ClinVar Miner

List of variants reported as not provided by GenomeConnect, ClinGen

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ClinVar version:
Total variants: 2294
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.78G>A (p.Arg26=) rs1802645 0.99723
NM_002661.5(PLCG2):c.2055-8T>C rs12448130 0.99057
NM_153460.4(IL17RC):c.2133C>G (p.Gly711=) rs183956 0.98560
NM_006904.7(PRKDC):c.1623+6A>G rs1231202 0.96352
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_006254.4(PRKCD):c.1857T>C (p.Pro619=) rs900495 0.94337
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=) rs1075865 0.93819
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450 0.92386
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu) rs17617 0.88540
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87959
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_198282.4(STING1):c.695A>G (p.His232Arg) rs1131769 0.87015
NM_000631.5(NCF4):c.758+57T>C rs2075939 0.86715
NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln) rs1043730 0.85701
NM_001572.5(IRF7):c.327G>A (p.Arg109=) rs1061501 0.84827
NM_005263.5(GFI1):c.465C>T (p.Cys155=) rs11164605 0.84576
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.84205
NM_001364905.1(LRBA):c.4569+9C>T rs186080 0.83135
NM_005101.4(ISG15):c.294A>G (p.Val98=) rs8997 0.83017
NM_014339.7(IL17RA):c.932-10C>T rs2241046 0.81871
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293 0.81820
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001122681.2(SH3BP2):c.300T>C (p.His100=) rs3213501 0.79911
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_002029.4(FPR1):c.32T>C (p.Ile11Thr) rs5030878 0.78476
NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=) rs1061040 0.77937
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_021803.4(IL21):c.234C>T (p.Cys78=) rs4833837 0.76501
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=) rs2306574 0.75510
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_003954.5(MAP3K14):c.2706C>G (p.Val902=) rs1047833 0.74340
NM_001558.4(IL10RA):c.1051A>G (p.Arg351Gly) rs2229113 0.73756
NM_182916.3(TRNT1):c.948A>G (p.Ala316=) rs1705805 0.73295
NM_002661.5(PLCG2):c.1497C>T (p.Ala499=) rs1143689 0.72851
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_182919.4(TICAM1):c.12A>G (p.Thr4=) rs7255265 0.72359
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_080424.4(SP110):c.895G>A (p.Gly299Arg) rs1365776 0.71538
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_032492.4(JAGN1):c.96T>C (p.Thr32=) rs279553 0.69356
NM_000101.4(CYBA):c.521T>C (p.Val174Ala) rs1049254 0.68722
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_002661.5(PLCG2):c.174T>C (p.Ala58=) rs1143685 0.68306
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_007074.4(CORO1A):c.336A>G (p.Pro112=) rs1132812 0.67557
NM_001083116.3(PRF1):c.900C>T (p.His300=) rs885822 0.67032
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_000626.4(CD79B):c.366T>C (p.Cys122=) rs2070776 0.64196
NM_004371.4(COPA):c.363C>T (p.Asn121=) rs1802778 0.63518
NM_001199138.2(NLRC4):c.1824C>T (p.Ala608=) rs455060 0.63173
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_001364905.1(LRBA):c.7849+10A>G rs1813134 0.62993
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) rs2229857 0.61729
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) rs6058891 0.59749
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) rs2424922 0.59732
NM_003183.6(ADAM17):c.1824T>C (p.Ser608=) rs1048610 0.59724
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg) rs2071888 0.59589
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_001199138.2(NLRC4):c.543A>C (p.Arg181=) rs408813 0.58740
NM_152468.5(TMC8):c.1107G>A (p.Glu369=) rs12452890 0.58602
NM_006892.4(DNMT3B):c.1906-5T>C rs2424928 0.58051
NM_003982.4(SLC7A7):c.159G>A (p.Ser53=) rs1805059 0.57983
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_006892.4(DNMT3B):c.1760-5C>G rs1997797 0.55509
NM_152468.5(TMC8):c.917A>T (p.Asn306Ile) rs7208422 0.55328
NM_032415.7(CARD11):c.3276A>G (p.Arg1092=) rs1124581 0.54386
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_003982.4(SLC7A7):c.498T>C (p.Ile166=) rs8018462 0.53238
NM_198282.4(STING1):c.144G>C (p.Val48=) rs7447927 0.52424
NM_153460.4(IL17RC):c.332C>T (p.Ser111Leu) rs708567 0.51321
NM_032790.4(ORAI1):c.798T>C (p.Thr266=) rs3825175 0.50916
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_001558.4(IL10RA):c.459A>G (p.Ala153=) rs2256111 0.50461
NM_001330588.2(TPP2):c.780T>C (p.Ser260=) rs2230854 0.50210
NM_001330588.2(TPP2):c.620+10G>A rs4576935 0.50076
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) rs7210574 0.49757
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=) rs11078355 0.48964
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_004946.3(DOCK2):c.2727G>A (p.Gln909=) rs261623 0.46437
NM_001174147.2(LMX1B):c.441A>G (p.Glu147=) rs2277158 0.45698
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg) rs2274064 0.45154
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_000101.4(CYBA):c.203+8T>C rs4782393 0.44118
NM_001282225.2(ADA2):c.159C>T (p.Asn53=) rs362129 0.43592
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=) rs2304891 0.43325
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) rs10001 0.43223
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_006949.4(STXBP2):c.38-7C>T rs8104339 0.42983
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_004946.3(DOCK2):c.3612C>T (p.Thr1204=) rs3763048 0.42784
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_001290043.2(TAP2):c.1636-10T>C rs241436 0.42321
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_004946.3(DOCK2):c.3468-4G>A rs3763047 0.41818
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=) rs13295990 0.41484
NM_001111.5(ADAR):c.3443+8G>A rs9427094 0.40966
NM_004946.3(DOCK2):c.3456C>G (p.Leu1152=) rs9791113 0.40563
NM_001366385.1(CARD14):c.2399-4A>G rs11653893 0.40359
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp) rs11652075 0.39960
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_002661.5(PLCG2):c.3093T>C (p.Asn1031=) rs1071644 0.39075
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_005101.4(ISG15):c.248G>A (p.Ser83Asn) rs1921 0.38885
NM_001369369.1(FOXN1):c.1795G>C (p.Ala599Pro) rs532648 0.38842
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_001875.5(CPS1):c.3405-29A>T rs3213784 0.37981
NM_172245.4(CSF2RA):c.999G>A (p.Val333=) rs28460440 0.37040
NM_002029.4(FPR1):c.301G>C (p.Val101Leu) rs2070745 0.36919
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=) rs231402 0.36399
NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser) rs2066964 0.35511
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NM_001572.5(IRF7):c.535A>G (p.Lys179Glu) rs1061502 0.33801
NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) rs1131665 0.33779
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_004946.3(DOCK2):c.4896T>C (p.Arg1632=) rs1045168 0.32381
NM_001366385.1(CARD14):c.676-6G>A rs28674001 0.31201
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_002029.4(FPR1):c.546C>A (p.Pro182=) rs2070746 0.30428
NM_014339.7(IL17RA):c.1100C>T (p.Ala367Val) rs879577 0.29184
NM_001282225.2(ADA2):c.1359T>C (p.Tyr453=) rs7289170 0.28593
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val) rs3194051 0.28365
NM_001111.5(ADAR):c.15+10G>T rs58655370 0.27999
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=) rs3192177 0.27555
NM_001282225.2(ADA2):c.1240-5C>G rs3764846 0.27480
NM_003265.3(TLR3):c.1377C>T (p.Phe459=) rs3775290 0.27189
NM_001290043.2(TAP2):c.608+7G>A rs2071466 0.26274
NM_014339.7(IL17RA):c.2160C>T (p.Pro720=) rs4819555 0.25992
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) rs8192696 0.24916
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=) rs10814431 0.24804
NM_020529.3(NFKBIA):c.81C>T (p.Asp27=) rs1957106 0.24766
NM_001875.5(CPS1):c.3756+45C>T rs6435580 0.24723
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_001290043.2(TAP2):c.1158G>T (p.Gly386=) rs2228397 0.24300
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857 0.24099
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_004946.3(DOCK2):c.3195A>C (p.Leu1065=) rs2287727 0.23497
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=) rs913703 0.23408
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) rs34436714 0.22387
NM_153460.4(IL17RC):c.1047C>T (p.Asn349=) rs279548 0.22119
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000417.3(IL2RA):c.367+7G>C rs11256369 0.20897
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_014339.7(IL17RA):c.1458C>T (p.Ile486=) rs879575 0.20567
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_199242.3(UNC13D):c.1992+5G>A rs17581728 0.19407
NM_003982.4(SLC7A7):c.660T>C (p.Gly220=) rs1805061 0.18661
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_004946.3(DOCK2):c.844-4C>A rs3734099 0.17712
NM_020458.4(TTC7A):c.798G>A (p.Glu266=) rs17480869 0.17316
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_004946.3(DOCK2):c.1212C>A (p.Thr404=) rs2112703 0.16933
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_001083116.3(PRF1):c.822C>T (p.Ala274=) rs885821 0.16394
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_001369369.1(FOXN1):c.1135+8C>T rs2286521 0.15430
NM_032790.4(ORAI1):c.546C>T (p.Ile182=) rs3741595 0.14694
NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile) rs1800454 0.14502
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=) rs11914 0.12487
NM_014017.4(LAMTOR2):c.111C>T (p.Tyr37=) rs7541 0.11940
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_002029.4(FPR1):c.568A>T (p.Arg190Trp) rs5030880 0.11833
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) rs3209441 0.11431
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn) rs33980500 0.09825
NM_001369369.1(FOXN1):c.852T>C (p.Leu284=) rs12449554 0.08836
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354 0.08679
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_001369369.1(FOXN1):c.205C>T (p.Arg69Cys) rs2071587 0.07832
NM_000448.3(RAG1):c.2880A>G (p.Ala960=) rs1980131 0.07643
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=) rs1056990 0.06020
NM_000417.3(IL2RA):c.516C>T (p.His172=) rs2228149 0.05507
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05162
NM_147686.4(TRAF3IP2):c.220C>T (p.Arg74Trp) rs13190932 0.05042
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_004946.3(DOCK2):c.843+7G>A rs72841138 0.04984
NM_004946.3(DOCK2):c.2352A>G (p.Gln784=) rs13155521 0.04295
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn) rs34631763 0.04129
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603 0.03712
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn) rs17860502 0.03121
NM_052872.4(IL17F):c.463G>A (p.Val155Ile) rs11465553 0.03070
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_002115.3(HK3):c.841G>A (p.Gly281Arg) rs35610191 0.02557
NM_004371.4(COPA):c.1741C>T (p.Leu581=) rs79304843 0.02550
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser) rs111417655 0.02275
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_176869.3(PPA2):c.64A>G (p.Thr22Ala) rs35571699 0.02096
NM_001849.4(COL6A2):c.*56T>G rs148337125 0.01837
NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His) rs72875762 0.01764
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_002004.4(FDPS):c.1091T>C (p.Val364Ala) rs41314549 0.01641
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_018035.3(DMAC2):c.688G>A (p.Glu230Lys) rs2231943 0.01583
NM_012241.5(SIRT5):c.857+3529A>T rs41273886 0.01542
NM_152558.5(IQCE):c.212G>A (p.Arg71Gln) rs61736920 0.01521
NM_018060.4(IARS2):c.23G>T (p.Arg8Leu) rs149324758 0.01481
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398 0.01351
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_004006.3(DMD):c.7310-36C>T rs72466586 0.01045
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile) rs188718836 0.01018
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) rs60782127 0.00769
NM_014889.4(PITRM1):c.2647C>T (p.Leu883Phe) rs71477812 0.00759
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys) rs182257230 0.00733
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816 0.00631
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_198529.4(EFCAB5):c.42+1G>A rs201197242 0.00559
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_002562.6(P2RX7):c.125+1G>T rs35933842 0.00535
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078 0.00503
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp) rs137852860 0.00490
NM_017888.3(ACSM5):c.1157A>C (p.Lys386Thr) rs148243446 0.00490
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_182588.3(RGPD4):c.1335G>A (p.Trp445Ter) rs1306583979 0.00444
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp) rs143417446 0.00443
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NR_163193.1(TCP10):n.1018G>A rs140649985 0.00424
NM_006618.5(KDM5B):c.4145G>A (p.Arg1382Gln) rs34216958 0.00411
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001145004.2(GOLGA6L6):c.2038T>G (p.Trp680Gly) rs4932676 0.00383
NM_001145263.2(NCOA4):c.1340A>G (p.Lys447Arg) rs61754798 0.00371
