ClinVar Miner

Variants with conflicting interpretations "likely benign" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen and "benign" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1923
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_177438.3(DICER1):c.4206+11del rs58202892 0.21617
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.18604
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472 0.13352
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09422
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_003919.3(SGCE):c.1253+812G>A rs559235992 0.03668
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515 0.03405
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02137
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_006440.5(TXNRD2):c.374+13C>T rs9606178 0.02112
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001267550.2(TTN):c.37040-13A>G rs760603937 0.02053
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
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_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001927.4(DES):c.-30_-18dup rs794728983 0.01968
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600 0.01938
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
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_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 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_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=) rs535294541 0.01666
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_003194.5(TBP):c.231_243del (p.Gln77fs) rs771725566 0.01524
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01500
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
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_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
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_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 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_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser) rs201474544 0.01309
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
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_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_003119.4(SPG7):c.9G>T (p.Val3=) rs553241838 0.01255
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
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_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01186
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
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_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
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_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
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_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_177438.3(DICER1):c.4206+9del rs368080354 0.01007
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_014314.4(RIGI):c.212G>A (p.Arg71His) rs72710678 0.00981
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu) rs2498170 0.00954
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_020297.4(ABCC9):c.*19T>C rs114906131 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_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
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_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
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_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_004085.4(TIMM8A):c.-6C>T rs180806413 0.00726
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 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_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_000320.3(QDPR):c.105+17G>A rs149373480 0.00682
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00682
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081 0.00676
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00674
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_001378615.1(CC2D2A):c.541-20T>G rs114335547 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_001082971.2(DDC):c.436-12T>C rs144962948 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_020529.3(NFKBIA):c.548-3C>T rs2233418 0.00648
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 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_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_033305.3(VPS13A):c.6379-17T>G rs373072093 0.00604
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_031418.4(ANO3):c.1968C>T (p.Ile656=) rs149050831 0.00597
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850 0.00580
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=) rs79439293 0.00558
NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn) rs116988549 0.00557
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378 0.00547
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00542
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00538
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00534
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_001131016.2(CIZ1):c.1170G>T (p.Gln390His) rs61740197 0.00532
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=) rs143287927 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716 0.00524
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn) rs61737182 0.00515
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00513
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_020297.4(ABCC9):c.2644-19G>A rs73254534 0.00507
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_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_002578.5(PAK3):c.276+2659T>C rs142890115 0.00491
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_133379.5(TTN):c.13455T>C (p.Pro4485=) rs146470872 0.00477
