.1395A>G (p.Thr465=) rs3743825
NM_001563.4(IMPG1):c.907C>T (p.Gln303Ter) rs1366194463
NM_001613.4(ACTA2):c.338A>C (p.Asn113Thr) rs397516680
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp) rs113262912
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.1041C>T (p.Ala347=) rs375903517
NM_001614.5(ACTG1):c.1051A>C (p.Thr351Pro) rs727502880
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.333C>T (p.Asn111=) rs727502884
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) rs876657740
NM_001614.5(ACTG1):c.409C>G (p.Gln137Glu) rs876657741
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.432C>T (p.Ala144=) rs372748659
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln) rs781945750
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.576C>T (p.Ile192=) rs186443800
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.853T>C (p.Cys285Arg) rs727502882
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001614.5(ACTG1):c.996C>A (p.Pro332=) rs200089021
NM_001625.4(AK2):c.*2347G>T rs1045885332
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001692.4(ATP6V1B1):c.1211T>C (p.Met404Thr) rs782107153
NM_001692.4(ATP6V1B1):c.1394G>T (p.Arg465Leu) rs142905621
NM_001692.4(ATP6V1B1):c.317G>A (p.Cys106Tyr) rs727502893
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) rs727505222
NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp) rs876657744
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.904C>A (p.Arg302=) rs876657431
NM_001709.5(BDNF):c.-22+764G>C rs955482595
NM_001735.3(C5):c.4336del (p.Val1446fs) rs1554718962
NM_001750.7(CAST):c.2037+26_2037+28del rs59338324
NM_001754.5(RUNX1):c.98-20_98-18del rs1555899933
NM_001768.7(CD8A):c.192C>A (p.Ala64=) rs2229239
NM_001814.6(CTSC):c.173-7del rs11326739
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) rs1732900321
NM_001844.5(COL2A1):c.1681-2_1681-1del rs1592217071
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001904.4(CTNNB1):c.807del (p.Met271fs) rs2078160286
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.114G>T (p.Ala38=) rs368901105
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) rs727502951
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1226T>C (p.Leu409Pro) rs397516687
NM_001927.4(DES):c.1260C>T (p.Ile420=) rs397516688
NM_001927.4(DES):c.127A>G (p.Lys43Glu) rs397516689
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1374C>T (p.Val458=) rs727502952
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.347A>T (p.Asn116Ile) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.376G>T (p.Val126Leu) rs876657770
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.582G>A (p.Leu194=) rs397516696
NM_001927.4(DES):c.639+13_639+15del rs876657448
NM_001927.4(DES):c.709G>A (p.Ala237Thr) rs397516697
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.980A>C (p.Gln327Pro) rs397516700
NM_001943.5(DSG2):c.-11G>A rs727504450
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1109dup (p.Thr371fs) rs1555627118
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp) rs727504748
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1317T>C (p.Ser439=) rs727505064
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile) rs727504533
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.152G>T (p.Trp51Leu) rs397516702
NM_001943.5(DSG2):c.1724A>G (p.Asn575Ser) rs727502988
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2127T>C (p.His709=) rs876657457
NM_001943.5(DSG2):c.216+14_216+15del rs876657458
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr) rs876657792
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile) rs547741894
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) rs727502990
NM_001943.5(DSG2):c.291A>C (p.Pro97=) rs727502983
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) rs397516707
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3198A>G (p.Glu1066=) rs727504601
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.474G>A (p.Val158=) rs397516708
NM_001943.5(DSG2):c.618T>A (p.Ala206=) rs397516710
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter) rs397516712
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) rs772501604
NM_001971.6(CELA1):c.9_10insG (p.Leu4fs) rs377599213
NM_001985.3(ETFB):c.58-57dup rs74357706
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2143C>T (p.Gln715Ter) rs797045090
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2938C>G (p.His980Asp) rs12756586
NM_002029.4(FPR1):c.1037A>C (p.Glu346Ala) rs867228
NM_002029.4(FPR1):c.576T>G (p.Asn192Lys) rs1042229
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002109.6(HARS1):c.1047A>G (p.Glu349=) rs1581504369
NM_002109.6(HARS1):c.174C>G (p.Thr58=) rs761695061
NM_002109.6(HARS1):c.745G>T (p.Val249Leu) rs1223501940
NM_002139.4(RBMX):c.891A>G (p.Thr297=) rs150079822
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs) rs1594427410
NM_002226.5(JAG2):c.37CTG[6] (p.Leu17dup) rs587632836
NM_002230.4(JUP):c.1153A>C (p.Lys385Gln) rs727505135
NM_002230.4(JUP):c.1159-13C>T rs201627219
NM_002230.4(JUP):c.1497+14G>A rs371853838
NM_002230.4(JUP):c.1646C>A (p.Pro549His) rs1555599683
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser) rs397517297
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu) rs397517298
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.4(JUP):c.193G>T (p.Val65Leu) rs727503100
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002249.6(KCNN3):c.1092G>C (p.Leu364=) rs1051614
NM_002249.6(KCNN3):c.200AGC[13] (p.Gln80del) rs3831942
NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[18] (p.Gln77_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[20] (p.Gln75_Gln80dup) rs3831942
NM_002263.4(KIFC1):c.*15_*16dup rs752059822
NM_002292.4(LAMB2):c.3109+1G>T rs888830612
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-4G>A rs200297370
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1020del (p.Gly341fs) rs727504597
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.1093+2538G>A rs1602530706
NM_002294.3(LAMP2):c.1093+2565C>G rs876657846
NM_002294.3(LAMP2):c.1117G>A (p.Asp373Asn) rs727503117
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr) rs727504625
NM_002294.3(LAMP2):c.121del (p.Cys41fs) rs727504600
NM_002294.3(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.184-7C>G rs397516737
NM_002294.3(LAMP2):c.191del (p.Val64fs) rs397516738
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_002294.3(LAMP2):c.333T>C (p.Ile111=) rs397516742
NM_002294.3(LAMP2):c.371C>T (p.Thr124Ile) rs397516744
NM_002294.3(LAMP2):c.398-7T>C rs876657483
NM_002294.3(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.3(LAMP2):c.56T>G (p.Leu19Arg) rs397516745
NM_002294.3(LAMP2):c.602T>C (p.Ile201Thr) rs876657844
NM_002294.3(LAMP2):c.610A>C (p.Thr204Pro) rs876657845
NM_002294.3(LAMP2):c.65-2A>G rs397516743
NM_002294.3(LAMP2):c.672A>G (p.Ser224=) rs397516746
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) rs397516748
NM_002294.3(LAMP2):c.845T>G (p.Leu282Arg) rs397516749
NM_002294.3(LAMP2):c.851_852del (p.Phe284fs) rs727504648
NM_002294.3(LAMP2):c.855C>T (p.Val285=) rs397516750
NM_002294.3(LAMP2):c.864+1G>T rs727503119
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.865-1G>C rs397516752
NM_002294.3(LAMP2):c.865-3C>A rs397516753
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.929-1G>A rs727504262
NM_002294.3(LAMP2):c.999del (p.Glu334fs) rs727504557
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002354.3(EPCAM):c.50C>T (p.Thr17Met) rs116429842
NM_002422.5(MMP3):c.306C>G (p.Thr102=) rs41380244
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_002444.3(MSN):c.511C>T (p.Arg171Trp) rs1057519074
NM_002458.2(MUC5B):c.-3133G>T rs35705950
NM_002458.3(MUC5B):c.1103-11G>C rs56069229
NM_002458.3(MUC5B):c.12967G>T (p.Val4323Phe) rs201326462
NM_002458.3(MUC5B):c.13124C>T (p.Ala4375Val) rs201748966
NM_002458.3(MUC5B):c.13319C>T (p.Pro4440Leu) rs2943516
NM_002458.3(MUC5B):c.13924A>G (p.Ile4642Val) rs188444809
NM_002458.3(MUC5B):c.14491G>A (p.Ala4831Thr) rs187205469
NM_002458.3(MUC5B):c.14586T>C (p.Gly4862=) rs182667095
NM_002458.3(MUC5B):c.1596G>C (p.Leu532=) rs2735709
NM_002458.3(MUC5B):c.2034A>G (p.Val678=) rs72846370
NM_002458.3(MUC5B):c.2377+12CCCTG[3] rs55859402
NM_002458.3(MUC5B):c.3198A>G (p.Ala1066=) rs79118814
NM_002458.3(MUC5B):c.6182C>T (p.Ala2061Val) rs61997210
NM_002458.3(MUC5B):c.7663del (p.Thr2555fs) rs1060499877
NM_002458.3(MUC5B):c.845C>A (p.Ala282Glu) rs371465585
NM_002471.4(MYH6):c.1002+9G>A rs727504680
NM_002471.4(MYH6):c.104C>G (p.Thr35Ser) rs876657875
NM_002471.4(MYH6):c.1112A>G (p.Glu371Gly) rs397516754
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.1328G>C (p.Arg443Pro) rs202096001
NM_002471.4(MYH6):c.1425G>C (p.Glu475Asp) rs397516755
NM_002471.4(MYH6):c.2368A>G (p.Met790Val) rs764284030
NM_002471.4(MYH6):c.245C>T (p.Pro82Leu) rs529427223
NM_002471.4(MYH6):c.2599A>G (p.Lys867Glu) rs397516759
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.4(MYH6):c.3181C>A (p.Leu1061Met) rs727503237
NM_002471.4(MYH6):c.3285G>T (p.Lys1095Asn) rs864309578
NM_002471.4(MYH6):c.3324G>T (p.Lys1108Asn) rs727505164
NM_002471.4(MYH6):c.3369G>A (p.Glu1123=) rs876657517
NM_002471.4(MYH6):c.3382C>T (p.Arg1128Cys) rs727505211
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln) rs543585784
NM_002471.4(MYH6):c.3437dup (p.Glu1147fs) rs397516761
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg) rs564367705
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3857A>T (p.Asn1286Ile) rs772586397
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-7_3979-6del rs796313537
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC rs727503235
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.3995C>T (p.Ala1332Val) rs876657876
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=) rs141062252
NM_002471.4(MYH6):c.4064C>T (p.Ala1355Val) rs397516767
NM_002471.4(MYH6):c.4175+1G>C rs727505128
NM_002471.4(MYH6):c.4207G>A (p.Glu1403Lys) rs769398160
NM_002471.4(MYH6):c.427C>A (p.Arg143=) rs2277473
NM_002471.4(MYH6):c.4359+9T>C rs568461360
NM_002471.4(MYH6):c.4360-7C>G rs58949384
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002471.4(MYH6):c.4430G>A (p.Arg1477His) rs147586142
NM_002471.4(MYH6):c.4595G>A (p.Arg1532His) rs34330111
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.4(MYH6):c.5062G>A (p.Glu1688Lys) rs727504739
NM_002471.4(MYH6):c.5296A>G (p.Met1766Val) rs397516776
NM_002471.4(MYH6):c.5700G>C (p.Lys1900Asn) rs397516778
NM_002471.4(MYH6):c.70C>A (p.Leu24Ile) rs573489857
NM_002471.4(MYH6):c.732C>T (p.Arg244=) rs397516779
NM_002471.4(MYH6):c.799+14G>C rs727505139
NM_002471.4(MYH6):c.879C>G (p.Asn293Lys) rs752600386
NM_002473.6(MYH9):c.1056C>T (p.Ile352=) rs727504861
NM_002473.6(MYH9):c.1209G>A (p.Lys403=) rs2017190244
NM_002473.6(MYH9):c.1260G>C (p.Ala420=) rs369202401
NM_002473.6(MYH9):c.1468GAG[1] (p.Glu491del) rs1556635817
NM_002473.6(MYH9):c.170A>T (p.Glu57Val) rs751041617
NM_002473.6(MYH9):c.1843+12G>C rs150539764
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.2037+14G>T rs727504713
NM_002473.6(MYH9):c.255C>T (p.Asp85=) rs569718443
NM_002473.6(MYH9):c.2766C>G (p.Ala922=) rs727503288
NM_002473.6(MYH9):c.3215C>T (p.Ala1072Val) rs1556631812
NM_002473.6(MYH9):c.3272+3G>T rs1238385506
NM_002473.6(MYH9):c.3876C>A (p.Ser1292=) rs747334129
NM_002473.6(MYH9):c.4095+15G>A rs876657522
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) rs727504829
NM_002473.6(MYH9):c.437T>A (p.Met146Lys) rs727503294
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) rs727503284
NM_002473.6(MYH9):c.4598A>G (p.Gln1533Arg) rs876657892
NM_002473.6(MYH9):c.4716C>T (p.Asp1572=) rs397516780
NM_002473.6(MYH9):c.4971C>G (p.Thr1657=) rs876657523
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp) rs569541375
NM_002473.6(MYH9):c.5225_5239del (p.Gln1742_Glu1746del) rs876657893
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002473.6(MYH9):c.5286C>G (p.Ile1762Met) rs1603482715
NM_002473.6(MYH9):c.5483+4C>G rs56327920
NM_002473.6(MYH9):c.5483+4C>T rs56327920
NM_002473.6(MYH9):c.5484-13G>C rs727505086
NM_002473.6(MYH9):c.5574C>T (p.Ala1858=) rs991435881
NM_002473.6(MYH9):c.5592+11T>C rs753626685
NM_002473.6(MYH9):c.5593-14G>T rs201676960
NM_002473.6(MYH9):c.5766-13_5766-2dup rs1603482655
NM_002473.6(MYH9):c.5766-3del rs141686520
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_002473.6(MYH9):c.5832C>T (p.Asp1944=) rs761625286
NM_002473.6(MYH9):c.637C>T (p.Gln213Ter) rs727503292
NM_002473.6(MYH9):c.659C>T (p.Ala220Val) rs1190062913
NM_002473.6(MYH9):c.859C>T (p.His287Tyr) rs727503291
NM_002473.6(MYH9):c.952A>G (p.Met318Val) rs758951998
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) rs773998062
NM_002474.3(MYH11):c.3778C>T (p.Gln1260Ter) rs1060499879
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.368G>A (p.Arg123Lys) rs727503347
NM_002561.4(P2RX5):c.333del (p.Asn112fs) rs3215407
NM_002570.5(PCSK6):c.1508T>C (p.Val503Ala) rs1060499889
NM_002667.5(PLN):c.14A>G (p.Gln5Arg) rs876657954
NM_002667.5(PLN):c.152T>C (p.Leu51Pro) rs397516783
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) rs111033559
NM_002667.5(PLN):c.2T>C (p.Met1Thr) rs727503374
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002667.5(PLN):c.37dup (p.Arg13fs) rs727503375
NM_002667.5(PLN):c.43G>A (p.Ala15Thr) rs397516785
NM_002667.5(PLN):c.67C>G (p.Gln23Glu) rs876657955
NM_002691.4(POLD1):c.1240A>G (p.Lys414Glu) rs1555790592
NM_002691.4(POLD1):c.1735G>A (p.Glu579Lys) rs1354117345
NM_002691.4(POLD1):c.2154+2T>C rs1555792026
NM_002691.4(POLD1):c.2797G>T (p.Val933Leu) rs764785216
NM_002691.4(POLD1):c.2824C>G (p.Pro942Ala) rs1203736050
NM_002691.4(POLD1):c.3023G>A (p.Arg1008His) rs763747258
NM_002691.4(POLD1):c.487G>T (p.Asp163Tyr) rs753299061
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002700.3(POU4F3):c.256G>C (p.Val86Leu) rs1581278182
NM_002700.3(POU4F3):c.378G>T (p.Thr126=) rs113137300
NM_002700.3(POU4F3):c.384_387dup (p.Ser130fs) rs1581278366
NM_002700.3(POU4F3):c.491C>T (p.Pro164Leu) rs367737951
NM_002700.3(POU4F3):c.709T>G (p.Ser237Ala) rs876657956
NM_002700.3(POU4F3):c.720C>T (p.Asn240=) rs1581278744
NM_002700.3(POU4F3):c.836C>G (p.Thr279Arg) rs762710510
NM_002700.3(POU4F3):c.856A>G (p.Lys286Glu) rs1760435357
NM_002700.3(POU4F3):c.901T>C (p.Ser301Pro) rs1554087691
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys) rs149303333
NM_002700.3(POU4F3):c.96C>A (p.Arg32=) rs1386856370
NM_002734.5(PRKAR1A):c.623del (p.Gly208fs) rs727503379
NM_002755.4(MAP2K1):c.-31dup rs730880340
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.4(MAP2K1):c.292-4C>G rs771407622
NM_002755.4(MAP2K1):c.323G>A (p.Arg108Gln) rs727504819
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.568+1G>A rs730880505
NM_002755.4(MAP2K1):c.569-8C>T rs375614631
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.4(MAP2K1):c.729G>T (p.Gln243His) rs772752167
NM_002755.4(MAP2K1):c.803C>T (p.Ala268Val) rs757459909
NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser) rs397516794
NM_002769.5(PRSS1):c.146G>T (p.Gly49Val) rs138464021
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002772.3(TMPRSS15):c.2042dup (p.Asn682fs) rs1284864421
NM_002834.5(PTPN11):c.119A>G (p.Asp40Gly) rs397516795
NM_002834.5(PTPN11):c.1225-7A>G rs727504397
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1374C>A (p.His458Gln) rs727504393
NM_002834.5(PTPN11):c.1380-4G>T rs750640531
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1448-5C>T rs554790621
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) rs121918458
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1724A>G (p.Asp575Gly) rs397516799
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) rs397507510
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) rs397516802
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.231G>A (p.Leu77=) rs2038063935
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.315A>T (p.Ala105=) rs397516804
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.348T>A (p.His116Gln) rs1482410266
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.624A>G (p.Thr208=) rs864622409
NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala) rs768555552
NM_002834.5(PTPN11):c.661A>T (p.Ile221Leu) rs397516806
NM_002834.5(PTPN11):c.661del (p.Arg220_Ile221insTer) rs397516807
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.831T>C (p.Asn277=) rs876657567
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) rs121918463
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.5(PTPN11):c.858T>A (p.Asp286Glu) rs397516811
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTAGTTACAGTTCAAGAAG rs3215098
NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTAGTTACAGTTCAAGAAT rs3215098
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.25_44dup (p.Ser15fs) rs786204785
NM_002880.3(RAF1):c.(?_-26)-50_(1370_?)+72dup
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.3(RAF1):c.1804-11_1804-7dup rs727503382
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.-298C>T rs727504387
NM_002880.4(RAF1):c.-40C>T rs727503385
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.4(RAF1):c.1314C>T (p.Thr438=) rs147547744
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.1528C>T (p.Leu510Phe) rs397516816
NM_002880.4(RAF1):c.1668+10_1668+11del rs730880997
NM_002880.4(RAF1):c.1695T>C (p.Tyr565=) rs397516817
NM_002880.4(RAF1):c.1708C>G (p.Leu570Val) rs876657966
NM_002880.4(RAF1):c.172A>C (p.Ile58Leu) rs147984543
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.1927C>T (p.Pro643Ser) rs876657967
NM_002880.4(RAF1):c.276A>G (p.Gln92=) rs876657568
NM_002880.4(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_002880.4(RAF1):c.321-14dup rs202103447
NM_002880.4(RAF1):c.329C>T (p.Ala110Val) rs397516819
NM_002880.4(RAF1):c.379C>G (p.Gln127Glu) rs397516820
NM_002880.4(RAF1):c.388T>A (p.Phe130Ile) rs397516821
NM_002880.4(RAF1):c.419A>G (p.Asn140Ser) rs876657968
NM_002880.4(RAF1):c.424G>T (p.Ala142Ser) rs1553614748
NM_002880.4(RAF1):c.512A>G (p.Lys171Arg) rs876657969
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala) rs3730271
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002880.4(RAF1):c.834+8G>A rs727504615
NM_002880.4(RAF1):c.876C>T (p.Ala292=) rs397516831
NM_002906.4(RDX):c.1091-10T>C rs876657572
NM_002906.4(RDX):c.1176G>A (p.Glu392=) rs727505297
NM_002906.4(RDX):c.119G>T (p.Arg40Leu) rs771175890
NM_002906.4(RDX):c.1308del (p.Lys438fs) rs727504709
NM_002906.4(RDX):c.1341C>A (p.His447Gln) rs727503393
NM_002906.4(RDX):c.1410C>A (p.Pro470=) rs577555846
NM_002906.4(RDX):c.354G>T (p.Pro118=) rs144543614
NM_002906.4(RDX):c.630T>C (p.Asn210=) rs1555042471
NM_002906.4(RDX):c.959+3dup rs397516832
NM_002906.4(RDX):c.97-19TGT[3] rs532650829
NM_002951.5(RPN2):c.3_13+18dup rs1064792904
NM_003000.2(SDHB):c.*159_*184delinsGAACCTGTTCCTTTACTTGCCCCAA rs727503414
