ClinVar Miner

List of variants reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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ClinVar version:
Total variants: 1455
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000787.4(DBH):c.339+2T>C rs74853476 0.00106
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys) rs78950939 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter) rs121908002 0.00035
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00029
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_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_139279.6(MCFD2):c.249del (p.Asp83fs) rs1294221028 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys) rs374514431 0.00012
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_005559.4(LAMA1):c.858+1G>T rs141914419 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00011
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln) rs782357172 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_024666.5(AAGAB):c.1A>G (p.Met1Val) rs539301011 0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter) rs933245871 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_001015880.2(PAPSS2):c.121C>T (p.Arg41Ter) rs201203612 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001369.3(DNAH5):c.1089+1G>A rs574586008 0.00006
NM_001928.4(CFD):c.125C>A (p.Ser42Ter) rs104894667 0.00006
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_172240.3(POC1B):c.810+1G>T rs587777694 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_024666.5(AAGAB):c.370C>T (p.Arg124Ter) rs200564757 0.00005
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter) rs369742878 0.00004
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173 0.00004
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter) rs201845656 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_031433.4(MFRP):c.201G>A (p.Trp67Ter) rs150232843 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter) rs1476453955 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000085.5(CLCNKB):c.968+1G>A rs201204502 0.00003
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000298.6(PKLR):c.401T>A (p.Val134Asp) rs574051756 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs) rs767295178 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) rs368513591 0.00003
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) rs121909625 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter) rs746618021 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_201631.4(TGM5):c.104G>A (p.Arg35Gln) rs749224503 0.00003
NM_205850.3(SLC24A5):c.184C>T (p.Gln62Ter) rs147601285 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000085.5(CLCNKB):c.782-2A>G rs779908241 0.00002
NM_000094.4(COL7A1):c.8065G>A (p.Gly2689Arg) rs748940147 0.00002
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) rs140000324 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) rs387907268 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter) rs1223863177 0.00002
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_002878.4(RAD51D):c.576+1G>A rs781161543 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042 0.00002
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter) rs121908165 0.00002
NM_015046.7(SETX):c.6106G>A (p.Gly2036Arg) rs863224919 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153700.2(STRC):c.3601C>T (p.Gln1201Ter) rs1286912998 0.00002
NM_153700.2(STRC):c.3794+1G>A rs777192662 0.00002
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) rs387906802 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter) rs765027608 0.00001
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851 0.00001
NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp) rs369591910 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000144.5(FXN):c.3G>T (p.Met1Ile) rs104894108 0.00001
NM_000146.4(FTL):c.-168G>A rs398124635 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000215.4(JAK3):c.3208-1G>A rs1160856608 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000256.3(MYBPC3):c.1458-1G>C rs397515903 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter) rs548381313 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000283.4(PDE6B):c.837del (p.Asp279fs) rs746141070 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter) rs61752434 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter) rs1486464304 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) rs1189889920 0.00001
NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs) rs756434927 0.00001
NM_001042472.3(ABHD12):c.1075del (p.Val359fs) rs757670984 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066 0.00001
NM_001163435.3(TBCK):c.1635G>A (p.Trp545Ter) rs759892467 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001198800.3(ASCC1):c.626+1G>A rs747595523 0.00001
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter) rs976363536 0.00001
NM_001267550.2(TTN):c.68484del (p.Lys22828fs) rs1370805955 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001271862.2(PNLDC1):c.1387C>T (p.Arg463Ter) rs200629089 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter) rs762773298 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001374504.1(TMPRSS6):c.470del (p.Leu157fs) rs536767538 0.00001
