ClinVar Miner

List of variants reported for not provided by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1901
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HGVS dbSNP gnomAD frequency
NM_004134.7(HSPA9):c.1933C>T (p.Leu645=) rs10117 0.51456
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000552.5(VWF):c.4315G>A (p.Val1439Met) rs150077670 0.00229
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_198514.4(NHLRC2):c.1823C>T (p.Ala608Val) rs150975627 0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
NM_198514.4(NHLRC2):c.1751T>C (p.Leu584Pro) rs144606661 0.00213
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) rs104894319 0.00194
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_001041.4(SI):c.1111G>A (p.Val371Met) rs138434001 0.00165
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_001346249.2(RALGAPA1):c.1819A>G (p.Lys607Glu) rs144614582 0.00143
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_006030.4(CACNA2D2):c.3402A>C (p.Gln1134His) rs150284749 0.00127
NM_020632.3(ATP6V0A4):c.1048A>G (p.Met350Val) rs76977934 0.00126
NM_001101376.3(CFAP144):c.377G>A (p.Trp126Ter) rs149435229 0.00124
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_004333.6(BRAF):c.1433-19A>G rs369635503 0.00114
NM_018960.6(GNMT):c.467A>C (p.His156Pro) rs138085632 0.00094
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) rs144290224 0.00067
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln) rs144971707 0.00055
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_198525.3(KIF7):c.461G>A (p.Arg154Gln) rs180758272 0.00053
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_006904.7(PRKDC):c.11029C>T (p.Pro3677Ser) rs55924155 0.00051
NM_017837.4(PIGV):c.872A>G (p.Asn291Ser) rs147396061 0.00051
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val) rs150531914 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_005787.6(ALG3):c.790C>T (p.Leu264Phe) rs376342417 0.00045
NM_001080414.4(CCDC88C):c.2255A>G (p.Lys752Arg) rs199967225 0.00043
NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys) rs143521873 0.00041
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) rs141181035 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg) rs150050027 0.00036
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_001042545.2(LTBP4):c.4111G>A (p.Gly1371Arg) rs200607327 0.00034
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631 0.00034
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_001042646.3(TRAK1):c.1672G>A (p.Gly558Ser) rs112579771 0.00032
NM_001257096.2(PAX1):c.671A>G (p.Lys224Arg) rs142565607 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser) rs144873582 0.00031
NM_000027.4(AGA):c.979A>G (p.Ser327Gly) rs369035792 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) rs145668112 0.00026
NM_017837.4(PIGV):c.94A>G (p.Ile32Val) rs147565152 0.00026
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu) rs115876786 0.00024
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154 0.00023
NM_014780.5(CUL7):c.2789G>A (p.Ser930Asn) rs61750321 0.00022
NM_004446.3(EPRS1):c.2387G>T (p.Gly796Val) rs200164911 0.00021
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu) rs746812421 0.00020
NM_001098672.2(HEPHL1):c.2968A>C (p.Asn990His) rs200078708 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_015665.6(AAAS):c.996+12C>T rs200312077 0.00019
NM_024105.4(ALG12):c.1239G>C (p.Arg413Ser) rs142027212 0.00019
NM_000338.3(SLC12A1):c.200A>G (p.Gln67Arg) rs139471047 0.00017
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_014806.5(RUSC2):c.2774G>A (p.Arg925Gln) rs141116165 0.00017
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546 0.00016
NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428 0.00016
NM_052859.4(RFT1):c.1101C>T (p.Ser367=) rs139445704 0.00015
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639 0.00014
NM_000550.3(TYRP1):c.92C>G (p.Ala31Gly) rs143705229 0.00013
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779 0.00013
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796 0.00013
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545 0.00012
NM_001365999.1(SZT2):c.3443G>A (p.Arg1148His) rs142611359 0.00012
NM_152713.5(STT3A):c.615+6T>C rs767197223 0.00012
NM_000426.4(LAMA2):c.533C>T (p.Thr178Met) rs148665727 0.00011
NM_000844.4(GRM7):c.1478G>A (p.Arg493His) rs767400612 0.00011
NM_002861.5(PCYT2):c.551G>A (p.Arg184Gln) rs200287081 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_001130823.3(DNMT1):c.1287C>T (p.Tyr429=) rs536069799 0.00010
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr) rs782767733 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His) rs377325321 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000429.3(MAT1A):c.527T>A (p.Leu176Gln) rs769846362 0.00009
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) rs767366742 0.00009
NM_006901.4(MYO9A):c.6931T>G (p.Leu2311Val) rs149312322 0.00009
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser) rs201230315 0.00009
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282 0.00008
NM_001377299.1(NDUFS2):c.911A>C (p.Lys304Thr) rs149901957 0.00008
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452 0.00008
NM_033026.6(PCLO):c.6452G>C (p.Arg2151Thr) rs199827159 0.00008
NM_152743.4(BRAT1):c.1487A>G (p.Gln496Arg) rs142667367 0.00008
NM_182961.4(SYNE1):c.7052G>A (p.Ser2351Asn) rs151039167 0.00008
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_004446.3(EPRS1):c.1745A>G (p.Asn582Ser) rs138546345 0.00007
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=) rs373022042 0.00007
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_001606.5(ABCA2):c.1625G>C (p.Arg542Thr) rs369680440 0.00006
NM_005883.3(APC2):c.6319G>T (p.Val2107Leu) rs1042889264 0.00006
NM_006005.3(WFS1):c.862-3C>G rs201889635 0.00006
NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys) rs895237537 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152743.4(BRAT1):c.1039G>A (p.Asp347Asn) rs144499760 0.00006
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) rs747529593 0.00005
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter) rs778220325 0.00005
NM_000687.4(AHCY):c.739A>G (p.Ile247Val) rs371055374 0.00005
NM_001041.4(SI):c.2074C>T (p.Arg692Cys) rs371618948 0.00005
NM_001378615.1(CC2D2A):c.845A>C (p.Glu282Ala) rs760099299 0.00005
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys) rs764563027 0.00005
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro) rs146343535 0.00005
NM_004606.5(TAF1):c.3227+8G>A rs373273976 0.00005
NM_005529.7(HSPG2):c.764C>T (p.Pro255Leu) rs369712921 0.00005
NM_014669.5(NUP93):c.397A>G (p.Met133Val) rs149086354 0.00005
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser) rs777227521 0.00005
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) rs747965749 0.00005
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153 0.00004
NM_000387.6(SLC25A20):c.160G>T (p.Gly54Trp) rs1035610382 0.00004
NM_000387.6(SLC25A20):c.163A>G (p.Thr55Ala) rs1002978497 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_001098519.2(LRRC43):c.181C>T (p.Arg61Ter) rs200229491 0.00004
NM_001098672.2(HEPHL1):c.2857C>T (p.Arg953Ter) rs542337286 0.00004
NM_001170700.3(DTHD1):c.1310G>T (p.Gly437Val) rs1056021890 0.00004
NM_001195518.2(MICU1):c.161+1G>A rs375502236 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001556.3(IKBKB):c.2119G>A (p.Glu707Lys) rs753511458 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_004667.6(HERC2):c.406T>G (p.Ser136Ala) rs751003786 0.00004
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg) rs1342469676 0.00004
NM_005687.5(FARSB):c.467T>G (p.Leu156Arg) rs201927592 0.00004
NM_005876.5(SPEG):c.5891A>G (p.Glu1964Gly) rs55760738 0.00004
NM_006267.5(RANBP2):c.5948A>G (p.Tyr1983Cys) rs760219310 0.00004
NM_007118.4(TRIO):c.949C>T (p.Arg317Trp) rs368654118 0.00004
NM_014806.5(RUSC2):c.4450T>C (p.Trp1484Arg) rs762700848 0.00004
NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg) rs750922939 0.00004
NM_024757.5(EHMT1):c.674G>A (p.Arg225Gln) rs1294543188 0.00004
NM_024996.7(GFM1):c.720del (p.Glu241fs) rs745718158 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser) rs767508394 0.00004
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000080.4(CHRNE):c.1032+25C>T rs906186521 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_000206.3(IL2RG):c.821T>C (p.Ile274Thr) rs370677485 0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_001379200.1(TBX1):c.305G>A (p.Cys102Tyr) rs948722131 0.00003
NM_001844.5(COL2A1):c.2462C>T (p.Pro821Leu) rs201963052 0.00003
NM_002524.5(NRAS):c.562G>A (p.Val188Met) rs730880381 0.00003
NM_002755.4(MAP2K1):c.693+10G>A rs377034924 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_003491.4(NAA10):c.614G>A (p.Ser205Asn) rs1488037536 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004333.6(BRAF):c.240+11G>A rs730880379 0.00003
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val) rs374447921 0.00003
NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu) rs758194735 0.00003
NM_017668.3(NDE1):c.948-3357C>T rs376779423 0.00003
NM_021120.4(DLG3):c.2243T>C (p.Ile748Thr) rs1234828740 0.00003
NM_021813.4(BACH2):c.1586C>T (p.Ala529Val) rs576225753 0.00003
NM_022455.5(NSD1):c.3764G>A (p.Ser1255Asn) rs1389749444 0.00003
NM_130466.4(UBE3B):c.61G>T (p.Glu21Ter) rs775981553 0.00003
NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp) rs483352766 0.00003
NM_145207.3(AFG2A):c.2074A>G (p.Ile692Val) rs370427695 0.00003
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser) rs149624155 0.00003
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr) rs587781595 0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 0.00002
NM_000303.3(PMM2):c.447+5G>A rs367852554 0.00002
NM_000330.4(RS1):c.184+3171C>T rs727503848 0.00002
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073 0.00002
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val) rs75048006 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_001099922.3(ALG13):c.834+3A>G rs370066652 0.00002
NM_001128840.3(CACNA1D):c.1618A>G (p.Ile540Val) rs200258942 0.00002
NM_001165963.4(SCN1A):c.3161T>G (p.Leu1054Arg) rs985473996 0.00002
NM_001244189.2(KIAA0586):c.9+1G>A rs1490434047 0.00002
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs) rs752788954 0.00002
NM_001365999.1(SZT2):c.3809A>G (p.Gln1270Arg) rs771793753 0.00002
NM_001368397.1(FRMPD4):c.3889G>C (p.Ala1297Pro) rs754514737 0.00002
NM_001376571.1(MADD):c.4048G>A (p.Asp1350Asn) rs754363453 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001382567.1(STIM1):c.871A>G (p.Asn291Asp) rs201523207 0.00002
NM_002161.6(IARS1):c.419G>A (p.Arg140Gln) rs747654531 0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_004187.5(KDM5C):c.2448G>C (p.Lys816Asn) rs1556839520 0.00002
NM_004187.5(KDM5C):c.3508G>T (p.Ala1170Ser) rs1268423491 0.00002
NM_004606.5(TAF1):c.880A>G (p.Asn294Asp) rs769951106 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004667.6(HERC2):c.2236C>T (p.Arg746Cys) rs1043175459 0.00002
NM_014159.7(SETD2):c.603A>G (p.Thr201=) rs2043221625 0.00002
NM_018646.6(TRPV6):c.1765G>A (p.Val589Met) rs764407610 0.00002
NM_031407.7(HUWE1):c.8809G>A (p.Gly2937Arg) rs1370251359 0.00002
NM_153676.4(USH1C):c.310G>C (p.Gly104Arg) rs1387867750 0.00002
NM_178229.5(IQGAP3):c.4762C>T (p.Arg1588Ter) rs202051702 0.00002
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro) rs775400380 0.00001
NM_000047.3(ARSL):c.109C>T (p.Arg37Ter) rs754885040 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000070.3(CAPN3):c.614T>C (p.Leu205Pro) rs1001356986 0.00001
NM_000091.5(COL4A3):c.86A>T (p.Lys29Met) rs999240932 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000182.5(HADHA):c.356T>C (p.Leu119Pro) rs1215122127 0.00001