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.415C>T (p.Leu139Phe) rs397516834
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs) rs1553177688
NM_003000.3(SDHB):c.575G>C (p.Cys192Ser) rs397516835
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys) rs878854582
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003001.5(SDHC):c.21-3_22del rs1553261757
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003019.5(SFTPD):c.199+9G>A rs6413522
NM_003019.5(SFTPD):c.752-19_752-16del rs17880072
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003057.3(SLC22A1):c.1276+9_1276+16del
NM_003068.5(SNAI2):c.606A>G (p.Gly202=) rs370952195
NM_003114.5(SPAG1):c.1338C>G (p.Ala446=) rs2514681
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003193.5(TBCE):c.100+13TG[17] rs10524346
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) rs199599591
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.6(TGFB2):c.739G>A (p.Glu247Lys) rs1558262454
NM_003242.6(TGFBR2):c.-8G>A rs727504344
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) rs727504292
NM_003242.6(TGFBR2):c.1082_1084del (p.Leu361del) rs727503474
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.118G>A (p.Asp40Asn) rs397516837
NM_003242.6(TGFBR2):c.1282G>C (p.Glu428Gln) rs397516838
NM_003242.6(TGFBR2):c.1418C>A (p.Pro473Gln) rs397516839
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) rs397516840
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_003242.6(TGFBR2):c.1570G>T (p.Asp524Tyr) rs727504421
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.297A>G (p.Thr99=) rs727504343
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) rs727503472
NM_003242.6(TGFBR2):c.934G>A (p.Glu312Lys) rs397516841
NM_003242.6(TGFBR2):c.987C>T (p.Ala329=) rs397516492
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala) rs1553651742
NM_003280.3(TNNC1):c.24+1G>A rs727503498
NM_003280.3(TNNC1):c.387G>C (p.Thr129=) rs397516845
NM_003280.3(TNNC1):c.394G>A (p.Asp132Asn) rs397516846
NM_003280.3(TNNC1):c.435C>T (p.Asp145=) rs267607124
NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn) rs397516849
NM_003280.3(TNNC1):c.480G>A (p.Val160=) rs727504896
NM_003280.3(TNNC1):c.5A>G (p.Asp2Gly) rs397516850
NM_003280.3(TNNC1):c.74_82del (p.Asp25_Phe27del) rs727503496
NM_003280.3(TNNC1):c.97G>A (p.Asp33Asn) rs727503494
NM_003319.4(TTN):c.13282+23498dup rs727503644
NM_003319.4(TTN):c.19326_19406del (p.Lys6442_His6469delinsAsn) rs1553713878
NM_003319.4(TTN):c.20966-11dup rs730880371
NM_003319.4(TTN):c.45637dup (p.Thr15213fs) rs876657669
NM_003319.4(TTN):c.50226dup (p.Ser16743fs) rs730880343
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer) rs727503559
NM_003319.4(TTN):c.53810_53833del (p.Gly17937_Ile17944del) rs727504756
NM_003319.4(TTN):c.63583dup (p.Tyr21195fs) rs397517750
NM_003319.4(TTN):c.80003_80028+4del rs1553479603
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_003373.4(VCL):c.659dup (p.Asn220fs) rs397517245
NM_003373.4(VCL):c.670dup (p.Glu224fs) rs876657674
NM_003386.3(ZAN):c.5769dup (p.Arg1924fs) rs1060499917
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003441.4(ZNF141):c.973A>T (p.Thr325Ser) rs114931928
NM_003441.4(ZNF141):c.980C>G (p.Thr327Ser) rs113884485
NM_003476.4(CSRP3):c.-84A>G rs727504617
NM_003476.4(CSRP3):c.-88A>G rs727502947
NM_003476.5(CSRP3):c.219T>C (p.Tyr73=) rs397516852
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) rs367827746
NM_003476.5(CSRP3):c.282-5_285del rs397516855
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro) rs727504905
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp) rs876657767
NM_003476.5(CSRP3):c.456G>A (p.Lys152=) rs397516856
NM_003476.5(CSRP3):c.47C>T (p.Thr16Ile) rs397516857
NM_003476.5(CSRP3):c.508+9T>C rs727504517
NM_003476.5(CSRP3):c.509-3_509-2del rs397516858
NM_003476.5(CSRP3):c.539G>T (p.Gly180Val) rs727504899
NM_003476.5(CSRP3):c.579_582del (p.Lys193fs) rs727502946
NM_003491.4(NAA10):c.47A>C (p.His16Pro) rs2065185202
NM_003560.4(PLA2G6):c.610-1G>T rs1223788672
NM_003573.2(LTBP4):c.304A>G (p.Arg102Gly) rs553283319
NM_003580.4(NSMAF):c.1126-25_1126-23dup rs33942423
NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs) rs2105675391
NM_003661.3(APOL1):c.[1024A>G;1152T>G]
NM_003661.3:c.[1024A>G;1152T>G];[1164_1169delTTATAA]
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn) rs779511911
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_003672.4(CDC14A):c.1755+20C>T rs1252516734
NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg) rs571098288
NM_003672.4(CDC14A):c.374C>G (p.Pro125Arg) rs200941208
NM_003672.4(CDC14A):c.394G>T (p.Ala132Ser) rs1664742874
NM_003673.4(TCAP):c.111-15dup rs397516860
NM_003673.4(TCAP):c.346C>T (p.Leu116=) rs876657586
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003673.4(TCAP):c.388C>A (p.Arg130Ser) rs374886575
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003673.4(TCAP):c.493C>G (p.Gln165Glu) rs397516865
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003803.3(MYOM1):c.1175_1339[3] (p.Asn446_Gly447insValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspLysPheAspValSerPheGlyArgGluGlyGluThrMetSerLeuGlyCysArgValValIleThrProGluIleLysHisPheGlnProGluIleGlnTrpTyrArgAsnValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspL...(Total 360)) rs1598739432
NM_003803.3(MYOM1):c.[64_66delGTGinsCTC;65T>G]
NM_003803.4(MYOM1):c.1022G>C (p.Gly341Ala) rs8099021
NM_003803.4(MYOM1):c.1023-14G>A rs372359086
NM_003803.4(MYOM1):c.1235A>G (p.Asp412Gly) rs767444514
NM_003803.4(MYOM1):c.1340-14del rs554705715
NM_003803.4(MYOM1):c.1668del (p.Trp556fs) rs876657916
NM_003803.4(MYOM1):c.1917C>T (p.Gly639=) rs761762328
NM_003803.4(MYOM1):c.2383C>G (p.Arg795Gly) rs201618512
NM_003803.4(MYOM1):c.2506+15C>G rs1272570164
NM_003803.4(MYOM1):c.2507-22TGT[2] rs147985558
NM_003803.4(MYOM1):c.2697A>C (p.Val899=) rs771666952
NM_003803.4(MYOM1):c.3195C>G (p.Ser1065=) rs185366609
NM_003803.4(MYOM1):c.335T>G (p.Leu112Trp) rs868781965
NM_003803.4(MYOM1):c.3683-9C>T rs1060504725
NM_003803.4(MYOM1):c.476_479del (p.Ile159fs) rs876657920
NM_003803.4(MYOM1):c.5045dup (p.Lys1683fs) rs573184538
NM_003803.4(MYOM1):c.64G>C (p.Val22Leu) rs1791085
NM_003803.4(MYOM1):c.924C>A (p.Val308=) rs536739408
NM_003821.6(RIPK2):c.1029+23_1029+25del rs71268283
NM_003849.4(SUCLG1):c.98-15_98-11del rs56733272
NM_003865.3(HESX1):c.511_512del (p.Gln171fs) rs752434998
NM_003924.4(PHOX2B):c.729_749dup (p.Ala254_Ala260dup) rs772448418
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup) rs779557320
NM_004000.3(CHI3L2):c.952C>T (p.Arg318Trp) rs13721
NM_004004.5(GJB2):c.-208G>T rs1555342246
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) rs72474224
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp) rs104894404
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.280C>T (p.His94Tyr) rs1593351383
NM_004004.6(GJB2):c.281A>T (p.His94Leu) rs397516872
NM_004004.6(GJB2):c.300T>C (p.His100=) rs1317569039
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly) rs111033441
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.384C>T (p.Ile128=) rs111033298
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004004.6(GJB2):c.426C>A (p.Phe142Leu) rs397516877
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.470T>C (p.Met157Thr) rs727504789
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys) rs28929485
NM_004004.6(GJB2):c.523_533del (p.Pro175fs) rs876657693
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004006.2(DMD):c.(?_32)_(649_?)del
NM_004006.2(DMD):c.(?_6439)-24498_(7873_?)-5329del
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.-10A>T rs1557300175
NM_004006.3(DMD):c.1248A>T (p.Glu416Asp) rs876657777
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser) rs766450050
NM_004006.3(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.3(DMD):c.2827C>A (p.Arg943Ser) rs199986217
NM_004006.3(DMD):c.2950-9G>T rs772822759
NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr) rs753639717
NM_004006.3(DMD):c.640G>A (p.Asp214Asn) rs876657781
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup) rs1395996899
NM_004006.3(DMD):c.7464G>A (p.Leu2488=) rs1603464003
NM_004006.3(DMD):c.7653G>A (p.Thr2551=) rs368803197
NM_004006.3(DMD):c.9362-3C>T rs752816247
NM_004006.3(DMD):c.9564-6T>C rs876657453
NM_004035.7(ACOX1):c.1851del (p.Gly618fs) rs797045080
NM_004085.4(TIMM8A):c.-11G>T rs727503478
NM_004085.4(TIMM8A):c.282C>A (p.Ser94Arg) rs1443740723
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004086.3(COCH):c.239+7C>G rs377273539
NM_004086.3(COCH):c.239+80del rs111033189
NM_004086.3(COCH):c.260G>C (p.Gly87Ala) rs1555310861
NM_004100.4(EYA4):c.724_(804_?)del
NM_004100.5(EYA4):c.1097G>A (p.Ser366Asn) rs727503052
NM_004100.5(EYA4):c.1563G>A (p.Leu521=) rs1583528788
NM_004100.5(EYA4):c.1667T>C (p.Leu556Pro) rs1583561006
NM_004100.5(EYA4):c.1739-85_1739-81del rs727503053
NM_004100.5(EYA4):c.237A>G (p.Ala79=) rs727504840
NM_004100.5(EYA4):c.371-2A>C rs876657644
NM_004100.5(EYA4):c.374T>C (p.Ile125Thr) rs770929581
NM_004100.5(EYA4):c.456_459del (p.Ser153fs) rs1583345314
NM_004100.5(EYA4):c.580+14_580+16del rs139659489
NM_004100.5(EYA4):c.744A>G (p.Ser248=) rs397516879
NM_004100.5(EYA4):c.829G>C (p.Gly277Arg) rs9493627
NM_004100.5(EYA4):c.902_907dup (p.Gly302_Thr303insAsnGly) rs727503051
NM_004100.5(EYA4):c.96G>A (p.Met32Ile) rs1792872485
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004230.4(S1PR2):c.1032C>T (p.Pro344=) rs561751764
NM_004230.4(S1PR2):c.919A>C (p.Arg307=) rs2116942
NM_004239.4(TRIP11):c.4834_4837del (p.Lys1612fs) rs1274744069
NM_004259.7(RECQL5):c.1586-6_1586-5insACA rs56158987
NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter) rs377589237
NM_004281.4(BAG3):c.100_107del (p.Thr34fs) rs727505283
NM_004281.4(BAG3):c.1015A>G (p.Ile339Val) rs757353917
NM_004281.4(BAG3):c.1067del (p.Pro356fs) rs727505109
NM_004281.4(BAG3):c.111C>T (p.Pro37=) rs397516880
NM_004281.4(BAG3):c.1274T>A (p.Val425Glu) rs727502901
NM_004281.4(BAG3):c.1344C>T (p.Asp448=) rs727504796
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.4(BAG3):c.180+13C>T rs727504938
NM_004281.4(BAG3):c.200A>G (p.Asn67Ser) rs572036022
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.317G>A (p.Arg106Gln) rs1200121142
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly) rs572038196
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg) rs727502895
NM_004281.4(BAG3):c.55C>A (p.Arg19Ser) rs727502896
NM_004281.4(BAG3):c.695A>T (p.His232Leu) rs746241240
NM_004281.4(BAG3):c.72del (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.910-10C>G rs727502899
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004285.3(H6PD):c.-7_1delCCCAGGCA
NM_004304.5(ALK):c.702T>A (p.Pro234=) rs2246745
NM_004316.4(ASCL1):c.151CAG[11] (p.Gln62del) rs3832799
NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[14] (p.Gln62_Ala63insGlnGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[15] (p.Gln62_Ala63insGlnGlnGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[17] (p.Gln62_Ala63insGlnGlnGlnGlnGln) rs3832799
NM_004320.6(ATP2A1):c.2744+1G>A rs111266804
NM_004333.6(BRAF):c.-95GCCTCC[3] rs727502907
NM_004333.6(BRAF):c.1040G>C (p.Arg347Pro) rs397516884
NM_004333.6(BRAF):c.1055A>G (p.Asp352Gly) rs201882896
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.6(BRAF):c.1203C>T (p.Thr401=) rs370130654
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg) rs121913353
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1405G>T (p.Gly469Ter) rs121913357
NM_004333.6(BRAF):c.1405_1407del (p.Gly469del) rs397516890
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.6(BRAF):c.1488A>C (p.Gln496His) rs1554399258
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln) rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) rs397516894
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys) rs121913340
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) rs121913361
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup) rs727502902
NM_004333.6(BRAF):c.1798G>A (p.Val600Met) rs121913378
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu) rs397516897
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) rs121913364
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1960T>C (p.Leu654=) rs727502905
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.1993-11dup rs759069424
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.2128-6T>A rs397516900
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_004333.6(BRAF):c.527C>T (p.Thr176Ile) rs780556975
NM_004333.6(BRAF):c.653C>G (p.Thr218Ser) rs1554404461
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_004387.4(NKX2-5):c.335-3C>G rs876657934
NM_004387.4(NKX2-5):c.437C>G (p.Ser146Trp) rs397516909
NM_004393.6(DAG1):c.2214C>T (p.Asp738=) rs754599980
NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del
NM_004403.3(GSDME):c.119dup (p.Lys41fs) rs758488919
NM_004407.4(DMP1):c.979C>T (p.Gln327Ter) rs899142959
NM_004409.5(DMPK):c.161-62dup rs751073998
NM_004415.3(DSP):c.8487_8498del12 rs727504704
NM_004415.4(DSP):c.1045-8T>A rs201633815
NM_004415.4(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.4(DSP):c.111C>A (p.Thr37=) rs727502995
NM_004415.4(DSP):c.1141-2A>T rs794728111
NM_004415.4(DSP):c.1146del (p.Phe382fs) rs397516913
NM_004415.4(DSP):c.1263G>A (p.Leu421=) rs727504492
NM_004415.4(DSP):c.1264G>A (p.Glu422Lys) rs397516914
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro) rs727504661
NM_004415.4(DSP):c.1484T>C (p.Val495Ala) rs727504518
NM_004415.4(DSP):c.1517C>T (p.Pro506Leu) rs876657793
NM_004415.4(DSP):c.1527G>T (p.Gly509=) rs397516917
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter) rs727504498
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter) rs397516919
NM_004415.4(DSP):c.1680C>T (p.Ile560=) rs397516920
NM_004415.4(DSP):c.170+11G>T rs727505007
NM_004415.4(DSP):c.170+5G>A rs727502996
NM_004415.4(DSP):c.1751del (p.Glu584fs) rs727505077
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.208_209dup (p.Ile71fs) rs727502993
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.226C>T (p.Gln76Ter) rs1554105614
NM_004415.4(DSP):c.2437-11del rs727502998
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.273del (p.Glu92fs) rs794728136
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro) rs373804924
NM_004415.4(DSP):c.2794-7T>C rs397516926
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2920del (p.Thr974fs) rs727505260
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro) rs397516929
NM_004415.4(DSP):c.3119A>G (p.Glu1040Gly) rs727505147
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3276G>C (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3392G>C (p.Arg1131Thr) rs876657794
NM_004415.4(DSP):c.3434del (p.Ala1145fs) rs1581815603
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter) rs148894066
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.3935C>G (p.Ser1312Cys) rs1554108214
NM_004415.4(DSP):c.3948T>C (p.Ala1316=) rs1554108219
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser) rs138599871
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4156G>A (p.Glu1386Lys) rs397516935
NM_004415.4(DSP):c.4172A>G (p.Tyr1391Cys) rs727504547
NM_004415.4(DSP):c.4245T>A (p.Thr1415=) rs397516936
NM_004415.4(DSP):c.4288A>T (p.Ile1430Phe) rs397516937
NM_004415.4(DSP):c.4371G>A (p.Met1457Ile) rs1169630255
NM_004415.4(DSP):c.4397dup (p.Gln1467fs) rs1581817513
NM_004415.4(DSP):c.4455G>C (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4472A>T (p.Asp1491Val) rs397516938
NM_004415.4(DSP):c.4515G>A (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys) rs727503002
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4899C>G (p.Leu1633=) rs876657459
NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs) rs727504738
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5107A>T (p.Ile1703Phe) rs868035157
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
NM_004415.4(DSP):c.534_535insA (p.Gly179fs) rs397516945
NM_004415.4(DSP):c.5378_5379dup (p.Ala1794fs) rs727502994
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu) rs727504871
NM_004415.4(DSP):c.5767G>A (p.Glu1923Lys) rs397516948
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val) rs876657796
NM_004415.4(DSP):c.6557T>G (p.Leu2186Arg) rs876657797
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.6610C>T (p.Gln2204Ter) rs876657798
NM_004415.4(DSP):c.6654C>G (p.Thr2218=) rs727503005
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr) rs377085222
NM_004415.4(DSP):c.6885A>T (p.Gln2295His) rs397516954
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7275C>G (p.Thr2425=) rs727503006
NM_004415.4(DSP):c.741G>T (p.Ala247=) rs2806234
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7998C>G (p.Gly2666=) rs397516960
NM_004415.4(DSP):c.8020G>A (p.Ala2674Thr) rs397516961
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8320C>T (p.Leu2774=) rs397516964
NM_004415.4(DSP):c.8365A>G (p.Ile2789Val) rs397516965
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4]) rs397516968
NM_004415.4(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_004415.4(DSP):c.8553C>T (p.Asp2851=) rs1554109307
NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs) rs727504909
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.895A>G (p.Ser299Gly) rs876657801
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.927G>T (p.Gln309His) rs876657800
NM_004415.4(DSP):c.939+13dup rs730880360
NM_004415.4(DSP):c.992A>C (p.Gln331Pro) rs746517026
NM_004447.6(EPS8):c.1396C>T (p.His466Tyr) rs747454900
NM_004447.6(EPS8):c.1434+14del rs750651749
NM_004447.6(EPS8):c.1789C>A (p.Arg597Ser) rs754905499
NM_004447.6(EPS8):c.2226-15dup rs35885542
NM_004447.6(EPS8):c.2226-3del rs35885542
NM_004447.6(EPS8):c.525A>G (p.Leu175=) rs1945713991
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) rs397516975
NM_004448.4(ERBB2):c.2314_2325dup (p.Tyr772_Ala775dup) rs397516977
NM_004448.4(ERBB2):c.2320del (p.Met774fs) rs397516978
NM_004448.4(ERBB2):c.2324_2325insCTCCGTGATGGC (p.Ala775_Gly776insSerValMetAla) rs397516976
NM_004448.4(ERBB2):c.2325_2326insTCCGTGATGGCT (p.Ala775_Gly776insSerValMetAla) rs1555618025
NM_004448.4(ERBB2):c.2326_2327insTCT (p.Gly776delinsValCys) rs397516979
NM_004448.4(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) rs397516979
NM_004448.4(ERBB2):c.2326_2327insTTT (p.Gly776delinsValCys) rs397516979
NM_004448.4(ERBB2):c.2326delinsTTAT (p.Gly776delinsLeuCys) rs397516980
NM_004448.4(ERBB2):c.2327G>T (p.Gly776Val) rs144434331
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) rs121913471
NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup) rs397516981
NM_004448.4(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup) rs397516982
NM_004452.3(ESRRB):c.(?_1)_(1527_?)del
NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?)