NM_001377.3(DYNC2H1):c.9817C>T (p.Gln3273Ter) rs1322871899 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter) rs761213221 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001386393.1(PANK2):c.987del (p.Arg330fs) rs544616523 0.00001
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter) rs1359321518 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002637.4(PHKA1):c.2806C>T (p.Arg936Ter) rs2052711601 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002890.3(RASA1):c.261_262del (p.Gly89fs) rs1384480619 0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003193.5(TBCE):c.101-1G>C rs1188106799 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003280.3(TNNC1):c.317+1G>A rs111972756 0.00001
NM_003283.6(TNNT1):c.309+1G>A rs149559898 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) rs794727794 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005559.4(LAMA1):c.3099G>A (p.Trp1033Ter) rs769655038 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter) rs761152494 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) rs80357437 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012144.4(DNAI1):c.1490-2A>G rs775831317 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter) rs398122826 0.00001
NM_016239.4(MYO15A):c.10082+1G>A rs772568482 0.00001
NM_016239.4(MYO15A):c.7893+1G>A rs727503316 0.00001
NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter) rs267606876 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016247.4(IMPG2):c.379C>T (p.Arg127Ter) rs759184240 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_017534.6(MYH2):c.1920del (p.Gly642fs) rs1230553094 0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) rs1443735811 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_020247.5(COQ8A):c.1702G>T (p.Glu568Ter) rs376478331 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020435.4(GJC2):c.718C>T (p.Arg240Ter) rs74315313 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_021095.4(SLC5A6):c.1005+1G>A rs565711489 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_022124.6(CDH23):c.3428dup (p.His1143fs) rs1253419936 0.00001
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) rs202099742 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter) rs121434508 0.00001
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_172250.3(MMAA):c.733+1G>A rs779939886 0.00001
NM_178452.6(DNAAF1):c.1528+2T>C rs569633512 0.00001
NM_181507.2(HPS5):c.1960A>T (p.Lys654Ter) rs1179872960 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter) rs766657895 0.00001
NC_012920.1(MT-CYB):m.591C>T rs2124590812
NM_000021.4(PSEN1):c.1151G>C (p.Gly384Ala) rs63750646
NM_000038.6(APC):c.1600A>T (p.Lys534Ter) rs1580569295
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2995C>T (p.Gln999Ter) rs75239284
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3880C>T (p.Gln1294Ter) rs1554085373
NM_000038.6(APC):c.4135G>T (p.Glu1379Ter) rs121913326
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.471G>A (p.Trp157Ter) rs1060503328
NM_000038.6(APC):c.646-1G>A rs78847145
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000044.6(AR):c.1822C>T (p.Arg608Ter) rs886041128
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) rs1554079320
NM_000051.4(ATM):c.1120del (p.Gln374fs) rs2135292079
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5570C>A (p.Ser1857Ter) rs2135944016
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000054.7(AVPR2):c.910+1G>A rs2148515040
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter) rs397507571
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter) rs201523522
NM_000059.4(BRCA2):c.1899_1900insTT (p.Ala634fs) rs397507613
NM_000059.4(BRCA2):c.3283C>T (p.Gln1095Ter) rs397507662
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.5071A>T (p.Lys1691Ter) rs886038116
NM_000059.4(BRCA2):c.516+1G>T rs397507762
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.537dup (p.Ile180fs) rs1566219199
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter) rs80358815
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter) rs397507867
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007+2T>C rs886040937
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7617+1G>T rs397507922
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7618-2A>G rs886040940
NM_000059.4(BRCA2):c.7806-1G>T rs81002860
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter) rs397507941
NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter) rs80359025
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8035G>T (p.Asp2679Tyr) rs80359040
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8178T>A (p.Tyr2726Ter) rs761595544
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter) rs80359134
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.926C>A (p.Ser309Ter) rs886038059
NM_000059.4(BRCA2):c.9649-1G>T rs1555289898
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg) rs864622263
NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del
NM_000088.4(COL1A1):c.1A>G (p.Met1Val) rs1555575889
NM_000092.5(COL4A4):c.2833G>T (p.Gly945Ter) rs1303057809
NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter) rs1262422383
