ClinVar Miner

List of variants reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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ClinVar version:
Total variants: 2214
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HGVS dbSNP gnomAD frequency
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390 0.00310
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter) rs104894704 0.00068
NM_000379.4(XDH):c.1686+1G>C rs148412639 0.00057
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) rs137955225 0.00026
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_014000.3(VCL):c.2828_2829del (p.Pro943fs) rs781036800 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_018116.4(MSTO1):c.706G>C (p.Asp236His) rs753488873 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu) rs776826330 0.00012
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter) rs17854600 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter) rs149562813 0.00006
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) rs121908611 0.00006
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_001039141.3(TRIOBP):c.629-1G>C rs766809690 0.00005
NM_001267550.2(TTN):c.1800+1G>A rs397517497 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_004092.4(ECHS1):c.389T>A (p.Val130Asp) rs753793522 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter) rs374379931 0.00004
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) rs750797779 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001195263.2(PDZD7):c.2211del (p.Gln737fs) rs1157689930 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001292063.2(OTOG):c.6712G>A (p.Gly2238Ser) rs763848795 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109 0.00004
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676 0.00004
NM_024306.5(FA2H):c.620C>T (p.Thr207Met) rs372445274 0.00004
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00004
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg) rs111033434 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_182760.4(SUMF1):c.602+1G>A rs143616931 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile) rs541408630 0.00003
NM_000090.4(COL3A1):c.1509+2T>C rs1553508039 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.3100-2A>C rs759013925 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=) rs751844313 0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) rs376993881 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001039141.3(TRIOBP):c.5317C>T (p.Arg1773Ter) rs368112491 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_001330691.3(CEP78):c.1454del (p.Ser485fs) rs769767723 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) rs140403642 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338 0.00002
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) rs80338778 0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln) rs746220312 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter) rs746273959 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala) rs755154488 0.00002
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs) rs1298330895 0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_001145308.5(LRTOMT):c.358+4A>C rs545947177 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) rs730881097 0.00002
NM_001289808.2(CRYAB):c.325-2A>G rs202024436 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter) rs767633598 0.00002
NM_001378609.3(OTOGL):c.4082-1G>C rs756233978 0.00002
NM_001378609.3(OTOGL):c.4601-2A>G rs368266167 0.00002
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764 0.00002
NM_004130.4(GYG1):c.7+1G>A rs949456055 0.00002
NM_012186.3(FOXE3):c.632C>A (p.Ser211Ter) rs1035206433 0.00002
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997 0.00002
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter) rs267604575 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_017534.6(MYH2):c.1008+1G>A rs781504304 0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys) rs769266169 0.00002
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) rs374530179 0.00002
NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter) rs752457309 0.00002
NM_024077.5(SECISBP2):c.182+1G>A rs1477854736 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_138691.3(TMC1):c.674C>T (p.Pro225Leu) rs370088722 0.00002
NM_153700.2(STRC):c.2141T>C (p.Leu714Pro) rs776039868 0.00002
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr) rs769653717 0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.2575+1G>C rs766149114 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000053.4(ATP7B):c.3556+1G>A rs184388696 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) rs377144951 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.44del (p.Ser15fs) rs1192728612 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088 0.00001
NM_000138.5(FBN1):c.347-2A>G rs1555405056 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.2779dup (p.Ile927fs) rs587782277 0.00001
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185 0.00001
NM_000256.3(MYBPC3):c.406+1G>A rs1223603416 0.00001
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe) rs397516068 0.00001
NM_000257.4(MYH7):c.1315A>T (p.Met439Leu) rs370310929 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.160C>T (p.Arg54Ter) rs761841748 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.2063del (p.Leu688fs) rs888930078 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.4065del (p.His1355fs) rs111033202 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5945G>A (p.Gly1982Glu) rs111033250 0.00001
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val) rs749661379 0.00001
NM_000277.3(PAH):c.545A>G (p.Glu182Gly) rs199475617 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000363.5(TNNI3):c.12-1G>T rs397516340 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) rs1553411468 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000527.5(LDLR):c.1060+2T>G rs774069731 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 0.00001
NM_000527.5(LDLR):c.314-2A>C rs879254470 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) rs755799528 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2382dup (p.Gly795fs) rs1231406078 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys) rs112772310 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_000685.5(AGTR1):c.110dup (p.Ile38fs) rs387906577 0.00001
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329 0.00001
NM_000843.4(GRM6):c.2041C>T (p.Gln681Ter) rs769355168 0.00001
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter) rs745776920 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter) rs1193962006 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) rs745921592 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001080476.3(GRXCR1):c.784C>T (p.Arg262Ter) rs761349153 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666 0.00001
NM_001195248.2(APTX):c.46C>T (p.Arg16Ter) rs1015321377 0.00001
NM_001256317.3(TMPRSS3):c.1025G>A (p.Gly342Glu) rs397517368 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) rs373058706 0.00001
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001256850.1(TTN):c.38621dup (p.Phe12875fs) rs752856716 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter) rs991187915 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.1489G>T (p.Glu497Ter) rs1185562018 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.57995del (p.His19332fs) rs397517633 0.00001
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter) rs748970759 0.00001
NM_001292063.2(OTOG):c.4657G>T (p.Gly1553Ter) rs897822685 0.00001
NM_001292063.2(OTOG):c.6555G>A (p.Trp2185Ter) rs1193023501 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001378609.3(OTOGL):c.39G>A (p.Trp13Ter) rs1191512072 0.00001
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs) rs766971906 0.00001
NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter) rs777752091 0.00001
NM_001378778.1(MPDZ):c.4906C>T (p.Arg1636Ter) rs797045095 0.00001
NM_001379500.1(COL18A1):c.3241C>T (p.Arg1081Ter) rs771752014 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_002337.4(LRPAP1):c.181C>T (p.Gln61Ter) rs773243225 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003401.5(XRCC4):c.628A>T (p.Lys210Ter) rs991596636 0.00001
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter) rs1317221906 0.00001
NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter) rs765155697 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter) rs764424917 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.6155G>A (p.Cys2052Tyr) rs727503467 0.00001
NM_005422.4(TECTA):c.6163-2A>T rs876657661 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_007294.4(BRCA1):c.301+1G>T rs587782173 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001
NM_014000.3(VCL):c.1713del (p.Ala573fs) rs779488376 0.00001
NM_014000.3(VCL):c.562C>T (p.Arg188Ter) rs397517244 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) rs1057516465 0.00001
NM_015340.4(LARS2):c.1520C>G (p.Pro507Arg) rs1553635112 0.00001
NM_015386.3(COG4):c.529C>T (p.Arg177Ter) rs376663459 0.00001
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_015909.4(NBAS):c.1987C>T (p.Gln663Ter) rs761330483 0.00001
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) rs1774516234 0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) rs727503312 0.00001
NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln) rs1001523088 0.00001
NM_017433.5(MYO3A):c.3274+1G>T rs201538580 0.00001
NM_019032.6(ADAMTSL4):c.1712C>A (p.Ser571Ter) rs754125407 0.00001
NM_021957.4(GYS2):c.1081del (p.Thr361fs) rs771205749 0.00001
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022725.4(FANCF):c.690del (p.Gly231fs) rs747622521 0.00001