NM_000238.4(KCNH2):c.2530A>G (p.Met844Val) rs754565340 0.00001
NM_000254.3(MTR):c.1771C>T (p.Arg591Ter) rs777459947 0.00001
NM_000256.3(MYBPC3):c.1227-9C>A rs11570079 0.00001
NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn) rs778851720 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000264.5(PTCH1):c.2740A>G (p.Ile914Val) rs1441750517 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000368.5(TSC1):c.2503-21T>C rs118203703 0.00001
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg) rs863223503 0.00001
NM_000429.3(MAT1A):c.538_539insTG (p.Ser180fs) rs944263459 0.00001
NM_000429.3(MAT1A):c.655C>T (p.Arg219Cys) rs1038206403 0.00001
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp) rs1557119999 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000540.3(RYR1):c.8441A>G (p.Lys2814Arg) rs759717284 0.00001
NM_000702.4(ATP1A2):c.1540C>T (p.Arg514Trp) rs781474239 0.00001
NM_001005273.3(CHD3):c.341A>C (p.Lys114Thr) rs376670741 0.00001
NM_001008216.2(GALE):c.895C>T (p.Arg299Trp) rs971777704 0.00001
NM_001009944.3(PKD1):c.709C>G (p.Pro237Ala) rs1350910449 0.00001
NM_001009944.3(PKD1):c.8116A>C (p.Thr2706Pro) rs1430379983 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001040142.2(SCN2A):c.3434C>T (p.Thr1145Met) rs796053128 0.00001
NM_001040142.2(SCN2A):c.818A>G (p.Asn273Ser) rs1697366709 0.00001
NM_001041.4(SI):c.3266G>A (p.Trp1089Ter) rs774109373 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042646.3(TRAK1):c.1794G>A (p.Gly598=) rs766797323 0.00001
NM_001042681.2(RERE):c.899A>C (p.Gln300Pro) rs1243371415 0.00001
NM_001079668.3(NKX2-1):c.316C>T (p.Pro106Ser) rs746531863 0.00001
NM_001083116.3(PRF1):c.706C>T (p.Leu236Phe) rs1373180931 0.00001
NM_001099433.2(JAKMIP1):c.1471C>A (p.Leu491Met) rs547846737 0.00001
NM_001101.5(ACTB):c.94C>T (p.Pro32Ser) rs779839358 0.00001
NM_001113491.2(SEPTIN9):c.367G>A (p.Gly123Arg) rs1193204367 0.00001
NM_001122630.2(CDKN1C):c.-10-13C>T rs201368350 0.00001
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter) rs724159969 0.00001
NM_001145358.2(SIN3A):c.7C>A (p.Arg3=) rs1284838849 0.00001
NM_001197104.2(KMT2A):c.5256A>C (p.Lys1752Asn) rs1555043352 0.00001
NM_001220.5(CAMK2B):c.1210G>A (p.Asp404Asn) rs936218134 0.00001
NM_001267550.2(TTN):c.28154G>A (p.Ser9385Asn) rs945228543 0.00001
NM_001267550.2(TTN):c.30269G>A (p.Ser10090Asn) rs2075204317 0.00001
NM_001273.5(CHD4):c.1486C>G (p.Pro496Ala) rs1226303367 0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001287491.2(TET3):c.1395G>T (p.Gln465His) rs747719049 0.00001
NM_001303052.2(MYT1L):c.1947C>T (p.Asn649=) rs765607514 0.00001
NM_001330700.2(TOP2B):c.4208C>G (p.Thr1403Arg) rs1343214280 0.00001
NM_001365.5(DLG4):c.109G>A (p.Ala37Thr) rs372479041 0.00001
NM_001368397.1(FRMPD4):c.1778G>A (p.Arg593Gln) rs2042078311 0.00001
NM_001371928.1(AHDC1):c.4031T>C (p.Ile1344Thr) rs1467982801 0.00001
NM_001371928.1(AHDC1):c.4562T>C (p.Met1521Thr) rs1363372692 0.00001
NM_001374353.1(GLI2):c.841C>A (p.Leu281Ile) rs1558923649 0.00001
NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser) rs797045273 0.00001
NM_001375524.1(TRRAP):c.450+859A>G rs1027351299 0.00001
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro) rs1555061205 0.00001
NM_001377935.1(RAPGEF1):c.1505A>G (p.Tyr502Cys) rs893752079 0.00001
NM_001378418.1(TCF20):c.2521A>G (p.Ile841Val) rs758213121 0.00001
NM_001379451.1(BCORL1):c.3287T>C (p.Val1096Ala) rs1428613386 0.00001
NM_001386298.1(CIC):c.6920C>T (p.Thr2307Met) rs1472569077 0.00001
NM_001395656.1(ROBO2):c.712G>A (p.Glu238Lys) rs781112706 0.00001
NM_001510.4(GRID2):c.1913G>A (p.Trp638Ter) rs1470494014 0.00001
NM_001733.7(C1R):c.1926C>G (p.His642Gln) rs1424171711 0.00001
NM_001999.4(FBN2):c.3982G>T (p.Glu1328Ter) rs1750792951 0.00001
NM_002025.4(AFF2):c.2903T>C (p.Ile968Thr) rs782123832 0.00001
NM_002225.5(IVD):c.124C>G (p.Leu42Val) rs777674887 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002968.3(SALL1):c.373A>G (p.Met125Val) rs1017987206 0.00001
NM_002972.4(SBF1):c.4513T>G (p.Phe1505Val) rs1322288085 0.00001
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys) rs774326531 0.00001
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu) rs756868798 0.00001
NM_004595.5(SMS):c.997G>C (p.Gly333Arg) rs1200431087 0.00001
NM_004606.5(TAF1):c.802C>T (p.Arg268Cys) rs1399230018 0.00001
NM_004818.3(DDX23):c.1583G>A (p.Arg528His) rs1938420751 0.00001
NM_004859.4(CLTC):c.2503G>A (p.Val835Ile) rs373696281 0.00001
NM_004859.4(CLTC):c.368C>T (p.Thr123Met) rs1347364344 0.00001
NM_004975.4(KCNB1):c.*5139C>T rs1422393130 0.00001
NM_005026.5(PIK3CD):c.2488C>T (p.Arg830Cys) rs554743340 0.00001
NM_005045.4(RELN):c.6950T>C (p.Ile2317Thr) rs1469133138 0.00001
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=) rs145357714 0.00001
NM_005787.6(ALG3):c.1108T>C (p.Tyr370His) rs377073728 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006015.6(ARID1A):c.2172G>A (p.Met724Ile) rs2080990682 0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter) rs151278283 0.00001
NM_006307.5(SRPX):c.9C>A (p.Ser3Arg) rs1485230353 0.00001
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr) rs1017082606 0.00001
NM_006662.3(SRCAP):c.1279G>A (p.Val427Met) rs140083344 0.00001
NM_006766.5(KAT6A):c.4841G>A (p.Ser1614Asn) rs1198819132 0.00001
NM_006767.4(LZTR1):c.1387G>A (p.Val463Ile) rs1269398431 0.00001
NM_006767.4(LZTR1):c.1786G>A (p.Glu596Lys) rs1035245166 0.00001
NM_006852.6(TLK2):c.1499A>G (p.Asp500Gly) rs757207258 0.00001
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys) rs577018955 0.00001
NM_007118.4(TRIO):c.7874C>T (p.Thr2625Ile) rs375286965 0.00001
NM_007118.4(TRIO):c.9112C>T (p.Arg3038Cys) rs1321773037 0.00001
NM_007325.5(GRIA3):c.403G>A (p.Val135Met) rs371539507 0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_014141.6(CNTNAP2):c.700G>T (p.Asp234Tyr) rs867768148 0.00001
NM_014159.7(SETD2):c.435G>C (p.Lys145Asn) rs749274416 0.00001
NM_014233.4(UBTF):c.185A>G (p.Asp62Gly) rs1353983503 0.00001
NM_014271.4(IL1RAPL1):c.730C>T (p.Leu244Phe) rs1180304506 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014694.4(ADAMTSL2):c.-151+2T>C rs1432091144 0.00001
NM_014780.5(CUL7):c.2658C>T (p.Ile886=) rs1169246368 0.00001
NM_015001.3(SPEN):c.5125G>A (p.Asp1709Asn) rs753992826 0.00001
NM_015015.3(KDM4B):c.3059G>A (p.Arg1020His) rs560822471 0.00001
NM_015404.4(WHRN):c.2284G>A (p.Glu762Lys) rs757731586 0.00001
NM_015466.4(PTPN23):c.1457C>T (p.Thr486Ile) rs1255328419 0.00001
NM_016035.5(COQ4):c.300-2A>G rs141303335 0.00001
NM_016148.5(SHANK1):c.4022C>T (p.Pro1341Leu) rs1027712825 0.00001
NM_017613.4(DONSON):c.1032C>T (p.Ser344=) rs368570176 0.00001
NM_017677.4(MTMR8):c.154C>G (p.Leu52Val) rs759868972 0.00001
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122 0.00001
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter) rs140696201 0.00001
NM_018023.5(YEATS2):c.2060T>C (p.Val687Ala) rs762708818 0.00001
NM_018489.3(ASH1L):c.575C>T (p.Thr192Met) rs753568698 0.00001
NM_018960.6(GNMT):c.767T>C (p.Leu256Pro) rs754695157 0.00001
NM_019024.3(HEATR5B):c.1549C>T (p.Gln517Ter) rs1311843523 0.00001
NM_019066.5(MAGEL2):c.1496C>G (p.Pro499Arg) rs1890399277 0.00001
NM_019842.4(KCNQ5):c.89G>A (p.Gly30Glu) rs756542782 0.00001
NM_020708.5(SLC12A5):c.916G>A (p.Ala306Thr) rs2084545554 0.00001
NM_020717.5(SHROOM4):c.3207C>A (p.Ser1069Arg) rs1324837830 0.00001
NM_020719.3(PRR12):c.4133C>T (p.Pro1378Leu) rs1260712719 0.00001
NM_021008.4(DEAF1):c.47C>T (p.Ala16Val) rs1180174990 0.00001
NM_021120.4(DLG3):c.390G>C (p.Glu130Asp) rs182297323 0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) rs777306476 0.00001
NM_025216.3(WNT10A):c.652A>G (p.Met218Val) rs373991357 0.00001
NM_030624.3(KLHL15):c.1460A>G (p.Asn487Ser) rs146866972 0.00001
NM_030632.3(ASXL3):c.2047A>G (p.Ile683Val) rs1222579256 0.00001
NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu) rs1430366832 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys) rs376175156 0.00001
NM_130837.3(OPA1):c.789+2T>C rs1731099484 0.00001
NM_133433.4(NIPBL):c.4678C>T (p.Pro1560Ser) rs150683463 0.00001
NM_133433.4(NIPBL):c.4901T>C (p.Ile1634Thr) rs1343267889 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_152743.4(BRAT1):c.1521A>C (p.Lys507Asn) rs1442646274 0.00001
NM_153252.5(BRWD3):c.4645G>A (p.Val1549Ile) rs779958182 0.00001
NM_170606.3(KMT2C):c.12506C>G (p.Pro4169Arg) rs762116501 0.00001
NM_175614.5(NDUFA11):c.323A>T (p.Tyr108Phe) rs770353684 0.00001
NM_182641.4(BPTF):c.6887A>G (p.Gln2296Arg) rs1473357921 0.00001
NM_182710.3(KAT5):c.1568A>G (p.Lys523Arg) rs1332750183 0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_201384.3(PLEC):c.5392G>A (p.Glu1798Lys) rs782227367 0.00001
NM_201599.3(ZMYM3):c.1321C>T (p.Arg441Trp) rs587777358 0.00001
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu) rs1176215017 0.00001
NM_000027.4(AGA):c.55G>A (p.Ala19Thr)
NM_000031.6(ALAD):c.589A>C (p.Ser197Arg)
NM_000036.3(AMPD1):c.1330G>A (p.Val444Ile)
NM_000052.7(ATP7A):c.2444T>C (p.Leu815Pro)
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000062.3(SERPING1):c.979_980delinsGTGCC (p.Ser327delinsValPro) rs1945411643
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer) rs2023146719
NM_000088.4(COL1A1):c.1538C>T (p.Ser513Phe)
NM_000088.4(COL1A1):c.1748C>G (p.Pro583Arg) rs1401682206
NM_000088.4(COL1A1):c.3871_3883delinsGT (p.Cys1291fs) rs2144534853
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=) rs369557944
NM_000091.5(COL4A3):c.4028-15T>C rs764478470
NM_000124.4(ERCC6):c.1669C>T (p.Arg557Cys)
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr) rs374945563
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu) rs2141317175
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val) rs2141252254
NM_000138.5(FBN1):c.8211T>G (p.Asp2737Glu)
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000142.5(FGFR3):c.1108G>A (p.Gly370Ser)
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.546+5G>A
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000183.3(HADHB):c.260T>C (p.Leu87Ser) rs1171889657
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000222.3(KIT):c.21_22del (p.Trp8fs) rs2109520891
NM_000240.3(MAOA):c.-566C>T
NM_000243.3(MEFV):c.1759+1G>A rs876660996
NM_000263.4(NAGLU):c.30_31insATCATATT (p.Gly11fs) rs2092905757
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=) rs1060504538
NM_000271.5(NPC1):c.1346C>T (p.Ala449Val)
NM_000271.5(NPC1):c.440A>T (p.Tyr147Phe)
NM_000271.5(NPC1):c.67del (p.Gln23fs) rs886043131
NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys)
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000284.4(PDHA1):c.1043A>T (p.Asp348Val)
NM_000284.4(PDHA1):c.133C>G (p.Arg45Gly)
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2670G>A (p.Glu890=) rs2110150904
NM_000321.3(RB1):c.861+1G>T rs2138112893
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.2628G>C (p.Glu876Asp)
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000342.4(SLC4A1):c.1283-3del
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000388.4(CASR):c.442G>A (p.Gly148Ser)
NM_000388.4(CASR):c.664G>A (p.Gly222Arg) rs2107632066
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
NM_000414.4(HSD17B4):c.1484A>G (p.Asp495Gly) rs755720085
NM_000419.5(ITGA2B):c.1196G>A (p.Arg399Gln)
NM_000429.3(MAT1A):c.62C>T (p.Thr21Ile) rs2132712126
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000453.3(SLC5A5):c.1126C>T (p.Arg376Trp)
NM_000453.3(SLC5A5):c.969+933C>T
NM_000478.6(ALPL):c.1360C>T (p.His454Tyr) rs2148194615
NM_000489.6(ATRX):c.1507C>G (p.Gln503Glu)
NM_000489.6(ATRX):c.3649G>T (p.Gly1217Cys) rs781917332
NM_000489.6(ATRX):c.5012G>A (p.Arg1671Lys)
NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val) rs2066171841
