ClinVar Miner

List of variants reported as likely pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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ClinVar version:
Total variants: 1063
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_022829.6(SLC13A3):c.1016+3A>G rs199961976 0.00078
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000685.5(AGTR1):c.500G>A (p.Arg167Gln) rs200184769 0.00007
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NR_023343.3(RNU4ATAC):n.48G>A rs863225422 0.00005
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val) rs369973540 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter) rs371560438 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) rs777525949 0.00004
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met) rs199542988 0.00004
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile) rs755312623 0.00004
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter) rs748663904 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001080510.5(METTL23):c.470_471del (p.Leu157fs) rs760933323 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460 0.00003
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg) rs368222811 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_000400.4(ERCC2):c.1726G>A (p.Glu576Lys) rs201165309 0.00002
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu) rs121909543 0.00002
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_005247.4(FGF3):c.166C>T (p.Leu56Phe) rs782324453 0.00002
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123 0.00002
NM_015346.4(ZFYVE26):c.5791-6G>A rs771906344 0.00002
NM_021942.6(TRAPPC11):c.1719del (p.Ser574fs) rs763507812 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys) rs755492501 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) rs781570584 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.849+5G>A rs1060499716 0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) rs746006696 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290 0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=) rs115344041 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp) rs200849015 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000419.5(ITGA2B):c.1752+2T>C rs769156315 0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) rs778608263 0.00001
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) rs144484128 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000529.2(MC2R):c.145G>A (p.Val49Met) rs752791815 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654 0.00001
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter) rs1294683568 0.00001
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys) rs2024064953 0.00001
NM_001242896.3(DEPDC5):c.1958dup (p.His653fs) rs1475605360 0.00001
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys) rs672601365 0.00001
NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln) rs922548333 0.00001
NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu) rs587777599 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001320.7(CSNK2B):c.101T>G (p.Phe34Cys) rs1374628000 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser) rs761661253 0.00001
NM_001330691.3(CEP78):c.966G>A (p.Trp322Ter) rs1322721879 0.00001
NM_001349253.2(SCN11A):c.1142T>C (p.Ile381Thr) rs606231280 0.00001
NM_001352754.2(ARMC9):c.879G>A (p.Thr293=) rs766572502 0.00001
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228 0.00001
NM_001372.4(DNAH9):c.3354-1del rs768238895 0.00001
NM_001375405.1(CEP120):c.1646C>T (p.Ala549Val) rs775080726 0.00001
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) rs780600124 0.00001
NM_001379500.1(COL18A1):c.1897-2A>G rs778612831 0.00001
NM_001384125.1(BLTP1):c.5184+4A>G rs758472351 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) rs368682034 0.00001
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_001797.4(CDH11):c.1639C>T (p.Arg547Ter) rs1177793851 0.00001
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys) rs376152274 0.00001
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg) rs1466750124 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr) rs769000561 0.00001
NM_003680.4(YARS1):c.176T>C (p.Ile59Thr) rs774466323 0.00001
NM_005149.3(TBX19):c.206G>A (p.Arg69Gln) rs1310982370 0.00001
NM_005188.4(CBL):c.1228-1G>A rs587777540 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu) rs772475828 0.00001
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007289.4(MME):c.440-2A>C rs200435950 0.00001
NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala) rs558397748 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_019842.4(KCNQ5):c.2725C>T (p.Arg909Ter) rs776643693 0.00001
NM_020549.5(CHAT):c.357G>A (p.Met119Ile) rs759310217 0.00001
NM_020919.4(ALS2):c.4626+1G>A rs1234882220 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_024063.3(AFG2B):c.1313T>C (p.Leu438Pro) rs1480279583 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.2559C>T (p.Gly853=) rs180177115 0.00001
NM_025243.4(SLC19A3):c.1172+1G>A rs1219632810 0.00001
NM_030954.4(RNF170):c.396+3A>G rs1159600703 0.00001
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser) rs1303930496 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_145207.3(AFG2A):c.2321G>A (p.Arg774His) rs539850739 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu) rs1378799607 0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220 0.00001
NM_206933.4(USH2A):c.5573-834A>G rs1558244152 0.00001
NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg) rs912174567 0.00001
GRCh38/hg38 17p13.1(chr17:8171228-8185326)x1
GRCh38/hg38 7q31.1(chr7:107951205-107952243)x0
NC_000017.11:g.76732979_76732983del rs756957958
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000033.4(ABCD1):c.1667A>T (p.Gln556Leu) rs2091764439
NM_000033.4(ABCD1):c.1670T>G (p.Val557Gly) rs2091764492
