ClinVar Miner

List of variants reported as likely pathogenic by University of Washington Center for Mendelian Genomics, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1128
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys) rs76187047 0.01292
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_003241.4(TGM4):c.806G>A (p.Trp269Ter) rs139860990 0.00762
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_194251.3(GPR151):c.283C>T (p.Arg95Ter) rs114285050 0.00569
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) rs138075452 0.00342
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_144666.3(DNHD1):c.2839G>T (p.Glu947Ter) rs180918289 0.00295
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_024072.4(DDX54):c.856G>A (p.Val286Met) rs148961522 0.00241
NM_032423.3(ZNF528):c.1282C>T (p.Arg428Ter) rs150257846 0.00231
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr) rs150681845 0.00170
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037 0.00051
NM_025103.4(IFT74):c.120+2dup rs551515830 0.00048
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val) rs145160241 0.00038
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211 0.00029
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738 0.00024
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr) rs201518882 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_001039374.5(CCDC183):c.1025G>A (p.Trp342Ter) rs749875462 0.00019
NM_002386.4(MC1R):c.512C>G (p.Ala171Gly) rs373224783 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_015058.2(VWA8):c.2451G>A (p.Thr817=) rs372532526 0.00012
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
NM_177924.5(ASAH1):c.1154T>C (p.Leu385Pro) rs368345612 0.00011
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His) rs121434407 0.00010
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys) rs745512025 0.00010
NM_025129.5(FUZ):c.98_111+9del rs548706733 0.00010
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys) rs183911558 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_005560.6(LAMA5):c.4213G>A (p.Ala1405Thr) rs779995373 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911 0.00008
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn) rs199583537 0.00008
NM_006907.4(PYCR1):c.633+1G>C rs144346996 0.00008
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) rs1196317554 0.00006
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) rs367943249 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716 0.00006
NM_016011.5(MECR):c.830+2dup rs756421370 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_001100818.2(PID1):c.586G>A (p.Asp196Asn) rs375488219 0.00005
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132 0.00005
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236 0.00005
NM_006765.4(TUSC3):c.714A>G (p.Ile238Met) rs773936260 0.00005
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp) rs776300442 0.00005
NM_025077.4(TOE1):c.757C>T (p.Arg253Trp) rs368182654 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val) rs774078839 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) rs752358009 0.00004
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val) rs759274321 0.00004
NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu) rs567875341 0.00004
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys) rs777021265 0.00004
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro) rs150433582 0.00004
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln) rs761391585 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter) rs371940321 0.00004
NM_005560.6(LAMA5):c.6148C>T (p.Arg2050Cys) rs377244239 0.00004
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) rs139751598 0.00004
NM_006946.4(SPTBN2):c.4444C>T (p.Arg1482Trp) rs373270554 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_015058.2(VWA8):c.4558C>T (p.Arg1520Ter) rs370112959 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_019109.5(ALG1):c.1072G>C (p.Gly358Arg) rs886042742 0.00004
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe) rs200605408 0.00004
NM_019109.5(ALG1):c.221A>T (p.His74Leu) rs201337379 0.00004
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile) rs761543680 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp) rs765269946 0.00003
NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe) rs775782206 0.00003
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034 0.00003
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648 0.00003
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612 0.00003
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00003
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841 0.00003
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305 0.00003
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400 0.00003
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) rs752185665 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter) rs759511516 0.00003
NM_007055.4(POLR3A):c.1572+1G>A rs141484643 0.00003
NM_015650.4(TRAF3IP1):c.1368-1del rs764906529 0.00003
NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys) rs769651861 0.00003
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571 0.00003
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789 0.00003
NM_018718.3(CEP41):c.725G>A (p.Arg242His) rs191246968 0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter) rs781631629 0.00003
NM_025077.4(TOE1):c.219G>C (p.Arg73Ser) rs774056037 0.00003
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) rs148067486 0.00003
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_194248.3(OTOF):c.4799+1G>A rs200147906 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459 0.00002
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001256317.3(TMPRSS3):c.271C>T (p.Arg91Ter) rs199903164 0.00002
NM_001273.5(CHD4):c.1481C>T (p.Thr494Met) rs375234607 0.00002
NM_001273.5(CHD4):c.5221A>G (p.Ile1741Val) rs1229933151 0.00002
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp) rs370676288 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter) rs369658526 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu) rs373521030 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) rs772211450 0.00002
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876 0.00002
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004447.6(EPS8):c.205-8A>G rs180899529 0.00002