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000501.4(ELN):c.1747G>A (p.Val583Ile)
NM_000503.6(EYA1):c.682_686dup (p.Tyr230fs) rs2128999992
NM_000506.5(F2):c.533G>T (p.Arg178Met) rs2134528259
NM_000516.7(GNAS):c.756C>A (p.Ser252Arg) rs2146284866
NM_000521.4(HEXB):c.1541G>T (p.Trp514Leu)
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) rs1670224976
NM_000533.5(PLP1):c.749C>T (p.Thr250Ile)
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000548.5(TSC2):c.1444G>C (p.Glu482Gln) rs1308965961
NM_000548.5(TSC2):c.2308C>A (p.Leu770Met) rs762215859
NM_000548.5(TSC2):c.3506C>T (p.Ala1169Val)
NM_000548.5(TSC2):c.613C>T (p.Leu205=) rs1596275276
NM_000550.3(TYRP1):c.170G>A (p.Gly57Asp) rs750211503
NM_000552.5(VWF):c.5293G>T (p.Gly1765Ter) rs1268910016
NM_000557.5(GDF5):c.1333A>C (p.Asn445His) rs2146578449
NM_000719.7(CACNA1C):c.4004G>C (p.Arg1335Pro)
NM_000721.4(CACNA1E):c.5590A>T (p.Thr1864Ser) rs2102844943
NM_000786.4(CYP51A1):c.316A>G (p.Met106Val)
NM_000786.4(CYP51A1):c.468+1G>A
NM_000807.4(GABRA2):c.923C>T (p.Ala308Val) rs2109351550
NM_000810.4(GABRA5):c.1058G>T (p.Gly353Val) rs1437683141
NM_000827.4(GRIA1):c.2527del (p.Cys843fs) rs1766777889
NM_000828.5(GRIA3):c.2337C>A (p.Asn779Lys)
NM_000829.4(GRIA4):c.*1298C>T
NM_000829.4(GRIA4):c.1661C>T (p.Ala554Val)
NM_000836.4(GRIN2D):c.446C>T (p.Ala149Val) rs935135704
NM_000875.5(IGF1R):c.1690C>T (p.Pro564Ser)
NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs) rs1322503729
NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro) rs121912563
NM_000937.5(POLR2A):c.2458C>T (p.Arg820Cys)
NM_000937.5(POLR2A):c.3700A>G (p.Lys1234Glu) rs2150887735
NM_000937.5(POLR2A):c.5885G>T (p.Ser1962Ile)
NM_000944.5(PPP3CA):c.1370-8C>G
NM_000964.4(RARA):c.827G>A (p.Arg276Gln) rs2034543510
NM_001001331.4(ATP2B2):c.1427A>G (p.Lys476Arg)
NM_001001331.4(ATP2B2):c.3599C>T (p.Ser1200Leu)
NM_001001344.3(ATP2B3):c.2625+3_2625+6del rs2124485656
NM_001003694.2(BRPF1):c.1255C>A (p.Leu419Ile)
NM_001003694.2(BRPF1):c.306C>G (p.Asp102Glu) rs2076906418
NM_001003694.2(BRPF1):c.3558dup (p.Lys1187fs) rs2125517980
NM_001003699.4(RREB1):c.2765C>G (p.Pro922Arg)
NM_001003699.4(RREB1):c.3695_3696dup (p.Arg1233Ter) rs2113124354
NM_001003699.4(RREB1):c.3713C>T (p.Ser1238Leu)
NM_001004127.3(ALG11):c.1302_1305dup (p.Gly436fs)
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) rs1064794465
NM_001004309.3(ZNF774):c.515C>T (p.Thr172Ile) rs1567102251
NM_001005273.3(CHD3):c.301C>T (p.Arg101Trp)
NM_001005273.3(CHD3):c.3655T>G (p.Ser1219Ala) rs2151604360
NM_001005273.3(CHD3):c.5339C>T (p.Ala1780Val) rs2151661582
NM_001006607.3(LRRC37A2):c.2907-1784C>T
NM_001007.5(RPS4X):c.203G>A (p.Arg68Gln)
NM_001007527.2(LMBRD2):c.1151G>A (p.Trp384Ter) rs2111863749
NM_001007527.2(LMBRD2):c.1599T>A (p.Tyr533Ter)
NM_001007527.2(LMBRD2):c.1844A>C (p.Asn615Thr)
NM_001007527.2(LMBRD2):c.537-1G>A
NM_001007553.3(CSDE1):c.247A>G (p.Ile83Val) rs1660500947
NM_001007553.3(CSDE1):c.309+4A>G rs1660494528
NM_001007559.3(SS18):c.1051C>T (p.Gln351Ter) rs2143854272
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.6130A>G (p.Asn2044Asp)
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.8705A>G (p.Gln2902Arg)
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val)
NM_001012614.2(CTBP1):c.154C>T (p.His52Tyr) rs2108786061
NM_001013839.4(EXOC7):c.514G>T (p.Asp172Tyr)
NM_001013839.4(EXOC7):c.901+701C>G
NM_001014809.3(CRMP1):c.214_236del (p.Ala72fs)
NM_001020658.2(PUM1):c.1972A>C (p.Ser658Arg)
NM_001022.4(RPS19):c.172+907A>G
NM_001022.4(RPS19):c.351A>G (p.Gln117=)
NM_001024630.4(RUNX2):c.380C>G (p.Pro127Arg) rs2150362645
NM_001031684.3(SRSF7):c.289C>G (p.Arg97Gly)
NM_001031710.3(KLHL7):c.562A>T (p.Lys188Ter) rs2128464395
NM_001031855.3(LONRF3):c.242G>A (p.Gly81Glu)
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val) rs1554778420
NM_001039469.3(MARK2):c.404-2A>C
NM_001039591.3(USP9X):c.1763+10T>C rs2147075143
NM_001039591.3(USP9X):c.3844G>A (p.Glu1282Lys)
NM_001039753.4(EML6):c.4996G>T (p.Gly1666Ter)
NM_001040142.2(SCN2A):c.2884G>A (p.Val962Ile)
NM_001040142.2(SCN2A):c.5677T>A (p.Tyr1893Asn) rs1702040004
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=) rs1162322343
NM_001040272.6(ADAMTSL1):c.164A>G (p.Tyr55Cys)
NM_001040616.3(LINS1):c.1186_1187delinsCC (p.Lys396Pro)
NM_001040616.3(LINS1):c.281C>T (p.Thr94Ile)
NM_001041.4(SI):c.4406+39T>G
NM_001042424.3(NSD2):c.1934A>T (p.Asp645Val)
NM_001042492.3(NF1):c.1393-1G>T rs1131691131
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.2964dup (p.Glu989Ter) rs2067084803
NM_001042492.3(NF1):c.4262C>G (p.Pro1421Arg) rs753997885
NM_001042492.3(NF1):c.4333-2A>G rs1555618634
NM_001042492.3(NF1):c.4577+2dup rs2067666266
NM_001042492.3(NF1):c.487G>T (p.Glu163Ter) rs2065903080
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5072A>G (p.Lys1691Arg) rs863224661
NM_001042492.3(NF1):c.5785G>T (p.Glu1929Ter) rs2069454068
NM_001042492.3(NF1):c.7161C>G (p.Asn2387Lys) rs1555535444
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs) rs2151581134
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser) rs587781791
NM_001042681.2(RERE):c.1079A>G (p.Asp360Gly) rs2124233040
NM_001042681.2(RERE):c.2669C>T (p.Ala890Val)
NM_001042681.2(RERE):c.2689T>A (p.Ser897Thr)
NM_001042681.2(RERE):c.326-3A>T
NM_001042681.2(RERE):c.3436C>T (p.Arg1146Trp) rs1178020687
NM_001042681.2(RERE):c.4218G>A (p.Met1406Ile) rs2124359266
NM_001042681.2(RERE):c.4396G>C (p.Ala1466Pro) rs1641285492
NM_001046.3(SLC12A2):c.268G>C (p.Ala90Pro)
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.40-1092C>T
NM_001069.3(TUBB2A):c.31C>G (p.Gln11Glu) rs2113787768
NM_001077207.4(SEC31A):c.1457G>A (p.Arg486His)
NM_001077207.4(SEC31A):c.251A>G (p.Asp84Gly)
NM_001079559.3(HNRNPUL2):c.635G>A (p.Arg212Gln)
NM_001079872.2(CUL4B):c.2607G>C (p.Lys869Asn)
NM_001080419.3(UNK):c.961C>T (p.Gln321Ter) rs2143796334
NM_001080421.3(UNC13A):c.3249C>G (p.Ser1083Arg) rs774668042
NM_001080453.3(INTS1):c.1855G>T (p.Glu619Ter) rs1456894020
NM_001080453.3(INTS1):c.2178G>A (p.Pro726=) rs542331846
NM_001080495.3(TNRC18):c.1756C>T (p.Gln586Ter) rs2128192991
NM_001080517.3(SETD5):c.3221G>C (p.Arg1074Pro) rs2125606151
NM_001081550.2(THOC2):c.2870A>G (p.Lys957Arg)
NM_001081550.2(THOC2):c.28G>T (p.Ala10Ser)
NM_001081550.2(THOC2):c.2992C>T (p.Arg998Cys)
NM_001081550.2(THOC2):c.3341C>G (p.Thr1114Arg)
NM_001083619.3(GRIA2):c.1126A>G (p.Met376Val) rs2126933265
NM_001083619.3(GRIA2):c.1849C>T (p.Leu617Phe)
NM_001083619.3(GRIA2):c.2059G>T (p.Val687Leu)
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001093725.2(MEX3A):c.1A>C (p.Met1Leu)
NM_001098204.2(HNRNPF):c.635G>C (p.Arg212Pro)
NM_001098511.3(KIF2A):c.259A>C (p.Lys87Gln) rs2111910183
NM_001098519.2(LRRC43):c.229G>T (p.Gly77Ter) rs750177453
NM_001099402.2(CCNK):c.451A>G (p.Ile151Val)
NM_001099922.3(ALG13):c.2288G>C (p.Gly763Ala)
NM_001100.4(ACTA1):c.583C>G (p.Leu195Val) rs2102735872
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101376.3(CFAP144):c.298A>G (p.Ile100Val)
NM_001103146.3(GIGYF2):c.3099+1G>T
NM_001104631.2(PDE4D):c.398G>A (p.Arg133Gln)
NM_001105537.4(ZNF142):c.3406C>G (p.His1136Asp) rs373958230
NM_001105562.3(UBE4B):c.3292del (p.His1098fs)
NM_001105574.2(HMX3):c.137C>G (p.Pro46Arg) rs763081574
NM_001110556.2(FLNA):c.4042C>T (p.Pro1348Ser) rs782628781
NM_001110556.2(FLNA):c.4936A>G (p.Thr1646Ala)
NM_001110792.2(MECP2):c.385_388delinsTCCT (p.Ala129_Gly130delinsSerTrp) rs2148666395
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe) rs2065991510
NM_001111125.3(IQSEC2):c.3452-51G>A
NM_001111125.3(IQSEC2):c.4372C>A (p.His1458Asn) rs2147000170
NM_001111125.3(IQSEC2):c.681C>T (p.Thr227=) rs2146548006
NM_001112.4(ADARB1):c.730C>G (p.Arg244Gly)
NM_001112741.2(KCNC1):c.1690_1691del (p.Lys564fs)
NM_001114183.2(GRIA1):c.1523C>A (p.Pro508Gln) rs2149520942
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001122659.3(EDNRB):c.500G>C (p.Trp167Ser)
NM_001122772.3(AGAP2):c.1357C>T (p.His453Tyr)
NM_001122955.4(BSCL2):c.54C>A (p.Cys18Ter)
NM_001123385.2(BCOR):c.3490C>T (p.Arg1164Ter) rs1935080744
NM_001127222.2(CACNA1A):c.4448G>A (p.Arg1483His)
NM_001127222.2(CACNA1A):c.6839G>T (p.Arg2280Leu)
NM_001128159.3(VPS53):c.1396G>A (p.Ala466Thr)
NM_001128849.3(SMARCA4):c.1930G>A (p.Glu644Lys) rs2146099035
NM_001130438.3(SPTAN1):c.6869A>G (p.His2290Arg) rs2132089221
NM_001130438.3(SPTAN1):c.6986C>T (p.Ala2329Val)
NM_001130438.3(SPTAN1):c.7031A>G (p.Lys2344Arg)
NM_001130528.3(SPAG9):c.2191C>T (p.Gln731Ter)
NM_001134382.3(IQSEC1):c.1470dup (p.Tyr491fs) rs2125304158
NM_001134407.3(GRIN2A):c.104A>C (p.Asn35Thr)
NM_001134407.3(GRIN2A):c.2783G>T (p.Gly928Val) rs2141137106
NM_001134407.3(GRIN2A):c.3154C>T (p.Leu1052Phe)
NM_001134407.3(GRIN2A):c.3936C>A (p.Ser1312Arg) rs267604685
NM_001134407.3(GRIN2A):c.4076C>T (p.Pro1359Leu)
NM_001134673.4(NFIA):c.343C>T (p.Arg115Ter)
NM_001135651.3(EIF2AK2):c.770A>G (p.Tyr257Cys)
NM_001136035.4(TRMT1):c.1485C>G (p.Leu495=)
NM_001136035.4(TRMT1):c.235G>A (p.Glu79Lys)
NM_001136035.4(TRMT1):c.328_330del (p.Lys110del)
NM_001142864.4(PIEZO1):c.5224GTC[1] (p.Val1743del)
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001142966.3(GREB1L):c.3511G>A (p.Ala1171Thr)
NM_001144774.3(ELAVL4):c.540T>G (p.Phe180Leu) rs2148885667
NM_001144937.3(FNDC7):c.913G>C (p.Val305Leu)
NM_001144958.2(CRACR2A):c.1019C>T (p.Ala340Val)
NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter) rs1444395453
NM_001160036.2(RHOBTB2):c.2T>C (p.Met1Thr)
NM_001161352.2(KCNMA1):c.1440+2del
NM_001161352.2(KCNMA1):c.1486G>T (p.Ala496Ser)
NM_001162501.2(TNRC6B):c.1772G>A (p.Arg591Gln) rs2070473790
NM_001162501.2(TNRC6B):c.3163A>G (p.Asn1055Asp) rs2146517455
NM_001162501.2(TNRC6B):c.4454C>T (p.Pro1485Leu)
NM_001162501.2(TNRC6B):c.4663G>A (p.Val1555Ile) rs1466157006
NM_001162501.2(TNRC6B):c.4974+2T>C rs2146570387
NM_001162501.2(TNRC6B):c.659G>A (p.Ser220Asn) rs2146498341
NM_001163435.3(TBCK):c.2044_2048del (p.Phe682fs) rs778000956
NM_001164760.2(PRKAR1B):c.522C>G (p.Phe174Leu)
NM_001165963.4(SCN1A):c.3705+6T>C rs1692854443
NM_001165963.4(SCN1A):c.383+5C>A rs1060502185
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368
NM_001165963.4(SCN1A):c.5972del (p.Lys1991fs) rs1388173033
NM_001165963.4(SCN1A):c.808A>G (p.Met270Val)
NM_001170629.2(CHD8):c.1550A>C (p.Lys517Thr)
NM_001170629.2(CHD8):c.5051+4A>G rs2139456918
NM_001170629.2(CHD8):c.6240A>G (p.Pro2080=)
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
NM_001171.6(ABCC6):c.221T>A (p.Val74Glu) rs2141220850
NM_001182.5(ALDH7A1):c.1600C>T (p.Gln534Ter) rs2112743884
NM_001190274.2(FBXO11):c.1032G>A (p.Met344Ile)
NM_001190737.2(NFIB):c.31-12T>A
NM_001193511.2(MAP3K12):c.389_390del (p.Pro130fs)
NM_001195553.2(DCX):c.799del (p.Asp267fs) rs2147635206
NM_001197104.2(KMT2A):c.2986T>C (p.Ser996Pro) rs1949992868
NM_001197104.2(KMT2A):c.3149A>G (p.Lys1050Arg)
NM_001197104.2(KMT2A):c.3634+4G>C rs367948360
NM_001197104.2(KMT2A):c.3980C>T (p.Pro1327Leu) rs1950142752
NM_001197104.2(KMT2A):c.4666T>C (p.Cys1556Arg)
NM_001197104.2(KMT2A):c.7639C>A (p.Pro2547Thr)
NM_001197104.2(KMT2A):c.7913A>G (p.Tyr2638Cys)
NM_001199161.2(USP19):c.556C>T (p.His186Tyr)
NM_001202.6(BMP4):c.683A>G (p.Lys228Arg)
NM_001204.7(BMPR2):c.968-5A>G rs1060502584
NM_001211.6(BUB1B):c.1059-3653C>T rs185599777
NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp) rs766052877
NM_001242896.3(DEPDC5):c.4297G>A (p.Asp1433Asn) rs766385762
NM_001244008.2(KIF1A):c.2022+4A>G rs1019495658
NM_001244008.2(KIF1A):c.997C>T (p.Pro333Ser)
NM_001252102.2(KIF21B):c.355C>T (p.His119Tyr)
NM_001256012.3(MYH10):c.3090+2_3090+5del
NM_001256012.3(MYH10):c.4884+1G>A rs2151813002
NM_001256012.3(MYH10):c.5362G>A (p.Asp1788Asn)
NM_001257096.2(PAX1):c.431A>G (p.His144Arg) rs2122133155
NM_001257180.2(SLC20A2):c.211C>T (p.Arg71Cys)