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro) rs2091708025
NM_000037.4(ANK1):c.2544_2548dup (p.Leu850fs) rs1822063314
NM_000037.4(ANK1):c.5344C>T (p.Gln1782Ter) rs2150556374
NM_000037.4(ANK1):c.612+2_612+6del rs1830526581
NM_000038.6(APC):c.834G>A (p.Gln278=) rs1060503261
NM_000044.6(AR):c.1737C>A (p.Ser579Arg)
NM_000044.6(AR):c.2042T>A (p.Ile681Asn) rs2076093998
NM_000044.6(AR):c.2072A>G (p.Asp691Gly)
NM_000044.6(AR):c.2159C>T (p.Ala720Val) rs2076094679
NM_000049.4(ASPA):c.884T>C (p.Phe295Ser)
NM_000051.4(ATM):c.147_148insG (p.Lys50fs)
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.496+334A>G
NM_000051.4(ATM):c.497-2_499del rs2079694684
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.8265del (p.Thr2754_Tyr2755insTer)
NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe)
NM_000054.7(AVPR2):c.964C>A (p.Pro322Thr) rs2148515160
NM_000059.4(BRCA2):c.2167dup (p.Ser723fs) rs2072451752
NM_000059.4(BRCA2):c.2T>A (p.Met1Lys) rs80358547
NM_000059.4(BRCA2):c.425+1G>A rs587782590
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.67G>T (p.Asp23Tyr) rs397507881
NM_000059.4(BRCA2):c.7976+1G>T rs81002873
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.1925C>T (p.Pro642Leu)
NM_000061.3(BTK):c.894+1G>A rs1064793859
NM_000071.3(CBS):c.869C>A (p.Pro290Gln) rs760912339
NM_000071.3(CBS):c.903C>A (p.Tyr301Ter) rs746575551
NM_000083.3(CLCN1):c.2508+2T>A rs992259659
NM_000083.3(CLCN1):c.[1444G>A];[1448G>A]
NM_000088.4(COL1A1):c.299-1G>T
NM_000088.4(COL1A1):c.680G>A (p.Gly227Glu) rs2144585835
NM_000089.4(COL1A2):c.1863+2T>G rs1418151948
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
NM_000090.4(COL3A1):c.1457G>A (p.Gly486Asp) rs1688274077
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys) rs1319735007
NM_000093.5(COL5A1):c.5038T>C (p.Cys1680Arg)
NM_000104.4(CYP1B1):c.1426T>C (p.Ser476Pro) rs1682416281
NM_000127.3(EXT1):c.608A>G (p.Tyr203Cys)
NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr) rs1555399381
NM_000143.4(FH):c.934T>G (p.Phe312Val) rs863224000
NM_000147.5(FUCA1):c.524+1G>A rs1639603168
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro) rs864622215
NM_000168.6(GLI3):c.3624dup (p.Pro1209fs) rs1787139771
NM_000168.6(GLI3):c.4332T>A (p.Tyr1444Ter)
NM_000179.3(MSH6):c.3776_3777insAACA (p.Asn1259fs)
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000238.4(KCNH2):c.2398+1G>T rs794728391
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000250.2(MPO):c.1711C>T (p.Arg571Ter)
NM_000250.2(MPO):c.[1281del];[518A>G]
NM_000250.2(MPO):c.[2031-2A>C];[752T>C]
NM_000256.3(MYBPC3):c.506-2A>G rs397516057
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1859T>C (p.Leu620Pro) rs199862338
NM_000257.4(MYH7):c.2480G>C (p.Trp827Ser) rs542565151
NM_000257.4(MYH7):c.4475T>C (p.Leu1492Pro) rs1892252730
NM_000257.4(MYH7):c.4943del (p.Ser1648fs)
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.202_285+34del
NM_000260.4(MYO7A):c.3109-2A>G
NM_000260.4(MYO7A):c.471-2A>C
NM_000263.4(NAGLU):c.[2020C>T];[680A>C]
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000268.4(NF2):c.185T>C (p.Phe62Ser) rs121434261
NM_000276.4(OCRL):c.1568A>C (p.Asp523Ala) rs1936266464
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)
NM_000283.4(PDE6B):c.2503+2T>C
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000287.4(PEX6):c.2702del (p.Val901fs) rs1769688206
NM_000304.4(PMP22):c.76_77del (p.Ser26fs) rs1909238801
NM_000304.4(PMP22):c.78+2_78+3del rs1909238157
NM_000314.8(PTEN):c.152ATG[1] (p.Asp52del) rs1589617371
NM_000314.8(PTEN):c.49C>G (p.Gln17Glu) rs786204910
NM_000314.8(PTEN):c.765_766insTTC (p.Val255_Glu256insPhe) rs2132277565
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.515G>C (p.Arg172Pro) rs61755793
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) rs61755796
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) rs61755817
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val) rs62637002
NM_000329.3(RPE65):c.209T>C (p.Phe70Ser) rs1645945363
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln) rs61752874
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000330.4(RS1):c.419G>A (p.Gly140Glu) rs61752157
NM_000335.5(SCN5A):c.4540-1G>T rs2061100863
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000346.4(SOX9):c.358C>G (p.Arg120Gly) rs2143240377
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala) rs866706988
NM_000350.3(ABCA4):c.1555-2A>C rs2101079462
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.3051-1G>C rs2101051637
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu) rs763267492
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His) rs1287053724
NM_000350.3(ABCA4):c.4254-1G>C rs886044740
NM_000350.3(ABCA4):c.4849-2A>G rs1659893796
NM_000350.3(ABCA4):c.5113C>G (p.Arg1705Gly)
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000368.5(TSC1):c.737G>T (p.Arg246Met)
NM_000369.5(TSHR):c.1966G>A (p.Val656Ile)
NM_000372.5(TYR):c.816G>C (p.Trp272Cys) rs62645902
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.1350-1G>A rs2148153587
NM_000390.4(CHM):c.941-1G>T rs1930009592
NM_000431.4(MVK):c.850del (p.Glu284fs) rs1885671620
NM_000434.4(NEU1):c.[353-11A>G];[541T>C]
NM_000435.3(NOTCH3):c.2929T>C (p.Cys977Arg) rs2046836342
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe) rs2046807248
NM_000440.3(PDE6A):c.1927-1G>C
NM_000440.3(PDE6A):c.1927-1G>T rs1761074706
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.998+2T>G rs1753505068
NM_000440.3(PDE6A):c.999-2A>G rs1753232409
NM_000441.2(SLC26A4):c.584T>C (p.Leu195Pro)
NM_000458.4(HNF1B):c.345-2A>G
NM_000465.4(BARD1):c.1569-1G>C rs1574756672
NM_000487.6(ARSA):c.413C>G (p.Pro138Arg) rs74315462
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000521.4(HEXB):c.771+985G>A
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.646-2A>G rs1670228122
