ClinVar Miner

Variants with conflicting interpretations "pathogenic" from OMIM and "likely pathogenic" from any submitter

Minimum review status of the submission from OMIM: Collection method of the submission from OMIM:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4163
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp) rs77587352 0.00850
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
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_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp) rs137852860 0.00490
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met) rs2870984 0.00314
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390 0.00310
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
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_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
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_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His) rs113418909 0.00236
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
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_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro) rs72650695 0.00189
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00188
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000040.3(APOC3):c.55+1G>A rs138326449 0.00153
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) rs72549326 0.00149
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_013391.3(DMGDH):c.326A>G (p.His109Arg) rs121908331 0.00147
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter) rs199752008 0.00136
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_006715.4(MAN2C1):c.601-2A>G rs147928844 0.00120
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) rs199671406 0.00096
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_022829.6(SLC13A3):c.1016+3A>G rs199961976 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter) rs104894704 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199 0.00053
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_018130.3(SHQ1):c.523G>T (p.Asp175Tyr) rs143636968 0.00051
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) rs104895503 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_006715.4(MAN2C1):c.2612G>C (p.Cys871Ser) rs143755898 0.00046
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu) rs553950608 0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) rs148890852 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_006715.4(MAN2C1):c.607G>A (p.Gly203Arg) rs190692217 0.00043
NM_015865.7(SLC14A1):c.342-1G>A rs78937798 0.00043
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_007113.4(TCHH):c.991C>T (p.Gln331Ter) rs201930497 0.00039
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) rs201201843 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 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_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 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_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 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_015836.4(WARS2):c.938A>T (p.Lys313Met) rs145867327 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_006576.4(AVIL):c.404G>A (p.Arg135Gln) rs138047529 0.00034
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_139281.3(WDR36):c.896A>G (p.Asn299Ser) rs118204022 0.00034
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys) rs201322234 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 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_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys) rs28931603 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 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_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NR_023343.3(RNU4ATAC):n.8C>T rs370715569 0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00022
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp) rs150832314 0.00022
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647 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_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001385.3(DPYS):c.1469G>A (p.Arg490His) rs189448963 0.00021
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_003085.5(SNCB):c.368C>A (p.Pro123His) rs104893937 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_030780.5(SLC25A32):c.440G>A (p.Arg147His) rs142329098 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) rs147226818 0.00020
NM_020401.4(NUP107):c.1064G>A (p.Arg355His) rs747135247 0.00020
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp) rs72549334 0.00019
NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter) rs137852862 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) rs137973334 0.00019
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00018
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_001326411.2(PISD):c.830G>A (p.Arg277Gln) rs147371584 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly) rs150726107 0.00017
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp) rs199583516 0.00016
NM_001286577.2(C2CD3):c.3911-2A>T rs149366137 0.00016
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00016
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) rs121913560 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr) rs200826424 0.00016
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys) rs755169246 0.00016
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) rs121434287 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) rs199730889 0.00013
NM_018116.4(MSTO1):c.706G>C (p.Asp236His) rs753488873 0.00013
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_000187.4(HGD):c.1112A>G (p.His371Arg) rs120074172 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter) rs200059198 0.00012
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_006345.4(SLC30A9):c.40del (p.Ser14fs) rs767078182 0.00012
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys) rs121908487 0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_020191.4(MRPS22):c.509G>A (p.Arg170His) rs119478059 0.00012
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00012
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met) rs764877688 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val) rs150539474 0.00011
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838 0.00011
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter) rs555126484 0.00011
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_020442.6(VARS2):c.2467-2A>G rs200075594 0.00011
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys) rs202073531 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_203395.3(IYD):c.658G>A (p.Ala220Thr) rs121918140 0.00011
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His) rs121434407 0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu) rs375761361 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys) rs540217942 0.00010
NM_004608.4(TBX6):c.434C>T (p.Pro145Leu) rs202193096 0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs) rs766372684 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs) rs774193816 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter) rs140352254 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly) rs387907098 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328 0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His) rs72558200 0.00009
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001102564.3(IFT43):c.100G>A (p.Glu34Lys) rs140366557 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys) rs141744337 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter) rs137853131 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_024854.5(PYROXD1):c.285+1G>A rs369083786 0.00009
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143 0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000274.4(OAT):c.539G>C (p.Arg180Thr) rs121965040 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00008
NM_000486.6(AQP2):c.439G>A (p.Ala147Thr) rs104894334 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253 0.00008
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 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_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg) rs267607057 0.00008
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter) rs143740376 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_024700.4(SNIP1):c.1097A>G (p.Glu366Gly) rs387906986 0.00008
NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg) rs104894702 0.00008
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197 0.00008
NC_000009.12:g.35658031_35658040dup rs1554651507 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys) rs113994035 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_001364171.2(ODAD1):c.1502+5G>A rs201133219 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314 0.00007
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln) rs1364709483 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_016035.5(COQ4):c.202G>C (p.Asp68His) rs758522459 0.00007
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn) rs573006534 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp) rs368572297 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val) rs104894552 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000193.4(SHH):c.676G>A (p.Ala226Thr) rs104894043 0.00006
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000270.4(PNP):c.701G>C (p.Arg234Pro) rs104894451 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) rs104893843 0.00006
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001080442.3(SLC38A8):c.697G>A (p.Glu233Lys) rs372929441 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) rs587776896 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) rs104893970 0.00006
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp) rs201947120 0.00006
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) rs119472028 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) rs758100382 0.00006
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) rs761989177 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) rs121908611 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020 0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00006
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu) rs755946598 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val) rs537467155 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_017799.4(TMEM260):c.1393C>T (p.Gln465Ter) rs201956469 0.00006
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser) rs376476266 0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) rs529924080 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met) rs181509591 0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile) rs542429051 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly) rs34757931 0.00006
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) rs121918423 0.00006
NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs) rs765912979 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu) rs779432560 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000129.4(F13A1):c.691-1G>A rs372296352 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter) rs104894172 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro) rs539962457 0.00005
NM_001163435.3(TBCK):c.2060-2A>G rs62321379 0.00005
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys) rs767778853 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_001737.5(C9):c.460C>T (p.Arg154Ter) rs144138616 0.00005
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro) rs146343535 0.00005
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) rs143821815 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe) rs199905054 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_152906.7(TANGO2):c.605+1G>A rs372949028 0.00005
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NR_023343.1:n.30G>A rs374299350 0.00005
NR_023343.3(RNU4ATAC):n.48G>A rs863225422 0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys) rs121908004 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu) rs121912984 0.00004
NM_000041.4(APOE):c.683G>A (p.Trp228Ter) rs121918396 0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000379.4(XDH):c.445C>T (p.Arg149Cys) rs72549369 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000486.6(AQP2):c.785C>T (p.Pro262Leu) rs104894339 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000539.3(RHO):c.745G>T (p.Glu249Ter) rs104893783 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys) rs387907324 0.00004
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) rs118204009 0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00004
NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys) rs200649090 0.00004
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg) rs137853119 0.00004
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) rs374343844 0.00004
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) rs777094000 0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093 0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004425.4(ECM1):c.1019del (p.Gln340fs) rs778473713 0.00004
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) rs121909116 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu) rs137852636 0.00004
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) rs776813259 0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr) rs587777688 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter) rs771379232 0.00004
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) rs749588235 0.00004
NM_007035.4(KERA):c.835C>T (p.Arg279Ter) rs386833986 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile) rs121908535 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs) rs794726855 0.00004
NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp) rs104893664 0.00004
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys) rs387906958 0.00004
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109 0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_018122.5(DARS2):c.536G>A (p.Arg179His) rs121918210 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) rs150219690 0.00004
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter) rs1382181446 0.00004
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met) rs121907893 0.00004
