ClinVar Miner

Variants with conflicting interpretations "benign" from Eurofins NTD LLC (GA) and "likely benign" from any submitter

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4183
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HGVS dbSNP gnomAD frequency
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99890
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_002025.4(AFF2):c.3404+7A>G rs5980615 0.95464
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
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_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.79547
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_006013.5(RPL10):c.605= (p.Ser202=) rs4909 0.69154
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
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_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.67221
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.63165
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
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_006059.4(LAMC3):c.219T>G (p.His73Gln) rs3739512 0.56936
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_000104.4(CYP1B1):c.1294= (p.Leu432=) rs1056836 0.48746
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
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_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_000795.4(DRD2):c.957C>T (p.Pro319=) rs6277 0.37659
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34271
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
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_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=) rs11556200 0.29252
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser) rs869457 0.28273
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25907
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) rs1800497 0.25693
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045 0.20167
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
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_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16998
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.16614
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000392.5(ABCC2):c.-24C>T rs717620 0.15338
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=) rs7049300 0.13090
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_006059.4(LAMC3):c.75C>T (p.Cys25=) rs13286358 0.10217
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192 0.06550
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06519
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06491
NM_002206.3(ITGA7):c.415-10C>T rs11171661 0.06475
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=) rs61741754 0.06453
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000335.5(SCN5A):c.274-24C>T rs7627488 0.06378
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145 0.06185
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740 0.05992
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675 0.05834
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_001849.4(COL6A2):c.1970-23G>C rs78764604 0.05599
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_001379110.1(SLC9A6):c.1306+8G>A rs6654310 0.05510
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_001848.3(COL6A1):c.1002+37A>G rs11702174 0.05344
NM_052845.4(MMAB):c.135-23T>C rs66580225 0.05340
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
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_201384.3(PLEC):c.3717C>T (p.Ala1239=) rs112173070 0.04668
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=) rs61753881 0.04533
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
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_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04328
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04323
NM_000942.4(PPIB):c.-171C>T rs112481305 0.04313
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.04109
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.04078
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) rs2234256 0.04010
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
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_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) rs58836306 0.03656
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
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_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_001130987.2(DYSF):c.460+17G>C rs115170960 0.03446
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235 0.03438
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03405
NM_000071.3(CBS):c.317-46G>C rs75873792 0.03396
NM_152419.3(HGSNAT):c.493+46G>T rs72647302 0.03382
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001130987.2(DYSF):c.951+39T>C rs74384941 0.03312
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_022039.4(FBXW4):c.534C>G (p.Ala178=) rs61761937 0.03084
NM_020751.3(COG6):c.1693-6A>T rs78336861 0.03077
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.03046
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_001122630.2(CDKN1C):c.-11+60G>A rs143992355 0.02792
NM_000074.2(CD40LG):c.-191A>C rs36206512 0.02791
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_001848.3(COL6A1):c.1823-31C>T rs117330552 0.02707
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) rs2229109 0.02618
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
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_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) rs117054456 0.02550
NM_020223.4(FAM20C):c.1652G>A (p.Arg551His) rs150231592 0.02546
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
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_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=) rs11905235 0.02405
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509 0.02246
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_133378.4(TTN):c.93062-10T>C rs202214630 0.02222
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668 0.02180
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_000540.3(RYR1):c.11260-19T>G rs4802583 0.02140
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001849.4(COL6A2):c.116-34G>A rs117154313 0.02070
NM_002206.3(ITGA7):c.2433-5G>A rs79745402 0.02069
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu) rs116259120 0.02047
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_013382.7(POMT2):c.1007-32G>A rs79509556 0.02044
NM_005045.4(RELN):c.26A>C (p.Gln9Pro) rs115165703 0.02037
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 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.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892 0.01962
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_000154.2(GALK1):c.611+34G>A rs76743658 0.01955
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746 0.01926
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=) rs75060573 0.01901
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01893
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_153252.5(BRWD3):c.813+10G>C rs55824836 0.01875
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01874
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.7668+21G>C rs11897148 0.01818
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly) rs78599355 0.01806
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_173660.5(DOK7):c.-6C>G rs191800156 0.01785
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_001100.4(ACTA1):c.129+31C>A rs144658220 0.01631
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_020365.5(EIF2B3):c.1202+8T>G rs77068026 0.01589
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_004369.4(COL6A3):c.6157-16G>A rs112637114 0.01524
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652 0.01515
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_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=) rs111744086 0.01476
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022 0.01436
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=) rs34367758 0.01387
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01378