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000539.3(RHO):c.512C>G (p.Pro171Arg) rs2084776162
NM_000539.3(RHO):c.67C>A (p.Pro23Thr)
NM_000539.3(RHO):c.888G>T (p.Lys296Asn)
NM_000539.3(RHO):c.937-1G>C rs2084800561
NM_000540.3(RYR1):c.[1834G>C];[2045G>A]
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) rs1597349147
NM_000546.6(TP53):c.485T>G (p.Ile162Ser) rs587780069
NM_000546.6(TP53):c.560-15_560-5del
NM_000612.6(IGF2):c.227del (p.Asp76fs) rs2133585000
NM_000685.5(AGTR1):c.696_700del (p.Pro233fs) rs2107975487
NM_000702.4(ATP1A2):c.2776G>T (p.Val926Leu) rs1651973884
NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg)
NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter)
NM_000751.3(CHRND):c.868_871del (p.Val290fs) rs1691690923
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.2458G>A (p.Gly820Arg) rs1555103150
NM_000885.6(ITGA4):c.*2719T>C rs1687295837
NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro)
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001004334.4(GPR179):c.1818G>A (p.Trp606Ter) rs1268507778
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_001005273.3(CHD3):c.3603G>T (p.Lys1201Asn) rs2151604078
NM_001005273.3(CHD3):c.4243C>T (p.Arg1415Cys)
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys) rs2072577342
NM_001005373.4(LRSAM1):c.529-2A>G rs1835011473
NM_001009944.3(PKD1):c.11412-2A>G
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001018005.2(TPM1):c.251A>C (p.Asp84Ala) rs2034909771
NM_001022.4(RPS19):c.353A>G (p.Asp118Gly)
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001031710.3(KLHL7):c.598_601del (p.Leu199_Thr200insTer) rs1784160131
NM_001032221.6(STXBP1):c.721T>A (p.Ser241Thr) rs2131472700
NM_001032221.6(STXBP1):c.722C>A (p.Ser241Tyr) rs2131472708
NM_001032221.6(STXBP1):c.915del (p.Ser306fs) rs2131488897
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.1573-12A>G rs2067221066
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.644G>T (p.Gly215Val) rs62650218
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly) rs1761011834
NM_001039591.3(USP9X):c.6194del (p.Gly2065fs) rs2063221553
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.638T>A (p.Val213Asp) rs1574556643
NM_001040142.2(SCN2A):c.638T>G (p.Val213Gly) rs1574556643
NM_001040142.2(SCN2A):c.730T>C (p.Ser244Pro) rs1697361835
NM_001040424.3(PRDM15):c.2420G>A (p.Cys807Tyr) rs2061840290
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1185+5G>C rs1597682182
NM_001042492.3(NF1):c.1392+2_1392+8del
NM_001042492.3(NF1):c.1641+2_1641+3del
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser) rs2151429494
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5268+5G>T
NM_001042492.3(NF1):c.5813-177A>C
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001069.3(TUBB2A):c.1228G>A (p.Glu410Lys) rs1762591034
NM_001069.3(TUBB2A):c.533C>T (p.Thr178Met) rs886039447
NM_001069.3(TUBB2A):c.689C>T (p.Ser230Leu)
NM_001070.5(TUBG1):c.664A>C (p.Asn222His)
NM_001077365.2(POMT1):c.[2101dup];[512T>G]
NM_001079520.2(DACT1):c.1362_1363del (p.Ser454fs) rs2140219280
NM_001079668.3(NKX2-1):c.617T>C (p.Leu206Pro) rs1555349221
NM_001080472.4(FITM2):c.1A>G (p.Met1Val) rs891516151
NM_001080517.3(SETD5):c.4107_4110dup (p.Ser1371fs) rs1553641753
NM_001083962.2(TCF4):c.656-1G>A rs587784466
NM_001083962.2(TCF4):c.990+2T>C rs2145729186
NM_001098.3(ACO2):c.844_862del (p.Thr282fs) rs2066485367
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) rs587779769
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.930_*52del (p.Asp311fs)
NM_001104631.2(PDE4D):c.575T>C (p.Leu192Pro) rs1751141961
NM_001109878.2(TBX22):c.458+1G>A rs1923859591
NM_001110792.2(MECP2):c.1176dup (p.Pro393fs) rs2065924675
NM_001110792.2(MECP2):c.62+1G>C rs786205048
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001112741.2(KCNC1):c.623G>A (p.Cys208Tyr) rs1849231544
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser) rs1848883206
NM_001123385.2(BCOR):c.4596-1G>A rs1934549221
NM_001127178.3(PIGG):c.1996_2005del (p.Arg666fs) rs1726787605
NM_001127178.3(PIGG):c.2736-1G>T rs1731469688
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3882+2T>C rs2057168559
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127644.2(GABRA1):c.1313A>G (p.Tyr438Cys) rs1312078830
NM_001127898.4(CLCN5):c.416-1G>C rs1933378481
NM_001130438.3(SPTAN1):c.6043del (p.Ser2015fs)
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001134407.3(GRIN2A):c.1498-2A>G rs1327643521
NM_001134407.3(GRIN2A):c.728C>T (p.Ala243Val) rs2141631138
NM_001134673.4(NFIA):c.1051C>T (p.Arg351Ter) rs1422656895
NM_001135649.3(FOXI3):c.596T>G (p.Leu199Arg)
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001142800.2(EYS):c.7723+1G>A rs1770412895
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs) rs2141368718
NM_001159699.2(FHL1):c.496T>G (p.Cys166Gly) rs1603271659
NM_001160372.4(TRAPPC9):c.2432-1G>A rs2131321747
NM_001161.5(NUDT2):c.174G>T (p.Glu58Asp)
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu) rs150678882
NM_001162501.2(TNRC6B):c.3840+1G>T
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs) rs746860249
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter) rs1740799305
NM_001163435.3(TBCK):c.304C>T (p.Gln102Ter) rs1330115613
NM_001163692.2(UBAP1L):c.120+1G>T
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His) rs796052988
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn) rs1698961617
NM_001166114.2(PNPLA6):c.2684_2688del (p.Val895fs)
NM_001170535.3(ATAD3A):c.384+1G>A rs1394640737
NM_001170629.2(CHD8):c.2486+1G>A rs1888355872
NM_001171613.2(PREPL):c.1630-1G>A rs1673116593
NM_001172509.2(SATB2):c.473+1G>A
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro) rs1928375454
NM_001184880.2(PCDH19):c.1693G>C (p.Ala565Pro) rs1316928806
NM_001190274.2(FBXO11):c.1260+1G>C rs1672276134
NM_001190274.2(FBXO11):c.1648G>C (p.Gly550Arg) rs1671446124
