ClinVar Miner

List of variants reported for not provided by GenomeConnect, ClinGen

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ClinVar version:
Total variants: 870
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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_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_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_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_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_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
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_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354 0.08679
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_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603 0.03712
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
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_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
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_176869.3(PPA2):c.64A>G (p.Thr22Ala) rs35571699 0.02096
NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His) rs72875762 0.01764
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_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
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_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_198529.4(EFCAB5):c.42+1G>A rs201197242 0.00559
NM_002562.6(P2RX7):c.125+1G>T rs35933842 0.00535
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078 0.00503
NM_017888.3(ACSM5):c.1157A>C (p.Lys386Thr) rs148243446 0.00490
NM_182588.3(RGPD4):c.1335G>A (p.Trp445Ter) rs1306583979 0.00444
NR_163193.1(TCP10):n.1018G>A rs140649985 0.00424
NM_006618.5(KDM5B):c.4145G>A (p.Arg1382Gln) rs34216958 0.00411
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_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.2175G>A (p.Arg725=) rs61733684 0.00329
NM_030930.4(UNC93B1):c.393-10C>T rs117183629 0.00314
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_033540.3(MFN1):c.677G>A (p.Arg226Gln) rs143476739 0.00265
NM_014611.3(MDN1):c.16547C>T (p.Ala5516Val) rs34750131 0.00257
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_001036.6(RYR3):c.7812C>G (p.Asn2604Lys) rs41279214 0.00237
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) rs140107023 0.00213
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
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_152781.4(HEATR9):c.400C>T (p.Arg134Ter) rs116191233 0.00190
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
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_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_001036.6(RYR3):c.6617A>C (p.Asn2206Thr) rs181264765 0.00150
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_000249.4(MLH1):c.-7C>T rs104894994 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_001144978.3(MTHFD2L):c.482G>A (p.Gly161Glu) rs144442266 0.00109
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
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_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_004104.5(FASN):c.1850C>T (p.Pro617Leu) rs45444391 0.00085
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
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_032776.3(JMJD1C):c.1120G>C (p.Asp374His) rs200016210 0.00061
NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr) rs150984011 0.00061
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_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_052850.4(GADD45GIP1):c.26G>A (p.Arg9His) rs375539782 0.00049
NM_173630.4(RTTN):c.2255C>T (p.Pro752Leu) rs35424122 0.00043
NM_007208.4(MRPL3):c.1033A>G (p.Ile345Val) rs143176048 0.00041
NM_001036.6(RYR3):c.9581G>A (p.Arg3194His) rs377341748 0.00037
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) rs150950017 0.00036
NM_032620.4(GTPBP3):c.1057G>A (p.Val353Ile) rs77401427 0.00036
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_001770.6(CD19):c.527C>T (p.Pro176Leu) rs148200569 0.00033
NM_138995.5(MYO3B):c.800A>G (p.Asn267Ser) rs34509373 0.00032
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_001036.6(RYR3):c.9799C>T (p.Pro3267Ser) rs182972491 0.00029
NM_004104.5(FASN):c.6155G>C (p.Gly2052Ala) rs780846548 0.00028
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_144991.3(TSPEAR):c.542+15G>A rs587599565 0.00025
NM_001278669.2(NFATC1):c.860C>T (p.Pro287Leu) rs200533002 0.00024
NM_020925.4(CACHD1):c.293G>A (p.Arg98His) rs201614737 0.00022
NM_138395.4(MARS2):c.697A>G (p.Ile233Val) rs150082953 0.00022
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_021228.3(SCAF1):c.457G>T (p.Ala153Ser) rs138792343 0.00020
