ClinVar Miner

List of variants reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2546
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001059.3(TACR3):c.824G>A (p.Trp275Ter) rs144292455 0.00039
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) rs104893842 0.00021
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251 0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter) rs370167241 0.00016
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_001905.4(CTPS1):c.1692-1G>C rs145092287 0.00015
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00014
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 0.00014
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_018294.6(CWF19L1):c.964+1G>A rs587780326 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003124.5(SPR):c.751A>T (p.Lys251Ter) rs121917747 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_000048.4(ASL):c.544C>T (p.Arg182Ter) rs398123126 0.00005
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_001077418.3(TMEM231):c.664+4A>G rs760426025 0.00005
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001194998.2(CEP152):c.1155del (p.Thr386fs) rs587783414 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) rs377745714 0.00005
NM_018249.6(CDK5RAP2):c.4005-1G>A rs587783387 0.00005
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000197.2(HSD17B3):c.278-1G>C rs149607031 0.00004
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile) rs752078407 0.00004
NM_001395413.1(POR):c.723-2A>T rs782343026 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_005592.4(MUSK):c.79+2T>G rs200783529 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs) rs794726855 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter) rs192919234 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000320.3(QDPR):c.545+1G>A rs761619802 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) rs797045222 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_018075.5(ANO10):c.337+1G>A rs765592794 0.00003
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) rs373198092 0.00003
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) rs745582203 0.00003
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs) rs748931188 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000208.4(INSR):c.707A>G (p.His236Arg) rs121913145 0.00002
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960 0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser) rs781090024 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His) rs759012078 0.00002
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) rs773955314 0.00002
NM_001205254.2(OCLN):c.1037+1G>A rs748442113 0.00002
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter) rs769350713 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344 0.00002
NM_006031.6(PCNT):c.2347dup (p.Gln783fs) rs766116729 0.00002
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) rs1359618876 0.00002
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val) rs121918311 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) rs121918207 0.00002
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs) rs587783220 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) rs763862849 0.00002
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) rs587783652 0.00002
NC_000022.10:g.38522454delG rs587784329 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928 0.00001
NM_000038.6(APC):c.3149del (p.Ala1050fs) rs730882135 0.00001
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075 0.00001
NM_000053.4(ATP7B):c.2865+1G>A rs587783306 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619 0.00001
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His) rs777638364 0.00001
NM_000123.4(ERCC5):c.673-2A>G rs756420203 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000208.4(INSR):c.1610+2T>C rs797045624 0.00001
NM_000212.3(ITGB3):c.777+1G>A rs745766760 0.00001
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) rs587783753 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) rs763819379 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr) rs72559717 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser) rs1462559571 0.00001
NM_000352.6(ABCC8):c.970G>A (p.Val324Met) rs1328072266 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val) rs1283652721 0.00001
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg) rs1476500325 0.00001
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs) rs766536479 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter) rs587784376 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter) rs587780486 0.00001
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
NM_001258392.3(CLPB):c.829C>T (p.Arg277Ter) rs1466435969 0.00001
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) rs199747285 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_001754.5(RUNX1):c.352-1G>A rs587776809 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) rs779055639 0.00001
NM_003119.4(SPG7):c.988-1G>A rs748309520 0.00001
NM_003383.5(VLDLR):c.83-1G>A rs770269674 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332 0.00001
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) rs587784337 0.00001
NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile) rs587784338 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001
NM_003907.3(EIF2B5):c.820C>T (p.Arg274Ter) rs1334515681 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004820.5(CYP7B1):c.1081C>T (p.Arg361Ter) rs773976307 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_005186.4(CAPN1):c.843+1G>C rs781683198 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062 0.00001
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) rs587784320 0.00001
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321 0.00001
NM_006070.6(TFG):c.316C>T (p.Arg106Cys) rs587777175 0.00001
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter) rs746278774 0.00001
NM_016222.4(DDX41):c.946_947del (p.Met316fs) rs1411544367 0.00001
NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter) rs121918405 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter) rs796052414 0.00001
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.1530_1531del (p.Glu511fs) rs1404276011 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) rs774338373 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.3960_3961insA (p.Val1321fs) rs759632528 0.00001
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) rs751326753 0.00001
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter) rs1334947797 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) rs587783292 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter) rs587783392 0.00001
NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter) rs587780462 0.00001
NM_018344.6(SLC29A3):c.300+1G>A rs587780463 0.00001
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350 0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter) rs587783410 0.00001
NM_020461.4(TUBGCP6):c.2356C>T (p.Arg786Ter) rs772174079 0.00001
NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter) rs755196112 0.00001
NM_020921.4(NIN):c.2482del (p.Arg828fs) rs747680111 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys) rs587784154 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024989.4(PGAP1):c.927+1G>A rs750079325 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025099.6(CTC1):c.2452C>T (p.Arg818Ter) rs760884555 0.00001
NM_031448.6(C19orf12):c.161-2del rs1352744778 0.00001
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945 0.00001
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287 0.00001
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) rs769561386 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter) rs797046025 0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035 0.00001
NM_201525.4(ADGRG1):c.620+1G>A rs587783660 0.00001
NM_207346.3(TSEN54):c.1A>C (p.Met1Leu) rs587784478 0.00001
NM_000017.4(ACADS):c.795+1G>A rs752978753
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) rs387906236
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000044.6(AR):c.2323C>T (p.Arg775Cys) rs137852562
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.675_678del (p.Asn224_Tyr225insTer) rs2147317782
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) rs786202695
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter) rs1555119834
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.8397del (p.Gln2800fs) rs587781837
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000052.6(ATP7A):c.3152_3156delACGGAins4
NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter) rs797045325
NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs) rs797045327
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1355del (p.Val452fs) rs797045329
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter) rs797045330
NM_000052.7(ATP7A):c.1544-1G>A rs797045331
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs) rs797045333
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter) rs797045337
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1946+1G>C rs797045340
NM_000052.7(ATP7A):c.1946+5G>A rs797045341
NM_000052.7(ATP7A):c.1947-1G>C rs794729231
NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter) rs797045342
NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs) rs797045343
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter) rs797045346
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2173-2A>G rs797045349
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter) rs72554644
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs) rs797045352
NM_000052.7(ATP7A):c.2302del (p.Ala768fs) rs797045353
NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg) rs797045354
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs) rs797045355
NM_000052.7(ATP7A):c.2405_2406+1delinsT rs797045356
NM_000052.7(ATP7A):c.2498+2T>A rs797045357
NM_000052.7(ATP7A):c.2499-1G>A rs797045359
NM_000052.7(ATP7A):c.2499-1_2504dup rs797045358
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu) rs797045360
NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer) rs797045361
NM_000052.7(ATP7A):c.2916+3_2916+6del rs797045364
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del) rs797045366
NM_000052.7(ATP7A):c.3112-1G>A rs797045367
NM_000052.7(ATP7A):c.3124del (p.Val1042fs) rs797045368
NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly) rs797045369
NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu) rs797045370
NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter) rs797045372
NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter) rs797045373
NM_000052.7(ATP7A):c.3340del (p.Val1114fs) rs797045375
NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter) rs797045377
NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter) rs797045378
NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter) rs797045379
NM_000052.7(ATP7A):c.3537del (p.Val1180fs) rs797045380
NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu) rs797045382
NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer) rs797045383
NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs) rs797045384
NM_000052.7(ATP7A):c.3801+1G>T rs797045386
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg) rs797045388
NM_000052.7(ATP7A):c.3920del (p.Pro1307fs) rs797045389
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) rs797045390
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del) rs797045392
NM_000052.7(ATP7A):c.4123+1G>A rs797045393
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) rs797045395
NM_000052.7(ATP7A):c.4226+5G>A rs797045398
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter) rs797045399
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.876del (p.Ser293fs) rs797045400
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter) rs191312027
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3557-1G>C rs2138674428
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) rs80359451
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter) rs80358851
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs) rs80359641
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs) rs80359741
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000062.3(SERPING1):c.1081C>T (p.Gln361Ter)
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) rs1156634884
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000081.4(LYST):c.8802-2A>G
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del) rs121434319
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly) rs1555399968
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) rs1553690406
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1165G>C (p.Val389Leu) rs1350717554
NM_000162.5(GCK):c.1245del (p.His416fs) rs2128819113
NM_000162.5(GCK):c.1324G>T (p.Glu442Ter) rs758737171
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup) rs1554334433
NM_000162.5(GCK):c.1367C>T (p.Ala456Val) rs104894014
NM_000162.5(GCK):c.148C>T (p.His50Tyr) rs1562719705
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
NM_000162.5(GCK):c.606_607insACACCGT (p.Val203fs) rs2128821515
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.666del (p.Gly223fs) rs2096278285
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.678_679+2del rs1554335391
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.706G>A (p.Glu236Lys) rs587780347
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) rs1375656631
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000162.5(GCK):c.926T>C (p.Leu309Pro) rs2128820009
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000162.5(GCK):c.944T>A (p.Leu315His) rs193922338
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000165.5(GJA1):c.646G>T (p.Val216Leu) rs1554201043
NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter) rs772948115
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) rs1394634674
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1842del (p.Cys615fs) rs730881825
NM_000179.3(MSH6):c.1871del (p.Gly624fs) rs777159874
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000207.3(INS):c.-152C>G rs748749585
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) rs121913156
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) rs387906777
NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter) rs1555904591
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000233.4(LHCGR):c.35_36insCA (p.Lys12fs) rs2103767948
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs) rs797045711
NM_000252.3(MTM1):c.1015dup (p.Ser339fs) rs797045709
NM_000252.3(MTM1):c.1053+1G>C rs587783751
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.3(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter) rs1557414505
NM_000252.3(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.3(MTM1):c.1178dup (p.Leu393fs) rs1557414513
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.3(MTM1):c.1228G>T (p.Glu410Ter) rs17852824
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1260+1G>A rs587783768
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1261-1G>C rs587783770
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs) rs587783773
NM_000252.3(MTM1):c.1283del (p.Asn428fs) rs797045712
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.3(MTM1):c.1307del (p.Pro436fs) rs587783775
NM_000252.3(MTM1):c.130dup (p.Ile44fs) rs797045714
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.3(MTM1):c.1349_1353+4del rs797045715
NM_000252.3(MTM1):c.1353+1G>A rs587783779
NM_000252.3(MTM1):c.1353+2T>C rs587783780
NM_000252.3(MTM1):c.1354-1G>A rs587783782
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.3(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.3(MTM1):c.1467+1G>A rs587783798
NM_000252.3(MTM1):c.1467+1G>T rs587783798
NM_000252.3(MTM1):c.1467+2T>A rs587783799
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.3(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.3(MTM1):c.153_156del (p.Ile52fs) rs587783803
NM_000252.3(MTM1):c.154del (p.Ile52fs) rs587783804
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.3(MTM1):c.1792del (p.His598fs) rs34119065
NM_000252.3(MTM1):c.197C>T (p.Thr66Ile) rs2148434107
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.3(MTM1):c.231+1G>A rs587783810
NM_000252.3(MTM1):c.231+2T>G rs587783811
NM_000252.3(MTM1):c.232-1G>A rs587783812
NM_000252.3(MTM1):c.232-2A>C rs587783813
NM_000252.3(MTM1):c.232-3C>A rs587783814
NM_000252.3(MTM1):c.252del (p.Asp84fs) rs587783815
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.3(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.3(MTM1):c.342+1G>A rs1557413092
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.343-2A>G rs587783821
NM_000252.3(MTM1):c.397_398del (p.Met133fs) rs587783822
NM_000252.3(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.3(MTM1):c.402del (p.Phe134fs) rs587783824
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter) rs797045718
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.3(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.3(MTM1):c.465del (p.Asn155fs) rs1557413783
NM_000252.3(MTM1):c.469del (p.Glu157fs) rs587783827
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.3(MTM1):c.528+1G>T rs587783830
NM_000252.3(MTM1):c.529-2A>G rs587783831
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.3(MTM1):c.539_545del (p.Asn180fs) rs587783833
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.3(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.3(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.63+1G>A rs587783843
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.3(MTM1):c.64-1G>A rs587783846
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.678+1G>A rs587783849
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.3(MTM1):c.808_811del (p.Gln270fs) rs797045720
NM_000252.3(MTM1):c.814del (p.Ser272fs) rs1603192748
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.3(MTM1):c.867+1G>A rs587783858
NM_000252.3(MTM1):c.867_867+1dup rs797045721
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer) rs587783859
NM_000252.3(MTM1):c.912del (p.Glu305fs) rs587783860
NM_000252.3(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.3(MTM1):c.961_962del (p.Leu321fs) rs587783864
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.3(MTM1):c.96dup (p.Glu33Ter) rs797045724
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000273.3(GPR143):c.256_257delinsA (p.Val86fs) rs2146701042
NM_000273.3(GPR143):c.886-2A>T rs2146684328
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.122del (p.Gly41fs) rs1407174563
NM_000275.3(OCA2):c.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.1808del (p.Asn603fs) rs1476192724
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter) rs1554331461
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer) rs1554333636
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000314.8(PTEN):c.1016del (p.Pro339fs) rs1554825643
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000320.3(QDPR):c.447del (p.Tyr150fs) rs2108987721
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000352.3:c.85_1011+8del
NM_000352.6(ABCC8):c.1011+1G>T rs2133673996
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.1752del (p.His584fs) rs1554926539
NM_000352.6(ABCC8):c.1773C>G (p.Phe591Leu) rs72559726
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.2117-1G>A rs797045207
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs) rs1554917411
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp) rs779736828
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) rs1554909277
NM_000352.6(ABCC8):c.4119+1G>A rs797045211
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser) rs925231098
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu) rs193922401
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4174T>G (p.Phe1392Val) rs587783171
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs) rs1554904904
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg) rs1554904102
NM_000352.6(ABCC8):c.4515C>G (p.Asp1505Glu) rs751591418
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.4608+1G>A rs2133392952
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_000372.5(TYR):c.221_222del (p.Val74fs) rs767003400
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000377.3(WAS):c.192G>A (p.Trp64Ter) rs2147262855
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000384.3(APOB):c.10848del (p.Gly3617fs) rs982371659
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.452C>T (p.Thr151Met) rs104893694
NM_000407.5(GP1BB):c.1A>G (p.Met1Val) rs1389191920
NM_000407.5(GP1BB):c.448dup (p.Ala150fs) rs1360071443
NM_000417.3(IL2RA):c.301C>T (p.Gln101Ter) rs886041037
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys) rs61297109
NM_000430.4(PAFAH1B1):c.1002+1G>A rs113994203
NM_000430.4(PAFAH1B1):c.1002+5G>A rs587784235
NM_000430.4(PAFAH1B1):c.1003-30_1032del rs1555527743
NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr) rs587784236
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs) rs797045855
NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs) rs587784237
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs) rs587784238
NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn) rs587784239
NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs) rs587784240
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) rs587784241
NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr) rs587784242
NM_000430.4(PAFAH1B1):c.1159+1G>A rs1057520515
NM_000430.4(PAFAH1B1):c.1159+2T>A rs587784243
NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr) rs587784244
NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr) rs587784245
NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr) rs587784248
NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His) rs587784249
NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys) rs587784251
NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs) rs587784252