NM_145207.3(AFG2A):c.2531C>T (p.Ala844Val) rs796051892 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NM_203395.3(IYD):c.301C>T (p.Arg101Trp) rs121918138 0.00004
NM_203486.3(DLL3):c.945_946del (p.Ala317fs) rs786200900 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944 0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940 0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000055.4(BCHE):c.508G>A (p.Val170Met) rs527843566 0.00003
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534 0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000173.7(GP1BA):c.1620G>A (p.Trp540Ter) rs267606849 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln) rs267606925 0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) rs121909176 0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) rs41328049 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser) rs72549322 0.00003
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp) rs765269946 0.00003
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) rs1053773776 0.00003
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr) rs137853212 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718 0.00003
NM_001211.6(BUB1B):c.2386-11A>G rs751421137 0.00003
NM_001243133.2(NLRP3):c.55G>C (p.Asp19His) rs200154873 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229 0.00003
NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser) rs869025316 0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro) rs367600930 0.00003
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His) rs754786373 0.00003
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
NM_001625.4(AK2):c.498+1G>A rs777503956 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) rs768737101 0.00003
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) rs113994064 0.00003
NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu) rs387906822 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_004539.4(NARS1):c.50C>T (p.Thr17Met) rs148893823 0.00003
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) rs104894270 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val) rs750982844 0.00003
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr) rs121908626 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509 0.00003
NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs) rs752245649 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter) rs377340567 0.00003
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) rs104894492 0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049 0.00003
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571 0.00003
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) rs897487519 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) rs1281361203 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg) rs863225072 0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967 0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) rs398123012 0.00003
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln) rs767769359 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys) rs121918274 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) rs148067486 0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp) rs121918555 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) rs779748859 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys) rs754130052 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His) rs121908471 0.00003
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser) rs201835496 0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_177986.5(DSG4):c.865C>T (p.Arg289Ter) rs267606777 0.00003
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp) rs141431913 0.00003
NM_194292.3(SASS6):c.127-13A>G rs1406541512 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NM_213653.4(HJV):c.665T>A (p.Ile222Asn) rs74315325 0.00003
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000078.3(CETP):c.1321+1G>A rs5742907 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000146.4(FTL):c.89C>T (p.Thr30Ile) rs397514540 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248 0.00002
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr) rs121913640 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp) rs121917723 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val) rs137854540 0.00002
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 0.00002
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) rs121965016 0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) rs121909180 0.00002
NM_000486.6(AQP2):c.170A>C (p.Gln57Pro) rs28931580 0.00002
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_000486.6(AQP2):c.374C>T (p.Thr125Met) rs104894333 0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) rs28934586 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp) rs121912699 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter) rs118204043 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_001034116.2(EIF2B4):c.1070G>A (p.Arg357Gln) rs113994033 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs) rs1298330895 0.00002
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu) rs121909543 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001193329.3(AOPEP):c.763C>T (p.Arg255Ter) rs779393035 0.00002
NM_001195129.2(PRSS56):c.1555G>A (p.Gly519Arg) rs730882162 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001349.4(DARS1):c.1480C>G (p.Arg494Gly) rs147077598 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001365276.2(TNXB):c.9770C>T (p.Thr3257Ile) rs587777683 0.00002
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) rs137853028 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) rs63750959 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001673.5(ASNS):c.1019G>A (p.Arg340His) rs1360484422 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln) rs369398935 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu) rs750451843 0.00002
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) rs587779351 0.00002
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly) rs754080445 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208 0.00002
NM_003859.3(DPM1):c.455G>T (p.Gly152Val) rs587777116 0.00002
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059 0.00002
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg) rs1275864234 0.00002
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu) rs770633648 0.00002
NM_005340.7(HINT1):c.334C>A (p.His112Asn) rs373849532 0.00002
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg) rs774038272 0.00002
NM_005989.4(AKR1D1):c.398C>G (p.Pro133Arg) rs267606649 0.00002
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006295.3(VARS1):c.2840G>A (p.Arg947His) rs150882285 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln) rs753635972 0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) rs267606710 0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424 0.00002
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg) rs104894430 0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln) rs121908422 0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) rs587777714 0.00002
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs) rs765970053 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) rs121918207 0.00002
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) rs759393722 0.00002
NM_018668.5(VPS33B):c.1225+5G>C rs398122407 0.00002
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys) rs387907111 0.00002
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963 0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter) rs368482584 0.00002
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020365.5(EIF2B3):c.674G>A (p.Arg225Gln) rs113994024 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu) rs757332023 0.00002
NM_022662.4(ANAPC1):c.2705-198C>T rs999743155 0.00002
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys) rs756855066 0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys) rs760208518 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_032898.5(CEP19):c.232C>T (p.Arg78Ter) rs587777230 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln) rs749968109 0.00002
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) rs763862849 0.00002
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg) rs121434289 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr) rs751478115 0.00002
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val) rs104894246 0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_176869.3(PPA2):c.500C>T (p.Pro167Leu) rs546693824 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00002
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn) rs550855238 0.00002
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr) rs121434275 0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017 0.00001
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000045.4(ARG1):c.57+1G>A rs587776539 0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942 0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) rs28940585 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys) rs121912828 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) rs80051519 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_000111.3(SLC26A3):c.344del (p.Ile115fs) rs386833478 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) rs118203910 0.00001
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg) rs121965078 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199 0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584 0.00001
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) rs121909308 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis) rs397509434 0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_000196.4(HSD11B2):c.623G>A (p.Arg208His) rs28934592 0.00001
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) rs119481078 0.00001
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val) rs119481074 0.00001
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) rs121912482 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524 0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp) rs121434561 0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp) rs121965053 0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys) rs121965048 0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val) rs118203921 0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) rs104894177 0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000293.3(PHKB):c.306-2A>G rs797044442 0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022 0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704 0.00001
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg) rs137854541 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) rs137853290 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744 0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000369.5(TSHR):c.928C>T (p.Arg310Cys) rs121908882 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000379.4(XDH):c.682C>T (p.Arg228Ter) rs119460972 0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575 0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956 0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) rs29001685 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) rs28933074 0.00001
NM_000429.3(MAT1A):c.966T>G (p.Ile322Met) rs118204001 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000486.6(AQP2):c.377C>T (p.Thr126Met) rs104894330 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069 0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly) rs121964944 0.00001
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188 0.00001
NM_000508.3(FGA):c.103C>T (p.Arg35Cys) rs121909606 0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=) rs28942072 0.00001
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp) rs28933082 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000685.5(AGTR1):c.110dup (p.Ile38fs) rs387906577 0.00001
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys) rs369428934 0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) rs137852874 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) rs137852875 0.00001
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095 0.00001
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001002294.3(FMO3):c.198G>T (p.Met66Ile) rs72549323 0.00001
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln) rs1281276965 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His) rs775061512 0.00001
NM_001014437.3(CARS1):c.1271G>A (p.Arg424His) rs777861752 0.00001
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp) rs267607046 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682 0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654 0.00001
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) rs77078070 0.00001
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) rs121908007 0.00001
NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His) rs113994040 0.00001
NM_001037.5(SCN1B):c.448+88G>A rs267607028 0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) rs118204030 0.00001
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) rs431905516 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp) rs781036625 0.00001
NM_001080449.3(DNA2):c.593G>A (p.Arg198His) rs1272393477 0.00001
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg) rs765281145 0.00001
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp) rs755000701 0.00001
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His) rs387907082 0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083 0.00001
NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter) rs587777772 0.00001
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn) rs121909542 0.00001
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met) rs371035540 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383 0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T rs755560627 0.00001
NM_001128159.3(VPS53):c.1556+5G>A rs587777466 0.00001
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134382.3(IQSEC1):c.962G>A (p.Arg321Gln) rs758170522 0.00001
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422 0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg) rs387906785 0.00001
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859 0.00001
NM_001159773.2(CANT1):c.899G>A (p.Arg300His) rs267606699 0.00001