NM_001257291.2(SLC9A7):c.1147+1G>T
NM_001257291.2(SLC9A7):c.1418G>A (p.Arg473Lys)
NM_001257291.2(SLC9A7):c.1998C>T (p.Tyr666=)
NM_001260.3(CDK8):c.100C>T (p.His34Tyr) rs2137842744
NM_001260.3(CDK8):c.129-11T>A
NM_001260.3(CDK8):c.412G>A (p.Gly138Ser)
NM_001265612.2(CNOT1):c.158C>T (p.Ser53Leu) rs2151988644
NM_001267550.2(TTN):c.105313A>G (p.Lys35105Glu) rs2154133425
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu) rs148920986
NM_001270.4(CHD1):c.1697A>G (p.Asn566Ser)
NM_001270.4(CHD1):c.3834G>A (p.Met1278Ile) rs2112323991
NM_001270.4(CHD1):c.5123G>A (p.Arg1708Gln) rs1293161341
NM_001271938.2(MEGF8):c.6688G>A (p.Gly2230Ser)
NM_001271938.2(MEGF8):c.828+23G>A
NM_001273.5(CHD4):c.100+4A>G rs1948695831
NM_001273.5(CHD4):c.2722A>T (p.Asn908Tyr) rs2136214701
NM_001273.5(CHD4):c.3862C>T (p.Arg1288Trp)
NM_001273.5(CHD4):c.4058G>A (p.Arg1353Gln) rs1948225767
NM_001273.5(CHD4):c.4147+1G>T rs2136203532
NM_001273.5(CHD4):c.430G>T (p.Asp144Tyr) rs1394252975
NM_001273.5(CHD4):c.5044G>A (p.Asp1682Asn)
NM_001273.5(CHD4):c.5553C>T (p.His1851=)
NM_001277115.2(DNAH11):c.8497G>A (p.Ala2833Thr)
NM_001278716.2(FBXL4):c.1389+269G>A
NM_001278716.2(FBXL4):c.513-3C>A
NM_001282116.2(RFX3):c.973+3A>G
NM_001282116.2(RFX3):c.997T>A (p.Phe333Ile)
NM_001282195.2(SLC25A14):c.364A>G (p.Ile122Val)
NM_001282531.3(ADNP):c.2223C>G (p.Phe741Leu)
NM_001282531.3(ADNP):c.3040A>C (p.Lys1014Gln) rs2122736153
NM_001282531.3(ADNP):c.3292A>G (p.Ser1098Gly)
NM_001282531.3(ADNP):c.650A>G (p.Glu217Gly) rs2122761819
NM_001282531.3(ADNP):c.907A>G (p.Met303Val)
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001282680.3(GAPVD1):c.1429C>T (p.Arg477Ter) rs1177078143
NM_001282874.2(SMARCA1):c.2098-7C>T
NM_001286.5(CLCN6):c.1315G>A (p.Ala439Thr) rs762089073
NM_001286.5(CLCN6):c.1516G>A (p.Val506Ile)
NM_001286715.1(AGTPBP1):c.11_26dup (p.Ser9fs) rs1824340689
NM_001287491.2(TET3):c.1565A>G (p.Gln522Arg)
NM_001287491.2(TET3):c.1721C>T (p.Pro574Leu)
NM_001287491.2(TET3):c.4229T>C (p.Val1410Ala)
NM_001287491.2(TET3):c.4262C>T (p.Pro1421Leu)
NM_001287491.2(TET3):c.4414C>T (p.Leu1472Phe) rs1691188315
NM_001287491.2(TET3):c.5062C>G (p.Arg1688Gly) rs2104233612
NM_001288653.2(CLTC):c.1466C>G (p.Pro489Arg) rs2143548929
NM_001288705.3(CSF1R):c.2442+5G>A rs281860275
NM_001289.6(CLIC2):c.574A>G (p.Ile192Val) rs2074909269
NM_001290047.2(CECR2):c.1226dup (p.Thr410fs)
NM_001292034.3(TAB2):c.-90+24822_-90+24823del
NM_001303256.3(MORC2):c.2998A>G (p.Asn1000Asp)
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001303256.3(MORC2):c.698+1G>A rs2147266327
NM_001308120.2(TOGARAM1):c.3214A>T (p.Ile1072Phe)
NM_001318510.2(ACSL4):c.1790A>G (p.Asp597Gly)
NM_001318510.2(ACSL4):c.533T>C (p.Ile178Thr) rs1314721535
NM_001318852.2(MAPK8IP3):c.1972G>A (p.Asp658Asn) rs2141936354
NM_001318852.2(MAPK8IP3):c.2240G>A (p.Gly747Asp)
NM_001318852.2(MAPK8IP3):c.2450C>A (p.Ala817Asp) rs1555458045
NM_001318852.2(MAPK8IP3):c.3893-5C>A rs746848863
NM_001318852.2(MAPK8IP3):c.3902_3918dup (p.Glu1307fs) rs2042434284
NM_001320.7(CSNK2B):c.146C>A (p.Ala49Asp) rs2151185508
NM_001320.7(CSNK2B):c.577del (p.His193fs) rs1802056827
NM_001321075.3(DLG4):c.472G>A (p.Val158Ile)
NM_001321075.3(DLG4):c.667G>A (p.Val223Ile) rs2142882473
NM_001329943.3(KIAA0586):c.136G>A (p.Ala46Thr)
NM_001329943.3(KIAA0586):c.3034G>T (p.Ala1012Ser)
NM_001330078.2(NRXN1):c.1159-3T>C
NM_001330078.2(NRXN1):c.549G>A (p.Trp183Ter) rs1416806597
NM_001330260.2(SCN8A):c.5267T>G (p.Ile1756Ser)
NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)
NM_001330260.2(SCN8A):c.5362T>G (p.Phe1788Val)
NM_001330288.2(SMARCC2):c.2087C>G (p.Pro696Arg)
NM_001330288.2(SMARCC2):c.3269C>T (p.Ser1090Leu) rs1286924558
NM_001330360.1(POLA1):c.-62G>A rs2148293745
NM_001330574.2(ZNF711):c.1910A>G (p.Gln637Arg)
NM_001332.4(CTNND2):c.1331C>G (p.Pro444Arg) rs2149771542
NM_001332.4(CTNND2):c.199C>T (p.Arg67Ter)
NM_001332.4(CTNND2):c.2188del (p.Arg730fs)
NM_001346249.2(RALGAPA1):c.1247G>A (p.Arg416His)
NM_001346249.2(RALGAPA1):c.3556A>G (p.Ser1186Gly)
NM_001347721.2(DYRK1A):c.1931A>G (p.His644Arg)
NM_001347721.2(DYRK1A):c.208-28G>C rs552103257
NM_001348323.3(TRIP12):c.2996A>T (p.Glu999Val) rs2154270375
NM_001348323.3(TRIP12):c.3167A>G (p.Gln1056Arg)
NM_001348323.3(TRIP12):c.505T>A (p.Ser169Thr)
NM_001348323.3(TRIP12):c.97A>G (p.Arg33Gly)
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348716.2(KDM6B):c.1337_1341delinsTTGTG (p.Arg446_Lys447delinsLeuVal)
NM_001348716.2(KDM6B):c.225T>A (p.Tyr75Ter) rs1567788859
NM_001348716.2(KDM6B):c.2684_2685del (p.Pro895fs) rs1489158595
NM_001348716.2(KDM6B):c.3085dup (p.Gln1029fs) rs1567798814
NM_001348716.2(KDM6B):c.3194C>T (p.Pro1065Leu)
NM_001348716.2(KDM6B):c.3251_3261delinsCCAG (p.Val1084fs) rs1567799308
NM_001348716.2(KDM6B):c.3334_3335del (p.Ser1112fs) rs1597850788
NM_001348716.2(KDM6B):c.3730G>T (p.Glu1244Ter) rs1567801402
NM_001348716.2(KDM6B):c.3862_3865del (p.Phe1288fs) rs1567801525
NM_001348716.2(KDM6B):c.3992A>G (p.Asn1331Ser) rs1567802147
NM_001348716.2(KDM6B):c.4136A>C (p.Tyr1379Ser) rs1567802439
NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter) rs1419917079
NM_001348768.2(HECW2):c.3041T>C (p.Ile1014Thr) rs1690068658
NM_001348768.2(HECW2):c.3956T>C (p.Ile1319Thr)
NM_001348768.2(HECW2):c.4129G>A (p.Glu1377Lys)
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001349338.3(FOXP1):c.191T>G (p.Val64Gly)
NM_001350145.3(PATJ):c.1850G>T (p.Arg617Leu)
NM_001352027.3(PHF21A):c.1846C>G (p.Leu616Val) rs2134955205
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe) rs1569216588
NM_001353345.2(SETD1B):c.2071C>A (p.Pro691Thr)
NM_001353345.2(SETD1B):c.4970C>T (p.Ala1657Val)
NM_001353694.2(TIAM1):c.1524C>A (p.His508Gln)
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys) rs796052234
NM_001356.5(DDX3X):c.1733dup (p.His578fs) rs2147360104
NM_001356.5(DDX3X):c.79_80insT (p.Gln27fs) rs2147340518
NM_001357.5(DHX9):c.3760G>T (p.Gly1254Trp)
NM_001357.5(DHX9):c.594T>A (p.Tyr198Ter)
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001363644.2(TBCEL):c.74G>A (p.Arg25His)
NM_001363941.2(ARMC8):c.1998G>C (p.Met666Ile) rs2108410001
NM_001365536.1(SCN9A):c.223C>G (p.Leu75Val) rs201563763
NM_001365902.3(NFIX):c.827A>T (p.Lys276Met) rs2145442347
NM_001365925.2(NLGN1):c.1879T>G (p.Leu627Val)
NM_001365925.2(NLGN1):c.262C>T (p.Pro88Ser) rs780824820
NM_001365999.1(SZT2):c.1240C>G (p.Arg414Gly)
NM_001366145.2(TRPM3):c.988G>C (p.Val330Leu) rs2130851716
NM_001366285.2(TBXT):c.640G>T (p.Ala214Ser) rs1248179925
NM_001366290.3(ZNF142):c.598T>C (p.Cys200Arg) rs1054232204
NM_001366418.1(SETDB1):c.3787_3790del (p.Thr1263fs)
NM_001366521.1(ATP2B1):c.1884C>T (p.Asp628=)
NM_001367479.1(DNAH14):c.11240dup (p.Leu3747fs)
NM_001367479.1(DNAH14):c.12103T>A (p.Ser4035Thr)
NM_001367479.1(DNAH14):c.7610_7613del (p.Lys2537fs) rs549616863
NM_001367479.1(DNAH14):c.846_847delinsAT (p.His282_His283delinsGlnTyr)
NM_001367498.1(CNTNAP5):c.3545G>A (p.Arg1182His)
NM_001367498.1(CNTNAP5):c.3781C>T (p.Arg1261Trp)
NM_001367721.1(CASK):c.*1317G>A
NM_001367721.1(CASK):c.281T>C (p.Met94Thr) rs2147736309
NM_001367799.1(ZSWIM8):c.4620_4665+54del
NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)
NM_001367873.1(SOX6):c.1433_1434del (p.Ser477_Leu478insTer) rs2133913091
NM_001367943.1(TCF7L2):c.1592C>A (p.Thr531Asn)
NM_001368397.1(FRMPD4):c.1537C>T (p.Arg513Trp)
NM_001368397.1(FRMPD4):c.4562G>A (p.Arg1521Lys) rs947906329
NM_001368397.1(FRMPD4):c.474C>A (p.Pro158=)
NM_001368397.1(FRMPD4):c.5022G>A (p.Met1674Ile) rs1260187604
NM_001368397.1(FRMPD4):c.681+504C>A
NM_001368894.2(PAX6):c.301del (p.Lys100_Ile101insTer) rs1592544327
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu) rs144958262
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter) rs1567195445
NM_001370100.5(ZMYND11):c.757G>C (p.Asp253His) rs750575464
NM_001370100.5(ZMYND11):c.806C>T (p.Pro269Leu) rs2131773173
NM_001370658.1(BTD):c.606T>A (p.Asp202Glu)
NM_001371928.1(AHDC1):c.1210A>G (p.Lys404Glu)
NM_001372044.2(SHANK3):c.3021C>A (p.Ala1007=) rs1367333501
NM_001372044.2(SHANK3):c.3277C>T (p.Arg1093Trp)
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala) rs397514705
NM_001372066.1(TFAP2A):c.770+5G>A
NM_001372078.1(REV3L):c.8080_8081del (p.Leu2694fs)
NM_001374353.1(GLI2):c.1639T>G (p.Tyr547Asp) rs1015526827
NM_001374385.1(ATP8B1):c.316A>T (p.Thr106Ser)
NM_001374828.1(ARID1B):c.1508dup (p.Asn503fs) rs1583026682
NM_001374828.1(ARID1B):c.1654G>A (p.Ala552Thr)
NM_001374828.1(ARID1B):c.2582-1G>C rs1788656400
NM_001374828.1(ARID1B):c.6587A>C (p.Asn2196Thr) rs1430704414
NM_001374828.1(ARID1B):c.6901A>G (p.Asn2301Asp) rs2128398976
NM_001375524.1(TRRAP):c.1004C>A (p.Ala335Asp)
NM_001375524.1(TRRAP):c.10070G>A (p.Gly3357Asp)
NM_001375524.1(TRRAP):c.10948G>A (p.Asp3650Asn) rs2116883761
NM_001375524.1(TRRAP):c.1941C>T (p.Phe647=)
NM_001375524.1(TRRAP):c.205T>C (p.Phe69Leu)
NM_001375524.1(TRRAP):c.2135A>G (p.Lys712Arg)
NM_001375524.1(TRRAP):c.2678G>A (p.Arg893His) rs1319804642
NM_001375524.1(TRRAP):c.3464A>C (p.Tyr1155Ser)
NM_001375524.1(TRRAP):c.3478G>T (p.Gly1160Cys)
NM_001375524.1(TRRAP):c.4464C>T (p.Ser1488=) rs1554416035
NM_001375524.1(TRRAP):c.5621C>T (p.Pro1874Leu)
NM_001375524.1(TRRAP):c.6377G>A (p.Gly2126Glu)
NM_001375524.1(TRRAP):c.7187_7189del (p.Leu2396del) rs1267062381
NM_001375524.1(TRRAP):c.770C>G (p.Thr257Ser) rs1554406341
NM_001375524.1(TRRAP):c.8439G>T (p.Arg2813Ser) rs746996313
NM_001375524.1(TRRAP):c.9022+33T>C rs2116762447
NM_001375524.1(TRRAP):c.9529A>C (p.Thr3177Pro) rs1584397134
NM_001375524.1(TRRAP):c.9807C>T (p.Tyr3269=)
NM_001375808.2(LPIN2):c.1838T>G (p.Leu613Arg)
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile) rs1818621543
NM_001376.5(DYNC1H1):c.1208A>T (p.His403Leu)
NM_001376.5(DYNC1H1):c.1618A>G (p.Lys540Glu) rs2047930757
NM_001376.5(DYNC1H1):c.3665A>G (p.Asn1222Ser) rs2048071678
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys) rs2048263659
NM_001377.3(DYNC2H1):c.719A>G (p.His240Arg) rs749778723
NM_001378120.1(MBD5):c.1227G>C (p.Leu409Phe)
NM_001378414.1(HDAC4):c.2794G>A (p.Val932Met)
NM_001378418.1(TCF20):c.2512_2515del (p.Asp838fs) rs1601598682
NM_001378418.1(TCF20):c.4266G>T (p.Gln1422His)
NM_001378418.1(TCF20):c.4943del (p.Thr1648fs) rs1569143903
NM_001378418.1(TCF20):c.5070G>A (p.Gln1690=)
NM_001378452.1(ITPR1):c.4115G>A (p.Arg1372Gln) rs2125249432
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378964.1(CDON):c.640+5G>A rs2134676507
NM_001379029.1(CERT1):c.-171G>A
NM_001379110.1(SLC9A6):c.1072A>G (p.Thr358Ala)
NM_001379200.1(TBX1):c.1408_1446del (p.Pro470_Ala482del) rs1238730283
NM_001379200.1(TBX1):c.938C>A (p.Pro313His) rs1014592830
NM_001379451.1(BCORL1):c.2290_2291delinsAA (p.Ala764Asn)
NM_001379451.1(BCORL1):c.2597T>C (p.Val866Ala)
NM_001379451.1(BCORL1):c.3469G>A (p.Glu1157Lys)
NM_001379451.1(BCORL1):c.3987G>T (p.Arg1329Ser) rs2124489249
NM_001379451.1(BCORL1):c.4150C>T (p.Leu1384Phe)
NM_001379451.1(BCORL1):c.5076-45G>A
NM_001382347.1(MYO5A):c.2770G>A (p.Gly924Ser)
NM_001382508.1(DROSHA):c.203C>A (p.Ala68Asp) rs1740629052
NM_001382637.1(OTUD7A):c.2616CGACGC[3] (p.Ala876_Pro877insAspAla)
NM_001384125.1(BLTP1):c.3674G>A (p.Arg1225Gln)
NM_001384732.1(CPLANE1):c.49A>T (p.Lys17Ter) rs2150867081
NM_001385012.1(NBEA):c.7494C>G (p.Ile2498Met) rs745924046
NM_001385012.1(NBEA):c.7963+1G>T rs2153078787
NM_001385012.1(NBEA):c.8590C>A (p.Arg2864=)
NM_001386094.1(AGBL1):c.1298dup (p.Asn433fs) rs760873048
NM_001386125.1(OBSCN):c.1213G>T (p.Glu405Ter)
NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)
NM_001386125.1(OBSCN):c.6484G>A (p.Ala2162Thr)
NM_001386135.1(AFF3):c.713T>C (p.Met238Thr) rs1682014084
NM_001386298.1(CIC):c.1801G>A (p.Val601Met)
NM_001386298.1(CIC):c.3325A>G (p.Ile1109Val)
NM_001386298.1(CIC):c.4193G>A (p.Gly1398Asp)