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr) rs567437692 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys) rs876657647 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NM_033100.4(CDHR1):c.1744A>T (p.Lys582Ter) rs142980820 0.00001
NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter) rs1239366051 0.00001
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062 0.00001
NM_133378.4(TTN):c.49028dup (p.Asp16343fs) rs397517626 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys) rs1354592503 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.356+1G>C rs794728589 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_205850.3(SLC24A5):c.1078+1G>A rs1450652793 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NC_000001.10:g.(?_216011333)_(216040512_?)del
NC_000001.11:g.115732927_115732929delinsGT rs397516643
NC_000001.11:g.45331557del
NC_000003.12:g.10141773_10141793del rs727503744
NC_000005.10:g.173233142_173233144delinsAT rs397516908
NC_000006.12:g.(?_133506020)_(133528840_?)del
NC_000007.14:g.107672230_107672231delinsA rs111033400
NC_000007.14:g.150952854dup
NC_000007.14:g.74056273del rs727503031
NC_000010.11:g.(?_71645831)_(71646617_?)del
NC_000010.11:g.71645936_71645956del rs397517305
NC_000011.10:g.(?_112095256)_(112095357_?)del
NC_000011.10:g.47336009del rs397515979
NC_000011.10:g.47347065C>T rs864622197
NC_000012.11:g.80632665_80732812del
NC_000013.11:g.32337455dup rs886040460
NC_000013.11:g.32363535T>A rs398122602
NC_000014.9:g.(?_23412738)_(23420234_?)del
NC_000015.10:g.43611494_43611509del rs1555447538
NC_000015.10:g.48434694_48434695delinsC rs397515834
NC_000015.10:g.48610805_48610806delinsG rs397515778
NC_000017.11:g.38339517_38339521delinsGTAGATCA rs886043488
NC_000019.10:g.(?_11110652)_(11110771_?)dup
NC_000019.10:g.(?_11111514)_(11111639_?)del
NC_000019.10:g.(?_11128008)_(11128085_?)del
NC_000019.9:g.(?_11230768)_(11240346_?)dup
NC_000023.10:g.(?_153640181)_(153641904_?)del
NC_000023.11:g.(?_120447773)_(120449188_?)del
NC_012920.1(MT-CYB):m.1027A>G rs727504555
NC_012920.1(MT-ND1):m.1494C>T rs267606619
NM_000020.3(ACVRL1):c.404del (p.Leu135fs)
NM_000020.3(ACVRL1):c.852_853del (p.Tyr286fs)
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000038.6(APC):c.1409-2A>G rs1064794163
NM_000038.6(APC):c.4255del (p.Ser1419fs) rs727504420
NM_000038.6(APC):c.5585dup (p.Leu1862fs) rs1554086823
NM_000038.6(APC):c.5718del (p.Ala1907fs) rs1554086923
NM_000038.6(APC):c.6542_6545del (p.Ile2181fs) rs1554087515
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) rs768922431
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) rs876659280
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000051.4(ATM):c.1743dup (p.Phe582fs)
NM_000051.4(ATM):c.1904_1905del (p.His635fs)
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7674dup (p.Ile2559fs)
NM_000051.4(ATM):c.8031T>G (p.Tyr2677Ter)
NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter) rs2140071850
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs) rs772000260
NM_000053.4(ATP7B):c.1564del (p.Ala522fs)
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.2002del (p.Leu667_Met668insTer)
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs) rs1958499462
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) rs121907997
NM_000053.4(ATP7B):c.2447+1G>T rs1958431105
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334
NM_000053.4(ATP7B):c.3547_3548del (p.Ala1183fs)
NM_000053.4(ATP7B):c.3649del (p.Val1217fs)
NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)
NM_000053.4(ATP7B):c.4011dup (p.Ile1338fs)
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.421C>T (p.Gln141Ter)
NM_000053.4(ATP7B):c.918_931del (p.Ser307fs) rs1951995448
NM_000059.4(BRCA2):c.1362del (p.Lys454fs) rs80359282
NM_000059.4(BRCA2):c.1804G>T (p.Gly602Ter) rs80358466
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter) rs80358523
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs) rs80359356
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter) rs876659258
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.4163del (p.Thr1388fs)
NM_000059.4(BRCA2):c.4464del (p.His1488fs)
NM_000059.4(BRCA2):c.4714_4715insGCAAAGAC (p.Ala1572fs)
NM_000059.4(BRCA2):c.4718_4719del (p.Ala1572_Cys1573insTer)
NM_000059.4(BRCA2):c.4780_4787del (p.Met1594fs)
NM_000059.4(BRCA2):c.4804A>T (p.Lys1602Ter) rs1566231167
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.5365A>T (p.Lys1789Ter) rs587782240
NM_000059.4(BRCA2):c.5569del (p.Glu1857fs)
NM_000059.4(BRCA2):c.572A>G (p.Asp191Gly) rs397507798
NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter) rs886038131
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000059.4(BRCA2):c.5960del (p.Gln1987fs)
NM_000059.4(BRCA2):c.607_610del (p.Thr203fs)
NM_000059.4(BRCA2):c.6588_6589del (p.Lys2196fs) rs397507868
NM_000059.4(BRCA2):c.6602del (p.Ser2201fs) rs431825343
NM_000059.4(BRCA2):c.6841+1G>A rs773863936
NM_000059.4(BRCA2):c.6887del (p.Ile2296fs)
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter) rs886040685
NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter) rs886040687
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs) rs878853599
NM_000059.4(BRCA2):c.7219_7220del (p.Val2407fs) rs2137556981
NM_000059.4(BRCA2):c.7577_7580del (p.Ala2526fs)
NM_000059.4(BRCA2):c.7582_7583insA (p.Gly2528fs)
NM_000059.4(BRCA2):c.7884dup (p.Trp2629fs) rs397507943
NM_000059.4(BRCA2):c.794-2A>G rs1566222053
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7976+1G>A rs81002873
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8833C>T (p.Gln2945Ter)
NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter) rs886040801
NM_000059.4(BRCA2):c.8954-1G>A rs1555288435
NM_000059.4(BRCA2):c.9016_9017del (p.Tyr3006fs) rs80359739
NM_000059.4(BRCA2):c.9074_9075del (p.Ile3025fs) rs397508034
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter) rs398122610
NM_000059.4(BRCA2):c.9269dup (p.Val3091fs) rs80359753
NM_000059.4(BRCA2):c.9278T>A (p.Leu3093Ter)
NM_000059.4(BRCA2):c.9399del (p.Gly3134fs)
NM_000059.4(BRCA2):c.9649-1G>T rs1555289898
NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter) rs1566261010
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) rs80338782
NM_000071.3(CBS):c.1039+2T>G
NM_000071.3(CBS):c.210-2A>C
NM_000071.3(CBS):c.833T>G (p.Ile278Ser)
NM_000071.3(CBS):c.955-2A>C
NM_000071.3(CBS):c.955-2A>T
NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs) rs1574007436
NM_000090.4(COL3A1):c.1173del (p.Pro392fs) rs1553507863
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg) rs587779637
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp) rs553203474
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala) rs587779589
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.4(COL3A1):c.570del (p.Pro191fs)
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000093.5(COL5A1):c.3688C>T (p.Gln1230Ter)
NM_000094.4(COL7A1):c.2993-2A>G rs1553612928
NM_000094.4(COL7A1):c.3139+1G>A
NM_000094.4(COL7A1):c.7557+1G>T rs786204774
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000117.3(EMD):c.83-2A>G rs727504901
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter) rs1283214655
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000135.4(FANCA):c.1952del (p.Gly651fs)
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) rs1450151864
NM_000136.3(FANCC):c.34del (p.Tyr12fs)
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs) rs397515758
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.5(FBN1):c.164+2T>C rs727503058
NM_000138.5(FBN1):c.1714+2del rs876657645
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1837+1G>T rs397515762
NM_000138.5(FBN1):c.1948dup (p.Arg650fs) rs1566913982
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser) rs397515770
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp) rs397515771
NM_000138.5(FBN1):c.247+2dup rs397515772
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly) rs397515773
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg) rs2043595650
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter) rs397515779
NM_000138.5(FBN1):c.2833del (p.Ala945fs) rs397515781
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser) rs727505110
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr) rs397515782
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe) rs397515782
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter)
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.32_42del (p.Leu11fs) rs397515785
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser) rs397515790
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr) rs397515791
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His) rs397515793
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala) rs397515796
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser) rs397515799
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys) rs397515801
NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del) rs397515803
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4291T>C (p.Cys1431Arg)
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.5(FBN1):c.4490G>A (p.Cys1497Tyr) rs1555397212
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs) rs727503056
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser) rs397515818
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
NM_000138.5(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter) rs397515820
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg) rs363853
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.5453G>A (p.Cys1818Tyr) rs2141256069
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu) rs113086760
NM_000138.5(FBN1):c.561del (p.Phe187fs) rs397515825
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys) rs397515826