NM_005560.6(LAMA5):c.7975C>T (p.Arg2659Trp) rs201012962 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124 0.00002
NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp) rs749960549 0.00002
NM_013292.5(MYL11):c.469T>C (p.Cys157Arg) rs748809300 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863 0.00002
NM_015949.3(GET4):c.365G>A (p.Arg122His) rs1268790820 0.00002
NM_016011.5(MECR):c.695G>A (p.Gly232Glu) rs762913101 0.00002
NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys) rs782785654 0.00002
NM_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_019109.5(ALG1):c.1188-2A>G rs794727073 0.00002
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs) rs746019074 0.00002
NM_019109.5(ALG1):c.841G>T (p.Val281Phe) rs553396382 0.00002
NM_022152.6(TMBIM1):c.827G>A (p.Arg276Gln) rs1404218898 0.00002
NM_024072.4(DDX54):c.1832G>A (p.Arg611Gln) rs777276705 0.00002
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364 0.00002
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln) rs576405108 0.00002
NM_032656.4(DHX37):c.2191G>A (p.Val731Met) rs754186165 0.00002
NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr) rs758546717 0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
NM_144777.3(SCEL):c.175G>A (p.Gly59Ser) rs34794176 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328 0.00001
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) rs570914443 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437 0.00001
NM_000441.2(SLC26A4):c.2106del (p.Lys702fs) rs1374832271 0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565 0.00001
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560 0.00001
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly) rs387907088 0.00001
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) rs367688416 0.00001
NM_001102564.3(IFT43):c.2T>A (p.Met1Lys) rs769724508 0.00001
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135 0.00001
NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter) rs956457873 0.00001
NM_001159773.2(CANT1):c.511A>T (p.Ile171Phe) rs1014317450 0.00001
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp) rs992324423 0.00001
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter) rs758677637 0.00001
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg) rs1301705612 0.00001
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249 0.00001
NM_001256317.3(TMPRSS3):c.581G>T (p.Cys194Phe) rs1333651774 0.00001
NM_001256317.3(TMPRSS3):c.767C>T (p.Ala256Val) rs1306292205 0.00001
NM_001273.5(CHD4):c.5638C>T (p.Pro1880Ser) rs1947956104 0.00001
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu) rs1691236972 0.00001
NM_001329630.2(PLEKHA7):c.1537C>T (p.Arg513Trp) rs201543002 0.00001
NM_001330691.3(CEP78):c.22C>T (p.Arg8Cys) rs1314816485 0.00001
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys) rs753432312 0.00001
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931 0.00001
NM_001363118.2(SLC52A2):c.968T>C (p.Leu323Pro) rs781842708 0.00001
NM_001363711.2(DUOX2):c.4171C>G (p.Pro1391Ala) rs771198569 0.00001
NM_001374736.1(DST):c.19466C>T (p.Ala6489Val) rs766294952 0.00001
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00001
NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs) rs756811136 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) rs373335226 0.00001
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) rs755305630 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys) rs1461272672 0.00001
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) rs756556129 0.00001
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro) rs1555061205 0.00001
NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile) rs1322884865 0.00001
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) rs762588952 0.00001
NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser) rs1555064376 0.00001
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428 0.00001
NM_001377.3(DYNC2H1):c.767-2A>G rs762873763 0.00001
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys) rs758155107 0.00001
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp) rs964711006 0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635 0.00001
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) rs747857715 0.00001
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys) rs969015057 0.00001
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) rs780600124 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482 0.00001
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly) rs863225088 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_002133.3(HMOX1):c.636+2T>A rs747083748 0.00001
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile) rs1582940678 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro) rs1213841516 0.00001
NM_005787.6(ALG3):c.521A>G (p.Asn174Ser) rs1719068613 0.00001
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu) rs756802179 0.00001
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) rs911707459 0.00001
NM_006907.4(PYCR1):c.213_214del (p.Lys71fs) rs1239327109 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755 0.00001
NM_007055.4(POLR3A):c.3337-5T>A rs368905417 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) rs775551492 0.00001
NM_013432.5(TONSL):c.1958C>T (p.Thr653Met) rs755055463 0.00001
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) rs769100855 0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416 0.00001
NM_013432.5(TONSL):c.3796dup (p.Arg1266fs) rs782733226 0.00001
NM_013432.5(TONSL):c.460C>T (p.Gln154Ter) rs1026265047 0.00001
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) rs1335783881 0.00001
NM_015395.3(TECPR1):c.2899C>T (p.Arg967Cys) rs376512300 0.00001
NM_015650.4(TRAF3IP1):c.988-1G>C rs372499275 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869 0.00001
NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) rs759218713 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667 0.00001
NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter) rs1456300819 0.00001
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs) rs748645101 0.00001
NM_019055.6(ROBO4):c.703G>A (p.Val235Met) rs776228672 0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp) rs16835020 0.00001
NM_019109.5(ALG1):c.262T>G (p.Leu88Val) rs794727301 0.00001
NM_019109.5(ALG1):c.866A>G (p.Asp289Gly) rs1180515976 0.00001