NM_001386393.1(PANK2):c.1352G>A (p.Gly451Glu)
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr) rs1568550594
NM_001387430.1(SH2B1):c.809G>A (p.Arg270Gln)
NM_001387690.1(KATNAL2):c.1296C>G (p.Ile432Met) rs2147434737
NM_001387844.1(PRRC2C):c.2447dup (p.His816fs)
NM_001388303.1(HECTD4):c.9647A>C (p.Gln3216Pro)
NM_001393504.1(MAST3):c.399+3A>G
NM_001393769.1(MED12L):c.2154G>C (p.Lys718Asn)
NM_001393769.1(MED12L):c.3828A>C (p.Glu1276Asp) rs1265891074
NM_001393769.1(MED12L):c.4928A>G (p.Lys1643Arg)
NM_001394062.1(MACF1):c.1148del (p.Gly383fs)
NM_001394062.1(MACF1):c.18948+1G>A
NM_001394062.1(MACF1):c.22078T>G (p.Ser7360Ala)
NM_001394073.1(HS6ST2):c.1742C>T (p.Pro581Leu)
NM_001394372.1(BICRA):c.797C>T (p.Ala266Val)
NM_001394998.1(TANC2):c.3528_3536delinsAGCAGGGCCGCAGACAAGCAGGGCCGCAAGCAGACAA (p.Pro1177fs) rs2048501596
NM_001394998.1(TANC2):c.4703C>T (p.Ser1568Phe) rs1257800660
NM_001395010.1(DAB2IP):c.1640C>T (p.Thr547Ile) rs1230051963
NM_001395159.1(UNC79):c.2443C>T (p.Gln815Ter)
NM_001395159.1(UNC79):c.5933-1G>A
NM_001399.5(EDA):c.-80G>T rs2147196753
NM_001399.5(EDA):c.497del (p.Ala166fs) rs2147419276
NM_001415.4(EIF2S3):c.626C>G (p.Ala209Gly)
NM_001420.4(ELAVL3):c.675del (p.Tyr226fs)
NM_001429.4(EP300):c.152C>T (p.Thr51Ile)
NM_001429.4(EP300):c.6859A>G (p.Asn2287Asp) rs2145522603
NM_001470.4(GABBR1):c.545G>A (p.Trp182Ter) rs2127444404
NM_001498.4(GCLC):c.57C>G (p.Ala19=)
NM_001519.4(BRF1):c.1852G>A (p.Gly618Arg) rs200441045
NM_001519.4(BRF1):c.638G>A (p.Arg213Lys) rs368844889
NM_001519.4(BRF1):c.639G>C (p.Arg213Ser) rs1432386704
NM_001519.4(BRF1):c.782G>A (p.Arg261Gln) rs151290358
NM_001533.3(HNRNPL):c.88_106del (p.Gly30fs)
NM_001563.4(IMPG1):c.1874T>C (p.Ile625Thr) rs2149456228
NM_001606.5(ABCA2):c.3302G>A (p.Arg1101His)
NM_001606.5(ABCA2):c.6691G>A (p.Asp2231Asn)
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) rs1845899655
NM_001614.5(ACTG1):c.58_62delinsAACCAA (p.Gly20fs)
NM_001649.4(SHROOM2):c.3811G>C (p.Glu1271Gln)
NM_001649.4(SHROOM2):c.4121C>T (p.Pro1374Leu)
NM_001649.4(SHROOM2):c.4769G>A (p.Arg1590Gln)
NM_001694.4(ATP6V0C):c.404T>C (p.Leu135Pro)
NM_001792.5(CDH2):c.317C>T (p.Ala106Val)
NM_001829.4(CLCN3):c.1486G>A (p.Val496Ile)
NM_001829.4(CLCN3):c.2219C>T (p.Ser740Phe)
NM_001829.4(CLCN3):c.2262del (p.Asp756fs)
NM_001830.4(CLCN4):c.1242T>C (p.Cys414=)
NM_001830.4(CLCN4):c.1709G>A (p.Gly570Asp)
NM_001844.5(COL2A1):c.250G>A (p.Glu84Lys)
NM_001844.5(COL2A1):c.4121A>C (p.Gln1374Pro)
NM_001845.6(COL4A1):c.4240G>A (p.Gly1414Arg)
NM_001845.6(COL4A1):c.4928+5G>A
NM_001846.4(COL4A2):c.1029A>T (p.Pro343=)
NM_001846.4(COL4A2):c.4276G>A (p.Gly1426Arg) rs2139553655
NM_001846.4(COL4A2):c.827G>T (p.Gly276Val) rs372917662
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_001905.4(CTPS1):c.1471T>C (p.Cys491Arg) rs2148420580
NM_001923.5(DDB1):c.1988A>G (p.Asn663Ser) rs2134911215
NM_001923.5(DDB1):c.664+38T>C
NM_001930.4(DHPS):c.216_217dup (p.Lys73fs) rs765706154
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
NM_001967.4(EIF4A2):c.1060C>T (p.Arg354Cys)
NM_001999.4(FBN2):c.3343+1996C>T
NM_002016.2(FLG):c.1369C>T (p.Arg457Trp)
NM_002047.4(GARS1):c.614A>T (p.Asp205Val) rs2128132956
NM_002074.5(GNB1):c.262A>G (p.Asn88Asp)
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002160.4(TNC):c.3592C>T (p.Gln1198Ter)
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002232.5(KCNA3):c.1363A>G (p.Ile455Val) rs2100949783
NM_002240.5(KCNJ6):c.472C>T (p.Arg158Trp) rs2123451821
NM_002249.6(KCNN3):c.1652C>T (p.Ala551Val) rs1557944131
NM_002249.6(KCNN3):c.439A>G (p.Ser147Gly)
NM_002249.6(KCNN3):c.601G>A (p.Ala201Thr)
NM_002332.3(LRP1):c.6016G>T (p.Gly2006Cys)
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) rs2098614719
NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu) rs199871539
NM_002336.3(LRP6):c.1579C>G (p.Leu527Val)
NM_002340.6(LSS):c.1153C>A (p.Gln385Lys)
NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys) rs1673092558
NM_002397.5(MEF2C):c.1413G>A (p.Trp471Ter)
NM_002397.5(MEF2C):c.415C>T (p.Pro139Ser) rs2152525975
NM_002397.5(MEF2C):c.638-2A>G rs1554102556
NM_002430.3(MN1):c.193A>G (p.Met65Val) rs199615090
NM_002430.3(MN1):c.569G>A (p.Cys190Tyr)
NM_002487.3(NDN):c.602A>G (p.Lys201Arg) rs2140757364
NM_002522.4(NPTX1):c.539G>T (p.Arg180Leu)
NM_002524.5(NRAS):c.274G>A (p.Asp92Asn) rs2101741771
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002539.3(ODC1):c.1324G>A (p.Ala442Thr)
NM_002547.3(OPHN1):c.127G>C (p.Gly43Arg)
NM_002547.3(OPHN1):c.137T>A (p.Leu46His) rs2147797152
NM_002547.3(OPHN1):c.2037T>G (p.Asp679Glu)
NM_002578.5(PAK3):c.830G>C (p.Gly277Ala) rs2094364755
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002705.5(PPL):c.3519G>T (p.Lys1173Asn)
NM_002714.4(PPP1R10):c.-532-1G>C
NM_002734.5(PRKAR1A):c.856_873del (p.Gly286_Glu291del) rs2085879368
NM_002768.5(CHMP1A):c.84G>A (p.Ala28=)
NM_002786.4(PSMA1):c.7C>T (p.Arg3Ter) rs2062941120
NM_002803.4(PSMC2):c.325C>T (p.Pro109Ser)
NM_002803.4(PSMC2):c.751G>T (p.Gly251Cys) rs1820573027
NM_002830.4(PTPN4):c.588-2A>G rs1678147693
NM_002834.5(PTPN11):c.1224A>G (p.Gln408=)
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1348A>G (p.Met450Val) rs2038680566
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002850.4(PTPRS):c.5278A>G (p.Thr1760Ala)
NM_002860.4(ALDH18A1):c.1834T>C (p.Cys612Arg)
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu) rs1472614445
NM_002865.3(RAB2A):c.319C>T (p.His107Tyr)
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002887.4(RARS1):c.175C>T (p.Arg59Ter) rs749027104
NM_002890.3(RASA1):c.2759-3_2759-2del
NM_002957.6(RXRA):c.28+1G>A rs1834915264
NM_002968.3(SALL1):c.1441A>G (p.Ile481Val) rs2143445989
NM_002971.6(SATB1):c.2009C>G (p.Pro670Arg)
NM_002971.6(SATB1):c.260T>A (p.Ile87Asn)
NM_002971.6(SATB1):c.676G>T (p.Ala226Ser)
NM_002979.5(SCP2):c.973+816C>T
NM_003024.3(ITSN1):c.1880C>T (p.Ala627Val)
NM_003024.3(ITSN1):c.3660A>C (p.Gln1220His)
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003042.4(SLC6A1):c.1328G>T (p.Gly443Val) rs1697891755
NM_003042.4(SLC6A1):c.153C>T (p.Phe51=)
NM_003052.5(SLC34A1):c.1840G>T (p.Val614Phe)
NM_003070.5(SMARCA2):c.2376T>A (p.Phe792Leu)
NM_003072.5(SMARCA4):c.2439-10G>T rs1060504469
NM_003072.5(SMARCA4):c.2953G>C (p.Glu985Gln)
NM_003073.5(SMARCB1):c.1148C>T (p.Pro383Leu)
NM_003073.5(SMARCB1):c.413G>C (p.Ser138Thr) rs1929110548
NM_003079.5(SMARCE1):c.223A>G (p.Arg75Gly)
NM_003079.5(SMARCE1):c.742A>T (p.Ile248Leu) rs2037096994
NM_003086.4(SNAPC4):c.473G>A (p.Gly158Glu)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003107.3(SOX4):c.782A>C (p.Lys261Thr) rs779342173
NM_003112.5(SP4):c.424del (p.Ser142fs)
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.997C>T (p.Arg333Cys)
NM_003128.3(SPTBN1):c.4801G>T (p.Ala1601Ser)
NM_003128.3(SPTBN1):c.4997+5G>C
NM_003128.3(SPTBN1):c.6046+5G>A
NM_003128.3(SPTBN1):c.6234G>C (p.Arg2078Ser)
NM_003128.3(SPTBN1):c.7052A>G (p.Lys2351Arg)
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003179.3(SYP):c.583G>A (p.Asp195Asn) rs2147882149
NM_003212.4(CRIPTO):c.185G>C (p.Arg62Pro)
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp) rs1441479444
NM_003274.5(TRAPPC10):c.2441C>T (p.Thr814Met)
NM_003274.5(TRAPPC10):c.2827G>A (p.Val943Ile)
NM_003289.4(TPM2):c.268C>T (p.Arg90Cys)
NM_003334.4(UBA1):c.1576-14T>C
NM_003336.4(UBE2A):c.241+14T>C
NM_003361.4(UMOD):c.155G>T (p.Cys52Phe) rs2141677115
NM_003365.3(UQCRC1):c.302C>T (p.Thr101Ile) rs897575365
NM_003403.5(YY1):c.1124G>A (p.Arg375Gln) rs2139605796
NM_003403.5(YY1):c.690dup (p.Asp231fs) rs759536629
NM_003470.3(USP7):c.3281T>G (p.Leu1094Arg) rs2141156206
NM_003482.4(KMT2D):c.12323T>C (p.Leu4108Pro) rs1942963597
NM_003482.4(KMT2D):c.2557C>T (p.Pro853Ser)
NM_003482.4(KMT2D):c.3844G>T (p.Gly1282Cys) rs1937812728
NM_003491.4(NAA10):c.239C>T (p.Ser80Phe)
NM_003545.4(H4C5):c.247A>G (p.Thr83Ala)
NM_003573.2(LTBP4):c.2104G>C (p.Ala702Pro) rs754279420
NM_003587.5(DHX16):c.568A>G (p.Lys190Glu)
NM_003588.4(CUL4B):c.*552T>C rs1445049732
NM_003590.5(CUL3):c.531_533del (p.Val178del)
NM_003592.3(CUL1):c.811G>T (p.Glu271Ter)
NM_003611.3(OFD1):c.1315C>G (p.Leu439Val)
NM_003611.3(OFD1):c.1464A>G (p.Lys488=)
NM_003611.3(OFD1):c.1485del (p.Glu496fs) rs2047765952
NM_003620.4(PPM1D):c.83T>C (p.Val28Ala)
NM_003660.4(PPFIA3):c.1619_1620del (p.Ala540fs) rs2041131704
NM_003709.4(KLF7):c.410C>T (p.Thr137Met) rs1276619385
NM_003709.4(KLF7):c.858-4C>T
NM_003718.5(CDK13):c.325C>T (p.Pro109Ser)
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) rs113993966
NM_003722.5(TP63):c.955C>T (p.Arg319Cys) rs121908839
NM_003754.3(EIF3F):c.1000C>T (p.Leu334Phe)
NM_003754.3(EIF3F):c.591C>T (p.Pro197=)
NM_003791.4(MBTPS1):c.2229-17T>A rs2151145126
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter) rs774206954
NM_003922.4(HERC1):c.7309G>A (p.Ala2437Thr)
NM_003931.3(WASF1):c.1613G>A (p.Arg538His)
NM_004004.6(GJB2):c.136G>C (p.Asp46His) rs1064797088
NM_004006.3(DMD):c.9564-22C>G rs398124097
NM_004006.3(DMD):c.9564-23T>A rs398124098
NM_004035.7(ACOX1):c.1592G>A (p.Cys531Tyr)
NM_004044.7(ATIC):c.1528G>A (p.Ala510Thr)
NM_004044.7(ATIC):c.260A>G (p.Asp87Gly)
NM_004085.4(TIMM8A):c.132+451C>T
NM_004104.5(FASN):c.4994T>C (p.Val1665Ala) rs2144787060
NM_004114.5(FGF13):c.*9200C>T
NM_004130.4(GYG1):c.545A>G (p.His182Arg)
NM_004187.5(KDM5C):c.1126T>G (p.Cys376Gly)
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004187.5(KDM5C):c.263A>G (p.Gln88Arg) rs1460418132
NM_004204.5(PIGQ):c.*379G>A
NM_004229.4(MED14):c.1123G>T (p.Asp375Tyr) rs1379065821
NM_004229.4(MED14):c.2005C>G (p.Gln669Glu) rs2146667617
NM_004238.3(TRIP12):c.1176T>C (p.Ser392=) rs1387032124
NM_004247.4(EFTUD2):c.407G>T (p.Gly136Val)
NM_004247.4(EFTUD2):c.427-3T>G
NM_004321.8(KIF1A):c.935C>A (p.Thr312Asn) rs779049732
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.6(BRAF):c.1992+3A>G rs1797595959
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter) rs1676113645
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly) rs1231394496
NM_004380.3(CREBBP):c.3219G>C (p.Gln1073His) rs2052891462
NM_004380.3(CREBBP):c.490A>G (p.Ser164Gly)
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5582A>C (p.Gln1861Pro) rs2151309750
NM_004380.3(CREBBP):c.5831C>A (p.Ala1944Asp) rs751146607
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs) rs587783507
NM_004444.5(EPHB4):c.124-11_124-9del
NM_004444.5(EPHB4):c.2393C>T (p.Thr798Ile) rs2116416779
NM_004456.5(EZH2):c.1094A>G (p.Asn365Ser) rs1285260202
NM_004456.5(EZH2):c.2110+2T>A
NM_004463.3(FGD1):c.2431C>T (p.Leu811=)
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004484.4(GPC3):c.337+7297G>T
NM_004484.4(GPC3):c.565G>T (p.Asp189Tyr) rs900143355
NM_004491.5(ARHGAP35):c.326G>A (p.Arg109Gln) rs982301676
NM_004535.3(MYT1):c.1807A>G (p.Lys603Glu)
NM_004586.3(RPS6KA3):c.212dup (p.Leu71fs) rs2148732123
NM_004606.5(TAF1):c.4683C>T (p.His1561=) rs2148611936
NM_004606.5(TAF1):c.5282A>G (p.Lys1761Arg) rs2038513185
NM_004606.5(TAF1):c.683C>T (p.Thr228Ile)
NM_004606.5(TAF1):c.714+24G>C
NM_004638.4(PRRC2A):c.4315C>T (p.Arg1439Ter)
NM_004656.4(BAP1):c.1153C>G (p.Arg385Gly)
NM_004667.6(HERC2):c.13883C>T (p.Ala4628Val)
NM_004667.6(HERC2):c.6722A>G (p.Lys2241Arg)
NM_004667.6(HERC2):c.9431T>C (p.Met3144Thr)
NM_004667.6(HERC2):c.9583A>G (p.Ile3195Val)
NM_004699.4(FAM50A):c.634C>T (p.Arg212Trp)
NM_004715.5(CTDP1):c.1364C>T (p.Ser455Phe)
NM_004722.4(AP4M1):c.750C>A (p.Val250=)
NM_004769.4(ASIC3):c.235C>T (p.Arg79Ter)
NM_004769.4(ASIC3):c.449_450del (p.Tyr150fs)
NM_004818.3(DDX23):c.1493G>T (p.Arg498Leu) rs1938434839
NM_004818.3(DDX23):c.1582C>T (p.Arg528Cys) rs1938420797
NM_004818.3(DDX23):c.1646A>T (p.Asp549Val) rs1938419935
NM_004818.3(DDX23):c.1812G>T (p.Met604Ile) rs1938406640