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.5(FBN1):c.5888del (p.Glu1963fs) rs727504315
NM_000138.5(FBN1):c.6012C>G (p.Tyr2004Ter)
NM_000138.5(FBN1):c.6013_6014insTA (p.Ser2005fs)
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter) rs397515831
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr) rs363821
NM_000138.5(FBN1):c.6617-9_6617-8inv
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp) rs397515836
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr) rs1060501054
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter) rs397515840
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr) rs137854457
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr) rs397515845
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs) rs1597516501
NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter) rs794728271
NM_000138.5(FBN1):c.7453+1G>T rs397515851
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer) rs397515852
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.5(FBN1):c.7571-1G>A rs1566891706
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala) rs397515853
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del) rs727504454
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) rs397515864
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro) rs397515865
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs) rs397515866
NM_000140.5(FECH):c.47del (p.Gly16fs) rs2051380165
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000153.4(GALC):c.1162-2A>G
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter) rs149171124
NM_000159.4(GCDH):c.565dup (p.Ser189fs)
NM_000162.5(GCK):c.116_123dup (p.Asp42fs)
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.351_358del (p.Thr118fs)
NM_000162.5(GCK):c.641dup (p.Tyr214Ter) rs2128821490
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.717A>G (p.Ile239Met) rs1928192530
NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT rs727504773
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000171.4(GLRA1):c.403del (p.His135fs) rs1581623798
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs) rs1553412609
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1630del (p.Glu544fs)
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2410_2411insT (p.Lys804fs)
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter) rs746306598
NM_000179.3(MSH6):c.2534_2538del (p.Met844_Tyr845insTer)
NM_000179.3(MSH6):c.260+2T>A rs1553408469
NM_000179.3(MSH6):c.260+2T>G
NM_000179.3(MSH6):c.2759del (p.Lys920fs) rs1114167794
NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter) rs774755404
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs) rs1384780420
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.3(MSH6):c.3261_3262del (p.Phe1088fs) rs1669747095
NM_000179.3(MSH6):c.3430_3431insAA (p.Met1144fs)
NM_000179.3(MSH6):c.3556+2T>G
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs) rs1572741984
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs) rs1572747278
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter) rs1572747685
NM_000179.3(MSH6):c.675_676dup (p.Glu226fs) rs2104290462
NM_000179.3(MSH6):c.742dup (p.Arg248fs) rs1572720192
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
NM_000187.4(HGD):c.140C>T (p.Ser47Leu) rs369517993
NM_000187.4(HGD):c.532G>T (p.Glu178Ter) rs1941184654
NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter)
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter) rs794728530
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.3(KCNQ1):c.1591-1G>A rs1590081328
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser) rs120074185
NM_000218.3(KCNQ1):c.1685+2T>G rs1590081467
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1732+1G>T
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.191del (p.Pro64fs)
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.683+1G>A rs1589957233
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.826del (p.Ser276fs) rs786204778
NM_000218.3(KCNQ1):c.919del (p.Val307fs) rs2133733071
NM_000228.3(LAMB3):c.2685_2701+2del rs1571803654
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer)
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs)
NM_000238.4(KCNH2):c.2692+1del
NM_000238.4(KCNH2):c.2692+2_2692+4del
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) rs794728449
NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs)
NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs)
NM_000238.4(KCNH2):c.893del (p.Pro298fs) rs1563169382
NM_000246.4(CIITA):c.338dup (p.Leu114fs) rs1596513253
NM_000249.4(MLH1):c.1451del (p.Asp484fs)
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.4(MLH1):c.765_766insA (p.Cys256fs)
NM_000249.4(MLH1):c.83del (p.Pro28fs)
NM_000249.4(MLH1):c.885-1G>T
NM_000251.3(MSH2):c.1213_1217dup (p.Leu407fs)
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1587del (p.Glu530fs) rs63750845
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1950dup (p.Ile651fs) rs1114167844
NM_000251.3(MSH2):c.2332del (p.Cys778fs) rs1573574188
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.3(MSH2):c.85A>T (p.Lys29Ter) rs1060502001
NM_000251.3(MSH2):c.940del (p.Gln314fs)
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.942+1del rs1194793421
NM_000251.3(MSH2):c.943-1G>T rs12476364
NM_000251.3(MSH2):c.989dup (p.Asn331fs) rs1114167813
NM_000256.3(MYBPC3):c.(?_26)_(1090_?)del
NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser) rs727504279
NM_000256.3(MYBPC3):c.139_140insTG (p.Ser47fs)
NM_000256.3(MYBPC3):c.140_141insC (p.Ser47_Asp48insTer)
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.2050C>T (p.Gln684Ter)
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del) rs397515972
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2965G>T (p.Glu989Ter) rs727503178
NM_000256.3(MYBPC3):c.2994+2T>C rs727503176
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.343G>T (p.Gly115Ter) rs727503220
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs) rs727504321
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.622C>T (p.Gln208Ter) rs1595849603
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.773-2A>T rs1595848628
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1142C>A (p.Ala381Asp) rs1265368591
NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly) rs3218714
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val) rs397516095
NM_000257.4(MYH7):c.1273G>A (p.Gly425Arg) rs397516097
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs) rs727504336
NM_000257.4(MYH7):c.1549C>A (p.Leu517Met) rs727504237
NM_000257.4(MYH7):c.1584G>A (p.Met528Ile) rs727503265
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu) rs1060501443
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala) rs397516121
NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys) rs397516122
NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser) rs397516123
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys) rs727504925
NM_000257.4(MYH7):c.1888+1G>A rs113186231
NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala) rs1555338080
NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln) rs727503264
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala) rs397516134
NM_000257.4(MYH7):c.2145C>A (p.Tyr715Ter)
NM_000257.4(MYH7):c.2162+1G>A rs752554104
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu) rs727504241
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2242T>C (p.Ser748Pro) rs876657879
NM_000257.4(MYH7):c.2287G>A (p.Val763Met) rs727504253
NM_000257.4(MYH7):c.2347C>G (p.Arg783Gly) rs727503258
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys) rs727503258
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) rs397516142
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.4(MYH7):c.2513C>A (p.Pro838Gln) rs397516153
NM_000257.4(MYH7):c.2527G>A (p.Ala843Thr) rs727505132
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) rs397516156
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys) rs730880750
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro) rs397516166
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys) rs397516170
NM_000257.4(MYH7):c.2779G>T (p.Glu927Ter)
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) rs397516172
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
NM_000257.4(MYH7):c.3346G>T (p.Glu1116Ter)
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) rs397516190
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.457del (p.His153fs) rs397516224
NM_000257.4(MYH7):c.505A>G (p.Arg169Gly) rs727504267
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys) rs397516237
NM_000257.4(MYH7):c.507A>T (p.Arg169Ser) rs397516238
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly) rs397516252
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) rs397516253
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.739T>C (p.Phe247Leu) rs727503276
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr) rs727504280
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter) rs730880852
NM_000257.4(MYH7):c.799C>G (p.Leu267Val) rs727504409
NM_000257.4(MYH7):c.854T>C (p.Ile285Thr) rs1555338574
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) rs111033286
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) rs797044492
NM_000260.4(MYO7A):c.1690+1G>A rs111033389
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer) rs397516290
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1935+4A>T
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) rs111033510
NM_000260.4(MYO7A):c.2094+1G>C rs111033404
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.284A>T (p.Tyr95Phe) rs797044489
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.314T>G (p.Val105Gly) rs876657654
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) rs111033239
NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro) rs111033482
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs) rs111033390
NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp) rs397516301
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) rs397516310
NM_000260.4(MYO7A):c.4442-2A>C rs111033337
NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr) rs397516312
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5327-11A>G rs397516316
NM_000260.4(MYO7A):c.5464A>C (p.Thr1822Pro) rs727504541
NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) rs397516324
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000274.4(OAT):c.742G>T (p.Gly248Ter)
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) rs867245161
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000295.5(SERPINA1):c.-5+1G>A
NM_000295.5(SERPINA1):c.82del (p.Gln28fs)
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000307.5(POU3F4):c.1086_*3del (p.Ter362TrpextTer?) rs727503377
NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter) rs111033343
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) rs397516335
NM_000307.5(POU3F4):c.968G>A (p.Arg323His) rs727505246
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) rs750201480
NM_000321.3(RB1):c.1216-1G>A rs587778831
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.5(SCN5A):c.2954del (p.Leu985fs)
NM_000335.5(SCN5A):c.2971_2972del (p.Lys991fs)
NM_000335.5(SCN5A):c.3208G>T (p.Glu1070Ter)
NM_000335.5(SCN5A):c.3214G>T (p.Glu1072Ter)
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
NM_000335.5(SCN5A):c.3954_3960+1dup rs2061267874
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4243-2A>G rs1575719863
NM_000335.5(SCN5A):c.4393del (p.Ile1465fs)
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.5390G>A (p.Trp1797Ter)
NM_000335.5(SCN5A):c.704-2A>G rs1553705586
NM_000337.6(SGCD):c.294+1G>A rs727503422
NM_000337.6(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000344.4(SMN1):c.835G>C (p.Gly279Arg)
NM_000363.5(TNNI3):c.1A>G (p.Met1Val) rs397516341
NM_000363.5(TNNI3):c.431T>C (p.Leu144Pro) rs121917760
NM_000363.5(TNNI3):c.464T>C (p.Met155Thr) rs397516352
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys) rs397516356
NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr) rs727503500
NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro) rs104894729
NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu) rs104894729
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr) rs727504365
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000368.5(TSC1):c.1997+2T>C
NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter)
NM_000369.5(TSHR):c.545+2_545+3del rs786204790
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000384.3(APOB):c.3778G>T (p.Glu1260Ter) rs144892654
NM_000384.3(APOB):c.4139_4140del (p.Thr1380fs)
NM_000384.3(APOB):c.631C>T (p.Gln211Ter) rs143301836
NM_000384.3(APOB):c.78_82+5del
NM_000384.3(APOB):c.8739_8740del (p.Leu2914fs)
NM_000384.3(APOB):c.8898dup (p.His2967fs)
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) rs759664259
NM_000406.3(GNRHR):c.351_352del (p.Ser118fs)
NM_000410.4(HFE):c.616+1G>A
NM_000419.5(ITGA2B):c.189-1G>C
NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter)
NM_000426.4(LAMA2):c.5563-2A>G rs786204779
NM_000428.3(LTBP2):c.4597C>T (p.Gln1533Ter) rs1446110883
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.4(MYL2):c.260G>C (p.Gly87Ala) rs397516399
NM_000432.4(MYL2):c.482A>G (p.His161Arg) rs727503296
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.488A>C (p.Glu163Ala) rs397516407
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg) rs397516408
NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?))
NM_000441.2(SLC26A4):c.1149+1G>T
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs) rs111033317
NM_000441.2(SLC26A4):c.1707+6T>C rs727505230
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000486.6(AQP2):c.127C>T (p.Gln43Ter) rs1481158831
NM_000492.4(CFTR):c.3546C>A (p.Tyr1182Ter)
NM_000494.4(COL17A1):c.2435-6_2440del rs797045084
NM_000494.4(COL17A1):c.3821_3829delinsC (p.Gly1274fs) rs1210666598
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) rs63748989
NM_000501.4(ELN):c.1733del (p.Pro578fs) rs727503782
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.741del (p.Thr248fs) rs727503026
NM_000503.6(EYA1):c.1195dup (p.Leu399fs) rs1585820240
NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn) rs397517918
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000517.6(HBA2):c.2T>G (p.Met1Arg)
NM_000518.5(HBB):c.-121C>T rs281864518
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) rs879254758
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val) rs28942081
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1845+2del
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.18G>A (p.Trp6Ter)
NM_000527.5(LDLR):c.1984A>T (p.Arg662Ter)
NM_000527.5(LDLR):c.1988_2140+1064del
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) rs879254437
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2207dup (p.Arg737fs) rs879255164
NM_000527.5(LDLR):c.2259_2277del (p.Gly754fs)
NM_000527.5(LDLR):c.2312-1G>T
NM_000527.5(LDLR):c.2322del (p.Asp774fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.244_246del (p.Cys82del) rs1568591929
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp) rs121908037
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) rs875989894
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.313+1G>T rs112029328
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.520G>T (p.Glu174Ter) rs777326720
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.817+1G>C
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.973T>C (p.Cys325Arg) rs1568600328
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000531.6(OTC):c.865_866del (p.Lys289fs)
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs) rs757679199
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
NM_000535.7(PMS2):c.1231G>T (p.Glu411Ter)
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1332del (p.Ser445fs) rs1554297877
NM_000535.7(PMS2):c.13dup (p.Glu5fs)
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) rs876659162
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)
NM_000535.7(PMS2):c.2350del (p.Asp784fs)
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.304G>T (p.Glu102Ter)
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter) rs1554303861
NM_000535.7(PMS2):c.559dup (p.Val187fs)
NM_000535.7(PMS2):c.63_75del (p.Ser22fs)
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.741del (p.Ser248fs) rs1583374709
NM_000535.7(PMS2):c.802del (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000540.3(RYR1):c.11193+1G>A
NM_000540.3(RYR1):c.1202G>A (p.Arg401His) rs193922766
NM_000540.3(RYR1):c.14364+1G>A rs1974046221
NM_000540.3(RYR1):c.1441-2A>G
NM_000540.3(RYR1):c.14490dup (p.Val4831fs) rs2145895408
NM_000540.3(RYR1):c.1999dup (p.Val667fs)
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter) rs371455345
NM_000540.3(RYR1):c.2578-2A>G
NM_000540.3(RYR1):c.3364del (p.Val1122fs)
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu) rs28933396
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.7968C>A (p.Cys2656Ter)
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1238_1239dup (p.Ile414fs)
NM_000545.8(HNF1A):c.1487_1494del (p.Leu496fs)
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.672+2T>A rs1555525703
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.6(TP53):c.784_785insAAGCC (p.Gly262fs)
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.463+2T>G rs5030814
NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)
NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)
NM_000552.5(VWF):c.2968-1G>A
NM_000552.5(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000558.5(HBA1):c.60del (p.His21fs)
NM_000558.5(HBA1):c.99G>A (p.Met33Ile)
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter) rs267606639
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter) rs2060639501
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe) rs775858617
NM_001001548.3(CD36):c.380C>G (p.Ser127Ter) rs201765331
NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs) rs1200683561
NM_001005242.3(PKP2):c.1034+1G>T rs869025496
NM_001005242.3(PKP2):c.1034+1del rs1555148011
NM_001005242.3(PKP2):c.1035-1G>A rs1555147210
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1271T>C (p.Phe424Ser) rs397516990
NM_001005242.3(PKP2):c.12del (p.Gly5fs)
NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer) rs876657659
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1378G>A (p.Gly460Ser)
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005242.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_001005242.3(PKP2):c.155dup (p.Ser53fs) rs958681660
NM_001005242.3(PKP2):c.1577del (p.Ala526fs) rs397517005
NM_001005242.3(PKP2):c.1627del (p.Val543fs) rs397517008
NM_001005242.3(PKP2):c.1628del (p.Val543fs) rs397517009
NM_001005242.3(PKP2):c.1657del (p.Tyr553fs)
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1708del (p.Leu570fs) rs1555142994
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter) rs397517017
NM_001005242.3(PKP2):c.20del (p.Pro7fs)
NM_001005242.3(PKP2):c.2108del (p.Lys703fs) rs1565574709
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) rs397517022
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2419del (p.Thr807fs) rs727504786
NM_001005242.3(PKP2):c.269_272del (p.Leu90fs) rs397517025
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.385C>T (p.Gln129Ter)
NM_001005242.3(PKP2):c.654_655del (p.His218fs) rs1591828796
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_001005242.3(PKP2):c.968_975dup (p.Ala326fs) rs1555148032
NM_001005242.3(PKP2):c.971_972insCGCCT (p.Ala326fs)
