ClinVar Miner

Variants with conflicting interpretations "benign" from Genome Diagnostics Laboratory, University Medical Center Utrecht and "likely benign" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht: Collection method of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1693
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HGVS dbSNP gnomAD frequency
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) rs4975629 0.91839
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43382
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) rs60992377 0.39132
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) rs6233 0.38001
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34271
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_177438.3(DICER1):c.4206+11del rs58202892 0.21617
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17747
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16998
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
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_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser) rs138675433 0.09012
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) rs11643718 0.08381
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06491
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) rs7025814 0.06135
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) rs8386 0.06127
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05313
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05312
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_153704.6(TMEM67):c.406+1361C>T rs73324992 0.04251
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04245
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.04243
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_000381.4(MID1):c.661-6G>T rs868267567 0.03935
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532 0.03835
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001134888.3(RTL1):c.3323G>A (p.Arg1108Gln) rs117476938 0.03770
NM_005297.4(MCHR1):c.100G>A (p.Gly34Arg) rs11914085 0.03721
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_080425.4(GNAS):c.627G>A (p.Lys209=) rs74934823 0.03663
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070 0.03565
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_001927.4(DES):c.736-35C>A rs41272701 0.03434
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_001164508.2(NEB):c.16284+11A>G rs367881797 0.03368
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile) rs8178017 0.03099
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082 0.02979
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_002661.5(PLCG2):c.2054+7G>A rs138158454 0.02918
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02813
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02800
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=) rs2307131 0.02758
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000092.5(COL4A4):c.2165-15T>G rs60344965 0.02703
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02589
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_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02513
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02484
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met) rs61737718 0.02389
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val) rs61731662 0.02356
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser) rs34638481 0.02336
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu) rs2071126 0.02308
NM_001378183.1(PIEZO2):c.4203C>G (p.His1401Gln) rs79261438 0.02303
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu) rs61749697 0.02257
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_133378.4(TTN):c.93062-10T>C rs202214630 0.02222
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) rs35723243 0.02185
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_006440.5(TXNRD2):c.374+13C>T rs9606178 0.02112
NM_000091.5(COL4A3):c.3751+66C>T rs55843236 0.02109
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_145239.3(PRRT2):c.*55C>A rs141436390 0.02027
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_153704.6(TMEM67):c.406+1379G>A rs60659894 0.01971
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr) rs61749223 0.01916
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_173689.7(CRB2):c.2680G>A (p.Gly894Ser) rs144714250 0.01838
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) rs79737301 0.01835
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01833
NM_001130004.2(ACTN1):c.2663C>T (p.Pro888Leu) rs77499007 0.01831
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01794
NM_002303.6(LEPR):c.1285+20G>A rs13306522 0.01792
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile) rs61733388 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001134888.3(RTL1):c.2554G>A (p.Ala852Thr) rs112608318 0.01563
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01500
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) rs61999335 0.01454
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_001164508.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241 0.01414
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191 0.01369
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_000204.5(CFI):c.482+14T>A rs76014294 0.01365
NM_024422.6(DSC2):c.2251-27C>A rs151289743 0.01365
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_022437.3(ABCG8):c.628G>A (p.Val210Met) rs9282574 0.01336
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_004621.6(TRPC6):c.-10C>A rs191383391 0.01276
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser) rs80120912 0.01243
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_000092.5(COL4A4):c.559-21A>G rs56306477 0.01229
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_000092.5(COL4A4):c.3818-45T>A rs55886181 0.01195
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01174
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
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_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
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_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
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_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys) rs41274090 0.01060
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_000548.5(TSC2):c.2546-31G>A rs145738496 0.01027