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs) rs587784253
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) rs113994198
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg) rs587784254
NM_000430.4(PAFAH1B1):c.164G>A (p.Trp55Ter) rs757993270
NM_000430.4(PAFAH1B1):c.190_192+5dup rs797045857
NM_000430.4(PAFAH1B1):c.192+1G>A rs587784256
NM_000430.4(PAFAH1B1):c.192+1G>T rs587784256
NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn) rs587784257
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.247_250dup (p.Pro84fs) rs2151660952
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) rs587784258
NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs) rs797045858
NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter) rs587784259
NM_000430.4(PAFAH1B1):c.33-3C>T rs587784260
NM_000430.4(PAFAH1B1):c.347dup (p.His117fs) rs797045859
NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp) rs587784261
NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter) rs587784262
NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val) rs587784263
NM_000430.4(PAFAH1B1):c.399+1G>A rs587784264
NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile) rs587784265
NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter) rs587784266
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter) rs587784267
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs) rs797045861
NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs) rs587784268
NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter) rs587784269
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs) rs1555526718
NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs) rs587784270
NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs) rs587784271
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs) rs587784271
NM_000430.4(PAFAH1B1):c.568+1G>A rs1555526733
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg) rs587784272
NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter) rs587784273
NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs) rs587784274
NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs) rs587784275
NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter) rs587784276
NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs) rs587784277
NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter) rs587784278
NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs) rs797045864
NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp) rs587784281
NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter) rs587784282
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) rs797045865
NM_000430.4(PAFAH1B1):c.708G>A (p.Trp236Ter) rs2151667800
NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs) rs587784284
NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs) rs797045866
NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs) rs797045867
NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter) rs587784285
NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter) rs587784286
NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs) rs797045868
NM_000430.4(PAFAH1B1):c.773_774del (p.Val258fs) rs797045869
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000430.4(PAFAH1B1):c.829dup (p.His277fs) rs797045870
NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg) rs587784288
NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter) rs369259961
NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter) rs587784289
NM_000430.4(PAFAH1B1):c.900+1G>A rs587784290
NM_000430.4(PAFAH1B1):c.910del (p.Ser304fs) rs587784292
NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs) rs797045871
NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs) rs797045872
NM_000434.4(NEU1):c.114_115del (p.Leu40fs) rs754405067
NM_000458.4(HNF1B):c.807_809+3del rs2147552486
NM_000463.3(UGT1A1):c.1043del (p.Asn348fs) rs745655794
NM_000463.3(UGT1A1):c.1084+1G>T rs587784535
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) rs72551340
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs) rs797046090
NM_000463.3(UGT1A1):c.269_270del (p.Glu90fs) rs2125985854
NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr) rs1373930486
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs) rs797046091
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000474.4(TWIST1):c.108del (p.Arg37fs) rs2115397200
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000516.7(GNAS):c.1012_1013insT (p.Lys338fs) rs2146300173
NM_000516.7(GNAS):c.283del (p.Ile95fs) rs2146178007
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.55C>T (p.Gln19Ter) rs2089380075
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.331_332del (p.Val111fs) rs2133380463
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.521C>G (p.Ala174Gly) rs587783670
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) rs587783672
NM_000525.4(KCNJ11):c.685G>A (p.Glu229Lys) rs587783673
NM_000525.4(KCNJ11):c.8C>G (p.Ser3Cys) rs587783674
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.4(KCNJ11):c.988T>C (p.Tyr330His) rs587783675
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs) rs1555790936
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14842C>A (p.Gln4948Lys) rs1555805633
NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer) rs797045931
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.3381+1G>A rs797045934
NM_000540.3(RYR1):c.4094dup (p.Glu1366fs) rs587784375
NM_000540.3(RYR1):c.6127+1G>A rs1283302989
NM_000540.3(RYR1):c.784G>T (p.Glu262Ter) rs1381186128
NM_000540.3(RYR1):c.8724C>A (p.Tyr2908Ter) rs797045935
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs) rs2135819653
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1147_1157del (p.Leu383fs) rs2135845949
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.326+1G>T rs2135820424
NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter) rs2135832792
NM_000545.8(HNF1A):c.526+1G>A rs1364708195
NM_000545.8(HNF1A):c.526+1G>C rs1364708195
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000546.5(TP53):c.2588dup rs1555523630
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter) rs45517140
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000702.4(ATP1A2):c.1639del (p.Glu547fs) rs1651730901
NM_000939.4(POMC):c.133-2A>C rs1553400259
NM_000939.4(POMC):c.34del (p.Leu12fs) rs1671498215
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs) rs1556016632
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs) rs797045646
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs) rs797045565
NM_001017420.3(ESCO2):c.911dup (p.Asn304fs) rs797045566
NM_001018115.3(FANCD2):c.1201del (p.Arg401fs) rs1553608812
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter) rs2125072527
NM_001024630.4(RUNX2):c.200_201insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAG (p.Glu72fs) rs2150362292
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001029896.2(WDR45):c.501del (p.Ser168fs) rs2147815668
NM_001029896.2(WDR45):c.516+1G>T rs797046102
NM_001029896.2(WDR45):c.827+2_827+3del rs797046103
NM_001032221.6(STXBP1):c.1029+1G>C rs727504173
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs) rs587784454
NM_001032221.6(STXBP1):c.87+2T>C rs1554775960
NM_001040142.2(SCN2A):c.11C>G (p.Ser4Ter) rs1553564144
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs) rs587780450
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.5335del (p.Phe1778_Leu1779insTer)
NM_001042492.3(NF1):c.843_844delinsTT (p.Gln282Ter) rs2143786391
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) rs886037663
NM_001070.5(TUBG1):c.1021C>T (p.Arg341Trp) rs1057518249
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter) rs587777646
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001082538.3(TCTN1):c.843+1del rs797046039
NM_001083116.3(PRF1):c.943_949del (p.Leu315fs) rs2132476060
NM_001083961.1(WDR62):c.1959_1960del rs1972523297
NM_001083961.2(WDR62):c.2084_2090dup (p.Ser698fs) rs587784546
NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter) rs587784549
NM_001083961.2(WDR62):c.3012_3034dup (p.Pro1012fs) rs1555723585
NM_001083961.2(WDR62):c.332+1G>A rs587784553
NM_001083962.2(TCF4):c.1146+1G>A rs587784458
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter) rs797046033
NM_001083962.2(TCF4):c.1498G>T (p.Gly500Ter) rs587784459
NM_001083962.2(TCF4):c.1663G>T (p.Glu555Ter) rs1555711142
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro) rs121909123
NM_001083962.2(TCF4):c.1834del (p.His612fs) rs1555710069
NM_001083962.2(TCF4):c.415del (p.Leu139fs) rs587784463
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter) rs587784464
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter) rs1064796853
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001083962.2(TCF4):c.655+1_655+2dup rs797046036
NM_001083962.2(TCF4):c.656-1G>C rs587784466
NM_001083962.2(TCF4):c.791del (p.Ser264fs) rs587784468
NM_001083962.2(TCF4):c.991-2A>G rs587784470
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu) rs587780272
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs) rs1554371369
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001109809.5(ZFP57):c.194_197dup (p.Val67fs) rs2127547308
NM_001109809.5(ZFP57):c.458del (p.Leu153fs) rs748137597
NM_001110556.2(FLNA):c.6245del (p.Leu2082fs) rs2148104758
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) rs1557135418
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs) rs1557135664
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter) rs267608569
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs) rs1557134720
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) rs267608600
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) rs267608609
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) rs63094662
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs) rs267608615
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) rs61753979
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs) rs267608634
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.251del (p.Pro84fs) rs61754441
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) rs797045693
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.701_707dup (p.Met236fs) rs797045695
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) rs267608513
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) rs61749739
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) rs1557136493
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.791del (p.Gly264fs) rs61750232
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs) rs797045694
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) rs1557136146
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) rs267608417
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs) rs1557135666
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs) rs1556863435
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter) rs1057520858
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter) rs2147027403
NM_001114753.3(ENG):c.1122dup (p.Glu375fs) rs2131885756
