ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from GeneDx and "likely pathogenic" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 960
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_001486.4(GCKR):c.1135dup (p.Thr379fs) rs573498430 0.00149
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00074
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) rs55831733 0.00074
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser) rs118204022 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter) rs200353633 0.00032
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs) rs538193392 0.00024
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys) rs139194636 0.00024
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00018
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter) rs201442213 0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) rs202219343 0.00016
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp) rs766079334 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_001267550.2(TTN):c.38122+2T>C rs781392575 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_016955.4(SEPSECS):c.548-1G>A rs200041461 0.00014
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000237.3(LPL):c.286G>C (p.Val96Leu) rs373088068 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu) rs546495818 0.00013
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000666.3(ACY1):c.480_493dup (p.His165fs) rs769746453 0.00011
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_020117.11(LARS1):c.2770-2A>G rs139456270 0.00009
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr) rs61754056 0.00008
NM_014639.4(SKIC3):c.642+1G>A rs538894487 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile) rs193922637 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_015559.3(SETBP1):c.487-1G>A rs147805077 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile) rs966434923 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) rs190706099 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His) rs576243101 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu) rs201842856 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001365536.1(SCN9A):c.902-2A>C rs773824421 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000501.4(ELN):c.164-2A>C rs782096458 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) rs756412997 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001031710.3(KLHL7):c.793+5G>C rs375718274 0.00004
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu) rs567875341 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_002340.6(LSS):c.1054G>A (p.Gly352Arg) rs373046759 0.00004
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) rs777525949 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_133459.4(CCBE1):c.916-2A>G rs367990953 0.00004
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp) rs764992976 0.00004
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) rs751931568 0.00004
NM_176869.3(PPA2):c.379C>T (p.Arg127Cys) rs372302682 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_000079.4(CHRNA1):c.235-323G>A rs750955953 0.00003
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His) rs368016280 0.00003
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104 0.00003
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001079866.2(BCS1L):c.551G>A (p.Arg184His) rs779504946 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001267550.2(TTN):c.17461+1G>T rs747990127 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_002340.6(LSS):c.1194+5G>A rs748758448 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_020774.4(MIB1):c.2305C>T (p.Arg769Ter) rs752243957 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter) rs747897279 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000157.4(GBA1):c.901C>T (p.Arg301Cys) rs374117599 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) rs201728041 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_001083614.2(EARS2):c.1394T>C (p.Leu465Pro) rs759857078 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro) rs766921440 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys) rs375933774 0.00002
NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523 0.00002
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402 0.00002
NM_002296.4(LBR):c.1756C>T (p.Arg586Cys) rs199675363 0.00002
NM_002662.5(PLD1):c.2543+1G>T rs779667018 0.00002
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007289.4(MME):c.1914+1G>A rs1003705057 0.00002
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His) rs761175955 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_025216.3(WNT10A):c.311G>A (p.Arg104His) rs374910216 0.00002
NM_031407.7(HUWE1):c.12980G>A (p.Arg4327Gln) rs1290768701 0.00002
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) rs553547069 0.00002
NM_053025.4(MYLK):c.1517-2A>G rs770709606 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) rs377074720 0.00002
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys) rs769832110 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_207346.3(TSEN54):c.370-2A>G rs762922379 0.00002
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095 0.00001
NM_000033.4(ABCD1):c.1937C>T (p.Ala646Val) rs1258368672 0.00001
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000081.4(LYST):c.7780+2C>T rs760108842 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val) rs776806414 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000143.4(FH):c.405T>G (p.His135Gln) rs1298815479 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000163.5(GHR):c.504T>G (p.His168Gln) rs121909373 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 0.00001