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392 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_012330.4(KAT6B):c.2448G>A (p.Thr816=) rs372149429 0.00017
NM_005245.4(FAT1):c.9095T>C (p.Ile3032Thr) rs34805028 0.00016
NM_138441.3(CGAS):c.265_266dup (p.Gln89fs) rs749545076 0.00016
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_024721.5(ZFHX4):c.5362G>A (p.Val1788Ile) rs200415399 0.00015
NM_001002913.3(PTRH1):c.20T>C (p.Leu7Ser) rs538247883 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_014008.5(CCDC22):c.1402C>G (p.Arg468Gly) rs781907239 0.00014
NM_002907.4(RECQL):c.86C>T (p.Thr29Met) rs145067169 0.00013
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036 0.00012
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_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_001939.3(DRP2):c.1927G>A (p.Ala643Thr) rs774673009 0.00010
NM_003465.3(CHIT1):c.1125C>A (p.Tyr375Ter) rs149987600 0.00010
NM_001394065.1(CCDC190):c.88C>T (p.Gln30Ter) rs756079140 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_006248.4(PRB2):c.511C>T (p.Arg171Ter) rs201606820 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 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_001367479.1(DNAH14):c.11777-2A>G rs984710416 0.00006
NM_001747.4(CAPG):c.454G>T (p.Glu152Ter) rs142762000 0.00006
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His) rs753924410 0.00006
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 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_000455.5(STK11):c.316C>T (p.Arg106Trp) rs587782115 0.00004
NM_000692.5(ALDH1B1):c.319C>T (p.Arg107Cys) rs770857076 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_003721.4(RFXANK):c.639C>T (p.Gly213=) rs745918077 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_016077.5(PTRH2):c.101G>A (p.Arg34Gln) rs763600816 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_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val) rs587782662 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_001031679.3(MSRB3):c.80C>T (p.Ser27Leu) rs370812570 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001256317.3(TMPRSS3):c.566A>T (p.Tyr189Phe) rs781338726 0.00003
NM_001822.7(CHN1):c.1301C>T (p.Ala434Val) rs778517881 0.00003
NM_006231.4(POLE):c.1676G>A (p.Arg559Gln) rs766276875 0.00003
NM_014974.3(DIP2C):c.692G>A (p.Arg231Gln) rs756894472 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_020925.4(CACHD1):c.3244+3A>G rs750499224 0.00003
NM_024422.6(DSC2):c.1663+4A>G rs369849387 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 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_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_001036.6(RYR3):c.10961C>T (p.Ala3654Val) rs1462103365 0.00002
NM_001079.4(ZAP70):c.342C>T (p.Val114=) rs1008750552 0.00002
NM_001160148.2(DDHD1):c.1277A>G (p.Lys426Arg) rs764461965 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001470.4(GABBR1):c.1477G>C (p.Val493Leu) rs980473553 0.00002
NM_005462.5(MAGEC1):c.984_1086del (p.Ser328fs) rs1556442387 0.00002
NM_006231.4(POLE):c.5468G>A (p.Arg1823His) rs767747669 0.00002
NM_017514.5(PLXNA3):c.1985C>T (p.Thr662Met) rs1343189326 0.00002
NM_020247.5(COQ8A):c.1717G>A (p.Asp573Asn) rs1026198961 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_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.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.4535G>A (p.Arg1512His) rs80358685 0.00001
NM_000059.4(BRCA2):c.8527A>G (p.Asn2843Asp) rs876660403 0.00001
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) rs376603102 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_000257.4(MYH7):c.4489A>T (p.Thr1497Ser) rs928227757 0.00001
NM_000465.4(BARD1):c.1990A>G (p.Arg664Gly) rs1064795138 0.00001
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576 0.00001
NM_000546.6(TP53):c.685T>C (p.Cys229Arg) rs1064794312 0.00001
NM_000827.4(GRIA1):c.1988C>T (p.Thr663Met) rs752447548 0.00001
NM_001033566.3(RHOT1):c.1862+29G>A rs995710160 0.00001
NM_001098.3(ACO2):c.183G>A (p.Arg61=) rs773989143 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001354604.2(MITF):c.622G>A (p.Glu208Lys) rs768503905 0.00001
NM_001367534.1(CAMK2G):c.286G>A (p.Gly96Arg) rs772531683 0.00001
NM_001371272.1(RAB11FIP5):c.3869G>A (p.Arg1290Gln) rs868507082 0.00001
NM_001386795.1(DTNA):c.140A>G (p.Lys47Arg) rs1298586276 0.00001
NM_001478.5(B4GALNT1):c.1162_1164dup (p.Glu388dup) rs1333871469 0.00001
NM_002471.4(MYH6):c.3860G>A (p.Gly1287Glu) rs780857713 0.00001