NM_001114753.3(ENG):c.1139_1142dup (p.Lys381fs) rs2131879366
NM_001114753.3(ENG):c.1429-1G>A rs2131876244
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter) rs797045445
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) rs137852974
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs) rs1554983076
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs) rs1555762869
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.5529-1268C>A rs765557914
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs) rs1553484094
NM_001128178.3(NPHP1):c.143+1G>A rs745806504
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001134407.3(GRIN2A):c.19dup (p.Trp7fs) rs2142391531
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs) rs1174482090
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs) rs1554689877
NM_001164508.2(NEB):c.1471-1G>A rs1553605995
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001164508.2(NEB):c.24996del (p.Gln8333fs) rs1553526884
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.3774+1G>A rs111293259
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.3723_3726del (p.Ile1240_Tyr1241insTer) rs1553531385
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) rs587780446
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001174096.2(ZEB1):c.1579dup (p.Val527fs) rs766305306
NM_001184.4(ATR):c.4641+1G>T rs797045403
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) rs797045873
NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter) rs797045969
NM_001194998.2(CEP152):c.2679del (p.Ser894fs) rs587783421
NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs) rs869312853
NM_001194998.2(CEP152):c.3016del (p.Thr1006fs) rs587783423
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) rs1555418825
NM_001195248.2(APTX):c.875-2A>G rs904293109
NM_001195553.2(DCX):c.1045-2A>G rs587783518
NM_001195553.2(DCX):c.115C>T (p.Arg39Ter) rs587783519
NM_001195553.2(DCX):c.124del (p.Thr42fs) rs587783520
NM_001195553.2(DCX):c.128T>C (p.Leu43Ser) rs587783521
NM_001195553.2(DCX):c.130C>T (p.Gln44Ter) rs587783522
NM_001195553.2(DCX):c.150G>T (p.Lys50Asn) rs587783523
NM_001195553.2(DCX):c.151_154del (p.Lys51fs) rs587783524
NM_001195553.2(DCX):c.176G>A (p.Arg59His) rs122457137
NM_001195553.2(DCX):c.182G>A (p.Gly61Glu) rs587783527
NM_001195553.2(DCX):c.210C>A (p.Tyr70Ter) rs587783532
NM_001195553.2(DCX):c.218C>T (p.Ser73Phe) rs587783533
NM_001195553.2(DCX):c.232C>T (p.Arg78Cys) rs587783535
NM_001195553.2(DCX):c.233G>T (p.Arg78Leu) rs104894784
NM_001195553.2(DCX):c.23_24del (p.His7_Phe8insTer) rs797045510
NM_001195553.2(DCX):c.265C>T (p.Arg89Ter) rs104894785
NM_001195553.2(DCX):c.266G>C (p.Arg89Pro) rs61729440
NM_001195553.2(DCX):c.272T>C (p.Leu91Pro) rs587783536
NM_001195553.2(DCX):c.280A>G (p.Asn94Asp) rs797045512
NM_001195553.2(DCX):c.290T>G (p.Leu97Arg) rs587783537
NM_001195553.2(DCX):c.299G>T (p.Gly100Val) rs587783538
NM_001195553.2(DCX):c.2T>C (p.Met1Thr) rs587783539
NM_001195553.2(DCX):c.301G>A (p.Val101Met) rs587783540
NM_001195553.2(DCX):c.304C>T (p.Arg102Cys) rs587783541
NM_001195553.2(DCX):c.305G>A (p.Arg102His) rs267606317
NM_001195553.2(DCX):c.310A>T (p.Ile104Phe) rs201870761
NM_001195553.2(DCX):c.339dup (p.Gly114fs) rs797045514
NM_001195553.2(DCX):c.355_356del (p.Leu119fs) rs1556404991
NM_001195553.2(DCX):c.364G>A (p.Gly122Arg) rs587783544
NM_001195553.2(DCX):c.386C>T (p.Ser129Leu) rs587783548
NM_001195553.2(DCX):c.391_393del (p.Asn131del) rs587783549
NM_001195553.2(DCX):c.409G>T (p.Glu137Ter) rs587783550
NM_001195553.2(DCX):c.412T>C (p.Tyr138His) rs587783551
NM_001195553.2(DCX):c.413A>G (p.Tyr138Cys) rs587783552
NM_001195553.2(DCX):c.451A>G (p.Lys151Glu) rs587783553
NM_001195553.2(DCX):c.451A>T (p.Lys151Ter) rs587783553
NM_001195553.2(DCX):c.478C>T (p.Gln160Ter) rs587783554
NM_001195553.2(DCX):c.478_479del (p.Gln160fs) rs587783555
NM_001195553.2(DCX):c.494_504del (p.Ser165fs) rs587783556
NM_001195553.2(DCX):c.520A>G (p.Lys174Glu) rs587783557
NM_001195553.2(DCX):c.528del (p.Phe176fs) rs797045515
NM_001195553.2(DCX):c.532C>G (p.Arg178Gly) rs587783558
NM_001195553.2(DCX):c.532C>T (p.Arg178Cys) rs587783558
NM_001195553.2(DCX):c.533G>T (p.Arg178Leu) rs587783559
NM_001195553.2(DCX):c.538A>G (p.Lys180Glu) rs587783560
NM_001195553.2(DCX):c.544G>T (p.Val182Phe) rs1556401951
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys) rs587783562
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001195553.2(DCX):c.557G>T (p.Arg186Leu) rs587783563
NM_001195553.2(DCX):c.55C>T (p.Arg19Ter) rs587783564
NM_001195553.2(DCX):c.572C>G (p.Pro191Arg) rs587783566
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) rs104894780
NM_001195553.2(DCX):c.578_585del (p.Lys193fs) rs587783567
NM_001195553.2(DCX):c.586C>A (p.Arg196Ser) rs587783568
NM_001195553.2(DCX):c.586C>G (p.Arg196Gly) rs587783568
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys) rs587783568
NM_001195553.2(DCX):c.607A>G (p.Thr203Ala) rs587783570
NM_001195553.2(DCX):c.608C>A (p.Thr203Lys) rs104894782
NM_001195553.2(DCX):c.611C>A (p.Ala204Asp) rs587783571
NM_001195553.2(DCX):c.628G>T (p.Val210Phe) rs587783573
NM_001195553.2(DCX):c.641T>C (p.Ile214Thr) rs587783574
NM_001195553.2(DCX):c.651del (p.Ile218fs) rs587783575
NM_001195553.2(DCX):c.666del (p.Val224fs) rs587783576
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) rs587783577
NM_001195553.2(DCX):c.670del (p.Val224fs) rs587783578
NM_001195553.2(DCX):c.681del (p.Lys227fs) rs587783579
NM_001195553.2(DCX):c.681dup (p.Leu228fs) rs587783579
NM_001195553.2(DCX):c.683T>C (p.Leu228Pro) rs587783580
NM_001195553.2(DCX):c.684_685del (p.Tyr229fs) rs1556401744
NM_001195553.2(DCX):c.685_699dup (p.Tyr229_Gly233dup) rs797045518
NM_001195553.2(DCX):c.705+1del rs1556401725
NM_001195553.2(DCX):c.734ATG[2] (p.Asp247del) rs587783583
NM_001195553.2(DCX):c.751G>T (p.Ala251Ser) rs587783585
NM_001195553.2(DCX):c.766A>T (p.Lys256Ter) rs587783586
NM_001195553.2(DCX):c.781C>T (p.Gln261Ter) rs587783588
NM_001195553.2(DCX):c.809-1G>A rs587783589
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter) rs587783590
NM_001195553.2(DCX):c.81_85dup (p.Pro29fs) rs797045519
NM_001195553.2(DCX):c.853A>T (p.Lys285Ter) rs587783591
NM_001195553.2(DCX):c.875dup (p.Thr293fs) rs797045520
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter) rs587783592
NM_001195553.2(DCX):c.95G>A (p.Ser32Asn) rs587783593
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter) rs782477344
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.2569G>T (p.Glu857Ter) rs2134270387
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs) rs587783676
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter) rs587783678
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs) rs797045656
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter) rs587783679
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001205254.2(OCLN):c.1037+5G>A rs797045840
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001242896.3(DEPDC5):c.4106G>A (p.Trp1369Ter) rs2149378392
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs) rs1553257236
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs) rs797045244
NM_001253852.3(AP4B1):c.313del (p.Ala105fs) rs587783179
NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs) rs797046060
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001272071.2(AP1S2):c.281del (p.Phe94fs) rs1555904182
NM_001272071.2(AP1S2):c.426+1G>T rs587777542
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys) rs797045674
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter) rs1557090161
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001282531.3(ADNP):c.69dup (p.Ser24Ter) rs2122840680
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.3109+1G>C rs2145471794
NM_001283009.2(RTEL1):c.3370del (p.His1124fs) rs1555814400
NM_001291415.2(KDM6A):c.1699del (p.Val567fs) rs797045642
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.2(KDM6A):c.3138del (p.Asn1046fs) rs2148118664
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs) rs587783398
NM_001323289.2(CDKL5):c.146-1G>A rs587783399
NM_001323289.2(CDKL5):c.155_156del (p.Glu52fs) rs2147139532
NM_001323289.2(CDKL5):c.1612_1613del (p.Thr538fs) rs2147160920
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs) rs1555952101
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs) rs587783401
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs) rs267608497
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_001330311.2(DVL1):c.1131C>A (p.Tyr377Ter) rs779477027
NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs) rs797045539
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter) rs797045584
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.606del (p.Gly203fs) rs1553709907
NM_001354712.2(THRB):c.1305T>G (p.His435Gln) rs1553609185
NM_001354712.2(THRB):c.700G>A (p.Ala234Thr) rs121918694
NM_001354712.2(THRB):c.830C>T (p.Thr277Ile) rs2148894604
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365902.3(NFIX):c.1080_1096del (p.Ser361fs) rs797045737
NM_001365902.3(NFIX):c.179del (p.Leu60fs) rs2145191753
NM_001365902.3(NFIX):c.927dup (p.Ser310fs) rs1555705733
NM_001365902.3(NFIX):c.970_971del (p.Lys324fs) rs797045738
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs) rs587783357
NM_001367721.1(CASK):c.1683dup (p.Ser562fs) rs2147151260
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter) rs1555980033
NM_001367721.1(CASK):c.1981del (p.Leu661fs) rs797045431
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.20_27del (p.Leu7fs) rs587783362
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter) rs749742837
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter) rs587783364
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs) rs797045433
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs) rs1555972628
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_001367721.1(CASK):c.430-2A>T rs587783366
NM_001367721.1(CASK):c.708+1G>A rs587783368
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter) rs587783371
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001371623.1(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs) rs587776585
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter) rs1554248236
NM_001374828.1(ARID1B):c.2109dup (p.Ser704fs) rs1554265319
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter) rs753933273
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter) rs797045272
NM_001374828.1(ARID1B):c.2675dup (p.Gln893fs) rs1554301230
NM_001374828.1(ARID1B):c.3618_3619del (p.Gly1207fs) rs2128317232
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter) rs1554231836
NM_001374828.1(ARID1B):c.3819del (p.Phe1273fs) rs1554231845
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter) rs1554234341
NM_001374828.1(ARID1B):c.4471C>T (p.Gln1491Ter) rs587779745
NM_001374828.1(ARID1B):c.4746del (p.Pro1583fs) rs587779746
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs) rs797045279
NM_001374828.1(ARID1B):c.5520del (p.Lys1841fs) rs797045280