NM_001190274.2(FBXO11):c.1706A>G (p.Asn569Ser) rs1671299484
NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) rs1553334863
NM_001190274.2(FBXO11):c.904_905dup (p.Glu303fs) rs1672420542
NM_001190737.2(NFIB):c.367C>T (p.Gln123Ter) rs2132702648
NM_001199198.3(TBC1D23):c.951_954del (p.Cys317fs) rs773150360
NM_001201543.2(FAM161A):c.1830del (p.Leu611fs) rs1292802544
NM_001205254.2(OCLN):c.1054C>T (p.Gln352Ter) rs1769684609
NM_001211.6(BUB1B):c.2363_2364del (p.Ser788fs) rs756459860
NM_001220.5(CAMK2B):c.903+2T>C rs2128963917
NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr) rs180177435
NM_001244008.2(KIF1A):c.1021A>G (p.Thr341Ala) rs2052419658
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001244710.2(GFPT1):c.1265_1268del (p.Phe422fs) rs2104617170
NM_001256627.2(BRSK2):c.733_734del (p.Leu246fs) rs2133098428
NM_001256789.3(CACNA1F):c.1877+2T>G rs2147916471
NM_001256789.3(CACNA1F):c.4462T>C (p.Cys1488Arg) rs2147896131
NM_001257180.2(SLC20A2):c.344C>A (p.Thr115Lys)
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001260.3(CDK8):c.89G>T (p.Gly30Val)
NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter) rs1250796004
NM_001267550.2(TTN):c.49210_49211dup (p.Val16405fs) rs2056867686
NM_001267550.2(TTN):c.57165_57180del (p.Glu19055fs) rs2052201364
NM_001267550.2(TTN):c.64205dup (p.Thr21403fs) rs2154181563
NM_001267550.2(TTN):c.72963_72964del (p.Val24321_Phe24322insTer) rs1708864326
NM_001267727.2(ARSG):c.1512_1531del (p.Gln505fs) rs2147613503
NM_001271.4(CHD2):c.231_234dup (p.Leu79fs) rs2053019508
NM_001271.4(CHD2):c.4985_4986dup (p.His1663fs) rs2054514812
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2946dup (p.Asp983fs) rs1980761409
NM_001282874.2(SMARCA1):c.193C>T (p.Gln65Ter)
NM_001282874.2(SMARCA1):c.413T>G (p.Leu138Ter)
NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) rs1757528753
NM_001292034.3(TAB2):c.1764+1G>A rs1782223593
NM_001292063.2(OTOG):c.7480+1G>A rs1374254106
NM_001298.3(CNGA3):c.1100G>T (p.Gly367Val)
NM_001298.3(CNGA3):c.1719C>G (p.Tyr573Ter)
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser) rs199474697
NM_001303256.3(MORC2):c.317C>T (p.Ser106Leu)
NM_001318852.2(MAPK8IP3):c.2121+1dup rs2141939548
NM_001320.7(CSNK2B):c.410G>A (p.Cys137Tyr) rs2151188789
NM_001320.7(CSNK2B):c.72+2T>G rs2151182244
NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter) rs2069660959
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330288.2(SMARCC2):c.1972G>T (p.Val658Leu) rs1874016146
NM_001330691.3(CEP78):c.827del (p.Leu276fs) rs2118219355
NM_001347721.2(DYRK1A):c.489+2T>A rs2052613493
NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val) rs1555984343
NM_001347721.2(DYRK1A):c.924+2T>A rs2053048647
NM_001348323.3(TRIP12):c.1373dup (p.Leu459fs) rs2052640598
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter) rs1574994308
NM_001348323.3(TRIP12):c.6181C>T (p.Gln2061Ter) rs2032190831
NM_001348800.3(ZBTB20):c.1794C>G (p.Phe598Leu) rs777874668
NM_001348800.3(ZBTB20):c.1949A>T (p.Asn650Ile) rs2079586826
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly) rs2126497313
NM_001353345.2(SETD1B):c.5842G>A (p.Glu1948Lys) rs2137594297
NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)
NM_001356.5(DDX3X):c.1315+1G>C rs2063911832
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001357.5(DHX9):c.710dup (p.Leu237fs)
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr) rs767031102
NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg) rs1557229683
NM_001363711.2(DUOX2):c.4521del (p.Gln1508fs) rs1893849623
NM_001365.5(DLG4):c.38G>A (p.Trp13Ter) rs2071044098
NM_001365536.1(SCN9A):c.4916T>A (p.Met1639Lys) rs2106338008
NM_001365902.3(NFIX):c.623-2A>T rs2016886160
NM_001366521.1(ATP2B1):c.2509_2512del (p.Ser837fs)
NM_001367721.1(CASK):c.1898G>A (p.Cys633Tyr) rs2065129571
NM_001367721.1(CASK):c.2155G>A (p.Val719Met) rs12842195
NM_001370100.5(ZMYND11):c.950+2T>G rs1951082266
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr) rs1681107508
NM_001371279.1(REEP1):c.32+1G>T rs1681105619
NM_001371727.1(GABRB2):c.754C>T (p.Pro252Ser) rs869312861
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001371904.1(APOA5):c.681C>A (p.Cys227Ter)
NM_001371928.1(AHDC1):c.2168del (p.Pro723fs) rs2019436671
NM_001371928.1(AHDC1):c.4388del (p.Gly1463fs) rs2019250682
NM_001372.4(DNAH9):c.11195_11198del (p.Asp3732fs) rs1567880135
NM_001374828.1(ARID1B):c.1719G>A (p.Trp573Ter) rs1779020146
NM_001374828.1(ARID1B):c.2762-2A>C rs770350755
NM_001374828.1(ARID1B):c.4712del (p.Met1571fs) rs1794059063
NM_001374828.1(ARID1B):c.5264-2A>C rs1794274425
NM_001374828.1(ARID1B):c.6946_6947del (p.Asp2316fs)
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter) rs1564816319
NM_001375405.1(CEP120):c.2530_2548del (p.Tyr844fs) rs1770319706
NM_001377265.1(MAPT):c.2242T>A (p.Ser748Thr) rs2076339915
NM_001377295.2(GNAT2):c.874+1G>T
NM_001378120.1(MBD5):c.254_255del (p.Arg85fs) rs1707172225
NM_001378183.1(PIEZO2):c.3756_3757+2del rs2143842283
NM_001378183.1(PIEZO2):c.4515-28_4515del rs2037268635
NM_001378418.1(TCF20):c.1171C>T (p.Gln391Ter)
NM_001378778.1(MPDZ):c.394-1G>C rs1959559533
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) rs867628133
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
NM_001378969.1(KCND3):c.910T>C (p.Ser304Pro) rs1674962966
NM_001379029.1(CERT1):c.413C>T (p.Ser138Phe) rs1763618466
NM_001379110.1(SLC9A6):c.448-9_459del
NM_001379403.1(WDR26):c.2204A>G (p.Asp735Gly) rs1673189476
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer) rs2033274775
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe) rs869320709
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) rs1582323732
NM_001385012.1(NBEA):c.3337_3338del (p.Gly1113fs) rs2069405903
NM_001385012.1(NBEA):c.5367-2A>T rs2073566187
NM_001385012.1(NBEA):c.7771del (p.Cys2591fs) rs2084421079