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln) rs730880843 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser) rs1364834942 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000306.4(POU1F1):c.143-2A>G rs746709336 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp) rs147932486 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser) rs867875828 0.00001
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr) rs760481450 0.00001
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) rs772094360 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly) rs1327701164 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser) rs1362906637 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp) rs28931609 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) rs587780068 0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) rs137853311 0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) rs748547209 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp) rs377314861 0.00001
NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter) rs956457873 0.00001
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu) rs761853610 0.00001
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer) rs796053242 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs) rs1553940935 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.26482+1G>C rs1440418037 0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter) rs1441434215 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser) rs781162787 0.00001
NM_001374828.1(ARID1B):c.3236-1G>A rs752642190 0.00001
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys) rs1294150954 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His) rs756155678 0.00001
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser) rs1179536054 0.00001
NM_001846.4(COL4A2):c.1012-1G>A rs1224451609 0.00001
NM_001846.4(COL4A2):c.1776+1G>A rs886039602 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960 0.00001
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr) rs759993423 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002739.5(PRKCG):c.1764+1G>T rs1406338491 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 0.00001
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) rs121434500 0.00001
NM_004092.4(ECHS1):c.712G>C (p.Ala238Pro) rs142639185 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly) rs1064794231 0.00001
NM_004614.5(TK2):c.310C>T (p.Arg104Cys) rs1194187379 0.00001
NM_004614.5(TK2):c.497A>T (p.Asp166Val) rs921593414 0.00001
NM_004655.4(AXIN2):c.1908-2A>G rs978837790 0.00001
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs) rs754121759 0.00001
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) rs758468167 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006231.4(POLE):c.2562-2A>C rs751662353 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_006231.4(POLE):c.6658-2A>G rs751217859 0.00001
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His) rs139412383 0.00001
NM_006767.4(LZTR1):c.1261-2A>G rs759240190 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser) rs746382157 0.00001
NM_012318.3(LETM1):c.1178G>A (p.Arg393His) rs201808137 0.00001
NM_013432.5(TONSL):c.1958C>T (p.Thr653Met) rs755055463 0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014254.3(RXYLT1):c.914+6T>G rs748809209 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_015959.4(TMX2):c.392del (p.Leu131fs) rs758529293 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_016648.4(LARP7):c.552+1G>T rs200544616 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_020774.4(MIB1):c.1417C>T (p.Gln473Ter) rs1386314249 0.00001
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly) rs1064795812 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_022124.6(CDH23):c.3220G>A (p.Asp1074Asn) rs750452808 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) rs777306476 0.00001
NM_024063.3(AFG2B):c.2087G>T (p.Cys696Phe) rs747249958 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_032608.7(MYO18B):c.3775+1G>C rs539007966 0.00001
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_176869.3(PPA2):c.346C>T (p.Pro116Ser) rs373735128 0.00001
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.3(ACVRL1):c.526-6C>G rs1438077609
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys) rs1555152796
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile) rs1555283267
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) rs587782715
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe) rs80359044
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser) rs763794604
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) rs794728223
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.158C>T (p.Ala53Val) rs2128823130
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del) rs587779284
NM_000179.3(MSH6):c.3802-7_3802-4del rs876661171
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) rs2122615095
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs) rs1848361555
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val) rs199472707
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu) rs794728372
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala) rs1244840759
NM_000257.4(MYH7):c.1664A>G (p.Asn555Ser) rs876661215
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) rs606231332
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.415G>T (p.Val139Leu) rs2138684666
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.646C>G (p.Leu216Val) rs772488436
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val) rs1555078946
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.6041A>G (p.His2014Arg) rs2135762079
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000275.3(OCA2):c.646+1G>A