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys) rs121434309 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164405.2(BHLHA9):c.218G>C (p.Arg73Pro) rs672601338 0.00001
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823 0.00001
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) rs587779779 0.00001
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys) rs121909391 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001195129.2(PRSS56):c.958G>A (p.Gly320Arg) rs730882158 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His) rs765965968 0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) rs28989182 0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 0.00001
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459 0.00001
NM_001242957.3(MAK):c.37G>A (p.Gly13Ser) rs387906647 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001303.4(COX10):c.674C>T (p.Pro225Leu) rs104894556 0.00001
NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs) rs751499706 0.00001
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter) rs1210581905 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001354483.2(CSGALNACT1):c.1151C>G (p.Pro384Arg) rs746391651 0.00001
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) rs104893969 0.00001
NM_001360.3(DHCR7):c.412+3A>T rs786200926 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro) rs397514538 0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429 0.00001
NM_001367975.1(BTG4):c.166G>A (p.Ala56Thr) rs1865879702 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter) rs864321622 0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) rs17860424 0.00001
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg) rs759073156 0.00001
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr) rs1182312612 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro) rs121434429 0.00001
NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter) rs751172449 0.00001
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter) rs886039821 0.00001
NM_001379210.1(SLC25A26):c.33+1G>A rs781798317 0.00001
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) rs137852968 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp) rs137852961 0.00001
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) rs137852962 0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys) rs398122974 0.00001
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592 0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_002035.4(KDSR):c.879G>A (p.Gln293=) rs752611378 0.00001
NM_002133.3(HMOX1):c.636+2T>A rs747083748 0.00001
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp) rs797044989 0.00001
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) rs121908592 0.00001
NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys) rs398123042 0.00001
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) rs57802288 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_002496.4(NDUFS8):c.413G>A (p.Arg138His) rs111033588 0.00001
NM_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu) rs606231467 0.00001
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) rs766294940 0.00001
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter) rs121908887 0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638 0.00001
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu) rs757075712 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003283.6(TNNT1):c.309+1G>A rs149559898 0.00001
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp) rs1571308125 0.00001
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003632.3(CNTNAP1):c.967T>C (p.Cys323Arg) rs768554986 0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703 0.00001
NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys) rs113994055 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) rs201865375 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004174.4(SLC9A3):c.1039G>A (p.Glu347Lys) rs766583286 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp) rs751163782 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004318.4(ASPH):c.2127-2del rs1200332180 0.00001
NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr) rs121908609 0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys) rs770931044 0.00001
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val) rs387906872 0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs) rs386833883 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr) rs886041240 0.00001
NM_004795.4(KL):c.578A>G (p.His193Arg) rs121908423 0.00001
NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys) rs587776919 0.00001
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) rs606231471 0.00001
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met) rs267607090 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp) rs780318765 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys) rs3210083 0.00001
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp) rs587777332 0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp) rs587777334 0.00001
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp) rs770344400 0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu) rs121908625 0.00001
NM_005506.4(SCARB2):c.1187+2dup rs727502783 0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) rs137852639 0.00001
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met) rs28937320 0.00001
NM_005534.4(IFNGR2):c.1A>G (p.Met1Val) rs1316638883 0.00001
NM_005546.4(ITK):c.86G>A (p.Arg29His) rs397514261 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) rs121913561 0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) rs121434297 0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865 0.00001
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr) rs368743618 0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062 0.00001
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser) rs104894173 0.00001
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln) rs104894174 0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys) rs149378938 0.00001
NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter) rs529613640 0.00001
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu) rs1135401817 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006412.4(AGPAT2):c.493-1G>C rs606231168 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg) rs137853142 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln) rs587777514 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612 0.00001
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041 0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611 0.00001
NM_006580.4(CLDN16):c.206C>T (p.Ala69Val) rs765256758 0.00001
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) rs121908943 0.00001
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069 0.00001
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) rs121908946 0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_007055.4(POLR3A):c.1048+5G>T rs890755853 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.3337-5T>A rs368905417 0.00001
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857 0.00001
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) rs886037843 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp) rs121908081 0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_013339.4(ALG6):c.680+2T>G rs868768232 0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) rs267606970 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) rs775551492 0.00001
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) rs769100855 0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys) rs119473037 0.00001
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr) rs757078301 0.00001
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys) rs121434440 0.00001
NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter) rs104894427 0.00001
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp) rs104894426 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln) rs104894431 0.00001
NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg) rs121908482 0.00001
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys) rs2056165149 0.00001
NM_014712.3(SETD1A):c.4582-2_4582-1del rs755127868 0.00001
NM_014762.4(DHCR24):c.281G>A (p.Arg94His) rs387906939 0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) rs119475041 0.00001
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro) rs121918229 0.00001
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter) rs398122826 0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008 0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420 0.00001
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) rs752513525 0.00001
NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro) rs387907012 0.00001
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln) rs770654508 0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile) rs746489573 0.00001
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738 0.00001
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter) rs869312827 0.00001
NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter) rs869312748 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln) rs1047420796 0.00001
NM_017662.5(TRPM6):c.166C>T (p.Arg56Ter) rs121912624 0.00001
NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His) rs761410195 0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) rs1443735811 0.00001
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00001
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 0.00001
NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr) rs606231472 0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter) rs200788163 0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) rs750896617 0.00001
NM_018055.5(NODAL):c.891+1G>A rs878855044 0.00001
NM_018082.6(POLR3B):c.1857-2A>C rs267608686 0.00001
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp) rs104894629 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_018474.6(KIZ):c.52G>T (p.Glu18Ter) rs587777376 0.00001
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln) rs1292041526 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter) rs104894001 0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) rs104893998 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly) rs762515973 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser) rs74315312 0.00001
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) rs121908186 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro) rs587776972 0.00001
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu) rs121912817 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln) rs724159992 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val) rs1302753011 0.00001
NM_020944.3(GBA2):c.700C>T (p.Arg234Ter) rs398123013 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445 0.00001
NM_021175.4(HAMP):c.-25G>A rs944843686 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro) rs121917824 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866 0.00001
NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter) rs267606865 0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln) rs387906960 0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) rs397509417 0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220 0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222 0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226 0.00001
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp) rs121918277 0.00001
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) rs119479065 0.00001
NM_022445.4(TPK1):c.119T>C (p.Leu40Pro) rs387906936 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp) rs767748011 0.00001
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) rs121908359 0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val) rs777812455 0.00001
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) rs119473031 0.00001
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg) rs121907933 0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) rs531254130 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) rs387907040 0.00001
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) rs387907039 0.00001
NM_024339.5(THOC6):c.136G>A (p.Gly46Arg) rs587777030 0.00001
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp) rs201486601 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del) rs753472937 0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) rs727505361 0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala) rs1441937959 0.00001
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu) rs387906961 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter) rs281865112 0.00001
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) rs371848318 0.00001
NM_025077.4(TOE1):c.518T>G (p.Val173Gly) rs777030573 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter) rs751583919 0.00001
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu) rs767519084 0.00001
NM_025150.5(TARS2):c.387+6T>C rs1064797119 0.00001
NM_025150.5(TARS2):c.695+3A>G rs587777594 0.00001
NM_025152.3(NUBPL):c.693+1G>A rs751631278 0.00001
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309 0.00001
NM_025233.7(COASY):c.1486-3C>G rs577714887 0.00001
NM_025233.7(COASY):c.641C>T (p.Ala214Val) rs1567904066 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu) rs201987973 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) rs74315359 0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) rs104894703 0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter) rs752764598 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter) rs1263517814 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr) rs879253780 0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys) rs1351749039 0.00001
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro) rs121908257 0.00001
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter) rs199831317 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_139027.6(ADAMTS13):c.1584+5G>A rs782235228 0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261 0.00001
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys) rs1035842147 0.00001
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln) rs369544858 0.00001
NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg) rs74315417 0.00001