NM_002204.4(ITGA3):c.929C>T (p.Ala310Val) rs61730088 0.00476
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_133459.4(CCBE1):c.195G>A (p.Glu65=) rs116673304 0.00475
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
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_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp) rs61734561 0.00451
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_058004.4(PI4KA):c.5235G>A (p.Ser1745=) rs143539146 0.00439
NM_000317.3(PTS):c.315-3T>C rs189365250 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_022089.4(ATP13A2):c.*120A>T rs41273151 0.00422
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554 0.00421
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_012213.3(MLYCD):c.799-16C>T rs150789545 0.00413
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val) rs118056333 0.00410
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00406
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996 0.00396
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
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_024334.3(TMEM43):c.162+21C>T rs137975239 0.00388
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 0.00388
NM_004168.4(SDHA):c.456+20G>C rs193283468 0.00385
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761 0.00376
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu) rs149910292 0.00372
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00369
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_001383.6(DPH1):c.731C>G (p.Pro244Arg) rs80150196 0.00361
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
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_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_000421.5(KRT10):c.135A>G (p.Gly45=) rs150048434 0.00336
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_004360.5(CDH1):c.833-16C>G rs33984587 0.00332
NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile) rs73000144 0.00328
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290 0.00319
NM_006121.4(KRT1):c.592-8G>A rs147622831 0.00319
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_000051.4(ATM):c.5918+72A>G rs3218694 0.00314
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001267550.2(TTN):c.31847-17A>G rs72650025 0.00313
NM_001264.5(CDSN):c.1302C>A (p.Ser434Arg) rs150846158 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_020831.6(MRTFA):c.1332G>A (p.Pro444=) rs148478967 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_015215.4(CAMTA1):c.2090C>T (p.Ala697Val) rs111266786 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_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) rs146449593 0.00303
NM_000718.4(CACNA1B):c.4848C>T (p.Ile1616=) rs77664166 0.00301
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044 0.00301
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001003841.3(SLC6A19):c.984C>T (p.Arg328=) rs140296083 0.00292
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00289
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_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_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
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_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001385012.1(NBEA):c.8413G>T (p.Val2805Phe) rs41292207 0.00283
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_001626.6(AKT2):c.93C>T (p.Ser31=) rs35588791 0.00270
NM_003047.5(SLC9A1):c.1356C>T (p.Ile452=) rs35607809 0.00270
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736 0.00270
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00269
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_033026.6(PCLO):c.14871C>T (p.Ser4957=) rs117776963 0.00265
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00262
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
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_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_005157.6(ABL1):c.740A>G (p.Lys247Arg) rs34549764 0.00257
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_001141919.2(XG):c.455-3C>T rs202025841 0.00256
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
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_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001903.5(CTNNA1):c.1748-16G>C rs187293176 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_138711.6(PPARG):c.1362C>T (p.Ile454=) rs149367249 0.00250
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) rs147755372 0.00249
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser) rs146741810 0.00249
NM_170606.3(KMT2C):c.5587C>G (p.Pro1863Ala) rs142070663 0.00249
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_000718.4(CACNA1B):c.4473+17G>A rs80100052 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln) rs34916193 0.00245
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_006432.5(NPC2):c.*9T>C rs80216539 0.00243
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_005138.3(SCO2):c.201C>T (p.Phe67=) rs61748568 0.00240
NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His) rs143682596 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_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_001035.3(RYR2):c.2204-16G>T rs368648602 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_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_001385012.1(NBEA):c.282G>A (p.Thr94=) rs201561325 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_002972.4(SBF1):c.3904+5C>G rs115032856 0.00233
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_001080467.3(MYO5B):c.1057-4A>G rs138582195 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00228
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00226
NM_001903.5(CTNNA1):c.2013G>A (p.Ala671=) rs28363488 0.00226