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004517.4(ILK):c.1285A>G (p.Met429Val) rs1554900131
NM_004517.4(ILK):c.211del (p.Leu71fs) rs776120061
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004568.6(SERPINB6):c.-3A>G rs779093042
NM_004568.6(SERPINB6):c.1042C>T (p.Arg348Cys) rs774270238
NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met) rs538616923
NM_004568.6(SERPINB6):c.343C>G (p.Gln115Glu) rs397516637
NM_004568.6(SERPINB6):c.383A>G (p.Glu128Gly) rs1329989490
NM_004568.6(SERPINB6):c.503A>G (p.Tyr168Cys) rs876657997
NM_004568.6(SERPINB6):c.679G>T (p.Glu227Ter) rs1201327476
NM_004568.6(SERPINB6):c.941A>G (p.Lys314Arg) rs876657582
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004577.4(PSPH):c.275+1del rs139106189
NM_004612.4(TGFBR1):c.1058_1059insCAATA (p.Leu354fs) rs1060499908
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.203A>G (p.Asn68Ser) rs727503469
NM_004612.4(TGFBR1):c.24del (p.Arg9fs) rs1060499907
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys) rs397517032
NM_004612.4(TGFBR1):c.640G>T (p.Gly214Cys) rs727503470
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) rs863223829
NM_004612.4(TGFBR1):c.779T>A (p.Leu260Gln) rs397517033
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp) rs727503471
NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del) rs727504383
NM_004667.6(HERC2):c.836del (p.Gly279fs) rs756835034
NM_004700.4(KCNQ4):c.1017G>T (p.Arg339Ser) rs769086004
NM_004700.4(KCNQ4):c.1042-11dup rs876657480
NM_004700.4(KCNQ4):c.1051C>T (p.Arg351Cys) rs1167593525
NM_004700.4(KCNQ4):c.1130+13G>T rs1553167606
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg) rs368294870
NM_004700.4(KCNQ4):c.1283C>T (p.Pro428Leu) rs932108929
NM_004700.4(KCNQ4):c.1406A>G (p.Gln469Arg) rs1553168273
NM_004700.4(KCNQ4):c.1611C>G (p.Ile537Met) rs876657837
NM_004700.4(KCNQ4):c.1667_1671dup (p.Val558fs) rs1553168601
NM_004700.4(KCNQ4):c.1801G>T (p.Asp601Tyr) rs876657838
NM_004700.4(KCNQ4):c.1954C>G (p.Leu652Val) rs727505133
NM_004700.4(KCNQ4):c.1957G>A (p.Gly653Ser) rs876657839
NM_004700.4(KCNQ4):c.459del (p.Ala154fs) rs727504635
NM_004700.4(KCNQ4):c.699G>C (p.Ala233=) rs727504788
NM_004700.4(KCNQ4):c.720C>G (p.Thr240=) rs752131356
NM_004700.4(KCNQ4):c.751T>C (p.Phe251Leu) rs1000705787
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004700.4(KCNQ4):c.834+12T>C rs1031548085
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.857A>G (p.Tyr286Cys) rs876657841
NM_004817.4(TJP2):c.1035C>A (p.His345Gln) rs144213955
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.1444del (p.Asp482fs) rs727503479
NM_004817.4(TJP2):c.1521-7A>C rs373242928
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu) rs199852211
NM_004817.4(TJP2):c.2865G>A (p.Pro955=) rs727503480
NM_004817.4(TJP2):c.2880+4A>G rs727505327
NM_004817.4(TJP2):c.3500G>A (p.Arg1167His) rs370985421
NM_004824.4(CDYL):c.1332+31dup rs34649909
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) rs776842972
NM_004949.5(DSC2):c.1234dup (p.Thr412fs) rs397517390
NM_004949.5(DSC2):c.630+8_630+10delinsTT rs397517401
NM_004963.4(GUCY2C):c.2158-16dup rs3217210
NM_004963.4(GUCY2C):c.612-11del rs56944147
NM_004985.5(KRAS):c.-148_-137del rs727504386
NM_004985.5(KRAS):c.-163AGC[3] rs397517034
NM_004985.5(KRAS):c.-167A>G rs527326817
NM_004985.5(KRAS):c.-54C>T rs397517036
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.5(KRAS):c.180T>A (p.Gly60=) rs397517037
NM_004985.5(KRAS):c.181C>A (p.Gln61Lys) rs121913238
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) rs121913240
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_004985.5(KRAS):c.214A>T (p.Met72Leu) rs727504662
NM_004985.5(KRAS):c.228G>A (p.Glu76=) rs727503107
NM_004985.5(KRAS):c.290G>A (p.Arg97Lys) rs727503106
NM_004985.5(KRAS):c.33T>C (p.Ala11=) rs397517039
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) rs121913535
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_004985.5(KRAS):c.38G>T (p.Gly13Val) rs112445441
NM_004985.5(KRAS):c.39C>A (p.Gly13=) rs397517040
NM_004985.5(KRAS):c.39C>T (p.Gly13=) rs397517040
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.450+11C>G rs727504633
NM_004985.5(KRAS):c.451-10T>C rs876657481
NM_004985.5(KRAS):c.454G>T (p.Val152Phe) rs397517041
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) rs397517042
NM_004985.5(KRAS):c.466T>G (p.Phe156Val) rs397517042
NM_004985.5(KRAS):c.470A>G (p.Tyr157Cys) rs794727720
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs) rs763461489
NM_004999.4(MYO6):c.-12CCT[1] rs727504951
NM_004999.4(MYO6):c.1250A>G (p.Asn417Ser) rs1554210769
NM_004999.4(MYO6):c.1264G>A (p.Ala422Thr) rs1583287198
NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp) rs727504548
NM_004999.4(MYO6):c.1473+10A>G rs876657531
NM_004999.4(MYO6):c.1516G>T (p.Val506Leu) rs1554211583
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_004999.4(MYO6):c.1695G>C (p.Leu565=) rs111033501
NM_004999.4(MYO6):c.1881CAA[1] (p.Asn628del) rs1233700794
NM_004999.4(MYO6):c.2107G>C (p.Gly703Arg) rs753163582
NM_004999.4(MYO6):c.2111dup (p.Tyr705fs) rs397517045
NM_004999.4(MYO6):c.2170G>C (p.Asp724His) rs397517046
NM_004999.4(MYO6):c.2548C>G (p.Leu850Val) rs397517047
NM_004999.4(MYO6):c.2562T>A (p.Asn854Lys) rs1583365903
NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs) rs1583208411
NM_004999.4(MYO6):c.2733T>C (p.Ser911=) rs1554218577
NM_004999.4(MYO6):c.2779A>G (p.Arg927Gly) rs986223790
NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs) rs876657709
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter) rs876657653
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.2911A>G (p.Arg971Gly) rs397517049
NM_004999.4(MYO6):c.292A>G (p.Asn98Asp) rs876657910
NM_004999.4(MYO6):c.2972G>A (p.Arg991Gln) rs529167250
NM_004999.4(MYO6):c.3207T>C (p.Ala1069=) rs727505051
NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs) rs727505015
NM_004999.4(MYO6):c.3270T>C (p.Asn1090=) rs139395133
NM_004999.4(MYO6):c.3326T>C (p.Leu1109Pro) rs1554222430
NM_004999.4(MYO6):c.3391C>T (p.Pro1131Ser) rs727503327
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp) rs876657911
NM_004999.4(MYO6):c.3644T>C (p.Ile1215Thr) rs1554223853
NM_004999.4(MYO6):c.3646C>G (p.Leu1216Val) rs876657908
NM_004999.4(MYO6):c.3833C>T (p.Ala1278Val) rs397517052
NM_004999.4(MYO6):c.458C>G (p.Ser153Ter) rs876657710
NM_004999.4(MYO6):c.470A>G (p.Lys157Arg) rs397517053
NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr) rs1554205683
NM_004999.4(MYO6):c.558C>A (p.Asn186Lys) rs397517054
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_004999.4(MYO6):c.78del (p.Asp27fs) rs1771411002
NM_004999.4(MYO6):c.951T>C (p.Phe317=) rs397517055
NM_005015.5(OXA1L):c.1256GCA[5] (p.Ser422dup) rs148216086
NM_005144.5(HR):c.2001_2004del (p.Ser667fs) rs1477806230
NM_005159.5(ACTC1):c.*3T>C rs727504415
NM_005159.5(ACTC1):c.1039A>G (p.Ile347Val) rs727505192
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=) rs151321743
NM_005159.5(ACTC1):c.1084C>T (p.Gln362Ter) rs876657738
NM_005159.5(ACTC1):c.186del (p.Ser62fs) rs876657739
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.355G>C (p.Glu119Gln) rs397517060
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met) rs397517061
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005159.5(ACTC1):c.616+1G>A rs111904141
NM_005159.5(ACTC1):c.616+8T>C rs397517066
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.5(ACTC1):c.646G>T (p.Glu216Ter) rs1060499837
NM_005159.5(ACTC1):c.739G>A (p.Gly247Ser) rs727505330
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.798C>T (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.7G>C (p.Asp3His) rs397517069
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.808+3G>A rs397517070
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) rs397517073
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr) rs869025354
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379
NM_005159.5(ACTC1):c.918T>A (p.Thr306=) rs397517074
NM_005186.4(CAPN1):c.1919T>G (p.Met640Arg) rs752166957
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.4(CBL):c.1129A>G (p.Thr377Ala) rs727502914
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.1283_1384del (p.Pro428_Glu461del) rs1555230119
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_005188.4(CBL):c.1962A>G (p.Leu654=) rs727502915
NM_005188.4(CBL):c.2185T>C (p.Cys729Arg) rs1950071650
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys) rs397517081
NM_005219.4(DIAPH1):c.3439-3del rs1335130331
NM_005219.5(DIAPH1):c.1047C>T (p.Asp349=) rs1554208916
NM_005219.5(DIAPH1):c.1460A>G (p.Lys487Arg) rs1596381751
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) rs373413837
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=) rs374236039
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg) rs369255077
NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=) rs756608855
NM_005219.5(DIAPH1):c.2525A>G (p.Gln842Arg) rs200220260
NM_005219.5(DIAPH1):c.3237C>T (p.Ala1079=) rs777308371
NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp) rs763106782
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp) rs761387295
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.621-7T>C rs727502963
NM_005228.5(EGFR):c.2065G>C (p.Val689Leu) rs397517083
NM_005228.5(EGFR):c.2117T>C (p.Ile706Thr) rs397517084
NM_005228.5(EGFR):c.2126A>C (p.Glu709Ala) rs397517085
NM_005228.5(EGFR):c.2126A>G (p.Glu709Gly) rs397517085
NM_005228.5(EGFR):c.2126A>T (p.Glu709Val) rs397517085
NM_005228.5(EGFR):c.2127_2129del (p.Glu709_Thr710delinsAsp) rs397517086
NM_005228.5(EGFR):c.2127_2130delinsC (p.Glu709_Thr710delinsAsp) rs397517087
NM_005228.5(EGFR):c.2154G>A (p.Leu718=) rs397517088
NM_005228.5(EGFR):c.2154G>T (p.Leu718=) rs397517088
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) rs28929495
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) rs28929495
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) rs121913428
NM_005228.5(EGFR):c.2166G>C (p.Ala722=) rs367694667
NM_005228.5(EGFR):c.2192G>A (p.Trp731Ter) rs397517089
NM_005228.5(EGFR):c.2217_2234dup (p.Ile740_Lys745dup) rs397517090
NM_005228.5(EGFR):c.2219T>C (p.Ile740Thr) rs397517092
NM_005228.5(EGFR):c.2230_2249delinsGTCAA (p.Ile744_Ala750delinsValLys) rs727503014
NM_005228.5(EGFR):c.2231_2232insAAAATTCCCGTCGCTA (p.Glu746fs) rs727504326
NM_005228.5(EGFR):c.2232C>T (p.Ile744=) rs397517093
NM_005228.5(EGFR):c.2232_2249delinsAAA (p.Glu746_Ala750del) rs397517094
NM_005228.5(EGFR):c.2232_2250del (p.Lys745fs) rs727504324
NM_005228.5(EGFR):c.2232_2252delinsAAAGTT (p.Glu746_Thr751delinsLeu) rs727504428
NM_005228.5(EGFR):c.2235_2243del (p.Leu747_Glu749del) rs727504266
NM_005228.5(EGFR):c.2235_2248delinsAATTC (p.Glu746_Ala750delinsIlePro) rs727504281
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) rs121913421
NM_005228.5(EGFR):c.2235_2251delinsAATTC (p.Glu746_Thr751delinsIlePro) rs727504332
NM_005228.5(EGFR):c.2236G>C (p.Glu746Gln) rs121913427
NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del) rs727504233
NM_005228.5(EGFR):c.2236_2252delinsAT (p.Glu746_Thr751delinsIle) rs727504402
NM_005228.5(EGFR):c.2237_2246delinsC (p.Glu746_Glu749delinsAla) rs727504444
NM_005228.5(EGFR):c.2237_2248delinsCAC (p.Glu746_Ala750delinsAlaPro) rs727503015
NM_005228.5(EGFR):c.2237_2248delinsCCC (p.Glu746_Ala750delinsAlaPro) rs727503015
NM_005228.5(EGFR):c.2237_2251del (p.Glu746_Thr751delinsAla) rs121913425
NM_005228.5(EGFR):c.2237_2251delinsTTC (p.Glu746_Thr751delinsValPro) rs727503016
NM_005228.5(EGFR):c.2237_2254del (p.Glu746_Ser752delinsAla) rs121913422
NM_005228.5(EGFR):c.2237_2255delinsT (p.Glu746_Ser752delinsVal) rs727504258
NM_005228.5(EGFR):c.2237_2256delinsTC (p.Glu746_Ser752delinsVal) rs121913424
NM_005228.5(EGFR):c.2237_2257delinsTCT (p.Glu746_Pro753delinsValSer) rs727504282
NM_005228.5(EGFR):c.2238_2248delinsGC (p.Leu747_Ala750delinsPro) rs121913435
NM_005228.5(EGFR):c.2238_2251delinsGC (p.Leu747_Thr751delinsPro) rs727504257
NM_005228.5(EGFR):c.2239T>C (p.Leu747=) rs397517095
NM_005228.5(EGFR):c.2239_2240delinsCC (p.Leu747Pro) rs397517096
NM_005228.5(EGFR):c.2239_2247del (p.Leu747_Glu749del) rs121913436
NM_005228.5(EGFR):c.2239_2248delinsC (p.Leu747_Ala750delinsPro) rs727504278
NM_005228.5(EGFR):c.2239_2251delinsC (p.Leu747_Thr751delinsPro) rs397509368
NM_005228.5(EGFR):c.2239_2256del (p.Leu747_Ser752del) rs121913440
NM_005228.5(EGFR):c.2239_2257delinsA (p.Leu747_Pro753delinsThr) rs727504339
NM_005228.5(EGFR):c.2239_2257delinsCAAT (p.Leu747_Pro753delinsGlnSer) rs727504339
NM_005228.5(EGFR):c.2239_2264delinsACGAGAGA (p.Leu747_Ala755delinsThrArgAsp) rs727504414
NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser) rs397517097
NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer) rs397517098
NM_005228.5(EGFR):c.2240_2254del (p.Leu747_Thr751del) rs121913442
NM_005228.5(EGFR):c.2240_2257del (p.Leu747_Pro753delinsSer) rs121913438
NM_005228.5(EGFR):c.2247_2264del (p.Glu749_Ala755delinsAsp) rs397517099
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro) rs121913229
NM_005228.5(EGFR):c.2251_2275del (p.Thr751fs) rs727504284
NM_005228.5(EGFR):c.2251_2277delinsGAT (p.Thr751_Ile759delinsAsp) rs727504395
NM_005228.5(EGFR):c.2252C>T (p.Thr751Ile) rs727504316
NM_005228.5(EGFR):c.2252_2277delinsAA (p.Thr751_Ile759delinsLys) rs397517100
NM_005228.5(EGFR):c.2253_2276del (p.Ser752_Ile759del) rs727504232
NM_005228.5(EGFR):c.2254_2277del (p.Ser752_Ile759del) rs121913463
NM_005228.5(EGFR):c.2260A>G (p.Lys754Glu) rs397517101
NM_005228.5(EGFR):c.2265C>G (p.Ala755=) rs727503017
NM_005228.5(EGFR):c.2270A>T (p.Lys757Met) rs397517102
NM_005228.5(EGFR):c.2277_2278insT (p.Leu760fs) rs727503018
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) rs121913418
NM_005228.5(EGFR):c.2283+12_2283+147del rs1554348955
NM_005228.5(EGFR):c.2283+1G>A rs397517104
NM_005228.5(EGFR):c.2284-5_2290del rs397517105
NM_005228.5(EGFR):c.2284-5_2290dup rs397517106
NM_005228.5(EGFR):c.2292_2293insCATCAC (p.Tyr764_Val765insHisHis) rs1554350337
NM_005228.5(EGFR):c.2300C>T (p.Ala767Val) rs397517107
NM_005228.5(EGFR):c.2300_2308dup (p.Ala767_Val769dup) rs727504263
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005228.5(EGFR):c.2303_2304delinsTT (p.Ser768Ile) rs397517108
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) rs397517109
NM_005228.5(EGFR):c.2305G>C (p.Val769Leu) rs147149347
NM_005228.5(EGFR):c.2305G>T (p.Val769Leu) rs147149347
NM_005228.5(EGFR):c.2307_2315dup (p.Asp770_Pro772dup) rs730880333
NM_005228.5(EGFR):c.2308_2309insGTT (p.Asp770delinsGlyTyr) rs1554350347
NM_005228.5(EGFR):c.2308_2310delinsTGGG (p.Asp770fs) rs727503019
NM_005228.5(EGFR):c.2308_2322dup (p.Asp770_Val774dup) rs1554350367
NM_005228.5(EGFR):c.2310C>T (p.Asp770=) rs397517110
NM_005228.5(EGFR):c.2310_2311insGGGTTG (p.Asp770_Asn771insGlyLeu) rs397517111
NM_005228.5(EGFR):c.2311A>G (p.Asn771Asp) rs727503020
NM_005228.5(EGFR):c.2311_2312insCAC (p.Asn771delinsThrHis) rs1554350351
NM_005228.5(EGFR):c.2311_2312insGTT (p.Asn771delinsSerTyr) rs1554350351
NM_005228.5(EGFR):c.2311_2319dup (p.Asn771_His773dup) rs397517115
NM_005228.5(EGFR):c.2312_2313insTGT (p.Asn771_Pro772insVal) rs727503021
NM_005228.5(EGFR):c.2312_2314dup (p.Asn771_Pro772insHis) rs397517112
NM_005228.5(EGFR):c.2313_2321dup (p.Pro772_Val774dup) rs397517113
NM_005228.5(EGFR):c.2315_2320dup (p.His773_Val774insAlaHis) rs397517114
NM_005228.5(EGFR):c.2317_2318insCGAACCCCC (p.Pro772_His773insProAsnPro) rs727503013
NM_005228.5(EGFR):c.2317_2319dup (p.His773dup) rs1554350381
NM_005228.5(EGFR):c.2317_2322dup (p.His773_Val774dup) rs397517116
NM_005228.5(EGFR):c.2320_2321insGCCACG (p.His773_Val774insGlyHis) rs1554350366
NM_005228.5(EGFR):c.2334G>T (p.Leu778=) rs397517118
NM_005228.5(EGFR):c.2335G>T (p.Gly779Cys) rs397517119
NM_005228.5(EGFR):c.2336G>T (p.Gly779Val) rs397517120
NM_005228.5(EGFR):c.2340C>T (p.Ile780=) rs397517121
NM_005228.5(EGFR):c.2349C>T (p.Thr783=) rs397517122
NM_005228.5(EGFR):c.2409G>A (p.Arg803=) rs397517123
NM_005228.5(EGFR):c.2439C>T (p.Tyr813=) rs397517124
NM_005228.5(EGFR):c.2497T>G (p.Leu833Val) rs397517126
NM_005228.5(EGFR):c.2500G>C (p.Val834Leu) rs397517127
NM_005228.5(EGFR):c.2500G>T (p.Val834Leu) rs397517127
NM_005228.5(EGFR):c.2504A>T (p.His835Leu) rs397517128
NM_005228.5(EGFR):c.2504_2591del (p.His835fs) rs1554353237
NM_005228.5(EGFR):c.2508C>T (p.Arg836=) rs2229066
NM_005228.5(EGFR):c.2572C>A (p.Leu858Met) rs121913443
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2574G>T (p.Leu858=) rs397517129
NM_005228.5(EGFR):c.2580A>T (p.Lys860Asn) rs397517130
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) rs121913444
NM_005228.5(EGFR):c.2597A>T (p.Glu866Val) rs397517132
NM_005228.5(EGFR):c.2598G>A (p.Glu866=) rs397517133
NM_005228.5(EGFR):c.2612C>G (p.Ala871Gly) rs397517134
NM_005228.5(EGFR):c.2625+6G>T rs397517135
NM_005228.5(EGFR):c.2642T>C (p.Met881Thr) rs397517136
NM_005228.5(EGFR):c.2654C>T (p.Ser885Leu) rs397517137
NM_005228.5(EGFR):c.2775C>T (p.Ser925=) rs727504306
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[20] rs35896485
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) rs727504747
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) rs104894227
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) rs727503094
NM_005343.4(HRAS):c.36C>A (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) rs397517141
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) rs144001095
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) rs1554884750
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1448-3T>A rs1555687536
NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly) rs151187460
NM_005379.4(MYO1A):c.221A>C (p.Lys74Thr) rs727503323
NM_005379.4(MYO1A):c.2238C>G (p.Ser746=) rs140932379
NM_005379.4(MYO1A):c.2238C>T (p.Ser746=) rs140932379
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys) rs370708976
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg) rs370617353
NM_005379.4(MYO1A):c.829G>A (p.Val277Met) rs141826192
NM_005411.5(SFTPA1):c.135C>G (p.Asp45Glu) rs200941736
NM_005411.5(SFTPA1):c.626C>A (p.Thr209Asn) rs1554854656
NM_005411.5(SFTPA1):c.646C>G (p.Pro216Ala) rs876657998
NM_005411.5(SFTPA1):c.677A>G (p.Glu226Gly) rs876657999
NM_005422.4(TECTA):c.187C>T (p.Arg63Cys) rs876658015
NM_005422.4(TECTA):c.1917_1937dup (p.Ser640_Pro646dup) rs1555123919
NM_005422.4(TECTA):c.1966G>A (p.Gly656Ser) rs1555123944
NM_005422.4(TECTA):c.2032G>A (p.Glu678Lys) rs727504744
NM_005422.4(TECTA):c.2134G>C (p.Val712Leu) rs876657587
NM_005422.4(TECTA):c.2139C>A (p.Cys713Ter) rs768295360
NM_005422.4(TECTA):c.2199C>G (p.Ser733=) rs397517145
NM_005422.4(TECTA):c.2271G>A (p.Lys757=) rs369114054
NM_005422.4(TECTA):c.2308C>A (p.Arg770=) rs727503458
NM_005422.4(TECTA):c.2378A>G (p.Gln793Arg) rs727503459
NM_005422.4(TECTA):c.2740A>G (p.Ile914Val) rs1303790601
NM_005422.4(TECTA):c.2995A>G (p.Thr999Ala) rs1408773314
NM_005422.4(TECTA):c.3375C>T (p.Ile1125=) rs1946747020