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe) rs767568897 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys) rs397509419 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074 0.00001
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) rs749779829 0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328 0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) rs752298579 0.00001
NM_152906.7(TANGO2):c.711-3C>G rs367912276 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153218.4(LACC1):c.988_990del (p.Ile330del) rs776489319 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu) rs104894254 0.00001
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_177986.5(DSG4):c.87del (p.Lys30fs) rs1325804776 0.00001
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys) rs587777643 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847 0.00001
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr) rs137852854 0.00001
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His) rs121434461 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg) rs137852211 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) rs34995376 0.00001
NM_203395.3(IYD):c.347T>C (p.Ile116Thr) rs121918139 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) rs745738318 0.00001
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly) rs397509387 0.00001
NM_213653.4(HJV):c.976C>T (p.Arg326Ter) rs74315324 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
FH Cape Town 2
G6PD NARA rs587776730
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
NC_000001.11:g.228149857A>G rs587777496
NC_000001.11:g.228149860A>G rs587776888
NC_000006.11:g.5610223_5726369del
NC_000008.11:g.11802586_11802601del rs1563290033
NC_000011.10:g.2171856C>T rs1372180906
NC_000011.10:g.5227157G>C rs33994806
NC_000014.9:g.87925163_87956828del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000017.11:g.1270783_1270784delinsTT rs886037856
NC_000018.9:g.77733765C>A rs727502793
NC_000018.9:g.77748581_77748614del34 rs535089924
NC_000019.10:g.11089411del rs387906307
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-CYB):m.14846G>A rs207459998
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-ND5):m.13042G>A rs267606898
NC_012920.1(MT-TK):m.8313G>A rs118192101
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TS1):m.7512T>C rs199474817
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) rs118204015
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla) rs386833418
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000035.4(ALDOB):c.1000-1_1006delinsTG rs2118333206
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.625-1G>A rs1564077542
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter) rs118204426
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000041.4(APOE):c.460C>A (p.Arg154Ser) rs121918393
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) rs28941474
NM_000045.4(ARG1):c.466-2A>G rs1554251045
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000049.4(ASPA):c.32del (p.Ile11fs) rs767666474
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly) rs104894551
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7967T>C (p.Leu2656Pro) rs121434218
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) rs121907997
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) rs104893684
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000073.3(CD3G):c.1A>G (p.Met1Val) rs104894199
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe) rs28999110
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser) rs72653169
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.2553+5G>T rs397509371
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu) rs587779528
NM_000090.4(COL3A1):c.582+5G>A rs587779671
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000093.5(COL5A1):c.655-2A>G rs786205101
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) rs137852655
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln) rs104894513
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000111.3(SLC26A3):c.145_157del (p.Lys49fs) rs386833456
NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) rs1584403556
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000125.4(ESR1):c.1181G>A (p.Arg394His) rs1131692059
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter) rs119103289
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.917A>G (p.Asn306Ser) rs137852251
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly) rs121965077
NM_000137.4(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.4(FAH):c.47A>T (p.Asn16Ile) rs121965073
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.6739+1G>C rs869025419
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_000140.5(FECH):c.1136del (p.Lys379fs) rs764466739
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000145.4(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000146.4(FTL):c.-164C>A rs398124637
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) rs104894694
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile) rs121434368
NM_000159.4(GCDH):c.883T>C (p.Tyr295His) rs121434366
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000163.5(GHR):c.618+792A>G rs1011727375
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp) rs121917712
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs) rs869312249
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.3(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000169.3(GLA):c.835C>G (p.Gln279Glu) rs28935485
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000171.4(GLRA1):c.298del (p.Arg100fs) rs281864915
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) rs121908063
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu) rs121918183
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000193.4(SHH):c.995T>C (p.Val332Ala) rs104894052
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His) rs121912468
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter) rs137852626
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) rs57536312
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs) rs2137534216
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) rs104893870
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.679-1G>A rs672601324
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) rs121918258
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) rs28933098
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr) rs74315340
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) rs121434260
NM_000270.4(PNP):c.520G>C (p.Ala174Pro) rs104894454
NM_000270.4(PNP):c.575A>G (p.Tyr192Cys) rs104894452
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.199+303C>G rs386833601
NM_000274.4(OAT):c.425-4_429del rs386833609
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000274.4(OAT):c.808G>C (p.Ala270Pro) rs121965041
NM_000274.4(OAT):c.812G>A (p.Arg271Lys) rs121965042
NM_000274.4(OAT):c.824G>A (p.Trp275Ter) rs267606924
NM_000277.3(PAH):c.1092_1094del (p.Leu365del) rs62516096
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) rs62516097
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) rs62644473
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.662A>G (p.Glu221Gly) rs62514934
NM_000277.3(PAH):c.731C>T (p.Pro244Leu) rs118203923
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser) rs79555199
NM_000282.4(PCCA):c.1899+2_1899+3insCT rs2081058900
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000285.4(PEPD):c.692_694del (p.Tyr231del) rs745834191
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg) rs104894530
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu) rs137854542
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.236A>G (p.Asp79Gly) rs137852697
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) rs74315410
NM_000314.8(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.74G>A (p.Arg25Gln) rs104894273
NM_000321.3(RB1):c.-189G>T rs387906520
NM_000321.3(RB1):c.-198G>A rs387906521
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2490-1398A>G rs587776791
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro) rs121912693
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn) rs121912668
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro) rs104893878
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000352.6(ABCC8):c.1333-1013A>G rs980458021
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000353.3(TAT):c.169C>T (p.Arg57Ter) rs118203914
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) rs397516359
NM_000368.5(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr) rs121908864
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.4(TTR):c.272T>C (p.Val91Ala) rs121918084
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) rs121909792
NM_000377.3(WAS):c.244T>C (p.Ser82Pro) rs132630272
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg) rs104893719
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000390.4(CHM):c.1520A>G (p.His507Arg) rs397514603
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000394.4(CRYAA):c.27G>A (p.Trp9Ter) rs74315440
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) rs74315304
NM_000397.4(CYBB):c.301C>T (p.His101Tyr) rs137854594
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000405.5(GM2A):c.262_264del (p.Lys88del) rs1753894328
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) rs121909752
NM_000410.4(HFE):c.848A>C (p.Gln283Pro) rs111033563
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) rs780017389
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) rs137852907
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter) rs119103276
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
NM_000451.4(SHOX):c.458G>T (p.Arg153Leu) rs137852555
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000454.5(SOD1):c.313A>T (p.Ile105Phe) rs121912445
NM_000454.5(SOD1):c.357_357+2del rs2123435651
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg) rs121912456
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer) rs1585616948
NM_000476.3(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) rs121918016
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) rs121918001
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) rs121918003
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000481.4(AMT):c.806G>A (p.Gly269Asp) rs121964981
NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter) rs120074111
NM_000483.5(APOC2):c.274dup (p.Gln92fs) rs756916028
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del) rs121912681
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr) rs121909557
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro) rs121909549
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) rs121909550
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu) rs121909555
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser) rs121909547
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000488.4(SERPINC1):c.830del (p.Glu277fs) rs1572088775
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.4(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter) rs111033547
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) rs111033552
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln) rs104894062
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs) rs758714890
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) rs121918479
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1290_1291del (p.His430fs) rs2142992359
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly) rs118204441
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000518.5(HBB):c.*110_*114del rs35949130
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.103G>T (p.Val35Phe) rs1141387
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000522.5(HOXA13):c.360_377dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAla) rs35861510
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) rs80356613
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1891_2311+1062del
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+86C>G rs587776886
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp) rs121908037
NM_000527.5(LDLR):c.326G>C (p.Cys109Ser) rs121908042
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) rs121434332
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000531.6(OTC):c.236G>A (p.Gly79Glu) rs72554331
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_000533.5(PLP1):c.453+2T>C rs1556267388
NM_000533.5(PLP1):c.453+4A>G rs1569427707
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_000533.5(PLP1):c.655G>T (p.Val219Phe) rs132630281
NM_000533.5(PLP1):c.762+3G>T rs1569428537
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) rs2084757679
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) rs121918590
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.14761_14762delinsAC (p.Phe4921Thr) rs118192171
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) rs267607074
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg) rs121918668
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro) rs61754006
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln) rs397514668
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000612.6(IGF2):c.195del (p.Ile66fs) rs1858779370
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) rs1555755242
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr) rs1553192086
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) rs1558008455
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn) rs2101995480
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000702.4(ATP1A2):c.835del (p.Arg279fs) rs1558005340
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys) rs137852872
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) rs137852876
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000720.4(CACNA1D):c.1208_1209insGGG (p.Gly403dup) rs398122827
NM_000733.4(CD3E):c.520+2T>C rs483352928
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_000760.4(CSF3R):c.998-2A>T rs879253750
NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln) rs387907322
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) rs28934604
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) rs28934605
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro) rs765556214
NM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr) rs397514555