NM_000094.4(COL7A1):c.4039G>C (p.Gly1347Arg) rs121912833
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) rs121912844
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000094.4(COL7A1):c.7875+1G>C rs2107637140
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.6754G>C (p.Asp2252His) rs2072683196
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.4943-2A>G rs2141267795
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) rs121918489
NM_000141.5(FGFR2):c.1019A>G (p.Tyr340Cys) rs1554928884
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) rs121918501
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1210G>T (p.Glu404Ter) rs797044974
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.157G>T (p.Glu53Ter) rs863224013
NM_000144.5(FXN):c.285T>A (p.Tyr95Ter) rs372775073
NM_000165.5(GJA1):c.605G>A (p.Arg202His) rs750294638
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.956T>C (p.Ile319Thr) rs2147471929
NM_000179.3(MSH6):c.1409C>G (p.Ser470Ter) rs2104341995
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg) rs199472774
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter) rs63751421
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.678-1G>A rs267607784
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter) rs63749827
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.791-1G>C rs267607795
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter) rs63750006
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter) rs63751693
NM_000251.3(MSH2):c.1386+1G>T rs267607957
NM_000251.3(MSH2):c.1511-2A>G rs267607962
NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter) rs63750780
NM_000251.3(MSH2):c.1759+3A>G rs863224630
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.212-2A>G rs267607917
NM_000251.3(MSH2):c.646-1G>C rs1114167888
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.3(MSH2):c.942+2T>G rs587779195
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) rs573916965
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.2149-2del rs1555121488
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2749del (p.Val917fs) rs2142853029
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2842_2843del (p.Asn948fs) rs2142852888
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.313del (p.Ala105fs) rs1565631424
NM_000256.3(MYBPC3):c.3257_3258dup (p.Lys1087fs) rs2142850930
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) rs786204329
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.5754C>G (p.Asn1918Lys) rs138110910
NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly) rs755706526
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000268.4(NF2):c.1122+1G>A rs1569304774
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.663C>G (p.Tyr221Ter) rs2146990737
NM_000273.3(GPR143):c.677del (p.Gly226fs) rs281865182
NM_000275.3(OCA2):c.163del (p.Ala55fs) rs1254334474
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) rs1845412705
NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg) rs2152697481
NM_000283.4(PDE6B):c.1041_1042dup (p.Val348fs) rs1560121685
NM_000283.4(PDE6B):c.1107+2dup rs1560122302
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.1923_1971delinsTCTGGGTA (p.Asn643fs) rs1560134806
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.583A>T (p.Lys195Ter) rs1212998897
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000312.4(PROC):c.1042C>T (p.Arg348Ter) rs121918141
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.635-2A>G rs1564566706
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu) rs61755799
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) rs397514449
NM_000335.5(SCN5A):c.934+1G>A rs1320531023
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000342.4(SLC4A1):c.37G>T (p.Glu13Ter) rs2144625139
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter) rs61750149
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs) rs118203494
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter) rs1559959758
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter) rs1064796377
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.5(STK11):c.921-12G>A rs2145430551
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) rs72551340
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) rs121909187
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000490.5(AVP):c.346T>G (p.Cys116Gly) rs74315383
NM_000490.5(AVP):c.55G>A (p.Ala19Thr) rs387906511
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter) rs79660178
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.949C>T (p.Arg317Ter) rs748290896
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) rs1816578250
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.2275+1G>A rs1554294393
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.84G>T (p.Gln28His) rs2108749184
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000834.5(GRIN2B):c.1848C>A (p.Asn616Lys) rs1949321461
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe) rs1587671674
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001008212.2(OPTN):c.1242+1G>A rs1206478143
NM_001009944.3(PKD1):c.11156+1G>T rs1596485727
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter) rs2151772321