NM_001374828.1(ARID1B):c.5522del (p.Lys1841fs) rs797045281
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.12115-1G>T rs769160407
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378778.1(MPDZ):c.755G>A (p.Trp252Ter) rs797045707
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val) rs797045634
NM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter) rs587784399
NM_001379110.1(SLC9A6):c.27del (p.Lys9fs) rs587784398
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs) rs775168204
NM_001382289.1(FSHB):c.236_237del (p.Val79fs) rs5030646
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_001382391.1(CSPP1):c.2829-9_2968+11del rs1554614893
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001386140.1(MTTP):c.708_709del (p.His236fs) rs1553926818
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001673.5(ASNS):c.413A>T (p.Asp138Val) rs797045306
NM_001673.5(ASNS):c.478del (p.Glu160fs) rs797045307
NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs) rs587780295
NM_001754.5(RUNX1):c.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001848.3(COL6A1):c.1003-2A>G rs797045477
NM_001904.4(CTNNB1):c.427_470dup (p.Lys158_Leu159insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys) rs1553630304
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.597+1G>A rs1555710005
NM_001987.5(ETV6):c.1153-1_1165del rs2136602093
NM_001987.5(ETV6):c.1153-2_1165del rs2136602130
NM_001987.5(ETV6):c.614del (p.Leu205fs) rs1555144911
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_002206.3(ITGA7):c.1088dup (p.His364fs) rs587780362
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer) rs1554150543
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs) rs749497185
NM_002474.3(MYH11):c.3422_3470del (p.Lys1141fs) rs797045725
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter) rs587784234
NM_002582.4(PARN):c.1006-2A>G rs1469272825
NM_002582.4(PARN):c.1257dup (p.Asn420Ter) rs942538351
NM_002582.4(PARN):c.1624del (p.Gln542fs) rs1341745986
NM_002582.4(PARN):c.24del (p.Phe8fs) rs1555512179
NM_002582.4(PARN):c.709C>T (p.Arg237Ter) rs760506977
NM_002582.4(PARN):c.811dup (p.Ser271fs) rs2151779880
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002894.3(RBBP8):c.604+1G>T rs587780432
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003042.4(SLC6A1):c.1324-2del rs2124936720
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile) rs797045974
NM_003070.5(SMARCA2):c.2853G>C (p.Lys951Asn) rs1554624100
NM_003072.5(SMARCA4):c.2922del (p.Phe975fs) rs797045980
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs) rs797045982
NM_003072.5(SMARCA4):c.4667del (p.Val1556fs) rs797045987
NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs) rs797045990
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.473_474del (p.Leu158fs) rs879253798
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003140.3(SRY):c.331C>T (p.Gln111Ter) rs1556370543
NM_003159.2(CDKL5):c.65dupG rs267608420
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003235.5(TG):c.266dup (p.Val90fs) rs1554649344
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) rs104894312
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln) rs104894311
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) rs1556235551
NM_003467.3(CXCR4):c.1012_1015dup (p.Ser339fs) rs2104915543
NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter) rs587783681
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11386del (p.Gln3796fs) rs587783683
NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter) rs797045658
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.12956_12957del (p.Arg4319fs) rs587783687
NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter) rs587783688
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.13518del (p.Ser4507fs) rs587783691
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter) rs587783696
NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter) rs587783697
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter) rs587783698
NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter) rs587783699
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter) rs587783705
NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter) rs587783708
NM_003482.4(KMT2D):c.2954_2955insT (p.Pro986fs) rs797045660
NM_003482.4(KMT2D):c.303del (p.Ser102fs) rs797045661
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.4(KMT2D):c.3553C>T (p.Gln1185Ter) rs587783712
NM_003482.4(KMT2D):c.3585dup (p.Pro1196fs) rs797045662
NM_003482.4(KMT2D):c.3591del (p.Thr1198fs) rs797045663
NM_003482.4(KMT2D):c.3695del (p.Pro1232fs) rs587783713
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter) rs727503987
NM_003482.4(KMT2D):c.400+1G>C rs587783714
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter) rs1555195441
NM_003482.4(KMT2D):c.4221del (p.Cys1408fs) rs587783715
NM_003482.4(KMT2D):c.4739del (p.Pro1580fs) rs587783719
NM_003482.4(KMT2D):c.4981dup (p.Glu1661fs) rs797045667
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.5713C>T (p.Gln1905Ter) rs2120560322
NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs) rs1555198491
NM_003482.4(KMT2D):c.6086del (p.Pro2029fs) rs587783723
NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter) rs556669370
NM_003482.4(KMT2D):c.6171dup (p.Ala2058fs) rs797045668
NM_003482.4(KMT2D):c.6172del (p.Ala2058fs) rs797045669
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6613delinsAA (p.Ala2205fs) rs2120542630
NM_003482.4(KMT2D):c.6670_6674del (p.Gly2224fs) rs587783725
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.836dup (p.Cys279fs) rs797045670
NM_003482.4(KMT2D):c.8445_8475dup (p.Ala2826fs) rs797045671
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.9540del (p.Glu3181fs) rs797045672
NM_003560.4(PLA2G6):c.1349-2A>G rs797045888
NM_003560.4(PLA2G6):c.1509del (p.Ser504fs) rs587784333
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs) rs587784336
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.2327_2328del (p.Thr776fs) rs587784352
NM_003560.4(PLA2G6):c.517C>T (p.Gln173Ter) rs587784357
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) rs587784361
NM_003560.4(PLA2G6):c.821T>G (p.Met274Arg) rs587784362
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.1332del (p.Lys444fs) rs587784231
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858
NM_003793.4(CTSF):c.843_844del (p.Ala282fs) rs1555058286
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) rs397514731
NM_003849.4(SUCLG1):c.507del (p.Asn171fs) rs797046017
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr) rs587783645
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.314_329del (p.Lys105fs) rs797045596
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.2:c.7661-14207_7700delinsCTGTTGCCTCCGGTTCTG
NM_004035.7(ACOX1):c.551C>G (p.Ser184Ter) rs780887410
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys) rs397514498
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu) rs397514499
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter) rs782246658
NM_004247.4(EFTUD2):c.1149+1G>C rs797045550
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) rs797045551
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter) rs1555564341
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004364.5(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.5(CEBPA):c.260_261dup (p.Gln88fs) rs2145263441
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs) rs1555742213
NM_004369.4(COL6A3):c.6181C>T (p.Arg2061Ter) rs797045479
NM_004380.2(CREBBP):c.(?_-23)_85+?del
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter) rs587783460
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter) rs1302427305
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter) rs587783463
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) rs587783464
NM_004380.3(CREBBP):c.1590del (p.Asn530fs) rs587783465
NM_004380.3(CREBBP):c.1821del (p.Lys607fs) rs587783467
NM_004380.3(CREBBP):c.2026del (p.Gln676fs) rs587783469
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs) rs587783470
NM_004380.3(CREBBP):c.2178dup (p.Met727fs) rs797045483
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter) rs587783471
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs) rs587783473
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs) rs797045484
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter) rs587783475
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs) rs797045485
NM_004380.3(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter) rs587783476
NM_004380.3(CREBBP):c.299del (p.Gly100fs) rs587783477
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys) rs797045487
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer) rs797045488
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter) rs587783478
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter) rs587783479
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter) rs797045489
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs) rs797045490
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs) rs797045491
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter) rs587783482
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3836+1G>A rs200782888
NM_004380.3(CREBBP):c.3914+1G>T rs1555475352
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
NM_004380.3(CREBBP):c.3983-2A>G rs587783486
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter) rs587783489
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter) rs587783490
NM_004380.3(CREBBP):c.4133+1G>A rs587783491
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter) rs147688139
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp) rs587783495
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys) rs587783497
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs) rs587783499
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs) rs587783500
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter) rs797045495
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter) rs587783505
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs) rs587783506
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs) rs587783507
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs) rs587783508
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs) rs797045498
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter) rs587783510
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs) rs797045499
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs) rs797045500
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs) rs797045502
NM_004380.3(CREBBP):c.86-1G>T rs11644721
NM_004380.3(CREBBP):c.86-2A>C rs587783515
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter) rs587783516
NM_004387.4(NKX2-5):c.471_472del (p.Phe157fs) rs587784066
NM_004387.4(NKX2-5):c.478_480delinsGTACCGTT (p.Gln160fs) rs797045790
NM_004387.4(NKX2-5):c.512T>G (p.Leu171Arg) rs797045791
NM_004387.4(NKX2-5):c.554G>T (p.Trp185Leu) rs797045792
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004429.5(EFNB1):c.128+2T>A rs1556096780