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_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_177438.3(DICER1):c.4206+9del rs368080354 0.01007
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194 0.00998
NM_182914.3(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691 0.00993
NM_007078.3(LDB3):c.1231+24G>A rs45477098 0.00986
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382 0.00969
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00963
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
NM_001144997.2(ITGA7):c.38C>T (p.Thr13Ile) rs11171663 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00936
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_015158.5(KANK1):c.206C>T (p.Pro69Leu) rs61737969 0.00903
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_201596.3(CACNB2):c.1785C>T (p.His595=) rs61733967 0.00879
NM_001164508.2(NEB):c.10347+6C>T rs141088433 0.00870
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) rs765169217 0.00868
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.00867
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_006757.4(TNNT3):c.367-9T>C rs76471485 0.00859
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) rs79723119 0.00834
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His) rs116784674 0.00826
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216 0.00825
NM_015459.5(ATL3):c.1434A>G (p.Gly478=) rs189119869 0.00825
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00817
NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=) rs36084504 0.00817
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_001148.6(ANK2):c.3379+12T>G rs139528815 0.00812
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001018005.2(TPM1):c.639+22G>C rs28730802 0.00782
NM_003661.4(APOL1):c.792C>A (p.Asn264Lys) rs73885316 0.00777
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_001680.5(FXYD2):c.*6+6C>A rs11827585 0.00767
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_014000.3(VCL):c.2950-22C>G rs71579378 0.00753
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_032588.4(TRIM63):c.135G>C (p.Arg45=) rs61760891 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=) rs112661328 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00721
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00703
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 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_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_024426.6(WT1):c.785-20G>T rs5030168 0.00663
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile) rs4252303 0.00655
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_138295.5(PKD1L1):c.2675+4C>T rs143005953 0.00651
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00650
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 0.00606
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser) rs115892604 0.00605
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_014625.4(NPHS2):c.891G>A (p.Ala297=) rs5005771 0.00589
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
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_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_182961.4(SYNE1):c.4789-13G>A rs142900784 0.00579
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00565
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_000296.4(PKD1):c.11534+3_11534+5dup rs201204878 0.00559
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
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_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_000257.4(MYH7):c.3853+21C>T rs45584435 0.00548
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_000085.5(CLCNKB):c.1297+5G>T rs35351345 0.00544
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00538
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=) rs143287927 0.00531
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_019066.5(MAGEL2):c.2633C>T (p.Pro878Leu) rs2233067 0.00519
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_000722.4(CACNA2D1):c.659-17T>C rs201932919 0.00513
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830 0.00507
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu) rs146866423 0.00481
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs) rs533676902 0.00478
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser) rs142874233 0.00467
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=) rs61735292 0.00454
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val) rs35313240 0.00443
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_032588.4(TRIM63):c.*2G>A rs77965623 0.00441
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654 0.00439
NM_006000.3(TUBA4A):c.909A>G (p.Val303=) rs141922502 0.00438
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964 0.00431
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001174147.2(LMX1B):c.886+28G>A rs150656317 0.00426
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu) rs61758802 0.00418
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431 0.00408
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248 0.00403
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_014270.5(SLC7A9):c.1444C>T (p.Pro482Ser) rs140516386 0.00395
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) rs78915828 0.00390
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_024334.3(TMEM43):c.162+21C>T rs137975239 0.00388
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_002474.3(MYH11):c.2520+17A>G rs185697714 0.00383
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_019055.6(ROBO4):c.546C>T (p.Pro182=) rs143174483 0.00381
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001195553.2(DCX):c.588T>C (p.Arg196=) rs138706968 0.00376
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_138295.5(PKD1L1):c.908G>A (p.Arg303Gln) rs145088541 0.00374
NM_002163.4(IRF8):c.813C>T (p.Phe271=) rs147080359 0.00373
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000566.4(FCGR1A):c.1013T>C (p.Ile338Thr) rs1050208 0.00372
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
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_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571 0.00341
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=) rs144180074 0.00340
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00340
NM_145020.5(CFAP53):c.115A>C (p.Arg39=) rs112087763 0.00337