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln) rs2048199652
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly) rs1727651995
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg) rs1555564040
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) rs1688692415
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu) rs2152010930
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000335.5(SCN5A):c.2701G>A (p.Glu901Lys) rs199473174
NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro) rs2061581608
NM_000335.5(SCN5A):c.4393A>G (p.Ile1465Val) rs794728881
NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala) rs2101078285
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4859A>T (p.Asn1620Ile) rs1659893012
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val) rs137852675
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys) rs2135332829
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) rs1064794290
NM_000394.4(CRYAA):c.440del (p.Gln147fs) rs1114167311
NM_000428.3(LTBP2):c.3652+1G>C rs773910322
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) rs1064796435
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg) rs1064796929
NM_000459.5(TEK):c.2753G>A (p.Arg918His) rs1554701458
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) rs2146291027
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000539.3(RHO):c.677T>C (p.Leu226Pro) rs2084786958
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His) rs150495044
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile) rs2135854451
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000814.6(GABRB3):c.756G>A (p.Met252Ile)
NM_000900.5(MGP):c.56G>A (p.Cys19Tyr) rs1555094473
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.660_669del (p.Asn220fs) rs778808650
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs) rs762904815
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) rs762942358
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001033044.4(GLUL):c.-13-2A>G rs2101936731
NM_001033044.4(GLUL):c.1A>G (p.Met1Val) rs1131691970
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile) rs2101936697
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly) rs1700069190
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001042492.3(NF1):c.-272G>A rs1911510393
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg) rs1597629884
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) rs2148407095
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp) rs2074117985
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His) rs2144595024
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met) rs1594771155
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs) rs760334885
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp) rs199681253
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) rs1591664697
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) rs1574060743
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.4338+5G>A rs796053011
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001194.4(HCN2):c.1106A>G (p.Asn369Ser) rs2144519137
NM_001194.4(HCN2):c.1432_1434del (p.Glu478del) rs2144522815
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys) rs770777693
NM_001205293.3(CACNA1E):c.586C>T (p.Arg196Trp) rs1651121815
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro) rs746890435
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.15691C>T (p.Gln5231Ter)
NM_001267550.2(TTN):c.30356_30359del (p.Glu10119fs) rs2154290001
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter) rs754568652
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs) rs1279657093
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser) rs2138904379
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001355436.2(SPTB):c.5898C>T (p.Gly1966=) rs2139488882
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001375524.1(TRRAP):c.3140G>A (p.Arg1047His) rs2116495297
NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_001378969.1(KCND3):c.1489_1490del (p.Leu497fs) rs1664228420
NM_001378974.1(FBXW11):c.856T>C (p.Trp286Arg) rs1758225061
NM_001379500.1(COL18A1):c.3620C>T (p.Ser1207Phe) rs1085307837
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001399.5(EDA):c.707-13T>G rs2147511678
NM_001429.4(EP300):c.2997+1G>A rs1169505007
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001556.3(IKBKB):c.512A>G (p.Lys171Arg) rs1064795873
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu) rs1060500134
NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn) rs1064794385
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001854.4(COL11A1):c.2241+5G>T rs2101800665
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val) rs1663311706
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001958.5(EEF1A2):c.374C>A (p.Ala125Glu) rs1057518587
NM_002055.5(GFAP):c.1171+472G>A rs748860341
NM_002181.4(IHH):c.949G>A (p.Val317Met) rs886044074
NM_002334.4(LRP4):c.3698A>C (p.Glu1233Ala) rs1940998166
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) rs200389686
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter) rs1933302820
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter) rs779530750
NM_002524.5(NRAS):c.268T>C (p.Phe90Leu) rs1393160852
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002772.3(TMPRSS15):c.533-2A>G
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln) rs2112509032
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer) rs775055596
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs) rs1234122324
NM_002972.4(SBF1):c.897+1G>A rs374026247
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His) rs1555785361
NM_003076.5(SMARCD1):c.494G>A (p.Arg165Gln)