NM_020117.11(LARS1):c.3077A>G (p.Tyr1026Cys) rs34823161 0.00369
NM_153460.4(IL17RC):c.952G>A (p.Ala318Thr) rs145516404 0.00366
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg) rs35378785 0.00362
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NR_163193.1(TCP10):n.943C>T rs200948850 0.00350
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met) rs140760439 0.00337
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_030930.4(UNC93B1):c.393-10C>T rs117183629 0.00314
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_033540.3(MFN1):c.677G>A (p.Arg226Gln) rs143476739 0.00265
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_014611.3(MDN1):c.16547C>T (p.Ala5516Val) rs34750131 0.00257
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001036.6(RYR3):c.7812C>G (p.Asn2604Lys) rs41279214 0.00237
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) rs140107023 0.00213
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_206967.3(C16orf74):c.84_103del (p.Asn29fs) rs767753044 0.00200
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_152781.4(HEATR9):c.400C>T (p.Arg134Ter) rs116191233 0.00190
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln) rs35852786 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_001036.6(RYR3):c.6617A>C (p.Asn2206Thr) rs181264765 0.00150
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892 0.00150
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser) rs61756286 0.00127
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp) rs138675420 0.00118
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263 0.00116
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_001374675.1(HSF4):c.925C>G (p.Leu309Val) rs201430635 0.00115
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_004563.4(PCK2):c.1468+2T>C rs148019349 0.00110
NM_001144978.3(MTHFD2L):c.482G>A (p.Gly161Glu) rs144442266 0.00109
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu) rs62542664 0.00104
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_001163435.3(TBCK):c.974T>C (p.Val325Ala) rs145386125 0.00103
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys) rs1537044 0.00102
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_025233.7(COASY):c.-1C>T rs147852474 0.00096
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_032683.3(MPV17L2):c.32G>A (p.Arg11His) rs186786292 0.00094
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_017909.4(RMND1):c.1085G>A (p.Arg362His) rs142588921 0.00091
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln) rs144994895 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_003764.4(STX11):c.616G>A (p.Glu206Lys) rs145347140 0.00086
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn) rs61056448 0.00086
NM_004104.5(FASN):c.1850C>T (p.Pro617Leu) rs45444391 0.00085
NM_018122.5(DARS2):c.128-5T>A rs200078808 0.00084
NM_032380.5(GFM2):c.1984T>A (p.Ser662Thr) rs141789665 0.00084
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361 0.00081
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00080
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) rs201827537 0.00078
NM_006294.5(UQCRB):c.249A>C (p.Lys83Asn) rs145828292 0.00078
NM_019030.4(DHX29):c.629A>G (p.Tyr210Cys) rs149543515 0.00078
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00066
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_001085411.3(NADK2):c.1225A>G (p.Met409Val) rs62353845 0.00061
NM_032776.3(JMJD1C):c.1120G>C (p.Asp374His) rs200016210 0.00061
NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr) rs150984011 0.00061
NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu) rs143883830 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
NM_021930.6(RINT1):c.388G>A (p.Ala130Thr) rs138345617 0.00060
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) rs200160858 0.00052
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
NM_000755.5(CRAT):c.830G>A (p.Arg277His) rs146338921 0.00051
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) rs150819707 0.00051
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013 0.00049
NM_052850.4(GADD45GIP1):c.26G>A (p.Arg9His) rs375539782 0.00049
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016 0.00049
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val) rs140126185 0.00047
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) rs142143310 0.00046
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_173630.4(RTTN):c.2255C>T (p.Pro752Leu) rs35424122 0.00043
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
NM_007208.4(MRPL3):c.1033A>G (p.Ile345Val) rs143176048 0.00041
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) rs138594222 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) rs140334007 0.00039
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser) rs183981750 0.00039
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_001036.6(RYR3):c.9581G>A (p.Arg3194His) rs377341748 0.00037
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) rs150950017 0.00036
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_032620.4(GTPBP3):c.1057G>A (p.Val353Ile) rs77401427 0.00036
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_001770.6(CD19):c.527C>T (p.Pro176Leu) rs148200569 0.00033
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile) rs151294087 0.00032
NM_004589.4(SCO1):c.5C>A (p.Ala2Glu) rs147487151 0.00032
NM_138995.5(MYO3B):c.800A>G (p.Asn267Ser) rs34509373 0.00032
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_004688.3(NMI):c.912C>A (p.Tyr304Ter) rs150664393 0.00031
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_001036.6(RYR3):c.9799C>T (p.Pro3267Ser) rs182972491 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_004104.5(FASN):c.6155G>C (p.Gly2052Ala) rs780846548 0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_007046.4(EMILIN1):c.1781G>A (p.Arg594His) rs200339477 0.00027
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr) rs142264176 0.00026
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125 0.00026
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_002386.4(MC1R):c.652G>A (p.Ala218Thr) rs200965363 0.00025
NM_003850.3(SUCLA2):c.1270G>A (p.Gly424Arg) rs144441199 0.00025
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile) rs148592477 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys) rs117802902 0.00025
NM_018685.5(ANLN):c.31C>T (p.Arg11Ter) rs200989750 0.00025
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) rs200635860 0.00025
NM_144991.3(TSPEAR):c.542+15G>A rs587599565 0.00025
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) rs148368084 0.00025
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu) rs151078477 0.00024
NM_001278669.2(NFATC1):c.860C>T (p.Pro287Leu) rs200533002 0.00024
NM_001322934.2(NFKB2):c.1972C>T (p.Arg658Trp) rs200373995 0.00024
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser) rs77973158 0.00024
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479 0.00022
NM_020925.4(CACHD1):c.293G>A (p.Arg98His) rs201614737 0.00022
NM_022915.5(MRPL44):c.496G>A (p.Val166Met) rs141821599 0.00022
NM_138395.4(MARS2):c.697A>G (p.Ile233Val) rs150082953 0.00022
NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val) rs200854148 0.00022
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His) rs143103435 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_019078.2(UGT1A5):c.695del (p.Ala232fs) rs369685158 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) rs148693111 0.00021
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_021228.3(SCAF1):c.457G>T (p.Ala153Ser) rs138792343 0.00020
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 0.00019
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794 0.00019
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392 0.00019
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly) rs148668081 0.00019
NM_030928.4(CDT1):c.1154G>A (p.Arg385His) rs143840572 0.00019
NM_033343.4(LHX4):c.1052C>T (p.Thr351Met) rs200119009 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_198443.2(NRN1L):c.345C>A (p.Cys115Ter) rs143671493 0.00019
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000054.7(AVPR2):c.797T>C (p.Val266Ala) rs111643041 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=) rs372149429 0.00017
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) rs367867460 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) rs200206944 0.00016
NM_005245.4(FAT1):c.9095T>C (p.Ile3032Thr) rs34805028 0.00016
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu) rs147140948 0.00016
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_052867.4(NALCN):c.2307T>G (p.His769Gln) rs147070169 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_138441.3(CGAS):c.265_266dup (p.Gln89fs) rs749545076 0.00016
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu) rs560475969 0.00016
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile) rs139633130 0.00015
NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser) rs770149701 0.00015
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_024721.5(ZFHX4):c.5362G>A (p.Val1788Ile) rs200415399 0.00015
NM_000145.4(FSHR):c.1669C>T (p.Arg557Trp) rs374191266 0.00014
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) rs370971334 0.00014
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_001002913.3(PTRH1):c.20T>C (p.Leu7Ser) rs538247883 0.00014
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829 0.00014
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_004606.5(TAF1):c.235+3G>A rs368024152 0.00014
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val) rs184647895 0.00014
NM_014008.5(CCDC22):c.1402C>G (p.Arg468Gly) rs781907239 0.00014
NM_178862.3(STT3B):c.895A>G (p.Ile299Val) rs141238380 0.00014
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_001365276.2(TNXB):c.5491G>A (p.Val1831Met) rs188124424 0.00013
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) rs183942200 0.00013
NM_002907.4(RECQL):c.86C>T (p.Thr29Met) rs145067169 0.00013
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His) rs571684398 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006996.3(SLC19A2):c.319A>G (p.Ser107Gly) rs113927216 0.00013
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00013
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val) rs765812659 0.00012
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) rs373059256 0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953 0.00012
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_000093.5(COL5A1):c.5136+73G>A rs560195385 0.00011
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) rs201062001 0.00011
NM_001304993.2(SDSL):c.360G>A (p.Trp120Ter) rs200347609 0.00011
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val) rs377554134 0.00011
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) rs200672892 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_007315.4(STAT1):c.274-4C>G rs377209172 0.00011
NM_201384.3(PLEC):c.2165C>T (p.Ala722Val) rs375178454 0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000306.4(POU1F1):c.40C>G (p.Pro14Ala) rs200873915 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001083614.2(EARS2):c.164G>A (p.Arg55His) rs770862902 0.00010
NM_001939.3(DRP2):c.1927G>A (p.Ala643Thr) rs774673009 0.00010
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_003465.3(CHIT1):c.1125C>A (p.Tyr375Ter) rs149987600 0.00010
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys) rs757541406 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_015937.6(PIGT):c.988C>T (p.Arg330Ter) rs201317502 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_133259.4(LRPPRC):c.2610G>C (p.Glu870Asp) rs139192988 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp) rs782544250 0.00010
NM_212482.4(FN1):c.5651A>G (p.Tyr1884Cys) rs199890235 0.00010
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000718.4(CACNA1B):c.6749C>T (p.Pro2250Leu) rs202102427 0.00009
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met) rs537292240 0.00009
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001394065.1(CCDC190):c.88C>T (p.Gln30Ter) rs756079140 0.00009
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_005559.4(LAMA1):c.1274G>C (p.Gly425Ala) rs368665310 0.00009
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn) rs777718986 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001131016.2(CIZ1):c.2032-138A>G rs759174857 0.00008
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) rs200698641 0.00008
NM_006922.4(SCN3A):c.3589A>G (p.Lys1197Glu) rs530839611 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_020442.6(VARS2):c.1850C>T (p.Thr617Met) rs367837827 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter) rs371465450 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile) rs201141245 0.00007
NM_002905.5(RDH5):c.190G>A (p.Gly64Arg) rs753970388 0.00007
NM_005262.3(GFER):c.586C>T (p.Arg196Cys) rs370475970 0.00007
NM_006248.4(PRB2):c.511C>T (p.Arg171Ter) rs201606820 0.00007
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) rs104894425 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_153700.2(STRC):c.379C>T (p.Arg127Ter) rs771264491 0.00007