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285 0.00224
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_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_001003841.3(SLC6A19):c.775-5C>T rs149379208 0.00222
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_004281.4(BAG3):c.-17G>A rs200388926 0.00218
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000718.4(CACNA1B):c.4959G>A (p.Thr1653=) rs150165282 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001267550.2(TTN):c.1398+18A>G rs72647849 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_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) rs200513156 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00213
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00206
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=) rs61735044 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_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266 0.00205
NM_004357.5(CD151):c.84+13C>T rs201750899 0.00204
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_138927.4(SON):c.3326C>T (p.Ala1109Val) rs144188863 0.00203
NM_016360.4(TACO1):c.498T>C (p.His166=) rs17549732 0.00202
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001903.5(CTNNA1):c.589-5T>C rs186236339 0.00200
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_004168.4(SDHA):c.1551+16C>T rs184954254 0.00198
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00195
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys) rs199809018 0.00195
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_000320.3(QDPR):c.630-17T>C rs201581320 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 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_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00185
NM_000146.4(FTL):c.522C>T (p.His174=) rs73046709 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273 0.00182
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00180
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_002539.3(ODC1):c.250G>A (p.Gly84Arg) rs138359527 0.00180
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_000256.3(MYBPC3):c.2905+35A>G rs11570107 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_015488.5(PNKD):c.236+1180G>A rs148049021 0.00172
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser) rs114204766 0.00168
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln) rs140460765 0.00168
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000384.3(APOB):c.3279C>G (p.Thr1093=) rs72653075 0.00163
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107 0.00163
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00163
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) rs35489395 0.00162
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485 0.00158
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu) rs201092215 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001126128.2(PROK2):c.84C>G (p.Ala28=) rs372623686 0.00156
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) rs200815663 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_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_001303052.2(MYT1L):c.2532G>A (p.Leu844=) rs191820268 0.00148
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
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_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 0.00144
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_015967.8(PTPN22):c.197-4A>G rs72650669 0.00141
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00141
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup) rs564202766 0.00140
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=) rs146382764 0.00139
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg) rs147259983 0.00139
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) rs150248985 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
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_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_138927.4(SON):c.1664C>T (p.Thr555Met) rs13049658 0.00135
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_006514.4(SCN10A):c.4568G>A (p.Cys1523Tyr) rs142217269 0.00134
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 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_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly) rs183950862 0.00132
NM_001447.3(FAT2):c.3399C>A (p.Asn1133Lys) rs138913417 0.00132
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=) rs186888528 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser) rs140913916 0.00130
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00129
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001267550.2(TTN):c.36285C>T (p.His12095=) rs201184203 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_001199107.2(TBC1D24):c.-7C>T rs199852092 0.00126
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) rs201797790 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_001267550.2(TTN):c.1398+16C>T rs144043280 0.00124
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_018105.3(THAP1):c.71+9C>A rs200209986 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=) rs139500905 0.00121
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00120
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_004415.4(DSP):c.939+17C>T rs140481492 0.00118
NM_145046.5(CALR3):c.398-6T>C rs376479901 0.00118
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571 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_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171 0.00117
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met) rs149333409 0.00117
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp) rs199972068 0.00117