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=) rs35489467 0.01378
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_001195553.2(DCX):c.947-46T>C rs113181679 0.01340
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_170682.4(P2RX2):c.554+14C>A rs151253585 0.01337
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys) rs17173698 0.01330
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=) rs80143277 0.01298
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_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) rs35937854 0.01284
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_019066.5(MAGEL2):c.901C>T (p.Pro301Ser) rs138154793 0.01279
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_031900.4(AGXT2):c.1188+1G>A rs114286107 0.01270
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696 0.01246
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_022132.5(MCCC2):c.1574+37C>G rs138725621 0.01241
NM_004385.5(VCAN):c.8622G>A (p.Ala2874=) rs3096171 0.01237
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_201384.3(PLEC):c.2305-10del rs142120912 0.01228
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) rs115477764 0.01222
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029 0.01211
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974 0.01195
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_001848.3(COL6A1):c.859-20C>T rs78884675 0.01182
NM_001848.3(COL6A1):c.717+32C>T rs114454809 0.01179
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu) rs12689863 0.01172
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala) rs35643193 0.01167
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_003482.4(KMT2D):c.8047-15C>T rs202244933 0.01140
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_018668.5(VPS33B):c.-8C>T rs11542639 0.01125
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182 0.01122
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937 0.01118
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) rs117306121 0.01118
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) rs73377210 0.01114
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001256715.2(DNAAF3):c.323-17T>G rs10407660 0.01106
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_004006.3(DMD):c.7310-36C>T rs72466586 0.01045
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) rs34503558 0.01014
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_001079802.2(FKTN):c.106-40A>G rs79175958 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe) rs75301950 0.01000
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830 0.00998
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_201384.3(PLEC):c.2832C>T (p.Gly944=) rs145050858 0.00969
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.00959
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu) rs2498170 0.00954
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=) rs59844753 0.00947
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_001848.3(COL6A1):c.1740+50C>T rs148205490 0.00926
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_138694.4(PKHD1):c.391-43T>A rs116414807 0.00920
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
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_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_004369.4(COL6A3):c.6408+44A>G rs78398512 0.00900
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.00898
NM_003361.4(UMOD):c.1740+38C>T rs116674896 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000523.4(HOXD13):c.41C>T (p.Ala14Val) rs555136684 0.00891
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321 0.00878
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_022437.3(ABCG8):c.51C>A (p.Pro17=) rs72647316 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315 0.00867
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_019066.5(MAGEL2):c.1446T>C (p.Ala482=) rs2233065 0.00866
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) rs185978075 0.00852
NM_000404.4(GLB1):c.552+21G>A rs76275661 0.00847
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) rs200353947 0.00844
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro) rs191559595 0.00841
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_001195553.2(DCX):c.705+48A>G rs201805884 0.00836
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg) rs41494349 0.00826
NM_004006.3(DMD):c.-419A>G rs150939177 0.00821
NM_004715.5(CTDP1):c.213G>C (p.Gly71=) rs201234471 0.00821
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_020451.3(SELENON):c.747+39C>T rs114458946 0.00808
NM_000327.4(ROM1):c.868del (p.Gln290fs) rs548233813 0.00807
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_133497.4(KCNV2):c.849G>A (p.Glu283=) rs17656693 0.00801
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_001277313.2(FMN1):c.2044-1818A>G rs74655292 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=) rs45506098 0.00771
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00763
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_000282.4(PCCA):c.2119-43T>C rs150390822 0.00754
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_000875.5(IGF1R):c.2700C>T (p.Asn900=) rs56400113 0.00749
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys) rs75125670 0.00711
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=) rs142744007 0.00709
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00703
NM_004316.4(ASCL1):c.123A>G (p.Ala41=) rs558732328 0.00702
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) rs117706710 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_005148.4(UNC119):c.65G>T (p.Gly22Val) rs199714731 0.00691
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro) rs149252987 0.00689
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala) rs35794435 0.00685
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00674
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001848.3(COL6A1):c.588+37A>G rs117470181 0.00672
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542 0.00665
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser) rs80046653 0.00659
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=) rs76587489 0.00652
NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=) rs116964444 0.00651
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583 0.00649
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280 0.00646
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600 0.00644
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00644
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) rs111381107 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr) rs78763451 0.00634
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816 0.00631
NM_031433.4(MFRP):c.1635G>A (p.Ala545=) rs138370910 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00631
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564 0.00627
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788 0.00612
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
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_012418.4(FSCN2):c.412C>T (p.His138Tyr) rs143796236 0.00609
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00607
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_001378414.1(HDAC4):c.1692G>A (p.Lys564=) rs114495208 0.00604
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr) rs34973107 0.00602
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=) rs75181912 0.00599
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909 0.00597
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001077365.2(POMT1):c.1826-40G>A rs187443595 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287 0.00595
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly) rs13406336 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_182961.4(SYNE1):c.4789-13G>A rs142900784 0.00579
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001558.4(IL10RA):c.21G>C (p.Val7=) rs4252301 0.00575
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_016120.4(RLIM):c.777G>A (p.Thr259=) rs148132680 0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_181882.3(PRX):c.133C>G (p.Arg45Gly) rs115090201 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388 0.00560