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs) rs2092302256
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001031689.3(PLAA):c.861T>A (p.Val287=) rs1214280939
NM_001032221.6(STXBP1):c.579-2A>G rs112111568
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001034853.2(RPGR):c.1671del (p.Ala558fs) rs1569238659
NM_001034853.2(RPGR):c.1796dup (p.Asn599fs) rs2147200895
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2947G>T (p.Glu983Ter) rs1569235803
NM_001034853.2(RPGR):c.2993_2996del (p.Glu998fs) rs1569235677
NM_001034853.2(RPGR):c.3150_3151del (p.Glu1051fs) rs2147190794
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs) rs886041376
NM_001034853.2(RPGR):c.423del (p.Ile142fs) rs1569258901
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter) rs1085307500
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001042432.2(CLN3):c.379del (p.Arg127fs) rs386833717
NM_001042472.3(ABHD12):c.447G>A (p.Trp149Ter) rs1568725951
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1A>G (p.Met1Val) rs1060500252
NM_001042492.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter) rs1567849208
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter) rs786202177
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7950del (p.Val2653fs) rs2070298779
NM_001042492.3(NF1):c.818del (p.Leu273fs) rs2143786053
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr) rs104895227
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter) rs2045177486
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val) rs1568303352
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001110556.2(FLNA):c.5159dup (p.Tyr1720Ter) rs2148107418
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001126108.2(SLC12A3):c.1335+1G>A rs757471117
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) rs151340621
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001142800.1(EYS):c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.1(EYS):c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.1(EYS):c.(3243+1_3244-1)_(3443+1_3444-1)dup
NM_001142800.1(EYS):c.(6424+1_6425-1)_(6571+1_6572-1)del
NM_001142800.1(EYS):c.(748+1_749-1)_(1299+1_1300-1)del
NM_001142800.1(EYS):c.[3906C>A;9405T>A]
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter) rs749410700
NM_001142800.2(EYS):c.1161del (p.Lys387fs) rs1562154478
NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter) rs1562109990
NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter) rs992863438
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) rs2149856749
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.454dup (p.Met152fs) rs1766191833
NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs) rs1562079314
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001145026.2(PTPRQ):c.1560del (p.Gln519_Tyr520insTer) rs2120650961
NM_001145358.2(SIN3A):c.3303C>G (p.Tyr1101Ter) rs778623853
NM_001164508.2(NEB):c.1266T>A (p.Tyr422Ter) rs2149360884
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter) rs587783590
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001199107.2(TBC1D24):c.535dup (p.Ser179fs) rs2141871936
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) rs121908150
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) rs121908153
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter) rs762612591
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter) rs376188859
NM_001267550.2(TTN):c.53918del (p.Gly17973fs) rs1486129583
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.63793+1G>A rs2154182296
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter) rs748619096
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs) rs2154160971
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter) rs200503016
NM_001267550.2(TTN):c.9381C>A (p.Tyr3127Ter) rs2154341420
NM_001271862.2(PNLDC1):c.283C>T (p.Pro95Ser) rs2115028353
NM_001271862.2(PNLDC1):c.640-2A>T rs763048743
NM_001271862.2(PNLDC1):c.[136dup;809T>C]
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001278293.3(ARL6):c.185+1G>A rs1559679965
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.1310_1312delinsAG (p.Val437fs) rs1558820471
NM_001303052.2(MYT1L):c.2642+1G>A rs869320675
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001354768.3(NRL):c.104dup (p.Thr36fs) rs1566561006
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363118.2(SLC52A2):c.149dup (p.Tyr50Ter) rs782095095
NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter) rs748223125
NM_001369268.1(ACAN):c.1608C>A (p.Tyr536Ter) rs2141587301
NM_001369268.1(ACAN):c.5539G>T (p.Glu1847Ter) rs2141610121
NM_001371279.1(REEP1):c.301A>T (p.Lys101Ter) rs2104243903
NM_001371279.1(REEP1):c.417+1G>T rs2104223296
NM_001372044.2(SHANK3):c.4090C>T (p.Gln1364Ter) rs1038102194
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374828.1(ARID1B):c.2595dup (p.Thr866fs) rs2128585128
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001377.3(DYNC2H1):c.3459-1G>A rs1860730801
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs) rs2104063769
NM_001378454.1(ALMS1):c.10578del (p.Met3526fs) rs2104104304
NM_001378454.1(ALMS1):c.3197_3200del (p.Asp1066fs) rs2103777977
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001384140.1(PCDH15):c.2868+2T>C rs2091798175