NM_002691.4(POLD1):c.2911G>A (p.Glu971Lys) rs897259743 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 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_014365.3(HSPB8):c.208C>T (p.Pro70Ser) rs924785682 0.00001
NM_014689.3(DOCK10):c.279C>T (p.Tyr93=) rs1701350158 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_017739.4(POMGNT1):c.908C>T (p.Pro303Leu) rs753453050 0.00001
NM_018398.3(CACNA2D3):c.3071C>T (p.Pro1024Leu) rs1447772102 0.00001
NM_024721.5(ZFHX4):c.7316C>G (p.Pro2439Arg) rs1354750315 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_133261.3(GIPC3):c.192G>A (p.Lys64=) rs876657466 0.00001
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu) rs780931107 0.00001
NM_173728.4(ARHGEF15):c.868G>A (p.Ala290Thr) rs199835687 0.00001
NM_177963.4(SYT12):c.791C>T (p.Pro264Leu) rs201856506 0.00001
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1
GRCh37/hg19 10q21.3(chr10:68295495-68526163)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 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 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 15q13.1-13.2(chr15:28958779-30386553)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 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(chr16:29678569-30198121)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 16p13.11-12.3(chr16:15494600-18141051)x1
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3
GRCh37/hg19 16p13.12(chr16:12706347-12893819)x1
GRCh37/hg19 16p13.3(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(chr16:90089006-90274440)x3
GRCh37/hg19 17p11.2(chr17:19515340-19536015)x1
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3
GRCh37/hg19 17p13.2(chr17:3995902-4511207)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 1q21.1(chr1:145291030-145735385)x3
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 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(chr22:21119425-21431174)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 2p23.3(chr2:24235780-25700427)x1
GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1
GRCh37/hg19 2q13(chr2:111409518-113127751)x3
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 3p25.1(chr3:14188805-14189498)x1
GRCh37/hg19 3p26.3(chr3:1125700-1301859)x3
GRCh37/hg19 3p26.3(chr3:282750-2091065)x1
GRCh37/hg19 3q29(chr3:194161542-194998084)x3
GRCh37/hg19 3q29(chr3:196381502-196771786)x3
GRCh37/hg19 4q22.1(chr4:92188768-92235446)x3
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 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(chr7:75146857-75234346)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 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:32232129-32536506)x1
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 Xp22.32-22.31(chrX:5966333-6121580)x3
GRCh37/hg19 Xq13.1(chrX:71401787-71617388)x2
GRCh37/hg19 Xq21.1(chrX:77032238-77144366)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: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_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-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.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.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-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.14706A>G rs1057516070
NC_012920.1:m.15492T>C rs1556424593
NC_012920.1:m.15708G>A rs1556424649
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.8568C>T rs1603221589
NC_012920.1:m.8651T>C rs1556423512
NC_012920.1:m.9041A>G rs879244322
NC_012920.1:m.9157G>A rs1556423625
NC_012920.1:m.9813T>A rs1556423727
NM_000038.6(APC):c.2624dup (p.Arg876fs) rs863225330
NM_000038.6(APC):c.2845A>G (p.Met949Val) rs587781348
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.8552C>T (p.Ala2851Val) rs876659701
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.2836del (p.Asp946fs) rs80359358
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln) rs80358929
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys) rs1555287788
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg) rs587782779
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000138.5(FBN1):c.374A>G (p.Asn125Ser) rs2044551186
NM_000138.5(FBN1):c.6787A>C (p.Met2263Leu) rs2043017749
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.3725G>A (p.Arg1242His) rs63750119
NM_000218.3(KCNQ1):c.1685+2T>C rs1590081467
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) rs1555843898
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe) rs17217723
NM_000251.3(MSH2):c.2515C>G (p.His839Asp) rs876659466
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys) rs2104027960
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000257.4(MYH7):c.5283+2dup rs1566522824