NM_005422.4(TECTA):c.3898C>T (p.Leu1300=) rs527881617
NM_005422.4(TECTA):c.3925G>A (p.Ala1309Thr) rs727504621
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.4(TECTA):c.4163G>T (p.Arg1388Leu) rs150016625
NM_005422.4(TECTA):c.4263G>A (p.Leu1421=) rs563775304
NM_005422.4(TECTA):c.4510C>T (p.Arg1504Cys) rs727505218
NM_005422.4(TECTA):c.4527C>G (p.Cys1509Trp) rs727503464
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_005422.4(TECTA):c.4651G>A (p.Glu1551Lys) rs1452561308
NM_005422.4(TECTA):c.4690-15T>C rs727505055
NM_005422.4(TECTA):c.5030G>T (p.Cys1677Phe) rs759579205
NM_005422.4(TECTA):c.5074C>A (p.Leu1692Met) rs1591461270
NM_005422.4(TECTA):c.5086G>A (p.Asp1696Asn) rs1017300729
NM_005422.4(TECTA):c.5235del (p.Ile1746fs) rs1229070290
NM_005422.4(TECTA):c.5549T>G (p.Ile1850Ser) rs1591463453
NM_005422.4(TECTA):c.5662A>G (p.Arg1888Gly) rs1591464171
NM_005422.4(TECTA):c.5692T>C (p.Cys1898Arg) rs1591464207
NM_005422.4(TECTA):c.5717_5718inv (p.Ile1906Arg)
NM_005422.4(TECTA):c.5743A>G (p.Met1915Val) rs749089815
NM_005422.4(TECTA):c.5754_5755del (p.Val1918_Ile1919insTer) rs1555129231
NM_005422.4(TECTA):c.5955C>A (p.Thr1985=) rs727503466
NM_005422.4(TECTA):c.5999G>A (p.Gly2000Glu) rs1591464681
NM_005422.4(TECTA):c.601G>T (p.Gly201Cys) rs727503456
NM_005422.4(TECTA):c.6134G>T (p.Cys2045Phe) rs1555132232
NM_005422.4(TECTA):c.6233G>T (p.Gly2078Val) rs1555132399
NM_005422.4(TECTA):c.6236C>A (p.Pro2079His) rs1555132402
NM_005422.4(TECTA):c.6346G>C (p.Glu2116Gln) rs372023989
NM_005422.4(TECTA):c.721G>A (p.Val241Ile) rs773034636
NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) rs1176214445
NM_005422.4(TECTA):c.888G>A (p.Glu296=) rs876657588
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721
NM_005428.4(VAV1):c.54G>C (p.Pro18=) rs45448796
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs) rs774674047
NM_005535.3(IL12RB1):c.684C>T (p.Pro228=) rs17852635
NM_005548.3(KARS1):c.159T>A (p.Ala53=) rs1555513622
NM_005548.3(KARS1):c.170A>T (p.Asn57Ile) rs117041419
NM_005548.3(KARS1):c.1732AAG[1] (p.Lys579del) rs753346124
NM_005548.3(KARS1):c.898C>T (p.Pro300Ser) rs1555513082
NM_005559.4(LAMA1):c.8062_8068dup (p.Leu2690fs) rs1555643185
NM_005564.5(LCN2):c.356-15C>G rs11794980
NM_005577.4(LPA):c.4289+1G>A rs41272114
NM_005619.5(RTN2):c.560-1G>T rs876657982
NM_005633.3(SOS1):c.2511-9dup rs727503436
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.4(SOS1):c.1412G>A (p.Cys471Tyr) rs397517151
NM_005633.4(SOS1):c.1429C>A (p.Gln477Lys) rs397517152
NM_005633.4(SOS1):c.1433C>T (p.Pro478Leu) rs1553356111
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.4(SOS1):c.2051C>T (p.Pro684Leu) rs397517155
NM_005633.4(SOS1):c.2061G>A (p.Leu687=) rs727504752
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.21C>T (p.Pro7=) rs727504845
NM_005633.4(SOS1):c.2200A>C (p.Thr734Pro) rs727503437
NM_005633.4(SOS1):c.2489A>T (p.Asn830Ile) rs397517158
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.2762C>G (p.Ser921Cys) rs1553353332
NM_005633.4(SOS1):c.2775A>T (p.Pro925=) rs397517160
NM_005633.4(SOS1):c.2918A>T (p.Gln973Leu) rs727505016
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.4(SOS1):c.3369A>G (p.Gln1123=) rs727503435
NM_005633.4(SOS1):c.3568A>G (p.Lys1190Glu) rs1553349579
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu) rs141594736
NM_005633.4(SOS1):c.3600C>T (p.Asp1200=) rs141594736
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_005633.4(SOS1):c.373C>A (p.Gln125Lys) rs397517170
NM_005633.4(SOS1):c.3952T>A (p.Ser1318Thr) rs397517171
NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg) rs727503434
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.511-12_511-11del rs397517173
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.4(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005633.4(SOS1):c.588A>T (p.Ser196=) rs727504826
NM_005633.4(SOS1):c.597A>G (p.Gln199=) rs397517175
NM_005633.4(SOS1):c.668T>C (p.Ile223Thr) rs397517176
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005744.5(ARIH1):c.237CGG[8] (p.Gly90dup) rs375614248
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005902.4(SMAD3):c.206+1G>C rs770098673
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005912.3(MC4R):c.585C>G (p.Ile195Met) rs1915346892
NM_005932.4(MIPEP):c.1727A>C (p.Gln576Pro) rs1953152428
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter) rs866158774
NM_005961.3(MUC6):c.4631_4633del (p.Thr1544del) rs111749447
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) rs104894478
NM_005982.4(SIX1):c.487C>G (p.Leu163Val) rs876658002
NM_005982.4(SIX1):c.746C>A (p.Pro249Gln) rs368974927
NM_006005.3(WFS1):c.1020C>G (p.Phe340Leu) rs876658117
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del) rs876657735
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1185C>G (p.Val395=) rs1801206
NM_006005.3(WFS1):c.1194C>A (p.Gly398=) rs143633587
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) rs756869880
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1261A>G (p.Ile421Val) rs727503749
NM_006005.3(WFS1):c.128C>T (p.Ala43Val) rs727503746
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1294C>T (p.Leu432=) rs35031397
NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile) rs71530925
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) rs727503745
NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala) rs1553878548
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter) rs1038816435
NM_006005.3(WFS1):c.1645C>G (p.Leu549Val) rs1801211
NM_006005.3(WFS1):c.1674C>G (p.Arg558=) rs61735402
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) rs372783392
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1740G>A (p.Val580=) rs749882923
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) rs376626985
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) rs150465110
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs) rs1730930342
NM_006005.3(WFS1):c.2032T>G (p.Trp678Gly) rs1578611784
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) rs142668478
NM_006005.3(WFS1):c.2080G>C (p.Glu694Gln) rs727503751
NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr) rs397517196
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2278C>A (p.Leu760Met) rs1553878931
NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg) rs727503752
NM_006005.3(WFS1):c.2323T>G (p.Phe775Val) rs727503753
NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp) rs369107336
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu) rs369107336
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) rs373310972
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) rs201102144
NM_006005.3(WFS1):c.2430C>G (p.Phe810Leu) rs1553879021
NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) rs876657675
NM_006005.3(WFS1):c.2516T>C (p.Val839Ala) rs761114952
NM_006005.3(WFS1):c.2575C>A (p.Arg859=) rs372298367
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2632G>A (p.Ala878Thr) rs570527044
NM_006005.3(WFS1):c.2638G>C (p.Asp880His) rs776324301
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006005.3(WFS1):c.436C>T (p.Arg146Cys) rs1553876694
NM_006005.3(WFS1):c.510C>G (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.61C>G (p.Pro21Ala) rs757447631
NM_006005.3(WFS1):c.630C>T (p.His210=) rs144851092
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.754A>G (p.Lys252Glu) rs1553877330
NM_006005.3(WFS1):c.831G>A (p.Lys277=) rs532368033
NM_006005.3(WFS1):c.881A>T (p.His294Leu) rs727503748
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254
NM_006005.3(WFS1):c.996C>T (p.Ile332=) rs138674328
NM_006005.3(WFS1):c.997G>T (p.Val333Phe) rs1801212
NM_006012.4(CLPP):c.-7_-6insCC rs545353866
NM_006012.4(CLPP):c.684C>T (p.Arg228=) rs876657442
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) rs746174328
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) rs1555993038
NM_006063.3(KLHL41):c.1167T>A (p.Cys389Ter) rs757358433
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) rs2873479
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479
NM_006073.4(TRDN):c.1369+3dup rs537388823
NM_006073.4(TRDN):c.1511-14T>C rs1252673540
NM_006073.4(TRDN):c.155T>A (p.Leu52Gln) rs1554258798
NM_006073.4(TRDN):c.1597+10G>A rs150165710
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_006073.4(TRDN):c.2126C>A (p.Ala709Glu) rs876658032
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1]) rs148596612
NM_006073.4(TRDN):c.604_610+47del rs1554251571
NM_006073.4(TRDN):c.931+18del rs201431159
NM_006121.4(KRT1):c.1510+1G>T rs1429588463
NM_006151.3(LPO):c.164+10AC[22] rs67390833
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1359_1373del (p.Glu453_Pro458delinsAsp) rs397517200
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006231.4(POLE):c.1066C>T (p.Pro356Ser) rs1555229220
NM_006231.4(POLE):c.1085A>G (p.Tyr362Cys) rs1368897791
NM_006231.4(POLE):c.167C>T (p.Pro56Leu) rs1555230404
NM_006231.4(POLE):c.1800TGA[3] (p.Asp601dup) rs1593793500
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser) rs979085449
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2908G>A (p.Gly970Ser) rs1480250083
NM_006231.4(POLE):c.3331C>T (p.Arg1111Trp) rs774028311
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3863C>T (p.Ala1288Val) rs1467975024
NM_006231.4(POLE):c.4892G>T (p.Arg1631Leu) rs775590365
NM_006231.4(POLE):c.5552+1G>A rs1555221894
NM_006231.4(POLE):c.6016G>T (p.Ala2006Ser) rs1328375671
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006284.4(TAF10):c.*1756C>T rs876657478
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006383.4(CIB2):c.557G>A (p.Arg186Gln) rs1281648597
NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys) rs876657925
NM_006393.3(NEBL):c.1269A>G (p.Lys423=) rs138932199
NM_006393.3(NEBL):c.1496T>G (p.Met499Arg) rs727504620
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.1963-3C>T rs727504683
NM_006393.3(NEBL):c.2055+7C>A rs368793318
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr) rs397517205
NM_006393.3(NEBL):c.2475C>T (p.His825=) rs727503334
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser) rs727505285
NM_006393.3(NEBL):c.255T>C (p.Ser85=) rs727504471
NM_006393.3(NEBL):c.2748G>T (p.Pro916=) rs778128527
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.480+10C>A rs377230358
NM_006393.3(NEBL):c.625G>T (p.Ala209Ser) rs142138590
NM_006580.4(CLDN16):c.-45del rs368234054
NM_006644.4(HSPH1):c.1030G>T (p.Ala344Ser) rs774955562
NM_006644.4(HSPH1):c.1138-4del rs35594388
NM_006735.4(HOXA2):c.50C>A (p.Ser17Ter) rs2128035269
NM_006755.2(TALDO1):c.516dup (p.Ala173fs) rs797045110
NM_006767.4(LZTR1):c.689A>C (p.Asn230Thr) rs752439876
NM_006772.3(SYNGAP1):c.3557C>T (p.Ser1186Leu) rs1554122485
NM_006783.4(GJB6):c.(?_-885)_(-16_?)+61dup
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.604A>T (p.Ser202Cys) rs876657981
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006941.3(SOX10):c.(?_698)_(1401_?)del
NM_006941.4(SOX10):c.191A>T (p.Asp64Val) rs372400283
NM_006941.4(SOX10):c.313A>C (p.Lys105Gln) rs876658005
NM_006941.4(SOX10):c.401T>C (p.Leu134Pro) rs876657660
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_006941.4(SOX10):c.426G>A (p.Trp142Ter) rs1555939403
NM_007078.3(LDB3):c.*13G>T rs397517207
NM_007078.3(LDB3):c.1041C>A (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1041C>T (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.10A>C (p.Ser4Arg) rs727505295
NM_007078.3(LDB3):c.1167C>T (p.Ala389=) rs768844187
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1]) rs397517209
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3]) rs397517209
NM_007078.3(LDB3):c.1317C>T (p.Pro439=) rs397517208
NM_007078.3(LDB3):c.144C>T (p.Leu48=) rs397517213
NM_007078.3(LDB3):c.1471G>T (p.Val491Leu) rs397517215
NM_007078.3(LDB3):c.1475C>T (p.Thr492Ile) rs397517216
NM_007078.3(LDB3):c.1586C>G (p.Pro529Arg) rs397517217
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala) rs727503128
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.1907G>A (p.Cys636Tyr) rs397517218
NM_007078.3(LDB3):c.200A>G (p.Asn67Ser) rs727504500
NM_007078.3(LDB3):c.2078C>A (p.Thr693Asn) rs397517219
NM_007078.3(LDB3):c.2155A>G (p.Lys719Glu) rs397517220
NM_007078.3(LDB3):c.236C>G (p.Thr79Ser) rs397517221
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.529dup (p.Ala177fs) rs730880345
NM_007078.3(LDB3):c.530C>A (p.Ala177Asp) rs397517224
NM_007078.3(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.576G>T (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.600C>T (p.Gly200=) rs397517225
NM_007078.3(LDB3):c.690-4842G>T rs113445294
NM_007078.3(LDB3):c.789G>A (p.Trp263Ter) rs876657847
NM_007078.3(LDB3):c.859+3G>A rs376313045
NM_007078.3(LDB3):c.860-15C>T rs727503126
NM_007078.3(LDB3):c.860-22_860-12del rs727504602
NM_007078.3(LDB3):c.896+6669TC[11] rs71019410
NM_007078.3(LDB3):c.896+6669TC[12] rs71019410
NM_007078.3(LDB3):c.896+6669TC[13] rs71019410
NM_007078.3(LDB3):c.896+6669TC[15] rs71019410
NM_007078.3(LDB3):c.896+6669TC[16] rs71019410
NM_007078.3(LDB3):c.899C>A (p.Thr300Asn) rs397517228
NM_007078.3(LDB3):c.93+1G>T rs727505066
NM_007078.3(LDB3):c.93+7G>T rs397517229
NM_007098.4(CLTCL1):c.3601-1dup rs11386977
NM_007118.4(TRIO):c.3562A>G (p.Thr1188Ala) rs1746074176
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_007166.4(PICALM):c.1770T>G (p.Ala590=) rs694353
NM_007166.4(PICALM):c.766-15A>G rs10792821
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007294.4(BRCA1):c.143del (p.Met48fs) rs80357637
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.4(BRCA1):c.1812del (p.Ala605fs) rs80357927
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.2090del (p.Phe697fs) rs886039996
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2443del (p.Ile815fs) rs80357598
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2706del (p.Glu902fs) rs1597868211
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2823del (p.Asn941fs) rs886040075
NM_007294.4(BRCA1):c.2882del (p.Asn961fs) rs886040082
NM_007294.4(BRCA1):c.301+1G>A rs587782173
NM_007294.4(BRCA1):c.3331C>T (p.Gln1111Ter) rs80357089
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter) rs80357018
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3767_3768del (p.Thr1256fs) rs730881440
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4485-1G>T rs80358189
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs) rs80357837
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs) rs80357623
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter) rs80357219
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.594-1G>T rs757781708
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007348.3(ATF6):c.160dup (p.Glu54Glyfs) rs1553227755
NM_007348.4(ATF6):c.484+1G>T rs764142241
NM_007373.4(SHOC2):c.-66A>G rs397517230
NM_012092.4(ICOS):c.189C>A (p.Cys63Ter) rs537195517
NM_012092.4(ICOS):c.501+6C>T rs4264550
NM_012144.4(DNAI1):c.1611C>T (p.Asp537=) rs199502666
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu) rs727502978
NM_012144.4(DNAI1):c.2002-5C>T rs1587096958
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_012144.4(DNAI1):c.336del (p.Asp114fs) rs876657683
NM_012144.4(DNAI1):c.645_647delinsCCT (p.Pro216Leu) rs876657783
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012208.4(HARS2):c.-2C>T rs574815775
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu) rs200089613
NM_012208.4(HARS2):c.165TAT[1] (p.Ile57del) rs876657829
NM_012208.4(HARS2):c.732+8_732+11del rs766254601
NM_012208.4(HARS2):c.838C>G (p.Leu280Val) rs1439213535
NM_012208.4(HARS2):c.975G>C (p.Leu325=) rs756782773
NM_012233.3(RAB3GAP1):c.2773C>T (p.Gln925Ter) rs1573622710
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012330.4(KAT6B):c.5279C>A (p.Pro1760Gln) rs1385883942
NM_012330.4(KAT6B):c.5962A>G (p.Thr1988Ala) rs1846260900
NM_012425.4(RSU1):c.599-11_599-10insT rs372430392
NM_013254.4(TBK1):c.229-4dup rs57810028
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013296.5(GPSM2):c.1063-4G>C rs1570914167
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_013296.5(GPSM2):c.1473del (p.Phe492fs) rs772372530
NM_013296.5(GPSM2):c.1560AAC[2] (p.Thr523del) rs199964596
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887
NM_013296.5(GPSM2):c.459_460del (p.Ala154fs) rs727505300
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del) rs145997327
NM_013296.5(GPSM2):c.624T>C (p.Leu208=) rs1553211657
NM_013296.5(GPSM2):c.732A>G (p.Ala244=) rs1553211713
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013296.5(GPSM2):c.831C>G (p.Asp277Glu) rs876657828
NM_013314.4(BLNK):c.171T>C (p.Pro57=) rs727852
NM_013328.4(PYCR2):c.402_403del (p.Tyr135fs) rs1671854739
NM_013390.3(CEMIP2):c.3956-20dup rs36080695
NM_013427.3(ARHGAP6):c.589-12_589-10del rs751080433
NM_013995.2(LAMP2):c.217dup (p.Thr73fs) rs397516739
NM_014000.3(VCL):c.1017T>C (p.Arg339=) rs876657632
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.3(VCL):c.1198G>T (p.Gly400Cys) rs201361282
NM_014000.3(VCL):c.120C>T (p.Leu40=) rs144080529
NM_014000.3(VCL):c.1275T>C (p.Pro425=) rs397517233
NM_014000.3(VCL):c.1337C>G (p.Ala446Gly) rs727504675
NM_014000.3(VCL):c.1390A>C (p.Lys464Gln) rs200710859
NM_014000.3(VCL):c.1544-2A>G rs727503738
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp) rs548487697
NM_014000.3(VCL):c.1639C>T (p.Arg547Ter) rs397517234
NM_014000.3(VCL):c.168+9G>T rs997516030
NM_014000.3(VCL):c.1762C>T (p.Gln588Ter) rs727504381
NM_014000.3(VCL):c.1792G>A (p.Val598Ile) rs397517235
NM_014000.3(VCL):c.1888G>A (p.Ala630Thr) rs727503739
NM_014000.3(VCL):c.1973T>C (p.Val658Ala) rs372691803
NM_014000.3(VCL):c.2672G>C (p.Gly891Ala) rs727503740
NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del) rs757018106
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014000.3(VCL):c.2949+1del rs2131937426
NM_014000.3(VCL):c.3115C>T (p.Gln1039Ter) rs727503741
NM_014000.3(VCL):c.3163C>T (p.Arg1055Ter) rs727505159
NM_014000.3(VCL):c.31A>G (p.Ser11Gly) rs397517240
NM_014000.3(VCL):c.3236T>C (p.Ile1079Thr) rs727503742
NM_014000.3(VCL):c.500-5C>G rs397517243
NM_014000.3(VCL):c.565G>C (p.Val189Leu) rs151045204
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014000.3(VCL):c.649A>G (p.Asn217Asp) rs727505216
NM_014000.3(VCL):c.874+9C>G rs756064535
NM_014210.4(EVI2A):c.-1C>T rs1129506
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter) rs1571946866
NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs) rs730882149
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014270.5(SLC7A9):c.1399+4_1399+7del rs747593886
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014363.6(SACS):c.11100dup (p.Trp3701fs) rs1883571351
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) rs876657720
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014391.3(ANKRD1):c.140C>T (p.Thr47Ile) rs727502891
NM_014391.3(ANKRD1):c.145C>T (p.Leu49=) rs1554827991
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser) rs397517248