NM_020320.5(RARS2):c.1650+5G>A rs750433723 0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) rs1258569046 0.00001
NM_020779.4(WDR35):c.1400+3A>G rs776631281 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_022041.4(GAN):c.1055A>G (p.Asn352Ser) rs779203584 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser) rs780917129 0.00001
NM_024072.4(DDX54):c.58T>A (p.Trp20Arg) rs774035439 0.00001
NM_024592.5(SRD5A3):c.562+3del rs752307253 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) rs1553516687 0.00001
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His) rs1453462442 0.00001
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) rs371848318 0.00001
NM_025077.4(TOE1):c.518T>G (p.Val173Gly) rs777030573 0.00001
NM_025077.4(TOE1):c.716T>C (p.Phe239Ser) rs778263701 0.00001
NM_025077.4(TOE1):c.955C>T (p.His319Tyr) rs750266350 0.00001
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469 0.00001
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486 0.00001
NM_025130.4(HKDC1):c.2302C>T (p.Arg768Ter) rs759709025 0.00001
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056 0.00001
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282 0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln) rs200876642 0.00001
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu) rs765574676 0.00001
NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) rs1424699115 0.00001
NM_032656.4(DHX37):c.3281C>T (p.Thr1094Met) rs1277857720 0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro) rs1554770620 0.00001
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441 0.00001
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074 0.00001
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter) rs777777359 0.00001
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp) rs200656442 0.00001
NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter) rs368652620 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys) rs28942096 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn) rs538983393 0.00001
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) rs763320093 0.00001
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) rs762876554 0.00001
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) rs397515605 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NM_199351.3(ILDR2):c.1049G>A (p.Arg350His) rs754861502 0.00001
GRCh37/hg19 1p36.11(chr1:27001498-27110331)x3
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
GRCh37/hg19 Xp22.31(chrX:6454182-8115193)x1
NC_000016.10:g.5071998A>G rs794726944
NM_000088.4(COL1A1):c.64G>C (p.Gly22Arg) rs72667007
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe) rs1566894230
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp) rs765692335
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) rs1591002808
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) rs1565402473
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs) rs1955319492
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) rs1565430886
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) rs750358148
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.5326+3A>G rs1565469959
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) rs746667217
NM_000260.4(MYO7A):c.5856+5G>C rs1386887007
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser) rs1566767423
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1182+2dup rs1567200202
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1951+4A>G rs759740402
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu) rs200457227
NM_000275.3(OCA2):c.987delinsAGA (p.Gln330fs) rs1566797858
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000346.4(SOX9):c.1177C>T (p.Gln393Ter) rs1598176852
NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter) rs1057518216
NM_000346.4(SOX9):c.1234C>T (p.Gln412Ter) rs1341243329
NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter) rs1324081394
NM_000372.5(TYR):c.1037-18T>G rs781052288
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1184+2T>C rs758119014
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.223G>T (p.Asp75Tyr) rs1565386425
NM_000372.5(TYR):c.585G>A (p.Trp195Ter) rs147574809
NM_000372.5(TYR):c.943_948del (p.Ser315_Ala316del) rs1565391977
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)
NM_000427.3(LORICRIN):c.619G>T (p.Gly207Cys) rs769843541
NM_000430.3:c.(32+1_33-1)_(399+1_400-1)del
NM_000430.3:c.(568+1_569-1)_(671+1_672-1)del
NM_000430.3:c.(?_-30)_(*220_?)del
NM_000430.4(PAFAH1B1):c.1044dup (p.Gly349fs) rs2069358559
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) rs587784241
NM_000430.4(PAFAH1B1):c.154dup (p.Glu52fs) rs2069103320
NM_000430.4(PAFAH1B1):c.19C>T (p.Gln7Ter) rs2068649745
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.680_681del (p.Val227fs) rs2069226261
NM_000430.4(PAFAH1B1):c.721del (p.Arg241fs) rs2069227227
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1264-3C>G rs1562835391
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) rs1562817529
NM_000441.2(SLC26A4):c.413T>A (p.Val138Asp) rs1790890770
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.42del (p.Glu15fs) rs1562817224
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu) rs1349370504
NM_000550.3(TYRP1):c.256G>T (p.Asp86Tyr) rs1563851602
NM_000720.4(CACNA1D):c.1208_1209insGGG (p.Gly403dup) rs398122827
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_001003722.2(GLE1):c.2078C>T (p.Ser693Phe) rs1564162129
NM_001005361.3(DNM2):c.2204T>C (p.Ile735Thr) rs2073249488
NM_001011718.2(XKR7):c.1475G>A (p.Arg492His) rs748725549
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001038603.3(MARVELD2):c.1138C>T (p.Gln380Ter) rs1766596437
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs) rs1561299289
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) rs771696726
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001042475.3(CEP85L):c.172A>T (p.Ser58Cys) rs1774230502
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn) rs1774229245
NM_001042475.3(CEP85L):c.1A>T (p.Met1Leu) rs1775537638
NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr) rs1774228957
NM_001042475.3(CEP85L):c.205G>A (p.Gly69Arg) rs1774228815
NM_001042475.3(CEP85L):c.232+1G>T rs1774227158
NM_001042475.3(CEP85L):c.232+3G>T rs754052089
NM_001042475.3(CEP85L):c.232+5G>A rs1774226763
NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr) rs1775537467
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter) rs1641565884