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu) rs369449324 0.00007
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His) rs568986390 0.00006
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) rs368349321 0.00006
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln) rs760572086 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001105206.3(LAMA4):c.1960-3T>C rs373682270 0.00006
NM_001199267.2(DGKZ):c.554G>A (p.Arg185Gln) rs372061661 0.00006
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu) rs551063889 0.00006
NM_001367479.1(DNAH14):c.11777-2A>G rs984710416 0.00006
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_001723.7(DST):c.6449A>G (p.Lys2150Arg) rs755587547 0.00006
NM_001747.4(CAPG):c.454G>T (p.Glu152Ter) rs142762000 0.00006
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174 0.00006
NM_002317.7(LOX):c.741T>G (p.Ser247Arg) rs768419742 0.00006
NM_002529.4(NTRK1):c.470G>A (p.Arg157His) rs141021604 0.00006
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_002693.3(POLG):c.2601T>C (p.Pro867=) rs201749977 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003480.4(MFAP5):c.355G>A (p.Val119Ile) rs192822432 0.00006
NM_004525.3(LRP2):c.2540G>A (p.Arg847His) rs537125368 0.00006
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe) rs542398089 0.00006
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg) rs200137805 0.00006
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His) rs753924410 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_016011.5(MECR):c.830+2dup rs756421370 0.00006
NM_017755.6(NSUN2):c.2026G>A (p.Val676Ile) rs773052587 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400 0.00006
NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe) rs556988328 0.00006
NM_021098.3(CACNA1H):c.5608G>A (p.Ala1870Thr) rs375010790 0.00006
NM_058216.3(RAD51C):c.967T>C (p.Leu323=) rs747727600 0.00006
NM_130837.3(OPA1):c.1877G>A (p.Arg626His) rs140606054 0.00006
NM_144687.4(NLRP12):c.1027C>T (p.Arg343Trp) rs112159191 0.00006
NM_172369.5(C1QC):c.538G>A (p.Val180Met) rs200292688 0.00006
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00006
NM_198576.4(AGRN):c.5416C>T (p.Arg1806Trp) rs757150379 0.00006
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 0.00005
NM_000292.3(PHKA2):c.2137+5G>A rs372314504 0.00005
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558 0.00005
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro) rs199764020 0.00005
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr) rs201996851 0.00005
NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp) rs200896834 0.00005
NM_014370.4(SRPK3):c.1337T>G (p.Ile446Ser) rs1557068452 0.00005
NM_014611.3(MDN1):c.4613A>C (p.Asn1538Thr) rs202131758 0.00005
NM_015937.6(PIGT):c.918dup (p.Val307fs) rs751861982 0.00005
NM_018006.5(TRMU):c.880C>T (p.Arg294Trp) rs773745635 0.00005
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559 0.00005
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu) rs368742778 0.00005
NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr) rs766962416 0.00005
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln) rs531178000 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283 0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_000455.5(STK11):c.316C>T (p.Arg106Trp) rs587782115 0.00004
NM_000501.4(ELN):c.92G>A (p.Gly31Glu) rs782625771 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000593.6(TAP1):c.1564C>T (p.Gln522Ter) rs967210854 0.00004
NM_000692.5(ALDH1B1):c.319C>T (p.Arg107Cys) rs770857076 0.00004
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His) rs750153892 0.00004
NM_001042545.2(LTBP4):c.4024G>A (p.Ala1342Thr) rs370362292 0.00004
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246 0.00004
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 0.00004
NM_001206744.2(TPO):c.387del (p.Asn129fs) rs766399662 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036 0.00004
NM_001291303.3(FAT4):c.9235A>G (p.Ile3079Val) rs138817920 0.00004
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser) rs765069829 0.00004
NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr) rs565501407 0.00004
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358 0.00004
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_002485.5(NBN):c.721G>A (p.Ala241Thr) rs587781333 0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser) rs373445028 0.00004
NM_003721.4(RFXANK):c.639C>T (p.Gly213=) rs745918077 0.00004
NM_003848.4(SUCLG2):c.1082A>G (p.Asn361Ser) rs746196486 0.00004
NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu) rs202053091 0.00004
NM_004972.4(JAK2):c.2571+5A>C rs775085241 0.00004
NM_005422.4(TECTA):c.4180C>A (p.Leu1394Met) rs776389341 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_007250.5(KLF8):c.646+3A>G rs758595312 0.00004
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala) rs145466894 0.00004
NM_014141.6(CNTNAP2):c.1385G>A (p.Arg462His) rs774717843 0.00004
NM_014844.5(TECPR2):c.1327A>G (p.Arg443Gly) rs199977652 0.00004
NM_016077.5(PTRH2):c.101G>A (p.Arg34Gln) rs763600816 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_017825.3(ADPRS):c.340_341del (p.Arg114fs) rs768832709 0.00004
NM_017827.4(SARS2):c.694C>T (p.Arg232Cys) rs201347156 0.00004
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys) rs750459659 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 0.00004
NM_033109.5(PNPT1):c.745G>A (p.Val249Met) rs774197508 0.00004
NM_053274.3(GLMN):c.978-4T>C rs750401776 0.00004
NM_201384.3(PLEC):c.265-9T>G rs376483549 0.00004
NM_203447.4(DOCK8):c.2971-5C>T rs373718659 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000047.3(ARSL):c.23G>C (p.Cys8Ser) rs1057521599 0.00003
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp) rs374278186 0.00003
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val) rs587782662 0.00003
NM_000507.4(FBP1):c.541G>A (p.Gly181Arg) rs1372801499 0.00003
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His) rs770609243 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_000821.7(GGCX):c.763G>A (p.Val255Met) rs121909683 0.00003
NM_001031679.3(MSRB3):c.80C>T (p.Ser27Leu) rs370812570 0.00003
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001163809.2(WDR81):c.626C>A (p.Pro209His) rs200343855 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001256317.3(TMPRSS3):c.566A>T (p.Tyr189Phe) rs781338726 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001349253.2(SCN11A):c.5051A>T (p.Asp1684Val) rs370826330 0.00003
NM_001365999.1(SZT2):c.4054G>T (p.Gly1352Cys) rs147607647 0.00003
NM_001371623.1(TCOF1):c.1598C>T (p.Thr533Ile) rs377521530 0.00003
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val) rs751251720 0.00003
NM_001822.7(CHN1):c.1301C>T (p.Ala434Val) rs778517881 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_002905.5(RDH5):c.285G>A (p.Trp95Ter) rs774122562 0.00003
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648 0.00003
NM_003805.5(CRADD):c.503G>A (p.Arg168Gln) rs563879626 0.00003
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr) rs1416942996 0.00003
NM_004946.3(DOCK2):c.1288C>G (p.Leu430Val) rs370264550 0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_006231.4(POLE):c.1676G>A (p.Arg559Gln) rs766276875 0.00003
NM_006231.4(POLE):c.3377C>T (p.Ala1126Val) rs373707446 0.00003
NM_014974.3(DIP2C):c.692G>A (p.Arg231Gln) rs756894472 0.00003
NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn) rs754470891 0.00003
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_016138.5(COQ7):c.446A>G (p.Tyr149Cys) rs760710474 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_020297.4(ABCC9):c.4535C>T (p.Thr1512Met) rs554811993 0.00003
NM_020318.3(PAPPA2):c.1732C>T (p.Arg578Ter) rs375941290 0.00003
NM_020746.5(MAVS):c.1189G>A (p.Ala397Thr) rs778085486 0.00003
NM_020921.4(NIN):c.5275T>C (p.Ser1759Pro) rs201212734 0.00003
NM_020925.4(CACHD1):c.3244+3A>G rs750499224 0.00003
NM_020975.6(RET):c.1737C>G (p.Asn579Lys) rs144455821 0.00003
NM_022089.4(ATP13A2):c.*24C>T rs375521810 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_024422.6(DSC2):c.1663+4A>G rs369849387 0.00003
NM_024678.6(NARS2):c.595-6T>G rs774848576 0.00003
NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu) rs778010676 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) rs761283105 0.00003
NM_032634.4(PIGO):c.2092G>A (p.Glu698Lys) rs571768342 0.00003
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser) rs377047079 0.00003
NM_133497.4(KCNV2):c.148A>C (p.Asn50His) rs757537568 0.00003
NM_152305.3(POGLUT1):c.211G>A (p.Gly71Ser) rs1001425015 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) rs201128942 0.00003
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp) rs538101562 0.00003
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys) rs748016261 0.00002
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg) rs587782001 0.00002
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His) rs373653069 0.00002
NM_000102.4(CYP17A1):c.297+2T>C rs764723654 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000217.3(KCNA1):c.667A>G (p.Ile223Val) rs146948558 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp) rs747857800 0.00002
NM_000260.4(MYO7A):c.940G>A (p.Glu314Lys) rs782685774 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175 0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663 0.00002
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln) rs753932484 0.00002
NM_000553.6(WRN):c.3134A>G (p.Lys1045Arg) rs369095273 0.00002
NM_001006658.3(CR2):c.3239G>A (p.Arg1080Gln) rs768446701 0.00002
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met) rs767406620 0.00002
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216 0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met) rs876657994 0.00002
NM_001036.6(RYR3):c.10961C>T (p.Ala3654Val) rs1462103365 0.00002
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile) rs780958012 0.00002
NM_001079.4(ZAP70):c.342C>T (p.Val114=) rs1008750552 0.00002
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln) rs755829878 0.00002
NM_001160148.2(DDHD1):c.1277A>G (p.Lys426Arg) rs764461965 0.00002
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His) rs770527289 0.00002
NM_001164508.2(NEB):c.24040G>A (p.Val8014Ile) rs182325166 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001271803.2(REEP2):c.626C>G (p.Ala209Gly) rs149979144 0.00002
NM_001365276.2(TNXB):c.6805C>T (p.Gln2269Ter) rs749742731 0.00002
NM_001377.3(DYNC2H1):c.9037A>C (p.Ile3013Leu) rs1250296341 0.00002
NM_001470.4(GABBR1):c.1477G>C (p.Val493Leu) rs980473553 0.00002
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys) rs200167715 0.00002
NM_002506.3(NGF):c.146G>A (p.Arg49His) rs781072056 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_003361.4(UMOD):c.1919A>G (p.Gln640Arg) rs776685236 0.00002
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala) rs45509691 0.00002
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser) rs1453508139 0.00002
NM_004700.4(KCNQ4):c.1502C>T (p.Thr501Ile) rs200391496 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005198.5(CHKB):c.905A>T (p.Asp302Val) rs775547378 0.00002
NM_005462.5(MAGEC1):c.984_1086del (p.Ser328fs) rs1556442387 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_006231.4(POLE):c.5468G>A (p.Arg1823His) rs767747669 0.00002
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His) rs201852582 0.00002
NM_007325.5(GRIA3):c.609G>T (p.Arg203Ser) rs147567539 0.00002
NM_014208.3(DSPP):c.2525del (p.Ser842fs) rs1395922945 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_017514.5(PLXNA3):c.1985C>T (p.Thr662Met) rs1343189326 0.00002
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) rs121918207 0.00002
NM_020247.5(COQ8A):c.1717G>A (p.Asp573Asn) rs1026198961 0.00002
NM_020549.5(CHAT):c.1451G>A (p.Arg484Gln) rs771901229 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly) rs369132015 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_030653.4(DDX11):c.2635C>T (p.Arg879Ter) rs780059558 0.00002
NM_032409.3(PINK1):c.502G>C (p.Ala168Pro) rs768091663 0.00002
NM_145199.3(LIPT1):c.713A>G (p.Tyr238Cys) rs187886723 0.00002
NM_152891.3(PRSS33):c.531G>A (p.Trp177Ter) rs911248455 0.00002
NM_172107.4(KCNQ2):c.691-13G>A rs547887704 0.00002
NM_173728.4(ARHGEF15):c.1673A>C (p.Gln558Pro) rs924531335 0.00002
NM_175875.5(SIX5):c.1464C>G (p.Pro488=) rs753759460 0.00002
NM_205836.3(FBXO38):c.3362G>A (p.Arg1121Gln) rs149713669 0.00002
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn) rs786202728 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp) rs772992098 0.00001
NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg) rs397507280 0.00001
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) rs80358547 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His) rs80358685 0.00001
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg) rs587781418 0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940 0.00001
NM_000059.4(BRCA2):c.8527A>G (p.Asn2843Asp) rs876660403 0.00001