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His) rs672601378
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs) rs398122823
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn) rs1569064110
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_000925.4(PDHB):c.310T>G (p.Leu104Val) rs201199166
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln) rs868788199
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys) rs28935769
NM_000932.5(PLCB3):c.2632G>T (p.Ala878Ser) rs760695903
NM_000937.5(POLR2A):c.2203C>T (p.Gln735Ter) rs1597798503
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) rs199706529
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000977.4(RPL13):c.477+1G>A rs1597675888
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg) rs2104735490
NM_001003722.2(GLE1):c.2078C>T (p.Ser693Phe) rs1564162129
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe) rs1567855669
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu) rs387907130
NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys) rs2072168176
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln) rs2072157379
NM_001007228.2(SPOP):c.395G>T (p.Gly132Val) rs2072155694
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn) rs2072153488
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala) rs2072244773
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del) rs1567154953
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter) rs1163930676
NM_001010867.4(IBA57):c.310G>T (p.Gly104Cys)
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) rs781627051
NM_001012339.3(DNAJC21):c.983+1G>T rs368148362
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys) rs281865427
NM_001013703.4(EIF2AK4):c.1387C>T (p.Arg463Ter) rs587777107
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs) rs587777102
NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln) rs587777106
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) rs1567626023
NM_001015878.2(AURKC):c.145del (p.Leu49fs) rs397515619
NM_001017980.4(VMA21):c.272G>C (p.Gly91Ala) rs878854354
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg) rs104893989
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001025295.3(IFITM5):c.119C>G (p.Ser40Trp) rs786201032
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly) rs587777067
NM_001031725.6(DDX59):c.185del (p.Phe62fs) rs773114666
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp) rs121908009
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) rs1702008435
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_001042424.3(NSD2):c.4028del (p.Pro1343fs) rs752037034
NM_001042432.2(CLN3):c.533+1G>C rs386833728
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn) rs1774229245
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001070.5(TUBG1):c.275A>G (p.Tyr92Cys) rs398123046
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001080.3(ALDH5A1):c.1014+723_1173+796del
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001080467.3(MYO5B):c.1966C>T (p.Arg656Cys) rs121908105
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys) rs777038090
NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly) rs1243762658
NM_001080517.3(SETD5):c.3856del (p.Ser1286fs) rs587777329
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr) rs1735294501
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg) rs1735303754
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser) rs1579377564
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly) rs1735116193
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys) rs864309499
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs) rs1114167284
NM_001099857.5(IKBKG):c.1117+5G>C rs1557236796
NM_001099857.5(IKBKG):c.944A>C (p.Glu315Ala) rs137853331
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.1097dup (p.Ser368fs) rs1554329078
NM_001101362.3(KBTBD13):c.1170G>C (p.Lys390Asn) rs1364598710
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg) rs1555369050
NM_001103.4(ACTN2):c.1459T>C (p.Cys487Arg) rs1572140109
NM_001103.4(ACTN2):c.2180T>G (p.Leu727Arg) rs1572148902
NM_001103.4(ACTN2):c.2194_2226del (p.Ala732_Ile742del) rs1572148914
NM_001105537.3(ZNF142):c.[4183delC;4185G>A]
NM_001105558.1(WEE2):c.224_227del (p.Glu75fs) rs768323979
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) rs28934905
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu) rs121909146
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) rs121909380
NM_001126128.2(PROK2):c.297dup (p.Gly100fs) rs768413190
NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys) rs2102125471
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) rs121908233
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu) rs869320716
NM_001129820.2(SLFN14):c.659T>A (p.Val220Asp) rs869320714
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln) rs387907348
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) rs781020381
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001130987.2(DYSF):c.1381-2A>G rs786200897
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) rs587777743
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter) rs1176071790
NM_001135629.3(PPP1R21):c.763del (p.Ile255fs)
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) rs1572996700
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser) rs1675334390
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg) rs2148705154
NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg) rs2148705154
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001143986.2(TLE6):c.1529C>A (p.Ser510Tyr) rs767222404
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln) rs2059194330
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)
NM_001145165.2(DOHH):c.654_655insAACC (p.Glu219fs) rs761870531
NM_001145304.2(IQCN):c.910C>T (p.Gln304Ter)
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs) rs886037847
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001161.5(NUDT2):c.174G>T (p.Glu58Asp)
NM_001161.5(NUDT2):c.34C>T (p.Arg12Ter) rs148119952
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) rs1554829003
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) rs1568480054
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs) rs1566212378
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg) rs121434308
NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter) rs121434306
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys) rs76344857
NM_001164811.2(PET117):c.172C>T (p.Gln58Ter) rs2037617604
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu) rs587777185
NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile) rs587777184
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala) rs386833830
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg) rs386833831
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys) rs878853277
NM_001183.6(ATP6AP1):c.289-233C>T
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001189.4(NKX3-2):c.507_508del (p.Gly171fs) rs1560165127
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro) rs1554709654
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) rs267606665
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001195553.2(DCX):c.808+1G>A rs1921403332
NM_001198533.2(OXR1):c.2317-1G>C rs1333855063
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001199198.3(TBC1D23):c.1687+2T>A rs1553731605
NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe) rs869025337
NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) rs1565532385
NM_001204375.2(NPR3):c.1088A>T (p.Asp363Val) rs1741953064
NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro) rs1433125500
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001206744.2(TPO):c.2421dup (p.Cys808fs) rs760307139
NM_001206999.2(CIT):c.29_38del (p.Asn10fs) rs879253817
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001231.5(CASQ1):c.731A>G (p.Asp244Gly) rs730882052
NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr) rs886039819
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg) rs387907121
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter) rs2050749062
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter) rs572662012
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro) rs1064793161
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001257096.2(PAX1):c.1169_1173dup (p.Pro392fs) rs1555804780
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001267052.2(UNC45B):c.2255+5G>C rs2092244236
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001277.3(CHKA):c.1021T>C (p.Phe341Leu) rs2134518071
NM_001277.3(CHKA):c.14dup (p.Cys6fs) rs2153034844
NM_001277115.2(DNAH11):c.13531_*36del (p.Ala4511_Ter4517del) rs1554294478
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278293.3(ARL6):c.266C>T (p.Ala89Val) rs587777805
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) rs1555810376
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp) rs1814677892
NM_001283.5(AP1S1):c.364dup (p.Asp122fs) rs767358930
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del) rs760676508
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001287491.2(TET3):c.2552C>T (p.Thr851Met) rs1573856970
NM_001288705.3(CSF1R):c.1969+115_1969+116del rs1581289103
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His) rs281860281
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) rs1253072668
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile) rs1602510214
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001304360.2(CFAP74):c.4380_4381dup (p.Phe1461fs)
NM_001312673.2(PCYT1A):c.669G>C (p.Arg223Ser) rs540053239
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs) rs587777193
NM_001312909.2(FAM111A):c.1012A>G (p.Thr338Ala) rs587777014
NM_001312909.2(FAM111A):c.1579C>A (p.Pro527Thr) rs587777015
NM_001312909.2(FAM111A):c.1583A>G (p.Asp528Gly) rs587777013
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro) rs1567198751
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs) rs1567128142
NM_001319074.4(RAX2):c.411CCCGGG[3] (p.138PG[3]) rs549932754
NM_001321075.3(DLG4):c.1543+2T>C rs1597444614
NM_001321380.2(PIK3C2A):c.-75-13528T>G rs1565287817
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001326411.2(PISD):c.899G>A (p.Cys300Tyr) rs2072505076
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330288.2(SMARCC2):c.1926+2T>C rs1565903353
NM_001346194.2(OXGR1):c.371T>G (p.Leu124Arg)
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348716.2(KDM6B):c.3762_3764del (p.Asp1254del)
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp) rs1876920040
NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu) rs1877026127
NM_001353345.2(SETD1B):c.5842G>A (p.Glu1948Lys) rs2137594297
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001354483.2(CSGALNACT1):c.1294G>T (p.Asp432Tyr) rs2054868908
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354768.3(NRL):c.479T>C (p.Leu160Pro) rs104894463
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs) rs727503779
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001365308.1(BMPER):c.410T>A (p.Val137Asp) rs1554300601
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter) rs2136193860
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys) rs2108829926
NM_001367823.1(ARHGEF18):c.2181+5G>A rs1064793002
NM_001367975.1(BTG4):c.73C>T (p.Gln25Ter) rs1865886567
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_001368894.2(PAX6):c.10+5G>C rs587776572
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly) rs121907913
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) rs104894268
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp) rs118203975
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001371986.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_001371986.1(UNC80):c.7805G>C (p.Arg2602Thr) rs869025317
NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter) rs869025319
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001372123.1(IKZF5):c.286C>T (p.Arg96Trp) rs2133384781
NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro) rs1849295075
NM_001372123.1(IKZF5):c.401G>A (p.Gly134Glu) rs2133379889
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu) rs200806519
NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter) rs1562435373
NM_001374736.1(DST):c.608C>A (p.Ala203Glu) rs201871537
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu) rs869312668
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr) rs1562945106
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val) rs587777453
NM_001378418.1(TCF20):c.310_313dup (p.Gln105fs) rs1569154591
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter) rs137853013
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp) rs1758081729
NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp) rs1758081491
NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg) rs1759346639
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379291.1(BRD4):c.1289A>G (p.Tyr430Cys)
NM_001379451.1(BCORL1):c.95C>T (p.Pro32Leu) rs1603105985
NM_001379500.1(COL18A1):c.3013+3A>C rs770631950
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs) rs1447313633
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs) rs1559296368
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) rs397514677
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384732.1(CPLANE1):c.3290-2A>G rs606231260
NM_001386135.1(AFF3):c.698C>T (p.Ala233Val) rs2104734977
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001387263.1(PATL2):c.784C>T (p.Arg262Ter) rs1351320025
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met) rs564811653
NM_001394966.1(NEK10):c.1230+5G>C rs1253689023
NM_001395891.1(CLASP1):c.196-562G>T rs370715569
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu) rs888630930
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)
NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala) rs879255242
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_001482.3(GATM):c.446G>A (p.Trp149Ter) rs80338737
NM_001482.3(GATM):c.608A>C (p.Tyr203Ser) rs397514709
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458
NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro) rs1782008883
NM_001563.4(IMPG1):c.1824+1G>A rs770887047
NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter) rs397514509
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn) rs587777388
NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu) rs730880256