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter) rs538027448
NM_001042702.5(PJVK):c.162_172del (p.Pro55fs) rs1559366084
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) rs1559372512
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) rs886037663
NM_001070.5(TUBG1):c.769A>T (p.Ile257Phe) rs770355511
NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu) rs1555631383
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter) rs267606855
NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys) rs1560690591
NM_001080517.3(SETD5):c.1015G>T (p.Asp339Tyr) rs1553621754
NM_001080517.3(SETD5):c.1981del (p.Glu661fs) rs2042197714
NM_001083961.2(WDR62):c.2520+5G>T rs754976942
NM_001083961.2(WDR62):c.3361del (p.Ala1121fs) rs1973468140
NM_001085458.2(CTNND1):c.1496A>G (p.Asp499Gly) rs1314067686
NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp) rs780642639
NM_001085458.2(CTNND1):c.2088G>T (p.Trp696Cys) rs2062949363
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001099922.3(ALG13):c.204AGA[1] (p.Glu69del) rs2147626590
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) rs2148407095
NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) rs1569508922
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg) rs1555369050
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001127392.3(MYRF):c.1160T>C (p.Phe387Ser) rs2066302424
NM_001127392.3(MYRF):c.1209G>C (p.Gln403His) rs1027079885
NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg) rs1565295550
NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val) rs2066382188
NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter) rs762143393
NM_001127392.3(MYRF):c.1904-1G>A rs2066445430
NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala) rs2066476390
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
NM_001127392.3(MYRF):c.239dup (p.Gly81fs) rs2066051319
NM_001130053.5(EEF1D):c.1099A>G (p.Met367Val) rs1826751784
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) rs1565819402
NM_001145026.2(PTPRQ):c.6739-1G>A rs1565855932
NM_001145678.3(KIAA0825):c.591dup (p.Gln198fs) rs1562587032
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001163278.2(TENM1):c.4874T>G (p.Leu1625Arg) rs2060637524
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His) rs869320711
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164664.2(MAST4):c.3475C>T (p.Arg1159Trp) rs77194622
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe) rs1692190479
NM_001190274.2(FBXO11):c.1042-1G>C rs1572806589
NM_001190274.2(FBXO11):c.1260+1G>C rs1672276134
NM_001190274.2(FBXO11):c.1612A>G (p.Ile538Val) rs1553338592
NM_001190274.2(FBXO11):c.1825_1829del (p.Glu608_Glu609insTer) rs1671197579
NM_001190274.2(FBXO11):c.1868C>G (p.Thr623Arg) rs1671196392
NM_001190274.2(FBXO11):c.2084-1G>A rs1670754178
NM_001190274.2(FBXO11):c.2084-6_2085dup rs1670753929
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro) rs1553335247
NM_001190274.2(FBXO11):c.2675C>A (p.Ala892Asp) rs1670358755
NM_001190274.2(FBXO11):c.2700_2703dup (p.Ala902fs) rs1670356870
NM_001190274.2(FBXO11):c.2709dup (p.Glu904Ter) rs1553334874
NM_001190274.2(FBXO11):c.2714C>G (p.Pro905Arg) rs1670356255
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) rs1553334863
NM_001190274.2(FBXO11):c.319_320del (p.Leu107fs) rs1672866585
NM_001190274.2(FBXO11):c.414A>T (p.Arg138Ser) rs1553342109
NM_001190274.2(FBXO11):c.467A>G (p.Gln156Arg) rs1672806975
NM_001190274.2(FBXO11):c.506_507del (p.Ser169fs) rs1672803381
NM_001195553.2(DCX):c.233G>T (p.Arg78Leu) rs104894784
NM_001195553.2(DCX):c.289C>G (p.Leu97Val) rs1928574753
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter) rs587783592
NM_001197104.2(KMT2A):c.5363+1del rs1950378051
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs) rs1554053289
NM_001199397.3(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.3(NEK1):c.1992del (p.Val665fs) rs775849720
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.2886-1G>A rs773496891
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1137del (p.Glu379fs) rs2071390190
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs) rs1559870857
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) rs387907016
NM_001203.3(BMPR1B):c.1190T>G (p.Met397Arg) rs1734835445
NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG (p.Pro3996_Cys3997delinsGlyLeuGly) rs2144460572
NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn) rs1555675538
NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg) rs2079442813
NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del) rs797045187
NM_001256071.3(RNF213):c.12360C>G (p.Phe4120Leu) rs2079443609
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.783-1G>T rs1237955948
NM_001256470.2(PLEKHA5):c.1787A>G (p.Tyr596Cys) rs779785581
NM_001267550.2(TTN):c.92478dup (p.Val30827fs) rs2154147931
NM_001273.5(CHD4):c.1686+1G>T rs1948532502
NM_001273.5(CHD4):c.22C>T (p.Pro8Ser) rs1948698590
NM_001273.5(CHD4):c.3533C>T (p.Ala1178Val) rs1435884753
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs) rs1980878343
NM_001287491.2(TET3):c.1215del (p.Trp406fs) rs1573779765
NM_001287491.2(TET3):c.2552C>T (p.Thr851Met) rs1573856970
NM_001287491.2(TET3):c.2722G>T (p.Val908Leu) rs1227643933
NM_001287491.2(TET3):c.3215T>G (p.Phe1072Cys) rs1573906351
NM_001287491.2(TET3):c.3226G>A (p.Ala1076Thr) rs1573906389
NM_001287491.2(TET3):c.4977_4983del (p.His1660fs) rs1572907400
NM_001287491.2(TET3):c.5083C>T (p.Gln1695Ter) rs1572907595
NM_001291415.2(KDM6A):c.250A>G (p.Ile84Val) rs1373790479
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs) rs1565127413
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter) rs1885329722
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter) rs1463041654
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys) rs759684383
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter) rs745704336
NM_001329630.2(PLEKHA7):c.1631G>A (p.Gly544Asp) rs768861538
NM_001329630.2(PLEKHA7):c.1985A>G (p.Asp662Gly) rs1849496525
NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter) rs1553709881
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001352754.2(ARMC9):c.1474+1G>C rs1114167448
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter) rs372770167
NM_001352754.2(ARMC9):c.51+5G>T rs1114167447
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr) rs1569240005
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) rs1569295677