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) rs35089085 0.00547
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=) rs1992376 0.00546
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_178012.5(TUBB2B):c.330C>T (p.Ala110=) rs141251993 0.00541
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00540
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_138694.4(PKHD1):c.2407+42T>G rs78918693 0.00539
NM_000266.4(NDP):c.69C>G (p.Asp23Glu) rs5952410 0.00538
NM_001061.7(TBXAS1):c.357G>A (p.Ser119=) rs41275018 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322 0.00535
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr) rs62642053 0.00533
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
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_000541.5(SAG):c.250C>T (p.Arg84Cys) rs115857633 0.00530
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser) rs55971855 0.00530
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_001848.3(COL6A1):c.1119+39C>T rs74982956 0.00527
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_024296.5(CCDC28B):c.463G>A (p.Gly155Arg) rs140234450 0.00525
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884 0.00524
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977 0.00522
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231 0.00520
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00513
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_133497.4(KCNV2):c.312T>C (p.Gly104=) rs150685794 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949 0.00509
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=) rs17419023 0.00508
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly) rs145618122 0.00506
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368 0.00506
NM_000038.6(APC):c.532-32T>C rs112108777 0.00505
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000369.5(TSHR):c.106G>C (p.Asp36His) rs61747482 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_000744.7(CHRNA4):c.76+18G>T rs199908363 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
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_020223.4(FAM20C):c.646G>A (p.Gly216Arg) rs61734970 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=) rs35003467 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00487
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_014425.5(INVS):c.725C>T (p.Ser242Leu) rs2491097 0.00485
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) rs79313758 0.00483
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198 0.00479
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001330078.2(NRXN1):c.1760-16C>T rs79422704 0.00472
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_001379286.1(ZNF423):c.1986C>T (p.His662=) rs75294107 0.00469
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_005045.4(RELN):c.3712A>C (p.Asn1238His) rs114003896 0.00468
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=) rs61739663 0.00465
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675 0.00464
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_006013.5(RPL10):c.23+9T>A rs2070820 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00461
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_004369.4(COL6A3):c.6592-27del rs60436236 0.00457
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_001193315.2(VIPAS39):c.1242G>A (p.Leu414=) rs45447095 0.00453
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=) rs34854594 0.00449
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00445
NM_000492.4(CFTR):c.3718-2530A>G rs213990 0.00445
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr) rs141639885 0.00444
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_138959.3(VANGL1):c.435T>C (p.Cys145=) rs34768472 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met) rs377665141 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln) rs188076386 0.00439
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg) rs142411445 0.00438
NM_001384140.1(PCDH15):c.4671+1087C>T rs12359240 0.00438
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_007214.5(SEC63):c.340-12G>T rs2064201 0.00438
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) rs147426569 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_001319074.4(RAX2):c.45T>G (p.Gly15=) rs139127905 0.00435
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp) rs141865394 0.00423
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00422
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_002768.5(CHMP1A):c.27+10G>A rs140547967 0.00420
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=) rs116537677 0.00415
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_012448.4(STAT5B):c.247C>T (p.Leu83=) rs146176992 0.00415
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_000426.4(LAMA2):c.3556-15T>G rs17741922 0.00414
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357 0.00414
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val) rs118056333 0.00410
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=) rs150027129 0.00408
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) rs112968165 0.00406
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) rs115735672 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054 0.00402
NM_020184.4(CNNM4):c.399G>A (p.Val133=) rs34147094 0.00402
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_145167.3(PIGM):c.6C>T (p.Gly2=) rs61757715 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=) rs145677050 0.00395
NM_001701.4(BAAT):c.951G>A (p.Gln317=) rs61756326 0.00395
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383 0.00393
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=) rs113074898 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_006899.5(IDH3B):c.117+6C>A rs191680997 0.00388
NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=) rs11573942 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374 0.00383
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_003392.7(WNT5A):c.588C>T (p.Phe196=) rs200868061 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_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852 0.00381
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_014008.5(CCDC22):c.1163G>A (p.Arg388His) rs113045747 0.00379
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=) rs56294552 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn) rs112306225 0.00377
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00376
NM_000327.4(ROM1):c.686G>A (p.Arg229His) rs150168119 0.00375
NM_017534.6(MYH2):c.4989G>A (p.Leu1663=) rs61736461 0.00375
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_201384.3(PLEC):c.6513G>A (p.Lys2171=) rs184102912 0.00374
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_024915.4(GRHL2):c.1098+9C>T rs189993760 0.00370
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) rs142729495 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_005122.5(NR1I3):c.930G>A (p.Ala310=) rs36017137 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) rs146159035 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387 0.00354
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=) rs375709463 0.00354
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_017668.3(NDE1):c.486C>T (p.Leu162=) rs140251634 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377 0.00352
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_021939.4(FKBP10):c.504C>T (p.Pro168=) rs113640022 0.00350
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00349
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244 0.00347
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln) rs114351116 0.00347
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) rs114554195 0.00347
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000666.3(ACY1):c.1178G>A (p.Arg393His) rs121912701 0.00345
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu) rs146076380 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_000261.2(MYOC):c.855G>T (p.Thr285=) rs146606638 0.00344
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) rs79374915 0.00344