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 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_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 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_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_020297.4(ABCC9):c.798T>C (p.Asp266=) rs138356189 0.00113
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
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.89994G>A (p.Ser29998=) rs142891278 0.00111
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.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
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_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_000384.3(APOB):c.2068-4T>A rs41291161 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_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_015559.3(SETBP1):c.3299A>G (p.His1100Arg) rs149162154 0.00107
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 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.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
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.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 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.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058 0.00101
NM_001482.3(GATM):c.69+13C>T rs573273215 0.00101
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_013266.4(CTNNA3):c.844-15G>A rs201089736 0.00098
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.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 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_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr) rs61742247 0.00093
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 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_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser) rs150996735 0.00088
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_006267.5(RANBP2):c.8599+16G>A rs145152325 0.00087
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908 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.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636 0.00086
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_000548.5(TSC2):c.2838-4A>G rs45517272 0.00084
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
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_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_001267550.2(TTN):c.36701-16A>G rs577899845 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_005502.4(ABCA1):c.720+6T>C rs188308962 0.00081
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) rs200964353 0.00080
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 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_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 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_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_003280.3(TNNC1):c.201C>T (p.Asp67=) rs150881554 0.00074
NM_020774.4(MIB1):c.-17C>T rs561980800 0.00074
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 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_001267550.2(TTN):c.1246-16G>A rs72647847 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_024306.5(FA2H):c.537G>A (p.Leu179=) rs75711361 0.00068
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val) rs199838024 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=) rs201338158 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=) rs150885220 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.9703+17T>A rs377693857 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn) rs191798831 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_003319.4(TTN):c.19502-5A>G rs182706301 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004606.5(TAF1):c.2688G>A (p.Glu896=) rs148921433 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_002016.2(FLG):c.8166G>A (p.Glu2722=) rs368624506 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_013266.4(CTNNA3):c.1929C>T (p.His643=) rs147760277 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001374353.1(GLI2):c.148+5T>C rs201273354 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000548.5(TSC2):c.975+13C>T rs200564575 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_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
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_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 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_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_004281.4(BAG3):c.855G>A (p.Thr285=) rs147259596 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 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_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=) rs200573256 0.00046
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=) rs186498011 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) rs374094732 0.00045
NM_002471.4(MYH6):c.531-19T>A rs374174532 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_144573.4(NEXN):c.732C>A (p.Pro244=) rs201171783 0.00045
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00045
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_001267550.2(TTN):c.44014+19G>C rs139264089 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys) rs144896730 0.00043
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 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.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_133379.5(TTN):c.14616C>T (p.Ser4872=) rs148105798 0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_000384.3(APOB):c.7152T>C (p.Val2384=) rs72653090 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_000548.5(TSC2):c.138+20C>G rs45517092 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 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_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 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_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_152869.4(RGN):c.453C>G (p.Asp151Glu) rs138747840 0.00040