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) rs397517249
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs) rs776659587
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-18_346-9del rs727502890
NM_014391.3(ANKRD1):c.346-19_346-14del rs58762441
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014425.5(INVS):c.615+1G>A rs955421639
NM_014432.4(IL20RA):c.725-5del rs5880323
NM_014432.4(IL20RA):c.725-6_725-5del rs5880323
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter) rs1580193741
NM_014739.3(BCLAF1):c.2272C>A (p.Pro758Thr) rs77081633
NM_014739.3(BCLAF1):c.2397+1G>C rs879165205
NM_014739.3(BCLAF1):c.2663C>A (p.Thr888Asn) rs62431284
NM_014739.3(BCLAF1):c.2743C>T (p.Arg915Cys) rs62431283
NM_014908.4(DOLK):c.1035A>G (p.Val345=) rs876657455
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter) rs876657785
NM_014908.4(DOLK):c.294G>A (p.Arg98=) rs876657456
NM_015001.3(SPEN):c.9730A>C (p.Thr3244Pro) rs776474446
NM_015001.3(SPEN):c.9736A>C (p.Thr3246Pro) rs769360962
NM_015030.2(FRYL):c.2557_2558insAA (p.Thr853fs) rs1578191374
NM_015077.4(SARM1):c.*4420= rs1555522165
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs) rs1647148516
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015132.5(SNX13):c.1954-22_1954-21dup rs34649849
NM_015141.4(GPD1L):c.352_353insC (p.Ile118fs) rs1060499860
NM_015141.4(GPD1L):c.354_355insGAGTT (p.Thr119fs) rs1060499861
NM_015141.4(GPD1L):c.745G>A (p.Val249Met) rs148464224
NM_015158.5(KANK1):c.1038C>G (p.Tyr346Ter) rs1060499870
NM_015238.3(WWC1):c.2280+14CTGG[10] rs11279828
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter) rs2123267182
NM_015340.3(LARS2):c.(?_2533)-70_*(70_?)del
NM_015340.4(LARS2):c.1530G>A (p.Lys510=) rs752585512
NM_015340.4(LARS2):c.1753A>G (p.Lys585Glu) rs1181180156
NM_015340.4(LARS2):c.1938C>T (p.Asn646=) rs138012553
NM_015340.4(LARS2):c.2112G>A (p.Glu704=) rs876657486
NM_015340.4(LARS2):c.2292+8G>T rs876657488
NM_015340.4(LARS2):c.416C>T (p.Ala139Val) rs1553628118
NM_015340.4(LARS2):c.879C>T (p.Gly293=) rs368510008
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580
NM_015340.4(LARS2):c.945G>C (p.Ser315=) rs145135580
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser) rs545251395
NM_015404.4(WHRN):c.1158C>G (p.Asn386Lys) rs397517253
NM_015404.4(WHRN):c.1251C>T (p.Ser417=) rs1554719002
NM_015404.4(WHRN):c.1267C>T (p.Arg423Ter) rs397517255
NM_015404.4(WHRN):c.14T>C (p.Leu5Pro) rs1554747807
NM_015404.4(WHRN):c.1542G>A (p.Gly514=) rs397517257
NM_015404.4(WHRN):c.1626+9C>A rs727504908
NM_015404.4(WHRN):c.1824G>A (p.Gln608=) rs755074681
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln) rs727505188
NM_015404.4(WHRN):c.2364G>T (p.Arg788Ser) rs1441372523
NM_015404.4(WHRN):c.2418+3G>A rs876657772
NM_015404.4(WHRN):c.2455G>A (p.Val819Met) rs1589057203
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015404.4(WHRN):c.2621G>C (p.Gly874Ala) rs756466784
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln) rs727505255
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.427T>C (p.Leu143=) rs727502956
NM_015404.4(WHRN):c.640C>G (p.Leu214Val) rs1554735418
NM_015404.4(WHRN):c.643del (p.Val215fs) rs397517258
NM_015404.4(WHRN):c.676G>C (p.Gly226Arg) rs727502955
NM_015404.4(WHRN):c.744G>A (p.Ser248=) rs397517259
NM_015404.4(WHRN):c.75CGG[2] (p.Gly29del) rs757435431
NM_015404.4(WHRN):c.914A>G (p.Tyr305Cys) rs1589199689
NM_015404.4(WHRN):c.943G>C (p.Ala315Pro) rs876657774
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834
NM_015488.5(PNKD):c.43dup (p.Ala15fs) rs777779692
NM_015512.5(DNAH1):c.11495= (p.Arg3832=) rs1704644099
NM_015512.5(DNAH1):c.2951del (p.Lys984fs) rs753307279
NM_015512.5(DNAH1):c.4085G>T (p.Arg1362Leu) rs201355893
NM_015512.5(DNAH1):c.5611-9G>C rs3752819
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter) rs1668654133
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015717.4(CD207):c.73dup (p.Glu25Glyfs) rs11450450
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015956.3(MRPL4):c.740-8G>C rs375741179
NM_016004.5(IFT52):c.1120+26del rs754046046
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016111.4(TELO2):c.2291+1G>A rs76038845
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile) rs727504707
NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr) rs727504392
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) rs121908988
NM_016203.4(PRKAG2):c.1152A>T (p.Arg384Ser) rs397517262
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) rs28938173
NM_016203.4(PRKAG2):c.1212C>G (p.Ile404Met) rs876657962
NM_016203.4(PRKAG2):c.1449T>C (p.Ala483=) rs148632949
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) rs267606978
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_016203.4(PRKAG2):c.467-10T>G rs727503378
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) rs397517273
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs) rs397517275
NM_016203.4(PRKAG2):c.618G>T (p.Pro206=) rs145827515
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.685-8C>T rs397517279
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=) rs752351250
NM_016203.4(PRKAG2):c.722G>A (p.Gly241Asp) rs397517280
NM_016203.4(PRKAG2):c.807G>A (p.Lys269=) rs727504618
NM_016203.4(PRKAG2):c.826A>G (p.Thr276Ala) rs727505340
NM_016203.4(PRKAG2):c.837G>A (p.Lys279=) rs876657566
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) rs397517282
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.946+13G>C rs727505059
NM_016203.4(PRKAG2):c.967T>A (p.Phe323Ile) rs397517283
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=) rs397517284
NM_016239.4(MYO15A):c.10136C>A (p.Ser3379Ter) rs546575046
NM_016239.4(MYO15A):c.10217-3C>T rs727503321
NM_016239.4(MYO15A):c.10228G>C (p.Ala3410Pro) rs755643067
NM_016239.4(MYO15A):c.1103_1105del (p.Tyr368del) rs876657896
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1149C>T (p.Gly383=) rs746937331
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.1444C>G (p.Arg482Gly) rs867369805
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs) rs1162296750
NM_016239.4(MYO15A):c.3026del (p.Pro1009fs) rs1555539827
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His) rs200587502
NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup) rs377177611
NM_016239.4(MYO15A):c.3217G>A (p.Ala1073Thr) rs1597758153
NM_016239.4(MYO15A):c.3295C>T (p.Pro1099Ser) rs765396397
NM_016239.4(MYO15A):c.3299T>A (p.Leu1100Gln) rs1555540034
NM_016239.4(MYO15A):c.3386G>A (p.Arg1129Gln) rs1463824476
NM_016239.4(MYO15A):c.3498C>T (p.Pro1166=) rs747533694
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del) rs876657898
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg) rs146754758
NM_016239.4(MYO15A):c.3658G>C (p.Gly1220Arg) rs146754758
NM_016239.4(MYO15A):c.3795C>A (p.Tyr1265Ter) rs1597768378
NM_016239.4(MYO15A):c.3842G>C (p.Gly1281Ala) rs1555541136
NM_016239.4(MYO15A):c.3866+12G>T rs533500962
NM_016239.4(MYO15A):c.4038+7_4038+8del rs1555542172
NM_016239.4(MYO15A):c.4039-15C>T rs727503308
NM_016239.4(MYO15A):c.4091_4099del (p.Arg1364_Asp1366del) rs1597777612
NM_016239.4(MYO15A):c.4109G>A (p.Arg1370His) rs771676248
NM_016239.4(MYO15A):c.420G>T (p.Lys140Asn) rs1555537961
NM_016239.4(MYO15A):c.4607G>T (p.Arg1536Leu) rs201423655
NM_016239.4(MYO15A):c.4656-11del rs767773802
NM_016239.4(MYO15A):c.4945C>T (p.Leu1649Phe) rs1257912388
NM_016239.4(MYO15A):c.5007+15C>G rs891826719
NM_016239.4(MYO15A):c.5217G>A (p.Val1739=) rs2046358921
NM_016239.4(MYO15A):c.5531+1G>A rs727503309
NM_016239.4(MYO15A):c.5804G>T (p.Arg1935Leu) rs876657900
NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) rs727504995
NM_016239.4(MYO15A):c.5925G>T (p.Trp1975Cys) rs375290498
NM_016239.4(MYO15A):c.5958G>A (p.Glu1986=) rs727504916
NM_016239.4(MYO15A):c.6273+5G>T rs1597797058
NM_016239.4(MYO15A):c.6378G>C (p.Glu2126Asp) rs1597798474
NM_016239.4(MYO15A):c.6490T>G (p.Phe2164Val) rs727505225
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) rs876657903
NM_016239.4(MYO15A):c.6788G>A (p.Gly2263Asp) rs397517285
NM_016239.4(MYO15A):c.6932C>A (p.Ala2311Glu) rs727503314
NM_016239.4(MYO15A):c.6969C>G (p.Asn2323Lys) rs1555545724
NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs) rs397517286
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer) rs1415858976
NM_016239.4(MYO15A):c.7226del (p.Pro2409fs) rs727503315
NM_016239.4(MYO15A):c.7254G>A (p.Gly2418=) rs1265909514
NM_016239.4(MYO15A):c.7431G>A (p.Gln2477=) rs876657527
NM_016239.4(MYO15A):c.7533_7553dup (p.Val2512_Pro2518dup) rs1555546066
NM_016239.4(MYO15A):c.7833G>A (p.Glu2611=) rs727504816
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser) rs200355614
NM_016239.4(MYO15A):c.8051A>G (p.Tyr2684Cys) rs1181143893
NM_016239.4(MYO15A):c.8088+5C>G rs9916193
NM_016239.4(MYO15A):c.8100del (p.Lys2701fs) rs397517287
NM_016239.4(MYO15A):c.8215G>C (p.Ala2739Pro) rs748969088
NM_016239.4(MYO15A):c.8329T>C (p.Phe2777Leu) rs876657905
NM_016239.4(MYO15A):c.8602-8_8602-5del rs876657907
NM_016239.4(MYO15A):c.8907C>T (p.Ala2969=) rs727504611
NM_016239.4(MYO15A):c.9123C>G (p.Ser3041=) rs876657528
NM_016239.4(MYO15A):c.9161C>T (p.Pro3054Leu) rs1431217758
NM_016239.4(MYO15A):c.9303+1G>T rs876657708
NM_016239.4(MYO15A):c.9517+3G>T rs727503319
NM_016239.4(MYO15A):c.9612+9_10082del
NM_016239.4(MYO15A):c.9619C>T (p.Arg3207Cys) rs1387363252
NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr) rs780798446
NM_016239.4(MYO15A):c.9741C>A (p.Arg3247=) rs752368160
NM_016239.4(MYO15A):c.9948+11G>A rs200712715
NM_016239.4(MYO15A):c.9997C>G (p.Arg3333Gly) rs765670344
NM_016284.5(CNOT1):c.4434+195del rs5817153
NM_016366.3(CABP2):c.60C>G (p.Leu20=) rs950724245
NM_016599.4(MYOZ2):c.(?_1)_(76_?)dup (p.(?))
NM_016599.5(MYOZ2):c.-3A>G rs372377840
NM_016599.5(MYOZ2):c.-3dup rs397517288
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser) rs397517289
NM_016599.5(MYOZ2):c.191G>A (p.Arg64Lys) rs1553958177
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg) rs76757102
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His) rs200077093
NM_016599.5(MYOZ2):c.561-13dup rs112369914
NM_016599.5(MYOZ2):c.561-14_561-13dup rs112369914
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp) rs372215131
NM_016599.5(MYOZ2):c.77-14A>G rs397517291
NM_016599.5(MYOZ2):c.84T>C (p.Asp28=) rs397517292
NM_016616.5(NME8):c.1007G>A (p.Arg336His) rs62001869
NM_016929.5(CLIC5):c.589-9_589-8del rs3831297
NM_017433.5(MYO3A):c.1029A>G (p.Leu343=) rs544012938
NM_017433.5(MYO3A):c.1038A>G (p.Leu346=) rs727505229
NM_017433.5(MYO3A):c.1053+11_1053+12inv
NM_017433.5(MYO3A):c.1080G>A (p.Lys360=) rs397517293
NM_017433.5(MYO3A):c.1359+1G>T rs756836048
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.1643C>T (p.Pro548Leu) rs143918373
NM_017433.5(MYO3A):c.168+3_168+4del rs2130551945
NM_017433.5(MYO3A):c.2039A>C (p.Lys680Thr) rs1589000062
NM_017433.5(MYO3A):c.2263-2A>C rs1554833178
NM_017433.5(MYO3A):c.2405A>G (p.Gln802Arg) rs727503324
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=) rs371741845
NM_017433.5(MYO3A):c.2890G>A (p.Asp964Asn) rs1554836048
NM_017433.5(MYO3A):c.3040A>G (p.Met1014Val) rs1324018685
NM_017433.5(MYO3A):c.3253A>G (p.Ser1085Gly) rs1191332923
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017433.5(MYO3A):c.3842T>G (p.Phe1281Cys) rs876657529
NM_017433.5(MYO3A):c.4088G>A (p.Arg1363Lys) rs876657530
NM_017433.5(MYO3A):c.409-21TA[2] rs112520797
NM_017433.5(MYO3A):c.4545+1G>C rs876657652
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688
NM_017433.5(MYO3A):c.585+3C>T rs200381660
NM_017433.5(MYO3A):c.731+4_731+5insTA rs727505119
NM_017439.4(GSAP):c.577-13_577-11del rs56314229
NM_017534.6(MYH2):c.3002del (p.Glu1001fs) rs797045096
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017576.4(KIF27):c.3186T>A (p.Ile1062=) rs295274
NM_017617.5(NOTCH1):c.4319T>C (p.Ile1440Thr) rs778742968
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[3] (p.26DFGGG[3]) rs754008809
NM_017721.5(CC2D1A):c.748+1G>T rs876657679
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) rs1804154342
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571
NM_017780.4(CHD7):c.760C>G (p.Gln254Glu) rs1554581354
NM_017780.4(CHD7):c.7975G>A (p.Gly2659Ser) rs1806047983
NM_017780.4(CHD7):c.8362G>C (p.Asp2788His) rs373204105
NM_017791.3(FLVCR2):c.391dup (p.Met131fs) rs1594785775
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.4(SDHAF2):c.363G>A (p.Trp121Ter) rs1060499901
NM_017841.4(SDHAF2):c.446_447del (p.Lys149fs) rs772219112
NM_017849.4(TMEM127):c.308del (p.Gly103fs) rs727503490
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=) rs200154414
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys) rs200858130
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.2832+462_2832+463insCAC rs10693712
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu) rs61686936
NM_017950.4(CCDC40):c.83A>G (p.Glu28Gly) rs1555889343
NM_018012.4(KIF26B):c.4221G>C (p.Pro1407=) rs3806273
NM_018072.6(HEATR1):c.6347-3dup rs55866014
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018076.5(ODAD2):c.2495+1G>A rs879253744
NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter) rs776034810
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018139.3(DNAAF2):c.1555del (p.Glu519fs) rs1555327917
NM_018139.3(DNAAF2):c.1586A>C (p.Gln529Pro) rs777210474
NM_018139.3(DNAAF2):c.2212A>G (p.Met738Val) rs727502965
NM_018139.3(DNAAF2):c.727G>T (p.Glu243Ter) rs727504815
NM_018198.4(DNAJC11):c.1098-32dup rs56145914
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018406.7(MUC4):c.5879C>G (p.Ser1960Ter) rs558165743
NM_018406.7(MUC4):c.7120T>C (p.Ser2374Pro) rs56359992
NM_018406.7(MUC4):c.8223G>C (p.Glu2741Asp) rs199812923
NM_018406.7(MUC4):c.9781_9782del (p.Asp3261fs) rs757413270
NM_018406.7(MUC4):c.9784_9785insGG (p.Thr3262fs) rs753854746
NM_018407.6(LAPTM4B):c.-67_-52dup rs764278197
NM_018418.5(SPATA7):c.94+2T>C rs786204787
NM_018451.5(CENPJ):c.3217-2A>G rs1555295400
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454
NM_018833.3(TAP2):c.1933-5dup rs61021012
NM_018842.5(BAIAP2L1):c.487-14_487-13insATTA rs372695844
NM_018897.3(DNAH7):c.4549-3del rs61502519
NM_018897.3(DNAH7):c.4897-8del rs11292337
NM_019018.3(OTULINL):c.65-13del rs370428364
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019026.6(TMCO1):c.87_90del (p.Val30fs) rs786204789
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019065.3(NECAB2):c.1132+8dup rs113413576
NM_019086.6(VSIG10):c.1398GGA[6] (p.Glu473_Glu474del) rs67582641
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp) rs36139924
NM_020223.4(FAM20C):c.953_956+30dup rs771282640
NM_020247.5(COQ8A):c.280_284del (p.Ser95fs) rs1658479678
NM_020297.4(ABCC9):c.-14_-8del rs746420722
NM_020297.4(ABCC9):c.1012-14del rs727505105
NM_020297.4(ABCC9):c.1142T>A (p.Ile381Asn) rs397517181
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.1358G>C (p.Gly453Ala) rs397517183
NM_020297.4(ABCC9):c.2000C>A (p.Thr667Lys) rs397517186
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.2644-11G>C rs61926078
NM_020297.4(ABCC9):c.2746C>T (p.Arg916Trp) rs533032970
NM_020297.4(ABCC9):c.3315+4A>G rs727504847
NM_020297.4(ABCC9):c.3474-14C>T rs876657429
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs) rs730880370
NM_020297.4(ABCC9):c.420T>C (p.Tyr140=) rs397517189
NM_020297.4(ABCC9):c.4450-5dup rs4148680
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.573+6T>C rs397517192
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu) rs876657833
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg) rs876657834
NM_020433.5(JPH2):c.497T>G (p.Leu166Arg) rs876657835
NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup) rs864309612
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020435.4(GJC2):c.-14G>C rs745809174
NM_020435.4(GJC2):c.-6G>C rs762585789
NM_020451.3(SELENON):c.746_747+36del rs2047932848
NM_020458.4(TTC7A):c.1641+12G>C rs11885389
NM_020547.3(AMHR2):c.43del (p.Val15fs) rs2136938115
NM_020549.5(CHAT):c.1381G>A (p.Val461Met) rs4838544
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.624-3dup rs397756552
NM_020778.5(ALPK3):c.2645_2670del (p.Gly882fs) rs1963877824
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs) rs745688425
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter) rs200889953
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs) rs1450218521
NM_020877.5(DNAH2):c.4453G>C (p.Asp1485His) rs1060499854
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter) rs1555673917
NM_020964.3(EPG5):c.6622-7del rs11333207
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) rs77316810
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) rs536486113
NM_020975.6(RET):c.3237_3238del (p.Arg1079fs) rs1060499895
NM_020975.6(RET):c.947G>T (p.Ser316Ile) rs1060499894
NM_021116.4(ADCY1):c.2817+5G>A rs1584344150
NM_021116.4(ADCY1):c.3262C>A (p.Pro1088Thr) rs548312101
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup) rs876657812
NM_021167.5(GATAD1):c.249+2T>C rs876657813
NM_021167.5(GATAD1):c.376-13dup rs876657814
NM_021167.5(GATAD1):c.435+15_435+16del rs876657464
NM_021167.5(GATAD1):c.436-13del rs876657465
NM_021167.5(GATAD1):c.492G>A (p.Lys164=) rs397517295
NM_021167.5(GATAD1):c.537C>G (p.Cys179Trp) rs727503061
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) rs1553965519
NM_022034.6(CUZD1):c.818-10_818-9del rs11365591
NM_022034.6(CUZD1):c.818-9del rs11365591
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1386C>G (p.Pro462=) rs2087976511
NM_022081.6(HPS4):c.320G>T (p.Arg107Leu) rs138885334
NM_022114.4(PRDM16):c.-14C>A rs180925565
NM_022114.4(PRDM16):c.1081G>A (p.Val361Met) rs876657957
NM_022114.4(PRDM16):c.1983C>T (p.Ser661=) rs764211215
NM_022114.4(PRDM16):c.2089G>T (p.Ala697Ser) rs779334537
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=) rs372189819
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) rs371654192
NM_022114.4(PRDM16):c.2521_2526dup (p.Gln841_Val842dup) rs776728016
NM_022114.4(PRDM16):c.2809_2810dup (p.Thr938fs) rs876657961
NM_022114.4(PRDM16):c.3109+12G>C rs200643126
NM_022114.4(PRDM16):c.3366CGA[3] (p.Asp1125dup) rs758774731
NM_022114.4(PRDM16):c.3821A>G (p.Asn1274Ser) rs1553180695
NM_022114.4(PRDM16):c.884+39_884+69del rs765185537
NM_022124.5(CDH23):c.(?_3716)_(4146_?)del
NM_022124.5(CDH23):c.[7762G>C;7764G>T]
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.1134+26G>A rs2132520415
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del) rs397517305
NM_022124.6(CDH23):c.1373C>T (p.Pro458Leu) rs1554850744
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys) rs727504613
NM_022124.6(CDH23):c.1449+148_1449+149del rs727502921
NM_022124.6(CDH23):c.1449+1G>T rs876657680
NM_022124.6(CDH23):c.1542CAT[1] (p.Ile515del) rs727502922
NM_022124.6(CDH23):c.1853A>G (p.Tyr618Cys) rs778493031
NM_022124.6(CDH23):c.1949dup (p.Leu651fs) rs753886326
NM_022124.6(CDH23):c.1956C>T (p.Asn652=) rs876657436
NM_022124.6(CDH23):c.2012del (p.Phe671fs) rs397517313
NM_022124.6(CDH23):c.2096A>T (p.Asp699Val) rs1554856028