NM_001385012.1(NBEA):c.8156G>A (p.Trp2719Ter) rs2084744538
NM_001386298.1(CIC):c.3328del (p.Arg1110fs) rs2037750426
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser) rs2037753806
NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)
NM_001386393.1(PANK2):c.1245_1246insTA (p.Ile416Ter) rs2090601115
NM_001386393.1(PANK2):c.906-1G>A rs2090482332
NM_001394372.1(BICRA):c.868C>T (p.Gln290Ter) rs1210103414
NM_001395891.1(CLASP1):c.[196-571C>T];[196-670T>G]
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
NM_001492.6(GDF1):c.[1008C>G];[681C>A]
NM_001493.3(GDI1):c.671A>G (p.Tyr224Cys)
NM_001605.3(AARS1):c.1815C>G (p.His605Gln)
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter) rs868097991
NM_001615.4(ACTG2):c.116C>G (p.Pro39Arg)
NM_001694.4(ATP6V0C):c.283G>A (p.Ala95Thr)
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001759.4(CCND2):c.829C>T (p.Gln277Ter) rs1864225645
NM_001791.4(CDC42):c.67T>A (p.Tyr23Asn) rs1645575312
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.1682G>T (p.Gly561Val) rs1939349946
NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)
NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu) rs1877963897
NM_001854.4(COL11A1):c.4565G>T (p.Gly1522Val) rs1651323625
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_001904.4(CTNNB1):c.2125dup (p.Tyr709fs)
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met) rs2082362479
NM_001958.5(EEF1A2):c.888C>A (p.His296Gln) rs762804574
NM_001970.5(EIF5A):c.191_192del (p.Phe64fs)
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) rs1057520110
NM_001972.4(ELANE):c.674C>G (p.Ser225Ter)
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter) rs2035677025
NM_002024.6(FMR1):c.104+3_104+6del rs2043190584
NM_002047.4(GARS1):c.1415dup (p.His472fs) rs2128135098
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro) rs267607515
NM_002055.5(GFAP):c.1240del (p.Glu414fs) rs2051680751
NM_002055.5(GFAP):c.368T>C (p.Leu123Pro)
NM_002069.6(GNAI1):c.134G>A (p.Gly45Asp)
NM_002069.6(GNAI1):c.155A>C (p.Gln52Pro) rs1788434582
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp) rs1646670079
NM_002074.5(GNB1):c.498-2A>G
NM_002128.7(HMGB1):c.406_407del (p.Thr136fs) rs2137396956
NM_002156.5(HSPD1):c.329G>T (p.Gly110Val) rs2086169784
NM_002204.4(ITGA3):c.1912A>T (p.Lys638Ter) rs1908920447
NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs) rs2150428777
NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs) rs2116327253
NM_002437.5(MPV17):c.[122G>A];[71-2A>G]
NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter) rs1849911056
NM_002524.5(NRAS):c.108A>G (p.Ile36Met) rs2101743991
NM_002547.3(OPHN1):c.1410_1419del (p.Ala472fs) rs2077112267
NM_002576.5(PAK1):c.428T>C (p.Met143Thr) rs1949512290
NM_002641.4(PIGA):c.242G>A (p.Arg81His) rs1922162801
NM_002655.3(PLAG1):c.478del (p.Glu160fs)
NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)
NM_002739.5(PRKCG):c.1082G>A (p.Ser361Asn) rs2068730966
NM_002739.5(PRKCG):c.1926C>G (p.Asn642Lys) rs1486368788
NM_002764.4(PRPS1):c.383A>T (p.Asp128Val) rs2147682409
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg) rs766433250
NM_002816.5(PSMD12):c.430C>T (p.Arg144Ter) rs2041990527
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002890.3(RASA1):c.900-3_900-2del rs1758095789
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs) rs1865654197
NM_003002.4(SDHD):c.169+5G>A rs1865657237
NM_003011.4(SET):c.236del (p.Pro79fs) rs1861551472
NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg)
NM_003042.4(SLC6A1):c.1078+1G>C
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003107.3(SOX4):c.182G>A (p.Arg61Gln) rs1763098947
NM_003108.4(SOX11):c.1009C>G (p.Arg337Gly) rs1665680497
NM_003108.4(SOX11):c.323A>C (p.Lys108Thr) rs1665661722
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp) rs2152412388
NM_003179.3(SYP):c.829_832del (p.Asp277fs) rs2065508863
NM_003242.6(TGFBR2):c.1241_1254+1del
NM_003274.5(TRAPPC10):c.1512_1513insAA (p.Ala505fs)
NM_003274.5(TRAPPC10):c.940C>T (p.Gln314Ter)
NM_003361.4(UMOD):c.688T>A (p.Trp230Arg)
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003403.5(YY1):c.1220A>G (p.His407Arg) rs2139605856
NM_003466.4(PAX8):c.203C>T (p.Thr68Ile) rs1691155605
NM_003482.4(KMT2D):c.13670A>C (p.Gln4557Pro)
NM_003482.4(KMT2D):c.16442G>A (p.Cys5481Tyr) rs1388523736
NM_003590.5(CUL3):c.1386del (p.Cys462fs) rs1692452265
NM_003590.5(CUL3):c.2175+1G>C rs1691394055
NM_003590.5(CUL3):c.805_850dup (p.Leu284fs) rs1692821181
NM_003590.5(CUL3):c.883+1G>A rs1692819940
NM_003632.3(CNTNAP1):c.1044+1G>A rs2053027040
NM_003640.5(ELP1):c.1269dup (p.Val424fs) rs2132013817
NM_003718.5(CDK13):c.2440del (p.His813_Ile814insTer) rs1785728001
NM_003849.4(SUCLG1):c.719T>G (p.Leu240Arg)
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) rs200143780
NM_003919.3(SGCE):c.391-1G>C rs1803142505
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup) rs771383153
NM_004181.5(UCHL1):c.349_364del (p.Phe117fs) rs1781070341
NM_004181.5(UCHL1):c.64dup (p.Val22fs) rs1781001592
NM_004183.4(BEST1):c.1101-491A>G
NM_004183.4(BEST1):c.277T>C (p.Trp93Arg) rs1941252350
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004183.4(BEST1):c.652C>A (p.Arg218Ser) rs281865238
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.693T>A (p.Ser231Arg) rs281865244
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg) rs1941503926
NM_004187.5(KDM5C):c.1122+1G>A rs2146933945
NM_004187.5(KDM5C):c.150+1G>T rs2073994731
NM_004187.5(KDM5C):c.782-1G>T rs2146940260
NM_004370.6(COL12A1):c.5524+1G>A rs1766495554
NM_004370.6(COL12A1):c.7992del (p.Ile2664fs) rs1768708203
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val) rs2051858361
NM_004408.4(DNM1):c.1067T>G (p.Leu356Arg) rs1835085404
NM_004408.4(DNM1):c.1180A>G (p.Asn394Asp) rs1835103161
NM_004415.4(DSP):c.1325C>T (p.Ser442Phe) rs1321159751