NM_001008537.3(NEXMIF):c.1771A>T (p.Lys591Ter)
NM_001008844.3(DSP):c.3582+1242dup rs727503003
NM_001009944.3(PKD1):c.4196G>A (p.Trp1399Ter)
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) rs781627051
NM_001013703.4(EIF2AK4):c.4593del (p.Ile1533fs) rs1327297003
NM_001015880.2(PAPSS2):c.1662_1666del (p.Phe555fs) rs797045099
NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn) rs397516363
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) rs397516364
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) rs397516370
NM_001018005.2(TPM1):c.416A>T (p.Glu139Val) rs727504389
NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) rs397516371
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr) rs876657662
NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln) rs727504264
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018115.3(FANCD2):c.1278+1G>T
NM_001031679.3(MSRB3):c.264-1G>A rs201306709
NM_001035.2(RYR2):c.(?_169)_(273_?)del
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) rs397516508
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001038.6(SCNN1A):c.942del (p.Asn315fs) rs1555112332
NM_001038603.3(MARVELD2):c.188C>A (p.Ser63Ter)
NM_001039.4(SCNN1G):c.1318C>T (p.Arg440Ter) rs764425655
NM_001039141.3(TRIOBP):c.1195C>T (p.Arg399Ter) rs750078356
NM_001039141.3(TRIOBP):c.138_153del (p.Glu47fs)
NM_001039141.3(TRIOBP):c.390dup (p.Gly131fs)
NM_001039876.1(SYNE4):c.(?_1)_(1215_?)del
NM_001041.4(SI):c.2159+2T>G rs1553775177
NM_001041.4(SI):c.834_837del (p.Gln278fs)
NM_001042413.2(GLIS3):c.571_572dup (p.Leu191_Asn192insTer) rs1586744173
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.3200_3201insATTTT (p.Asp1067fs)
NM_001042492.3(NF1):c.3202_3203dup (p.Leu1068fs)
NM_001042492.3(NF1):c.7190-1G>A rs2070073417
NM_001042492.3(NF1):c.7970+2T>G
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001077365.2(POMT1):c.184del (p.Asp62fs)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001079802.2(FKTN):c.528dup (p.His177fs) rs1588112379
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter) rs1589233357
NM_001083961.2(WDR62):c.1495C>T (p.Gln499Ter)
NM_001083962.2(TCF4):c.922+3G>T rs2145955178
NM_001089.3(ABCA3):c.1609_1611+4delinsCCA rs876657633
NM_001089.3(ABCA3):c.2053-1G>C rs1596842934
NM_001105247.2(ARMC5):c.1767_1771dup (p.Leu591fs) rs1596605496
NM_001109809.5(ZFP57):c.448C>T (p.Gln150Ter) rs762074022
NM_001127222.2(CACNA1A):c.6303+1G>A rs1600088360
NM_001127510.3(APC):c.1917dup (p.Arg640fs) rs397515732
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001128228.3(TPRN):c.107del (p.Gly36fs) rs1011757302
NM_001128228.3(TPRN):c.25del (p.Ser9fs)
NM_001128228.3(TPRN):c.440_444del (p.Arg147fs)
NM_001128228.3(TPRN):c.505_542del (p.Pro169fs)
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) rs727504859
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001142864.4(PIEZO1):c.5040C>A (p.Tyr1680Ter)
NM_001164508.2(NEB):c.12547G>T (p.Glu4183Ter)
NM_001164508.2(NEB):c.13672G>T (p.Glu4558Ter)
NM_001164508.2(NEB):c.16294C>T (p.Gln5432Ter)
NM_001164508.2(NEB):c.20049T>A (p.Tyr6683Ter)
NM_001164508.2(NEB):c.23743-1G>C rs797045098
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs) rs730882064
NM_001195263.2(PDZD7):c.604del (p.Ser202fs)
NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)
NM_001199799.2(ILDR1):c.377del (p.Asn126fs)
NM_001199799.2(ILDR1):c.912del (p.Asp305fs)
NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro) rs876657748
NM_001232.4(CASQ2):c.940-1G>T rs876657635
NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro) rs672601371
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) rs565348874
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs) rs1553503113
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs) rs869312122
NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs) rs876657663
NM_001267550.2(TTN):c.102850del (p.His34284fs)
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter) rs397517787
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)
NM_001267550.2(TTN):c.106953C>G (p.Tyr35651Ter)
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter) rs1553940122
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.13357_13358del (p.Glu4453fs)
NM_001267550.2(TTN):c.15496+1G>A rs397517481
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs) rs1060500528
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) rs727504843
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs) rs727504452
NM_001267550.2(TTN):c.3937A>T (p.Lys1313Ter)
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.40791dup (p.Lys13598fs)
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41610del (p.Val13871fs) rs397517565
NM_001267550.2(TTN):c.41717G>A (p.Trp13906Ter)
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42968dup (p.Pro14324fs) rs1553741321
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.45895+1G>A rs727504589
NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) rs397517584
NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter) rs879139686
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter) rs397517586
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) rs397517587
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) rs397517589
NM_001267550.2(TTN):c.48761-1G>C rs876657665
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51870del (p.Glu17291fs) rs1553691320
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs) rs727503615
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) rs397517620
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter) rs727503598
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter) rs764985774
NM_001267550.2(TTN):c.56647+1G>A rs397517624
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer) rs1553662326
NM_001267550.2(TTN):c.57215del (p.Gly19072fs) rs397517628
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62751del (p.Val20918fs)
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64094-2A>G rs876657667
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter) rs1576014673
NM_001267550.2(TTN):c.64397-1G>C rs876657668
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) rs397517698
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) rs727505352
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs) rs397517679
NM_001267550.2(TTN):c.70275del (p.Ser23425fs) rs727504655
NM_001267550.2(TTN):c.70915_70918del (p.Tyr23639fs)
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.72799C>T (p.Gln24267Ter)
NM_001267550.2(TTN):c.73185T>A (p.Tyr24395Ter) rs794729283
NM_001267550.2(TTN):c.73387del (p.Ala24463fs) rs1553607425
NM_001267550.2(TTN):c.73827del (p.Glu24609fs) rs397517695
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.74707C>T (p.Gln24903Ter)
NM_001267550.2(TTN):c.75443del (p.Gly25148fs) rs1553603456
NM_001267550.2(TTN):c.76195del (p.Ala25399fs)
NM_001267550.2(TTN):c.77149_77150del (p.Leu25717fs)
NM_001267550.2(TTN):c.77421C>A (p.Tyr25807Ter)
NM_001267550.2(TTN):c.77610del (p.Thr25871fs) rs1706840484
NM_001267550.2(TTN):c.80262C>G (p.Tyr26754Ter)
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) rs780512337
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) rs1060500562
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81521del (p.Pro27174fs) rs1553577362
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs) rs727504660
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) rs727503557
NM_001267550.2(TTN):c.81988C>T (p.Gln27330Ter)
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter) rs727505288
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83407del (p.Val27803fs) rs727504782
NM_001267550.2(TTN):c.83603del (p.Gly27868fs) rs727505014
NM_001267550.2(TTN):c.83843del (p.Arg27948fs) rs1703956616
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.86379_86382del (p.Asp28794fs)
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter) rs868494032
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.87516del (p.Tyr29173fs) rs727503552
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter) rs1575584918
NM_001267550.2(TTN):c.8780_8781insAT (p.Phe2927fs) rs2091199299
NM_001267550.2(TTN):c.89197_89197+2del rs397517741
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.90040G>T (p.Gly30014Ter)
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer) rs727505076
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs) rs1699247877
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91528_91529del (p.Gln30510fs)
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) rs730880365
NM_001267550.2(TTN):c.92284A>T (p.Lys30762Ter)
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter) rs2154145603
NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter) rs876657671
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) rs727504550
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99866-1G>A rs876657672
NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg) rs727504255
NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu) rs397516454
NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu) rs397516454
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.316_318del (p.Glu106del) rs727504277
NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr) rs876658027
NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) rs397516461
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) rs376923877
NM_001276345.2(TNNT2):c.851+1G>T rs111377893
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) rs730881116
NM_001277115.2(DNAH11):c.1930C>T (p.Arg644Ter)
NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del
NM_001278716.2(FBXL4):c.1012G>T (p.Glu338Ter) rs1582402094
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001291303.3(FAT4):c.6700C>T (p.Arg2234Ter) rs567305960