NM_022124.6(CDH23):c.2149A>G (p.Thr717Ala) rs397517314
NM_022124.6(CDH23):c.2193G>C (p.Thr731=) rs397517315
NM_022124.6(CDH23):c.2289+11_2289+12delinsCT rs876657438
NM_022124.6(CDH23):c.2289+6T>G rs727502924
NM_022124.6(CDH23):c.2290-13del rs397517316
NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys) rs199709482
NM_022124.6(CDH23):c.2691C>T (p.Ala897=) rs1452389958
NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys) rs876657636
NM_022124.6(CDH23):c.2954-5del rs766850828
NM_022124.6(CDH23):c.3028C>A (p.Arg1010Ser) rs727505173
NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn) rs1064796283
NM_022124.6(CDH23):c.3106+4C>T rs1900497
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu) rs377100683
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=) rs377259987
NM_022124.6(CDH23):c.3299C>T (p.Pro1100Leu) rs876657753
NM_022124.6(CDH23):c.3326C>T (p.Ala1109Val) rs727504705
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3486G>T (p.Gly1162=) rs397517324
NM_022124.6(CDH23):c.3566G>T (p.Arg1189Leu) rs876657755
NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter) rs397517326
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala) rs764805425
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.4104+22G>T rs727502926
NM_022124.6(CDH23):c.4276G>A (p.Val1426Ile) rs727505099
NM_022124.6(CDH23):c.4282A>G (p.Ile1428Val) rs747559330
NM_022124.6(CDH23):c.429+9C>A rs727505270
NM_022124.6(CDH23):c.4359+11G>T rs12242607
NM_022124.6(CDH23):c.4396G>T (p.Ala1466Ser) rs1554864704
NM_022124.6(CDH23):c.4555G>C (p.Asp1519His) rs397517330
NM_022124.6(CDH23):c.46del (p.Val16fs) rs397517331
NM_022124.6(CDH23):c.4879G>A (p.Glu1627Lys) rs755926639
NM_022124.6(CDH23):c.4902C>T (p.Phe1634=) rs565823145
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5200G>A (p.Val1734Met) rs397517335
NM_022124.6(CDH23):c.5219A>T (p.Asn1740Ile) rs397517336
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) rs397517337
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe) rs1841063934
NM_022124.6(CDH23):c.5674G>A (p.Ala1892Thr) rs727505054
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.5712+9T>C rs727504996
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln) rs372588663
NM_022124.6(CDH23):c.5789A>G (p.Asp1930Gly) rs763582705
NM_022124.6(CDH23):c.5821G>A (p.Asp1941Asn) rs1589421960
NM_022124.6(CDH23):c.5869_5874del (p.Pro1957_Leu1958del) rs397517345
NM_022124.6(CDH23):c.5923+1G>A rs397517346
NM_022124.6(CDH23):c.5988C>T (p.Ala1996=) rs751701083
NM_022124.6(CDH23):c.6011G>A (p.Gly2004Asp) rs745568647
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6253+4A>G rs1554874375
NM_022124.6(CDH23):c.6412del (p.Glu2138fs) rs111033473
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6713G>C (p.Gly2238Ala) rs727502928
NM_022124.6(CDH23):c.6718G>A (p.Val2240Ile) rs727504694
NM_022124.6(CDH23):c.6786C>T (p.Asp2262=) rs876657440
NM_022124.6(CDH23):c.6846C>T (p.Asn2282=) rs727502929
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.6(CDH23):c.6927C>T (p.Ala2309=) rs765133274
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7056G>A (p.Gly2352=) rs1589428423
NM_022124.6(CDH23):c.7161T>C (p.Pro2387=) rs727504990
NM_022124.6(CDH23):c.7442C>G (p.Pro2481Arg) rs397517351
NM_022124.6(CDH23):c.7483-1G>C rs876657682
NM_022124.6(CDH23):c.7501G>A (p.Asp2501Asn) rs397517352
NM_022124.6(CDH23):c.754-3dup rs730880346
NM_022124.6(CDH23):c.7651C>G (p.Pro2551Ala) rs548188123
NM_022124.6(CDH23):c.7661-14G>C rs767603792
NM_022124.6(CDH23):c.7671T>C (p.His2557=) rs1408981265
NM_022124.6(CDH23):c.7806C>T (p.Ile2602=) rs1554876358
NM_022124.6(CDH23):c.781A>C (p.Ile261Leu) rs876657757
NM_022124.6(CDH23):c.7873-2A>T rs727502933
NM_022124.6(CDH23):c.7921G>C (p.Asp2641His) rs397517354
NM_022124.6(CDH23):c.7979_7986del (p.Asp2660fs) rs727504761
NM_022124.6(CDH23):c.8064+1G>T rs1474524543
NM_022124.6(CDH23):c.8065C>T (p.Leu2689Phe) rs759319741
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys) rs397517357
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del) rs876657758
NM_022124.6(CDH23):c.8574C>T (p.Asp2858=) rs572176102
NM_022124.6(CDH23):c.8650_8667del (p.Ser2884_His2889del) rs397517359
NM_022124.6(CDH23):c.8710G>A (p.Val2904Ile) rs746121407
NM_022124.6(CDH23):c.8723-4G>A rs397517360
NM_022124.6(CDH23):c.8781C>A (p.Tyr2927Ter) rs397517362
NM_022124.6(CDH23):c.8792A>C (p.Asp2931Ala) rs727502934
NM_022124.6(CDH23):c.9086A>C (p.Gln3029Pro) rs397517365
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) rs1554877806
NM_022124.6(CDH23):c.9278+2dup rs727502935
NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu) rs876657760
NM_022124.6(CDH23):c.945+1G>T rs727502919
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) rs773464867
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9746A>G (p.Gln3249Arg) rs876657761
NM_022149.5(MAGEF1):c.456GGA[9] (p.Glu157_Glu158dup) rs34995413
NM_022336.3(EDAR):c.(?_509)_(803_?)+34del
NM_022336.3(EDAR):c.(?_998)_(1347_?)del
NM_022437.3(ABCG8):c.965-1G>A rs957176669
NM_022489.4(INF2):c.2019_2022del (p.Lys673fs) rs1060499868
NM_022662.4(ANAPC1):c.1393C>T (p.Gln465Ter) rs72936240
NM_023013.4(PRAMEF1):c.321T>C (p.Asp107=) rs76193255
NM_023013.4(PRAMEF1):c.329A>G (p.Glu110Gly) rs76648802
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=) rs9908476
NM_023036.6(DNAI2):c.1672_1673del (p.Ala558fs) rs1598348312
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024164.6(TPSB2):c.68G>T (p.Gly23Val) rs201836020
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3603-1G>A rs35576380
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.147A>G (p.Leu49=) rs727504629
NM_024334.3(TMEM43):c.163-1G>C rs1060499911
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.297+13G>A rs397517381
NM_024334.3(TMEM43):c.392+4A>G rs397517382
NM_024334.3(TMEM43):c.399C>T (p.Tyr133=) rs876657589
NM_024334.3(TMEM43):c.486_489del (p.Asp162fs) rs1060499910
NM_024334.3(TMEM43):c.51T>G (p.Val17=) rs397517383
NM_024334.3(TMEM43):c.583+3A>G rs876658021
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln) rs769969149
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val) rs727504764
NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs) rs372504208
NM_024422.6(DSC2):c.-222C>A rs727505136
NM_024422.6(DSC2):c.-243_-234del rs552918051
NM_024422.6(DSC2):c.1001G>T (p.Gly334Val) rs397517388
NM_024422.6(DSC2):c.1028_1030del (p.Ile343del) rs1555639121
NM_024422.6(DSC2):c.1077+2T>G rs397517389
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.154+1G>A rs397517393
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg) rs199616533
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2174C>T (p.Pro725Leu) rs876657788
NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser) rs727502979
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser) rs565136635
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.474+5C>A rs397517400
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro) rs876657789
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser) rs876657787
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) rs142331975
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.702G>A (p.Glu234=) rs397517402
NM_024422.6(DSC2):c.721C>T (p.Pro241Ser) rs727505169
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro) rs966660258
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys) rs397517404
NM_024422.6(DSC2):c.844T>C (p.Tyr282His) rs397517405
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.942+16A>T rs111347888
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024503.5(HIVEP3):c.6814G>A (p.Gly2272Arg) rs11809423
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024721.5(ZFHX4):c.3965-1G>A rs1812496169
NM_024736.7(GSDMD):c.410+13AGGGC[5] rs59118283
NM_024747.6(HPS6):c.1261C>G (p.Leu421Val) rs1590263556
NM_024747.6(HPS6):c.150G>A (p.Gly50=) rs727503091
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) rs786204788
NM_024818.6(UBA5):c.813G>C (p.Lys271Asn) rs1576652827
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) rs370196002
NM_024915.4(GRHL2):c.1764-12C>G rs371424751
NM_024915.4(GRHL2):c.1806G>C (p.Ser602=) rs61732855
NM_024915.4(GRHL2):c.285-14del rs727504472
NM_024915.4(GRHL2):c.319T>A (p.Leu107Met) rs1048525846
NM_024915.4(GRHL2):c.449T>G (p.Ile150Ser) rs727504883
NM_024915.4(GRHL2):c.974A>C (p.His325Pro) rs1586112160
NM_024996.7(GFM1):c.54del (p.Ala19fs) rs765266988
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025128.5(MUS81):c.1248G>T (p.Thr416=) rs558114
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs) rs750663981
NM_025220.5(ADAM33):c.2412_2419del (p.Gln804fs) rs17548837
NM_030632.3(ASXL3):c.3547C>G (p.Gln1183Glu) rs1599571554
NM_030662.4(MAP2K2):c.-27CCG[6] rs397517411
NM_030662.4(MAP2K2):c.169T>A (p.Phe57Ile) rs121434498
NM_030662.4(MAP2K2):c.174C>T (p.Leu58=) rs876657504
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.287_288delinsGT (p.Leu96Arg) rs397517412
NM_030662.4(MAP2K2):c.320T>A (p.Ile107Asn) rs1555698037
NM_030662.4(MAP2K2):c.32C>G (p.Ala11Gly) rs1555699410
NM_030662.4(MAP2K2):c.383C>G (p.Pro128Arg) rs267607230
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala) rs397517415
NM_030662.4(MAP2K2):c.564C>T (p.His188=) rs546749336
NM_030662.4(MAP2K2):c.578G>A (p.Arg193Gln) rs530342723
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.4(MAP2K2):c.658A>G (p.Ile220Val) rs727504363
NM_030662.4(MAP2K2):c.705+11G>A rs202086678
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_030662.4(MAP2K2):c.706-1_706delinsTT rs1599287155
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728
NM_030662.4(MAP2K2):c.834C>A (p.Ile278=) rs766540227
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del) rs763469132
NM_030782.5(CLPTM1L):c.220G>C (p.Val74Leu) rs200649005
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030930.4(UNC93B1):c.890dup (p.Leu298fs) rs1060499915
NM_030931.4(DEFB126):c.163_166del (p.Gln55fs) rs11467497
NM_030931.4(DEFB126):c.317_318del (p.Pro106fs) rs11467417
NM_031420.4(MRPL9):c.589-27_589-26dup rs755031728
NM_031427.4(DNAL1):c.-14T>G rs876657784
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer) rs876657637
NM_031475.3(ESPN):c.1049C>G (p.Pro350Arg) rs143645714
NM_031475.3(ESPN):c.1192+8T>C rs876657461
NM_031475.3(ESPN):c.2253C>G (p.Pro751=) rs371034506
NM_031475.3(ESPN):c.2253C>T (p.Pro751=) rs371034506
NM_031475.3(ESPN):c.2502G>A (p.Glu834=) rs1644131182
NM_031475.3(ESPN):c.382G>T (p.Gly128Cys) rs145666801
NM_031475.3(ESPN):c.871C>G (p.Leu291Val) rs1348183531
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_032119.3(ADGRV1):c.(?_17020)-19_(17856_?)+58dup
NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del
NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del
NM_032119.4(ADGRV1):c.-11G>A rs727504484
NM_032119.4(ADGRV1):c.10060_10063del (p.Thr3354fs) rs727504978
NM_032119.4(ADGRV1):c.10161+9C>A rs537317888
NM_032119.4(ADGRV1):c.10214G>A (p.Arg3405Gln) rs727504728
NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup) rs397517418
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn) rs727504607
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=) rs138029547
NM_032119.4(ADGRV1):c.11178T>A (p.Asp3726Glu) rs1554104329
NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter) rs376689763
NM_032119.4(ADGRV1):c.11426T>A (p.Leu3809His) rs368086521
NM_032119.4(ADGRV1):c.11581-3dup rs34894132
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs) rs1400695342
NM_032119.4(ADGRV1):c.12121-13T>C rs727503079
NM_032119.4(ADGRV1):c.12283G>A (p.Glu4095Lys) rs876657818
NM_032119.4(ADGRV1):c.12332T>C (p.Val4111Ala) rs1554111603
NM_032119.4(ADGRV1):c.1237A>C (p.Arg413=) rs1554064773
NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys) rs577389548
NM_032119.4(ADGRV1):c.12654T>C (p.Ile4218=) rs876657470
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu) rs571603222
NM_032119.4(ADGRV1):c.12849+5_12849+6insAA rs1554113222
NM_032119.4(ADGRV1):c.12989G>A (p.Arg4330Lys) rs532605331
NM_032119.4(ADGRV1):c.13072C>T (p.Leu4358Phe) rs1554113480
NM_032119.4(ADGRV1):c.13201G>A (p.Glu4401Lys) rs876657819
NM_032119.4(ADGRV1):c.13364G>A (p.Ser4455Asn) rs727503081
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.13712A>G (p.Asp4571Gly) rs876657820
NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe) rs727503082
NM_032119.4(ADGRV1):c.14043+8T>C rs727503083
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=) rs727504605
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu) rs201747452
NM_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu) rs753803615
NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile) rs373391623
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter) rs876657694
NM_032119.4(ADGRV1):c.15855A>G (p.Leu5285=) rs727505154
NM_032119.4(ADGRV1):c.15893C>T (p.Thr5298Ile) rs369030097
NM_032119.4(ADGRV1):c.15G>C (p.Leu5=) rs973537840
NM_032119.4(ADGRV1):c.16010G>A (p.Gly5337Glu) rs1475775451
NM_032119.4(ADGRV1):c.16098C>T (p.Gly5366=) rs876657471
NM_032119.4(ADGRV1):c.1623T>C (p.Phe541=) rs1580513065
NM_032119.4(ADGRV1):c.16845C>A (p.Ala5615=) rs1765358320
NM_032119.4(ADGRV1):c.16931T>C (p.Leu5644Pro) rs879250689
NM_032119.4(ADGRV1):c.16989A>T (p.Gln5663His) rs1765372607
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.1701del (p.Leu568fs) rs876657695
NM_032119.4(ADGRV1):c.17092C>G (p.Leu5698Val) rs727503084
NM_032119.4(ADGRV1):c.1711A>G (p.Lys571Glu) rs397517425
NM_032119.4(ADGRV1):c.17184T>C (p.Thr5728=) rs727503085
NM_032119.4(ADGRV1):c.17205-10T>G rs876657821
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) rs727504644
NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs) rs397517426
NM_032119.4(ADGRV1):c.17777C>T (p.Ser5926Phe) rs1554139681
NM_032119.4(ADGRV1):c.17856+4G>A rs727505212
NM_032119.4(ADGRV1):c.18141T>G (p.Ile6047Met) rs888089676
NM_032119.4(ADGRV1):c.18195T>C (p.Ala6065=) rs542501546
NM_032119.4(ADGRV1):c.18211T>A (p.Cys6071Ser) rs1554214818
NM_032119.4(ADGRV1):c.18311-9dup rs140911567
NM_032119.4(ADGRV1):c.18803-4G>T rs80335659
NM_032119.4(ADGRV1):c.2292A>G (p.Leu764=) rs1580561562
NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter) rs1554068885
NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs) rs397517429
NM_032119.4(ADGRV1):c.3370G>A (p.Glu1124Lys) rs876657825
NM_032119.4(ADGRV1):c.3841G>A (p.Val1281Ile) rs1294773650
NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu) rs546224817
NM_032119.4(ADGRV1):c.4094C>A (p.Ala1365Asp) rs397517430
NM_032119.4(ADGRV1):c.425A>G (p.Asn142Ser) rs727504665
NM_032119.4(ADGRV1):c.5102A>G (p.His1701Arg) rs876657826
NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser) rs535038304
NM_032119.4(ADGRV1):c.5337T>C (p.Phe1779=) rs755537414
NM_032119.4(ADGRV1):c.5460G>A (p.Arg1820=) rs876657473
NM_032119.4(ADGRV1):c.5568C>T (p.Ala1856=) rs727504772
NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs) rs727503076
NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928fs) rs730880369
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) rs41303352
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_032119.4(ADGRV1):c.6161G>A (p.Ser2054Asn) rs558843030
NM_032119.4(ADGRV1):c.6290G>T (p.Arg2097Leu) rs572910896
NM_032119.4(ADGRV1):c.6382C>A (p.Arg2128=) rs727504561
NM_032119.4(ADGRV1):c.640G>A (p.Val214Ile) rs876657474
NM_032119.4(ADGRV1):c.6648G>T (p.Gly2216=) rs767618412
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp) rs377475657
NM_032119.4(ADGRV1):c.7176C>G (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.7374_7375del (p.Glu2459fs) rs397517435
NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter) rs397517436
NM_032119.4(ADGRV1):c.7452A>T (p.Lys2484Asn) rs397517437
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.7954A>G (p.Lys2652Glu) rs1747265965
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=) rs556164327
NM_032119.4(ADGRV1):c.8127A>G (p.Thr2709=) rs1469847535
NM_032119.4(ADGRV1):c.8155+4G>T rs397517438
NM_032119.4(ADGRV1):c.8198G>T (p.Arg2733Leu) rs749383906
NM_032119.4(ADGRV1):c.8300C>T (p.Thr2767Ile) rs1554088550
NM_032119.4(ADGRV1):c.8386G>C (p.Gly2796Arg) rs1554088629
NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter) rs758834029
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_032119.4(ADGRV1):c.8737del (p.Val2913fs) rs397517441
NM_032119.4(ADGRV1):c.9255C>G (p.Phe3085Leu) rs727503077
NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn) rs201511311
NM_032119.4(ADGRV1):c.9590T>C (p.Leu3197Ser) rs727504685
NM_032119.4(ADGRV1):c.9746T>C (p.Met3249Thr) rs1750855092
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629
NM_032122.5(DTNBP1):c.489-8dup rs199770715
NM_032153.6(ZIC4):c.966G>C (p.Ser322=) rs17509456
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_032229.3(SLITRK6):c.1492C>T (p.Pro498Ser) rs755925837
NM_032229.3(SLITRK6):c.2414A>G (p.Tyr805Cys) rs1874622846
NM_032229.3(SLITRK6):c.769A>G (p.Ile257Val) rs1874698672
NM_032380.5(GFM2):c.13_14del (p.Leu5fs) rs1412568004
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032409.3(PINK1):c.620del (p.Arg207fs) rs756677845
NM_032415.7(CARD11):c.1245C>T (p.Asp415=) rs6945582
NM_032520.5(GNPTG):c.178+1G>A rs1596603769
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) rs1060499690
NM_032578.4(MYPN):c.1132A>C (p.Ile378Leu) rs1554842686
NM_032578.4(MYPN):c.1741G>C (p.Val581Leu) rs1464184643
NM_032578.4(MYPN):c.2028A>G (p.Gln676=) rs876657537
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg) rs3814182
NM_032578.4(MYPN):c.2443A>G (p.Ile815Val) rs876657922
NM_032578.4(MYPN):c.2756G>A (p.Arg919His) rs193022869
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp) rs876657919
NM_032578.4(MYPN):c.637A>G (p.Ile213Val) rs199476402
NM_032578.4(MYPN):c.785A>G (p.Glu262Gly) rs876657924
NM_032578.4(MYPN):c.893C>T (p.Pro298Leu) rs2042258631
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.2736dup (p.Pro913fs) rs1587159769
NM_032790.4(ORAI1):c.792T>C (p.His264=) rs1060499887
NM_032830.3(UTP4):c.1372C>T (p.Gln458Ter) rs1060499849
NM_032861.4(SERAC1):c.21C>A (p.Cys7Ter) rs139301835
NM_033026.6(PCLO):c.7272C>T (p.Pro2424=) rs1060499888
NM_033056.3(PCDH15):c.(?_-15)_(876_?)del
NM_033056.3(PCDH15):c.(?_3374)_(3501_?)del
NM_033056.3(PCDH15):c.1917+33_1917+34dup rs5785040
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.4(PCDH15):c.4568G>A (p.Ser1523Asn) rs1377421029
NM_033056.4(PCDH15):c.4592A>G (p.Glu1531Gly) rs397517460
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs) rs781231890
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1]) rs727503363
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser) rs751914445
NM_033056.4(PCDH15):c.5346T>A (p.Ser1782=) rs397517468
NM_033056.4(PCDH15):c.5349T>G (p.Pro1783=) rs727505113
NM_033056.4(PCDH15):c.5352T>A (p.Pro1784=) rs727505100
NM_033056.4(PCDH15):c.5358C>A (p.Ile1786=) rs727503361
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=) rs753289924