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys) rs72645341 0.00001
NM_000089.4(COL1A2):c.2958del (p.Val987fs) rs1064793527 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu) rs766941490 0.00001
NM_000090.4(COL3A1):c.101A>G (p.His34Arg) rs752110396 0.00001
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) rs376603102 0.00001
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340 0.00001
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353 0.00001
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698 0.00001
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518 0.00001
NM_000094.4(COL7A1):c.7078G>A (p.Gly2360Arg) rs916512411 0.00001
NM_000128.4(F11):c.1178C>T (p.Ala393Val) rs547842083 0.00001
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000153.4(GALC):c.1400C>A (p.Thr467Asn) rs750431739 0.00001
NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys) rs1482767334 0.00001
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys) rs587781510 0.00001
NM_000203.5(IDUA):c.1728-1G>C rs1249951282 0.00001
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr) rs864622093 0.00001
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile) rs587781996 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.4489A>T (p.Thr1497Ser) rs928227757 0.00001
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) rs771889662 0.00001
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu) rs751413984 0.00001
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu) rs748635133 0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551 0.00001
NM_000335.5(SCN5A):c.79C>T (p.Arg27Cys) rs746360906 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) rs1191799507 0.00001
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616 0.00001
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp) rs1449512324 0.00001
NM_000428.3(LTBP2):c.578C>T (p.Pro193Leu) rs1221770546 0.00001
NM_000465.4(BARD1):c.1990A>G (p.Arg664Gly) rs1064795138 0.00001
NM_000465.4(BARD1):c.614A>G (p.Lys205Arg) rs587782437 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000494.4(COL17A1):c.332-1G>A rs754289857 0.00001
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val) rs770625733 0.00001
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576 0.00001
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser) rs990842315 0.00001
NM_000540.3(RYR1):c.3200G>A (p.Arg1067His) rs377381782 0.00001
NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val) rs1374486975 0.00001
NM_000546.6(TP53):c.685T>C (p.Cys229Arg) rs1064794312 0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244 0.00001
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp) rs886039214 0.00001
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser) rs752355994 0.00001
NM_000827.4(GRIA1):c.1988C>T (p.Thr663Met) rs752447548 0.00001
NM_001003787.4(STRADA):c.1154G>A (p.Arg385His) rs751571199 0.00001
NM_001005498.4(RHBDF2):c.722G>A (p.Arg241His) rs149960669 0.00001
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr) rs1445523438 0.00001
NM_001033566.3(RHOT1):c.1862+29G>A rs995710160 0.00001
NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His) rs1203955457 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042545.2(LTBP4):c.4184G>A (p.Arg1395Gln) rs1032506558 0.00001
NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu) rs760578075 0.00001
NM_001083614.2(EARS2):c.334G>C (p.Ala112Pro) rs749048646 0.00001
NM_001084.5(PLOD3):c.560A>G (p.Asp187Gly) rs929219335 0.00001
NM_001098.3(ACO2):c.172C>T (p.Arg58Ter) rs751460831 0.00001
NM_001098.3(ACO2):c.183G>A (p.Arg61=) rs773989143 0.00001
NM_001098.3(ACO2):c.590A>G (p.Asn197Ser) rs1034483010 0.00001
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn) rs781879374 0.00001
NM_001130823.3(DNMT1):c.2791G>A (p.Glu931Lys) rs767511749 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001148.6(ANK2):c.10080G>C (p.Gln3360His) rs1214575789 0.00001
NM_001148.6(ANK2):c.109C>T (p.Arg37Cys) rs369877280 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr) rs937014596 0.00001
NM_001242896.3(DEPDC5):c.1958dup (p.His653fs) rs1475605360 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn) rs369302142 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.82328G>A (p.Arg27443His) rs551496477 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=) rs775323670 0.00001
NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met) rs188832359 0.00001
NM_001329943.3(KIAA0586):c.2932_2944+4del rs1278372009 0.00001
NM_001349253.2(SCN11A):c.4770C>G (p.Ile1590Met) rs768568691 0.00001
NM_001354604.2(MITF):c.622G>A (p.Glu208Lys) rs768503905 0.00001
NM_001365536.1(SCN9A):c.3448G>A (p.Glu1150Lys) rs367794835 0.00001
NM_001367534.1(CAMK2G):c.286G>A (p.Gly96Arg) rs772531683 0.00001
NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu) rs1214168989 0.00001
NM_001371272.1(RAB11FIP5):c.3869G>A (p.Arg1290Gln) rs868507082 0.00001
NM_001371986.1(UNC80):c.2527C>T (p.Arg843Ter) rs74517001 0.00001
NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val) rs1057518375 0.00001
NM_001386795.1(DTNA):c.140A>G (p.Lys47Arg) rs1298586276 0.00001
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp) rs762095761 0.00001
NM_001478.5(B4GALNT1):c.1162_1164dup (p.Glu388dup) rs1333871469 0.00001
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr) rs772919504 0.00001
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr) rs552090021 0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_001848.3(COL6A1):c.911A>G (p.Lys304Arg) rs1064794736 0.00001
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070 0.00001
NM_002336.3(LRP6):c.1750C>T (p.His584Tyr) rs756283420 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002439.5(MSH3):c.2185C>G (p.His729Asp) rs145353158 0.00001
NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) rs1322526035 0.00001
NM_002471.4(MYH6):c.3860G>A (p.Gly1287Glu) rs780857713 0.00001
NM_002473.6(MYH9):c.2290C>T (p.Arg764Cys) rs1383986403 0.00001
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn) rs1050298581 0.00001
NM_002474.3(MYH11):c.2600G>A (p.Arg867Gln) rs773993037 0.00001
NM_002526.4(NT5E):c.1387C>T (p.Arg463Ter) rs755218216 0.00001
NM_002526.4(NT5E):c.223G>T (p.Glu75Ter) rs138139831 0.00001
NM_002691.4(POLD1):c.2066G>A (p.Arg689Gln) rs146530638 0.00001
NM_002691.4(POLD1):c.2911G>A (p.Glu971Lys) rs897259743 0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) rs761649878 0.00001
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431 0.00001
NM_002878.4(RAD51D):c.419G>A (p.Gly140Glu) rs730881945 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003072.5(SMARCA4):c.4533+6C>A rs1311909722 0.00001
NM_003235.5(TG):c.5686+1G>T rs374620255 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003477.3(PDHX):c.479G>A (p.Arg160His) rs747386411 0.00001
NM_003482.4(KMT2D):c.15323G>A (p.Arg5108His) rs1214099522 0.00001
NM_003705.5(SLC25A12):c.125G>A (p.Arg42His) rs143779282 0.00001
NM_003737.4(DCHS1):c.4378G>C (p.Ala1460Pro) rs1262227131 0.00001
NM_003738.5(PTCH2):c.1093G>T (p.Glu365Ter) rs1344552083 0.00001
NM_003738.5(PTCH2):c.453G>T (p.Gly151=) rs757012124 0.00001
NM_004168.4(SDHA):c.685G>A (p.Gly229Arg) rs41495051 0.00001
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu) rs1556832824 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile) rs201542066 0.00001
NM_004493.3(HSD17B10):c.286G>A (p.Val96Met) rs965610533 0.00001
NM_004655.4(AXIN2):c.1201-2A>G rs775783026 0.00001
NM_004667.6(HERC2):c.7617+4A>C rs1567006110 0.00001
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter) rs555710402 0.00001
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171 0.00001
NM_004998.4(MYO1E):c.1415C>T (p.Ala472Val) rs371914169 0.00001
NM_005188.4(CBL):c.1096-1G>T rs397517076 0.00001
NM_005876.5(SPEG):c.2134G>A (p.Val712Met) rs375953839 0.00001
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267 0.00001
NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr) rs1363040405 0.00001
NM_006493.4(CLN5):c.-113G>T rs1465531119 0.00001
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr) rs780529723 0.00001
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys) rs200529832 0.00001
NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser) rs1024767789 0.00001
NM_007118.4(TRIO):c.8119C>T (p.Arg2707Ter) rs747166529 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 0.00001
NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser) rs758835610 0.00001
NM_007289.4(MME):c.1511A>T (p.Glu504Val) rs201239248 0.00001
NM_007289.4(MME):c.1735G>A (p.Gly579Ser) rs767928746 0.00001
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu) rs398122647 0.00001
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr) rs730881474 0.00001
NM_007294.4(BRCA1):c.255G>T (p.Glu85Asp) rs756499058 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012309.5(SHANK2):c.1327C>A (p.Arg443Ser) rs1160968406 0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His) rs756132642 0.00001
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter) rs763615051 0.00001
NM_014244.5(ADAMTS2):c.2226T>A (p.Phe742Leu) rs768906337 0.00001
NM_014244.5(ADAMTS2):c.2696C>T (p.Ser899Leu) rs751948505 0.00001
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser) rs924785682 0.00001
NM_014689.3(DOCK10):c.279C>T (p.Tyr93=) rs1701350158 0.00001
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) rs764374251 0.00001
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val) rs1166797338 0.00001
NM_016026.4(RDH11):c.454+2T>A rs1364619920 0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile) rs746489573 0.00001
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter) rs1207589187 0.00001
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) rs766644919 0.00001
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu) rs750539322 0.00001
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter) rs766290773 0.00001
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu) rs753453050 0.00001
NM_017827.4(SARS2):c.30G>A (p.Trp10Ter) rs145754412 0.00001
NM_018105.3(THAP1):c.266A>G (p.Lys89Arg) rs267607111 0.00001
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn) rs1209550754 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018398.3(CACNA2D3):c.3071C>T (p.Pro1024Leu) rs1447772102 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter) rs1239725461 0.00001
NM_020921.4(NIN):c.4343A>T (p.Gln1448Leu) rs1440591707 0.00001
NM_020944.3(GBA2):c.1030G>C (p.Ala344Pro) rs750984776 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_021126.8(MPST):c.314A>G (p.Tyr105Cys) rs747813616 0.00001
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) rs757630049 0.00001
NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln) rs1235525082 0.00001
NM_022369.4(STRA6):c.1964G>A (p.Arg655His) rs397514639 0.00001
NM_022915.5(MRPL44):c.584T>C (p.Phe195Ser) rs1553539922 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024537.4(CARS2):c.1324G>C (p.Glu442Gln) rs761022161 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024721.5(ZFHX4):c.7316C>G (p.Pro2439Arg) rs1354750315 0.00001
NM_030665.4(RAI1):c.3478C>T (p.Arg1160Trp) rs761044841 0.00001
NM_031407.7(HUWE1):c.10775C>G (p.Ser3592Cys) rs782744389 0.00001
NM_031407.7(HUWE1):c.6052G>A (p.Gly2018Ser) rs1556957279 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys) rs587780229 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032380.5(GFM2):c.1229T>A (p.Ile410Lys) rs863224037 0.00001
NM_052867.4(NALCN):c.2887C>G (p.Leu963Val) rs890818947 0.00001
NM_080424.4(SP110):c.342C>A (p.Ser114Arg) rs1559178549 0.00001
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys) rs727504543 0.00001
NM_080680.3(COL11A2):c.798+67C>T rs772701006 0.00001
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446 0.00001
NM_133261.3(GIPC3):c.192G>A (p.Lys64=) rs876657466 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_144991.3(TSPEAR):c.1675T>C (p.Tyr559His) rs781818534 0.00001
NM_152641.4(ARID2):c.5359C>T (p.Arg1787Cys) rs1457405698 0.00001
NM_152722.5(HEPACAM):c.616C>T (p.Arg206Cys) rs551755804 0.00001
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu) rs780931107 0.00001
NM_153252.5(BRWD3):c.2878G>A (p.Val960Ile) rs1477713953 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_173728.4(ARHGEF15):c.868G>A (p.Ala290Thr) rs199835687 0.00001
NM_177438.3(DICER1):c.533A>T (p.His178Leu) rs201239474 0.00001
NM_177963.4(SYT12):c.791C>T (p.Pro264Leu) rs201856506 0.00001
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala) rs771949848 0.00001
NM_201384.3(PLEC):c.5981T>C (p.Leu1994Pro) rs886044775 0.00001
NM_201384.3(PLEC):c.9742G>A (p.Gly3248Ser) rs782522164 0.00001
NM_201596.3(CACNB2):c.120+360G>C rs1064795457 0.00001
GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1
GRCh37/hg19 10q11.23(chr10:52834351-52834661)x3
GRCh37/hg19 10q11.23-21.1(chr10:52833082-52913349)x3
GRCh37/hg19 10q21.3(chr10:68295495-68526163)x1
GRCh37/hg19 10q22.1(chr10:73405588-73406374)x1
GRCh37/hg19 10q24.31-24.32(chr10:102969339-103234142)x3
GRCh37/hg19 10q24.32(chr10:103421890-103458708)x3