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) rs201922441 0.00040
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_020778.5(ALPK3):c.2223C>T (p.Leu741=) rs138935453 0.00039
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=) rs370750044 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_031418.4(ANO3):c.1915C>T (p.Leu639=) rs149866447 0.00038
NM_002458.3(MUC5B):c.10853G>A (p.Arg3618His) rs201155330 0.00037
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_020778.5(ALPK3):c.2262A>G (p.Glu754=) rs143456491 0.00037
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.3163-18T>C rs72468662 0.00036
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys) rs149482288 0.00035
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=) rs375408527 0.00035
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=) rs137899908 0.00035
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00035
NM_020778.5(ALPK3):c.4056C>T (p.His1352=) rs144613098 0.00035
NM_173495.3(PTCHD1):c.1012+5T>C rs201933353 0.00035
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg) rs371580084 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) rs140932636 0.00034
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_022114.4(PRDM16):c.1632C>T (p.Asp544=) rs199499877 0.00034
NM_172107.4(KCNQ2):c.297-18C>T rs370109710 0.00034
NM_000836.4(GRIN2D):c.3628C>T (p.Pro1210Ser) rs773824115 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_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00033
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00031
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=) rs150450178 0.00031
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_001267550.2(TTN):c.24506-16T>C rs200319727 0.00030
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 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_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_005477.3(HCN4):c.1656C>T (p.His552=) rs148142070 0.00029
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295 0.00029
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 0.00029
NM_001035.3(RYR2):c.14809-20C>T rs141119268 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_004281.4(BAG3):c.771C>T (p.Pro257=) rs200212999 0.00028
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001267550.2(TTN):c.30433+15A>T rs371872220 0.00027
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863 0.00026
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) rs148434577 0.00025
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.35875+8T>G rs192408585 0.00024
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_004006.3(DMD):c.7310-7A>G rs373230021 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_020433.5(JPH2):c.379+12T>G rs763058686 0.00023
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) rs200088686 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_000384.3(APOB):c.7863A>C (p.Leu2621=) rs138497378 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) rs192857526 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) rs372158844 0.00022
NM_001035.3(RYR2):c.1005+13A>G rs552027921 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_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) rs192640017 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_133379.5(TTN):c.16020T>C (p.His5340=) rs200378944 0.00021
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_000257.4(MYH7):c.5412C>G (p.Ala1804=) rs147433856 0.00019
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_001005273.3(CHD3):c.4826G>A (p.Arg1609Gln) rs759598225 0.00019
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997 0.00019
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) rs148210834 0.00019
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_002471.4(MYH6):c.2841C>T (p.Asp947=) rs140305424 0.00019
NM_003673.4(TCAP):c.111-16C>G rs199865814 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_013266.4(CTNNA3):c.18A>T (p.Pro6=) rs138580439 0.00018
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_004281.4(BAG3):c.96G>T (p.Pro32=) rs372083121 0.00017
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000256.3(MYBPC3):c.506-17C>T rs561595897 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=) rs369993514 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 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_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00016
NM_144573.4(NEXN):c.865-17A>G rs201771600 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000834.5(GRIN2B):c.2481G>A (p.Ala827=) rs189384622 0.00015
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg) rs368739905 0.00015
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_022114.4(PRDM16):c.2748G>A (p.Ala916=) rs370768364 0.00015
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168 0.00015
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00014
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001134363.3(RBM20):c.3573+16C>T rs772863559 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00014
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) rs190058852 0.00014
NM_007078.3(LDB3):c.897-14T>C rs763081924 0.00014
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.5742G>A (p.Ala1914=) rs368719553 0.00013
NM_001267550.2(TTN):c.71883T>C (p.Val23961=) rs368692510 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_022114.4(PRDM16):c.1668G>A (p.Leu556=) rs372910329 0.00013