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033118.4(MYLK2):c.1016A>G (p.His339Arg) rs397517471
NM_033118.4(MYLK2):c.1659C>G (p.Arg553=) rs727504624
NM_033118.4(MYLK2):c.1669C>G (p.Gln557Glu) rs763971356
NM_033118.4(MYLK2):c.16G>A (p.Gly6Arg) rs727503302
NM_033118.4(MYLK2):c.1711-4C>T rs372190501
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys) rs766199082
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu) rs727505328
NM_033118.4(MYLK2):c.277C>A (p.Pro93Thr) rs397517473
NM_033118.4(MYLK2):c.340G>A (p.Glu114Lys) rs727503303
NM_033118.4(MYLK2):c.344A>C (p.Gln115Pro) rs727504681
NM_033118.4(MYLK2):c.802C>T (p.Pro268Ser) rs397517475
NM_033124.5(CCDC65):c.877_878del (p.Ile293fs) rs863223325
NM_033132.5(ZIC5):c.1155GCC[11] (p.Pro400del) rs71114653
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) rs1825188183
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs) rs1587612257
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033360.4(KRAS):c.-178_-170del rs397517035
NM_033360.4(KRAS):c.261del (p.Lys88fs) rs397517038
NM_033380.3(COL4A5):c.1559C>T (p.Ala520Val) rs2066528784
NM_033380.3(COL4A5):c.2109C>T (p.Ile703=) rs369092053
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val) rs760570519
NM_033409.4(SLC52A3):c.*13C>A rs768028308
NM_033409.4(SLC52A3):c.-14_-6del rs11467076
NM_033409.4(SLC52A3):c.1263G>T (p.Leu421=) rs1599955750
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=) rs574008733
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met) rs3746803
NM_033409.4(SLC52A3):c.94A>T (p.Met32Leu) rs751913684
NM_052854.3(CREB3L1):c.1525dup rs79068197
NM_053003.4(SIGLEC12):c.196dup (p.Ala66fs) rs66949844
NM_053025.4(MYLK):c.2938dup (p.Asp980fs) rs1553803719
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053274.3(GLMN):c.1355del (p.Leu452fs) rs773435694
NM_053274.3(GLMN):c.554_558delinsG (p.Lys185fs) rs1570964992
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.197A>G (p.Asp66Gly) rs1570272506
NM_057176.3(BSND):c.393G>T (p.Leu131Phe) rs201387711
NM_057176.3(BSND):c.409G>C (p.Gly137Arg) rs749600956
NM_057176.3(BSND):c.810C>T (p.Tyr270=) rs1451582678
NM_057176.3(BSND):c.821A>C (p.Lys274Thr) rs547338387
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896
NM_057176.3(BSND):c.951C>A (p.Asp317Glu) rs876657432
NM_058180.5(C21orf58):c.876CCA[8] (p.His299dup) rs71318063
NM_080424.4(SP110):c.877A>T (p.Lys293Ter) rs199845488
NM_080680.3(COL11A2):c.1119+1G>C rs367706373
NM_080680.3(COL11A2):c.1427C>T (p.Ala476Val) rs373983482
NM_080680.3(COL11A2):c.1557+5C>T rs771087374
NM_080680.3(COL11A2):c.1666-11CCT[2] rs147815324
NM_080680.3(COL11A2):c.1678T>G (p.Phe560Val) rs876657764
NM_080680.3(COL11A2):c.1817C>G (p.Ser606Trp) rs147328015
NM_080680.3(COL11A2):c.1872+5G>A rs727504891
NM_080680.3(COL11A2):c.2065C>T (p.Pro689Ser) rs766440021
NM_080680.3(COL11A2):c.2516A>T (p.Glu839Val) rs1770531178
NM_080680.3(COL11A2):c.2529+13del rs763299239
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2629-15dup rs727502942
NM_080680.3(COL11A2):c.2758C>A (p.Pro920Thr) rs727502940
NM_080680.3(COL11A2):c.2899-9del rs397517477
NM_080680.3(COL11A2):c.2983A>G (p.Thr995Ala) rs1554217436
NM_080680.3(COL11A2):c.3031C>G (p.Pro1011Ala) rs997533180
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3116G>T (p.Gly1039Val) rs1554216943
NM_080680.3(COL11A2):c.3313-3C>T rs755108811
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser) rs372806452
NM_080680.3(COL11A2):c.3531A>G (p.Gly1177=) rs530771165
NM_080680.3(COL11A2):c.3556G>A (p.Gly1186Ser) rs876657765
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser) rs374515005
NM_080680.3(COL11A2):c.4610C>T (p.Pro1537Leu) rs1554212071
NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp) rs778962979
NM_080680.3(COL11A2):c.4943A>T (p.His1648Leu) rs1487325262
NM_080680.3(COL11A2):c.5150A>T (p.Asp1717Val) rs1554210895
NM_080680.3(COL11A2):c.799-13C>T rs876657443
NM_080680.3(COL11A2):c.799-4C>A rs111227109
NM_080680.3(COL11A2):c.808_813delinsATTGGGCTCG (p.Ser270fs) rs1554224412
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_080680.3(COL11A2):c.966C>A (p.Pro322=) rs147527758
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter) rs727503394
NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) rs863223949
NM_130810.4(DNAAF4):c.-3G>A rs3743205
NM_130810.4(DNAAF4):c.523del (p.Ile175fs) rs751610886
NM_133261.3(GIPC3):c.226-7C>G rs143968967
NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) rs747242422
NM_133261.3(GIPC3):c.279_295del (p.Gln95fs) rs727504771
NM_133261.3(GIPC3):c.381G>A (p.Thr127=) rs766652884
NM_133261.3(GIPC3):c.411+1G>A rs876657692
NM_133261.3(GIPC3):c.411+6C>T rs764713230
NM_133261.3(GIPC3):c.576G>A (p.Gln192=) rs727504632
NM_133261.3(GIPC3):c.596T>C (p.Met199Thr) rs1241786174
NM_133261.3(GIPC3):c.66C>T (p.Pro22=) rs1269578352
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_133261.3(GIPC3):c.69G>C (p.Ala23=) rs150473323
NM_133261.3(GIPC3):c.787+5G>C rs876657816
NM_133261.3(GIPC3):c.821C>T (p.Ala274Val) rs149028750
NM_133261.3(GIPC3):c.939G>C (p.Ter313Tyr) rs1172324481
NM_133338.3(RAD17):c.1593A>G (p.Ala531=) rs1060499892
NM_133378.4(TTN):c.10361-1262dup rs876657673
NM_133378.4(TTN):c.19367-15_19367-11dup rs876658044
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825
NM_133378.4(TTN):c.[45418A>G;45419A>T]
NM_133378.4(TTN):c.[68689_68692delAACA;98315delG]
NM_133379.5(TTN):c.10453G>C (p.Ala3485Pro) rs727503675
NM_133379.5(TTN):c.10559C>T (p.Pro3520Leu) rs189445085
NM_133379.5(TTN):c.11225del (p.Leu3742fs) rs727503670
NM_133379.5(TTN):c.11638A>G (p.Ser3880Gly) rs542259495
NM_133379.5(TTN):c.11925G>A (p.Val3975=) rs562072193
NM_133379.5(TTN):c.12502G>A (p.Ala4168Thr) rs1367949983
NM_133379.5(TTN):c.12654T>G (p.Ile4218Met) rs727503668
NM_133379.5(TTN):c.12887C>T (p.Pro4296Leu) rs727504927
NM_133379.5(TTN):c.12946G>A (p.Glu4316Lys) rs727503667
NM_133379.5(TTN):c.12997dup (p.Ile4333fs) rs397517806
NM_133379.5(TTN):c.13075G>A (p.Ala4359Thr) rs876658103
NM_133379.5(TTN):c.13221G>A (p.Lys4407=) rs529300203
NM_133379.5(TTN):c.13252T>A (p.Tyr4418Asn) rs876658104
NM_133379.5(TTN):c.13295A>G (p.Asn4432Ser) rs397517808
NM_133379.5(TTN):c.13633G>A (p.Ala4545Thr) rs147884688
NM_133379.5(TTN):c.13814T>C (p.Ile4605Thr) rs397517810
NM_133379.5(TTN):c.14026A>G (p.Ile4676Val) rs397517811
NM_133379.5(TTN):c.14258G>T (p.Cys4753Phe) rs397517812
NM_133379.5(TTN):c.14493C>T (p.Cys4831=) rs876657620
NM_133379.5(TTN):c.14615C>G (p.Ser4872Cys) rs876658105
NM_133379.5(TTN):c.14688T>C (p.Thr4896=) rs727503666
NM_133379.5(TTN):c.15002A>T (p.Lys5001Met) rs727504519
NM_133379.5(TTN):c.15280_15312del (p.5058TLERYSTPPGE[4]) rs397517814
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_133379.5(TTN):c.15520A>G (p.Ile5174Val) rs727504853
NM_133379.5(TTN):c.15606C>T (p.Phe5202=) rs138122578
NM_133379.5(TTN):c.15660A>G (p.Lys5220=) rs876657621
NM_133379.5(TTN):c.16174C>A (p.Pro5392Thr) rs397517818
NM_133379.5(TTN):c.16264C>G (p.Pro5422Ala) rs397517820
NM_133379.5(TTN):c.16384G>A (p.Ala5462Thr) rs876658106
NM_133379.5(TTN):c.16387_16390del (p.Ile5463fs) rs397517822
NM_133379.5(TTN):c.16432G>A (p.Val5478Met) rs72648915
NM_133379.5(TTN):c.16584T>C (p.Gly5528=) rs876657622
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138420.4(AHNAK2):c.9650T>C (p.Leu3217Pro) rs200384326
NM_138420.4(AHNAK2):c.9779T>C (p.Met3260Thr) rs28714612
NM_138477.4(CDAN1):c.1791_1792delinsTCTTGCCCTGGGCTTGAAGA (p.Glu597_Leu598delinsAspLeuAlaLeuGlyLeuLysIle) rs1555415486
NM_138691.3(TMC1):c.*15G>A rs727503489
NM_138691.3(TMC1):c.*1T>A rs727503488
NM_138691.3(TMC1):c.1022A>C (p.Asn341Thr) rs727504568
NM_138691.3(TMC1):c.1224+5G>A rs397517835
NM_138691.3(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138691.3(TMC1):c.1265C>A (p.Thr422Lys) rs868082421
NM_138691.3(TMC1):c.1369T>C (p.Phe457Leu) rs397517836
NM_138691.3(TMC1):c.1532C>A (p.Pro511His) rs727503483
NM_138691.3(TMC1):c.1567-4A>G rs369562300
NM_138691.3(TMC1):c.1677G>A (p.Trp559Ter) rs876657729
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.1796G>A (p.Gly599Asp) rs727503486
NM_138691.3(TMC1):c.1798A>G (p.Ile600Val) rs202144745
NM_138691.3(TMC1):c.1874G>C (p.Arg625Thr) rs762417969
NM_138691.3(TMC1):c.1902C>G (p.Asn634Lys) rs767285617
NM_138691.3(TMC1):c.1988A>G (p.Asp663Gly) rs397517837
NM_138691.3(TMC1):c.1992T>G (p.Cys664Trp) rs727503487
NM_138691.3(TMC1):c.215_219dup (p.Arg74fs) rs730880359
NM_138691.3(TMC1):c.22del (p.Ile8fs) rs727504554
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138691.3(TMC1):c.403G>A (p.Gly135Arg) rs397517841
NM_138691.3(TMC1):c.532G>A (p.Glu178Lys) rs1588060117
NM_138691.3(TMC1):c.557C>G (p.Ala186Gly) rs727504470
NM_138691.3(TMC1):c.741+1G>A rs1588067173
NM_138691.3(TMC1):c.791G>C (p.Arg264Pro) rs147147941
NM_138691.3(TMC1):c.7C>A (p.Pro3Thr) rs569626109
NM_138691.3(TMC1):c.841G>T (p.Gly281Trp) rs397517842
NM_138691.3(TMC1):c.951C>G (p.Val317=) rs1588083627
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_139027.6(ADAMTS13):c.415-1G>A rs1554785114
NM_139027.6(ADAMTS13):c.420= (p.Ala140=)
NM_139242.4(MTFMT):c.1100_1101del (p.Phe367fs) rs754222633
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_139284.3(LGI4):c.794-2A>G rs1600470209
NM_139319.3(SLC17A8):c.1298-14dup rs730880358
NM_144498.4(OSBPL2):c.*23C>G rs115390538
NM_144498.4(OSBPL2):c.*23C>T rs115390538
NM_144573.3(NEXN):c.2026_*1del rs794729094
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1181_1182del (p.Glu394fs) rs727504874
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_144573.4(NEXN):c.1430T>G (p.Ile477Ser) rs727504658
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly) rs397517847
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1660-11_1660-7del rs727503344
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup) rs397517848
NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del) rs397517851
NM_144573.4(NEXN):c.1773A>G (p.Thr591=) rs727503345
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del) rs876657928
NM_144573.4(NEXN):c.1887A>G (p.Gln629=) rs727503346
NM_144573.4(NEXN):c.1937C>A (p.Pro646Gln) rs397517852
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144573.4(NEXN):c.2015A>G (p.Glu672Gly) rs876657930
NM_144573.4(NEXN):c.220A>C (p.Ile74Leu) rs727503342
NM_144573.4(NEXN):c.249G>C (p.Glu83Asp) rs372532824
NM_144573.4(NEXN):c.299-14del rs397517855
NM_144573.4(NEXN):c.677del (p.Ser226fs) rs397517859
NM_144573.4(NEXN):c.864G>T (p.Met288Ile) rs371666396
NM_144573.4(NEXN):c.86G>T (p.Gly29Val) rs876657931
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del) rs727505124
NM_144651.5(PXDNL):c.3693-23dup rs5891410
NM_144672.3(OTOA):c.(?_-46)_(2431_?)+58del
NM_144672.3(OTOA):c.(?_1)_(3420_?)del
NM_144672.3(OTOA):c.(?_2302)_(2431_?)del
NM_144672.4(OTOA):c.1024G>C (p.Asp342His) rs1597824772
NM_144672.4(OTOA):c.1104+12G>C rs143853515
NM_144672.4(OTOA):c.1105-10C>T rs727503349
NM_144672.4(OTOA):c.1109A>G (p.Lys370Arg) rs727505354
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_144672.4(OTOA):c.1186G>A (p.Gly396Ser) rs1898305690
NM_144672.4(OTOA):c.1322T>C (p.Val441Ala) rs1555499893
NM_144672.4(OTOA):c.1500G>C (p.Ala500=) rs199908646
NM_144672.4(OTOA):c.1688+1G>T rs727503350
NM_144672.4(OTOA):c.1765del (p.Gln589fs) rs775776282
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg) rs727503351
NM_144672.4(OTOA):c.2222G>C (p.Trp741Ser) rs727505120
NM_144672.4(OTOA):c.268-2A>G rs770892393
NM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs) rs876657716
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_144672.4(OTOA):c.851T>C (p.Phe284Ser) rs727503348
NM_144672.4(OTOA):c.96G>T (p.Leu32Phe) rs372826296
NM_144672.4(OTOA):c.981-147A>G rs727505172
NM_144684.4(ZNF480):c.9_10del (p.Cys3_Asp4delinsTer) rs3217319
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=) rs12460528
NM_144687.4(NLRP12):c.2469C>T (p.Leu823=) rs12460528
NM_144991.3(TSPEAR):c.131C>T (p.Ala44Val) rs145231394
NM_144991.3(TSPEAR):c.1372T>G (p.Trp458Gly) rs782168687
NM_144991.3(TSPEAR):c.1493G>A (p.Gly498Asp) rs782040120
NM_144991.3(TSPEAR):c.1836G>T (p.Ser612=) rs112006551
NM_144991.3(TSPEAR):c.1864G>A (p.Gly622Ser) rs876658039
NM_144991.3(TSPEAR):c.1925C>G (p.Ala642Gly) rs782299333
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.446del (p.Gly149fs) rs727504645
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro) rs876657646
NM_145038.5(DRC1):c.495T>G (p.Ala165=) rs7423300
NM_145861.4(EDARADD):c.299_300insAAC (p.Cys100Ter) rs797045087
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147129.5(ALS2CL):c.2583del (p.Thr860_Tyr861insTer) rs761960683
NM_147196.2(TMIE):c.(?_-216)_*(1276_?)dup
NM_147196.3(TMIE):c.123G>A (p.Pro41=) rs765221463
NM_147196.3(TMIE):c.211+3G>C rs397517865
NM_147196.3(TMIE):c.247C>T (p.Pro83Ser) rs876658019
NM_147196.3(TMIE):c.251G>T (p.Arg84Leu) rs397517866
NM_147196.3(TMIE):c.367AAG[10] (p.Lys131dup) rs10578999
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del) rs10578999
NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del) rs10578999
NM_147196.3(TMIE):c.367_393= (p.Lys123_Lys131=) rs10578999
NM_147196.3(TMIE):c.388_391delinsG (p.Lys130_Lys131delinsGlu) rs397517868
NM_147196.3(TMIE):c.390G>A (p.Lys130=) rs1472645388
NM_152296.5(ATP1A3):c.2330T>A (p.Ile777Asn) rs1599706522
NM_152363.6(ANKLE1):c.*140_*143del rs758109052
NM_152393.3(KLHL40):c.[1849T>C;1850G>A]
NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter) rs137852216
NM_152515.5(CKAP2L):c.1534_1537del (p.Lys512fs) rs989196851
NM_152559.3(METTL27):c.389-13CA[7] rs375025208
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152594.3(SPRED1):c.-12G>T rs371200183
NM_152594.3(SPRED1):c.1108C>T (p.Leu370Phe) rs397517870
NM_152594.3(SPRED1):c.1110C>G (p.Leu370=) rs876657584
NM_152594.3(SPRED1):c.423+2T>C rs1555391161
NM_152597.5(FSIP1):c.127-14G>T rs1565560
NM_152732.5(RSPH9):c.824_825delinsAT (p.Met275Asn) rs727503395
NM_153676.4(USH1C):c.-15G>C rs1554965975
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.1413+13C>T rs876657623
NM_153676.4(USH1C):c.1548G>C (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1574T>C (p.Leu525Pro) rs727504790
NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr) rs727503711
NM_153676.4(USH1C):c.1699C>T (p.Pro567Ser) rs549628785
NM_153676.4(USH1C):c.1767C>T (p.Ser589=) rs770217616
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr) rs727503710
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1838C>T (p.Thr613Ile) rs146191588
NM_153676.4(USH1C):c.1944G>T (p.Glu648Asp) rs1213612823
NM_153676.4(USH1C):c.2046C>T (p.Gly682=) rs1554955894
NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser) rs397517873
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2302C>A (p.Leu768Met) rs876658110
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.248+7_248+20del rs749047869
NM_153676.4(USH1C):c.2579C>T (p.Pro860Leu) rs876658112
NM_153676.4(USH1C):c.264G>A (p.Val88=) rs397517879
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.496+13A>G rs111033277
NM_153676.4(USH1C):c.496+21G>T rs111033278
NM_153676.4(USH1C):c.7C>A (p.Arg3=) rs876657624
NM_153676.4(USH1C):c.909G>T (p.Arg303=) rs1850478673
NM_153682.3(PIGP):c.-22-15_-18dup rs769435671
NM_153700.2(STRC):c.(?_1)_(5328_?)del
NM_153700.2(STRC):c.(?_3499)-60_(3557_?)+31del
NM_153700.2(STRC):c.(?_3519)_(3557_?)+28dup
NM_153700.2(STRC):c.(?_3795)_(4993_?)del
NM_153700.2(STRC):c.(?_4376)-190_(4845_?)-68del
NM_153700.2(STRC):c.(?_4443)_(4845_?)-68del
NM_153700.2(STRC):c.(?_4443)_(4845_?)-68dup
NM_153700.2(STRC):c.(?_4702)_(4993_?)del
NM_153700.2(STRC):c.(?_4845)-59_(4993_?)+61dup
NM_153700.2(STRC):c.1086C>A (p.Tyr362Ter) rs876657724
NM_153700.2(STRC):c.1613G>T (p.Cys538Phe) rs876658006
NM_153700.2(STRC):c.2016A>G (p.Leu672=) rs62018893
NM_153700.2(STRC):c.2172T>C (p.Val724=) rs1308469405
NM_153700.2(STRC):c.22CTG[10] (p.Leu18del) rs1567120678
NM_153700.2(STRC):c.2303_2313+1del rs1021413948
NM_153700.2(STRC):c.2356del (p.Leu786fs) rs1432916745
NM_153700.2(STRC):c.259C>T (p.Gln87Ter) rs1344019160
NM_153700.2(STRC):c.2614C>T (p.Pro872Ser) rs1187842173
NM_153700.2(STRC):c.2914C>T (p.Arg972Trp) rs876658008
NM_153700.2(STRC):c.3128_3138+5del rs1555447538
NM_153700.2(STRC):c.3307-17dup rs727503445
NM_153700.2(STRC):c.3401T>G (p.Leu1134Arg) rs1555447461
NM_153700.2(STRC):c.3493C>T (p.Gln1165Ter) rs876657726
NM_153700.2(STRC):c.3681+11G>A rs796781098
NM_153700.2(STRC):c.4077G>A (p.Glu1359=) rs1555447174
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4171C>T (p.Arg1391Cys) rs376104748
NM_153700.2(STRC):c.4298G>A (p.Cys1433Tyr) rs202189597
NM_153700.2(STRC):c.4375+1G>A rs766595464
NM_153700.2(STRC):c.4415C>A (p.Pro1472Gln) rs144622511
NM_153700.2(STRC):c.4559C>A (p.Pro1520His) rs1246240978
NM_153700.2(STRC):c.461del (p.Pro154fs) rs1411667337
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_153700.2(STRC):c.4702-3del rs371263304
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) rs727503442
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153700.2(STRC):c.4919T>G (p.Leu1640Arg) rs727503440
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala) rs1336307815
NM_153700.2(STRC):c.5129_5130delinsAG (p.Ser1710Lys) rs1555446762
NM_153700.2(STRC):c.694A>G (p.Lys232Glu) rs876657585
NM_153700.2(STRC):c.877G>A (p.Gly293Ser) rs876658010
NM_153700.2(STRC):c.880G>A (p.Val294Ile) rs727503451
NM_153700.2(STRC):c.911C>T (p.Ala304Val) rs727503448
NM_153700.2(STRC):c.995C>G (p.Ser332Cys) rs1360568237
NM_170606.3(KMT2C):c.2447dup (p.Tyr816Ter) rs150073007
NM_170606.3(KMT2C):c.2963G>T (p.Cys988Phe) rs28522267
NM_170606.3(KMT2C):c.3462del (p.Leu1155_Val1156insTer) rs1588343792
NM_170682.4(P2RX2):c.1015A>T (p.Ile339Phe) rs1555299483
NM_170682.4(P2RX2):c.1257A>C (p.Ser419=) rs876657561
NM_170682.4(P2RX2):c.1325_1335del (p.Ile441_Ser442insTer) rs876657423
NM_170682.4(P2RX2):c.457+9G>A rs200457240
NM_170682.4(P2RX2):c.698A>G (p.Asp233Gly) rs1593676004
NM_170682.4(P2RX2):c.775-8_775-6del rs876657424
NM_170682.4(P2RX2):c.800A>G (p.Asn267Ser) rs1555299075
NM_170682.4(P2RX2):c.910G>A (p.Ala304Thr) rs1555299245
NM_170707.2(LMNA):c.(?_1)_(356_?)del
NM_170707.4(LMNA):c.-12A>T rs1553261811
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) rs397517886
NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu) rs876657649
NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del) rs397517887
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) rs397517888
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1158-3C>T rs727503136
NM_170707.4(LMNA):c.1223A>C (p.Gln408Pro) rs397517891
NM_170707.4(LMNA):c.1242C>T (p.Ser414=) rs184946451
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer) rs267607577
NM_170707.4(LMNA):c.1442A>G (p.Tyr481Cys) rs397517893
NM_170707.4(LMNA):c.1526dup (p.Thr510fs) rs58013325
NM_170707.4(LMNA):c.154C>G (p.Leu52Val) rs397517895
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.4(LMNA):c.1748C>G (p.Ser583Trp) rs59601651