NM_001291415.2(KDM6A):c.385-6049_385-6047del
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs) rs778222536
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.3187C>T (p.Arg1063Ter)
NM_001292063.2(OTOG):c.3718A>T (p.Lys1240Ter)
NM_001292063.2(OTOG):c.457_466del (p.Gly153fs)
NM_001292063.2(OTOG):c.4768del (p.Arg1590fs)
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter) rs2134091591
NM_001292063.2(OTOG):c.5616dup (p.Ala1873fs)
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.7072+1G>A
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7585+2T>C rs1401870617
NM_001292063.2(OTOG):c.7633C>T (p.Gln2545Ter)
NM_001329943.3(KIAA0586):c.2854_2855insG (p.Ile952fs)
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) rs1555985649
NM_001348323.3(TRIP12):c.3624+1G>A
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)
NM_001363711.2(DUOX2):c.3416-1G>A rs2141143881
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
NM_001365276.2(TNXB):c.9668del (p.Gly3223fs)
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) rs200070962
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del) rs727502975
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001370259.2(MEN1):c.1270dup (p.Glu424fs)
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter) rs1794042593
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs) rs767206815
NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs) rs2103771766
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs)
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter) rs1270472063
NM_001378609.3(OTOGL):c.119+1G>A
NM_001378609.3(OTOGL):c.1567C>T (p.Gln523Ter)
NM_001378609.3(OTOGL):c.2365_2372del (p.Glu788_Asp789insTer)
NM_001378609.3(OTOGL):c.3168G>A (p.Trp1056Ter) rs2137737853
NM_001378609.3(OTOGL):c.3521_3524del (p.Glu1174fs)
NM_001378609.3(OTOGL):c.4199+1G>A
NM_001378609.3(OTOGL):c.4483_4484del (p.Gln1495fs)
NM_001378609.3(OTOGL):c.4741C>T (p.Gln1581Ter)
NM_001378609.3(OTOGL):c.5020_5024del (p.Asn1674fs) rs1592726662
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658
NM_001379180.1(ESRRB):c.1011dup (p.Leu338fs) rs1555344820
NM_001379180.1(ESRRB):c.1088_1089del (p.Val363fs) rs876657643
NM_001379180.1(ESRRB):c.1224G>A (p.Trp408Ter) rs727503041
NM_001379180.1(ESRRB):c.1268_1272del (p.Thr423fs) rs727504577
NM_001379180.1(ESRRB):c.808C>T (p.Arg270Ter) rs202023138
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379500.1(COL18A1):c.1335_1336dup (p.Gly446fs) rs2145934671
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.2244+2T>G rs1555681351
NM_001384474.1(LOXHD1):c.4045G>T (p.Glu1349Ter) rs2144321916
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs) rs2150435584
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter) rs762334514
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.164T>A (p.Leu55Gln) rs397516657
NM_001399.5(EDA):c.477A>T (p.Arg159Ser) rs876657640
NM_001399.5(EDA):c.526+5G>T rs397516664
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.822G>T (p.Trp274Cys) rs397516675
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) rs397516681
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) rs876657642
NM_001609.4(ACADSB):c.68dup (p.Leu23fs)
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp) rs113262912
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001673.5(ASNS):c.1137+200_1137+205del
NM_001673.5(ASNS):c.706del (p.Arg236fs) rs1791584683
NM_001735.3(C5):c.4336del (p.Val1446fs) rs1554718962
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) rs1732900321
NM_001844.5(COL2A1):c.1681-2_1681-1del rs1592217071
NM_001851.6(COL9A1):c.1029del (p.Gly344fs)
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1396C>T (p.Gln466Ter)
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.5(DSG2):c.1433dup (p.Thr480fs)
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.390C>A (p.Tyr130Ter) rs369489095
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter) rs397516712
NM_002103.5(GYS1):c.989_992del (p.Gly330fs)
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs) rs1594427410
NM_002230.4(JUP):c.1408G>T (p.Glu470Ter)
NM_002230.4(JUP):c.1827_1828del (p.Cys609_Glu610delinsTer)
NM_002291.3(LAMB1):c.1000+1G>T
NM_002292.4(LAMB2):c.3109+1G>T rs888830612
NM_002292.4(LAMB2):c.3937C>T (p.Gln1313Ter) rs2045374191
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.3(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.191del (p.Val64fs) rs397516738
NM_002294.3(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.865-1G>C rs397516752
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.929-1G>A rs727504262
NM_002294.3(LAMP2):c.999del (p.Glu334fs) rs727504557
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002700.3(POU4F3):c.384_387dup (p.Ser130fs) rs1581278366
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
NM_002857.4(PEX19):c.606del (p.Trp202fs)
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.4(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002906.4(RDX):c.1180C>T (p.Arg394Ter)
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs) rs1553177688
NM_003000.3(SDHB):c.541-1G>T rs1570945961
NM_003000.3(SDHB):c.575G>C (p.Cys192Ser) rs397516835
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.3(SDHB):c.73-2A>T rs1474282888
NM_003000.3(SDHB):c.81del (p.Gly28fs)
NM_003001.5(SDHC):c.21-3_22del rs1553261757
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.995G>A (p.Trp332Ter)
NM_003239.5(TGFB3):c.884del (p.Gly295fs)
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) rs397516840
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) rs727503472
NM_003319.4(TTN):c.12525dup (p.Asn4176Ter) rs876657673
NM_003319.4(TTN):c.22101_22120del (p.Val7368fs) rs727504825
NM_003319.4(TTN):c.45637dup (p.Thr15213fs) rs876657669
NM_003319.4(TTN):c.50226dup (p.Ser16743fs) rs730880343
NM_003319.4(TTN):c.63583dup (p.Tyr21195fs) rs397517750
NM_003319.4(TTN):c.80003_80028+4del rs1553479603
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_003373.4(VCL):c.659dup (p.Asn220fs) rs397517245
NM_003491.4(NAA10):c.47A>C (p.His16Pro) rs2065185202
NM_003560.4(PLA2G6):c.610-1G>T rs1223788672
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)
NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs) rs2105675391
NM_003998.4(NFKB1):c.1753-1G>C
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) rs72474224
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp) rs104894404
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004035.7(ACOX1):c.1851del (p.Gly618fs) rs797045080
NM_004086.3(COCH):c.260G>C (p.Gly87Ala) rs1555310861
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs) rs746519257
NM_004100.5(EYA4):c.371-2A>C rs876657644
NM_004100.5(EYA4):c.456_459del (p.Ser153fs) rs1583345314
NM_004168.4(SDHA):c.1631_1647del (p.Gly544fs)
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004239.4(TRIP11):c.4834_4837del (p.Lys1612fs) rs1274744069
NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter) rs377589237
NM_004273.5(CHST3):c.195del (p.Asp66fs)
NM_004281.4(BAG3):c.100_107del (p.Thr34fs) rs727505283
NM_004281.4(BAG3):c.1067del (p.Pro356fs) rs727505109
NM_004281.4(BAG3):c.72del (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004320.6(ATP2A1):c.2744+1G>A rs111266804
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg) rs121913353
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln) rs180177038
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1798G>A (p.Val600Met) rs121913378
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu) rs397516897
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004387.4(NKX2-5):c.335-3C>G rs876657934
NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del
NM_004407.4(DMP1):c.979C>T (p.Gln327Ter) rs899142959
NM_004415.4(DSP):c.1141-2A>T rs794728111
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter) rs727504498
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter) rs397516919
NM_004415.4(DSP):c.1751del (p.Glu584fs) rs727505077
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.208_209dup (p.Ile71fs) rs727502993
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.226C>T (p.Gln76Ter) rs1554105614
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.273del (p.Glu92fs) rs794728136
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2920del (p.Thr974fs) rs727505260
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro) rs397516929
NM_004415.4(DSP):c.3110dup (p.Leu1037fs)
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3434del (p.Ala1145fs) rs1581815603
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter) rs148894066
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3789_3805del (p.Thr1264fs)
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4397dup (p.Gln1467fs) rs1581817513
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs) rs727504738
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
NM_004415.4(DSP):c.534_535insA (p.Gly179fs) rs397516945
NM_004415.4(DSP):c.5378_5379dup (p.Ala1794fs) rs727502994
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) rs397516975
NM_004448.4(ERBB2):c.2314_2325dup (p.Tyr772_Ala775dup) rs397516977
NM_004448.4(ERBB2):c.2320del (p.Met774fs) rs397516978
NM_004448.4(ERBB2):c.2324_2325insCTCCGTGATGGC (p.Ala775_Gly776insSerValMetAla) rs397516976
NM_004448.4(ERBB2):c.2325_2326insTCCGTGATGGCT (p.Ala775_Gly776insSerValMetAla) rs1555618025
NM_004448.4(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) rs397516979
NM_004448.4(ERBB2):c.2326_2327insTTT (p.Gly776delinsValCys) rs397516979
NM_004448.4(ERBB2):c.2326delinsTTAT (p.Gly776delinsLeuCys) rs397516980
NM_004448.4(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup) rs397516982
NM_004452.3(ESRRB):c.(?_1)_(1527_?)del
NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?)