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3
GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3
GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3
GRCh37/hg19 11q13.2(chr11:66760918-67015469)x3
GRCh37/hg19 11q14.1(chr11:78189174-78189989)x1
GRCh37/hg19 12q21.31(chr12:80696112-80696398)x1
GRCh37/hg19 12q24.32-24.33(chr12:129156032-129684048)x3
GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3
GRCh37/hg19 13q13.1(chr13:32788224-32896665)x3
GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1
GRCh37/hg19 13q34(chr13:115054475-115107733)x1
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3
GRCh37/hg19 14q23.1-23.2(chr14:61701451-62960957)
GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4
GRCh37/hg19 14q32.33(chr14:106335742-106732385)x3
GRCh37/hg19 14q32.33(chr14:106763887-107208510)x3
GRCh37/hg19 15q11.2(chr15:22770421-23209654)x1
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
GRCh37/hg19 15q13.1(chr15:28262885-28265761)x1
GRCh37/hg19 15q13.1-13.2(chr15:28958779-30386553)x1
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1
GRCh37/hg19 15q13.3(chr15:32003537-32444044)x3
GRCh37/hg19 15q13.3(chr15:32003537-32446830)x3
GRCh37/hg19 15q15.3(chr15:43892807-43895810)x1
GRCh37/hg19 15q15.3(chr15:43892948-43895542)x1
GRCh37/hg19 15q21.2(chr15:51673125-51942596)x1
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1
GRCh37/hg19 15q26.1(chr15:91422650-91497515)x1
GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3
GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1
GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3
GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1
GRCh37/hg19 16p12.2(chr16:21571710-22428364)x3
GRCh37/hg19 16p12.2(chr16:21596299-21787031)x1
GRCh37/hg19 16p12.2(chr16:21839340-22552780)
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3
GRCh37/hg19 16p13.12(chr16:12706347-12893819)x1
GRCh37/hg19 16p13.12-13.11(chr16:14643928-14725823)x1
GRCh37/hg19 16p13.3(chr16:6749657-7122769)x3
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
GRCh37/hg19 16q24.3(chr16:90089006-90274440)x3
GRCh37/hg19 17p11.2(chr17:19515340-19536015)x1
GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3
GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3
GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
GRCh37/hg19 17q21.31(chr17:42326687-42340104)x3
GRCh37/hg19 17q21.31(chr17:44216013-44275737)x1
GRCh37/hg19 17q23.1(chr17:58075497-58247438)x1
GRCh37/hg19 19p13.2(chr19:10642984-12810067)
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)
GRCh37/hg19 19q13.33(chr19:49640430-49703884)x3
GRCh37/hg19 1p13.3(chr1:109428017-109779697)x3
GRCh37/hg19 1p32.3(chr1:51105133-51347658)x1
GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3
GRCh37/hg19 1p36.22(chr1:12058633-12059409)x1
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1
GRCh37/hg19 1q21.1(chr1:145625692-145770627)x3
GRCh37/hg19 1q21.1-21.2(chr1:146347096-147824207)x1
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147824207)x1
GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3
GRCh37/hg19 1q41(chr1:217923165-218542059)x1
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3
GRCh37/hg19 1q44(chr1:246367970-246639585)x1
GRCh37/hg19 1q44(chr1:246530458-246608001)x1
GRCh37/hg19 1q44(chr1:246678242-246797859)x3
GRCh37/hg19 20p12.3(chr20:7103757-8558193)x3
GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35905168)x3
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35908414)x3
GRCh37/hg19 22q11.21(chr22:19058829-19163604)x1
GRCh37/hg19 22q11.21(chr22:20030782-20052415)x0
GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3
GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3
GRCh37/hg19 22q12.3(chr22:36831028-37009180)x3
GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3
GRCh37/hg19 2p16.1(chr2:56141953-56942624)x3
GRCh37/hg19 2p16.3(chr2:50646240-50775949)x1
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1
GRCh37/hg19 2p23.3(chr2:25464105-25581265)
GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1
GRCh37/hg19 2q13(chr2:111409518-113127751)x3
GRCh37/hg19 2q13(chr2:112658687-112833108)x1
GRCh37/hg19 2q14.3(chr2:127864458-128083342)x3
GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3
GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3
GRCh37/hg19 2q32.1(chr2:183764930-187399282)x1
GRCh37/hg19 3p14.1(chr3:68461188-69158250)x1
GRCh37/hg19 3p21.2(chr3:51112757-51113090)x0
GRCh37/hg19 3p22.1(chr3:39423783-39438788)x3
GRCh37/hg19 3p25.1(chr3:14188805-14189498)x1
GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1
GRCh37/hg19 3p26.3(chr3:1125700-1301859)x3
GRCh37/hg19 3p26.3(chr3:282750-2091065)x1
GRCh37/hg19 3q28(chr3:190114218-190144769)x1
GRCh37/hg19 3q29(chr3:194161542-194998084)x3
GRCh37/hg19 3q29(chr3:196381502-196771786)x3
GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3
GRCh37/hg19 4q22.1(chr4:92188768-92235446)x3
GRCh37/hg19 4q28.1(chr4:123977243-123978715)x1
GRCh37/hg19 4q31.3-32.1(chr4:154928902-155707223)x3
GRCh37/hg19 4q35.2(chr4:187853427-189952978)x1
GRCh37/hg19 5q33.1(chr5:151271611-151328403)x3
GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1
GRCh37/hg19 6p21.1(chr6:44274357-44278496)x1
GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1
GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1
GRCh37/hg19 7p11.2(chr7:55973193-56012570)x3
GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1
GRCh37/hg19 7p14.1(chr7:40026937-40170245)x3
GRCh37/hg19 7p21.3(chr7:7516346-8018481)x1
GRCh37/hg19 7p22.2(chr7:3543270-4045261)x3
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
GRCh37/hg19 7q11.23(chr7:75146857-75234346)x3
GRCh37/hg19 7q31.1(chr7:111051119-111197513)x1
GRCh37/hg19 7q31.1(chr7:111138678-111202263)x1
GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3
GRCh37/hg19 7q36.3(chr7:156886376-159119707)x1
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1
GRCh37/hg19 8p23.1-22(chr8:12559475-13050887)x3
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
GRCh37/hg19 9q33.1(chr9:119382179-119425090)x1
GRCh37/hg19 9q34.11(chr9:131184326-131503894)x1
GRCh37/hg19 Xp11.21(chrX:56301687-56431164)x3
GRCh37/hg19 Xp11.4(chrX:41772933-41777035)x1
GRCh37/hg19 Xp21.1(chrX:31747743-31838118)x0
GRCh37/hg19 Xp21.1(chrX:32173956-32431534)x0
GRCh37/hg19 Xp21.1(chrX:32232129-32536506)x1
GRCh37/hg19 Xp21.1(chrX:33183494-33640512)x2
GRCh37/hg19 Xp21.1(chrX:34628048-37181355)x0
GRCh37/hg19 Xp21.1(chrX:37526649-37554684)x3
GRCh37/hg19 Xp21.2(chrX:29417558-29938361)x3
GRCh37/hg19 Xp22.11(chrX:22196359-22196761)x1
GRCh37/hg19 Xp22.11(chrX:23351116-23530035)x3
GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1
GRCh37/hg19 Xp22.32-22.31(chrX:5966333-6121580)x3
GRCh37/hg19 Xp22.33(chrX:2746025-2799731)x1
GRCh37/hg19 Xq13.1(chrX:71401787-71617388)x2
GRCh37/hg19 Xq21.1(chrX:77032238-77144366)x3
GRCh37/hg19 Xq26.3(chrX:136647475-136892054)x3
GRCh37/hg19 Xq27.1-27.2(chrX:140159973-140609654)x1
GRCh37/hg19 Xq27.2(chrX:140353091-140738473)x2
GRCh37/hg19 Xq27.2(chrX:140353091-140738473)x3
GRCh37/hg19 Xq28(chrX:151903225-152027245)x3
GRCh37/hg19 Xq28(chrX:154124170-154528181)x1
GRCh37/hg19 Xq28(chrX:154124170-154528181)x3
GRCh37/hg19 Xq28(chrX:154489808-154490709)x0
GRCh37/hg19 Xq28(chrX:154773423-154797292)x0
GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3
NCBI36/hg18 10p15.3-14(chr10:1-6889456)x1
NCBI36/hg18 16p11.2(chr16:29385560-30239515)x3
NCBI36/hg18 1q21.1(chr1:143639135-144458626)x3
NCBI36/hg18 1q41-44(chr1:214401568-247249719)
NCBI36/hg18 1q42.2(chr1:229779180-229879929)x3
NCBI36/hg18 6p12.3(chr6:45579286-46089921)x3
NCBI36/hg18 7q11.22(chr7:69313697-69359559)x1
NCBI36/hg18 9p13.2(chr9:36470667-37047553)x3
NC_000008.11:g.7296399T>C rs201746613
NC_000016.10:g.173384_177187del
NC_012920.1(MT-ATP6):m.8636T>C rs2124594840
NC_012920.1(MT-ATP6):m.8806C>T rs2068712160
NC_012920.1(MT-ATP6):m.8821T>A rs1603221825
NC_012920.1(MT-ATP6):m.8878C>T rs2068712730
NC_012920.1(MT-ATP6):m.8946A>T rs879181854
NC_012920.1(MT-ATP6):m.8975T>C rs1981459
NC_012920.1(MT-ATP6):m.9155A>G
NC_012920.1(MT-CO1):m.6243G>A
NC_012920.1(MT-CO1):m.7191T>C rs1603220824
NC_012920.1(MT-CO2):m.7674T>C rs1569484168
NC_012920.1(MT-CYB):m.15485C>T
NC_012920.1(MT-CYB):m.15645T>C rs1603225402
NC_012920.1(MT-CYB):m.15909A>G rs1556424690
NC_012920.1(MT-CYB):m.1643A>G rs1603218595
NC_012920.1(MT-CYB):m.263A>G rs2853515
NC_012920.1(MT-CYB):m.3243A>T rs199474657
NC_012920.1(MT-CYB):m.5575T>C rs1603220034
NC_012920.1(MT-CYB):m.5640A>G rs1603220065
NC_012920.1(MT-CYB):m.750A>G rs2853518
NC_012920.1(MT-ND1):m.3357G>C rs1556422714
NC_012920.1(MT-ND4):m.10887A>G rs1603223004
NC_012920.1(MT-ND4L):m.10491A>G rs2124596211
NC_012920.1(MT-ND5):m.12499A>G rs2068732035
NC_012920.1(MT-ND5):m.13547C>T rs2068736660
NC_012920.1(MT-ND5):m.13763C>T rs1603224344
NC_012920.1(MT-TH):m.12187C>T rs2068730503
NC_012920.1(MT-TT):m.15917C>T rs2068749891
NC_012920.1:m.10018A>G rs1556423757
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.12170G>A rs1556424072
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.14663G>A rs1556424474
NC_012920.1:m.14706A>G rs1057516070
NC_012920.1:m.15492T>C rs1556424593
NC_012920.1:m.15708G>A rs1556424649
NC_012920.1:m.15928G>T rs527236198
NC_012920.1:m.3010G>A rs3928306
NC_012920.1:m.4315A>G rs876661359
NC_012920.1:m.4769A>G rs3021086
NC_012920.1:m.5505A>G rs1569484003
NC_012920.1:m.5561T>C rs1556423009
NC_012920.1:m.7041G>A rs1556423220
NC_012920.1:m.8568C>T rs1603221589
NC_012920.1:m.8651T>C rs1556423512
NC_012920.1:m.8686T>C rs1569484231
NC_012920.1:m.9041A>G rs879244322
NC_012920.1:m.9152T>C rs878853096
NC_012920.1:m.9157G>A rs1556423625
NC_012920.1:m.9813T>A rs1556423727
NM_000038.6(APC):c.1210del (p.Ile404fs) rs1064794225
NM_000038.6(APC):c.1804A>T (p.Asn602Tyr) rs2149841715
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.2624dup (p.Arg876fs) rs863225330
NM_000038.6(APC):c.2845A>G (p.Met949Val) rs587781348
NM_000038.6(APC):c.298del (p.Glu100fs) rs1064794224
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_000044.6(AR):c.2314A>C (p.Asn772His) rs886041352
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.8552C>T (p.Ala2851Val) rs876659701
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.2836del (p.Asp946fs) rs80359358
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp) rs80358600
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln) rs80358929
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys) rs1555287788
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg) rs587782779
NM_000070.3(CAPN3):c.1012G>C (p.Val338Leu) rs771608215
NM_000070.3(CAPN3):c.1722del (p.Ser575fs) rs1366387924
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys) rs1064794058
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.4(COL3A1):c.951+1G>A rs587779652
NM_000090.4(COL3A1):c.997G>C (p.Gly333Arg) rs1688217136
NM_000092.5(COL4A4):c.3398-5C>G rs1334751349
NM_000093.5(COL5A1):c.695C>T (p.Ala232Val) rs1834699128
NM_000094.4(COL7A1):c.2644T>C (p.Ser882Pro) rs2045438463
NM_000098.3(CPT2):c.863del (p.Leu288fs) rs1645416571
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp) rs1555398626
NM_000138.5(FBN1):c.374A>G (p.Asn125Ser) rs2044551186
NM_000138.5(FBN1):c.4708T>C (p.Trp1570Arg) rs1597548657
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.6787A>C (p.Met2263Leu) rs2043017749
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000145.4(FSHR):c.1501G>A (p.Ala501Thr) rs1674317526
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) rs1553690406
NM_000162.5(GCK):c.1085C>T (p.Thr362Ile) rs2096271812
NM_000169.3(GLA):c.11G>T (p.Arg4Met) rs1569306260
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000176.3(NR3C1):c.2136G>A (p.Trp712Ter) rs2151475967
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser) rs758699749
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg) rs975991506
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe) rs786202628
NM_000179.3(MSH6):c.2956A>G (p.Thr986Ala) rs1553414327
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000194.2(HPRT1):c.170T>C (p.Met57Thr) rs137852495
NM_000194.3(HPRT1):c.609+5G>A rs1569360139
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser) rs2123994315
NM_000209.4(PDX1):c.681C>A (p.Cys227Ter) rs777164146
NM_000215.4(JAK3):c.1291C>T (p.Arg431Trp) rs1274345651
NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg) rs1555085786
NM_000218.3(KCNQ1):c.1685+2T>C rs1590081467
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) rs1555843898
NM_000238.4(KCNH2):c.1926C>G (p.Ile642Met) rs1801154313
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) rs794728401
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val) rs267607864
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu) rs1060500691
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe) rs17217723
NM_000251.3(MSH2):c.1387-9T>A rs587779087
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.3(MSH2):c.2510C>G (p.Pro837Arg) rs1573578602
NM_000251.3(MSH2):c.2515C>G (p.His839Asp) rs876659466
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys) rs2104027960
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg) rs1064794704