NM_001384474.1(LOXHD1):c.3748+1G>C rs2144370278
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001429.4(EP300):c.1327_1328del (p.Leu443fs) rs2145715515
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) rs80356503
NM_001604.5(PAX6):c.(10+1_11-1)_(1311_?)del
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001692.4(ATP6V1B1):c.175-1G>C rs1572919267
NM_001734.5(C1S):c.1537G>T (p.Gly513Ter) rs2135729949
NM_001844.5(COL2A1):c.1030C>T (p.Arg344Ter) rs1565686896
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter) rs2136571484
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) rs1085307608
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.4075-1G>C rs2136506437
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001854.4(COL11A1):c.3816+1G>C rs398122828
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter) rs1369821061
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_002016.2(FLG):c.1378G>T (p.Glu460Ter) rs199756380
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002180.3(IGHMBP2):c.587A>G (p.Gln196Arg) rs1594422506
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del) rs1948868228
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002448.3(MSX1):c.605G>A (p.Arg202His) rs121913129
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile) rs121913619
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002576.5(PAK1):c.397T>C (p.Ser133Pro) rs2137081530
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) rs111033559
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) rs915349596
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003000.3(SDHB):c.200+1G>A rs2101541309
NM_003000.3(SDHB):c.490C>T (p.Gln164Ter) rs1553177679
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro) rs80338846
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003482.4(KMT2D):c.11740C>T (p.Gln3914Ter) rs2120437244
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003722.5(TP63):c.1027C>T (p.Arg343Trp) rs886041251
NM_003722.5(TP63):c.952C>T (p.Arg318Cys) rs1205536026
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) rs121908130
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004168.4(SDHA):c.64-2A>G rs762456298
NM_004177.5(STX3):c.739C>T (p.Arg247Ter) rs575668968
NM_004183.4(BEST1):c.16A>C (p.Thr6Pro) rs28940275
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn) rs28941469
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004360.5(CDH1):c.1320+1G>T rs886039685
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6210+1G>T rs398124126
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004727.3(SLC24A1):c.95T>A (p.Leu32Ter) rs1566945534
NM_004820.5(CYP7B1):c.321_324del (p.Lys107fs) rs770285398
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.194_195insGGCAATGAGGGACCAGTACAG (p.Tyr64_Ser65insArgAlaMetArgAspGlnTyr) rs2141509973
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.53C>T (p.Ala18Val) rs2135806030
NM_004999.4(MYO6):c.2761G>T (p.Glu921Ter) rs770092845
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005208.5(CRYBA1):c.607_608del (p.Gln203fs) rs1567671947
NM_005267.5(GJA8):c.227G>A (p.Arg76His) rs2149015516
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005378.6(MYCN):c.204_205del (p.Glu69fs) rs2103324191
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter) rs1480105908
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs) rs1563983151
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.631+2T>G rs543866098
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) rs1064796460
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) rs137853044
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) rs1560449207
NM_006017.3(PROM1):c.262dup (p.Ile88fs) rs1210104601
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) rs1563329888
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2335del (p.Ser779fs) rs1563330595
NM_006269.2(RP1):c.2732C>G (p.Ser911Ter) rs1348591614
NM_006269.2(RP1):c.368_369dup (p.Pro124fs) rs1246397238
NM_006269.2(RP1):c.3843del (p.Pro1282fs) rs769601671
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.67A>G (p.Lys23Glu) rs869312687
NM_006915.3(RP2):c.353G>A (p.Arg118His) rs28933687
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_006940.6(SOX5):c.1639C>T (p.Arg547Ter) rs1942475523
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) rs387906789
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter) rs878854909
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) rs80356935
NM_007294.4(BRCA1):c.1138C>T (p.Gln380Ter) rs397508840
NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter) rs273897655
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter) rs80357427
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.4(BRCA1):c.302-3C>G rs80358051
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) rs80356866
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4676-1G>C rs80358008
NM_007294.4(BRCA1):c.4699G>T (p.Gly1567Ter) rs568753972
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter) rs397507239
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter) rs80356947
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val) rs80357227
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter) rs80357367