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004568.6(SERPINB6):c.679G>T (p.Glu227Ter) rs1201327476
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004629.2(FANCG):c.1771_1772del (p.Leu591fs)
NM_004700.4(KCNQ4):c.1667_1671dup (p.Val558fs) rs1553168601
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_004985.5(KRAS):c.290G>A (p.Arg97Lys) rs727503106
NM_004985.5(KRAS):c.39C>A (p.Gly13=) rs397517040
NM_004985.5(KRAS):c.39C>T (p.Gly13=) rs397517040
NM_004985.5(KRAS):c.454G>T (p.Val152Phe) rs397517041
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.5(KRAS):c.466T>G (p.Phe156Val) rs397517042
NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp) rs727504548
NM_004999.4(MYO6):c.2111dup (p.Tyr705fs) rs397517045
NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs) rs1583208411
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter) rs876657653
NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs) rs727505015
NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr) rs1554205683
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_004999.4(MYO6):c.78del (p.Asp27fs) rs1771411002
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) rs28929495
NM_005228.5(EGFR):c.2232_2249delinsAAA (p.Glu746_Ala750del) rs397517094
NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer) rs397517098
NM_005228.5(EGFR):c.2284-5_2290dup rs397517106
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) rs397517109
NM_005228.5(EGFR):c.2315_2320dup (p.His773_Val774insAlaHis) rs397517114
NM_005228.5(EGFR):c.2317_2322dup (p.His773_Val774dup) rs397517116
NM_005228.5(EGFR):c.2320_2321insGCCACG (p.His773_Val774insGlyHis) rs1554350366
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) rs727504747
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) rs727503094
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005359.6(SMAD4):c.424+1G>A rs377767386
NM_005422.4(TECTA):c.1060C>T (p.Gln354Ter)
NM_005422.4(TECTA):c.12dup (p.Ser5fs)
NM_005422.4(TECTA):c.5235del (p.Ile1746fs) rs1229070290
NM_005422.4(TECTA):c.5662A>G (p.Arg1888Gly) rs1591464171
NM_005422.4(TECTA):c.5692T>C (p.Cys1898Arg) rs1591464207
NM_005422.4(TECTA):c.5719del (p.Ser1907fs)
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005445.4(SMC3):c.283G>A (p.Glu95Lys) rs869312672
NM_005535.3(IL12RB1):c.-17_-16dup
NM_005559.4(LAMA1):c.8062_8068dup (p.Leu2690fs) rs1555643185
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005787.6(ALG3):c.921C>A (p.Cys307Ter)
NM_005902.4(SMAD3):c.206+1G>C rs770098673
NM_005902.4(SMAD3):c.770_771del (p.Val257fs)
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.871+2T>C rs863223761
NM_005902.4(SMAD3):c.946C>T (p.Gln316Ter) rs1595960447
NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) rs121913566
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.706del (p.Arg236fs)
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005912.3(MC4R):c.906T>G (p.Tyr302Ter)
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter) rs866158774
NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) rs876657675
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006073.4(TRDN):c.1063del (p.Ala355fs)
NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs) rs1582923790
NM_006073.4(TRDN):c.423del (p.Glu142fs) rs757805966
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006218.4(PIK3CA):c.1359_1373del (p.Glu453_Pro458delinsAsp) rs397517200
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006231.4(POLE):c.62+1G>A
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006421.5(ARFGEF1):c.1203+1G>T
NM_006701.5(TXNL4A):c.88_110del (p.Phe30fs) rs1555719172
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006941.4(SOX10):c.401T>C (p.Leu134Pro) rs876657660
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_007294.4(BRCA1):c.1356del (p.Glu453fs) rs80357939
NM_007294.4(BRCA1):c.142A>G (p.Met48Val) rs879255477
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2263del (p.Glu755fs) rs80357960
NM_007294.4(BRCA1):c.2626G>T (p.Gly876Ter)
NM_007294.4(BRCA1):c.2748del (p.Asn916fs) rs398122667
NM_007294.4(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.4(BRCA1):c.301+1G>C rs587782173
NM_007294.4(BRCA1):c.4285dup (p.Tyr1429fs) rs1555584118
NM_007294.4(BRCA1):c.4399del (p.Gln1467fs)
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.664A>T (p.Lys222Ter)
NM_007294.4(BRCA1):c.701_702del (p.Thr234fs)
NM_007348.4(ATF6):c.484+1G>T rs764142241
NM_012208.4(HARS2):c.1439G>A (p.Arg480His) rs200089613
NM_012281.3(KCND2):c.1207C>G (p.Pro403Ala) rs1792826036
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013296.5(GPSM2):c.459_460del (p.Ala154fs) rs727505300
NM_013328.4(PYCR2):c.402_403del (p.Tyr135fs) rs1671854739
NM_013995.2(LAMP2):c.217dup (p.Thr73fs) rs397516739
NM_014000.3(VCL):c.1544-2A>G rs727503738
NM_014000.3(VCL):c.1762C>T (p.Gln588Ter) rs727504381
NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter) rs1571946866
NM_014339.7(IL17RA):c.599-1G>A
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014363.6(SACS):c.11100dup (p.Trp3701fs) rs1883571351
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
NM_014425.5(INVS):c.615+1G>A rs955421639
NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter) rs1580193741
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs) rs1647148516
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015335.5(MED13L):c.2844del (p.Met949fs)
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter) rs2123267182
NM_015340.3(LARS2):c.(?_2533)-70_*(70_?)del
NM_015512.5(DNAH1):c.2951del (p.Lys984fs) rs753307279
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter) rs1668654133
NM_016042.4(EXOSC3):c.112G>T (p.Glu38Ter)
NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr) rs727504392
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) rs28938173
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) rs267606978
NM_016203.4(PRKAG2):c.967T>A (p.Phe323Ile) rs397517283
NM_016239.4(MYO15A):c.2570del (p.Pro857fs)
NM_016239.4(MYO15A):c.2704del (p.Ala902fs)
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs) rs1162296750
NM_016239.4(MYO15A):c.3795C>A (p.Tyr1265Ter) rs1597768378
NM_016239.4(MYO15A):c.5891_5900del (p.Ser1964fs)
NM_016239.4(MYO15A):c.6479del (p.Pro2160fs)
NM_016239.4(MYO15A):c.6491dup (p.Asn2165fs)
NM_016239.4(MYO15A):c.6788G>A (p.Gly2263Asp) rs397517285
NM_016239.4(MYO15A):c.750_753del (p.Leu251fs)
NM_016239.4(MYO15A):c.9942C>A (p.Tyr3314Ter)
NM_016239.4(MYO15A):c.997G>T (p.Glu333Ter)
NM_016333.4(SRRM2):c.4537del (p.Gln1513fs)
NM_016580.4(PCDH12):c.954C>A (p.Tyr318Ter)
NM_016938.5(EFEMP2):c.1009C>T (p.Arg337Ter)
NM_017433.5(MYO3A):c.192del (p.Glu65fs)
NM_017433.5(MYO3A):c.2263-2A>C rs1554833178
NM_017433.5(MYO3A):c.2421dup (p.Phe808fs)
NM_017433.5(MYO3A):c.4335dup (p.Leu1446fs)
NM_017433.5(MYO3A):c.4545+1G>C rs876657652
NM_017534.6(MYH2):c.3002del (p.Glu1001fs) rs797045096
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017613.4(DONSON):c.938del (p.Gly313fs)
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) rs1804154342
NM_017791.3(FLVCR2):c.391dup (p.Met131fs) rs1594785775
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017849.4(TMEM127):c.308del (p.Gly103fs) rs727503490
NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter) rs776034810
NM_018139.3(DNAAF2):c.1555del (p.Glu519fs) rs1555327917
NM_018139.3(DNAAF2):c.727G>T (p.Glu243Ter) rs727504815
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018418.5(SPATA7):c.94+2T>C rs786204787