NM_004429.5(EFNB1):c.129-1G>T rs2147976439
NM_004429.5(EFNB1):c.562_563del (p.Thr188fs) rs1556107925
NM_004456.5(EZH2):c.1876G>A (p.Val626Met) rs587783625
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys) rs587783626
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter) rs797045568
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs) rs797045649
NM_004523.4(KIF11):c.112del (p.His38fs) rs1554859309
NM_004523.4(KIF11):c.2018dup (p.Glu674fs) rs1589604288
NM_004523.4(KIF11):c.2105del (p.Lys702fs) rs2135919274
NM_004523.4(KIF11):c.2160+1G>T rs1554862218
NM_004523.4(KIF11):c.2548-1G>A rs1554863016
NM_004523.4(KIF11):c.436A>T (p.Lys146Ter) rs797045650
NM_004523.4(KIF11):c.699-7_705del rs797045651
NM_004523.4(KIF11):c.868C>T (p.Gln290Ter) rs1554859966
NM_004525.3(LRP2):c.11276del (p.Cys3759fs) rs2105276037
NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs) rs797045920
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter) rs2068650679
NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs) rs1351986946
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) rs1253151209
NM_004656.4(BAP1):c.79dup (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.830_831del (p.Gln277fs) rs1327490224
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004826.4(ECEL1):c.110_155del (p.Phe37fs) rs1341894581
NM_004826.4(ECEL1):c.509del (p.Gly170fs) rs1553567937
NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs) rs797045558
NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter) rs1553407942
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs) rs1554721883
NM_004959.5(NR5A1):c.958G>T (p.Glu320Ter) rs2131279881
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.943_1140del198ins6
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005045.4(RELN):c.329dup (p.Gly111fs) rs797045912
NM_005045.4(RELN):c.3495G>A (p.Trp1165Ter) rs2117254954
NM_005045.4(RELN):c.5193C>A (p.Tyr1731Ter) rs587780435
NM_005045.4(RELN):c.5195_5208dup (p.Ile1737fs) rs587780436
NM_005045.4(RELN):c.5587C>T (p.Gln1863Ter) rs797045915
NM_005045.4(RELN):c.7490+1G>A rs587780437
NM_005050.4(ABCD4):c.1125del (p.Trp377fs) rs1440898011
NM_005105.5(RBM8A):c.128-2A>G rs1313663918
NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs) rs587783629
NM_005249.5(FOXG1):c.170_179del (p.His57fs) rs587783631
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs) rs587783635
NM_005249.5(FOXG1):c.298del (p.Gln100fs) rs587783636
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.505_506delinsC (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile) rs1881802605
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys) rs121913678
NM_005257.6(GATA6):c.1087C>T (p.Gln363Ter) rs797045593
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp) rs121909734
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.313_316del (p.Phe105fs) rs2153916498
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_005515.4(MNX1):c.53dup (p.Arg19fs) rs1554594329
NM_005515.4(MNX1):c.752del (p.Gln251fs) rs2134840169
NM_005515.4(MNX1):c.874C>T (p.Arg292Trp) rs2134838763
NM_005629.4(SLC6A8):c.1583del (p.Pro528fs) rs1557045581
NM_005629.4(SLC6A8):c.974C>G (p.Thr325Arg) rs797045972
NM_005676.5(RBM10):c.1249-1G>A rs1556778986
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) rs797045954
NM_005850.5(SF3B4):c.132del (p.Met44fs) rs2101647663
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter) rs797045955
NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs) rs797045957
NM_005861.4(STUB1):c.646dup (p.Ser216fs) rs1555475283
NM_005912.3(MC4R):c.206T>G (p.Ile69Arg) rs751160202
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) rs369107336
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) rs777580652
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) rs137853044
NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu) rs137853044
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp) rs587784488
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser) rs587784495
NM_006015.6(ARID1A):c.1397del (p.Gly466fs)
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) rs797045262
NM_006015.6(ARID1A):c.394del (p.Val132fs) rs797045263
NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter) rs1485978447
NM_006015.6(ARID1A):c.666C>G (p.Tyr222Ter) rs757919500
NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs) rs1553146165
NM_006031.6(PCNT):c.1680-2A>G rs1555954786
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) rs797045875
NM_006031.6(PCNT):c.1975dup (p.Asp659fs) rs1555956600
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) rs1555962301
NM_006031.6(PCNT):c.4004-2A>G rs2147305680
NM_006031.6(PCNT):c.4938_4939del (p.Arg1646fs) rs797045879
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) rs1315359733
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) rs369195346
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) rs587784312
NM_006031.6(PCNT):c.7796del (p.Leu2599fs) rs587784319
NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter) rs2153469119
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter) rs747485179
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) rs267607165
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys) rs878853257
NM_006265.3(RAD21):c.181_182dup (p.Gly62fs) rs1554612096
NM_006265.3(RAD21):c.56_62del (p.Leu19fs) rs797045907
NM_006265.3(RAD21):c.579dup (p.Glu194fs) rs797045908
NM_006265.3(RAD21):c.592_593dup (p.Ser198fs) rs797045909
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.616-2A>G rs587784423
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773
NM_006412.4(AGPAT2):c.335del (p.Pro112fs) rs1588263957
NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs) rs1555811929
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs) rs587784393
NM_006516.4(SLC2A1):c.1089del (p.Pro362_Trp363insTer) rs587784391
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.49G>T (p.Gly17Ter) rs1345986424
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) rs2124449015
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter) rs587784396
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter) rs587784397
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006517.5(SLC16A2):c.1026+1G>T rs1555989729
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs) rs797045962
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs) rs797045963
NM_006517.5(SLC16A2):c.256del (p.Arg86fs) rs797045965
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) rs587784386
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs) rs797045966
NM_006517.5(SLC16A2):c.532del (p.Ala178fs) rs1555989375
NM_006517.5(SLC16A2):c.850del (p.Leu284fs) rs2147870613
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter) rs587784382
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) rs766773277
NM_006579.3(EBP):c.141G>T (p.Trp47Cys) rs587783599
NM_006579.3(EBP):c.182G>A (p.Trp61Ter) rs587783600
NM_006579.3(EBP):c.225dup (p.His76fs) rs797045543
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) rs104894800
NM_006579.3(EBP):c.292_296del (p.Ser98fs) rs587783604
NM_006579.3(EBP):c.301+2T>A rs587783606
NM_006579.3(EBP):c.304A>T (p.Lys102Ter) rs587783608
NM_006579.3(EBP):c.310T>C (p.Tyr104His) rs587783609
NM_006579.3(EBP):c.328C>T (p.Arg110Ter) rs587783613
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter) rs797045544
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) rs797045546
NM_006579.3(EBP):c.440G>A (p.Arg147His) rs28935174
NM_006579.3(EBP):c.464_465del (p.Ser155fs) rs587783615
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) rs587783616
NM_006579.3(EBP):c.484dup (p.Asp162fs) rs797045547
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7382del (p.Pro2461fs) rs2151300137
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter) rs587784444
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer) rs797046028
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs) rs797046029
NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs) rs587780474
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3592del (p.Tyr1198fs) rs797046030
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.762+1G>T rs797046031
NM_006908.5(RAC1):c.151G>A (p.Val51Met) rs1554263625
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del) rs1554985851
NM_007055.4(POLR3A):c.3243-1G>A rs1554837782
NM_007129.5(ZIC2):c.1085_1131del (p.Pro362fs) rs1555332362
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007214.5(SEC63):c.733+1G>A rs886041028
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer) rs80357535
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs) rs80357696
NM_012210.4(TRIM32):c.196_205del (p.Lys66fs) rs1554732623
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter) rs797045905
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) rs1064794536
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) rs1553275687
NM_013275.6(ANKRD11):c.2464C>T (p.Gln822Ter) rs2151759808
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs) rs1555528400
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter) rs1381957912
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA rs797045898
NM_013382.7(POMT2):c.678del (p.Trp226fs) rs755660222
NM_014009.4(FOXP3):c.727del (p.Glu243fs) rs797045588
NM_014321.4(ORC6):c.1A>G (p.Met1Val) rs777153067
NM_014363.6(SACS):c.13527dup (p.Glu4510fs) rs797045936
NM_014363.6(SACS):c.1919_1920del (p.His640fs) rs797045937
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter) rs797046117
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter) rs1553961702
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter) rs587784563
NM_014795.4(ZEB2):c.2061del (p.Phe687fs) rs797046118
NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter) rs1553961610
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs) rs797046119
NM_014795.4(ZEB2):c.2501del (p.Lys834fs) rs587784565
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter) rs1553960793
NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter) rs797046121
NM_014795.4(ZEB2):c.550_568del (p.Ser184fs) rs587784568
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter) rs797046122
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu) rs1553318161
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015166.4(MLC1):c.639dup (p.Ile214fs) rs1449444164
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter) rs1553659758
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) rs1553663498
NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter) rs1557680710
NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.624+1G>C rs113993997
NM_016042.4(EXOSC3):c.112del (p.Glu38fs) rs587780333
NM_016042.4(EXOSC3):c.155del (p.Pro52fs) rs886041316
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs) rs896495198
NM_016180.5(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317
NM_016222.4(DDX41):c.1108C>T (p.Gln370Ter) rs2127436444
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter) rs144057590