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_031433.4(MFRP):c.629G>T (p.Gly210Val) rs150902999 0.00344
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=) rs148674729 0.00342
NM_001849.4(COL6A2):c.1116+22C>T rs111592472 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_012254.3(SLC27A5):c.641C>T (p.Ala214Val) rs113904799 0.00340
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542 0.00339
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) rs35911211 0.00339
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373 0.00339
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_021116.4(ADCY1):c.2327+6T>A rs75860455 0.00335
NM_175875.5(SIX5):c.732G>A (p.Gln244=) rs141944211 0.00335
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_014008.5(CCDC22):c.536-7C>T rs191605685 0.00334
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg) rs184879368 0.00330
NM_000493.4(COL10A1):c.23T>G (p.Leu8Trp) rs34539681 0.00329
NM_000900.5(MGP):c.157A>G (p.Lys53Glu) rs1801716 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108 0.00329
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) rs371421350 0.00329
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_022350.5(ERAP2):c.1232T>G (p.Leu411Arg) rs34261036 0.00328
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106 0.00326
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840 0.00325
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_001130969.3(NSMF):c.1467C>T (p.Phe489=) rs139341268 0.00323
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) rs112864468 0.00322
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=) rs12721430 0.00322
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001369268.1(ACAN):c.186C>T (p.Thr62=) rs191648646 0.00321
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met) rs115033462 0.00319
NM_182914.3(SYNE2):c.11379T>C (p.Leu3793=) rs149391344 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val) rs142653846 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_017534.6(MYH2):c.2295G>A (p.Gly765=) rs79757188 0.00317
NM_203486.3(DLL3):c.1307G>A (p.Arg436His) rs199831437 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_004369.4(COL6A3):c.7162+48G>A rs112563876 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_002979.5(SCP2):c.675-6T>C rs115815213 0.00313
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr) rs34080096 0.00311
NM_006790.3(MYOT):c.1190+7T>C rs192405601 0.00311
NM_000036.3(AMPD1):c.99A>G (p.Gly33=) rs61752480 0.00310
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_205861.3(DHDDS):c.324-10C>T rs144459149 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_005562.3(LAMC2):c.880C>T (p.Leu294=) rs144572936 0.00307
NM_019032.6(ADAMTSL4):c.2969C>T (p.Thr990Met) rs139784416 0.00307
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=) rs35579821 0.00306
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291 0.00306
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_001384140.1(PCDH15):c.3717+8G>C rs200556301 0.00305
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000397.4(CYBB):c.654C>A (p.Gly218=) rs35080474 0.00303
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=) rs35648048 0.00302
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00302
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000515.5(GH1):c.363T>A (p.Ser121Arg) rs137882374 0.00300
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343 0.00300
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=) rs201207627 0.00299
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00299
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_000426.4(LAMA2):c.675C>T (p.Ala225=) rs139665175 0.00298
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_002900.3(RBP3):c.1631G>A (p.Arg544His) rs41284962 0.00297
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln) rs145379416 0.00297
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg) rs148585367 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln) rs200424850 0.00294
NM_014762.4(DHCR24):c.81C>T (p.Leu27=) rs140995590 0.00294
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004482.4(GALNT3):c.132A>G (p.Gln44=) rs149809222 0.00293
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) rs115169993 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) rs113747896 0.00291
NM_001378414.1(HDAC4):c.1095+10C>G rs11896634 0.00291
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=) rs143981992 0.00291
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_022436.3(ABCG5):c.1763-7T>G rs114780578 0.00288
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558 0.00287
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=) rs146294986 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00286
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) rs373880077 0.00285
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) rs151147114 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_001079802.2(FKTN):c.1045-40C>A rs145883833 0.00284
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=) rs189752384 0.00284
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=) rs61737781 0.00283
NM_003482.4(KMT2D):c.4020+13C>G rs184377216 0.00283
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) rs116105264 0.00283
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231 0.00283
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821 0.00280
NM_015340.4(LARS2):c.2307C>T (p.Ser769=) rs143838895 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720 0.00279
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_002181.4(IHH):c.315+8C>T rs186249490 0.00278
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714 0.00276
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=) rs149408382 0.00276
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001193315.2(VIPAS39):c.861C>T (p.Ser287=) rs148698913 0.00275
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg) rs150199226 0.00275
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282 0.00272
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=) rs113542401 0.00272
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904 0.00272
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His) rs145372749 0.00272
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00272
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_000426.4(LAMA2):c.5247C>T (p.Ala1749=) rs149951387 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_018979.4(WNK1):c.5583+3A>G rs72650758 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) rs8187709 0.00269
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836 0.00268
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745 0.00267
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241 0.00265
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val) rs116729313 0.00265
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_017775.4(TTC19):c.1041A>G (p.Gln347=) rs77955179 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_000717.5(CA4):c.492G>A (p.Ala164=) rs139119204 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_078470.6(COX15):c.1026C>T (p.Phe342=) rs147724430 0.00264
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=) rs201145311 0.00263
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00262
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) rs190361551 0.00262
NM_018668.5(VPS33B):c.842C>G (p.Ala281Gly) rs115308854 0.00262
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser) rs115149211 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119 0.00260
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00259
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_181882.3(PRX):c.2043C>T (p.Pro681=) rs56743160 0.00259
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279 0.00255
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys) rs76776637 0.00254
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_005802.5(TOPORS):c.2643C>G (p.His881Gln) rs41302222 0.00253
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) rs147791304 0.00253
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_001457.4(FLNB):c.1044C>T (p.Asp348=) rs111996979 0.00252