NM_018451.5(CPAP):c.898_899del (p.Glu300fs) rs797045454
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_020247.5(COQ8A):c.280_284del (p.Ser95fs) rs1658479678
NM_020547.3(AMHR2):c.43del (p.Val15fs) rs2136938115
NM_020778.5(ALPK3):c.2645_2670del (p.Gly882fs) rs1963877824
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs) rs745688425
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter) rs200889953
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs) rs1450218521
NM_020821.3(VPS13C):c.1119G>A (p.Trp373Ter) rs2046893100
NM_020821.3(VPS13C):c.2408+1G>A
NM_020821.3(VPS13C):c.3331G>T (p.Gly1111Ter)
NM_020821.3(VPS13C):c.3908+2T>C
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) rs369100678
NM_020821.3(VPS13C):c.5462T>A (p.Leu1821Ter)
NM_020821.3(VPS13C):c.5698C>T (p.Gln1900Ter)
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs) rs771717941
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys) rs876657636
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.6412del (p.Glu2138fs) rs111033473
NM_022124.6(CDH23):c.7921G>C (p.Asp2641His) rs397517354
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala) rs2112463755
NM_022437.3(ABCG8):c.965-1G>A rs957176669
NM_022552.5(DNMT3A):c.2580G>A (p.Trp860Ter)
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_023036.6(DNAI2):c.1672_1673del (p.Ala558fs) rs1598348312
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024422.6(DSC2):c.154+1G>A rs397517393
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter) rs929474806
NM_024675.4(PALB2):c.2479del (p.Thr827fs) rs1597088811
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter) rs770996884
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.820dup (p.Thr274fs) rs1555461611
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024721.5(ZFHX4):c.3965-1G>A rs1812496169
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024996.7(GFM1):c.54del (p.Ala19fs) rs765266988
NM_030632.3(ASXL3):c.3457G>T (p.Glu1153Ter)
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer) rs876657637
NM_031475.3(ESPN):c.244dup (p.His82fs)
NM_031475.3(ESPN):c.677del (p.Val226fs)
NM_031844.3(HNRNPU):c.1142dup (p.Tyr381Ter)
NM_031956.4(TTC29):c.217_221del (p.Leu73fs)
NM_032043.3(BRIP1):c.2258-2A>G
NM_032043.3(BRIP1):c.2339_2340del (p.Ile780fs)
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter) rs2144384208
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs) rs771028677
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup) rs397517418
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_032520.5(GNPTG):c.178+1G>A rs1596603769
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) rs1060499690
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.2736dup (p.Pro913fs) rs1587159769
NM_032861.4(SERAC1):c.21C>A (p.Cys7Ter) rs139301835
NM_033124.5(DRC2):c.877_878del (p.Ile293fs) rs863223325
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) rs1825188183
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_053274.3(GLMN):c.1355del (p.Leu452fs) rs773435694
NM_053274.3(GLMN):c.554_558delinsG (p.Lys185fs) rs1570964992
NM_054012.4(ASS1):c.1128-1del
NM_057175.5(NAA15):c.897del (p.Leu301fs)
NM_080424.4(SP110):c.877A>T (p.Lys293Ter) rs199845488
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3116G>T (p.Gly1039Val) rs1554216943
NM_080680.3(COL11A2):c.4943A>T (p.His1648Leu) rs1487325262
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter) rs727503394
NM_130810.4(DNAAF4):c.523del (p.Ile175fs) rs751610886
NM_133261.3(GIPC3):c.85del (p.Ala29fs)
NM_138295.5(PKD1L1):c.7825C>T (p.Gln2609Ter)
NM_138691.3(TMC1):c.741+1G>A rs1588067173
NM_139027.6(ADAMTS13):c.415-1G>A rs1554785114
NM_144666.3(DNHD1):c.11207-9_11207del
NM_144666.3(DNHD1):c.1855del (p.Asp619fs)
NM_144672.4(OTOA):c.806C>A (p.Ser269Ter)
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.446del (p.Gly149fs) rs727504645
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro) rs876657646
NM_145064.3(STAC3):c.88_91del (p.Leu30fs)
NM_145309.6(LRRC51):c.83-1_83del
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147196.3(TMIE):c.211+3G>C rs397517865
NM_147196.3(TMIE):c.251G>T (p.Arg84Leu) rs397517866
NM_152296.5(ATP1A3):c.2330T>A (p.Ile777Asn) rs1599706522
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) rs1894017295
NM_153240.5(NPHP3):c.1157del (p.Asn386fs)
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4702-2A>C
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala) rs1336307815
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) rs397517886
NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu) rs876657649
NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del) rs397517887
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) rs397517888
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer) rs267607577
NM_170707.4(LMNA):c.1526dup (p.Thr510fs) rs58013325
NM_170707.4(LMNA):c.154C>G (p.Leu52Val) rs397517895
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser) rs56984562
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.4(LMNA):c.476del (p.Glu159fs) rs876657650
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) rs267607594
NM_170707.4(LMNA):c.513+1G>C rs397517904
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer) rs1572358821
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly) rs121912496
NM_170707.4(LMNA):c.763del (p.Gln255fs) rs397517908
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) rs397517909
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) rs397517911
NM_173628.4(DNAH17):c.7020dup (p.Asp2341fs)
NM_174916.3(UBR1):c.2840-1G>A
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_176787.5(PIGN):c.674+1G>A rs1555694770
NM_177438.3(DICER1):c.4102dup (p.Arg1368fs) rs1890722878
NM_177924.5(ASAH1):c.648+1G>C rs1411267767
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181882.3(PRX):c.2289del (p.Asp765fs) rs797045102
NM_182548.4(LHFPL5):c.89dup (p.Thr31fs) rs756030149
NM_182758.4(WDR72):c.2019dup (p.Trp674fs)
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182931.3(KMT2E):c.544dup (p.Glu182fs)
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs) rs111033370
NM_194248.3(OTOF):c.4228-1G>A rs111033342
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5575_5576del (p.Lys1859fs) rs111033446
NM_194248.3(OTOF):c.5925del (p.Leu1976fs) rs111033384
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194248.3(OTOF):c.839del (p.Gly280fs) rs1665944825
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359
NM_198239.2(CCN6):c.740_741del (p.Cys247fs) rs727503755
NM_198253.2(TERT):c.(?_1574)_(1769_?)del
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs) rs1570190059
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201548.5(CERKL):c.1177C>T (p.Gln393Ter)
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.9335_9371+8063del
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.11231+1G>T rs111033382
NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys) rs397517979
NM_206933.4(USH2A):c.12294+1G>C rs111033526
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206937.2(LIG4):c.879_883del (p.Asn294fs) rs751070095
NM_207352.4(CYP4V2):c.47G>A (p.Trp16Ter)
NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs) rs746484929
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) rs752032044
NM_207421.4(PADI6):c.721C>T (p.Gln241Ter)
NM_213607.3(DNAAF19):c.223_226dup (p.His76fs) rs1597843267
Single allele

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