NM_016222.4(DDX41):c.1142dup (p.Ile382fs) rs1554111073
NM_016222.4(DDX41):c.1285C>T (p.Gln429Ter) rs2127436241
NM_016222.4(DDX41):c.1394del (p.Gly465fs) rs759501764
NM_016222.4(DDX41):c.1496dup (p.Ala500fs) rs753425379
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) rs1554111683
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) rs760059747
NM_016222.4(DDX41):c.323del (p.Lys108fs) rs1554111653
NM_016222.4(DDX41):c.986del (p.Gln329fs) rs1291520734
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016648.4(LARP7):c.802_1142+267del rs1554011754
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter) rs576928842
NM_017668.3(NDE1):c.83+1G>T rs1456594953
NM_017739.4(POMGNT1):c.1413+1G>C rs587777821
NM_017775.4(TTC19):c.817G>T (p.Glu273Ter) rs1555530551
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) rs587783428
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1678dup (p.Glu560fs) rs797045461
NM_017780.4(CHD7):c.191_194del (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs) rs797045463
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) rs587783433
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) rs587783443
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.528dup (p.Pro177fs) rs797045468
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) rs587783447
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) rs797045469
NM_017780.4(CHD7):c.5666-2A>C rs587783448
NM_017780.4(CHD7):c.6102_6103dup (p.Glu2035fs) rs2150809140
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6446del (p.Gly2149fs) rs797045470
NM_017780.4(CHD7):c.6526del (p.Glu2176fs) rs797045471
NM_017780.4(CHD7):c.6825dup (p.Met2276fs) rs797045472
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs) rs587783456
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) rs797045473
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) rs587783459
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1669-2A>T rs797045240
NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter) rs1210764379
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084
NM_018105.3(THAP1):c.77C>T (p.Pro26Leu) rs1802674870
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.117_118del (p.Leu41fs) rs587783216
NM_018136.5(ASPM):c.1726_1729del (p.Lys576fs) rs587783221
NM_018136.5(ASPM):c.1798_1801del (p.Lys600fs) rs1553227645
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2936dup (p.Arg980fs) rs797045311
NM_018136.5(ASPM):c.2968del (p.Asp990fs) rs587783228
NM_018136.5(ASPM):c.297+1G>C rs1553228275
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter) rs587783230
NM_018136.5(ASPM):c.3390+3_3390+6del rs797045313
NM_018136.5(ASPM):c.3506_3507del (p.Val1169fs) rs769818500
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3830G>A (p.Trp1277Ter) rs587783238
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs) rs587783240
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4381C>T (p.Gln1461Ter) rs2125096695
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs) rs587783245
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter) rs587783247
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter) rs587783248
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.7308dup (p.Val2437fs) rs797045315
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter) rs587783268
NM_018136.5(ASPM):c.7665del (p.Ala2556fs) rs587783269
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter) rs587783272
NM_018136.5(ASPM):c.7857dup (p.Gln2620fs) rs797045316
NM_018136.5(ASPM):c.803_804del (p.Lys268fs) rs587783277
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter) rs587783282
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter) rs587783285
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287
NM_018136.5(ASPM):c.9104T>A (p.Leu3035Ter) rs587783288
NM_018136.5(ASPM):c.9309_9310del (p.Arg3103fs) rs587783289
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018249.6(CDK5RAP2):c.1018del (p.Glu340fs) rs797045441
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) rs754282058
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter) rs797045447
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs) rs777893196
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs) rs797045448
NM_018451.5(CENPJ):c.1882del (p.Ala628fs) rs797045449
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs) rs797045452
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer) rs587783663
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs) rs797045610
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter) rs797045611
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter) rs751858602
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter) rs1455470131
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs) rs797045217
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020320.5(RARS2):c.1246G>T (p.Glu416Ter) rs143076225
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020547.3(AMHR2):c.1216C>T (p.Arg406Ter) rs769617823
NM_020547.3(AMHR2):c.3G>A (p.Met1Ile) rs2136937857
NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter) rs1553187443
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter) rs1553188463
NM_020699.4(GATAD2B):c.981del (p.Thr328fs) rs797045594
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020999.4(NEUROG3):c.162C>A (p.Cys54Ter) rs1461650439
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
NM_022455.4(NSD1):c.5408_5411delACTAins9
NM_022455.5(NSD1):c.1077del (p.Arg359fs) rs587784068
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter) rs587784071
NM_022455.5(NSD1):c.1264dup (p.Glu422fs) rs797045804
NM_022455.5(NSD1):c.1456del (p.Ser486fs) rs587784073
NM_022455.5(NSD1):c.1802dup (p.Cys602fs) rs797045805
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs) rs587784078
NM_022455.5(NSD1):c.2048del (p.Lys683fs) rs587784079
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs) rs587784080
NM_022455.5(NSD1):c.2064del (p.Arg688fs) rs587784081
NM_022455.5(NSD1):c.2124_2127del (p.His708fs) rs587784082
NM_022455.5(NSD1):c.2167dup (p.Thr723fs) rs797045807
NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs) rs797045808
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter) rs587784084
NM_022455.5(NSD1):c.2295del (p.Ser766fs) rs587784085
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter) rs201327209
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.2639del (p.Gly880fs) rs587784087
NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter) rs587784088
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter) rs2149846283
NM_022455.5(NSD1):c.2827del (p.Asp943fs) rs587784089
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter) rs797045809
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.2956del (p.Ala986fs) rs587784093
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs) rs1554189941
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs) rs587784094
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) rs587784096
NM_022455.5(NSD1):c.3146dup (p.Thr1050fs) rs797045810
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs) rs587784097
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs) rs797045811
NM_022455.5(NSD1):c.3293del (p.Thr1098fs) rs587784099
NM_022455.5(NSD1):c.3295del (p.Ser1099fs) rs587784100
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs) rs797045812
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs) rs587784101
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs) rs587784103
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs) rs797045814
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.5(NSD1):c.3922-2_3925delinsG rs1554195815
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs) rs797045815
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.5(NSD1):c.4020del (p.Glu1341fs) rs797045816
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter) rs587784109
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter) rs587784110
NM_022455.5(NSD1):c.4192+2T>G rs587784111
NM_022455.5(NSD1):c.4282dup (p.Asp1428fs) rs797045817
NM_022455.5(NSD1):c.4301del (p.Lys1434fs) rs587784112
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs) rs587784112
NM_022455.5(NSD1):c.4376del (p.Gly1459fs) rs587784114
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter) rs587784118
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs) rs797045819
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter) rs587784119
NM_022455.5(NSD1):c.4498-3A>G rs587784120
NM_022455.5(NSD1):c.4529del (p.Ser1510fs) rs587784121
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter) rs587784122
NM_022455.5(NSD1):c.4705del (p.Glu1569fs) rs587784123
NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs) rs587784124
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs) rs797045820
NM_022455.5(NSD1):c.4745del (p.Ile1582fs) rs587784125
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter) rs587784126
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser) rs587784128
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly) rs587784128
NM_022455.5(NSD1):c.4882_4883insAA (p.Met1628fs) rs797045821
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe) rs587784129
NM_022455.5(NSD1):c.4966+1G>A rs587784131
NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys) rs587784132
NM_022455.5(NSD1):c.4967-2A>T rs587784133
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) rs587784137
NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter) rs587784138
NM_022455.5(NSD1):c.5146+1G>A rs587784139
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs) rs398124379
NM_022455.5(NSD1):c.5303+1G>C rs587784141
NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter) rs587784142
NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu) rs587784143
NM_022455.5(NSD1):c.5392_5398del (p.Phe1798fs) rs587784145
NM_022455.5(NSD1):c.5407_5410dup (p.Tyr1804Ter) rs797045823
NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter) rs587784147
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln) rs587784149
NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter) rs587784151
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs) rs587784152
NM_022455.5(NSD1):c.5712del (p.Cys1905fs) rs587784153
NM_022455.5(NSD1):c.5790dup (p.Cys1931fs) rs797045824
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter) rs587784157
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter) rs587784158
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys) rs587784160
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.5(NSD1):c.5893-2A>G rs587784163
NM_022455.5(NSD1):c.5903del (p.Val1968fs) rs587784164
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs) rs587784165
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter) rs587784168
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His) rs587784171
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser) rs587784178