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5332+1G>A rs80358041
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) rs80357212
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012330.4(KAT6B):c.4231G>T (p.Glu1411Ter) rs1416626270
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7806+1G>T rs2151675590
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_014208.3(DSPP):c.52-2A>G rs2109995326
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_014249.4(NR2E3):c.724_725del (p.Ser242fs) rs750740765
NM_014249.4(NR2E3):c.95G>A (p.Trp32Ter) rs2054172807
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter) rs1285760809
NM_014363.6(SACS):c.1925del (p.Gly642fs) rs2137717323
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs) rs1356107030
NM_015072.5(TTLL5):c.1487+1G>A rs1566585766
NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter) rs1568600184
NM_015629.4(PRPF31):c.178-1G>A rs2146393934
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_017739.4(POMGNT1):c.1429_1430del (p.Met477fs) rs1657829644
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.2238+1G>A rs1811957737
NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser) rs886041167
NM_017780.4(CHD7):c.4353+1G>A rs1804804514
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter) rs1320897198
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs) rs1557733597
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_017950.4(CCDC40):c.1855C>T (p.Gln619Ter) rs2143735173
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter) rs121918211
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) rs374268850
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) rs200244203
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.991-3T>G rs773372519
NM_020061.6(OPN1LW):c.891C>G (p.Tyr297Ter) rs782711582
NM_020070.4(IGLL1):c.157G>T (p.Gly53Ter) rs1256867431
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter) rs554396590
NM_020638.3(FGF23):c.287T>C (p.Met96Thr) rs104894343
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) rs377767397
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_021871.4(FGA):c.1001G>A (p.Trp334Ter) rs575433349
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024496.4(IRF2BPL):c.376C>T (p.Gln126Ter) rs1555377483
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) rs1856010874
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024757.5(EHMT1):c.2929C>T (p.Gln977Ter) rs2137711618
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) rs1429360126
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter) rs1226324483
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs) rs1599573656
NM_031433.4(MFRP):c.498del (p.Asn167fs) rs587776596
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.1629-1G>A rs1060501757
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032188.3(KAT8):c.296G>A (p.Arg99Gln) rs2143966454
NM_033100.4(CDHR1):c.523C>T (p.Gln175Ter) rs1486109432
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1525G>T (p.Gly509Cys) rs754223700
NM_053274.3(GLMN):c.1470_1473del (p.Asn490fs) rs778651218
NM_053274.3(GLMN):c.844_847del (p.Leu282fs) rs773060450
NM_057176.3(BSND):c.1A>T (p.Met1Leu) rs74315284
NM_058216.3(RAD51C):c.561_562del (p.His187fs) rs1057517812
NM_130837.3(OPA1):c.1948dup (p.Glu650fs) rs2109083754
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter) rs140256288
NM_138459.5(NUS1):c.25_26del (p.Trp9fs) rs2114674305
NM_138615.3(DHX30):c.1478G>A (p.Arg493His) rs1057519436
NM_139058.3(ARX):c.1151G>T (p.Arg384Leu) rs1064797362
NM_144997.7(FLCN):c.619-1G>A rs1131690840
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152384.3(BBS5):c.258+2T>C rs1559122157
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_153212.3(GJB4):c.35G>A (p.Gly12Asp) rs80358211
NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)del
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_170665.4(ATP2A2):c.392G>A (p.Arg131Gln) rs121912738
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_177965.4(CFAP418):c.155+2T>C rs1085307121
NM_181552.4(CUX1):c.2986C>T (p.Arg996Ter) rs2132065095
NM_182894.3(VSX2):c.609G>A (p.Trp203Ter) rs1566888340
NM_182961.4(SYNE1):c.24369G>A (p.Trp8123Ter) rs2152915773
NM_183065.4(TMEM107):c.*696A>G rs779456932
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198525.3(KIF7):c.3235C>T (p.Gln1079Ter) rs1963646325
NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter) rs62635655
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) rs1064792999
NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.[12394del;14074G>A]
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14289del (p.Ile4764fs) rs2102644832
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5728C>T (p.Gln1910Ter) rs2031617950
NM_206933.4(USH2A):c.6621C>A (p.Tyr2207Ter) rs771072859
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.4(USH2A):c.8723_8724del (p.Val2908fs) rs2102440742
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9739+2T>C rs2102792992
NM_206933.4(USH2A):c.9959-2A>G rs1661946523
NM_213655.5(WNK1):c.3238dup (p.Val1080fs) rs2154072041
m.4291T>C rs121434471
m.616T>C rs387906420

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