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser) rs1938405472
NM_004818.3(DDX23):c.2264C>T (p.Thr755Met) rs1938372282
NM_004818.3(DDX23):c.877C>T (p.Arg293Trp)
NM_004826.4(ECEL1):c.559T>C (p.Cys187Arg) rs1690717032
NM_004826.4(ECEL1):c.626G>T (p.Gly209Val) rs774295158
NM_004859.4(CLTC):c.3813G>A (p.Met1271Ile) rs972611601
NM_004863.4(SPTLC2):c.203T>G (p.Met68Arg)
NM_004933.3(CDH15):c.1451C>T (p.Ala484Val)
NM_004947.5(DOCK3):c.3770C>G (p.Ala1257Gly)
NM_004947.5(DOCK3):c.3801G>A (p.Leu1267=)
NM_004947.5(DOCK3):c.602T>C (p.Met201Thr)
NM_004958.4(MTOR):c.1782del (p.Phe594fs) rs2100909155
NM_004958.4(MTOR):c.3935C>T (p.Pro1312Leu)
NM_004958.4(MTOR):c.4325_4326del (p.Glu1442fs)
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.7121del (p.Lys2374fs) rs2100320690
NM_004961.4(GABRE):c.1189T>C (p.Cys397Arg) rs2124144962
NM_004974.4(KCNA2):c.1022T>C (p.Leu341Pro) rs2101397797
NM_004974.4(KCNA2):c.480del (p.Pro161fs)
NM_004975.4(KCNB1):c.1604A>G (p.Lys535Arg) rs2146813113
NM_004984.4(KIF5A):c.2722A>C (p.Ser908Arg) rs2140171539
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005002.5(NDUFA9):c.266A>G (p.Tyr89Cys) rs1401024490
NM_005006.7(NDUFS1):c.289A>T (p.Met97Leu) rs2105977000
NM_005011.5(NRF1):c.675del (p.Glu227fs)
NM_005027.4(PIK3R2):c.151C>G (p.Pro51Ala) rs2147945003
NM_005035.4(POLRMT):c.2887G>A (p.Val963Met)
NM_005035.4(POLRMT):c.3185C>G (p.Ser1062Cys)
NM_005045.4(RELN):c.7097T>A (p.Val2366Asp) rs1830121221
NM_005045.4(RELN):c.9419T>G (p.Met3140Arg)
NM_005045.4(RELN):c.9620G>A (p.Arg3207His) rs992226248
NM_005051.3(QARS1):c.321C>A (p.Phe107Leu) rs201359259
NM_005052.3(RAC3):c.466G>A (p.Glu156Lys)
NM_005066.3(SFPQ):c.207G>C (p.Gln69His) rs2148630116
NM_005120.3(MED12):c.1359T>C (p.Ile453=)
NM_005120.3(MED12):c.3868-21C>A
NM_005120.3(MED12):c.5954T>C (p.Val1985Ala) rs2092336606
NM_005121.3(MED13):c.1840G>T (p.Ala614Ser) rs1288885723
NM_005121.3(MED13):c.2476+7T>G rs1249502323
NM_005121.3(MED13):c.3278G>A (p.Cys1093Tyr)
NM_005121.3(MED13):c.4524T>C (p.Ser1508=)
NM_005121.3(MED13):c.4784C>T (p.Ala1595Val) rs2080043524
NM_005121.3(MED13):c.5240C>T (p.Ala1747Val)
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln) rs140627020
NM_005215.4(DCC):c.1874C>A (p.Pro625Gln)
NM_005224.3(ARID3A):c.676G>T (p.Glu226Ter)
NM_005235.3(ERBB4):c.1198+1G>T
NM_005257.6(GATA6):c.629G>C (p.Ser210Thr) rs2143276783
NM_005321.3(H1-4):c.152C>T (p.Ser51Phe)
NM_005378.6(MYCN):c.963dup (p.Arg322fs) rs2103330798
NM_005385.4(NKTR):c.3919G>A (p.Asp1307Asn) rs2125821372
NM_005392.4(PHF2):c.2749C>T (p.Gln917Ter) rs1826897308
NM_005402.4(RALA):c.488A>T (p.Asn163Ile) rs2116098993
NM_005445.4(SMC3):c.1812+1G>A rs1861198554
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005458.8(GABBR2):c.2623T>A (p.Cys875Ser)
NM_005529.7(HSPG2):c.7072C>G (p.Leu2358Val) rs1188447343
NM_005559.4(LAMA1):c.5965C>T (p.Gln1989Ter) rs2144047886
NM_005618.4(DLL1):c.349C>T (p.Pro117Ser) rs1434611261
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala) rs1236176576
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1442C>T (p.Pro481Leu) rs730880383
NM_005633.4(SOS1):c.1452C>A (p.Ser484Arg) rs730880384
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.2113G>A (p.Glu705Lys) rs730880385
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005650.4(TCF20):c.3924C>G (p.Ile1308Met) rs1050687366
NM_005689.4(ABCB6):c.2350A>G (p.Arg784Gly) rs2106420840
NM_005765.3(ATP6AP2):c.534+55A>G rs2146542787
NM_005826.5(HNRNPR):c.448C>T (p.Pro150Ser)
NM_005859.5(PURA):c.350T>C (p.Phe117Ser) rs1763045003
NM_005862.3(STAG1):c.1747T>C (p.Ser583Pro)
NM_005862.3(STAG1):c.3517A>C (p.Met1173Leu)
NM_005862.3(STAG1):c.943A>G (p.Ile315Val)
NM_005876.5(SPEG):c.3484G>A (p.Gly1162Ser)
NM_005883.3(APC2):c.3821G>A (p.Cys1274Tyr) rs1362393929
NM_005883.3(APC2):c.3931G>A (p.Ala1311Thr)
NM_005883.3(APC2):c.4274G>A (p.Arg1425Lys) rs1568181563
NM_005883.3(APC2):c.796C>A (p.Pro266Thr) rs146579468
NM_005902.4(SMAD3):c.96G>C (p.Glu32Asp) rs1450927153
NM_005909.5(MAP1B):c.483C>A (p.Asn161Lys)
NM_005922.4(MAP3K4):c.4781A>C (p.Gln1594Pro)
NM_005982.4(SIX1):c.527G>A (p.Arg176Lys)
NM_006009.4(TUBA1A):c.376-1G>C rs1942175909
NM_006015.6(ARID1A):c.3348C>A (p.Asp1116Glu)
NM_006015.6(ARID1A):c.3426G>T (p.Gln1142His) rs2124103896
NM_006015.6(ARID1A):c.4289A>G (p.Gln1430Arg)
NM_006015.6(ARID1A):c.5871C>A (p.Asp1957Glu) rs761246391
NM_006015.6(ARID1A):c.6172G>C (p.Glu2058Gln)
NM_006015.6(ARID1A):c.911C>T (p.Ser304Leu)
NM_006019.4(TCIRG1):c.-5+5G>A rs2134425141
NM_006030.4(CACNA2D2):c.2972-12G>A
NM_006035.4(CDC42BPB):c.3173T>C (p.Val1058Ala)
NM_006035.4(CDC42BPB):c.352-3C>T
NM_006035.4(CDC42BPB):c.3551G>A (p.Gly1184Asp) rs1892191977
NM_006035.4(CDC42BPB):c.4168T>C (p.Tyr1390His)
NM_006045.3(ATP9A):c.503G>C (p.Arg168Pro)
NM_006045.3(ATP9A):c.800-5T>C
NM_006070.6(TFG):c.565G>A (p.Asp189Asn)
NM_006078.5(CACNG2):c.190T>C (p.Trp64Arg)
NM_006086.4(TUBB3):c.271A>G (p.Ile91Val)
NM_006158.5(NEFL):c.1124T>A (p.Leu375His)
NM_006160.4(NEUROD2):c.917A>G (p.Asn306Ser)
NM_006160.4(NEUROD2):c.952G>C (p.Asp318His)
NM_006180.6(NTRK2):c.1156G>T (p.Asp386Tyr)
NM_006180.6(NTRK2):c.2201G>A (p.Arg734His) rs767802494
NM_006201.5(CDK16):c.1294C>T (p.Arg432Ter)
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006236.3(POU3F3):c.929C>T (p.Pro310Leu)
NM_006245.4(PPP2R5D):c.1806_1807del (p.Ter603ThrextTer?)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006265.3(RAD21):c.374+31A>G
NM_006267.5(RANBP2):c.9530A>G (p.Lys3177Arg)
NM_006305.4(ANP32A):c.55-1G>C rs2140361158
NM_006323.5(SEC24B):c.2999T>A (p.Leu1000Ter)
NM_006421.5(ARFGEF1):c.3752C>T (p.Thr1251Ile)
NM_006494.4(ERF):c.1318G>A (p.Val440Met)
NM_006494.4(ERF):c.194G>A (p.Arg65Gln) rs587777009
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006545.5(NPRL2):c.3G>T (p.Met1Ile) rs1703727528
NM_006565.4(CTCF):c.1022G>A (p.Arg341His)
NM_006565.4(CTCF):c.307A>G (p.Met103Val) rs1419322536
NM_006579.3(EBP):c.437T>A (p.Leu146His) rs2147156548
NM_006593.4(TBR1):c.919G>A (p.Gly307Arg)
NM_006662.3(SRCAP):c.1487A>G (p.Gln496Arg) rs2151288400
NM_006662.3(SRCAP):c.1850A>G (p.Gln617Arg) rs2052900619
NM_006662.3(SRCAP):c.633+13G>T rs1016999544
NM_006734.4(HIVEP2):c.3421G>A (p.Gly1141Ser) rs2114651270
NM_006734.4(HIVEP2):c.3532A>G (p.Met1178Val) rs2114650656
NM_006734.4(HIVEP2):c.4277C>T (p.Pro1426Leu)
NM_006734.4(HIVEP2):c.4508A>C (p.Glu1503Ala) rs2114646130
NM_006759.4(UGP2):c.1333A>T (p.Arg445Ter)
NM_006759.4(UGP2):c.19+4A>G
NM_006766.5(KAT6A):c.205A>C (p.Asn69His) rs1257924800
NM_006766.5(KAT6A):c.2830G>A (p.Val944Ile)
NM_006766.5(KAT6A):c.3599G>C (p.Arg1200Pro)
NM_006766.5(KAT6A):c.5097_5099dup (p.Pro1701_Leu1702insPro)
NM_006766.5(KAT6A):c.826-4A>G
NM_006767.4(LZTR1):c.2177A>G (p.Tyr726Cys)
NM_006772.3(SYNGAP1):c.1224_1226del (p.Met409del) rs2151169927
NM_006772.3(SYNGAP1):c.3582+5G>A rs1323082596
NM_006772.3(SYNGAP1):c.862G>A (p.Asp288Asn)
NM_006852.6(TLK2):c.1718C>T (p.Pro573Leu)
NM_006895.3(HNMT):c.143G>C (p.Gly48Ala)
NM_006895.3(HNMT):c.3G>A (p.Met1Ile)
NM_006922.4(SCN3A):c.1060A>C (p.Lys354Gln) rs1553535457
NM_006922.4(SCN3A):c.4448T>G (p.Ile1483Ser) rs2105636283
NM_006924.5(SRSF1):c.71C>T (p.Pro24Leu) rs2143492189
NM_006939.4(SOS2):c.1511A>G (p.Asp504Gly) rs1884937142
NM_006939.4(SOS2):c.2084T>C (p.Val695Ala)
NM_007040.6(HNRNPUL1):c.1228C>T (p.Arg410Trp)
NM_007059.4(KPTN):c.863+5G>A rs774473819
NM_007118.4(TRIO):c.2755-3C>T
NM_007118.4(TRIO):c.4214T>C (p.Phe1405Ser) rs2152364335
NM_007118.4(TRIO):c.5204-3325G>C rs1238607769
NM_007118.4(TRIO):c.5243C>T (p.Ala1748Val) rs1753753122
NM_007118.4(TRIO):c.5896T>C (p.Ser1966Pro)
NM_007118.4(TRIO):c.6775C>T (p.Arg2259Trp) rs2126624668
NM_007118.4(TRIO):c.7050dup (p.Val2351fs) rs746654944
NM_007118.4(TRIO):c.8366A>G (p.Lys2789Arg)
NM_007118.4(TRIO):c.9061C>T (p.Gln3021Ter)
NM_007126.5(VCP):c.265del (p.Arg89fs) rs2131040551
NM_007185.7(CELF3):c.626A>T (p.Gln209Leu) rs1672697158
NM_007192.4(SUPT16H):c.1222C>T (p.Leu408Phe)
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007325.5(GRIA3):c.1358G>A (p.Gly453Asp) rs2147384854
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_007325.5(GRIA3):c.908T>C (p.Leu303Pro)
NM_007327.4(GRIN1):c.1366T>C (p.Tyr456His)
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.2589+5G>A rs2131303553
NM_012141.3(INTS6):c.613+2T>C
NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser) rs769177784
NM_012154.5(AGO2):c.560G>C (p.Gly187Ala)
NM_012199.5(AGO1):c.*10686T>C
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012216.4(MID2):c.1217C>A (p.Ser406Tyr)
NM_012284.3(KCNH3):c.74C>T (p.Thr25Met) rs1937794320
NM_012285.3(KCNH4):c.1390+1G>A
NM_012310.5(KIF4A):c.1151A>G (p.Asn384Ser)
NM_012426.5(SF3B3):c.1390C>T (p.Arg464Ter)
NM_013265.4(VPS51):c.1408A>T (p.Lys470Ter) rs1405788525
NM_013275.6(ANKRD11):c.1977del (p.Thr658_Tyr659insTer) rs2151761883
NM_013275.6(ANKRD11):c.2777del (p.Lys926fs) rs2151758291
NM_013275.6(ANKRD11):c.3073C>T (p.Pro1025Ser) rs1337062402
NM_013275.6(ANKRD11):c.5110C>A (p.Pro1704Thr) rs1567565765
NM_013403.3(STRN4):c.737+1G>C
NM_013436.5(NCKAP1):c.1995G>C (p.Met665Ile)
NM_013436.5(NCKAP1):c.2225G>C (p.Ser742Thr)
NM_013436.5(NCKAP1):c.881C>T (p.Ser294Phe)
NM_013450.4(BAZ2B):c.4031T>C (p.Val1344Ala)
NM_013450.4(BAZ2B):c.4064G>A (p.Ser1355Asn) rs2149427953
NM_013450.4(BAZ2B):c.502+1G>C rs1281299910
NM_013450.4(BAZ2B):c.5774G>A (p.Trp1925Ter) rs2148967559
NM_014023.4(WDR37):c.1139A>G (p.Asn380Ser)
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
NM_014141.6(CNTNAP2):c.3647C>G (p.Ala1216Gly) rs553418598
NM_014141.6(CNTNAP2):c.512G>T (p.Arg171Leu) rs368487049
NM_014159.7(SETD2):c.1352C>T (p.Thr451Ile)
NM_014159.7(SETD2):c.4454G>C (p.Arg1485Thr) rs2107738793
NM_014159.7(SETD2):c.4622A>G (p.Asn1541Ser)
NM_014159.7(SETD2):c.5102G>T (p.Gly1701Val)
NM_014159.7(SETD2):c.889A>G (p.Lys297Glu)
NM_014159.7(SETD2):c.93G>T (p.Lys31Asn) rs2106730247
NM_014225.6(PPP2R1A):c.313C>T (p.Arg105Trp)
NM_014271.4(IL1RAPL1):c.-25+31A>C
NM_014271.4(IL1RAPL1):c.1114G>A (p.Val372Ile)
NM_014271.4(IL1RAPL1):c.279A>G (p.Gly93=)
NM_014284.3(NCDN):c.202A>C (p.Ile68Leu)
NM_014305.4(TGDS):c.270_271del (p.Lys91fs) rs727502809
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014370.4(SRPK3):c.387+1G>A
NM_014390.4(SND1):c.977G>A (p.Trp326Ter)
NM_014423.4(AFF4):c.1220C>T (p.Pro407Leu)
NM_014423.4(AFF4):c.3256C>G (p.Pro1086Ala)
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014461.4(CNTN6):c.2786T>C (p.Met929Thr) rs1695705016
NM_014491.4(FOXP2):c.1545+5G>A
NM_014612.5(FAM120A):c.1988C>A (p.Ala663Asp) rs1861769399
NM_014612.5(FAM120A):c.2057G>T (p.Arg686Leu)
NM_014654.4(SDC3):c.1297_1299del (p.Lys433del) rs2124304646
NM_014694.4(ADAMTSL2):c.1934G>A (p.Arg645His) rs1831023991
NM_014712.3(SETD1A):c.1604G>A (p.Gly535Glu) rs2056125022
NM_014712.3(SETD1A):c.1606C>G (p.His536Asp) rs932655804
NM_014712.3(SETD1A):c.2392C>A (p.Leu798Met) rs368580223
NM_014712.3(SETD1A):c.3667G>A (p.Glu1223Lys) rs1400755934
NM_014712.3(SETD1A):c.5071A>G (p.Asn1691Asp) rs2143609049
NM_014727.3(KMT2B):c.2722G>A (p.Asp908Asn)
NM_014727.3(KMT2B):c.3136C>T (p.Arg1046Cys)
NM_014727.3(KMT2B):c.371A>G (p.Gln124Arg) rs1184172936
NM_014727.3(KMT2B):c.6640C>A (p.Pro2214Thr)
NM_014727.3(KMT2B):c.7580T>G (p.Leu2527Arg)
NM_014738.6(TMEM94):c.1672C>T (p.Leu558=)
NM_014738.6(TMEM94):c.377G>A (p.Arg126Gln)
NM_014795.4(ZEB2):c.1862T>C (p.Val621Ala) rs2149877024
NM_014795.4(ZEB2):c.3047G>A (p.Arg1016Gln) rs2149875484
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.850T>C (p.Cys284Arg)
NM_014795.4(ZEB2):c.953G>A (p.Arg318His) rs2149877534
NM_014806.5(RUSC2):c.3106G>A (p.Val1036Ile)
NM_014806.5(RUSC2):c.910C>T (p.Gln304Ter) rs1821779826
NM_014825.3(URB1):c.5303C>G (p.Pro1768Arg)
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)
NM_014859.6(ARHGAP44):c.1780G>A (p.Glu594Lys)