NM_170707.4(LMNA):c.1770C>G (p.Thr590=) rs397517896
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) rs28928900
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.1969-1G>T rs1060499873
NM_170707.4(LMNA):c.198T>C (p.Ser66=) rs397517899
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu) rs727504340
NM_170707.4(LMNA):c.230T>C (p.Ile77Thr) rs876657850
NM_170707.4(LMNA):c.232A>G (p.Lys78Glu) rs876657851
NM_170707.4(LMNA):c.234G>C (p.Lys78Asn) rs727505038
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) rs59270054
NM_170707.4(LMNA):c.261T>C (p.Asp87=) rs397517900
NM_170707.4(LMNA):c.266G>A (p.Arg89His) rs59040894
NM_170707.4(LMNA):c.331G>C (p.Glu111Gln) rs61726475
NM_170707.4(LMNA):c.343_344delinsTT (p.Glu115Leu) rs727503134
NM_170707.4(LMNA):c.346C>T (p.Leu116=) rs876657491
NM_170707.4(LMNA):c.348dup (p.Lys117fs) rs267607646
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr) rs397517903
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.4(LMNA):c.449C>T (p.Thr150Ile) rs869069617
NM_170707.4(LMNA):c.476del (p.Glu159fs) rs876657650
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) rs267607594
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_170707.4(LMNA):c.513+1G>C rs397517904
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer) rs1572358821
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser) rs267607572
NM_170707.4(LMNA):c.643C>G (p.Leu215Val) rs397517905
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr) rs727505357
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.739G>A (p.Glu247Lys) rs727504373
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly) rs121912496
NM_170707.4(LMNA):c.763del (p.Gln255fs) rs397517908
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) rs397517909
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.810+13G>A rs11264444
NM_170707.4(LMNA):c.860C>T (p.Ala287Val) rs397517910
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) rs397517911
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.4(LMNA):c.958del (p.Leu320fs) rs397517915
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_171830.2(KCNMB3):c.753del (p.Val252fs) rs143962239
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872
NM_172058.2(EYA1):c.(?_-66)_(*76_?)del
NM_172058.2(EYA1):c.(?_1598-56)_(*1968_?)del
NM_172095.1(CATSPER2):c.(?_718-34)_(843-857_?)del
NM_172245.4(CSF2RA):c.*49G>T rs28722602
NM_172245.4(CSF2RA):c.774_780+10dup rs377345813
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro) rs397517927
NM_173477.5(USH1G):c.451G>A (p.Ala151Thr) rs1598584337
NM_173477.5(USH1G):c.514C>T (p.Arg172Cys) rs199941325
NM_173477.5(USH1G):c.594C>T (p.His198=) rs727503713
NM_173477.5(USH1G):c.607C>G (p.Gln203Glu) rs727504890
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn) rs544952984
NM_173477.5(USH1G):c.731T>G (p.Leu244Arg) rs200259553
NM_173477.5(USH1G):c.770G>T (p.Arg257Leu) rs111033521
NM_173477.5(USH1G):c.806G>A (p.Arg269Gln) rs753080270
NM_173477.5(USH1G):c.809C>A (p.Ala270Asp) rs755287596
NM_173477.5(USH1G):c.84C>T (p.Pro28=) rs397517929
NM_173477.5(USH1G):c.925C>T (p.Arg309Cys) rs876658113
NM_173489.5(MROH2B):c.2241+8_2241+9insAAATAGAT rs70988830
NM_173591.3(OTOGL):c.(?_2657)_(4690_?)del
NM_173591.3(OTOGL):c.(?_6305)-71_*(79_?)del
NM_173591.3(OTOGL):c.[6220A>G;6221T>C]
NM_173628.4(DNAH17):c.4564G>T (p.Asp1522Tyr) rs62073553
NM_173628.4(DNAH17):c.7422G>C (p.Thr2474=) rs11872051
NM_173630.4(RTTN):c.4303-25_4303-11del rs531741265
NM_173630.4(RTTN):c.4303-26_4303-11del rs531741265
NM_173630.4(RTTN):c.725_727dup (p.Gly242dup) rs58913700
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173812.5(DPY19L2):c.804-14_804-13dup rs371578418
NM_174858.3(AK5):c.1681_1683dup (p.Ile561dup) rs6485
NM_174878.3(CLRN1):c.243T>C (p.Phe81=) rs397517931
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) rs797045112
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.655C>G (p.Gln219Glu) rs778617372
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp) rs2063496235
NM_176787.5(PIGN):c.674+1G>A rs1555694770
NM_177438.3(DICER1):c.4102dup (p.Arg1368fs) rs1890722878
NM_177924.5(ASAH1):c.648+1G>C rs1411267767
NM_177987.3(TUBB8):c.[1033C>T;1039A>G]
NM_178170.3(NEK8):c.47+1del rs786204782
NM_178171.5(GSDMA):c.558+12AC[11] rs58338887
NM_178335.3(CCDC50):c.1157T>C (p.Met386Thr) rs775687066
NM_178335.3(CCDC50):c.1221A>C (p.Arg407Ser) rs727504888
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser) rs138707536
NM_178335.3(CCDC50):c.1303A>C (p.Lys435Gln) rs1553844770
NM_178335.3(CCDC50):c.749A>G (p.Glu250Gly) rs727502916
NM_178335.3(CCDC50):c.914G>C (p.Arg305Thr) rs896068890
NM_178425.4(HDAC9):c.2286C>T (p.Ile762=) rs1060499865
NM_178452.4(DNAAF1):c.(?_-181)_(*77_?)del
NM_178452.6(DNAAF1):c.864-17_864-14del rs141073777
NM_181426.2(CCDC39):c.1363-23dup rs374074877
NM_181458.4(PAX3):c.1166C>G (p.Ser389Ter) rs758136826
NM_181458.4(PAX3):c.1174-3del rs749733628
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181458.4(PAX3):c.378G>A (p.Pro126=) rs553884686
NM_181458.4(PAX3):c.508G>A (p.Ala170Thr) rs1553592728
NM_181458.4(PAX3):c.668G>A (p.Arg223Gln) rs876657717
NM_181458.4(PAX3):c.871C>T (p.Pro291Ser) rs199651907
NM_181458.4(PAX3):c.873dup (p.Gly292fs) rs1553572976
NM_181458.4(PAX3):c.879dup (p.Phe294fs) rs1553572967
NM_181741.4(ORC4):c.763-10_763-9del rs66919703
NM_181741.4(ORC4):c.763-9del rs66919703
NM_181882.3(PRX):c.2289del (p.Asp765fs) rs797045102
NM_182548.4(LHFPL5):c.214G>A (p.Val72Met) rs727503133
NM_182548.4(LHFPL5):c.525C>A (p.Ile175=) rs557741915
NM_182548.4(LHFPL5):c.89dup (p.Thr31fs) rs756030149
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182895.5(SCARF2):c.2234dup (p.Arg746fs) rs5844422
NM_182895.5(SCARF2):c.2240dup (p.Gly749fs) rs5844420
NM_182895.5(SCARF2):c.2292dup (p.Glu765fs) rs5844418
NM_182919.4(TICAM1):c.1078CCT[9] (p.Pro367dup) rs11466722
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.2097+3_2097+15del rs1593220945
NM_182961.4(SYNE1):c.3855C>T (p.Ile1285=) rs1592776784
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183387.3(EML5):c.5203-25dup rs35953031
NM_194248.3(OTOF):c.*10CCT[1] rs779197916
NM_194248.3(OTOF):c.1024G>C (p.Gly342Arg) rs1572444852
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1205+3G>A rs727503360
NM_194248.3(OTOF):c.1365C>T (p.Tyr455=) rs572162678
NM_194248.3(OTOF):c.1413G>A (p.Lys471=) rs769723512
NM_194248.3(OTOF):c.1446C>T (p.Val482=) rs749138873
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp) rs745520384
NM_194248.3(OTOF):c.1803+11A>G rs372583354
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.2037C>T (p.Ala679=) rs397517937
NM_194248.3(OTOF):c.2074C>A (p.Arg692=) rs765368301
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2215-16C>T rs752279476
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2287G>T (p.Val763Phe) rs138545671
NM_194248.3(OTOF):c.2316-4C>A rs727503358
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.235G>A (p.Gly79Arg) rs727504911
NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs) rs111033370
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.2523G>T (p.Glu841Asp) rs1553352609
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2818C>T (p.Gln940Ter) rs727504936
NM_194248.3(OTOF):c.2896A>G (p.Met966Val) rs921891243
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.2991+2T>G rs370132645
NM_194248.3(OTOF):c.3178del (p.Ala1060fs) rs727504639
NM_194248.3(OTOF):c.327+3G>C rs876657935
NM_194248.3(OTOF):c.3288+8T>C rs876657549
NM_194248.3(OTOF):c.3303G>A (p.Gly1101=) rs727505304
NM_194248.3(OTOF):c.3363C>T (p.Pro1121=) rs745957247
NM_194248.3(OTOF):c.3488C>T (p.Ala1163Val) rs755175941
NM_194248.3(OTOF):c.3507G>A (p.Ser1169=) rs111033513
NM_194248.3(OTOF):c.3628C>A (p.Arg1210=) rs397517945
NM_194248.3(OTOF):c.3866C>T (p.Thr1289Ile) rs727504839
NM_194248.3(OTOF):c.3870T>C (p.Ser1290=) rs777658929
NM_194248.3(OTOF):c.3893T>C (p.Val1298Ala) rs397517946
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup) rs368148603
NM_194248.3(OTOF):c.4228-1G>A rs111033342
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4401C>T (p.Asp1467=) rs138500783
NM_194248.3(OTOF):c.4440G>A (p.Met1480Ile) rs727503354
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr) rs111033425
NM_194248.3(OTOF):c.4878C>T (p.Asp1626=) rs397517947
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.4995G>C (p.Leu1665=) rs111033371
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.514G>A (p.Gly172Arg) rs397517949
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5203del (p.Arg1735fs) rs727503352
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5575_5576del (p.Lys1859fs) rs111033446
NM_194248.3(OTOF):c.5695G>A (p.Asp1899Asn) rs137986959
NM_194248.3(OTOF):c.571C>T (p.Pro191Ser) rs775692695
NM_194248.3(OTOF):c.5817G>T (p.Arg1939=) rs397517950
NM_194248.3(OTOF):c.5868C>T (p.Tyr1956=) rs727504937
NM_194248.3(OTOF):c.5922G>A (p.Leu1974=) rs111033372
NM_194248.3(OTOF):c.5925del (p.Leu1976fs) rs111033384
NM_194248.3(OTOF):c.780G>A (p.Val260=) rs151306930
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194248.3(OTOF):c.839del (p.Gly280fs) rs1665944825
NM_194248.3(OTOF):c.898-6C>A rs199687628
NM_194248.3(OTOF):c.97C>A (p.Arg33=) rs150867836
NM_194248.3(OTOF):c.986G>A (p.Arg329His) rs764248648
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359
NM_194323.3(OTOF):c.3631A>G (p.Met1211Val) rs1482726409
NM_198129.4(LAMA3):c.8576+7G>C rs1258107
NM_198159.2(MITF):c.(?_355)-1203_*(78_?)del
NM_198159.2(MITF):c.(?_938)-102_*(78_?)del
NM_198239.2(CCN6):c.740_741del (p.Cys247fs) rs727503755
NM_198253.2(TERT):c.(?_1574)_(1769_?)del
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1590G>C (p.Pro530=) rs1396912668
NM_198253.3(TERT):c.1793T>C (p.Leu598Pro) rs1579577379
NM_198253.3(TERT):c.2575C>T (p.Arg859Trp) rs876658018
NM_198253.3(TERT):c.2658C>A (p.Thr886=) rs371744235
NM_198253.3(TERT):c.2708C>T (p.Thr903Ile) rs727505125
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs) rs1570190059
NM_198682.3(GYPE):c.38G>C (p.Gly13Ala) rs1132785
NM_198999.3(SLC26A5):c.1311+3G>T rs397517962
NM_198999.3(SLC26A5):c.1457A>G (p.Tyr486Cys) rs727503433
NM_198999.3(SLC26A5):c.1514+1G>A rs727504481
NM_198999.3(SLC26A5):c.89A>G (p.Glu30Gly) rs727504456
NM_199242.3(UNC13D):c.2340C>G (p.Gly780=) rs556654678
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.8948C>T (p.Ala2983Val) rs1017632168
NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter) rs786204777
NM_201596.3(CACNB2):c.1534del (p.Ser512fs) rs767341738
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) rs372858877
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.404+16del rs727505303
NM_203447.4(DOCK8):c.5207C>G (p.Ala1736Gly) rs139990627
NM_203447.4(DOCK8):c.5481T>C (p.His1827=) rs1554708887
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045
NM_205860.3(NR5A2):c.1230+29_1230+30dup rs76894039
NM_206883.2(SLC26A5):c.292+8_292+9dup rs112791865
NM_206933.2(USH2A):c.(?_1645)_(1840_?)del
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?))
NM_206933.2(USH2A):c.(?_7301)_(8223_?)del
NM_206933.2(USH2A):c.(?_785)_(1840_?)del
NM_206933.2(USH2A):c.(?_8682)_(8845_?)del
NM_206933.2(USH2A):c.11048-?_11711+?dup
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.4396+6857_6486-425del
NM_206933.2(USH2A):c.9335_9371+8063del
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.4(USH2A):c.*4A>G rs530405236
NM_206933.4(USH2A):c.-1C>G rs547139318
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.10224A>G (p.Glu3408=) rs1553261931
NM_206933.4(USH2A):c.1027T>G (p.Ser343Ala) rs397517965
NM_206933.4(USH2A):c.10398C>G (p.Leu3466=) rs563370514
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys) rs1553261469
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.10656T>C (p.Ser3552=) rs727503719
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.10740+7G>C rs201206110
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=) rs747834026
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.11048-1G>A rs111033414
NM_206933.4(USH2A):c.11145T>A (p.Tyr3715Ter) rs727504608
NM_206933.4(USH2A):c.11231+1G>T rs111033382
NM_206933.4(USH2A):c.11389+15del rs397517972
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11500T>A (p.Leu3834Met) rs1553257690
NM_206933.4(USH2A):c.11549-5del rs34565443
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu) rs35309576
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) rs727504714
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys) rs397517979
NM_206933.4(USH2A):c.12294+1G>C rs111033526
NM_206933.4(USH2A):c.12462T>C (p.Pro4154=) rs727503717
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu) rs147304271
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu) rs375223901
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.4(USH2A):c.1299T>C (p.Pro433=) rs1571702060
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe) rs397517985
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val) rs763576540
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile) rs111033500
NM_206933.4(USH2A):c.13238C>G (p.Pro4413Arg) rs1553252404
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.13711G>T (p.Glu4571Ter) rs751411512
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13808A>G (p.His4603Arg) rs727504551
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=) rs373694614
NM_206933.4(USH2A):c.13882C>G (p.Pro4628Ala) rs1571945599
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.4(USH2A):c.14254G>A (p.Val4752Met) rs770161970
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14332G>T (p.Ala4778Ser) rs727504637
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.14838G>T (p.Val4946=) rs949583594
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=) rs397517993
NM_206933.4(USH2A):c.15002A>C (p.Glu5001Ala) rs1558033265
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=) rs397518000
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.15501G>A (p.Met5167Ile) rs397518001
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala) rs772955674
NM_206933.4(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln) rs938662688
NM_206933.4(USH2A):c.1934C>T (p.Thr645Ile) rs397518004
NM_206933.4(USH2A):c.2007T>A (p.Ser669=) rs876657625
NM_206933.4(USH2A):c.2228G>T (p.Gly743Val) rs727504638
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2732C>A (p.Thr911Asn) rs397518006
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.2829C>A (p.Gly943=) rs397518007
NM_206933.4(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.4(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.4(USH2A):c.2989G>A (p.Gly997Arg) rs397518009
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg) rs111033377
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3241A>G (p.Asn1081Asp) rs1553315006
NM_206933.4(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.4(USH2A):c.3509C>T (p.Thr1170Ile) rs2034944380
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3584G>C (p.Cys1195Ser) rs727504652
NM_206933.4(USH2A):c.3942A>G (p.Glu1314=) rs876657626
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=) rs727503733
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) rs397518015
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe) rs770790346
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=) rs727503729
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe) rs866592573
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.5001dup (p.Gly1668fs) rs397518018
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5254T>G (p.Leu1752Val) rs727503728
NM_206933.4(USH2A):c.5373G>C (p.Leu1791=) rs876657628
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=) rs1052386893
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter) rs727504893
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6639del (p.Lys2213fs) rs876657732
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.4(USH2A):c.6805+6T>A rs746355792
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.687C>A (p.Gly229=) rs766740504
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.4(USH2A):c.7121-14del rs536181325
NM_206933.4(USH2A):c.7194C>T (p.Leu2398=) rs1269441158
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.4(USH2A):c.7303C>A (p.Pro2435Thr) rs727503720
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.7595-2140G>C rs1665201229
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=) rs577063450
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu) rs774559456
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.8244C>T (p.Leu2748=) rs111033506
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.4(USH2A):c.870T>A (p.Ser290=) rs876657630
NM_206933.4(USH2A):c.8801G>C (p.Ser2934Thr) rs1664489826
NM_206933.4(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.4(USH2A):c.8845+9G>C rs748060796
NM_206933.4(USH2A):c.9159T>G (p.Tyr3053Ter) rs397518042
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9258+3T>C rs1553268427
NM_206933.4(USH2A):c.9278A>T (p.Tyr3093Phe) rs397518045
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=) rs876657631
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9621T>C (p.Cys3207=) rs727505296
NM_206933.4(USH2A):c.9636C>T (p.Ile3212=) rs397518049
NM_206933.4(USH2A):c.9814C>T (p.Pro3272Ser) rs1198810318
NM_206937.2(LIG4):c.879_883del (p.Asn294fs) rs751070095
NM_207034.3(EDN3):c.342C>T (p.Asp114=) rs1272021123
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.504C>T (p.Ala168=) rs1600756985
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs) rs746484929
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) rs752032044
NM_213569.2(NEBL):c.250-10T>G rs727503339
NM_213569.2(NEBL):c.357+73449dup rs57918610
NM_213569.2(NEBL):c.357+73457del rs57918610
NM_213569.2(NEBL):c.65A>T (p.Asp22Val) rs727503341
NM_213569.2(NEBL):c.70-5dup rs11413698
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NM_213607.3(CCDC103):c.223_226dup (p.His76fs) rs1597843267
NR_178195.1(LFNG):n.265_268GATG[6] rs34637446
Single allele
m.1005T>C rs111033179
m.1007G>A rs111033213
m.1018G>A rs2856982
m.1048C>T rs2000974
m.1095T>C rs267606618
m.1107T>C rs111033323
m.1116A>G rs111033208
m.1119T>C rs397515724
m.1187T>C rs111033320
m.1189T>C rs28358571
m.1193T>C rs111033321
m.1211G>A rs397515725
m.1243T>C rs28358572
m.1310C>T rs111033354
m.1382A>C rs111033358
m.1385C>T rs111033442
m.1391T>C rs111033357
m.1393G>A rs111033325
m.1406T>C rs111033322
m.1420T>C rs111033356
m.1438A>G rs2001030
m.1442G>A rs28358573
m.1462G>A rs111033326
m.1598G>A rs3135027
m.7468C>T rs111033173
m.7471C>T rs397515726
m.7471delC rs111033319
m.7476C>T rs201950015
m.7493C>T rs397515728
m.7498G>A rs111033324
m.951G>A rs200887992
m.956C>T rs397515729
m.958_960dupCCC rs111033185
m.960_961insC rs111033185
m.960delC rs111033185
m.961T>C rs3888511
m.961T>G rs3888511
m.980T>C rs397515731

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