NM_133379.5(TTN):c.15768T>A (p.His5256Gln) rs138826545 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000465.4(BARD1):c.1152C>T (p.Ser384=) rs368291318 0.00012
NM_001035.3(RYR2):c.7824+20G>A rs373240466 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00012
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00012
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000257.4(MYH7):c.345C>T (p.Tyr115=) rs149439730 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=) rs373769240 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_002230.4(JUP):c.1159-20G>A rs782463183 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_002471.4(MYH6):c.1599C>T (p.Ser533=) rs371263768 0.00011
NM_013266.4(CTNNA3):c.1732+8A>G rs372686443 0.00011
NM_016529.6(ATP8A2):c.1560C>T (p.Ile520=) rs558462263 0.00011
NM_024334.3(TMEM43):c.429G>A (p.Thr143=) rs201217046 0.00011
NM_145046.5(CALR3):c.378G>A (p.Ser126=) rs374869347 0.00011
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_003235.5(TG):c.7569G>A (p.Val2523=) rs771682922 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_014391.3(ANKRD1):c.750+17G>A rs373898620 0.00010
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_001048174.2(MUTYH):c.606+14C>G rs752537118 0.00009
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=) rs375120372 0.00009
NM_001267550.2(TTN):c.1245+20G>T rs371234481 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001267550.2(TTN):c.33742+8C>T rs375939001 0.00008
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212 0.00008
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 0.00008
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_025132.4(WDR19):c.2454C>T (p.Ala818=) rs748535483 0.00008
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=) rs368734580 0.00007
NM_000335.5(SCN5A):c.1842A>G (p.Pro614=) rs766696979 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001110556.2(FLNA):c.2023-4C>G rs368719012 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001267550.2(TTN):c.32070C>T (p.Val10690=) rs757316831 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_015338.6(ASXL1):c.1907C>T (p.Ala636Val) rs370230857 0.00007
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_001035.3(RYR2):c.14808+17A>C rs368520821 0.00006
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) rs368207198 0.00006
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528 0.00006
NM_001105206.3(LAMA4):c.1020C>T (p.Asn340=) rs147822567 0.00006
NM_001105206.3(LAMA4):c.4287+16G>A rs140156070 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001267550.2(TTN):c.12543C>T (p.Thr4181=) rs764856949 0.00006
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys) rs561557554 0.00006
NM_001267550.2(TTN):c.20837-12G>A rs534822724 0.00006
NM_001267550.2(TTN):c.20837-19A>G rs554860016 0.00006
NM_001267550.2(TTN):c.23382T>A (p.Pro7794=) rs768874223 0.00006
NM_001267550.2(TTN):c.31270+12G>T rs564264476 0.00006
NM_001267550.2(TTN):c.33173-4G>A rs727504440 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=) rs368268066 0.00006
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=) rs529676901 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007217.4(PDCD10):c.104G>A (p.Arg35Gln) rs201796692 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=) rs200664031 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_001035.3(RYR2):c.12189G>A (p.Thr4063=) rs368948386 0.00005
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=) rs201218861 0.00005
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) rs782058486 0.00005
NM_001267550.2(TTN):c.49704A>G (p.Val16568=) rs565691537 0.00005
NM_002471.4(MYH6):c.5427A>C (p.Gly1809=) rs149294569 0.00005
NM_005477.3(HCN4):c.1254C>T (p.Ile418=) rs373794941 0.00005
NM_007294.4(BRCA1):c.670+16G>A rs199916228 0.00005
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=) rs374476363 0.00005
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=) rs371842442 0.00004
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=) rs375989197 0.00004
NM_000432.4(MYL2):c.353+16G>A rs572363699 0.00004
NM_000455.5(STK11):c.1200G>A (p.Leu400=) rs368661707 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00004
NM_001267550.2(TTN):c.100766-9dup rs202238743 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=) rs372654116 0.00004
NM_001267550.2(TTN):c.30538+6T>G rs1363737815 0.00004
NM_001267550.2(TTN):c.39128-12T>A rs779588688 0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859 0.00004
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=) rs397517604 0.00004
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00004
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=) rs200999706 0.00004
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_001943.5(DSG2):c.273A>G (p.Gly91=) rs376944801 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002471.4(MYH6):c.5334C>T (p.Ser1778=) rs556492704 0.00004
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_014000.3(VCL):c.1177-14G>A rs778137720 0.00004
NM_014000.3(VCL):c.2265T>C (p.Ser755=) rs147887754 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.531C>T (p.Thr177=) rs200035152 0.00003
NM_001018005.2(TPM1):c.241-8C>T rs765893032 0.00003
NM_001267550.2(TTN):c.33172+14A>G rs752797605 0.00003
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=) rs750270873 0.00003
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=) rs1455525236 0.00003
NM_001267550.2(TTN):c.46697-19_46697-18del rs530484268 0.00003
NM_001267550.2(TTN):c.50355-15T>C rs757425897 0.00003
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=) rs141431591 0.00003
NM_001972.4(ELANE):c.201G>T (p.Ser67=) rs200254961 0.00003
NM_002529.4(NTRK1):c.117C>T (p.Ala39=) rs746293720 0.00003
NM_004281.4(BAG3):c.483G>A (p.Gln161=) rs758279156 0.00003