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter) rs1758962311
NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys) rs1808822115
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004589.4(SCO1):c.68dup (p.Leu23fs) rs2074738818
NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)
NM_004612.4(TGFBR1):c.671G>T (p.Trp224Leu) rs1827486281
NM_004643.4(PABPN1):c.18_26dup (p.Ala11_Gly12insAlaAlaAla) rs1888252890
NM_004744.5(LRAT):c.487C>G (p.His163Asp) rs1010347467
NM_004782.4(SNAP29):c.238-2A>G rs1928558096
NM_004817.4(TJP2):c.2355+1G>T rs1830381101
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val) rs891749853
NM_004859.4(CLTC):c.4602_4603dup (p.Lys1535fs)
NM_004859.4(CLTC):c.4955del (p.Gln1652fs) rs2033363279
NM_004928.3(CFAP410):c.443_444del (p.Glu148fs) rs756970705
NM_004928.3(CFAP410):c.78-1G>T
NM_004973.4(JARID2):c.12_13del (p.Arg5fs) rs2127277880
NM_004984.4(KIF5A):c.2613_2614del (p.Arg871fs) rs1882579168
NM_004984.4(KIF5A):c.2755+1G>T rs1882585452
NM_004984.4(KIF5A):c.397-2A>G rs2140159358
NM_004984.4(KIF5A):c.806T>C (p.Leu269Pro)
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter) rs886041906
NM_005269.3(GLI1):c.816G>T (p.Trp272Cys)
NM_005413.4(SIX3):c.419T>C (p.Phe140Ser) rs1666602075
NM_005422.4(TECTA):c.6016G>A (p.Asp2006Asn) rs2134215546
NM_005476.7(GNE):c.5A>G (p.Glu2Gly) rs1830025657
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn) rs57629991
NM_005618.4(DLL1):c.625dup (p.Glu209fs) rs1783751658
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005654.6(NR2F1):c.667_668insTCGCGCGCTGG (p.Ala223fs) rs1753263819
NM_005787.6(ALG3):c.487C>T (p.Arg163Cys)
NM_005802.5(TOPORS):c.2558_2559insT (p.His855fs) rs1821069769
NM_005859.5(PURA):c.509T>G (p.Ile170Ser) rs1763049212
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.843del (p.Gln282fs) rs2126749456
NM_005859.5(PURA):c.898del (p.Gln300fs) rs1763056835
NM_005862.3(STAG1):c.3559C>T (p.Arg1187Trp) rs1935927985
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg)
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005909.5(MAP1B):c.1002del (p.Glu334fs) rs2112231793
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005982.4(SIX1):c.316G>T (p.Val106Leu) rs2140241235
NM_005996.4(TBX3):c.1190del (p.Phe397fs) rs1868624031
NM_006000.3(TUBA4A):c.1051_1055dup (p.Lys352fs) rs1951631864
NM_006000.3(TUBA4A):c.225del (p.Ile75fs) rs1951656756
NM_006009.4(TUBA1A):c.137A>T (p.Asp46Val) rs2121248103
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.609G>A (p.Met203Ile) rs2121244334
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006060.6(IKZF1):c.448T>C (p.Cys150Arg) rs1812147849
NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg) rs1131691696
NM_006118.4(HAX1):c.53+1G>A
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)
NM_006158.5(NEFL):c.65C>T (p.Pro22Leu) rs267607538
NM_006214.4(PHYH):c.529G>A (p.Asp177Asn) rs2131640861
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006269.2(RP1):c.607G>A (p.Gly203Arg) rs786205589
NM_006294.5(UQCRB):c.310G>T (p.Glu104Ter) rs1554577679
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006343.3(MERTK):c.1689C>A (p.Thr563=) rs1676864249
NM_006343.3(MERTK):c.1690+1G>A rs761251269
NM_006343.3(MERTK):c.1690+3A>T rs1676864420
NM_006343.3(MERTK):c.1690+5del rs1676864515
NM_006343.3(MERTK):c.1744_1745del (p.Val581_Ile582insTer) rs2104406867
NM_006343.3(MERTK):c.1749_1753del (p.Asp583fs) rs2104406873
NM_006343.3(MERTK):c.2163T>A (p.His721Gln) rs749472520
NM_006372.5(SYNCRIP):c.858_859del (p.Gly287fs) rs1806539260
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6910T>C (p.Phe2304Leu) rs1911004419
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu) rs121434240
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006593.4(TBR1):c.1190+1G>A rs1684207130
NM_006612.6(KIF1C):c.1049_1052del (p.Cys350fs) rs1974690692
NM_006612.6(KIF1C):c.1335+2_1335+5del rs1974751835
NM_006612.6(KIF1C):c.2223G>A (p.Trp741Ter) rs1975108349
NM_006612.6(KIF1C):c.2774_2777dup (p.Leu927fs) rs1975138917
NM_006612.6(KIF1C):c.2885_2895del (p.Leu962fs)
NM_006612.6(KIF1C):c.305G>C (p.Gly102Ala) rs1974586605
NM_006612.6(KIF1C):c.3G>T (p.Met1Ile) rs1468786988
NM_006612.6(KIF1C):c.940+2T>G rs1974668891
NM_006662.3(SRCAP):c.9229C>T (p.Arg3077Ter) rs143133981
NM_006744.4(RBP4):c.176T>A (p.Ile59Asn) rs121918584
NM_006744.4(RBP4):c.278G>A (p.Gly93Asp) rs121918585
NM_006766.5(KAT6A):c.2437-1G>A rs1822131416
NM_006767.4(LZTR1):c.102C>A (p.Cys34Ter)
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1687G>C (p.Glu563Gln) rs1374240053
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006772.3(SYNGAP1):c.1387-2del rs1760914246
NM_006772.3(SYNGAP1):c.1531+1del rs2151171434
NM_006796.3(AFG3L2):c.2011G>T (p.Gly671Trp) rs151344517
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser) rs797045221
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.600_601del (p.Gln200fs) rs2078533830
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_006908.5(RAC1):c.151G>C (p.Val51Leu) rs1554263625
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006915.3(RP2):c.769-3C>A rs1925035156
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys) rs1591908680
NM_006941.4(SOX10):c.1A>G (p.Met1Val) rs1932482770
NM_006950.3(SYN1):c.2del (p.Met1fs) rs2057942403
NM_007055.4(POLR3A):c.1572+1G>T rs141484643
NM_007118.4(TRIO):c.1857_1860dup (p.Tyr621fs) rs1741436306
NM_007118.4(TRIO):c.1996C>T (p.Arg666Ter) rs1741445944
NM_007118.4(TRIO):c.5763+1G>T
NM_007118.4(TRIO):c.6466-1G>A rs1755607724
NM_007118.4(TRIO):c.7027del (p.Gln2343fs) rs1261331062
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007198.4(PLPBP):c.389G>A (p.Trp130Ter)
NM_007198.4(PLPBP):c.695C>T (p.Ala232Val)
NM_007254.4(PNKP):c.63dup (p.Ile22fs) rs1568663209
NM_007289.4(MME):c.2178del (p.Ala727fs) rs1712967888
NM_007294.4(BRCA1):c.4185+2del rs2053429850