NM_001367721.1(CASK):c.2156-1G>A rs1569291261
NM_001367721.1(CASK):c.533-2A>G rs1569380062
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001367871.1(FBRSL1):c.1522C>G (p.Gln508Glu) rs2040109939
NM_001371928.1(AHDC1):c.997del (p.Ala333fs) rs1557667078
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter) rs1554301257
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys) rs1369594791
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp) rs2048519381
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro) rs797045529
NM_001376.5(DYNC1H1):c.11311G>A (p.Glu3771Lys) rs2048611744
NM_001376.5(DYNC1H1):c.11941+2T>A rs1595630836
NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro) rs797045178
NM_001376.5(DYNC1H1):c.2003T>A (p.Val668Asp) rs2047935205
NM_001376.5(DYNC1H1):c.2321T>C (p.Leu774Pro) rs2047938879
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.7813_7815del (p.Leu2605del) rs2048330550
NM_001376.5(DYNC1H1):c.915A>T (p.Lys305Asn) rs1566996726
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) rs797045177
NM_001376007.1(SLFN11):c.2603T>C (p.Ile868Thr) rs1203408796
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys) rs200710887
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu) rs1555081345
NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter) rs1565438488
NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter) rs1555082470
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) rs764769351
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) rs1555143920
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del) rs773897318
NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro) rs555339053
NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn) rs1555041449
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=) rs896105030
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His) rs1555050986
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn) rs1555054771
NM_001377.3(DYNC2H1):c.5129T>A (p.Val1710Asp) rs777396565
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) rs1332318318
NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr) rs780855765
NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu) rs1555060411
NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe) rs1243999036
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6634-2A>G rs1555060940
NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys) rs1384888093
NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg) rs1555061228
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr) rs1555062340
NM_001377.3(DYNC2H1):c.7438-2A>G rs1555063811
NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His) rs1386343205
NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del) rs1555066796
NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu) rs200614421
NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu) rs1214801816
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270
NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser) rs1565394086
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) rs1555071484
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.9710-2A>G rs1555077194
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala) rs1210999092
NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu) rs1946508324
NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter) rs1946406410
NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr) rs1946512581
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly) rs397515327
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.419A>G (p.Tyr140Cys) rs777142166
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter) rs1951071576
NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg) rs1488808726
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe) rs1557668270
NM_001394062.1(MACF1):c.21877G>T (p.Asp7293Tyr) rs1557670503
NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly) rs1557670515
NM_001394062.1(MACF1):c.21884G>T (p.Cys7295Phe) rs1557670520
NM_001394998.1(TANC2):c.1441+1G>A rs2045256930
NM_001394998.1(TANC2):c.2571_2572dup (p.Cys858fs) rs2046750269
NM_001394998.1(TANC2):c.3003del (p.Ala1002fs) rs2047893330
NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter) rs2048464266
NM_001394998.1(TANC2):c.3765+1G>T rs2048707664
NM_001394998.1(TANC2):c.4080del (p.Glu1361fs) rs2048834387
NM_001394998.1(TANC2):c.4268+2T>G rs2048929422
NM_001394998.1(TANC2):c.4450C>T (p.Gln1484Ter) rs780968730
NM_001394998.1(TANC2):c.4657del (p.Arg1553fs) rs2048988947
NM_001394998.1(TANC2):c.4699C>T (p.Gln1567Ter) rs764041869
NM_001394998.1(TANC2):c.4701del (p.Gln1567fs) rs2048990416
NM_001394998.1(TANC2):c.4965_4968del (p.Gln1656fs) rs2048999762
NM_001394998.1(TANC2):c.5571_5596dup (p.Phe1866delinsCysIleProLysValTer) rs2049017627
NM_001394998.1(TANC2):c.769+1G>A rs1419550439
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001619.5(GRK2):c.1348_1349del (p.Ser450fs) rs2136504839
NM_001619.5(GRK2):c.555+1G>A rs2136501226
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001733.7(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly) rs797044870
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln) rs1553196096
NM_001791.4(CDC42):c.242G>T (p.Cys81Phe) rs1553196100
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro) rs1553196101
NM_001791.4(CDC42):c.476C>T (p.Ala159Val) rs1553196134
NM_001791.4(CDC42):c.511G>A (p.Glu171Lys) rs1553196539
NM_001791.4(CDC42):c.62T>C (p.Ile21Thr) rs1064795845
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) rs1599017933
NM_001792.5(CDH2):c.1789G>A (p.Asp597Asn) rs1599011050
NM_001792.5(CDH2):c.1880A>G (p.Asp627Gly) rs1599010918
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs) rs1598982488
NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs) rs1598982483
NM_001853.4(COL9A3):c.651dup (p.Pro218fs) rs2063547889
NM_002016.2(FLG):c.10459A>T (p.Arg3487Ter) rs1396693199
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) rs869312822
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) rs869312826
NM_002236.5(KCNF1):c.845T>C (p.Leu282Pro) rs1661571229
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg) rs1236962991
NM_002334.4(LRP4):c.4207G>C (p.Asp1403His) rs1940965143
NM_002334.4(LRP4):c.4690C>A (p.Gln1564Lys) rs1940862694
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.517GTC[1] (p.Val174del) rs747777879
NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter) rs143395134
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002419.4(MAP3K11):c.847G>A (p.Ala283Thr) rs746476599
NM_002430.3(MN1):c.1091dup (p.Pro365fs) rs1933387717
NM_002430.3(MN1):c.1415C>A (p.Ser472Ter) rs1933378166
NM_002430.3(MN1):c.3730_3731insAAGAC (p.Thr1244fs) rs1933304057
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) rs761317200
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter) rs1933302820
NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter) rs1601319615
NM_002430.3(MN1):c.3839del (p.Cys1280fs) rs1601319594
NM_002430.3(MN1):c.3849_3850delinsA (p.His1284fs) rs1932759453
NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter) rs1601319538
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.3893_3894dup (p.Pro1299fs) rs1932758837
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002430.3(MN1):c.536del (p.Ser178_Ser179insTer) rs1933401338
NM_002470.4(MYH3):c.1934T>G (p.Phe645Cys) rs1567557697
NM_002470.4(MYH3):c.2699del (p.Leu900fs) rs1567556169
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166
NM_002582.4(PARN):c.1257del (p.Phe419fs) rs942538351
NM_002582.4(PARN):c.565G>T (p.Glu189Ter) rs1596848231
NM_002582.4(PARN):c.620+5G>A rs1971361795
NM_002582.4(PARN):c.887_888del (p.Thr296fs) rs1970309647
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002700.3(POU4F3):c.374C>T (p.Pro125Leu) rs1561590396
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_003105.6(SORL1):c.2878C>G (p.Leu960Val) rs770704659
NM_003107.3(SOX4):c.176T>G (p.Ile59Ser) rs1582601669
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu) rs1334099693
NM_003107.3(SOX4):c.315G>T (p.Lys105Asn) rs1582601747
NM_003107.3(SOX4):c.334G>C (p.Ala112Pro) rs1464282327
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu) rs2038452898
NM_003482.4(KMT2D):c.6040C>T (p.Gln2014Ter) rs1943567949
NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu) rs1582953009
NM_003587.5(DHX16):c.2021C>T (p.Thr674Met) rs1582931908
NM_003587.5(DHX16):c.2091G>T (p.Gln697His) rs1582931640
NM_003591.4(CUL2):c.2192T>C (p.Ile731Thr) rs2084869461
NM_003680.4(YARS1):c.806T>C (p.Phe269Ser) rs1653248260
NM_003805.5(CRADD):c.285dup (p.Asp96fs) rs1555213545
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter) rs150529554
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val) rs1557458426
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys) rs1567508990
NM_004360.5(CDH1):c.1766A>T (p.Asn589Ile) rs1367108095
NM_004360.5(CDH1):c.2426_2427del (p.Asn809fs) rs1961434061
NM_004360.5(CDH1):c.752C>T (p.Thr251Met) rs1454205778
NM_004360.5(CDH1):c.760G>A (p.Asp254Asn) rs1555515445
NM_004360.5(CDH1):c.768T>A (p.Asn256Lys) rs759207947
NM_004380.3(CREBBP):c.5609CCA[1] (p.Thr1871del) rs2151309510
NM_004606.5(TAF1):c.1A>T (p.Met1Leu) rs2148106783
NM_004727.3(SLC24A1):c.635A>G (p.His212Arg) rs2074441517
NM_004879.5(EI24):c.742C>T (p.Pro248Ser) rs1938981293
NM_005026.5(PIK3CD):c.2341G>A (p.Gly781Arg) rs1648809005
NM_005045.4(RELN):c.1249C>T (p.Gln417Ter) rs1487246488
NM_005045.4(RELN):c.3205del (p.Ile1069fs) rs1831726447
NM_005045.4(RELN):c.6325C>T (p.Gln2109Ter) rs1830268919
NM_005045.4(RELN):c.6613_6614del (p.Phe2205fs) rs1830201852
NM_005045.4(RELN):c.8489+4_8489+7del rs794727753
NM_005087.4(FXR1):c.1772T>A (p.Ile591Asn) rs754901294
NM_005126.5(NR1D2):c.523C>T (p.Arg175Trp) rs1358487339
NM_005157.6(ABL1):c.292G>T (p.Glu98Ter) rs1830947762
NM_005236.3(ERCC4):c.388+1164_792+795del
NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu) rs1555685159
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs) rs773573968
NM_005422.4(TECTA):c.1774G>A (p.Val592Met) rs1565522273
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.4(TECTA):c.6162+5G>A rs1565541888
NM_005422.4(TECTA):c.840_841insT (p.Val281fs) rs1565519673
NM_005445.4(SMC3):c.2413C>T (p.Arg805Cys) rs760111391
NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala) rs1411192932
NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu) rs2108442073
NM_005811.5(GDF11):c.893G>A (p.Arg298Gln) rs1878258280
NM_005881.4(BCKDK):c.646_649del (p.Asp216fs) rs2057404166
NM_005898.5(CAPRIN1):c.811C>T (p.Gln271Ter) rs1276785065
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) rs137853044
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) rs1565627707
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006086.4(TUBB3):c.1163T>C (p.Met388Thr) rs2030427823
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs) rs1686821540
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) rs370965183
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg) rs578205635
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys) rs1554166844
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro) rs373832683
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser) rs1822869930
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly) rs1753847242
NM_006885.4(ZFHX3):c.3432C>A (p.Cys1144Ter) rs2038723552
NM_006907.4(PYCR1):c.220dup (p.Ile74fs) rs2041157397
NM_006907.4(PYCR1):c.772G>C (p.Val258Leu) rs2041095858
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.3337-1G>A rs1041175828
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.490+1G>A rs1564623882
NM_007107.5(SSR3):c.278_281del (p.Glu93fs) rs1719856599
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_012090.5(MACF1):c.10617+444_15577-288del
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser) rs1391534565
NM_012213.3(MLYCD):c.1059dup (p.Leu354fs) rs1907323150
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) rs1569234334
NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs) rs1846092532
NM_013292.5(MYL11):c.470G>T (p.Cys157Phe) rs756765686
NM_013292.5(MYL11):c.487G>A (p.Gly163Ser) rs2049768364
NM_013292.5(MYL11):c.98C>T (p.Ala33Val) rs2049733161
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu) rs755804651
NM_013409.3(FST):c.167G>A (p.Cys56Tyr) rs1747328996
NM_013432.5(TONSL):c.122-5C>G rs1341244760
NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs) rs1586692058
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu) rs778625348
NM_013432.5(TONSL):c.1864dup (p.Ala622fs) rs762903420
NM_013432.5(TONSL):c.2137C>T (p.Gln713Ter) rs1823455124
NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs) rs1586687279
NM_013432.5(TONSL):c.3096dup (p.Gln1033fs) rs1823342505