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs) rs730880712
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000257.4(MYH7):c.1481T>A (p.Phe494Tyr) rs1555338257
NM_000257.4(MYH7):c.209C>T (p.Thr70Ile) rs1327007939
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe) rs727504703
NM_000257.4(MYH7):c.5283+2dup rs1566522824
NM_000266.4(NDP):c.185T>C (p.Leu62Pro) rs2147204870
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000285.4(PEPD):c.549-1G>A rs1204749077
NM_000291.4(PGK1):c.730T>G (p.Phe244Val) rs2078363321
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln) rs1578111487
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000314.8(PTEN):c.-687G>A
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter) rs1554897262
NM_000322.5(PRPH2):c.394del (p.Gln132fs) rs769723975
NM_000335.5(SCN5A):c.1076C>A (p.Ala359Asp) rs1553704925
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6006-698del rs4147902
NM_000368.5(TSC1):c.214C>G (p.Leu72Val) rs759183842
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser) rs1576878027
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys) rs771310130
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000416.3(IFNGR1):c.85+10T>C rs7749390
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.4(LAMA2):c.3068G>T (p.Cys1023Phe) rs1773498113
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu) rs1278777348
NM_000428.3(LTBP2):c.1865-19A>G
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile) rs1131691295
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly) rs368466538
NM_000455.5(STK11):c.1294C>T (p.Gln432Ter) rs1057523149
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) rs1320839573
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys) rs2148019913
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln) rs2128850745
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) rs876660508
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000539.3(RHO):c.946del (p.Cys316fs) rs1064793749
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.97-11C>A
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn) rs1397681630
NM_000718.4(CACNA1B):c.1116C>G (p.Phe372Leu) rs2133343171
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000777.5(CYP3A5):c.1165C>T (p.Pro389Ser) rs765108001
NM_000811.3(GABRA6):c.1009del (p.Arg337fs) rs765780675
NM_000814.6(GABRB3):c.928C>A (p.Leu310Ile) rs1889964767
NM_000828.5(GRIA3):c.2408G>A (p.Gly803Glu) rs1057521729
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.466G>A (p.Val156Ile) rs1555133189
NM_000843.4(GRM6):c.2213_2219del (p.Ala738fs) rs770025079
NM_000868.4(HTR2C):c.1170G>T (p.Glu390Asp) rs2071382276
NM_000875.5(IGF1R):c.1199C>T (p.Ser400Phe) rs2014371478
NM_000875.5(IGF1R):c.1862C>T (p.Ser621Leu) rs1131691583
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_000987.5(RPL26):c.341del (p.Asp114fs) rs2151671987
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) rs1564405163
NM_001003694.2(BRPF1):c.286C>T (p.Gln96Ter) rs1553693863
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001003800.2(BICD2):c.778G>T (p.Glu260Ter) rs1445458188
NM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter) rs139281548
NM_001004334.4(GPR179):c.4172A>C (p.Asp1391Ala) rs2144259445
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp) rs1064795892
NM_001005273.3(CHD3):c.3160G>A (p.Ala1054Thr) rs370985532
NM_001005279.3(OR6K2):c.669_670insA (p.Ala224fs) rs1553241101
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009999.3(KDM1A):c.1072+3A>G rs1553129313
NM_001010892.3(RSPH4A):c.1662+2_1662+5del rs768986129
NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe) rs1640045849
NM_001025.5(RPS23):c.200G>A (p.Arg67Lys) rs1060505034
NM_001029896.2(WDR45):c.246G>A (p.Trp82Ter) rs1602539456
NM_001029896.2(WDR45):c.827+1G>A rs1557083958
NM_001030006.2(AP2B1):c.240G>T (p.Gln80His) rs2073654935
NM_001031679.3(MSRB3):c.264-1G>A rs201306709
NM_001031684.3(SRSF7):c.357T>A (p.Cys119Ter)
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del) rs796053381
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_001032221.6(STXBP1):c.78_79del (p.Glu27fs) rs1554775956
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001036.6(RYR3):c.9290T>G (p.Val3097Gly) rs1555456665
NM_001039591.3(USP9X):c.7431+9dup rs774054468
NM_001040142.2(SCN2A):c.1511_1512del (p.Arg504fs) rs2105259822
NM_001040142.2(SCN2A):c.1988T>A (p.Leu663His)
NM_001040142.2(SCN2A):c.2960G>A (p.Ser987Asn) rs796053124
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter) rs1553463032
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) rs1553463096
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu) rs1553463140
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) rs796052029
NM_001042424.3(NSD2):c.2826_2827dup (p.Asp943fs)
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.6024T>C (p.Asp2008=) rs2069668775
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042545.2(LTBP4):c.2668G>C (p.Ala890Pro) rs1027642827
NM_001042545.2(LTBP4):c.289G>A (p.Val97Met)
NM_001069.3(TUBB2A):c.161C>A (p.Ala54Asp) rs1762626578
NM_001080.3(ALDH5A1):c.498G>T (p.Trp166Cys) rs1759244067
NM_001080437.3(SNED1):c.210_211dup (p.Tyr71fs) rs1553548453
NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs) rs1565638431
NM_001082538.3(TCTN1):c.1494+1G>A rs1165243207
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001093730.1(DYTN):c.1281_1282dup (p.Glu428fs) rs534558800
NM_001103.4(ACTN2):c.431A>T (p.Gln144Leu) rs1572114671
NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser) rs863223643
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110792.2(MECP2):c.1270G>T (p.Val424Phe) rs61753966
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.413+5G>A rs2148666320
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001114123.3(ELK1):c.775G>T (p.Val259Phe) rs2147941597
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) rs77132068
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) rs231399
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) rs1553238545
NM_001127198.5(TMC6):c.1950C>T (p.Thr650=) rs2613516
NM_001127222.2(CACNA1A):c.1030ATC[2] (p.Ile346del) rs2058556589
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val) rs1600353470
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
NM_001127511.3(APC):c.-191T>C rs879253783
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001128840.3(CACNA1D):c.4563A>T (p.Leu1521Phe) rs761795151
NM_001128840.3(CACNA1D):c.731T>G (p.Val244Gly) rs2108327394
NM_001129898.2(KRBOX4):c.254-1610_254-1608delinsT rs2146571577
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys) rs913431428
NM_001130144.3(LTBP3):c.2893+1G>T rs2135125210
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) rs71036212
NM_001130438.3(SPTAN1):c.3586C>G (p.Arg1196Gly) rs1156936601
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001134407.3(GRIN2A):c.1202C>T (p.Pro401Leu) rs1489261681
NM_001134407.3(GRIN2A):c.1983A>G (p.Gln661=) rs1327079068
NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter) rs1553149182
NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer) rs372628445
NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly) rs1344482241
NM_001143831.3(GRM5):c.797G>C (p.Ser266Thr) rs1565260714
NM_001144989.2(ZNF814):c.1892del (p.Pro631fs) rs1555777007
NM_001145004.2(GOLGA6L6):c.2015T>C (p.Met672Thr) rs4932675
NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro) rs2034878363
NM_001148.6(ANK2):c.1069C>T (p.Pro357Ser) rs2049005904
NM_001148.6(ANK2):c.10756+1G>T
NM_001148.6(ANK2):c.4351A>G (p.Thr1451Ala) rs1554536556
NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg) rs199828363
NM_001162501.2(TNRC6B):c.2247G>T (p.Trp749Cys) rs200598254
NM_001163809.2(WDR81):c.1585C>T (p.Arg529Ter) rs779405050
NM_001164508.2(NEB):c.2971C>G (p.Leu991Val) rs2148651785
NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn) rs121917967
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys) rs61741123
NM_001170629.2(CHD8):c.142C>T (p.Gln48Ter) rs1555318734
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001172501.3(SLC6A2):c.1584C>G (p.Phe528Leu) rs1085307494
NM_001172509.2(SATB2):c.19dup (p.Ser7fs) rs1553507389
NM_001174147.2(LMX1B):c.422_430del (p.Phe141_Cys143del) rs2118986948
NM_001190274.2(FBXO11):c.2084G>A (p.Gly695Asp) rs2104658680
NM_001194.4(HCN2):c.1348G>T (p.Val450Leu) rs2144522700
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) rs34970181
NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly) rs781670372
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu) rs1064795095
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) rs3806268
NM_001244008.2(KIF1A):c.3816+3G>A rs2047809605
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001252102.2(KIF21B):c.2959_2962dup (p.Asn988fs) rs1571930248
NM_001256067.2(NOXA1):c.870dup (p.Pro291fs) rs773184989
NM_001256447.2(BCAP31):c.341+2T>G rs1064794057
NM_001256447.2(BCAP31):c.526A>T (p.Lys176Ter) rs2148370601
NM_001260.3(CDK8):c.185C>T (p.Ser62Leu) rs1565977796
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro) rs1575292990
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.13025A>G (p.Lys4342Arg) rs2082249607
NM_001267550.2(TTN):c.13942G>A (p.Glu4648Lys) rs1553936042
NM_001267550.2(TTN):c.36449-2A>G
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.489dup (p.Ala164fs) rs1574990483
NM_001267550.2(TTN):c.58997_59009del (p.Ser19666fs) rs2050621917
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter) rs769345390
NM_001267550.2(TTN):c.69051A>G (p.Glu23017=) rs770296752
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln) rs1554078349
NM_001271.4(CHD2):c.1482_1486del (p.Trp494fs) rs2141802567
NM_001271.4(CHD2):c.3058C>T (p.Gln1020Ter) rs2141847168
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter) rs1555904878
NM_001282225.2(ADA2):c.1004A>G (p.His335Arg) rs2231495
NM_001282531.3(ADNP):c.82_85del (p.Leu28fs) rs1982227129
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg) rs1757529135
NM_001303037.2(PALS2):c.917del (p.Lys306fs) rs757450051
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001318852.2(MAPK8IP3):c.2820-3C>G rs1596807686
NM_001320.7(CSNK2B):c.367+5del rs1583610622
NM_001320.7(CSNK2B):c.70G>T (p.Glu24Ter) rs2151182211
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val) rs786204962
NM_001330078.2(NRXN1):c.1244A>G (p.Tyr415Cys) rs371321580
NM_001330078.2(NRXN1):c.2642A>C (p.Asp881Ala) rs2104919863
NM_001330078.2(NRXN1):c.4146del (p.Val1383fs) rs2104382191
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.3942+2_3942+5dup rs764867016
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val) rs1029149299
NM_001330574.2(ZNF711):c.1379A>T (p.Tyr460Phe) rs2147874862
NM_001330701.2(AGTPBP1):c.410C>A (p.Ser137Tyr) rs1261208737
NM_001346022.3(USP45):c.1008del (p.Val337fs) rs554927779
NM_001346810.2(DLGAP2):c.2812C>A (p.Pro938Thr) rs753629996
NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs) rs1555990946
NM_001348768.2(HECW2):c.1451A>T (p.Glu484Val)
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp) rs878854417
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp) rs483353068
NM_001353345.2(SETD1B):c.4315C>G (p.Pro1439Ala) rs2137578401
NM_001353921.2(ARHGEF9):c.1107_1108insT (p.Lys370Ter) rs2147218877
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) rs2048831313
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val) rs2139530241
NM_001356.5(DDX3X):c.1710G>A (p.Trp570Ter) rs1555954388
NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)
NM_001356.5(DDX3X):c.641_643delinsCC (p.Ile214fs) rs1131691571
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu) rs1064796820
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365088.1(SLC12A6):c.1576A>G (p.Thr526Ala) rs1555379629
NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del) rs2127289918
NM_001365276.2(TNXB):c.2531A>G (p.Gln844Arg) rs1187997184
NM_001365276.2(TNXB):c.496A>C (p.Thr166Pro) rs2127293388
NM_001365276.2(TNXB):c.5645C>T (p.Pro1882Leu)
NM_001365276.2(TNXB):c.7338G>C (p.Lys2446Asn) rs2151907242
NM_001365902.3(NFIX):c.337A>G (p.Lys113Glu) rs1555696597
NM_001365999.1(SZT2):c.4288G>A (p.Ala1430Thr) rs1553149451
NM_001365999.1(SZT2):c.5025-2A>G rs1557569831
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu) rs912981227
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367721.1(CASK):c.1480C>T (p.Gln494Ter) rs1064796879
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter) rs749742837
NM_001368894.2(PAX6):c.574C>T (p.Gln192Ter) rs1565207028
NM_001368894.2(PAX6):c.808-2A>C rs1554983251
NM_001370100.5(ZMYND11):c.1262G>A (p.Ser421Asn) rs869320713
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001371333.1(DIABLO):c.98G>A (p.Arg33Gln) rs758602603
NM_001371727.1(GABRB2):c.754C>A (p.Pro252Thr) rs869312861
NM_001371727.1(GABRB2):c.910G>A (p.Ala304Thr) rs1753822738
NM_001371928.1(AHDC1):c.1167del (p.Arg389fs) rs1553159581
NM_001371928.1(AHDC1):c.1169del (p.Pro390fs) rs1553159575
NM_001371986.1(UNC80):c.653T>C (p.Met218Thr) rs761062440