NM_007294.4(BRCA1):c.4185+4_4185+22del rs2053427306
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.671-26_1018del
NM_007325.5(GRIA3):c.1672del (p.Cys558fs) rs2147393485
NM_007327.4(GRIN1):c.1904T>C (p.Val635Ala)
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_012193.4(FZD4):c.1474G>C (p.Gly492Arg) rs80358299
NM_012309.5(SHANK2):c.2802dup (p.Ala935fs) rs2058827886
NM_012330.4(KAT6B):c.2629+2T>C rs1842977002
NM_012330.4(KAT6B):c.3373-1G>A
NM_012338.4(TSPAN12):c.66+1del
NM_012470.4(TNPO3):c.1920+1G>A rs1799463371
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del) rs748007618
NM_013275.6(ANKRD11):c.587_591del (p.Val196fs) rs2035000908
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979
NM_014009.4(FOXP3):c.1156C>T (p.Arg386Cys) rs2066030589
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile) rs1665113651
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp) rs879255694
NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr) rs1259983553
NM_014252.4(SLC25A15):c.392A>C (p.Lys131Thr) rs1882123662
NM_014271.4(IL1RAPL1):c.1372+1G>T rs2147258665
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) rs122461161
NM_014271.4(IL1RAPL1):c.1743_1744del (p.Phe581fs)
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs) rs62637016
NM_014491.4(FOXP2):c.504G>T (p.Gln168His) rs1240175008
NM_014491.4(FOXP2):c.505C>T (p.Gln169Ter) rs1804799075
NM_014712.3(SETD1A):c.1245dup (p.Glu416fs) rs769744692
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014795.4(ZEB2):c.1000T>G (p.Cys334Gly) rs1703292012
NM_014822.4(SEC24D):c.2596C>T (p.Arg866Ter) rs1455251047
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014847.4(UBAP2L):c.1554del (p.Phe518fs)
NM_014927.5(CNKSR2):c.1090A>G (p.Arg364Gly)
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro) rs1678825469
NM_014946.4(SPAST):c.1111C>G (p.Leu371Val) rs1060499670
NM_014946.4(SPAST):c.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1173G>A (p.Leu391=) rs1679218212
NM_014946.4(SPAST):c.1321G>T (p.Asp441Tyr) rs1553318188
NM_014946.4(SPAST):c.1411G>A (p.Gly471Ser) rs1679558360
NM_014946.4(SPAST):c.1537-1G>T rs1553319280
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter) rs2071226510
NM_015001.3(SPEN):c.961C>T (p.Gln321Ter)
NM_015015.3(KDM4B):c.2550+2T>C
NM_015021.3(ZNF292):c.1711del (p.Cys571fs) rs1775150569
NM_015021.3(ZNF292):c.3014T>G (p.Leu1005Ter) rs1194108487
NM_015021.3(ZNF292):c.4196_4197insAA (p.Tyr1399Ter)
NM_015021.3(ZNF292):c.6220_6223del (p.Asn2074fs) rs1775463168
NM_015100.4(POGZ):c.1048_1051del (p.Arg350fs) rs1658036582
NM_015100.4(POGZ):c.72del (p.Ile25fs) rs2102370766
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly) rs1811011518
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly) rs1554504681
NM_015355.4(SUZ12):c.1603C>T (p.Arg535Ter)
NM_015443.4(KANSL1):c.2542-2A>G rs2077089395
NM_015443.4(KANSL1):c.2667-1G>A rs2077066926
NM_015557.3(CHD5):c.2795T>G (p.Leu932Arg)
NM_015559.3(SETBP1):c.3151dup (p.Tyr1051fs) rs2071382679
NM_015559.3(SETBP1):c.3770_3800dup (p.Gly1268fs) rs2071401524
NM_015629.4(PRPF31):c.-9+1G>T
NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs) rs2146445865
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1462_1472del (p.Lys488fs) rs2146458114
NM_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_015629.4(PRPF31):c.946-2A>C rs2073961843
NM_015909.4(NBAS):c.886-5T>A rs2148636532
NM_015915.5(ATL1):c.1228G>A (p.Gly410Arg) rs1555365854
NM_016026.4(RDH11):c.749G>A (p.Trp250Ter)
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016360.4(TACO1):c.252_253del (p.Cys85fs) rs2033819494
NM_016529.6(ATP8A2):c.779+2T>A rs2038495764
NM_016628.5(WAC):c.1722G>A (p.Trp574Ter) rs1841465878
NM_016628.5(WAC):c.497+2T>G
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) rs775657157
NM_017534.6(MYH2):c.4537+1G>C rs567336764
NM_017635.5(KMT5B):c.1843C>T (p.Arg615Ter) rs148005738
NM_017635.5(KMT5B):c.2597_2598del (p.Ser866fs) rs888239971
NM_017635.5(KMT5B):c.358del (p.Ser120fs) rs1856775300
NM_017635.5(KMT5B):c.554_557dup (p.Arg187fs) rs751145286
NM_017739.4(POMGNT1):c.1832T>C (p.Leu611Pro) rs1352149832
NM_017780.4(CHD7):c.3642G>T (p.Gln1214His)
NM_017780.4(CHD7):c.7782G>A (p.Trp2594Ter) rs769587871
NM_017934.7(PHIP):c.1654-1G>A rs1770032894
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr) rs1085307845
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_018116.4(MSTO1):c.716C>A (p.Ser239Tyr)
NM_018249.6(CDK5RAP2):c.5433C>A (p.Cys1811Ter) rs2032934405
NM_018263.6(ASXL2):c.1309C>T (p.Gln437Ter) rs2088021814
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018294.6(CWF19L1):c.708+1G>A rs1846978970
NM_018297.4(NGLY1):c.1881G>A (p.Trp627Ter) rs1704870760
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) rs200244203
NM_018419.3(SOX18):c.483_490del (p.Ala162fs) rs2145417422
NM_018426.3(TMEM63B):c.130G>A (p.Val44Met)
NM_018489.3(ASH1L):c.4651_4654del (p.Asn1551fs) rs1553264873
NM_018684.4(ZC4H2):c.566G>C (p.Cys189Ser)
NM_018928.3(PCDHGC4):c.2139dup (p.Lys714Ter) rs2154580803
NM_019023.5(PRMT7):c.1413+2T>G rs2086730156
NM_019098.5(CNGB3):c.1179-2A>T rs1057517167
NM_019108.4(SMG9):c.610dup (p.Val204fs) rs1968952487
NM_019892.6(INPP5E):c.1073C>T (p.Pro358Leu) rs1835755632
NM_020338.4(ZMIZ1):c.2307C>G (p.Tyr769Ter) rs540865745
NM_020338.4(ZMIZ1):c.2758C>T (p.Gln920Ter) rs1391182730
NM_020338.4(ZMIZ1):c.3042dup (p.Glu1015fs) rs1855126420
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg) rs2124448034
NM_020461.4(TUBGCP6):c.4315+1G>A rs2064482125
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs) rs1674480467
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_020706.2(SCAF4):c.1378C>T (p.Arg460Ter) rs775432821
NM_020706.2(SCAF4):c.1457_1458del (p.Lys486fs)
NM_020706.2(SCAF4):c.1471C>T (p.Arg491Ter)
NM_020706.2(SCAF4):c.2375del (p.Ala792fs) rs2050087993
NM_020719.3(PRR12):c.1146del (p.Ile383fs)