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001655.5(ARCN1):c.654-15A>G rs1591385240
NM_001658.4(ARF1):c.296G>A (p.Arg99His) rs1558087712
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_001711.6(BGN):c.5G>A (p.Trp2Ter) rs886037823
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001776.6(ENTPD1):c.574-6_574-3del rs1412393736
NM_001783.4(CD79A):c.379+1G>A rs1555843601
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001791.4(CDC42):c.242G>T (p.Cys81Phe) rs1553196100
NM_001807.6(CEL):c.1776del (p.Val593fs) rs193922638
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) rs1732900321
NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr) rs2150267036
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) rs121912871
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) rs778740017
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn) rs753751183
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val) rs80356790
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1876-1G>A rs80356798
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_001913.5(CUX1):c.61C>T (p.Gln21Ter) rs1562875556
NM_001923.5(DDB1):c.637G>A (p.Glu213Lys) rs2134934938
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001970.5(EIF5A):c.325C>T (p.Arg109Ter) rs2143009613
NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro) rs2136818517
NM_001982.4(ERBB3):c.2695G>A (p.Val899Met) rs2136822199
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp) rs1064797083
NM_002017.5(FLI1):c.1028A>G (p.Tyr343Cys) rs1064797084
NM_002055.5(GFAP):c.236G>A (p.Arg79His) rs59285727
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) rs587777020
NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys) rs2116052322
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002109.6(HARS1):c.395C>T (p.Thr132Ile) rs143473232
NM_002163.4(IRF8):c.238A>G (p.Thr80Ala) rs397514711
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del) rs1948868228
NM_002181.4(IHH):c.478C>T (p.Arg160Cys) rs1948842030
NM_002185.5(IL7R):c.394C>T (p.Pro132Ser) rs104893894
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys) rs387906834
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) rs121918542
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) rs1057519077
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys) rs56821304
NM_002282.3(KRT83):c.811del (p.Ser271fs) rs753293188
NM_002294.3(LAMP2):c.1082del (p.Lys361fs) rs1436664364
NM_002296.4(LBR):c.1504C>G (p.Arg502Gly) rs1131691304
NM_002296.4(LBR):c.1639A>G (p.Asn547Asp) rs587777171
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) rs386833836
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) rs80358313
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002337.4(LRPAP1):c.863_864del (p.Ile288fs) rs398122836
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met) rs2143631386
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) rs730882218
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) rs761317200
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002439.5(MSH3):c.2319-1G>A rs866260675
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys) rs564856283
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro) rs1421405659
NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del) rs878852993
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002526.4(NT5E):c.1608dup (p.Val537fs) rs774200574
NM_002529.4(NTRK1):c.1729G>C (p.Gly577Arg) rs121964866
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu) rs121964868
NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys) rs1565583382
NM_002576.5(PAK1):c.392A>G (p.Tyr131Cys) rs1565638316
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro)
NM_002700.3(POU4F3):c.952G>A (p.Val318Met) rs2126962041
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) rs915349596
NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys) rs1561733474
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup) rs864622012
NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg) rs148280386
NM_002734.5(PRKAR1A):c.891+3A>G rs281864799
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002768.5(CHMP1A):c.28-13G>A rs398122918
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_002778.4(PSAP):c.643A>C (p.Asn215His) rs121918107
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002916.5(RFC4):c.824_826del (p.Asp275del)
NM_002929.3(GRK1):c.1172C>A (p.Pro391His) rs570621429
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002971.6(SATB1):c.1574A>G (p.Gln525Arg) rs1695858904
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003002.4(SDHD):c.443del (p.Gly148fs) rs587776646
NM_003011.4(SET):c.244T>G (p.Trp82Gly) rs1554776500
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003038.5(SLC1A4):c.1141G>A (p.Gly381Arg) rs1674240361
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003051.4(SLC16A1):c.490dup (p.Leu164fs) rs606231312
NM_003051.4(SLC16A1):c.499del (p.Val167fs) rs606231301
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu) rs1392638187
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His) rs1057517666
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs) rs1554085861
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu) rs72552735
NM_003060.4(SLC22A5):c.1451-1G>A rs386134224
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile) rs121908892
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003086.4(SNAPC4):c.2527+1G>A
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003094.4(SNRPE):c.1A>G (p.Met1Val) rs587776924
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) rs121918357
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003140.3(SRY):c.192G>A (p.Met64Ile) rs104894969
NM_003143.3(SSBP1):c.119G>T (p.Gly40Val) rs1799653139
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_003184.4(TAF2):c.2380T>A (p.Tyr794Asn) rs2131063622
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del) rs199474801
NM_003283.6(TNNT1):c.74-67C>A
NM_003285.3(TNR):c.2713C>T (p.Arg905Ter) rs1287757170
NM_003285.3(TNR):c.2744_2745del (p.Val915fs) rs1571339601
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg) rs1586182837
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) rs1586182912
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.99+1G>A rs281865166
NM_003334.4(UBA1):c.121A>C (p.Met41Leu) rs1936307795
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn) rs1965729129
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro) rs1555487318
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp) rs374661051
NM_003392.7(WNT5A):c.544T>C (p.Cys182Arg) rs387906663
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003441.4(ZNF141):c.1421C>T (p.Thr474Ile) rs587776959
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003491.4(NAA10):c.*39A>G rs1603289774
NM_003491.4(NAA10):c.*40A>G rs1342269961
NM_003491.4(NAA10):c.*43A>G rs1603289772
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs) rs34391522
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_003504.5(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.5(CDC45):c.893C>T (p.Ala298Val) rs146559223
NM_003542.4(H4C3):c.275A>G (p.Lys92Arg) rs2113784630
NM_003551.3(NME5):c.572G>A (p.Trp191Ter)
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) rs1553535841
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003659.4(AGPS):c.1256G>A (p.Arg419His) rs121434411
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile) rs121434412
NM_003660.4(PPFIA3):c.1492C>T (p.Arg498Trp)
NM_003660.4(PPFIA3):c.2717C>T (p.Ser906Leu)
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp) rs1280845604
NM_003676.4(DEGS1):c.395A>G (p.His132Arg) rs1558209997
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val) rs1558211070
NM_003681.5(PDXK):c.225T>A (p.Asn75Lys) rs1601814238
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln) rs1057519634
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter) rs2141125120
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) rs779536510
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_003824.4(FADD):c.315T>G (p.Cys105Trp) rs387906839
NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup) rs879253796
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro) rs587777114
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003907.3(EIF2B5):c.1157G>T (p.Gly386Val) rs113994074
NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val) rs113994043
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter) rs121908678
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser) rs2124253547
NM_004147.4(DRG1):c.160G>T (p.Gly54Ter)
NM_004147.4(DRG1):c.418C>T (p.Arg140Ter)
NM_004147.4(DRG1):c.742_743inv (p.Asn248Phe)
NM_004147.4(DRG1):c.787A>T (p.Lys263Ter)
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_004184.4(WARS1):c.1255G>A (p.Asp419Asn)
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004214.5(FIBP):c.175_176insTAA (p.His59delinsLeuAsn) rs886037928
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr) rs1566863801
NM_004239.4(TRIP11):c.202-2A>G rs863223281
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter) rs780625551
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val) rs1566843321
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter) rs781508063
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004360.5(CDH1):c.1711+1dup rs2152137028
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004373.4(COX6A1):c.247-7_247-3del rs587777783
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004431.5(EPHA2):c.2826-9G>A rs886041412
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) rs397516975
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004462.5(FDFT1):c.880-24_880-23delinsAG rs1563339323
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) rs137853264
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004465.2(FGF10):c.577C>T (p.Arg193Ter) rs104893884
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser) rs1663960324
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro) rs376870425
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004522.3(KIF5C):c.710A>T (p.Glu237Val) rs587777035
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004527.4(MEOX1):c.94del (p.Ala32fs) rs1567750527
NM_004530.6(MMP2):c.1210G>A (p.Glu404Lys) rs121912955
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr) rs267606913
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) rs104894630
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser) rs864321630
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg) rs864321628
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys) rs104893835
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) rs527236036
NM_004836.7(EIF2AK3):c.1570_1573del (p.Lys523_Glu524insTer) rs1558652941
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004863.4(SPTLC2):c.1145G>T (p.Gly382Val) rs267607089
NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe) rs1594986869
NM_004897.5(MINPP1):c.1210C>T (p.Arg404Ter) rs1311614264
NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp) rs2131792567
NM_004897.5(MINPP1):c.75_94del (p.Leu27fs) rs1323094107
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_004928.3(CFAP410):c.643-23A>T rs1131690800
NM_004947.5(DOCK3):c.1038-2A>G rs1560212751
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)
NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter) rs372318863
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del) rs748846799
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys) rs2043443851
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg) rs2043431490
NM_005094.4(SLC27A4):c.716-1G>A rs1588559786
NM_005101.4(ISG15):c.379G>T (p.Glu127Ter) rs672601312
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys) rs1060499547
NM_005157.6(ABL1):c.689C>T (p.Pro230Leu) rs1831097846
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg) rs1597176845
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005214.5(CTLA4):c.109+1G>T rs606231421
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys) rs121917705
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) rs104894516
NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) rs121909106
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_005264.8(GFRA1):c.676C>T (p.Arg226Ter) rs191814086
NM_005267.5(GJA8):c.262C>T (p.Pro88Ser) rs80358200
NM_005267.5(GJA8):c.68G>C (p.Arg23Thr) rs80358203
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005276.4(GPD1):c.686G>C (p.Arg229Pro) rs199673455
NM_005321.3(H1-4):c.430dup (p.Ala144fs) rs1131690805
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg) rs2143629984
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu) rs1956961224
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu) rs1956891911
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005356.5(LCK):c.1129dup (p.Ser377fs) rs1569967422
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005412.6(SHMT2):c.1495C>G (p.Pro499Ala) rs2037465152
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro) rs121917879
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005450.6(NOG):c.104C>G (p.Pro35Arg) rs104894611
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005515.4(MNX1):c.852+1G>A rs1563700419
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro) rs372079931
NM_005534.4(IFNGR2):c.800del (p.Phe267fs) rs2123370265
NM_005546.4(ITK):c.1003C>T (p.Arg335Trp) rs121908191
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter) rs267607468
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) rs60554162
NM_005554.4(KRT6A):c.1460-2A>C rs113369052
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys) rs137852762
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del) rs1325298827
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005611.4(RBL2):c.556C>T (p.Arg186Ter) rs2153138545
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp) rs122453118
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val) rs122453117
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) rs1565962725
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys) rs144900171
NM_005639.3(SYT1):c.908T>A (p.Met303Lys) rs1565922388
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly) rs1565922395
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter) rs1601844140
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) rs587777276
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