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192 0.00249
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile) rs76659072 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) rs201835507 0.00247
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815 0.00246
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987 0.00245
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn) rs115421185 0.00244
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178 0.00244
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=) rs150082469 0.00244
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_006432.5(NPC2):c.*9T>C rs80216539 0.00243
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00242
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 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_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) rs140047528 0.00239
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=) rs201174259 0.00238
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) rs116306908 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_133497.4(KCNV2):c.291C>T (p.Ser97=) rs113456345 0.00237
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261 0.00236
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) rs145035489 0.00236
NM_080916.3(DGUOK):c.123C>G (p.Leu41=) rs145252858 0.00236
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) rs146730044 0.00234
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=) rs140064980 0.00234
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=) rs148538539 0.00234
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001173467.3(SP7):c.864G>A (p.Leu288=) rs113295055 0.00232
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln) rs74358901 0.00232
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) rs144715071 0.00232
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser) rs186143284 0.00232
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=) rs148813865 0.00231
NM_002615.7(SERPINF1):c.555G>A (p.Gln185=) rs34063250 0.00231
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00230
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly) rs151022876 0.00230
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln) rs116823950 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_006059.4(LAMC3):c.3927+8C>G rs148008251 0.00228
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_002335.4(LRP5):c.4209C>G (p.Val1403=) rs147671915 0.00226
NM_006059.4(LAMC3):c.3347C>G (p.Ala1116Gly) rs36028197 0.00226
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=) rs113137721 0.00225
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_014319.5(LEMD3):c.2388-7C>T rs184015447 0.00224
NM_025193.4(HSD3B7):c.357C>T (p.Thr119=) rs117645456 0.00224
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe) rs150093878 0.00223
NM_000163.5(GHR):c.99C>G (p.Pro33=) rs76183160 0.00222
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860 0.00222
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala) rs142849754 0.00221
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_005802.5(TOPORS):c.1560A>G (p.Gln520=) rs61756347 0.00220
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_003680.4(YARS1):c.52C>T (p.Leu18=) rs147538442 0.00218
NM_005045.4(RELN):c.9321C>T (p.Leu3107=) rs150387973 0.00218
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) rs61734178 0.00217
NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys) rs151153639 0.00217
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) rs151241025 0.00216
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830 0.00215
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464 0.00215
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745 0.00215
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007 0.00213
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972 0.00212
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679 0.00211
NM_004006.3(DMD):c.31+36946C>T rs186833917 0.00211
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816 0.00211
NM_017946.4(FKBP14):c.495G>A (p.Lys165=) rs142474407 0.00211
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263 0.00211
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264 0.00210
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001849.4(COL6A2):c.1671+9C>T rs186428044 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150 0.00209
NM_014491.4(FOXP2):c.552A>G (p.Gln184=) rs146945410 0.00209
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_001378452.1(ITPR1):c.1886+7C>T rs181465598 0.00207
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_172107.4(KCNQ2):c.*4G>A rs1801508 0.00207
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_001042545.2(LTBP4):c.3129C>T (p.Val1043=) rs78745792 0.00205
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00205
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524 0.00205
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser) rs148593258 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys) rs74664147 0.00203
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_000860.6(HPGD):c.93+1_93+3dup rs70947447 0.00201
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr) rs201070741 0.00200
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_001374385.1(ATP8B1):c.189A>G (p.Thr63=) rs35377845 0.00198
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_004958.4(MTOR):c.663C>G (p.Thr221=) rs112439072 0.00198
NM_006129.5(BMP1):c.1170G>T (p.Ala390=) rs76021885 0.00198
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=) rs138291748 0.00197
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_001015880.2(PAPSS2):c.861A>G (p.Leu287=) rs150727538 0.00196
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_006790.3(MYOT):c.822T>C (p.Ser274=) rs138678049 0.00195
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) rs200528472 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_002335.4(LRP5):c.1968C>T (p.His656=) rs144847027 0.00194
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_181486.4(TBX5):c.114C>T (p.Ser38=) rs34014008 0.00194
NM_182961.4(SYNE1):c.23461-6A>C rs145098375 0.00194
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) rs147227015 0.00193
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000392.5(ABCC2):c.159A>G (p.Lys53=) rs17222596 0.00191
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His) rs147181577 0.00191
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu) rs145318018 0.00191
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00191
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240 0.00190
NM_005045.4(RELN):c.8120-9T>C rs74952625 0.00190
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00190
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193 0.00188
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_005122.5(NR1I3):c.289C>T (p.Arg97Trp) rs34161743 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485 0.00188
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_001384732.1(CPLANE1):c.5738-6C>T rs148634159 0.00186
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680 0.00185
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00185
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_001378414.1(HDAC4):c.684G>A (p.Pro228=) rs144387989 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459 0.00183
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936 0.00183
NM_032119.4(ADGRV1):c.15343C>T (p.Leu5115=) rs41304886 0.00183
NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys) rs187338487 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00182
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr) rs61754648 0.00181
NM_182914.3(SYNE2):c.20197G>A (p.Glu6733Lys) rs150172232 0.00181
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr) rs116005499 0.00180
NM_006662.3(SRCAP):c.132C>T (p.Gly44=) rs149628651 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_006059.4(LAMC3):c.1630+5C>G rs184221540 0.00178
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017 0.00176
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_031433.4(MFRP):c.773-9C>T rs187321874 0.00176