NM_020719.3(PRR12):c.4128_4129dup (p.Leu1377fs) rs2080798866
NM_020791.4(TAOK1):c.1575+1G>A
NM_020791.4(TAOK1):c.806G>C (p.Arg269Pro) rs1191085308
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_021008.4(DEAF1):c.748A>G (p.Lys250Glu) rs2133402368
NM_021120.4(DLG3):c.840+1G>A rs1212006965
NM_021160.3(ABHD16A):c.1456del (p.Tyr486fs) rs2151220219
NM_021937.5(EEFSEC):c.1169A>C (p.Asp390Ala)
NM_021937.5(EEFSEC):c.1751_1752dup (p.Val585fs)
NM_021964.3(ZNF148):c.1170_1173del (p.Leu390fs) rs1935950310
NM_021975.4(RELA):c.985C>T (p.Arg329Ter) rs1193014025
NM_022124.6(CDH23):c.3220+1G>A rs1487026359
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.429+2T>C rs763595608
NM_022124.6(CDH23):c.5369-1G>A rs1564791773
NM_022168.4(IFIH1):c.454-1G>A
NM_022436.3(ABCG5):c.1629_1638dup (p.Gly547fs) rs2104783876
NM_022455.5(NSD1):c.4303-1G>C rs1766101931
NM_022552.5(DNMT3A):c.448+1G>A rs2031953051
NM_022786.3(ARV1):c.309_310del (p.Cys104fs) rs1679188636
NM_022893.4(BCL11A):c.1555_1556del (p.Leu519fs) rs1676269150
NM_022893.4(BCL11A):c.55+1_55+2insCCCAA rs1670493547
NM_022893.4(BCL11A):c.55+5del rs1670493461
NM_022893.4(BCL11A):c.55C>T (p.Pro19Ser) rs1249313093
NM_022893.4(BCL11A):c.55_56insT (p.Pro19fs) rs1670493669
NM_024063.3(AFG2B):c.[213T>G;1313T>C]
NM_024496.4(IRF2BPL):c.581_599del (p.Gly194fs) rs1885159527
NM_024577.4(SH3TC2):c.805+2T>C rs139052887
NM_024665.7(TBL1XR1):c.1182_1183dup (p.Tyr395fs) rs2108414363
NM_024675.4(PALB2):c.212-2A>C rs730881879
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.293dup (p.Thr99fs) rs1967057228
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.3688dup (p.Arg1230fs) rs2133154359
NM_024757.5(EHMT1):c.643-2A>G rs2135782623
NM_024854.5(PYROXD1):c.1247_1250del (p.Asn416fs) rs1942824066
NM_024989.4(PGAP1):c.1089+1G>A rs1702127048
NM_024989.4(PGAP1):c.1089+5del rs2125818891
NM_025114.4(CEP290):c.5740G>T (p.Glu1914Ter) rs2035405646
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_030632.3(ASXL3):c.3721_3724dup (p.Ser1242fs) rs2067705734
NM_030632.3(ASXL3):c.4839_4890del (p.Met1614fs)
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030665.4(RAI1):c.2396del (p.Pro799fs) rs2032191929
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_030665.4(RAI1):c.613del (p.Gln205fs) rs2032103883
NM_031263.4(HNRNPK):c.1273G>T (p.Glu425Ter) rs1956765138
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031407.7(HUWE1):c.2320-19A>G
NM_031418.4(ANO3):c.1819A>T (p.Ile607Phe) rs1554976234
NM_031448.6(C19orf12):c.26T>G (p.Met9Arg) rs1242938563
NM_031844.3(HNRNPU):c.1801C>T (p.Arg601Ter) rs2102985743
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter) rs2061353270
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032108.4(SEMA6B):c.2067G>A (p.Trp689Ter) rs1977101756
NM_032119.4(ADGRV1):c.5665-231C>T
NM_032409.3(PINK1):c.1162T>C (p.Cys388Arg) rs1553146806
NM_032415.7(CARD11):c.358+1_358+9delinsAACATC
NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter) rs1555379968
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_033022.4(RPS24):c.273del (p.Ala92fs)
NM_033116.6(NEK9):c.874-2A>G rs1895020933
NM_033305.3(VPS13A):c.4413-1G>A rs2131429839
NM_033380.3(COL4A5):c.231+1G>T
NM_052867.4(NALCN):c.3522A>T (p.Arg1174Ser) rs2033787523
NM_052867.4(NALCN):c.4355del (p.Leu1452fs) rs2139438975
NM_052867.4(NALCN):c.951T>G (p.Phe317Leu)
NM_052988.5(CDK10):c.729del (p.Glu244fs) rs2060622260
NM_053274.3(GLMN):c.1470_1473del (p.Asn490fs) rs778651218
NM_058004.4(PI4KA):c.4901del (p.Thr1634fs)
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.2806del (p.Trp936fs)
NM_130839.5(UBE3A):c.2617_*12del (p.Ter873del) rs2074282420
NM_133433.4(NIPBL):c.5575-1G>A rs1750049152
NM_134261.3(RORA):c.274G>A (p.Gly92Ser)
NM_134261.3(RORA):c.919G>T (p.Glu307Ter) rs2065471243
NM_138459.5(NUS1):c.28_29dup (p.Val11fs) rs1772961410
NM_138459.5(NUS1):c.672_673del (p.Thr225fs) rs1773283124
NM_138576.4(BCL11B):c.2472C>A (p.Tyr824Ter) rs1886394733
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_152296.5(ATP1A3):c.235del (p.Trp79fs) rs2145983235
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu) rs369488804
NM_152564.5(VPS13B):c.11044+1G>A
NM_152564.5(VPS13B):c.9330+1G>A
NM_153252.5(BRWD3):c.100C>T (p.Gln34Ter) rs867076374
NM_153460.4(IL17RC):c.989G>A (p.Trp330Ter) rs2125252919
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_170707.4(LMNA):c.1158-2A>G rs267607636
NM_170707.4(LMNA):c.1399T>C (p.Trp467Arg) rs267607639
NM_172107.4(KCNQ2):c.2156del (p.Gln719fs)
NM_172107.4(KCNQ2):c.816+2T>C
NM_173477.5(USH1G):c.1382+2_1382+3del
NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp) rs775098953
NM_175748.4(UBR7):c.166C>T (p.Gln56Ter) rs995084790
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992
NM_176824.3(BBS7):c.2023_2029del (p.Thr675fs) rs1560636155
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_181783.4(TMTC3):c.199C>G (p.His67Asp) rs754200057
NM_182931.3(KMT2E):c.4336_4340del (p.His1446fs) rs2129570184
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp) rs587777236
NM_199334.5(THRA):c.818C>A (p.Thr273Asn) rs2145085082
NM_201253.3(CRB1):c.3541T>A (p.Cys1181Ser) rs62636291
NM_201525.4(ADGRG1):c.1167+3G>C rs587776623
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs) rs1698428309
NM_205768.3(ZBTB18):c.1174del (p.His392fs) rs1698429114
NM_205850.3(SLC24A5):c.301+1G>T
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073
NM_206933.4(USH2A):c.11389+2del rs2102741149
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806
NM_206933.4(USH2A):c.13491_13499dup (p.Thr4498_Thr4500dup) rs1349222819
NM_206933.4(USH2A):c.784+14389G>T
NM_206933.4(USH2A):c.9740-1G>A rs1662239185
NM_213599.3(ANO5):c.[1520del];[155A>G]
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) rs9153
NR_029422.2(RNU12):n.86G>A

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