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter) rs1002531030
NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro) rs1586681982
NM_013432.5(TONSL):c.866-1G>C rs1424148372
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln) rs766053952
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014053.4(FLVCR1):c.785A>C (p.Asn262Thr) rs547679833
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=) rs1558104145
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del) rs1555266475
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) rs1559720382
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014516.4(CNOT3):c.1564C>A (p.Leu522Ile) rs2074949880
NM_014516.4(CNOT3):c.643C>T (p.Gln215Ter) rs2074638284
NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser) rs549149043
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro) rs764483792
NM_014681.6(DHX34):c.466C>T (p.Gln156Ter) rs1599751192
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014727.3(KMT2B):c.6439C>T (p.Gln2147Ter) rs2146469485
NM_014850.4(SRGAP3):c.2281C>T (p.Arg761Cys) rs1033693138
NM_014920.5(CILK1):c.238G>A (p.Glu80Lys) rs868310475
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter) rs1749810683
NM_015021.3(ZNF292):c.1160del (p.Arg387fs) rs1775120706
NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter) rs1215967523
NM_015021.3(ZNF292):c.1567C>T (p.Gln523Ter) rs1775143865
NM_015021.3(ZNF292):c.2170del (p.Cys724fs) rs1775179321
NM_015021.3(ZNF292):c.2490_2494dup (p.Ser832fs) rs1775194783
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter) rs865909396
NM_015021.3(ZNF292):c.2814_2821dup (p.Val941fs) rs1775218146
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs) rs1135401779
NM_015021.3(ZNF292):c.3460_3463del (p.Val1154fs) rs1775264625
NM_015021.3(ZNF292):c.3709dup (p.Thr1237fs) rs1775284293
NM_015021.3(ZNF292):c.3724del (p.Gln1242fs) rs1775285095
NM_015021.3(ZNF292):c.3812C>A (p.Ser1271Ter) rs772762833
NM_015021.3(ZNF292):c.433del (p.Ser145fs) rs1772907934
NM_015021.3(ZNF292):c.4417dup (p.Ser1473fs) rs1775334064
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter) rs1775368255
NM_015021.3(ZNF292):c.5185C>T (p.Gln1729Ter) rs1280838951
NM_015021.3(ZNF292):c.5515_5569del (p.Glu1839fs) rs1775415071
NM_015021.3(ZNF292):c.5959_5965dup (p.Gly1989fs) rs1775442122
NM_015021.3(ZNF292):c.6142_6145del (p.Lys2048fs) rs764995318
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015021.3(ZNF292):c.6279dup (p.Arg2094fs) rs1775468280
NM_015021.3(ZNF292):c.6343C>T (p.Arg2115Ter) rs866467799
NM_015021.3(ZNF292):c.6541C>T (p.Arg2181Ter) rs377387515
NM_015058.2(VWA8):c.3676-7T>C rs1566417012
NM_015058.2(VWA8):c.4690G>C (p.Val1564Leu) rs73464952
NM_015100.4(POGZ):c.1679-3C>G rs376091120
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp) rs1653514334
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter) rs2011568558
NM_015338.6(ASXL1):c.3856C>T (p.Gln1286Ter) rs2011901554
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter) rs754129466
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs) rs1564113368
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro) rs1563183469
NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys) rs146820102
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015693.4(INTU):c.396del (p.Asn132fs) rs1553970289
NM_015910.7(WDPCP):c.526_527del (p.Leu176fs) rs1575420160
NM_015949.3(GET4):c.837A>G (p.Ile279Met) rs1844404490
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870
NM_016006.6(ABHD5):c.836del (p.Gln279fs) rs773892644
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys) rs76483206
NM_016011.5(MECR):c.247_250del (p.Asn83fs) rs1057519287
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) rs1057519286
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter) rs767378045
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) rs779077039
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) rs1209665716
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) rs1567641234
NM_016239.4(MYO15A):c.8224+3A>G rs1057519605
NM_017412.4(FZD3):c.1616dup (p.Asp539fs) rs1563406024
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter) rs202235419
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs) rs1843262329
NM_017617.5(NOTCH1):c.2741-1G>A rs1843152606
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017649.5(CNNM2):c.1051G>C (p.Gly351Arg) rs1845547583
NM_017671.5(FERMT1):c.27del (p.Phe9fs) rs1983207985
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp) rs1403893283
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_018051.5(DYNC2I1):c.2503_2505dup (p.Arg835dup) rs1554478948
NM_018136.5(ASPM):c.9685del (p.Ile3229fs) rs199422192
NM_018294.6(CWF19L1):c.949C>T (p.Gln317Ter) rs1846799593
NM_018389.5(SLC35C1):c.887A>G (p.His296Arg) rs2134598287
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met) rs61745597
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro) rs946180222
NM_018718.3(CEP41):c.602C>G (p.Ser201Cys) rs146662384
NM_018718.3(CEP41):c.610A>G (p.Met204Val) rs782188831
NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter) rs2135366023
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp) rs1596259672
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu) rs1299775990
NM_019109.5(ALG1):c.1088G>C (p.Gly363Ala) rs1596261161
NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln) rs1596261208
NM_019109.5(ALG1):c.1101C>G (p.His367Gln) rs1428414601
NM_019109.5(ALG1):c.1145T>A (p.Met382Lys) rs1596261268
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser) rs398124349
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_019109.5(ALG1):c.209-1G>C rs1270276368
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu) rs1596252105
NM_019109.5(ALG1):c.342G>C (p.Leu114Phe) rs1596252196
NM_019109.5(ALG1):c.450C>A (p.Ser150Arg) rs121908340
NM_019109.5(ALG1):c.626T>G (p.Ile209Ser) rs1596256204
NM_019109.5(ALG1):c.872A>T (p.Asp291Val) rs192564717
NM_019109.5(ALG1):c.961+1G>C rs373355236
NM_020338.4(ZMIZ1):c.1386dup (p.Thr463fs) rs1589590917
NM_020338.4(ZMIZ1):c.2610C>T (p.Ser870=) rs1231805222
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) rs1554817910
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs) rs777843533
NM_020338.4(ZMIZ1):c.2835del (p.Met946fs) rs1854806983
NM_020338.4(ZMIZ1):c.3021del (p.Phe1008fs) rs1855124785
NM_020338.4(ZMIZ1):c.3097-2A>G rs1589627138
NM_020338.4(ZMIZ1):c.3112dup (p.Thr1038fs) rs1589627206