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) rs141873759 0.00175
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282 0.00175
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_005529.7(HSPG2):c.959-5C>T rs149574138 0.00175
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) rs201672146 0.00173
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_006486.3(FBLN1):c.1209C>T (p.Cys403=) rs140586412 0.00173
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=) rs191249840 0.00173
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147 0.00173
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_201384.3(PLEC):c.1042-4A>G rs112966803 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951 0.00170
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_001853.4(COL9A3):c.468C>T (p.Pro156=) rs137979802 0.00169
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288 0.00169
NM_133379.5(TTN):c.14820G>A (p.Val4940=) rs145029589 0.00169
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_012254.3(SLC27A5):c.1125C>T (p.Gly375=) rs144295671 0.00168
NM_177965.4(CFAP418):c.126G>C (p.Arg42=) rs115853053 0.00168
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=) rs142554239 0.00167
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326 0.00166
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=) rs116537749 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_003106.4(SOX2):c.834C>T (p.Leu278=) rs144530684 0.00166
NM_005477.3(HCN4):c.1978+3G>T rs113112855 0.00166
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001164508.2(NEB):c.3639C>T (p.Val1213=) rs74320183 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567 0.00163
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_002181.4(IHH):c.618C>T (p.Ala206=) rs3731879 0.00163
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00163
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796 0.00163
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001130987.2(DYSF):c.429C>T (p.Ser143=) rs115390288 0.00161
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163 0.00159
NM_001844.5(COL2A1):c.3003+9G>A rs200403247 0.00159
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331 0.00158
NM_001235.5(SERPINH1):c.721+9T>C rs138193444 0.00158
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_201384.3(PLEC):c.3210G>A (p.Thr1070=) rs375699173 0.00158
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) rs148247227 0.00157
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) rs140014632 0.00157
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629 0.00157
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637 0.00157
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=) rs199866902 0.00157
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_002335.4(LRP5):c.2295G>A (p.Ser765=) rs140955013 0.00156
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_000095.3(COMP):c.2262G>A (p.Leu754=) rs150428337 0.00155
NM_001235.5(SERPINH1):c.267G>A (p.Thr89=) rs139127426 0.00155
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539 0.00155
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_001918.5(DBT):c.175+37G>A rs76902654 0.00154
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618 0.00154
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565 0.00153
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_133379.5(TTN):c.15228C>A (p.Pro5076=) rs143135505 0.00151
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159 0.00150
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447 0.00150
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln) rs143163513 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00147
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys) rs62638210 0.00146
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547 0.00146
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099 0.00146
NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) rs202040785 0.00146
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00144
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817 0.00140
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_005634.3(SOX3):c.603G>A (p.Lys201=) rs138530785 0.00138
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=) rs144520047 0.00137
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr) rs79708790 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369 0.00135
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_006019.4(TCIRG1):c.528C>A (p.Pro176=) rs538805960 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_025074.7(FRAS1):c.4958C>T (p.Pro1653Leu) rs6813102 0.00134
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921 0.00134
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001458.5(FLNC):c.6005-9T>C rs118124743 0.00133
NM_002133.3(HMOX1):c.330C>T (p.Ala110=) rs150515195 0.00133
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu) rs2233062 0.00132
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) rs78807992 0.00130
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr) rs57351269 0.00129
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148 0.00128
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000492.4(CFTR):c.4242+10T>C rs138642693 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_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976 0.00125
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_030665.4(RAI1):c.840G>A (p.Gln280=) rs398124421 0.00123
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730 0.00122
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met) rs35524572 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644 0.00120
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp) rs144641429 0.00118
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571 0.00118
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433 0.00117
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001287.6(CLCN7):c.1806C>T (p.Tyr602=) rs112753643 0.00115
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_002024.6(FMR1):c.1857C>T (p.Asp619=) rs45540244 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335 0.00115
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=) rs200813566 0.00113
NM_030665.4(RAI1):c.972G>A (p.Pro324=) rs138675466 0.00113
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=) rs184650144 0.00111
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) rs139861062 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00108
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=) rs142219317 0.00106
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_005333.5(HCCS):c.216G>C (p.Ala72=) rs144152239 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys) rs148911180 0.00105
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys) rs143532979 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) rs149003627 0.00101
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_005216.5(DDOST):c.711C>T (p.Arg237=) rs34189097 0.00099
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) rs199921300 0.00098
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr) rs150161574 0.00096
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605 0.00095
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_000426.4(LAMA2):c.6649G>A (p.Val2217Ile) rs147857398 0.00093
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) rs142359170 0.00093
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964 0.00089
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274 0.00088
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser) rs150996735 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln) rs145697858 0.00087
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_002206.3(ITGA7):c.791-7C>T rs144699549 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) rs373274913 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) rs146685404 0.00086
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=) rs75648145 0.00085
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_152415.3(VPS37A):c.-19G>A rs59276128 0.00085
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119 0.00081