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs) rs1794427847
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001375380.1(EBF3):c.833del (p.Gly278fs) rs1589745620
NM_001375524.1(TRRAP):c.1327G>A (p.Asp443Asn) rs2116398727
NM_001375524.1(TRRAP):c.5498A>G (p.Asp1833Gly) rs1474271397
NM_001375524.1(TRRAP):c.5842A>G (p.Met1948Val) rs2116634460
NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu) rs2143203306
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val) rs1555411305
NM_001377265.1(MAPT):c.2090G>T (p.Ser697Ile) rs63751165
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp) rs543921060
NM_001378969.1(KCND3):c.868C>T (p.Arg290Trp) rs1674966199
NM_001379029.1(CERT1):c.1823G>C (p.Arg608Pro)
NM_001379270.1(CNGA1):c.1570G>C (p.Ala524Pro) rs373946784
NM_001386140.1(MTTP):c.787G>A (p.Ala263Thr) rs755170053
NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)
NM_001389.5(DSCAM):c.2487C>G (p.Asn829Lys)
NM_001394062.1(MACF1):c.3943A>G (p.Thr1315Ala)
NM_001394531.1(WDFY4):c.8253C>A (p.Asn2751Lys) rs767111707
NM_001394962.1(KIAA1210):c.577T>G (p.Ser193Ala) rs369956899
NM_001394998.1(TANC2):c.1171C>T (p.Pro391Ser) rs373599249
NM_001394998.1(TANC2):c.4868dup (p.Gln1625fs)
NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln) rs775368605
NM_001457.4(FLNB):c.4859C>A (p.Thr1620Lys) rs753946814
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu) rs975517733
NM_001540.5(HSPB1):c.184G>A (p.Ala62Thr) rs1064796602
NM_001572.5(IRF7):c.1146A>C (p.Gly382=) rs1061505
NM_001572.5(IRF7):c.184-4_184-3delinsAA rs386749598
NM_001614.5(ACTG1):c.824A>G (p.His275Arg)
NM_001615.4(ACTG2):c.478G>A (p.Val160Ile) rs761385269
NM_001702.3(ADGRB1):c.2696dup (p.Gln900fs) rs1554616325
NM_001830.4(CLCN4):c.806G>A (p.Gly269Asp) rs1131691687
NM_001844.5(COL2A1):c.3274-9_3274-6del rs1555165173
NM_001844.5(COL2A1):c.4018A>G (p.Lys1340Glu) rs927945133
NM_001845.6(COL4A1):c.2075C>G (p.Pro692Arg) rs1566356383
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu) rs1439633596
NM_001854.4(COL11A1):c.4094C>T (p.Pro1365Leu) rs1652816919
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)
NM_001855.5(COL15A1):c.12-6T>G rs2118725299
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001904.4(CTNNB1):c.768T>G (p.Ile256Met) rs2078159405
NM_001927.4(DES):c.1217G>T (p.Arg406Leu) rs1057520275
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)
NM_001958.5(EEF1A2):c.754G>C (p.Asp252His) rs786205865
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser) rs945307250
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2143C>T (p.Gln715Ter) rs797045090
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002029.4(FPR1):c.1037A>C (p.Glu346Ala) rs867228
NM_002029.4(FPR1):c.576T>C (p.Asn192=) rs1042229
NM_002047.2(GARS1):c.-45C>G rs903029869
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002103.5(GYS1):c.101G>T (p.Trp34Leu) rs1131691586
NM_002116.8(HLA-A):c.776del (p.Pro259fs) rs1554115495
NM_002192.4(INHBA):c.1050C>G (p.Cys350Trp) rs1562565534
NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu) rs1482793424
NM_002206.3(ITGA7):c.671-285A>G rs1873675449
NM_002240.5(KCNJ6):c.8A>T (p.Lys3Met) rs748430470
NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg) rs1569369217
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002317.7(LOX):c.545C>G (p.Pro182Arg) rs1261420416
NM_002317.7(LOX):c.732_735del (p.Cys244fs) rs779512296
NM_002332.3(LRP1):c.10129G>A (p.Gly3377Arg) rs1555187467
NM_002332.3(LRP1):c.10277G>C (p.Cys3426Ser) rs1592657298
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His) rs751407728
NM_002335.4(LRP5):c.4349-8C>A rs2153181939
NM_002354.3(EPCAM):c.-1C>G rs533255660
NM_002373.6(MAP1A):c.3571C>G (p.Pro1191Ala) rs2079336838
NM_002397.5(MEF2C):c.411del (p.Pro138fs) rs1581753788
NM_002397.5(MEF2C):c.413del (p.Pro138fs) rs1581753587
NM_002397.5(MEF2C):c.454_465delinsTGACA (p.His152_Leu155delinsTer) rs2152525511
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer) rs1554150543
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002439.5(MSH3):c.1914CTT[1] (p.Phe639del) rs758193305
NM_002473.6(MYH9):c.5563C>T (p.Arg1855Trp) rs1436597250
NM_002485.5(NBN):c.818C>G (p.Thr273Arg) rs1554563912
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_002576.5(PAK1):c.379G>A (p.Val127Met) rs2137081902
NM_002585.4(PBX1):c.616del (p.Arg206fs) rs2102319548
NM_002691.4(POLD1):c.1481T>A (p.Ile494Asn) rs1601217092
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002693.3(POLG):c.2383A>C (p.Asn795His) rs1555452983
NM_002693.3(POLG):c.260T>C (p.Ile87Thr) rs776347449
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter) rs141913727
NM_002816.5(PSMD12):c.112G>A (p.Gly38Arg) rs2042087429
NM_002880.4(RAF1):c.278C>T (p.Pro93Leu) rs1559438381
NM_002907.4(RECQL):c.623A>G (p.Tyr208Cys) rs2137374083
NM_002979.5(SCP2):c.825G>T (p.Met275Ile) rs1557580517
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.871C>T (p.Gln291Ter) rs1064795098
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) rs281875202
NM_003106.4(SOX2):c.100C>T (p.Gln34Ter) rs1714841256
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) rs1556235551
NM_003368.5(USP1):c.1985del (p.Asn662fs) rs751218576
NM_003470.3(USP7):c.675G>A (p.Met225Ile) rs1555465642
NM_003477.3(PDHX):c.794C>T (p.Thr265Ile)
NM_003573.2(LTBP4):c.230+2T>G rs2146012706
NM_003620.4(PPM1D):c.1437dup (p.Lys480Ter) rs769754801
NM_003718.5(CDK13):c.2511T>G (p.Asp837Glu) rs759838977
NM_003737.4(DCHS1):c.5912G>T (p.Arg1971Leu) rs138329507
NM_003803.4(MYOM1):c.4148T>A (p.Ile1383Asn) rs374491316
NM_003900.5(SQSTM1):c.105_123dup (p.Gly42fs) rs1064794783
NM_003931.3(WASF1):c.-2A>G
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter) rs1295394996
NM_004006.3(DMD):c.9749A>C (p.Glu3250Ala) rs2148540881
NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp) rs1437825772
NM_004082.5(DCTN1):c.3629C>T (p.Thr1210Ile) rs565866230
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004168.4(SDHA):c.1012del (p.Ala338fs) rs1295239305
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004278.4(PIGL):c.438C>A (p.Phe146Leu) rs773591135
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004319.3(ASTN1):c.3515A>T (p.Glu1172Val) rs1553217993
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004329.3(BMPR1A):c.1231G>A (p.Glu411Lys) rs786202611
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1454T>C (p.Ile485Thr) rs587783049
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.2090A>G (p.Lys697Arg) rs1961233865
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe) rs2106349155
NM_004369.4(COL6A3):c.6354+1G>A rs886042883
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2893C>G (p.Leu965Val) rs771868336
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala) rs750726658
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004456.5(EZH2):c.1876G>A (p.Val626Met) rs587783625
NM_004481.5(GALNT2):c.526G>C (p.Asp176His) rs2102736154
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_004500.4(HNRNPC):c.850_876del (p.Arg284_Asp292del) rs1284488942
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg) rs1825159081
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004525.3(LRP2):c.11114G>T (p.Cys3705Phe) rs1574095388
NM_004525.3(LRP2):c.5657A>G (p.Tyr1886Cys) rs1574143454
NM_004545.4(NDUFB1):c.140+5G>A rs1251993950
NM_004588.5(SCN2B):c.-18_-14delinsCTGTGCATT rs1948469133
NM_004589.4(SCO1):c.769A>C (p.Ile257Leu) rs1234427803
NM_004595.5(SMS):c.665A>T (p.Asp222Val) rs1556001304
NM_004655.4(AXIN2):c.267A>T (p.Gln89His) rs2044305289
NM_004656.4(BAP1):c.2100del (p.Arg701fs) rs2153226109
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg) rs1705222655
NM_004850.5(ROCK2):c.2878G>C (p.Glu960Gln) rs1558285391
NM_004859.4(CLTC):c.681+2dup rs1598214612
NM_004863.4(SPTLC2):c.768T>G (p.Ile256Met) rs879254003
NM_004958.4(MTOR):c.6674dup (p.Tyr2225Ter) rs1642559236
NM_004958.4(MTOR):c.7391G>T (p.Gly2464Val) rs1641758308
NM_004958.4(MTOR):c.7576G>A (p.Glu2526Lys) rs1641671309
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met) rs1064794738
NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn) rs747844549
NM_004974.4(KCNA2):c.739A>G (p.Lys247Glu) rs2101399657
NM_004985.5(KRAS):c.451-5588T>C rs1057517885
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del) rs1555168270
NM_005015.3(OXA1L):c.159dup (p.Ala54Serfs) rs559124780
NM_005040.4(PRCP):c.1290C>A (p.Asp430Glu)
NM_005045.4(RELN):c.1760A>G (p.Asn587Ser) rs1562940963
NM_005068.3(SIM1):c.1298C>A (p.Ser433Ter) rs1057518333
NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala) rs900013674
NM_005157.6(ABL1):c.760G>A (p.Gly254Arg) rs1831099962
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly) rs1391192747
NM_005216.5(DDOST):c.1274T>A (p.Phe425Tyr) rs374032054
NM_005235.3(ERBB4):c.2524C>T (p.Arg842Trp) rs1240072004
NM_005249.5(FOXG1):c.1062del (p.Ser355fs) rs1881817310
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys) rs387906818
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_005393.3(PLXNB3):c.3005G>A (p.Arg1002His) rs868912528
NM_005465.7(AKT3):c.543_546del (p.Glu182fs) rs1680073345
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005591.4(MRE11):c.193A>G (p.Asn65Asp) rs1947135355
NM_005718.5(ARPC4):c.472C>T (p.Arg158Cys) rs2125650298
NM_005802.5(TOPORS):c.2995A>T (p.Arg999Ter) rs1554671322
NM_005862.3(STAG1):c.1150G>C (p.Asp384His) rs1057524850
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn) rs201170917
NM_006005.3(WFS1):c.2296C>T (p.His766Tyr) rs1553878946
NM_006005.3(WFS1):c.2528A>T (p.Lys843Met) rs763464027
NM_006009.4(TUBA1A):c.1151T>A (p.Ile384Asn) rs1565626962
NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del) rs1555162244
NM_006012.4(CLPP):c.1A>G (p.Met1Val) rs1217350095
NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr) rs2124785718
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp) rs1553153771
NM_006032.4(CPNE6):c.881C>T (p.Thr294Ile) rs1566550951
NM_006047.6(RBM12):c.1592_1593delinsGGCT (p.Met531fs) rs2146348720
NM_006070.6(TFG):c.302A>G (p.Gln101Arg) rs1576366326
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) rs886041021
NM_006178.4(NSF):c.1289C>T (p.Ala430Val) rs1568034157
NM_006186.4(NR4A2):c.1576G>T (p.Glu526Ter) rs2105591753
NM_006231.4(POLE):c.840A>C (p.Lys280Asn) rs908089476
NM_006237.4(POU4F1):c.158_161dup (p.Leu55fs) rs1874754405
NM_006237.4(POU4F1):c.917A>G (p.Gln306Arg) rs1874704791
NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro) rs1131691266
NM_006258.4(PRKG1):c.1714C>A (p.Pro572Thr) rs1589761666
NM_006351.4(TIMM44):c.923C>A (p.Pro308Gln) rs139625465
NM_006386.5(DDX17):c.776A>G (p.Gln259Arg) rs2145699293
NM_006420.2(ARFGEF2):c.1062_1067del rs1555810077
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala) rs1159919237
NM_006514.4(SCN10A):c.368C>G (p.Ala123Gly) rs537640516
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006565.4(CTCF):c.979T>C (p.Cys327Arg) rs2052136913
NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly) rs1430185772
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006610.4(MASP2):c.551G>A (p.Cys184Tyr) rs1553161980
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr) rs869312847
NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr) rs376434268
NM_006767.4(LZTR1):c.202C>A (p.Arg68Ser) rs886041418
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) rs2143165387
NM_006821.6(ACOT2):c.983A>G (p.His328Arg) rs149033118
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.964G>A (p.Asp322Asn) rs1561686908
NM_006852.6(TLK2):c.1832T>G (p.Leu611Arg) rs1598875720
NM_006852.6(TLK2):c.367C>T (p.Arg123Ter) rs758726258
NM_006887.5(ZFP36L2):c.1426dup (p.Ser476fs) rs1558427702
NM_006922.4(SCN3A):c.1060A>C (p.Lys354Gln) rs1553535457
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493
NM_007118.4(TRIO):c.1369-1G>A
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.7049C>G (p.Pro2350Arg) rs754870679
NM_007194.4(CHEK2):c.676_677del (p.Leu226fs)
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) rs376736188
NM_007194.4(CHEK2):c.909-8T>C rs1569121935
NM_007217.4(PDCD10):c.269-1G>C rs1559952467
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) rs926913315
NM_007294.4(BRCA1):c.3444G>C (p.Glu1148Asp) rs2154315177
NM_007294.4(BRCA1):c.3629A>G (p.Glu1210Gly) rs1060502347
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs) rs1567777811
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007314.4(ABL2):c.1348_1349insT (p.Lys450fs) rs2102613028
NM_007315.4(STAT1):c.979A>G (p.Thr327Ala) rs1553495586
NM_007317.3(KIF22):c.446G>T (p.Arg149Leu) rs193922922
NM_007327.4(GRIN1):c.1334G>A (p.Gly445Asp) rs147435860
NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) rs1060500046
NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu) rs1064795712
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1]) rs1336140217
NM_012193.4(FZD4):c.40_49del (p.Pro14fs) rs1555086007
NM_012280.4(FTSJ1):c.620del (p.Pro207fs) rs2147096084
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter) rs2134275196
NM_012309.5(SHANK2):c.4592_4593del (p.Thr1531fs) rs1565526722
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs) rs1555204731