NM_000266.4(NDP):c.185T>C (p.Leu62Pro) rs2147204870
NM_000285.4(PEPD):c.549-1G>A rs1204749077
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter) rs1554897262
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6006-698del rs4147902
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser) rs1576878027
NM_000416.3(IFNGR1):c.85+10T>C rs7749390
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly) rs368466538
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000868.4(HTR2C):c.1170G>T (p.Glu390Asp) rs2071382276
NM_001003694.2(BRPF1):c.286C>T (p.Gln96Ter) rs1553693863
NM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter) rs139281548
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005279.3(OR6K2):c.669_670insA (p.Ala224fs) rs1553241101
NM_001025.5(RPS23):c.200G>A (p.Arg67Lys) rs1060505034
NM_001030006.2(AP2B1):c.240G>T (p.Gln80His) rs2073654935
NM_001031684.3(SRSF7):c.357T>A (p.Cys119Ter)
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_001032221.6(STXBP1):c.78_79del (p.Glu27fs) rs1554775956
NM_001036.6(RYR3):c.9290T>G (p.Val3097Gly) rs1555456665
NM_001042492.3(NF1):c.6024T>C (p.Asp2008=) rs2069668775
NM_001069.3(TUBB2A):c.161C>A (p.Ala54Asp) rs1762626578
NM_001080437.3(SNED1):c.210_211dup (p.Tyr71fs) rs1553548453
NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs) rs1565638431
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001093730.1(DYTN):c.1281_1282dup (p.Glu428fs) rs534558800
NM_001114123.3(ELK1):c.775G>T (p.Val259Phe) rs2147941597
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) rs231399
NM_001127198.5(TMC6):c.1950C>T (p.Thr650=) rs2613516
NM_001128840.3(CACNA1D):c.4563A>T (p.Leu1521Phe) rs761795151
NM_001129898.2(KRBOX4):c.254-1610_254-1608delinsT rs2146571577
NM_001130438.3(SPTAN1):c.3586C>G (p.Arg1196Gly) rs1156936601
NM_001134407.3(GRIN2A):c.1202C>T (p.Pro401Leu) rs1489261681
NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer) rs372628445
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_001162501.2(TNRC6B):c.2247G>T (p.Trp749Cys) rs200598254
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) rs3806268
NM_001252102.2(KIF21B):c.2959_2962dup (p.Asn988fs) rs1571930248
NM_001256067.2(NOXA1):c.870dup (p.Pro291fs) rs773184989
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro) rs1575292990
NM_001267550.2(TTN):c.36449-2A>G
NM_001267550.2(TTN):c.489dup (p.Ala164fs) rs1574990483
NM_001267550.2(TTN):c.58997_59009del (p.Ser19666fs) rs2050621917
NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln) rs1554078349
NM_001282225.2(ADA2):c.1004A>G (p.His335Arg) rs2231495
NM_001303037.2(PALS2):c.917del (p.Lys306fs) rs757450051
NM_001330078.2(NRXN1):c.2642A>C (p.Asp881Ala) rs2104919863
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val) rs1029149299
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.4334A>G (p.Glu1445Gly) rs878854424
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001368894.2(PAX6):c.808-2A>C rs1554983251
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001386140.1(MTTP):c.787G>A (p.Ala263Thr) rs755170053
NM_001389.5(DSCAM):c.2487C>G (p.Asn829Lys)
NM_001394531.1(WDFY4):c.8253C>A (p.Asn2751Lys) rs767111707
NM_001394962.1(KIAA1210):c.577T>G (p.Ser193Ala) rs369956899
NM_001572.5(IRF7):c.1146A>C (p.Gly382=) rs1061505
NM_001572.5(IRF7):c.184-4_184-3delinsAA rs386749598
NM_001702.3(ADGRB1):c.2696dup (p.Gln900fs) rs1554616325
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_002029.4(FPR1):c.1037A>C (p.Glu346Ala) rs867228
NM_002029.4(FPR1):c.576T>C (p.Asn192=) rs1042229
NM_002192.4(INHBA):c.1050C>G (p.Cys350Trp) rs1562565534
NM_002332.3(LRP1):c.10129G>A (p.Gly3377Arg) rs1555187467
NM_002332.3(LRP1):c.10277G>C (p.Cys3426Ser) rs1592657298
NM_002373.6(MAP1A):c.3571C>G (p.Pro1191Ala) rs2079336838
NM_002485.5(NBN):c.818C>G (p.Thr273Arg) rs1554563912
NM_002691.4(POLD1):c.1481T>A (p.Ile494Asn) rs1601217092
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002880.4(RAF1):c.278C>T (p.Pro93Leu) rs1559438381
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
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_003620.4(PPM1D):c.1437dup (p.Lys480Ter) rs769754801
NM_004319.3(ASTN1):c.3515A>T (p.Glu1172Val) rs1553217993
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004360.5(CDH1):c.2090A>G (p.Lys697Arg) rs1961233865
NM_004500.4(HNRNPC):c.850_876del (p.Arg284_Asp292del) rs1284488942
NM_004545.4(NDUFB1):c.140+5G>A rs1251993950
NM_004588.5(SCN2B):c.-18_-14delinsCTGTGCATT rs1948469133
NM_004850.5(ROCK2):c.2878G>C (p.Glu960Gln) rs1558285391
NM_004958.4(MTOR):c.7576G>A (p.Glu2526Lys) rs1641671309