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_004463.3(FGD1):c.482-10G>A rs146783766 0.00079
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_016616.5(NME8):c.271-3T>C rs191137504 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) rs139309563 0.00077
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147 0.00076
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) rs200061415 0.00076
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) rs138803855 0.00075
NM_000283.4(PDE6B):c.1401+7_1401+8insA rs537010934 0.00074
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=) rs144697999 0.00073
NM_022039.4(FBXW4):c.1380C>T (p.Phe460=) rs145250200 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074 0.00072
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg) rs150583010 0.00071
NM_003336.4(UBE2A):c.321A>G (p.Thr107=) rs61757566 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_012418.4(FSCN2):c.984-7C>T rs139335460 0.00071
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984 0.00070
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_024312.5(GNPTAB):c.323+36A>G rs182910639 0.00070
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00069
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser) rs45611935 0.00067
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936 0.00067
NM_012470.4(TNPO3):c.-9G>A rs201636723 0.00067
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491 0.00067
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424 0.00066
NM_004006.3(DMD):c.1812C>T (p.Ala604=) rs140919039 0.00066
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370 0.00066
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932 0.00066
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715 0.00066
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004006.3(DMD):c.2199C>T (p.Ser733=) rs149882431 0.00064
NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=) rs138541811 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) rs146801512 0.00063
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=) rs149964599 0.00062
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252 0.00061
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) rs138987487 0.00059
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00059
NM_000157.4(GBA1):c.1497G>C (p.Val499=) rs1135675 0.00058
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055 0.00058
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00058
NM_012254.3(SLC27A5):c.743G>A (p.Arg248His) rs138318343 0.00058
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) rs2071848 0.00055
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_000417.3(IL2RA):c.711A>G (p.Thr237=) rs11256354 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly) rs139684843 0.00053
NM_181303.2(NLGN3):c.594T>C (p.Gly198=) rs144247281 0.00053
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826 0.00052
NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg) rs201506921 0.00051
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=) rs117517372 0.00048
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494 0.00048
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399 0.00046
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812 0.00045
NM_001291867.2(NHS):c.1596G>A (p.Glu532=) rs146437542 0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=) rs191358470 0.00044
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His) rs200477567 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) rs201900751 0.00041
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_014639.4(SKIC3):c.3079G>A (p.Gly1027Ser) rs188952987 0.00041
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=) rs150219857 0.00039
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668 0.00039
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083 0.00037
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_133379.5(TTN):c.10646G>A (p.Arg3549His) rs148115514 0.00036
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly) rs138018739 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn) rs201327014 0.00035
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501 0.00035
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) rs116238578 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_201384.3(PLEC):c.6162C>T (p.His2054=) rs563719398 0.00034
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00033
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) rs201234047 0.00031
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=) rs201814201 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958 0.00029
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=) rs117423703 0.00029
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=) rs188900504 0.00028
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_004006.3(DMD):c.9804A>G (p.Gln3268=) rs12690372 0.00027
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_144672.4(OTOA):c.921G>A (p.Ala307=) rs12051473 0.00027
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203 0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) rs200306870 0.00025
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 0.00024
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_002578.5(PAK3):c.601-10G>T rs185674324 0.00023
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val) rs528149001 0.00022
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_015294.6(TRIM37):c.2577-7C>G rs199694001 0.00021
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631 0.00020
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00020
NM_004006.3(DMD):c.1809G>A (p.Leu603=) rs192176661 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala) rs76345011 0.00020
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser) rs142132973 0.00020
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=) rs376753331 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00018
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310 0.00018
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_001111.5(ADAR):c.2496+9G>A rs199698434 0.00017
NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys) rs143423231 0.00017
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775 0.00017
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960 0.00016
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met) rs114511558 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004817.4(TJP2):c.375C>T (p.Ala125=) rs181450555 0.00014
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) rs139378224 0.00013
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=) rs773886758 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) rs192464868 0.00012
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523 0.00011
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro) rs181395238 0.00011
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) rs115297652 0.00011
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) rs146432734 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00010
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=) rs200992636 0.00009
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val) rs200239695 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) rs117157204 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006059.4(LAMC3):c.4068G>A (p.Ala1356=) rs377618961 0.00008
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00008
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938 0.00008
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007
NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) rs534045685 0.00007
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val) rs552158003 0.00006
NM_025265.4(TSEN2):c.870A>G (p.Pro290=) rs542708828 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_012470.4(TNPO3):c.2431-6A>C rs190759031 0.00005
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000744.7(CHRNA4):c.383+7C>T rs200690355 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701 0.00004
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00004
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_001367721.1(CASK):c.1669-9C>A rs562152407 0.00003