NM_014866.2(SEC16A):c.4647+2T>A
NM_014866.2(SEC16A):c.5255T>C (p.Val1752Ala)
NM_014874.4(MFN2):c.1525G>T (p.Val509Leu) rs945014959
NM_014921.5(ADGRL1):c.3001A>C (p.Ser1001Arg)
NM_014921.5(ADGRL1):c.400G>C (p.Val134Leu)
NM_014921.5(ADGRL1):c.4131C>A (p.Asp1377Glu)
NM_014975.3(MAST1):c.1506-4_1511del
NM_014975.3(MAST1):c.4576C>A (p.Pro1526Thr)
NM_014983.3(HMGXB3):c.137+2T>C rs2113721678
NM_014991.6(WDFY3):c.10537T>G (p.Leu3513Val)
NM_014991.6(WDFY3):c.2429+5T>G
NM_014991.6(WDFY3):c.4136C>G (p.Ser1379Cys) rs2149493841
NM_014991.6(WDFY3):c.8062T>G (p.Leu2688Val)
NM_014991.6(WDFY3):c.952C>T (p.Leu318Phe) rs1755271246
NM_014991.6(WDFY3):c.9820A>G (p.Ile3274Val) rs2148783361
NM_015001.3(SPEN):c.1243+4A>G
NM_015001.3(SPEN):c.2984C>G (p.Ala995Gly)
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter) rs2071226510
NM_015001.3(SPEN):c.6223_6227del (p.Ser2075fs) rs2148741007
NM_015001.3(SPEN):c.7354T>G (p.Ser2452Ala) rs755620089
NM_015001.3(SPEN):c.862A>G (p.Ser288Gly)
NM_015001.3(SPEN):c.9109C>T (p.Pro3037Ser)
NM_015015.3(KDM4B):c.1584G>T (p.Met528Ile)
NM_015015.3(KDM4B):c.209C>T (p.Ala70Val)
NM_015015.3(KDM4B):c.2129A>C (p.Glu710Ala) rs1397963915
NM_015021.3(ZNF292):c.1034G>C (p.Gly345Ala)
NM_015021.3(ZNF292):c.1388A>C (p.Glu463Ala)
NM_015021.3(ZNF292):c.2059T>A (p.Phe687Ile)
NM_015021.3(ZNF292):c.2632A>G (p.Ile878Val)
NM_015021.3(ZNF292):c.3260C>T (p.Pro1087Leu)
NM_015021.3(ZNF292):c.4300T>A (p.Leu1434Met)
NM_015021.3(ZNF292):c.5083A>C (p.Asn1695His)
NM_015021.3(ZNF292):c.7021T>A (p.Leu2341Ile) rs1270393952
NM_015049.3(TRAK2):c.980A>T (p.His327Leu)
NM_015080.4(NRXN2):c.1334A>G (p.Asn445Ser)
NM_015080.4(NRXN2):c.2329T>A (p.Ser777Thr) rs2135485362
NM_015080.4(NRXN2):c.4142G>A (p.Arg1381His)
NM_015080.4(NRXN2):c.589_591delinsATA (p.Leu197Ile) rs2135674847
NM_015100.4(POGZ):c.1139G>A (p.Cys380Tyr) rs2102277991
NM_015100.4(POGZ):c.1790A>G (p.Tyr597Cys)
NM_015100.4(POGZ):c.2931G>A (p.Lys977=)
NM_015100.4(POGZ):c.296T>C (p.Leu99Ser) rs1658557379
NM_015104.3(ATG2A):c.3131A>C (p.His1044Pro)
NM_015107.3(PHF8):c.817A>G (p.Asn273Asp)
NM_015166.4(MLC1):c.917T>G (p.Leu306Arg)
NM_015215.4(CAMTA1):c.1550C>A (p.Pro517His)
NM_015215.4(CAMTA1):c.2657G>A (p.Gly886Glu) rs2149221544
NM_015215.4(CAMTA1):c.433G>A (p.Val145Met)
NM_015215.4(CAMTA1):c.4687C>T (p.Gln1563Ter) rs2150125399
NM_015215.4(CAMTA1):c.4864A>T (p.Ile1622Phe)
NM_015215.4(CAMTA1):c.959G>A (p.Gly320Asp)
NM_015267.4(CUX2):c.1487C>T (p.Ala496Val) rs1194307116
NM_015267.4(CUX2):c.1547C>G (p.Pro516Arg)
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015289.5(VPS39):c.2522G>T (p.Cys841Phe)
NM_015311.3(OBSL1):c.1738G>A (p.Asp580Asn)
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu) rs764385703
NM_015335.5(MED13L):c.3658G>A (p.Glu1220Lys)
NM_015335.5(MED13L):c.3930C>G (p.Ser1310Arg)
NM_015335.5(MED13L):c.747G>T (p.Lys249Asn) rs921393421
NM_015338.6(ASXL1):c.3238del (p.Leu1080fs) rs2145379138
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015355.4(SUZ12):c.1917T>G (p.Phe639Leu) rs2142222259
NM_015382.4(HECTD1):c.2774_2777del (p.Asn925fs)
NM_015382.4(HECTD1):c.5893C>T (p.Gln1965Ter)
NM_015382.4(HECTD1):c.7245C>A (p.Cys2415Ter)
NM_015409.5(EP400):c.1120C>T (p.Gln374Ter)
NM_015409.5(EP400):c.3883C>T (p.Arg1295Ter) rs2136533705
NM_015409.5(EP400):c.6026C>T (p.Ala2009Val) rs1418853123
NM_015409.5(EP400):c.6451-2A>G
NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys) rs2146302096
NM_015466.4(PTPN23):c.2692C>G (p.Arg898Gly) rs140769194
NM_015512.5(DNAH1):c.1252G>A (p.Ala418Thr)
NM_015557.3(CHD5):c.1207G>C (p.Glu403Gln)
NM_015557.3(CHD5):c.4260+8C>T
NM_015557.3(CHD5):c.5252A>G (p.His1751Arg)
NM_015559.3(SETBP1):c.1634A>T (p.Glu545Val)
NM_015559.3(SETBP1):c.4078A>G (p.Thr1360Ala) rs2145495174
NM_015559.3(SETBP1):c.4139T>C (p.Leu1380Pro)
NM_015570.4(AUTS2):c.309+8G>A rs1792285778
NM_015570.4(AUTS2):c.3587G>C (p.Arg1196Pro)
NM_015570.4(AUTS2):c.522+32G>A
NM_015634.4(KIFBP):c.47C>T (p.Ala16Val) rs1481458834
NM_015694.3(ZNF777):c.2168A>C (p.Lys723Thr)
NM_015695.3(BRPF3):c.1685del (p.Ala562fs)
NM_015898.4(ZBTB7A):c.808G>A (p.Gly270Ser)
NM_015912.4(FAM135B):c.526C>T (p.Gln176Ter)
NM_015937.6(PIGT):c.1034-18T>C rs2145454497
NM_015937.6(PIGT):c.245_246del (p.Leu82fs) rs2145433134
NM_016023.5(OTUD6B):c.316-1622G>A
NM_016107.5(ZFR):c.933dup (p.Ala312fs) rs2111784307
NM_016111.4(TELO2):c.662C>A (p.Ala221Asp) rs2141023618
NM_016148.5(SHANK1):c.2363C>G (p.Ser788Cys)
NM_016148.5(SHANK1):c.3181G>A (p.Ala1061Thr)
NM_016148.5(SHANK1):c.3865G>A (p.Asp1289Asn) rs2123081059
NM_016190.3(CRNN):c.77C>G (p.Thr26Arg)
NM_016194.4(GNB5):c.1103A>T (p.Asn368Ile)
NM_016219.5(MAN1B1):c.1722C>G (p.Phe574Leu)
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.9872T>C (p.Leu3291Pro)
NM_016284.5(CNOT1):c.1300C>G (p.Leu434Val) rs753327776
NM_016284.5(CNOT1):c.1916A>G (p.Lys639Arg)
NM_016284.5(CNOT1):c.1972_1974del (p.Cys658del)
NM_016284.5(CNOT1):c.2906C>G (p.Pro969Arg)
NM_016284.5(CNOT1):c.83G>C (p.Ser28Thr)
NM_016333.4(SRRM2):c.2128C>A (p.Arg710Ser)
NM_016396.3(CTDSPL2):c.38del (p.Asn13fs)
NM_016396.3(CTDSPL2):c.691G>A (p.Ala231Thr) rs2140805588
NM_016580.4(PCDH12):c.309del (p.Cys104fs) rs1753206427
NM_016604.4(KDM3B):c.2125G>C (p.Ala709Pro) rs2126951192
NM_016604.4(KDM3B):c.2440_2441delinsTA (p.Thr814Tyr)
NM_016604.4(KDM3B):c.4022C>T (p.Ala1341Val)
NM_016604.4(KDM3B):c.734G>T (p.Arg245Ile) rs2126935013
NM_016628.5(WAC):c.1292_1294del (p.Gln431del)
NM_016642.4(SPTBN5):c.4618_4619del (p.Met1540fs)
NM_016816.4(OAS1):c.287G>A (p.Gly96Glu)
NM_017416.2(IL1RAPL2):c.1637_1638del (p.Asn545_Ser546insTer)
NM_017514.5(PLXNA3):c.589A>C (p.Ser197Arg)
NM_017596.4(KIF21B):c.3259C>T (p.His1087Tyr) rs759165397
NM_017602.4(OTUD5):c.*57C>T rs2063606990
NM_017612.5(ZCCHC8):c.868G>A (p.Val290Ile)
NM_017617.5(NOTCH1):c.1334C>T (p.Thr445Met)
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.2467+5G>A rs2133357901
NM_017635.5(KMT5B):c.1208A>G (p.Lys403Arg)
NM_017635.5(KMT5B):c.1243A>T (p.Met415Leu)
NM_017635.5(KMT5B):c.2270del (p.Leu757fs) rs2153040093
NM_017635.5(KMT5B):c.2423T>G (p.Leu808Arg)
NM_017637.6(BNC2):c.2164T>G (p.Tyr722Asp)
NM_017672.6(TRPM7):c.3136G>C (p.Gly1046Arg)
NM_017719.5(SNRK):c.1745G>A (p.Gly582Asp) rs2091290924
NM_017721.5(CC2D1A):c.2168G>A (p.Arg723His)
NM_017721.5(CC2D1A):c.2605C>T (p.Arg869Trp)
NM_017721.5(CC2D1A):c.2788-12C>T rs1403852351
NM_017730.4(QRICH1):c.1498A>G (p.Arg500Gly) rs2093343142
NM_017757.3(ZNF407):c.2204T>C (p.Leu735Pro)
NM_017757.3(ZNF407):c.857_861del (p.Lys286fs)
NM_017780.4(CHD7):c.-175G>A
NM_017780.4(CHD7):c.238A>G (p.Met80Val)
NM_017780.4(CHD7):c.262A>G (p.Arg88Gly) rs1015190633
NM_017780.4(CHD7):c.3323A>G (p.His1108Arg) rs2150752559
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val) rs1184188163
NM_017831.4(RNF125):c.181A>T (p.Ile61Phe) rs2144463305
NM_017882.3(CLN6):c.669C>G (p.Tyr223Ter) rs374271754
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017934.7(PHIP):c.1405G>T (p.Val469Leu)
NM_017934.7(PHIP):c.1654-6T>C rs778036662
NM_017934.7(PHIP):c.187C>T (p.Leu63=) rs1774230017
NM_017934.7(PHIP):c.2202-10_2202-8delinsGG
NM_017934.7(PHIP):c.797A>G (p.His266Arg) rs1270288366
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017951.5(SMPD4):c.190G>A (p.Val64Ile)
NM_017951.5(SMPD4):c.593C>T (p.Thr198Ile)
NM_018026.4(PACS1):c.2381C>G (p.Ala794Gly) rs2134748864
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1850del (p.Pro617fs)
NM_018085.5(IPO9):c.392C>T (p.Ala131Val)
NM_018136.5(ASPM):c.358G>A (p.Glu120Lys)
NM_018136.5(ASPM):c.8204T>C (p.Phe2735Ser)
NM_018196.4(TMLHE):c.693C>T (p.Asp231=)
NM_018255.4(ELP2):c.1095G>A (p.Leu365=)
NM_018255.4(ELP2):c.1700G>A (p.Gly567Asp)
NM_018263.6(ASXL2):c.107A>G (p.Gln36Arg) rs2149193278
NM_018263.6(ASXL2):c.1241T>C (p.Val414Ala) rs2088023783
NM_018263.6(ASXL2):c.1709C>G (p.Ser570Cys) rs2149140614
NM_018328.5(MBD5):c.1851T>C (p.His617=) rs372533114
NM_018347.3(AP5S1):c.221G>A (p.Arg74Gln)
NM_018486.3(HDAC8):c.4G>T (p.Glu2Ter)
NM_018489.3(ASH1L):c.4343G>A (p.Arg1448Gln)
NM_018489.3(ASH1L):c.5860C>T (p.Pro1954Ser) rs778032007
NM_018489.3(ASH1L):c.6667A>G (p.Asn2223Asp)
NM_018489.3(ASH1L):c.68C>G (p.Pro23Arg) rs908343803
NM_018847.4(KLHL9):c.1778C>A (p.Thr593Lys)
NM_019026.6(TMCO1):c.147dup (p.Leu50fs) rs777163859
NM_019040.5(ELP4):c.*2556T>C
NM_019045.5(WDR44):c.2627T>A (p.Val876Asp) rs1331397024
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[3] (p.Pro462_Ala463insProValIleArgGlnAlaPro)
NM_019066.5(MAGEL2):c.1797_1798del (p.Glu599fs) rs1890391528
NM_019066.5(MAGEL2):c.2161T>A (p.Cys721Ser) rs2140714182
NM_019066.5(MAGEL2):c.2339C>G (p.Pro780Arg)
NM_019066.5(MAGEL2):c.3478G>A (p.Val1160Met)
NM_019066.5(MAGEL2):c.934G>A (p.Ala312Thr)
NM_019066.5(MAGEL2):c.980C>T (p.Ala327Val)
NM_019100.5(DMAP1):c.1344+3A>G
NM_019100.5(DMAP1):c.394-1G>C
NM_019114.5(EPB41L4B):c.389del (p.Phe130fs)
NM_019597.5(HNRNPH2):c.476T>A (p.Phe159Tyr)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019842.4(KCNQ5):c.1819G>A (p.Val607Ile)
NM_019842.4(KCNQ5):c.2228del (p.Ala743fs) rs2150527930
NM_020123.4(TM9SF3):c.909_910insTGTTCTGGATGTCAGATATTTGCT (p.Ala303_Val304insCysSerGlyCysGlnIlePheAla) rs2134143642
NM_020177.3(FEM1C):c.1103A>G (p.Gln368Arg)
NM_020180.4(CELF4):c.796C>T (p.Gln266Ter)
NM_020297.4(ABCC9):c.1664T>C (p.Phe555Ser) rs1947296046
NM_020320.5(RARS2):c.761G>C (p.Arg254Pro)
NM_020338.4(ZMIZ1):c.-226-43G>A rs1180391537
NM_020338.4(ZMIZ1):c.1175G>C (p.Gly392Ala)
NM_020338.4(ZMIZ1):c.1336C>T (p.Pro446Ser)
NM_020338.4(ZMIZ1):c.1921C>T (p.Arg641Cys)
NM_020338.4(ZMIZ1):c.2083C>T (p.Leu695Phe) rs1854350169
NM_020338.4(ZMIZ1):c.2615A>G (p.Tyr872Cys) rs1043492653
NM_020338.4(ZMIZ1):c.721C>T (p.Arg241Trp)
NM_020338.4(ZMIZ1):c.957G>A (p.Pro319=) rs1853552678
NM_020343.4(RALGAPA2):c.1288T>C (p.Tyr430His)
NM_020435.4(GJC2):c.647A>G (p.Gln216Arg)
NM_020436.5(SALL4):c.2078del (p.Val693fs) rs2122962179
NM_020458.4(TTC7A):c.1318T>C (p.Cys440Arg)
NM_020458.4(TTC7A):c.2470dup (p.Gln824fs) rs768053395
NM_020546.3(ADCY2):c.1025A>G (p.Tyr342Cys)
NM_020653.4(ZNF287):c.2195A>G (p.Tyr732Cys)
NM_020655.4(JPH3):c.311G>A (p.Gly104Glu)
NM_020699.4(GATAD2B):c.1379G>A (p.Arg460Gln) rs1036140299
NM_020699.4(GATAD2B):c.729G>A (p.Gln243=) rs2101881311
NM_020699.4(GATAD2B):c.900+5G>C
NM_020702.5(MYORG):c.567C>G (p.Ala189=)
NM_020703.4(AMIGO1):c.1136G>A (p.Gly379Asp) rs2101060005
NM_020706.2(SCAF4):c.1925C>T (p.Ala642Val) rs2123514599
NM_020706.2(SCAF4):c.2549T>C (p.Leu850Pro) rs2123452479
NM_020706.2(SCAF4):c.2746G>A (p.Val916Ile) rs753776017
NM_020706.2(SCAF4):c.641C>G (p.Pro214Arg)
NM_020708.5(SLC12A5):c.2537G>A (p.Arg846Gln)
NM_020708.5(SLC12A5):c.978C>T (p.Phe326=)
NM_020719.3(PRR12):c.2783C>T (p.Pro928Leu)
NM_020719.3(PRR12):c.3325G>T (p.Asp1109Tyr)
NM_020719.3(PRR12):c.3568G>T (p.Ala1190Ser)
NM_020719.3(PRR12):c.5690T>C (p.Leu1897Pro) rs2122376985
NM_020719.3(PRR12):c.806C>T (p.Ser269Leu)
NM_020754.4(ARHGAP31):c.3278_3279del (p.Thr1093fs) rs2107647568
NM_020754.4(ARHGAP31):c.3657_3658delinsAT (p.Ser1220Cys)
NM_020754.4(ARHGAP31):c.3850G>A (p.Glu1284Lys)
NM_020759.3(STARD9):c.10595dup (p.Tyr3532Ter)
NM_020759.3(STARD9):c.13556G>A (p.Trp4519Ter)
NM_020759.3(STARD9):c.13916G>A (p.Arg4639His)
NM_020759.3(STARD9):c.3323C>G (p.Ser1108Ter) rs2140227873
NM_020759.3(STARD9):c.6107_6110del (p.Lys2036fs)
NM_020759.3(STARD9):c.6398T>C (p.Met2133Thr)
NM_020771.4(HACE1):c.2552dup (p.Gly852fs) rs745394044
NM_020791.4(TAOK1):c.169A>C (p.Lys57Gln) rs2153025665
NM_020791.4(TAOK1):c.233A>G (p.Lys78Arg)
NM_020791.4(TAOK1):c.2362-1G>T rs2150774748
NM_020791.4(TAOK1):c.2564C>T (p.Ala855Val)
NM_020791.4(TAOK1):c.451G>C (p.Asp151His)
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020832.3(ZNF687):c.3049G>T (p.Glu1017Ter)
NM_020843.4(SCAPER):c.42A>G (p.Val14=) rs982643337