NM_005687.5(FARSB):c.848+1G>A rs777071414
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005718.5(ARPC4):c.472C>T (p.Arg158Cys) rs2125650298
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs) rs1563983151
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_005859.5(PURA):c.299T>C (p.Leu100Pro) rs587782995
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.367C>G (p.Leu123Val) rs587777344
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005869.4(CWC27):c.1002dup (p.Val335fs) rs752159903
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter) rs1554054831
NM_005912.3(MC4R):c.374_375inv (p.Ile125Lys)
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) rs121913564
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro) rs1555336810
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile) rs1555337681
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser) rs267606887
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) rs1578609780
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) rs727503745
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) rs863224268
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006016.6(CD164):c.574C>T (p.Arg192Ter) rs876661402
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer) rs761516738
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) rs587777429
NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg) rs587777468
NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr) rs761635539
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) rs1554786803
NM_006129.5(BMP1):c.747C>G (p.Phe249Leu) rs398122891
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) rs121434229
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006236.3(POU3F3):c.1085G>T (p.Arg362Leu) rs1158292126
NM_006236.3(POU3F3):c.1220G>T (p.Arg407Leu) rs1573320988
NM_006236.3(POU3F3):c.196_197delinsT (p.Asp66fs) rs1573319752
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del) rs1563686762
NM_006280.3(SSR4):c.358_359del (p.Arg120fs) rs794729223
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup) rs751641438
NM_006348.5(COG5):c.2T>G (p.Met1Arg) rs375702393
NM_006364.4(SEC23A):c.1795G>A (p.Glu599Lys) rs2139193533
NM_006390.4(IPO8):c.262G>A (p.Asp88Asn) rs1234764565
NM_006408.4(AGR2):c.211C>A (p.Pro71Thr)
NM_006408.4(AGR2):c.349C>T (p.His117Tyr)
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter) rs1255380257
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg) rs578205635
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys) rs1554166844
NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn) rs1840520188
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys) rs587777513
NM_006439.5(MAB21L2):c.151C>T (p.Arg51Cys) rs587777512
NM_006439.5(MAB21L2):c.152G>A (p.Arg51His) rs587777511
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) rs121434236
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) rs121908292
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006496.4(GNAI3):c.140G>A (p.Ser47Asn) rs1553223897
NM_006513.4(SARS1):c.638G>T (p.Arg213Leu) rs539161490
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) rs104893723
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006715.4(MAN2C1):c.2733_2734del (p.His911fs) rs763231900
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006744.4(RBP4):c.176T>A (p.Ile59Asn) rs121918584
NM_006744.4(RBP4):c.278G>A (p.Gly93Asp) rs121918585
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter) rs140609531
NM_006796.3(AFG3L2):c.1010G>A (p.Gly337Glu) rs1908566777
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) rs730882253
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) rs28931605
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys) rs2115201389
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) rs1057520753
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006924.5(SRSF1):c.478G>A (p.Val160Met)
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del) rs1582192007
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa) rs397515368
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln) rs587777148
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007126.5(VCP):c.1184A>G (p.Asp395Gly) rs1828721782
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser) rs1567941256
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter) rs1568820302
NM_007192.4(SUPT16H):c.2200C>T (p.Arg734Trp) rs2139399670
NM_007217.4(PDCD10):c.557+4_557+7del rs1553759042
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_007315.4(STAT1):c.1760_1761del (p.Glu587fs) rs587776713
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_012079.6(DGAT1):c.884T>C (p.Leu295Pro) rs863225093
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_013245.3(VPS4A):c.83C>T (p.Ala28Val) rs1965431981
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs) rs876657405
NM_013328.4(PYCR2):c.595C>T (p.Arg199Trp) rs758595075
NM_013328.4(PYCR2):c.773T>C (p.Val258Ala) rs886037932
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro) rs121908444
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_013382.7(POMT2):c.1333-14G>A rs918556979
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) rs1553253990
NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs) rs1586692058
NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs) rs1586687279
NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro) rs1586681982
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln) rs766053952
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter) rs576969206
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) rs1554197721
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) rs863225094
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln) rs121908534
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys) rs864309720
NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg) rs121908483
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) rs122461161
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys) rs749803238
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe) rs74832989
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His) rs121908377
NM_014585.6(SLC40A1):c.470A>G (p.Asp157Gly) rs104893663
NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del) rs878854984
NM_014625.4(NPHS2):c.479A>G (p.Asp160Gly) rs74315346
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)
NM_014672.4(PRORP):c.1241C>T (p.Ala414Val)
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) rs113994122
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter) rs1057519281
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_014738.6(TMEM94):c.2734C>T (p.Arg912Ter) rs557746506
NM_014738.6(TMEM94):c.810del (p.Asp270fs) rs1567950778
NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg) rs587777088
NM_014762.4(DHCR24):c.1412A>C (p.Tyr471Ser) rs28939092
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) rs1359602238
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter) rs1891340555
NM_014844.5(TECPR2):c.774del (p.Asp259fs) rs772483312
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=) rs1553254322
NM_014905.5(GLS):c.866A>T (p.Lys289Ile) rs2124851950
NM_014908.4(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014915.3(ANKRD26):c.-128G>A rs1589393809
NM_014915.3(ANKRD26):c.-134G>A rs863223318
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter) rs904072058
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014967.5(FAN1):c.1375+1G>A rs1305708707
NM_014975.3(MAST1):c.580GAG[1] (p.Glu195del) rs1568408280
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter) rs2071226510
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn) rs1783518295
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter) rs756659230
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp) rs1185537869
NM_015154.3(MESD):c.631_632del (p.Lys211fs) rs745891632
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) rs1554504656
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys) rs879253864
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) rs879253863
NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala) rs1562489143
NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys) rs1562489156
NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro) rs1562489224
NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn) rs1562489240
NM_015278.5(SASH1):c.1651T>C (p.Tyr551His) rs1562490566
NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp) rs1562490566
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) rs386834000
NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser) rs121908391
NM_015294.6(TRIM37):c.810-1G>A rs386834006
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) rs386834007
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015330.6(SPECC1L):c.1246G>A (p.Ala416Thr) rs1569420568
NM_015330.6(SPECC1L):c.1249A>C (p.Thr417Pro) rs111653895
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly) rs1575289366
NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile) rs1575308774
NM_015340.4(LARS2):c.388G>A (p.Ala130Thr) rs1575240334
NM_015340.4(LARS2):c.683G>A (p.Arg228His) rs770440975
NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter) rs765498367
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) rs1057519338
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015450.3(POT1):c.1687-1G>A rs587777473
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015557.3(CHD5):c.940G>T (p.Glu314Ter) rs754586094
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015629.4(PRPF31):c.527+3A>G rs587776590
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser) rs863224193
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg) rs730882219
NM_015836.4(WARS2):c.797del (p.Pro266fs) rs746478253
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015937.6(PIGT):c.547A>C (p.Thr183Pro) rs587777027
NM_015958.3(DPH5):c.779A>G (p.His260Arg)
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu) rs864309606
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) rs1553309983
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016077.5(PTRH2):c.269_270del (p.Ala90fs) rs786201017
NM_016100.5(NAA20):c.160A>G (p.Met54Val) rs2146464332
NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys) rs1569309816
NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn) rs1569309460
NM_016138.5(COQ7):c.599_600delinsTAATGCATC (p.Lys200fs) rs1962955145
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter) rs749597091
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg) rs1553849919
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro) rs1553850185
NM_016312.3(WBP11):c.612del (p.Gly205fs) rs1949868116
NM_016327.3(UPB1):c.1034A>T (p.Asn345Ile) rs1012254852
NM_016406.4(UFC1):c.317C>T (p.Thr106Ile) rs1553232770
NM_016417.3(GLRX5):c.148AAG[1] (p.Lys51del) rs869320757
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro) rs199476398
NM_016630.7(SPG21):c.153del (p.Val52fs) rs2140441397
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) rs773876739
NM_017414.4(USP18):c.1073+1G>A rs1602534094
NM_017414.4(USP18):c.652C>T (p.Gln218Ter) rs1085307118
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile) rs199469640
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) rs199469635
NM_017541.4(CRYGS):c.116C>G (p.Ser39Cys) rs1184398243
NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) rs267606830
NM_017613.4(DONSON):c.876C>G (p.Phe292Leu) rs779803447
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_017679.5(BCAS3):c.726T>G (p.Tyr242Ter) rs2145000036
NM_017714.3(TASP1):c.701C>T (p.Thr234Met) rs904200599
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser) rs1602413491
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) rs1557733311
NM_017825.3(ADPRS):c.292del (p.Val98fs) rs1557733367
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) rs368433666
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu) rs200626873
NM_017866.6(TMEM70):c.578_579del (p.Thr193fs) rs777501387
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017934.7(PHIP):c.3571C>T (p.Gln1191Ter) rs1554196907
NM_017946.4(FKBP14):c.197+5_197+8del rs747353360
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017951.5(SMPD4):c.82C>T (p.Gln28Ter) rs1573728266
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer) rs2132214841
NM_018075.5(ANO10):c.1476+1G>T rs761213683
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp) rs587777047
NM_018116.4(MSTO1):c.1259del (p.Gly420fs) rs1248439783
NM_018122.5(DARS2):c.228-22T>A rs1557853625
NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg) rs1558091788
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly) rs1558108130
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018245.3(OGDHL):c.895A>G (p.Arg299Gly) rs924975413
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val) rs1562168768
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) rs267607056
NM_018359.5(UFSP2):c.1283A>G (p.His428Arg) rs2095515802
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018444.4(PDP1):c.500dup (p.Leu167fs) rs1810312864
NM_018668.5(VPS33B):c.390_392delinsAGA (p.Gly131Glu) rs2151674862
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) rs786205669
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) rs606231237
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) rs1411237396
NM_018941.4(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.4(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.4(CLN8):c.88del (p.Ala30fs) rs386834139
NM_018947.6(CYCS):c.124G>A (p.Gly42Ser) rs121918552
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018993.4(RIN2):c.2104dup (p.Leu702fs) rs1568718508
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs) rs763953657
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019096.5(GTPBP2):c.1236+1G>A rs1252019134
NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs) rs1768790302
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys) rs777418116
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020184.4(CNNM4):c.1312dup (p.Leu438fs)
NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln) rs75267011
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys) rs1565707103
NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr) rs864321633
NM_020427.3(SLURP1):c.1A>C (p.Met1Leu) rs28937889
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) rs863225304