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578 0.00335
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_182961.4(SYNE1):c.17542-14A>G rs111686341 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu) rs28757008 0.00323
NM_000032.5(ALAS2):c.-15-1790G>A rs189947718 0.00322
NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) rs61989884 0.00322
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 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_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=) rs115972723 0.00315
NM_000726.5(CACNB4):c.599-15G>A rs41270209 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_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 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_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
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_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_001106.4(ACVR2B):c.811-12G>A rs144849143 0.00302
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) rs61757672 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp) rs145067866 0.00297
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_031157.4(HNRNPA1):c.133-17A>G rs74625894 0.00293
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp) rs34409363 0.00292
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_017760.7(NCAPG2):c.1147-7C>T rs144010950 0.00290
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val) rs36002219 0.00289
NM_004715.5(CTDP1):c.2274G>A (p.Pro758=) rs140627086 0.00288
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_001458.5(FLNC):c.7780+10A>G rs201149834 0.00281
NM_006393.3(NEBL):c.1450-9T>G rs45628140 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_018896.5(CACNA1G):c.2907G>A (p.Ala969=) rs60134952 0.00280
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_004211.5(SLC6A5):c.2070C>T (p.Thr690=) rs144357826 0.00278
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_012464.5(TLL1):c.917+9C>T rs189686236 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000059.4(BRCA2):c.67+62T>G rs11571574 0.00274
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_003151.4(STAT4):c.1338C>A (p.Thr446=) rs144421302 0.00274
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_005184.4(CALM3):c.201G>A (p.Pro67=) rs34089805 0.00271
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_018979.4(WNK1):c.5281-4G>A rs72650740 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 0.00267
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00264
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 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_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 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_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 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_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_001290043.2(TAP2):c.1755A>G (p.Ala585=) rs79098150 0.00247
NM_014000.3(VCL):c.2023-20A>G rs143756084 0.00247
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln) rs34916193 0.00245
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00245
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) rs143894795 0.00241
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His) rs143682596 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_002471.4(MYH6):c.1449C>T (p.Asn483=) rs145447555 0.00238
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00235
NM_001569.4(IRAK1):c.361A>C (p.Ile121Leu) rs201911518 0.00235
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_152381.6(XIRP2):c.1052C>T (p.Thr351Ile) rs111563369 0.00230
NM_005186.4(CAPN1):c.1152C>T (p.Cys384=) rs17881532 0.00229
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00228
NM_006135.3(CAPZA1):c.34G>A (p.Glu12Lys) rs149653791 0.00227
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00226
NM_182699.4(DDX53):c.319G>T (p.Ala107Ser) rs148588561 0.00225
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_001166108.2(PALLD):c.2442A>G (p.Thr814=) rs113676921 0.00218
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_001267550.2(TTN):c.1398+18A>G rs72647849 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545 0.00214
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_001458.5(FLNC):c.2889G>A (p.Pro963=) rs191892345 0.00212
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00212
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=) rs140821819 0.00211
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_032588.4(TRIM63):c.597+7G>A rs150672089 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_004357.5(CD151):c.84+13C>T rs201750899 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00203
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_001009944.3(PKD1):c.12664C>T (p.Leu4222=) rs144370969 0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_001308093.3(GATA4):c.99G>T (p.Ala33=) rs56166237 0.00199
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001358921.2(COQ2):c.137C>T (p.Pro46Leu) rs566165293 0.00193
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_014704.4(CEP104):c.1169A>G (p.His390Arg) rs145728798 0.00191
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00187
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00185
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_014391.3(ANKRD1):c.208-15G>A rs116511484 0.00184
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) rs138399473 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_001105206.3(LAMA4):c.2250G>A (p.Gln750=) rs112305543 0.00180
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala) rs79577190 0.00178
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_013266.4(CTNNA3):c.580-8C>T rs141983252 0.00170
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_007078.3(LDB3):c.954C>T (p.Pro318=) rs45603139 0.00168
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799 0.00167
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00161
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) rs139453594 0.00157
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
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_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_207361.6(FREM2):c.7323G>A (p.Ala2441=) rs147563277 0.00155
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) rs200815663 0.00154
NM_002910.6(RENBP):c.29A>G (p.Asp10Gly) rs138548063 0.00154