NM_013275.6(ANKRD11):c.3701A>G (p.Asn1234Ser) rs2151753726
NM_013275.6(ANKRD11):c.6581A>G (p.Gln2194Arg) rs1364705691
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013314.4(BLNK):c.171T>C (p.Pro57=) rs727852
NM_013382.7(POMT2):c.936C>G (p.Asp312Glu) rs186690580
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_013436.5(NCKAP1):c.2320C>A (p.Gln774Lys)
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014141.6(CNTNAP2):c.2743C>T (p.Arg915Cys) rs756798140
NM_014225.6(PPP2R1A):c.539T>C (p.Met180Thr) rs1600167941
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs) rs113994014
NM_014253.3(TENM1):c.1788_1792del (p.Cys596_Asp598delinsTer) rs2051127747
NM_014271.4(IL1RAPL1):c.621AGA[1] (p.Glu208del) rs1064795372
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) rs1555762722
NM_014363.6(SACS):c.5917A>G (p.Lys1973Glu)
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile) rs1566062847
NM_014365.3(HSPB8):c.577_580dup (p.Thr194fs) rs1954727878
NM_014516.4(CNOT3):c.169C>T (p.Arg57Trp) rs2074547544
NM_014633.5(CTR9):c.373A>G (p.Met125Val) rs1862865944
NM_014727.3(KMT2B):c.648_649insA (p.Arg217fs) rs1599668553
NM_014844.5(TECPR2):c.531G>T (p.Gln177His) rs1428893711
NM_014946.4(SPAST):c.1459A>C (p.Asn487His) rs1553318323
NM_015047.3(EMC1):c.2087G>A (p.Trp696Ter) rs1558096194
NM_015080.4(NRXN2):c.5065A>C (p.Lys1689Gln) rs1591422154
NM_015100.4(POGZ):c.284-1G>C rs2102308563
NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_015178.3(RHOBTB2):c.1837C>G (p.Leu613Val) rs753611203
NM_015215.4(CAMTA1):c.1A>G (p.Met1Val) rs1638882060
NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn) rs1666321359
NM_015225.3(PRUNE2):c.337C>A (p.Leu113Met) rs1554808146
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter) rs2137385115
NM_015335.5(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015354.3(NUP188):c.3881G>T (p.Cys1294Phe) rs2131192898
NM_015419.4(MXRA5):c.7986_8003delinsTGCAGCTGGGCAGGGACA (p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis) rs1603467724
NM_015447.4(CAMSAP1):c.1707dup (p.Thr570fs) rs1835535749
NM_015447.4(CAMSAP1):c.3130C>T (p.Gln1044Ter) rs1835459356
NM_015488.5(PNKD):c.408C>G (p.Ile136Met) rs763052723
NM_015512.5(DNAH1):c.550G>T (p.Gly184Cys) rs1578073213
NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met) rs371488822
NM_015559.3(SETBP1):c.1568del (p.His523fs) rs886041469
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) rs121918310
NM_016011.4(MECR):c.-39G>C rs749435497
NM_016069.11(PAM16):c.112C>G (p.Arg38Gly) rs1314983113
NM_016194.4(GNB5):c.348_352del (p.Asp116fs) rs1085307675
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs) rs1245338270
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016284.5(CNOT1):c.3113C>T (p.Thr1038Ile) rs2040453527
NM_016284.5(CNOT1):c.3265G>C (p.Val1089Leu) rs2040438229
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser) rs767929766
NM_016374.6(ARID4B):c.1097_1104dup (p.Leu369fs) rs2103026178
NM_016604.4(KDM3B):c.3165C>G (p.Asp1055Glu) rs1762641036
NM_016640.4(MRPS30):c.674G>A (p.Arg225Gln) rs751273694
NM_016734.3(PAX5):c.661C>T (p.Arg221Trp) rs2132194720
NM_017449.5(EPHB2):c.595C>T (p.Arg199Cys) rs1020423787
NM_017514.5(PLXNA3):c.1008_1009insAGAG (p.Leu337fs) rs2148245076
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val) rs1567731278
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017635.5(KMT5B):c.1174+5G>C rs2153047237
NM_017654.4(SAMD9):c.1796A>T (p.Asp599Val) rs2116419034
NM_017668.3(NDE1):c.948-7057G>A rs371348553
NM_017671.5(FERMT1):c.1812G>A (p.Trp604Ter) rs1172664527
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017857.4(SSH3):c.1383_1384dup (p.Ile462fs) rs773711729
NM_017934.7(PHIP):c.2319+1del rs1582180665
NM_017934.7(PHIP):c.600+1del rs1554210066
NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val) rs2037218302
NM_018091.6(ELP3):c.686del (p.Lys229fs) rs764649021
NM_018091.6(ELP3):c.893T>G (p.Ile298Ser) rs764954376
NM_018133.4(MSL2):c.73C>T (p.Pro25Ser) rs745561575
NM_018196.4(TMLHE):c.794C>T (p.Thr265Ile) rs1557332788
NM_018249.6(CDK5RAP2):c.4129G>T (p.Asp1377Tyr) rs747188549
NM_018255.4(ELP2):c.1518_1521del (p.Asn506fs) rs867944805
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_018398.3(CACNA2D3):c.25_29del (p.Arg9fs) rs1699498998
NM_018489.3(ASH1L):c.4224_4225del (p.Tyr1409fs) rs1570934766
NM_018684.4(ZC4H2):c.54-1G>A rs1569201245
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg) rs769647986
NM_018834.6(MATR3):c.341G>C (p.Ser114Thr) rs1554146456
NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe) rs201788352
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg) rs1216562585
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)
NM_018990.4(SASH3):c.1040G>A (p.Arg347His)
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs) rs1890397401
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter) rs765966679
NM_020311.3(ACKR3):c.772G>A (p.Val258Met) rs200582844
NM_020318.3(PAPPA2):c.1013TCT[2] (p.Phe340del) rs773901878
NM_020435.4(GJC2):c.1254_1258delinsCG (p.Lys418_Arg420delinsAsnGly) rs1553262641
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_020686.6(ABAT):c.448-1G>T rs1555491838
NM_020699.4(GATAD2B):c.1196del (p.Gln399fs) rs1553188054
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) rs886041621
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro) rs2153357304
NM_020751.3(COG6):c.851C>G (p.Ala284Gly) rs148869108
NM_020783.4(SYT4):c.1del (p.Met1fs) rs779678442
NM_020791.4(TAOK1):c.825_826insCT (p.Leu276_Lys277insTer) rs1555564792
NM_020843.4(SCAPER):c.2166-3C>G rs1598279469
NM_020925.4(CACHD1):c.1387G>A (p.Asp463Asn) rs1648970624
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln) rs777379515
NM_020975.6(RET):c.1828A>C (p.Asn610His) rs1837994023
NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser) rs149955255
NM_021120.4(DLG3):c.126dup (p.Gly43fs) rs2086554538
NM_021120.4(DLG3):c.631C>T (p.Arg211Ter) rs1213060424
NM_021228.3(SCAF1):c.1166C>G (p.Ser389Trp) rs867079547
NM_021625.5(TRPV4):c.617G>A (p.Arg206His) rs373108373
NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter) rs1163280866
NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del) rs773283542
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022356.4(P3H1):c.1426G>A (p.Gly476Ser) rs761570342
NM_022552.5(DNMT3A):c.1913C>G (p.Ser638Cys) rs1253868717
NM_022552.5(DNMT3A):c.998A>T (p.Asp333Val) rs1674968007
NM_024011.4(CDK11A):c.1927del (p.Ser643fs)
NM_024103.3(SLC25A23):c.757G>A (p.Ala253Thr) rs546358775
NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe) rs375461797
NM_024652.6(LRRK1):c.5870+1G>C rs1596362892
NM_024665.7(TBL1XR1):c.58+2T>C rs2108539830
NM_024665.7(TBL1XR1):c.941_943del (p.Val314del) rs1553810271
NM_024665.7(TBL1XR1):c.943_945del (p.Asp315del) rs1553810269
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024870.4(PREX2):c.357T>A (p.Tyr119Ter) rs1807584458
NM_025009.5(CEP135):c.3164A>G (p.Asp1055Gly)
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_025137.4(SPG11):c.4253T>A (p.Met1418Lys) rs1370792770
NM_025137.4(SPG11):c.6586-7T>C rs1057524222
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_030632.3(ASXL3):c.2074G>C (p.Ala692Pro) rs1212866279
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) rs377619533
NM_030653.4(DDX11):c.1888del (p.Arg630fs) rs766936952
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_031407.7(HUWE1):c.6976G>T (p.Asp2326Tyr) rs1569448303
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) rs2061745581
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del) rs548962140
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) rs1057524584
NM_032119.4(ADGRV1):c.13088A>G (p.Tyr4363Cys) rs1040207686
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp) rs2093132159
NM_032408.4(BAZ1B):c.3071+1G>T rs1554571044
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr) rs753733757
NM_032531.4(KIRREL3):c.1238C>T (p.Thr413Ile) rs1565456303
NM_032578.4(MYPN):c.746A>T (p.Asp249Val) rs2042254891
NM_032620.4(GTPBP3):c.424G>A (p.Glu142Lys) rs2074392366
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) rs1465665122
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu) rs376922578
NM_033091.3(TRIM4):c.1372del (p.Trp458fs) rs1254691563
NM_033132.5(ZIC5):c.11C>T (p.Pro4Leu) rs201940459
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_033429.3(CALML4):c.454del (p.Asp152fs) rs772664987
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033656.4(BRWD1):c.3904C>T (p.His1302Tyr) rs377313924
NM_052874.5(STX1B):c.736G>C (p.Ala246Pro) rs1567376699
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_053013.4(ENO3):c.240+13G>T rs1555553596
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2125G>T (p.Val709Leu) rs112537316
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu) rs863224806
NM_078480.3(PUF60):c.478_479del (p.Met160fs) rs1554643473
NM_078480.3(PUF60):c.503_509del (p.Lys168fs) rs1563825893
NM_078629.4(MSL3):c.1359ACA[1] (p.Gln454del) rs2053238758
NM_078629.4(MSL3):c.961C>T (p.Gln321Ter) rs2053172723
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080680.3(COL11A2):c.799-13C>T rs876657443
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp) rs372422727
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu) rs1553876590
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs) rs886041603
NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu) rs868294395
NM_133443.4(GPT2):c.1037+5G>C
NM_133443.4(GPT2):c.328C>T (p.Arg110Trp)
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr) rs150325234
NM_134261.3(RORA):c.804_805del (p.Ser269fs) rs1555423812
NM_138403.5(MYL10):c.565C>T (p.Arg189Cys) rs141873317
NM_138420.4(AHNAK2):c.3336_3337insA (p.Pro1113fs) rs1555402051
NM_138576.4(BCL11B):c.1365_1367del (p.Tyr455_Lys456delinsTer) rs1595215735
NM_138691.3(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg) rs1554217772
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138927.4(SON):c.1359G>T (p.Leu453Phe) rs2145818992
NM_138927.4(SON):c.2365del (p.Ser789fs) rs1555898531
NM_139058.3(ARX):c.946G>T (p.Gly316Cys) rs2048708756
NM_139276.3(STAT3):c.1250G>T (p.Arg417Ile) rs2144767285
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_144687.4(NLRP12):c.2468_2470delinsCTT (p.Leu823_Gly824delinsProCys) rs2091916523
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=) rs12460528
NM_144736.5(NDUFAF7):c.1217C>T (p.Ala406Val)
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.584del (p.Gly195fs) rs878855217
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter) rs145786060
NM_145331.3(MAP3K7):c.721T>G (p.Trp241Gly) rs886039237
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_148912.4(ABHD11):c.397A>G (p.Met133Val) rs1800037693
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_153614.4(DNAJB13):c.173-1G>A rs1565171522
NM_153816.6(SNX14):c.2557+1G>A rs200277996
NM_170601.5(SIAE):c.966+3A>G rs2134363681
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg) rs1572366516
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_172070.4(UBR3):c.5023G>C (p.Glu1675Gln) rs1574483194
NM_172107.4(KCNQ2):c.683A>G (p.His228Arg) rs2081358611
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro) rs150415034
NM_174911.5(LRATD2):c.391_392dup (p.His132fs) rs1554597029
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092
NM_178012.5(TUBB2B):c.32A>G (p.Gln11Arg) rs2113820411
NM_178014.4(TUBB):c.1057G>A (p.Val353Ile) rs587777356
NM_178014.4(TUBB):c.917G>C (p.Arg306Pro) rs2127749740
NM_181335.3(ARHGAP8):c.*157_*164del rs1601543290
NM_181675.4(PPP2R2B):c.328A>G (p.Thr110Ala) rs1064796487
NM_181715.3(CRTC2):c.753-2A>T rs2102110797
NM_182490.3(ZNF227):c.2233A>T (p.Lys745Ter) rs1555794654
NM_182503.3(ADAT2):c.191A>G (p.Gln64Arg) rs2128741897
NM_182524.4(ZNF595):c.572del (p.Thr191fs) rs1553801175
NM_182524.4(ZNF595):c.574_575insA (p.Gly192fs) rs1553801178
NM_182641.4(BPTF):c.898_899del (p.Thr300fs) rs2058572865
NM_182914.3(SYNE2):c.13693C>G (p.Gln4565Glu) rs2153672399
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) rs1553555777
NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs) rs1592773965
NM_198123.2(CSMD3):c.267A>G (p.Ala89=) rs2093896149
NM_198137.2(CATSPER4):c.523G>T (p.Glu175Ter) rs945217788
NM_198179.3(QRFPR):c.1025del (p.Asn342fs) rs545337361
NM_198253.3(TERT):c.2947C>T (p.His983Tyr) rs1554038803
NM_198253.3(TERT):c.544A>T (p.Thr182Ser) rs878855305
NM_198834.3(ACACA):c.364G>A (p.Val122Ile) rs2146612065
NM_198904.4(GABRG2):c.1029C>A (p.Phe343Leu) rs796052511
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416
NM_203446.3(SYNJ1):c.1183G>A (p.Ala395Thr) rs746354059
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045
NM_206933.4(USH2A):c.14133+5G>T rs2102661138
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter) rs1555409014
NM_207037.2(TCF12):c.2006G>T (p.Cys669Phe) rs1597901046
NM_213599.3(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626
Single allele
m.12297T>C rs121434464
m.1438A>G rs2001030
m.4216T>C rs1599988
m.5874T>C rs118203891
m.9379G>A rs267606615

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