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020791.4(TAOK1):c.2203del (p.Arg735fs) rs2150772064
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020810.3(TRMT5):c.665T>C (p.Ile222Thr) rs766935145
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020944.3(GBA2):c.1780G>C (p.Asp594His) rs398123064
NM_020944.3(GBA2):c.2618G>A (p.Arg873His) rs398123015
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg) rs1057524157
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del) rs1554943158
NM_021008.4(DEAF1):c.997+4A>C rs886040972
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) rs587777495
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly) rs2147992303
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs) rs749980819
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter) rs774833524
NM_021625.5(TRPV4):c.1853T>C (p.Leu618Pro) rs515726163
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp) rs387907340
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter) rs569240271
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser) rs121917823
NM_021954.4(GJA3):c.227G>A (p.Arg76His) rs121917827
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg) rs398122937
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu) rs121917825
NM_021954.4(GJA3):c.563A>C (p.Asn188Thr) rs140332366
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp) rs397514703
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) rs796051860
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu) rs121918270
NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro) rs121918275
NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu) rs121918276
NM_022370.4(ROBO3):c.2108G>C (p.Arg703Pro) rs121918271
NM_022370.4(ROBO3):c.2113T>C (p.Ser705Pro) rs121918272
NM_022445.4(TPK1):c.179_182del (p.Arg60fs) rs1563989427
NM_022464.5(SIL1):c.645+2T>C
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) rs104893946
NM_022834.5(VWA1):c.879del (p.Arg293fs) rs746212067
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln) rs761343107
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter) rs746341112
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024105.4(ALG12):c.424T>G (p.Phe142Val) rs28942090
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) rs104894684
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr) rs121918217
NM_024306.5(FA2H):c.786+1G>A rs1567633766
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_024426.6(WT1):c.1348C>T (p.His450Tyr) rs28942089
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter) rs1292724234
NM_024514.5(CYP2R1):c.367+1G>A rs202011621
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024587.4(TMEM53):c.62-5_62-3del rs1644889088
NM_024589.3(ROGDI):c.45+9_45+20del rs772340154
NM_024593.4(CLXN):c.292C>T (p.Arg98Ter)
NM_024593.4(CLXN):c.367G>T (p.Glu123Ter)
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) rs1565216037
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) rs565224393
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024769.5(CLMP):c.508C>T (p.Arg170Ter) rs765907815
NM_024818.6(UBA5):c.503G>A (p.Gly168Glu) rs886039761
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro) rs1321552081
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_024926.4(IFT56):c.788A>G (p.Asn263Ser) rs1794039778
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys) rs1570621473
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter) rs1056125920
NM_025114.4(CEP290):c.180+2T>A rs386834150
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025130.4(HKDC1):c.173C>T (p.Thr58Met) rs142379141
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) rs28937899
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) rs1052954321
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly) rs2102494691
NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln) rs1322913410
NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr) rs1064797120
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu) rs587777593
NM_025193.4(HSD3B7):c.322+1G>T rs387906288
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266
NM_025265.4(TSEN2):c.960+1_960+5del rs886037738
NM_030578.4(B9D2):c.15C>A (p.His5Gln) rs1388769907
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030653.4(DDX11):c.788G>A (p.Arg263Gln) rs201968272
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030923.5(TMEM163):c.227T>C (p.Leu76Pro)
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653
NM_030954.4(RNF170):c.304T>C (p.Cys102Arg) rs1183403793
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp) rs1057518699
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) rs587776958
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs) rs753229591
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) rs1060499539
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs) rs1973237748
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs) rs1443687532
NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys) rs2057483219
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser) rs869312897
NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs) rs869312895
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=) rs869312896
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_032217.5(ANKRD17):c.4091G>C (p.Gly1364Ala) rs2148684587
NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys) rs12799308
NM_032228.6(FAR1):c.1439G>A (p.Arg480His) rs1057517926
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp) rs727502796
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter) rs587777070
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs) rs766244312
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032581.4(HYCC1):c.414+1G>T rs72549406
NM_032601.4(MCEE):c.379-644A>G
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) rs1569308524
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs) rs869320746
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp) rs1954336272
NM_032756.4(HPDL):c.1024C>T (p.Gln342Ter) rs1644265859
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) rs571640983
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032861.4(SERAC1):c.1167_1170del rs772296795
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033109.5(PNPT1):c.2014-3C>G rs748445058
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033124.5(DRC2):c.877_878del (p.Ile293fs) rs863223325
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro) rs1567618413
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly) rs1426262136
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu) rs1565369746
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter) rs1567871748
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_033419.5(PGAP3):c.851A>G (p.His284Arg) rs776720232
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) rs864309511
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup) rs864309512
NM_052865.4(MGME1):c.456G>A (p.Trp152Ter) rs587776943
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_052988.5(CDK10):c.139del (p.Glu47fs) rs1555516716
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del) rs121908406
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs) rs1380822792
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val) rs869320701
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_080675.4(SUN5):c.381del (p.Val128fs) rs781693813
NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter) rs587777635
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs) rs587777059
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg) rs886037846
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr) rs111033597
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_138295.5(PKD1L1):c.6473+2_6473+3del rs528302390
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter) rs587777698
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) rs1085307451
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu) rs121909244
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter) rs375189195
NM_138927.4(SON):c.3073dup (p.Met1025fs) rs886039778
NM_138927.4(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) rs886039774
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) rs397514614
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter) rs61729699
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_145054.5(CFAP52):c.1304del (p.Gly435fs) rs1360832162
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter) rs146254972
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg) rs118203981
NM_152269.5(MTRFR):c.248del (p.Val83fs) rs587776508
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter) rs398122365
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) rs1557999318
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys) rs367579275
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs) rs768842269
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337
NM_152713.5(STT3A):c.1214G>A (p.Arg405His) rs780062429
NM_152713.5(STT3A):c.137A>G (p.His46Arg) rs2135904246
NM_152713.5(STT3A):c.479G>A (p.Arg160Gln) rs2135921186
NM_152722.5(HEPACAM):c.266G>A (p.Gly89Asp) rs387907054
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln) rs387907050
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152906.7(TANGO2):c.280del (p.His94fs)
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro) rs104894605
NM_153006.3(NAGS):c.916-2A>T rs730880267
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_153332.4(ERI1):c.352A>T (p.Lys118Ter)
NM_153332.4(ERI1):c.401A>G (p.Asp134Gly)
NM_153332.4(ERI1):c.450A>T (p.Glu150Asp)
NM_153332.4(ERI1):c.464C>T (p.Pro155Leu)
NM_153332.4(ERI1):c.62C>A (p.Ser21Ter)
NM_153332.4(ERI1):c.893A>G (p.Asp298Gly)
NM_153332.4(ERI1):c.895T>C (p.Ser299Pro)
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_153689.6(C2orf69):c.298del (p.Gln100fs) rs2077262520
NM_153704.6(TMEM67):c.1575+1G>A rs386834187
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_153704.6(TMEM67):c.648del (p.Val217fs) rs386834204
NM_153704.6(TMEM67):c.870-2A>G rs386834207
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr) rs104894253
NM_153816.6(SNX14):c.1894+1G>T rs876657386
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_173086.5(KRT6C):c.1414G>A (p.Glu472Lys) rs587777292
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs) rs1589150410
NM_173560.4(RFX6):c.649T>C (p.Ser217Pro) rs267607012
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223
NM_175748.4(UBR7):c.618del (p.Glu207fs) rs1894637828
NM_176806.4(MOCS2):c.-8_15del (p.Met1fs) rs397518417
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176869.3(PPA2):c.182C>T (p.Ser61Phe) rs772083375
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177559.3(CSNK2A1):c.1A>G (p.Met1Val) rs1568532361
NM_177559.3(CSNK2A1):c.466G>C (p.Asp156His) rs1568512728
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_178014.4(TUBB):c.895A>G (p.Met299Val) rs587777355
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_178565.5(RSPO2):c.125del (p.Gly42fs) rs1554579568
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181552.4(CUX1):c.2365del (p.Gln789fs) rs1554519798
NM_181552.4(CUX1):c.2584C>T (p.Gln862Ter) rs1563398977
NM_181552.4(CUX1):c.3164dup (p.Ala1056fs) rs1563446668
NM_181552.4(CUX1):c.3750_3751dup (p.Leu1251fs) rs1563470335
NM_181552.4(CUX1):c.762G>C (p.Arg254Ser)
NM_181783.4(TMTC3):c.199C>G (p.His67Asp) rs754200057
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro) rs764239923
NM_181789.4(GLDN):c.1435C>T (p.Arg479Ter) rs368085516
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_182760.4(SUMF1):c.1A>G (p.Met1Val) rs137852855
NM_182760.4(SUMF1):c.279del (p.Ile94fs) rs2125134167
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) rs121912543
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.264A>G (p.Glu88=) rs2129567228
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter) rs186916831
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile) rs74375534
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs) rs1243172283
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg) rs397514515
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys) rs1567502487
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly) rs137853139
NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys) rs879255245
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) rs121909715
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_198334.3(GANAB):c.152_153del (p.Arg51fs) rs752158933
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp) rs879255643
NM_198514.4(NHLRC2):c.1750del (p.Phe583_Leu584insTer)
NM_198514.4(NHLRC2):c.1A>G (p.Met1Val) rs2134678958
NM_198565.3(NRROS):c.1981del (p.Leu661fs) rs1737685202
NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu) rs793888525
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) rs587777298
NM_198834.3(ACACA):c.6641C>A (p.Pro2214His)
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn) rs2093229974
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352
NM_199342.4(SVBP):c.82C>T (p.Gln28Ter) rs1570520175
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)
NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser) rs121908463
NM_201548.5(CERKL):c.420del (p.Ile141fs) rs398122962
NM_201589.4(MAFA):c.191C>T (p.Ser64Phe) rs1554635488
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812
NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys) rs879255361
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) rs863223276
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter) rs1441358067
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207421.4(PADI6):c.1618G>A (p.Gly540Arg) rs1057517684
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518
NM_207585.3(IFNAR2):c.236del (p.Asp78_Leu79insTer) rs1310889473
NM_212482.4(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.4(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.4(FN1):c.675C>G (p.Cys225Trp) rs1181638652
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) rs1553659131
NM_212552.3(BOLA3):c.220_222del (p.Glu74del) rs1209052568
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val) rs730880031
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.4(RMRP):n.97_98dup rs1340624774
NR_029422.2(RNU12):n.86G>A
Single allele
UGT1A1*28 rs3064744
m.4171C>A rs28616230

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