NM_004415.4(DSP):c.1904-17C>G rs370715047 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_022114.4(PRDM16):c.2259C>T (p.Ala753=) rs548246861 0.00003
NM_133379.5(TTN):c.11928G>A (p.Thr3976=) rs548317101 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=) rs547477069 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000335.5(SCN5A):c.1308G>A (p.Glu436=) rs555224775 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_001035.3(RYR2):c.12111C>T (p.Pro4037=) rs770463326 0.00002
NM_001159699.2(FHL1):c.737-12_737-8del rs761074507 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=) rs760724229 0.00002
NM_001267550.2(TTN):c.44472T>C (p.Asp14824=) rs377441854 0.00002
NM_001267550.2(TTN):c.48312+3G>T rs368650224 0.00002
NM_001267550.2(TTN):c.57369C>T (p.Thr19123=) rs199742163 0.00002
NM_001267550.2(TTN):c.57405A>G (p.Gln19135=) rs773605848 0.00002
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869 0.00002
NM_001267550.2(TTN):c.7331-11T>C rs1198109375 0.00002
NM_001267550.2(TTN):c.7383G>A (p.Lys2461=) rs752865519 0.00002
NM_001267550.2(TTN):c.92152+7T>G rs574211300 0.00002
NM_001267550.2(TTN):c.95877G>A (p.Val31959=) rs373041862 0.00002
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=) rs143500486 0.00002
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=) rs773954315 0.00002
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 0.00002
NM_002471.4(MYH6):c.1086C>T (p.Asn362=) rs375189593 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_005477.3(HCN4):c.1053C>T (p.Pro351=) rs773287506 0.00002
NM_013266.4(CTNNA3):c.1248G>A (p.Ala416=) rs1046657762 0.00002
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn) rs376694047 0.00002
NM_022114.4(PRDM16):c.801G>A (p.Glu267=) rs369972213 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_032578.4(MYPN):c.3711G>A (p.Lys1237=) rs773992843 0.00002
NM_133379.5(TTN):c.13290T>C (p.Ser4430=) rs571273316 0.00002
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.797-17T>C rs532401716 0.00001
NM_000257.4(MYH7):c.896-17C>T rs569428750 0.00001
NM_000335.5(SCN5A):c.1050C>T (p.His350=) rs587781160 0.00001
NM_000335.5(SCN5A):c.1716C>T (p.Ala572=) rs796636336 0.00001
NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=) rs1438433663 0.00001
NM_001005242.3(PKP2):c.1034+10C>T rs759397762 0.00001
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=) rs587781109 0.00001
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=) rs1413571023 0.00001
NM_001267550.2(TTN):c.1089G>A (p.Thr363=) rs528675109 0.00001
NM_001267550.2(TTN):c.1920G>A (p.Val640=) rs1361872004 0.00001
NM_001267550.2(TTN):c.21570T>G (p.Thr7190=) rs889991615 0.00001
NM_001267550.2(TTN):c.2229C>T (p.Ala743=) rs746990488 0.00001
NM_001267550.2(TTN):c.22629G>A (p.Pro7543=) rs776917811 0.00001
NM_001267550.2(TTN):c.23469A>G (p.Pro7823=) rs551736293 0.00001
NM_001267550.2(TTN):c.26247T>C (p.Val8749=) rs765248456 0.00001
NM_001267550.2(TTN):c.27312A>G (p.Thr9104=) rs192433938 0.00001
NM_001267550.2(TTN):c.28353C>T (p.Ser9451=) rs777096848 0.00001
NM_001267550.2(TTN):c.30539-19A>G rs1343835676 0.00001
NM_001267550.2(TTN):c.42750G>A (p.Leu14250=) rs1273953637 0.00001
NM_001267550.2(TTN):c.5106A>G (p.Lys1702=) rs1223225845 0.00001
NM_001267550.2(TTN):c.53581+19T>C rs764528095 0.00001
NM_001267550.2(TTN):c.58299T>G (p.Thr19433=) rs778334134 0.00001
NM_001267550.2(TTN):c.63516G>A (p.Pro21172=) rs372493799 0.00001
NM_001267550.2(TTN):c.68421A>C (p.Gly22807=) rs565644396 0.00001
NM_001267550.2(TTN):c.69630C>T (p.Tyr23210=) rs777602537 0.00001
NM_001267550.2(TTN):c.70854A>G (p.Glu23618=) rs768115158 0.00001
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His) rs398124455 0.00001
NM_001267550.2(TTN):c.73782C>T (p.Leu24594=) rs187307196 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047 0.00001
NM_002471.4(MYH6):c.3909G>C (p.Leu1303=) rs572682388 0.00001
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_004360.5(CDH1):c.27G>A (p.Ser9=) rs786201257 0.00001
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00001
NM_014000.3(VCL):c.3154-6C>T rs371257509 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=) rs188837127 0.00001
NM_022114.4(PRDM16):c.3288G>A (p.Ala1096=) rs754951901 0.00001
NM_032578.4(MYPN):c.3075+20C>T rs377273417 0.00001
NM_033337.3(CAV3):c.165C>T (p.Asp55=) rs759446749 0.00001
NM_133379.5(TTN):c.14055A>G (p.Arg4685=) rs1466986172 0.00001
NM_144573.4(NEXN):c.66T>C (p.Tyr22=) rs749182975 0.00001
NM_000038.6(APC):c.423-17dup rs35031194
NM_000038.6(APC):c.423-4del rs730881230
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000194.3(HPRT1):c.319-7dup rs371480320
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) rs149659118
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA rs535965616
NM_000256.3(MYBPC3):c.1311G>C (p.Val437=) rs1060504240
NM_000257.4(MYH7):c.2358G>T (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.4954-5C>T rs962469283
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.2787+19AC[12] rs41311517
NM_000335.5(SCN5A):c.2787+19AC[13] rs41311517
NM_000335.5(SCN5A):c.327C>T (p.Asn109=) rs199473056
NM_000335.5(SCN5A):c.3468C>T (p.Leu1156=) rs570719978
NM_000335.5(SCN5A):c.4071G>A (p.Gly1357=) rs780532060
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup) rs754552080
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001035.3(RYR2):c.1293-14A>G rs752527636
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001042492.3(NF1):c.4332+22_4332+25del rs768273651
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001134363.3(RBM20):c.146_147del (p.Gln49fs) rs2134793110
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001159699.2(FHL1):c.204+14C>G rs2148372078
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001166108.2(PALLD):c.1965-12764G>C rs863224384