NM_005015.3(OXA1L):c.159dup (p.Ala54Serfs) rs559124780
NM_005040.4(PRCP):c.1290C>A (p.Asp430Glu)
NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala) rs900013674
NM_005235.3(ERBB4):c.2524C>T (p.Arg842Trp) rs1240072004
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_005718.5(ARPC4):c.472C>T (p.Arg158Cys) rs2125650298
NM_006032.4(CPNE6):c.881C>T (p.Thr294Ile) rs1566550951
NM_006047.6(RBM12):c.1592_1593delinsGGCT (p.Met531fs) rs2146348720
NM_006178.4(NSF):c.1289C>T (p.Ala430Val) rs1568034157
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_006351.4(TIMM44):c.923C>A (p.Pro308Gln) rs139625465
NM_006386.5(DDX17):c.776A>G (p.Gln259Arg) rs2145699293
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala) rs1159919237
NM_006610.4(MASP2):c.551G>A (p.Cys184Tyr) rs1553161980
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_006887.5(ZFP36L2):c.1426dup (p.Ser476fs) rs1558427702
NM_007194.4(CHEK2):c.676_677del (p.Leu226fs)
NM_007194.4(CHEK2):c.909-8T>C rs1569121935
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_013314.4(BLNK):c.171T>C (p.Pro57=) rs727852
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014253.3(TENM1):c.1788_1792del (p.Cys596_Asp598delinsTer) rs2051127747
NM_014516.4(CNOT3):c.169C>T (p.Arg57Trp) rs2074547544
NM_014633.5(CTR9):c.373A>G (p.Met125Val) rs1862865944
NM_015080.4(NRXN2):c.5065A>C (p.Lys1689Gln) rs1591422154
NM_015215.4(CAMTA1):c.1A>G (p.Met1Val) rs1638882060
NM_015225.3(PRUNE2):c.337C>A (p.Leu113Met) rs1554808146
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_015512.5(DNAH1):c.550G>T (p.Gly184Cys) rs1578073213
NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met) rs371488822
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
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_017449.5(EPHB2):c.595C>T (p.Arg199Cys) rs1020423787
NM_017514.5(PLXNA3):c.1008_1009insAGAG (p.Leu337fs) rs2148245076
NM_017671.5(FERMT1):c.1812G>A (p.Trp604Ter) rs1172664527
NM_017857.4(SSH3):c.1383_1384dup (p.Ile462fs) rs773711729
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_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_018398.3(CACNA2D3):c.25_29del (p.Arg9fs) rs1699498998
NM_018990.4(SASH3):c.1040G>A (p.Arg347His)
NM_020311.3(ACKR3):c.772G>A (p.Val258Met) rs200582844
NM_020318.3(PAPPA2):c.1013TCT[2] (p.Phe340del) rs773901878
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro) rs2153357304
NM_020783.4(SYT4):c.1del (p.Met1fs) rs779678442
NM_020791.4(TAOK1):c.825_826insCT (p.Leu276_Lys277insTer) rs1555564792
NM_020925.4(CACHD1):c.1387G>A (p.Asp463Asn) rs1648970624
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln) rs777379515
NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser) rs149955255
NM_021120.4(DLG3):c.126dup (p.Gly43fs) rs2086554538
NM_021228.3(SCAF1):c.1166C>G (p.Ser389Trp) rs867079547
NM_024011.4(CDK11A):c.1927del (p.Ser643fs)
NM_024103.3(SLC25A23):c.757G>A (p.Ala253Thr) rs546358775
NM_024652.6(LRRK1):c.5870+1G>C rs1596362892
NM_024870.4(PREX2):c.357T>A (p.Tyr119Ter) rs1807584458
NM_025009.5(CEP135):c.3164A>G (p.Asp1055Gly)
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del) rs548962140
NM_032119.4(ADGRV1):c.13088A>G (p.Tyr4363Cys) rs1040207686
NM_032408.4(BAZ1B):c.3071+1G>T rs1554571044
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) rs1465665122
NM_033091.3(TRIM4):c.1372del (p.Trp458fs) rs1254691563
NM_033132.5(ZIC5):c.11C>T (p.Pro4Leu) rs201940459
NM_033429.3(CALML4):c.454del (p.Asp152fs) rs772664987
NM_033656.4(BRWD1):c.3904C>T (p.His1302Tyr) rs377313924
NM_052874.5(STX1B):c.736G>C (p.Ala246Pro) rs1567376699
NM_078629.4(MSL3):c.961C>T (p.Gln321Ter) rs2053172723
NM_080680.3(COL11A2):c.799-13C>T rs876657443
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
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_138927.4(SON):c.2365del (p.Ser789fs) rs1555898531
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=) rs12460528
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_170601.5(SIAE):c.966+3A>G rs2134363681
NM_172070.4(UBR3):c.5023G>C (p.Glu1675Gln) rs1574483194
NM_174911.5(LRATD2):c.391_392dup (p.His132fs) rs1554597029
NM_181335.3(ARHGAP8):c.*157_*164del rs1601543290
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_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_198834.3(ACACA):c.364G>A (p.Val122Ile) rs2146612065
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045
NM_207037.2(TCF12):c.2006G>T (p.Cys669Phe) rs1597901046
Single allele
m.12297T>C rs121434464
m.1438A>G rs2001030
m.4216T>C rs1599988
m.5874T>C rs118203891

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