NM_003107.3(SOX4):c.182G>A (p.Arg61Gln) rs1763098947
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003128.3(SPTBN1):c.3007C>T (p.Arg1003Trp) rs2103938644
NM_003235.5(TG):c.3847+1G>C
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_003470.3(USP7):c.841A>G (p.Lys281Glu) rs2141203936
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter) rs775898119
NM_003718.5(CDK13):c.2668C>T (p.Arg890Ter)
NM_003923.3(FOXH1):c.232A>G (p.Lys78Glu) rs143221196
NM_003977.4(AIP):c.645+2T>C rs1293512916
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe) rs2144178477
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp) rs1064795235
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr)
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) rs1603223158
NM_004208.4(AIFM1):c.1020G>T (p.Met340Ile)
NM_004281.4(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004329.3(BMPR1A):c.1217G>T (p.Arg406Leu) rs587780107
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004370.6(COL12A1):c.334+1G>A
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004586.3(RPS6KA3):c.1603-5A>G rs1569194162
NM_004700.4(KCNQ4):c.860G>T (p.Gly287Val) rs2148320011
NM_004722.4(AP4M1):c.544-8_544-3del rs1064794383
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004999.4(MYO6):c.3137+1G>A rs200713129
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005267.5(GJA8):c.565C>T (p.Pro189Ser) rs2149015924
NM_005422.4(TECTA):c.6016G>A (p.Asp2006Asn) rs2134215546
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_005450.6(NOG):c.125C>T (p.Pro42Leu) rs1018505000
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005515.4(MNX1):c.832C>T (p.Leu278Phe) rs370066878
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter) rs1447391811
NM_005861.4(STUB1):c.824del (p.Leu275fs) rs2039704654
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu) rs1235562712
NM_006005.3(WFS1):c.2311G>T (p.Asp771Tyr)
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) rs760631912
NM_006015.6(ARID1A):c.4101G>A (p.Gln1367=) rs2081109271
NM_006015.6(ARID1A):c.5125C>T (p.Leu1709Phe) rs2081163988
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) rs121434229
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) rs1064793154
NM_006147.4(IRF6):c.961G>A (p.Val321Met) rs2102536882
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006231.4(POLE):c.1020+1G>T rs1064794748
NM_006231.4(POLE):c.1021-26_1045delinsGTTCTACACC rs1555229232
NM_006231.4(POLE):c.1487del (p.Gly496fs) rs1555228358
NM_006231.4(POLE):c.205-2A>G rs2043148194
NM_006231.4(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.4(POLE):c.4149+2T>C rs1064796760
NM_006231.4(POLE):c.4290+1G>A rs1565940214
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.5553-1G>A rs1064796152
NM_006231.4(POLE):c.6136+1G>T rs1593708662
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) rs1085308009
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys) rs2124448063
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del) rs755783378
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006941.4(SOX10):c.323T>C (p.Met108Thr) rs1932464492
NM_007055.4(POLR3A):c.3014G>T (p.Arg1005Leu) rs200118797
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007215.4(POLG2):c.873C>G (p.Tyr291Ter) rs1555668353
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro) rs879254042
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) rs780680047
NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer) rs1555229978
NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys) rs763261995
NM_014053.4(FLVCR1):c.1593+5_1593+8del rs771159212
NM_014305.4(TGDS):c.270_271del (p.Lys91fs) rs727502809
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_015202.5(KATNIP):c.2788C>T (p.Gln930Ter)
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015447.4(CAMSAP1):c.2638C>T (p.Gln880Ter)
NM_015629.4(PRPF31):c.682G>C (p.Ala228Pro) rs2146421585
NM_015915.5(ATL1):c.781_782insA (p.Phe261fs) rs1181733510
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) rs587777127
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln) rs1561586322
NM_017635.5(KMT5B):c.2597_2598del (p.Ser866fs) rs888239971
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) rs1297388989
NM_021871.4(FGA):c.1718G>T (p.Arg573Leu) rs78506343
NM_021939.4(FKBP10):c.1015C>T (p.Arg339Trp) rs377642451
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
NM_023110.3(FGFR1):c.2153G>A (p.Arg718His) rs1415925468
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro) rs754120063
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_032415.7(CARD11):c.128C>T (p.Thr43Met) rs2115094112
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu) rs368625962
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_052876.4(NACC1):c.71G>A (p.Arg24Gln)
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) rs755700896
NM_080680.3(COL11A2):c.1179+1G>A
NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) rs1951433087
NM_133459.4(CCBE1):c.213-1G>A rs201030273
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter) rs149648640
NM_139276.3(STAT3):c.82A>G (p.Met28Val) rs2145013673
NM_144573.4(NEXN):c.1878dup (p.Asp627fs) rs2102181621
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln) rs1468206811
NM_145331.3(MAP3K7):c.820C>T (p.Arg274Cys) rs2127974439
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_175914.5(HNF4A):c.239G>A (p.Cys80Tyr) rs2146375487
NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys) rs483353059
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln) rs1332489637
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr) rs1764627724
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly) rs2102658767

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