NM_020338.4(ZMIZ1):c.859G>A (p.Ala287Thr) rs1472883107
NM_020338.4(ZMIZ1):c.887C>A (p.Thr296Lys) rs1589579476
NM_020338.4(ZMIZ1):c.887C>T (p.Thr296Ile) rs1589579476
NM_020338.4(ZMIZ1):c.893C>T (p.Thr298Ile) rs1853549548
NM_020338.4(ZMIZ1):c.899C>T (p.Thr300Met) rs1589579500
NM_020719.3(PRR12):c.2045del (p.Gly682fs) rs2122294765
NM_020719.3(PRR12):c.2353_2360del (p.Ala785fs) rs2122296521
NM_020719.3(PRR12):c.5624-2A>G rs2122376761
NM_020719.3(PRR12):c.677dup (p.Tyr227fs) rs1329160503
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys) rs1558342399
NM_020779.4(WDR35):c.1546C>T (p.Gln516Ter) rs1050086118
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) rs1553316926
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.487_490del (p.Leu163fs) rs1553764834
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_021625.5(TRPV4):c.1853T>C (p.Leu618Pro) rs515726163
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser) rs1953368935
NM_022081.6(HPS4):c.276+5G>A rs1602079277
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg) rs552998089
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) rs1564805114
NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs) rs1558612412
NM_022893.4(BCL11A):c.295del (p.Val99fs) rs1558519119
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser) rs1563436265
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_024072.4(DDX54):c.647A>G (p.Asn216Ser) rs764707570
NM_024072.4(DDX54):c.892C>T (p.Leu298Phe) rs1593005589
NM_024298.5(MBOAT7):c.251del (p.Leu84fs) rs2076453977
NM_024592.5(SRD5A3):c.921G>C (p.Pro307=) rs763516132
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) rs759648976
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_024755.4(SLTM):c.2600C>A (p.Pro867His) rs1401798992
NM_024758.5(AGMAT):c.481G>A (p.Asp161Asn) rs1639091509
NM_024939.3(ESRP2):c.1558C>T (p.Arg520Ter) rs142168544
NM_024939.3(ESRP2):c.944G>A (p.Arg315His) rs751873605
NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe) rs1570626350
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys) rs1570621473
NM_025077.4(TOE1):c.693T>A (p.Tyr231Ter) rs1570621555
NM_025077.4(TOE1):c.937C>G (p.Pro313Ala) rs1557531984
NM_025077.4(TOE1):c.957C>T (p.His319=) rs758153898
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) rs745603321
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) rs1451698951
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser) rs1553905326
NM_025139.4(ARMC9):c.1211_1334del
NM_025185.3(TANC2):c.1589_1590delGA rs2046598826
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer) rs754472294
NM_031896.5(CACNG7):c.784A>G (p.Ile262Val) rs778171763
NM_032223.4(PCNX3):c.229_230del (p.Val77fs) rs1854764280
NM_032293.5(GARNL3):c.869A>G (p.Gln290Arg) rs764279982
NM_032415.7(CARD11):c.128C>T (p.Thr43Met) rs2115094112
NM_032415.7(CARD11):c.173A>G (p.Asp58Gly) rs1780506565
NM_032415.7(CARD11):c.179T>A (p.Val60Glu) rs1583410780
NM_032415.7(CARD11):c.191C>G (p.Pro64Arg) rs1583410771
NM_032415.7(CARD11):c.215G>T (p.Arg72Leu) rs2115093887
NM_032415.7(CARD11):c.220+1G>A rs1554276623
NM_032415.7(CARD11):c.358+1G>A rs2115090359
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
NM_052844.4(DYNC2I2):c.1060A>G (p.Thr354Ala) rs1554771066
NM_052844.4(DYNC2I2):c.1567_1582del (p.Glu523fs) rs1554770453
NM_052844.4(DYNC2I2):c.935T>C (p.Phe312Ser) rs1554771175
NM_052854.4(CREB3L1):c.928AAG[2] (p.Lys312del) rs1555222973
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584
NM_133460.3(ZNF418):c.1757C>T (p.Thr586Ile) rs2072226563
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter) rs773851192
NM_138691.3(TMC1):c.1224+2T>C rs1564555240
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.3(TMC1):c.1363T>C (p.Tyr455His) rs1828278868
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys) rs761261855
NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs) rs1828785763
NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg) rs1290684098
NM_138691.3(TMC1):c.2035G>A (p.Glu679Lys) rs1828965654
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter) rs1564554255
NM_138927.4(SON):c.1002_5016del (p.Glu335fs)
NM_138927.4(SON):c.1881_1882del (p.Val629fs) rs1569053308
NM_138927.4(SON):c.2365del (p.Ser789fs) rs1555898531
NM_138927.4(SON):c.268del (p.Ser90fs) rs1569050345
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.4(SON):c.3597_3598dup (p.Pro1200fs) rs1569055781
NM_138927.4(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138927.4(SON):c.4055del (p.Pro1352fs) rs1569056484
NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del) rs769691894
NM_138927.4(SON):c.4358_4359del (p.Thr1453fs) rs1601268952
NM_138927.4(SON):c.4549dup (p.Glu1517fs) rs1569057333
NM_138927.4(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.4(SON):c.4999_5013del (p.Asp1667_Asn1671del) rs1569058041
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) rs886039774
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775
NM_138927.4(SON):c.6087del (p.Ser2029fs) rs1569059792
NM_139285.4(GAS2L2):c.887_890del (p.Val296fs) rs587633197
NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter) rs1409944554
NM_144670.6(A2ML1):c.4061+1G>C rs202067416
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_152420.3(CARNMT1):c.230G>A (p.Gly77Asp) rs1822581744
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.2658_2659del (p.Phe886fs) rs2116486108
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu) rs771745123
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_173477.5(USH1G):c.314C>T (p.Ala105Val) rs1567940507
NM_173477.5(USH1G):c.812del (p.Pro271fs) rs1567939793
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) rs398122369
NM_178012.5(TUBB2B):c.298A>T (p.Asn100Tyr) rs1757279879
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys) rs1554126886
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu) rs1554202416
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) rs779841884
NM_182947.4(ARHGEF25):c.1327C>T (p.Arg443Cys) rs778066908
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro) rs1558490542
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) rs1558488902
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs) rs1558480402
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) rs1558464965
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter) rs767797828
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.