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_001077415.3(CRELD1):c.1249A>G (p.Ile417Val) rs115361983 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002471.4(MYH6):c.3979-15C>A rs529249069 0.00146
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=) rs61757665 0.00146
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00141
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val) rs139917246 0.00140
NM_020297.4(ABCC9):c.924T>C (p.Asp308=) rs139127928 0.00140
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491 0.00135
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00134
NM_012134.3(LMOD1):c.139G>T (p.Val47Leu) rs200871425 0.00134
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_012448.4(STAT5B):c.376-15C>G rs201981865 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_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00126
NM_000059.4(BRCA2):c.632-69T>C rs61948377 0.00125
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) rs201797790 0.00125
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val) rs55868891 0.00125
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927 0.00125
NM_021141.4(XRCC5):c.1020C>T (p.Phe340=) rs61762971 0.00125
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val) rs144590217 0.00123
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr) rs138546433 0.00122
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=) rs34716166 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065 0.00116
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_000285.4(PEPD):c.967+20G>C rs376640051 0.00114
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00113
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=) rs139770404 0.00113
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000379.4(XDH):c.822G>A (p.Leu274=) rs113345553 0.00108
NM_001009944.3(PKD1):c.9924-11C>T rs201154266 0.00108
NM_001458.5(FLNC):c.5766G>A (p.Ala1922=) rs58914363 0.00108
NM_002471.4(MYH6):c.2430-14C>T rs190342289 0.00108
NM_006267.5(RANBP2):c.783-6T>C rs138540027 0.00108
NM_006267.5(RANBP2):c.9369+4G>A rs139387463 0.00108
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_000054.7(AVPR2):c.1017G>A (p.Leu339=) rs149557877 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_000216.4(ANOS1):c.1532C>A (p.Ser511Tyr) rs142729431 0.00101
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058 0.00101
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00101
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_013266.4(CTNNA3):c.844-15G>A rs201089736 0.00098
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) rs3729753 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000631.5(NCF4):c.478G>A (p.Val160Met) rs150103256 0.00093
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_030912.3(TRIM8):c.270G>A (p.Leu90=) rs375705231 0.00091
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00091
NM_002471.4(MYH6):c.3978+8C>T rs367866050 0.00088
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324 0.00084
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_032119.4(ADGRV1):c.18803-13A>G rs41305902 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_005548.3(KARS1):c.612A>G (p.Thr204=) rs141539149 0.00081
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157 0.00080
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_002471.4(MYH6):c.735+16C>T rs76202841 0.00080
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_207361.6(FREM2):c.7590C>T (p.Gly2530=) rs200338297 0.00079
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00076
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_001042475.3(CEP85L):c.1020+6663G>A rs189611501 0.00073
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00069
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827 0.00068
NM_001103.4(ACTN2):c.546T>C (p.Asp182=) rs34263845 0.00066
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707 0.00063
NM_005629.4(SLC6A8):c.777+4C>T rs201581661 0.00063
NM_006922.4(SCN3A):c.5658C>T (p.Val1886=) rs141161490 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_001394962.1(KIAA1210):c.3347T>C (p.Leu1116Pro) rs200015496 0.00061
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_080424.4(SP110):c.1591-9C>T rs202101309 0.00058
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_007315.4(STAT1):c.1263+7G>A rs56228116 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00054
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln) rs115308424 0.00052
NM_144969.3(ZDHHC15):c.831G>C (p.Lys277Asn) rs145401990 0.00052
NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile) rs117366477 0.00051
NM_002025.4(AFF2):c.3693C>T (p.Gly1231=) rs140356860 0.00051
NM_004946.3(DOCK2):c.979+6G>A rs200237259 0.00051
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_025074.7(FRAS1):c.5725G>A (p.Val1909Ile) rs182652779 0.00049
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_177972.3(TUB):c.1386C>T (p.Asp462=) rs151125191 0.00047
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000230.3(LEP):c.15C>G (p.Thr5=) rs142904532 0.00045
NM_002471.4(MYH6):c.1141+8G>T rs377327277 0.00045
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00045
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001379286.1(ZNF423):c.100+8C>T rs148101280 0.00041
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_198334.3(GANAB):c.2173G>A (p.Val725Ile) rs199956781 0.00039
NM_005184.4(CALM3):c.183C>T (p.Asn61=) rs3729761 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_173495.3(PTCHD1):c.1012+5T>C rs201933353 0.00035
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000168.6(GLI3):c.211G>A (p.Val71Ile) rs143843875 0.00031
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) rs767013819 0.00029
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_015158.5(KANK1):c.3554-5T>A rs76738278 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048 0.00025
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys) rs138672759 0.00024
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_001110556.2(FLNA):c.1229-8C>T rs376190976 0.00022
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000276.4(OCRL):c.152A>G (p.His51Arg) rs764804719 0.00020
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=) rs104895398 0.00020
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) rs769657433 0.00020
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_015141.4(GPD1L):c.459C>T (p.Asn153=) rs375532052 0.00019