NM_020871.4(LRCH2):c.1948C>T (p.Arg650Ter)
NM_020922.5(WNK3):c.831G>A (p.Lys277=)
NM_020928.2(ZSWIM6):c.2646C>G (p.Leu882=)
NM_020928.2(ZSWIM6):c.646A>G (p.Ser216Gly) rs1234718171
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs) rs2084966849
NM_020987.5(ANK3):c.7243C>T (p.Pro2415Ser) rs1196476571
NM_021072.4(HCN1):c.1230+1G>T rs1739690273
NM_021072.4(HCN1):c.1923T>A (p.Tyr641Ter)
NM_021072.4(HCN1):c.279C>T (p.Phe93=) rs2112108977
NM_021120.4(DLG3):c.1871-10C>T
NM_021224.6(ZNF462):c.2051C>T (p.Pro684Leu) rs2131465462
NM_021224.6(ZNF462):c.2656T>C (p.Tyr886His)
NM_021224.6(ZNF462):c.3649C>T (p.Arg1217Ter) rs1490120963
NM_021224.6(ZNF462):c.4997A>C (p.Lys1666Thr) rs2131508434
NM_021224.6(ZNF462):c.5098G>A (p.Ala1700Thr) rs770876120
NM_021224.6(ZNF462):c.7430T>C (p.Ile2477Thr) rs2132819578
NM_021224.6(ZNF462):c.890C>G (p.Thr297Ser) rs1830123953
NM_021614.4(KCNN2):c.842C>G (p.Ser281Cys)
NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys) rs778014423
NM_021926.4(ALX4):c.793C>T (p.Arg265Ter) rs267606653
NM_021956.5(GRIK2):c.55C>A (p.Leu19Ile)
NM_021956.5(GRIK2):c.581G>A (p.Arg194Lys)
NM_021962.5(ABR):c.2175C>G (p.Phe725Leu)
NM_021964.3(ZNF148):c.2272C>T (p.Arg758Trp)
NM_022143.5(LRRC4):c.426_438delinsTGACAGTCA (p.Phe143fs)
NM_022455.5(NSD1):c.4431T>C (p.Ala1477=)
NM_022455.5(NSD1):c.5506_5509del (p.Lys1836fs) rs2149934723
NM_022455.5(NSD1):c.911C>A (p.Ser304Ter) rs2149757179
NM_022455.5(NSD1):c.927+5G>A rs2149757213
NM_022552.5(DNMT3A):c.2146G>A (p.Val716Ile) rs1418039680
NM_022552.5(DNMT3A):c.2726T>C (p.Phe909Ser) rs1673065619
NM_022553.6(VPS52):c.373C>T (p.Arg125Ter)
NM_022553.6(VPS52):c.64G>A (p.Asp22Asn)
NM_022841.7(RFX7):c.125C>T (p.Ala42Val) rs1167732658
NM_022893.4(BCL11A):c.1715G>A (p.Arg572His)
NM_022893.4(BCL11A):c.784A>C (p.Thr262Pro)
NM_023034.2(NSD3):c.388C>G (p.Pro130Ala) rs1426067826
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val) rs376921992
NM_024007.5(EBF1):c.625C>T (p.Arg209Trp)
NM_024105.4(ALG12):c.469G>C (p.Val157Leu)
NM_024165.3(PHF1):c.562T>C (p.Tyr188His)
NM_024408.4(NOTCH2):c.6160A>T (p.Met2054Leu) rs774262327
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024490.4(ATP10A):c.713A>T (p.Asn238Ile) rs2140488785
NM_024496.4(IRF2BPL):c.-338C>T
NM_024496.4(IRF2BPL):c.1364C>T (p.Ser455Leu)
NM_024589.3(ROGDI):c.533G>T (p.Arg178Leu) rs751703075
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024721.5(ZFHX4):c.868A>G (p.Ile290Val)
NM_024757.5(EHMT1):c.1451T>C (p.Leu484Pro)
NM_024852.4(AGO3):c.673T>C (p.Phe225Leu) rs1640244300
NM_024989.4(PGAP1):c.1155T>G (p.Tyr385Ter) rs1430249191
NM_024989.4(PGAP1):c.2209A>G (p.Ile737Val)
NM_024989.4(PGAP1):c.2441G>A (p.Arg814His)
NM_025074.7(FRAS1):c.4386A>C (p.Glu1462Asp) rs1733407267
NM_025074.7(FRAS1):c.7522+2_7522+4del rs1719735626
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025144.4(ALPK1):c.1152A>C (p.Glu384Asp)
NM_025257.3(SLC44A4):c.37T>C (p.Tyr13His) rs2151577431
NM_030632.3(ASXL3):c.6254C>G (p.Ser2085Cys)
NM_030662.4(MAP2K2):c.829G>A (p.Ala277Thr)
NM_030665.4(RAI1):c.1615C>A (p.Pro539Thr) rs1567918350
NM_030912.3(TRIM8):c.35A>C (p.Glu12Ala) rs2135973577
NM_031206.7(LAS1L):c.846+5G>C
NM_031372.4(HNRNPDL):c.980_1000del (p.Ala327_Gly333del) rs752233461
NM_031407.7(HUWE1):c.10499C>T (p.Thr3500Ile)
NM_031407.7(HUWE1):c.11166CTT[1] (p.Phe3723del)
NM_031407.7(HUWE1):c.12782A>C (p.Asp4261Ala)
NM_031407.7(HUWE1):c.1780-16T>G rs2148851437
NM_031407.7(HUWE1):c.431G>A (p.Arg144Lys)
NM_031407.7(HUWE1):c.559C>G (p.His187Asp)
NM_031407.7(HUWE1):c.5648A>G (p.Asp1883Gly)
NM_031407.7(HUWE1):c.6362A>C (p.Gln2121Pro) rs1266542632
NM_031407.7(HUWE1):c.7398A>G (p.Glu2466=)
NM_031454.2(SELENOO):c.441G>C (p.Gln147His)
NM_031475.3(ESPN):c.1870_1891delinsT (p.Ala624_Arg631delinsCys) rs2148534054
NM_031844.3(HNRNPU):c.944G>A (p.Ser315Asn)
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032108.4(SEMA6B):c.1114C>T (p.Arg372Ter) rs2145352034
NM_032119.4(ADGRV1):c.506T>C (p.Leu169Pro) rs1363483604
NM_032188.3(KAT8):c.919G>A (p.Glu307Lys)
NM_032199.3(ARID5B):c.3381_3382del (p.Gly1129fs)
NM_032217.5(ANKRD17):c.1083G>A (p.Glu361=) rs2148878942
NM_032217.5(ANKRD17):c.2229+18A>G
NM_032217.5(ANKRD17):c.3281G>A (p.Gly1094Asp)
NM_032217.5(ANKRD17):c.7664T>C (p.Ile2555Thr)
NM_032217.5(ANKRD17):c.940G>A (p.Val314Ile)
NM_032221.5(CHD6):c.5882_5895del (p.Lys1961fs) rs2145462164
NM_032227.4(TMEM164):c.587-1G>C rs2067229320
NM_032242.4(PLXNA1):c.1523C>A (p.Thr508Lys)
NM_032242.4(PLXNA1):c.2164G>A (p.Val722Ile)
NM_032436.4(CHAMP1):c.1166C>G (p.Ser389Ter) rs2139420368
NM_032436.4(CHAMP1):c.1969C>T (p.Gln657Ter) rs863225074
NM_032436.4(CHAMP1):c.2002G>C (p.Glu668Gln)
NM_032436.4(CHAMP1):c.490T>C (p.Ser164Pro)
NM_032436.4(CHAMP1):c.911C>T (p.Ala304Val) rs782422313
NM_032458.3(PHF6):c.*1439C>G rs1253778092
NM_032482.3(DOT1L):c.2691+1G>A rs2144878433
NM_032590.5(KDM2B):c.64_65del (p.Glu22fs)
NM_032608.7(MYO18B):c.103G>T (p.Gly35Trp) rs771717793
NM_032656.4(DHX37):c.1591-1G>C rs2135947068
NM_032758.4(PHF5A):c.110_111del (p.Val37fs)
NM_032776.3(JMJD1C):c.3694T>G (p.Leu1232Val) rs1846855738
NM_032776.3(JMJD1C):c.411T>G (p.Asp137Glu) rs561459877
NM_032776.3(JMJD1C):c.4394G>A (p.Ser1465Asn) rs1444032255
NM_032776.3(JMJD1C):c.4999G>T (p.Asp1667Tyr) rs779931368
NM_032776.3(JMJD1C):c.6221C>T (p.Ala2074Val)
NM_032776.3(JMJD1C):c.7576G>C (p.Ala2526Pro)
NM_032801.5(JAM3):c.409+5G>A
NM_032808.7(LINGO1):c.244C>T (p.Arg82Cys) rs2142484967
NM_032843.5(FIBCD1):c.644G>A (p.Arg215Gln)
NM_032843.5(FIBCD1):c.676C>A (p.Pro226Thr)
NM_032892.5(FRMD5):c.510_516del (p.Leu171fs)
NM_032905.5(RBM17):c.973G>T (p.Glu325Ter)
NM_033026.6(PCLO):c.15166A>T (p.Met5056Leu)
NM_033026.6(PCLO):c.4726G>C (p.Glu1576Gln) rs200242448
NM_033071.5(SYNE1):c.5852A>C (p.Gln1951Pro) rs1483236627
NM_033215.5(PPP1R3F):c.386A>G (p.Glu129Gly)
NM_033225.6(CSMD1):c.677C>G (p.Ser226Ter)
NM_033380.3(COL4A5):c.2294del (p.Pro765fs) rs2066735315
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_052867.4(NALCN):c.4780A>G (p.Ile1594Val)
NM_052876.4(NACC1):c.730G>A (p.Gly244Ser)
NM_052897.4(MBD6):c.2632C>T (p.Arg878Ter)
NM_057175.5(NAA15):c.1841dup (p.Asn614fs) rs1283385686
NM_058004.4(PI4KA):c.4289-1269G>A
NM_078629.4(MSL3):c.367G>C (p.Glu123Gln) rs1455131872
NM_080473.5(GATA5):c.1045G>C (p.Gly349Arg)
NM_080632.3(UPF3B):c.1174G>T (p.Glu392Ter) rs1472437659
NM_130466.4(UBE3B):c.3141G>C (p.Lys1047Asn) rs2136156549
NM_130837.3(OPA1):c.1681+5G>A rs1553878576
NM_130839.5(UBE3A):c.1457A>G (p.Lys486Arg)
NM_134261.3(RORA):c.1092_1095dup (p.Ile366fs) rs2065374158
NM_134261.3(RORA):c.284G>A (p.Gly95Asp) rs2141338093
NM_134428.3(RFX3):c.223A>G (p.Thr75Ala) rs2130885764
NM_138422.4(ADAT3):c.24_37del (p.Pro10fs) rs752360082
NM_138459.5(NUS1):c.415+1G>A rs1772975334
NM_138459.5(NUS1):c.734G>T (p.Gly245Val) rs1773460199
NM_138459.5(NUS1):c.752T>G (p.Leu251Ter) rs1773460504
NM_138501.6(TECR):c.800-3C>T
NM_138576.4(BCL11B):c.461C>T (p.Ala154Val)
NM_138576.4(BCL11B):c.655T>C (p.Ser219Pro)
NM_138694.4(PKHD1):c.5941A>G (p.Ile1981Val) rs1233590429
NM_138775.3(ALKBH8):c.1100C>A (p.Ala367Asp)
NM_138775.3(ALKBH8):c.437C>T (p.Ser146Phe)
NM_138927.4(SON):c.2449G>T (p.Ala817Ser) rs2085793292
NM_138927.4(SON):c.5006C>T (p.Pro1669Leu)
NM_139058.3(ARX):c.1623G>C (p.Glu541Asp) rs1487981076
NM_139058.3(ARX):c.868T>A (p.Ser290Thr)
NM_139278.4(LGI3):c.1496G>A (p.Arg499Gln)
NM_139278.4(LGI3):c.665-2A>G
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734
NM_144973.4(DENND5B):c.3724C>T (p.Arg1242Ter)
NM_145865.3(ANKS4B):c.866A>T (p.Asp289Val)
NM_152263.4(TPM3):c.451G>A (p.Glu151Lys) rs2148242094
NM_152424.4(AMER1):c.3406T>C (p.Ter1136Gln) rs1930203030
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152594.3(SPRED1):c.-134C>T
NM_152594.3(SPRED1):c.620G>C (p.Arg207Thr) rs2141014869
NM_152641.4(ARID2):c.3938A>C (p.Gln1313Pro) rs2138175703
NM_152641.4(ARID2):c.4871C>T (p.Pro1624Leu)
NM_152683.4(PRIMPOL):c.1328A>G (p.Tyr443Cys)
NM_152743.4(BRAT1):c.545G>A (p.Gly182Glu) rs148598276
NM_152911.4(PAOX):c.1360C>G (p.Gln454Glu)
NM_153252.5(BRWD3):c.164G>A (p.Arg55Lys) rs2147875484
NM_153252.5(BRWD3):c.2691G>T (p.Arg897Ser)
NM_153759.3(DNMT3A):c.1937C>T (p.Thr646Met) rs1489843853
NM_153827.5(MINK1):c.3749A>C (p.Gln1250Pro)
NM_170606.3(KMT2C):c.6347T>C (p.Phe2116Ser)
NM_170606.3(KMT2C):c.7431del (p.His2478fs) rs2129117914
NM_170606.3(KMT2C):c.9101C>G (p.Pro3034Arg)
NM_170675.5(MEIS2):c.754+2T>C rs1892542522
NM_170707.4(LMNA):c.1968+1del
NM_170784.3(MKKS):c.624_625del (p.Arg208fs) rs762613490
NM_172069.4(PLEKHH2):c.155C>G (p.Ala52Gly)
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_173348.2(FAM149B1):c.1023+35G>T
NM_173495.3(PTCHD1):c.116T>A (p.Leu39His)
NM_173495.3(PTCHD1):c.1199G>C (p.Arg400Thr)
NM_173495.3(PTCHD1):c.1946T>G (p.Leu649Trp)
NM_173602.3(DIP2B):c.888dup (p.Val297fs)
NM_173630.4(RTTN):c.2776G>A (p.Val926Met)
NM_173653.4(SLC9A9):c.1321C>T (p.Arg441Ter)
NM_173683.4(XKR6):c.1787C>G (p.Ala596Gly)
NM_173814.6(PRTG):c.3272C>T (p.Ser1091Phe)
NM_173814.6(PRTG):c.3444del (p.Asn1149fs)
NM_177559.3(CSNK2A1):c.982G>T (p.Val328Leu) rs2018101508
NM_177986.5(DSG4):c.82G>T (p.Glu28Ter) rs756862725
NM_178425.4(HDAC9):c.1910-2A>G
NM_178527.4(SLC9C2):c.1666A>G (p.Ile556Val)
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_181523.3(PIK3R1):c.1135A>G (p.Lys379Glu) rs2112257053
NM_181715.3(CRTC2):c.172C>T (p.Arg58Ter) rs1680557128
NM_182641.4(BPTF):c.2812A>G (p.Thr938Ala) rs2146676608
NM_182641.4(BPTF):c.28A>C (p.Lys10Gln)
NM_182641.4(BPTF):c.7063A>G (p.Thr2355Ala)
NM_182641.4(BPTF):c.859C>T (p.His287Tyr)
NM_182710.3(KAT5):c.1534G>A (p.Asp512Asn)
NM_182925.5(FLT4):c.3298T>C (p.Phe1100Leu) rs2127797353
NM_182931.3(KMT2E):c.2170C>T (p.Pro724Ser)
NM_182931.3(KMT2E):c.2229T>G (p.Asn743Lys)
NM_182931.3(KMT2E):c.3002C>G (p.Thr1001Arg) rs751513289
NM_182931.3(KMT2E):c.3719C>T (p.Ala1240Val) rs1219590013
NM_182931.3(KMT2E):c.3840T>G (p.Asp1280Glu)
NM_182931.3(KMT2E):c.3908C>T (p.Ser1303Leu)
NM_182931.3(KMT2E):c.5153C>T (p.Pro1718Leu) rs1799386566
NM_182931.3(KMT2E):c.769G>T (p.Gly257Cys)
NM_182943.3(PLOD2):c.1670A>G (p.Asn557Ser)
NM_182961.4(SYNE1):c.21263T>G (p.Leu7088Trp)
NM_182972.3(IRF2BP2):c.616G>T (p.Gly206Cys) rs772956890
NM_183075.3(CYP2U1):c.1584del (p.Phe528fs)
NM_183353.3(RLIM):c.*1380C>T rs778243260
NM_197968.4(ZMYM2):c.2351G>A (p.Arg784His) rs2140575434
NM_197968.4(ZMYM2):c.3972T>G (p.Val1324=)
NM_198253.3(TERT):c.329G>C (p.Gly110Ala) rs1751262771
NM_198407.2(GHSR):c.25G>A (p.Glu9Lys) rs762767250
NM_198503.5(KCNT2):c.1067G>A (p.Arg356Gln)
NM_198503.5(KCNT2):c.1616G>T (p.Gly539Val)
NM_198503.5(KCNT2):c.2182G>A (p.Ala728Thr)
NM_198503.5(KCNT2):c.2874C>G (p.Ile958Met) rs1214879833
NM_198525.3(KIF7):c.2059C>T (p.Arg687Ter) rs138736028
NM_198535.3(ZNF699):c.1328G>A (p.Arg443Gln)
NM_198535.3(ZNF699):c.144G>A (p.Met48Ile)
NM_198535.3(ZNF699):c.1534T>C (p.Phe512Leu)
NM_198859.4(PRICKLE2):c.1502C>T (p.Pro501Leu)
NM_198880.3(QRICH1):c.1265C>T (p.Pro422Leu)
NM_199000.3(LHFPL3):c.223C>T (p.Leu75Phe)
NM_201521.3(KLC4):c.553G>T (p.Glu185Ter) rs1033630760
NM_201599.3(ZMYM3):c.1460C>T (p.Ala487Val)
NM_201599.3(ZMYM3):c.446C>T (p.Pro149Leu)
NM_201599.3(ZMYM3):c.507A>T (p.Arg169Ser)
NM_203290.4(POLR1C):c.293C>T (p.Thr98Ile) rs1174079439
NM_203290.4(POLR1C):c.647A>G (p.Lys216Arg) rs2127690526
NM_203290.4(POLR1C):c.88C>G (p.Pro30Ala)
NM_203499.3(DDX42):c.793dup (p.Met265fs)
NM_205768.3(ZBTB18):c.299A>G (p.Asp100Gly) rs2148556202
NM_206923.4(YY2):c.475G>A (p.Gly159Ser)
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala) rs1657955894
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys) rs1414251456
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207396.3(RNF207):c.1744G>A (p.Gly582Arg)

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