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001267550.2(TTN):c.103365C>T (p.Arg34455=) rs398124462
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.14092+20del rs560021681
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.1560A>G (p.Thr520=) rs2154354699
NM_001267550.2(TTN):c.16621+16T>G rs2154310257
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=) rs557350005
NM_001267550.2(TTN):c.18590-3del rs1336631346
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.26762-39TTTGT[10] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.2775+19G>T rs199707799
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) rs150223722
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.55452A>G (p.Lys18484=) rs551509361
NM_001267550.2(TTN):c.57847+19del rs111496283
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001276345.2(TNNT2):c.68-3C>T rs587780970
NM_001276345.2(TNNT2):c.68-5del rs2102295381
NM_001348716.2(KDM6B):c.2253CAC[8] (p.Thr760_Thr762del) rs59627144
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001354712.2(THRB):c.22+4T>A rs1031696535
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037
NM_001374828.1(ARID1B):c.1170CGG[10] (p.Gly401_Gly402dup) rs587779747
NM_001374828.1(ARID1B):c.1211GAG[9] (p.Gly411dup) rs747790383
NM_001374828.1(ARID1B):c.1265_1270dup (p.Val422_Ala423dup) rs759630370
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001378414.1(HDAC4):c.2750+20A>C rs151192501
NM_001386393.1(PANK2):c.1083-13dup rs199905730
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_001643.2(APOA2):c.53-43TG[20] rs17244502
NM_001643.2(APOA2):c.53-43TG[21] rs17244502
NM_001807.6(CEL):c.1834G>C (p.Ala612Pro) rs1322454680
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_002016.2(FLG):c.7956A>C (p.Glu2652Asp) rs192116923
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del) rs150213018
NM_002076.4(GNS):c.253-10del rs201654719
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002471.4(MYH6):c.3343-3del rs1027186100
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3979-11C>G rs200618133
NM_002471.4(MYH6):c.3979-14C>A rs372226248
NM_002471.4(MYH6):c.3979-14C>G rs372226248
NM_002471.4(MYH6):c.3979-7T>C rs535111647
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-8C>G rs555976716
NM_002471.4(MYH6):c.3979-9C>A rs57660219
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=) rs141062252
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del) rs41550117
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002745.5(MAPK1):c.5CGG[7] (p.Ala7dup) rs751880548
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3]) rs751221446
NM_003221.4(TFAP2B):c.540+7ACAA[7] rs368226832
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003737.4(DCHS1):c.76CTG[7] (p.Leu33del) rs72555381
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.3603+3_3603+4dup rs5902031
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004316.4(ASCL1):c.151CAG[9] (p.Gln60_Gln62del) rs3832799
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.2437-11del rs727502998
NM_004415.4(DSP):c.423-9dup rs1554105896
NM_004415.4(DSP):c.81C>A (p.Arg27=) rs773559423
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004525.3(LRP2):c.8699-8C>T rs145301652
NM_004577.4(PSPH):c.194G>A (p.Arg65His) rs200442078
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=) rs143243661
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[22] rs35896485
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006059.4(LAMC3):c.3070-18dup rs34910694
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006284.4(TAF10):c.*2120_*2123=
NM_006393.3(NEBL):c.2519-2del rs754453916
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser) rs192869629
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del) rs111662216
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.896+6694del rs796095449
NM_007078.3(LDB3):c.94-20C>T rs779928559
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_012200.4(B3GAT3):c.909+262del rs35002433
NM_012200.4(B3GAT3):c.909+270_909+271del rs549953964
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup) rs71929101
NM_013266.4(CTNNA3):c.1836G>A (p.Lys612=) rs774209973
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=) rs150652124
NM_014000.3(VCL):c.1294C>T (p.Leu432=) rs144146254
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del) rs538005366
NM_015726.4(DCAF8):c.297AGAGGA[2] (p.Glu111_Glu112del) rs745776382
NM_016203.4(PRKAG2):c.1106+10dup rs374874465
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
NM_020297.4(ABCC9):c.142+19T>A rs547603072
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) rs56064803
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_022114.4(PRDM16):c.-14C>A rs180925565
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=) rs372189819
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) rs371654192
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup) rs780441372
NM_024675.4(PALB2):c.1684+18TGA[9] rs368593832
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[8] (p.Gln287_Gln291del) rs371983878
NM_032578.4(MYPN):c.3075+5_3075+13del rs864622652
NM_032801.5(JAM3):c.410-14_410-13insCT rs3216140
NM_033028.5(BBS4):c.1482C>A (p.Pro494=) rs2151058298
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_133379.5(TTN):c.10842A>G (p.Glu3614=) rs796091067
NM_133379.5(TTN):c.15313C>A (p.Arg5105=) rs376396183
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_138927.4(SON):c.3688_3741dup (p.Tyr1230_Thr1247dup) rs1569055881
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152468.5(TMC8):c.988-4G>A rs62079073
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu) rs527331900

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