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=) rs780149034 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888 0.00003
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=) rs144488384 0.00003
NM_130837.3(OPA1):c.448+50A>G rs377239493 0.00003
NM_139343.3(BIN1):c.1003-16C>T rs547659375 0.00003
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) rs549882307 0.00003
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000452.3(SLC10A2):c.190C>T (p.Arg64Trp) rs142620512 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702 0.00002
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser) rs774823793 0.00002
NM_006059.4(LAMC3):c.3624G>A (p.Glu1208=) rs569440839 0.00002
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00002
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520 0.00001
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 0.00001
NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg) rs530742766 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_006790.3(MYOT):c.630G>A (p.Ser210=) rs375308029 0.00001
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888 0.00001
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) rs554680915 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=) rs571386763 0.00001
NM_181332.3(NLGN4X):c.2223C>T (p.His741=) rs541646409 0.00001
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_000023.4(SGCA):c.38-46G>C rs142537375
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000231.3(SGCG):c.196-6dup rs568365779
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+9_1947+10insC rs1555634683
NM_000277.3(PAH):c.510-20_510-18dup rs398123293
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000381.4(MID1):c.661-7dup rs375668839
NM_000381.4(MID1):c.661-8_661-7del rs375668839
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) rs3740066
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.4(LAMA2):c.5072-6del rs398123376
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000443.4(ABCB4):c.3486+10dup rs8187809
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) rs2001345
NM_000523.4(HOXD13):c.183_191del (p.Ala69_Ala71del) rs749930395
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000531.6(OTC):c.299-8del rs764551624
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.706-6_706-4del rs60794673
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000660.7(TGFB1):c.1010G>C (p.Ser337Thr) rs199699574
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.996-33dup rs3217385
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000843.4(GRM6):c.727G>T (p.Val243Phe) rs17078894
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) rs534091900
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.6472+15_6472+16insC rs149021782
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001079872.2(CUL4B):c.1257-9dup rs746854249
NM_001083961.2(WDR62):c.1233+15dup rs373693641
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del) rs794727435
NM_001100.4(ACTA1):c.809-18dup rs398123565
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.660G>T (p.Ser220=) rs201835322
NM_001159699.2(FHL1):c.737-9dup rs374867802
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164508.2(NEB):c.11077-5del rs749915004
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1]) rs377452683
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys) rs3784587
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser) rs35212576
NM_001267550.2(TTN):c.100766-11_100766-10del 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.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.26762-39TTTGT[10] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) rs147418835
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs) rs369839371
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del) rs3217229
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr) rs2032582
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001349338.3(FOXP1):c.1146+10_1146+12del rs199543140
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001379110.1(SLC9A6):c.*5_*8delinsTT rs797044655
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del) rs561144747
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del) rs398123612
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001701.4(BAAT):c.602G>A (p.Arg201His) rs41281027
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001848.3(COL6A1):c.1002+50C>A rs11702079
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.428+39C>G rs148766287
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2]) rs544133282
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.671-5C>A rs180841797
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_003019.5(SFTPD):c.199+9G>A rs6413522
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003289.4(TPM2):c.300C>T (p.Asp100=) rs532190742
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003322.6(TULP1):c.371_394del (p.Asp124_Glu131del) rs281865169
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del) rs780334086
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr) rs398123879
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) rs3832799
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del) rs71369530
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_005045.4(RELN):c.-24GGC[4] rs55656324
NM_005045.4(RELN):c.1290-3dup rs146986040
NM_005045.4(RELN):c.5211-7dup rs34125550
NM_005045.4(RELN):c.5211-9_5211-7del rs34125550
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_006059.4(LAMC3):c.2438_2439delinsAG (p.Ser813Lys) rs386738959
NM_006059.4(LAMC3):c.521_522delinsAG (p.Pro174Gln) rs386738954
NM_006086.4(TUBB3):c.167-5C>G rs147928399
NM_006208.3(ENPP1):c.313+9del rs377330284
NM_006214.4(PHYH):c.415-11dup rs140309981
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006517.5(SLC16A2):c.-114GGCAGC[2] rs760787234
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_007078.3(LDB3):c.896+6669TC[12] rs71019410
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007214.5(SEC63):c.340-12_340-7delinsCCC rs1554237221
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC rs1554237221
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014008.5(CCDC22):c.747= (p.Gln249=) rs2294020
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014491.3(FOXP2):c.618_620dupGCA
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del) rs398124272
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014920.5(CILK1):c.1106_1117del (p.Pro369_Leu372del) rs201964851
NM_014920.5(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_014920.5(CILK1):c.831+5del rs200780900
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_019109.5(ALG1):c.390+13C>A rs62036244
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del) rs557068877
NM_020822.3(KCNT1):c.2944-52CTCC[7] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[8] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022436.3(ABCG5):c.501+11dup rs200655485
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022458.4(LMBR1):c.528C>G (p.Ala176=) rs138255184
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) rs794728017
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.18433-5del rs35858094
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) rs750165040
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=) rs2259136
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.17203-6dup rs55633181
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_198506.5(LRIT3):c.1184CTT[1] (p.Ser396del) rs794727660
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly) rs79039619
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_201384.3(PLEC):c.10296C>A (p.Ala3432=) rs201848957
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=) rs201552166
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln) rs201430180
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) rs202190540
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg) rs1801257
NM_206883.2(SLC26A5):c.292+8_292+9dup rs112791865
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
Single allele

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