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_001943.5(DSG2):c.783T>A (p.Arg261=) rs369869320 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_002474.3(MYH11):c.3858+16G>C rs370164910 0.00013
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys) rs769442220 0.00010
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_013266.4(CTNNA3):c.399G>A (p.Thr133=) rs150376558 0.00009
NM_016032.4(ZDHHC9):c.674+9C>T rs376385410 0.00009
NM_032119.4(ADGRV1):c.16079-11C>G rs374007277 0.00009
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00008
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.5772C>T (p.Gly1924=) rs541661201 0.00007
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=) rs192232825 0.00007
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 0.00006
NM_001267550.2(TTN):c.66160+15C>T rs377288086 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00004
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_025137.4(SPG11):c.23C>G (p.Ala8Gly) rs200939573 0.00004
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val) rs587782331 0.00003
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_015910.7(WDPCP):c.76-15T>A rs200557033 0.00003
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702 0.00002
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00002
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00002
NM_207361.6(FREM2):c.5138A>G (p.Asp1713Gly) rs778728471 0.00002
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) rs200001131 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_006642.5(SDCCAG8):c.93A>G (p.Gln31=) rs1280437925 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.423-4del rs730881230
NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000065.5(C6):c.10C>T (p.Arg4Cys) rs150931891
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000194.3(HPRT1):c.319-7dup rs371480320
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000267.3(NF1):c.730+32dup rs71142032
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000310.4(PPT1):c.537-8del rs760997725
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000381.4(MID1):c.661-7del rs375668839
NM_000381.4(MID1):c.661-7dup rs375668839
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000426.4(LAMA2):c.9212-15C>A rs55776770
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000501.4(ELN):c.133+16C>A rs144223231
NM_000501.4(ELN):c.134-5C>A rs202142516
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000527.5(LDLR):c.941-4G>A
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000552.5(VWF):c.1110-6dup rs534403271
NM_000722.4(CACNA2D1):c.659-4_659-3del rs370103843
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001037.5(SCN1B):c.522C>A (p.Leu174=) rs35478147
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001098668.4(SFTPA2):c.186G>A (p.Pro62=) rs2434114
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001130823.3(DNMT1):c.1044-9_1044-8del rs59599980
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001146.5(ANGPT1):c.228G>A (p.Pro76=) rs147086219
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001164508.2(NEB):c.11077-20dup rs749915004
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu) rs61731667
NM_001267550.2(TTN):c.100766-10dup rs749872538
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.40222+2TA[10] rs10580462
NM_001267550.2(TTN):c.40222+2TA[12] rs10580462
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.57847+7dup rs111496283
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001278064.2(GRM1):c.950+8TC[17] rs72225459
NM_001278064.2(GRM1):c.950+8TC[20] rs72225459
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr) rs191329848
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001369.3(DNAH5):c.2578-7del rs71600031
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[14] (p.Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001555.5(IGSF1):c.498G>C (p.Glu166Asp) rs201255931
NM_001643.2(APOA2):c.53-43TG[14] rs17244502
NM_001845.6(COL4A1):c.2096-27dup rs112508409
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr) rs41270321
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del) rs72555376
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.4(MYH6):c.3979-9C>A rs57660219
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6789-19_6789-18dup rs5778083
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003859.3(DPM1):c.679-8dup rs11483542
NM_004006.3(DMD):c.3603+15del rs5902031
NM_004006.3(DMD):c.3603+3dup rs5902031
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004113.6(FGF12):c.229-8del rs34265167
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004960.4(FUS):c.1542-5dup rs371057360
NM_004960.4(FUS):c.518_523del
NM_004977.3(KCNC3):c.2170+14C>T rs189018316
NM_005045.4(RELN):c.5211-7dup rs34125550
NM_005159.5(ACTC1):c.809-58TG[20] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_006073.4(TRDN):c.1805-21dup rs11373802
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006265.3(RAD21):c.815-6_815-5del rs35902828
NM_006516.4(SLC2A1):c.679+7G>A rs13306757
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_007078.3(LDB3):c.1318T>C (p.Ser440Pro) rs868594949
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007325.5(GRIA3):c.268+16762dup rs11452643
NM_012200.4(B3GAT3):c.909+262del rs35002433
NM_014251.3(SLC25A13):c.848+8G>T rs761126981
NM_014391.3(ANKRD1):c.346-43AT[13] rs60406118
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015294.6(TRIM37):c.810-3del rs367700401
NM_015570.4(AUTS2):c.3437G>T (p.Gly1146Val) rs150926322
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017827.4(SARS2):c.1530_1538dup (p.Leu511_Gly513dup) rs551671819
NM_018718.3(CEP41):c.575-14del rs144531086
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
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_020451.3(SELENON):c.1092+6C>G rs148071754
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) rs56064803
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_152468.5(TMC8):c.988-4G>A rs62079073
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_175875.5(SIX5):c.150CGGGGC[3] (p.51GA[4]) rs563227896
NM_182895.5(SCARF2):c.2232= (p.Arg744=)
NM_182961.4(SYNE1):c.17203-6dup rs55633181
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2719-28CCCT[6] rs3840030
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915

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