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter) rs587784179
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs) rs797045826
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs) rs797045827
NM_022455.5(NSD1):c.6151+1G>A rs1562296511
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter) rs587784183
NM_022455.5(NSD1):c.6165del (p.Phe2056fs) rs587784184
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs) rs797045828
NM_022455.5(NSD1):c.6258+1G>A rs587784185
NM_022455.5(NSD1):c.6290dup (p.Lys2098fs) rs797045829
NM_022455.5(NSD1):c.6291del (p.Lys2098fs) rs587784186
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter) rs587784187
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs) rs797045830
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter) rs587784188
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs) rs587784189
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs) rs797045831
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.5(NSD1):c.6366del (p.Phe2122fs) rs587784192
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val) rs587784193
NM_022455.5(NSD1):c.6421del (p.Val2141fs) rs587784197
NM_022455.5(NSD1):c.6431del (p.Ala2144fs) rs587784198
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6459_6463+5del rs797045832
NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter) rs587784201
NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr) rs587784202
NM_022455.5(NSD1):c.6488del (p.Gln2163fs) rs2127279186
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs) rs587784207
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser) rs587784210
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His) rs587784214
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter) rs797045834
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs) rs587784219
NM_022455.5(NSD1):c.8036del (p.Pro2679fs) rs587784220
NM_022455.5(NSD1):c.8043del (p.Asn2682fs) rs587784221
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.2223del (p.Ser742fs) rs1586093849
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024529.5(CDC73):c.49del (p.Glu17fs) rs2103111657
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024596.5(MCPH1):c.22+2_22+4del rs1554471681
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024598.4(USB1):c.206del (p.Gly69fs) rs1963248804
NM_024598.4(USB1):c.481del (p.Tyr161fs) rs1963565243
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024675.4(PALB2):c.2938del (p.Ser980fs) rs1555459540
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024685.4(BBS10):c.1138dup (p.Arg380fs) rs1555202645
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024809.5(TCTN2):c.134dup (p.Val46fs) rs797046040
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) rs1555328749
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.465del (p.Gly156fs) rs797045678
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025074.7(FRAS1):c.7522+1G>T rs730882180
NM_025099.6(CTC1):c.1213del (p.Asp405fs) rs1444923772
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2847_2850del (p.Val948_Tyr949insTer) rs2151503678
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.2T>C (p.Met1Thr) rs1299853886
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs) rs797045317
NM_030632.3(ASXL3):c.4706_4710del (p.Lys1568_Leu1569insTer) rs2145429370
NM_030928.4(CDT1):c.832+1G>A rs587780305
NM_031448.6(C19orf12):c.225_226delinsTGGAGGAACAGT (p.Gln75fs) rs797045423
NM_032043.3(BRIP1):c.1936-1G>A rs1555601204
NM_032382.5(COG8):c.1364_1371del (p.Val455fs) rs2143345233
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.437del (p.Gly146fs) rs2107672654
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354
NM_033064.5(ATCAY):c.903C>G (p.Ser301Arg) rs2145256501
NM_033064.5(ATCAY):c.965+3G>T rs2038943096
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) rs587784534
NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter) rs587784508
NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs) rs587784509
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) rs587784512
NM_130839.5(UBE3A):c.1521_1528del (p.Tyr508fs) rs587784513
NM_130839.5(UBE3A):c.1597dup (p.Ala533fs) rs587781204
NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter) rs587784514
NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter) rs587784515
NM_130839.5(UBE3A):c.1786_1790del (p.Phe596fs) rs587784519
NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter) rs587781208
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) rs587781234
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs) rs587784520
NM_130839.5(UBE3A):c.2238dup (p.Phe747fs) rs797046085
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter) rs587781220
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter) rs111033595
NM_130839.5(UBE3A):c.2397_2400dup (p.Leu801fs) rs797046086
NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del) rs587781238
NM_130839.5(UBE3A):c.2523_2566dup (p.Lys856fs) rs587781230
NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His) rs587784526
NM_130839.5(UBE3A):c.2562dup (p.Leu855fs) rs797046087
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs) rs1555379800
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2607dup (p.Gly870fs) rs797046088
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?) rs587781232
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) rs587780570
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) rs587781241
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) rs587784529
NM_130839.5(UBE3A):c.440del (p.Ile147fs) rs587784530
NM_130839.5(UBE3A):c.463dup (p.Ser155fs) rs587780572
NM_130839.5(UBE3A):c.565_571del (p.Glu189fs) rs587784532
NM_130839.5(UBE3A):c.62+1_62+2insAA rs797046084
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter) rs587784533
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
NM_133433.4(NIPBL):c.1003del (p.Glu335fs) rs587783877
NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs) rs587783878
NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter) rs587783879
NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs) rs587783880
NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter) rs797045745
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter) rs587783882
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter) rs587783883
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter) rs587783884
NM_133433.4(NIPBL):c.1445_1448del (p.Arg482fs) rs80358382
NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs) rs80358382
NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs) rs797045746
NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter) rs587783886
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs) rs587783888
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter) rs587783889
NM_133433.4(NIPBL):c.1753del (p.Ile585fs) rs587783891
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) rs587783892
NM_133433.4(NIPBL):c.192del (p.Gln64fs) rs80358364
NM_133433.4(NIPBL):c.1992dup (p.Glu665fs) rs797045748
NM_133433.4(NIPBL):c.2046del (p.Lys682fs) rs587783894
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter) rs587783896
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs) rs587783897
NM_133433.4(NIPBL):c.2108del (p.Pro703fs) rs587783897
NM_133433.4(NIPBL):c.212_213dup (p.Val72fs) rs797045749
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter) rs587783899
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter) rs587783901
NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter) rs797045750
NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter) rs587783902
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs) rs1554017345
NM_133433.4(NIPBL):c.2464del (p.Gln822fs) rs797045751
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter) rs587783905
NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter) rs587783906
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter) rs587783907
NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter) rs797045752
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.2711del (p.Arg904fs) rs587783909
NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs) rs587783910
NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter) rs587783911
NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs) rs797045753
NM_133433.4(NIPBL):c.2903del (p.Asn968fs) rs587783912
NM_133433.4(NIPBL):c.2965dup (p.Ile989fs) rs797045754
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter) rs1554017661
NM_133433.4(NIPBL):c.310_317del (p.Pro104fs) rs587783917
NM_133433.4(NIPBL):c.314dup (p.Asn105fs) rs797045755
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs) rs797045756
NM_133433.4(NIPBL):c.3305-1G>T rs80358375
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter) rs587783919
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer) rs587783923
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs) rs587783925
NM_133433.4(NIPBL):c.3575-3C>G rs587783926
NM_133433.4(NIPBL):c.358+1G>T rs587783927
NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter) rs1554020997
NM_133433.4(NIPBL):c.3709C>T (p.Gln1237Ter) rs2149672495
NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs) rs587783930
NM_133433.4(NIPBL):c.3855+1G>T rs587783933
NM_133433.4(NIPBL):c.3855+2T>C rs886043046
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs) rs587783934
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) rs587783936
NM_133433.4(NIPBL):c.3G>T (p.Met1Ile) rs587783937
NM_133433.4(NIPBL):c.4017C>A (p.Tyr1339Ter) rs587783938
NM_133433.4(NIPBL):c.4088-2A>T rs587783939
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs) rs587783940
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs) rs587783941
NM_133433.4(NIPBL):c.4240-1G>C rs587783942
NM_133433.4(NIPBL):c.4275_4287del (p.Glu1425fs) rs587783944
NM_133433.4(NIPBL):c.4285_4294del (p.Glu1429fs) rs80358386
NM_133433.4(NIPBL):c.4320+1G>A rs587783945
NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter) rs797045760
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter) rs80358369
NM_133433.4(NIPBL):c.4529dup (p.Asp1510fs) rs797045761
NM_133433.4(NIPBL):c.4532_4533del (p.Asp1510_Ser1511insTer) rs797045762
NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter) rs587783950
NM_133433.4(NIPBL):c.456del (p.Ser153fs) rs587783951
NM_133433.4(NIPBL):c.458+1_458+2dup rs797045763
NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528fs) rs797045764
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter) rs587783952
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter) rs121918269
NM_133433.4(NIPBL):c.4636del (p.Lys1548fs) rs587783953
NM_133433.4(NIPBL):c.4643+1G>C rs587783954
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs) rs587783955
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs) rs587783957
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter) rs77632238
NM_133433.4(NIPBL):c.4806_4807del (p.Glu1602fs) rs80358372
NM_133433.4(NIPBL):c.4818_4819del (p.Arg1606fs) rs587783959
NM_133433.4(NIPBL):c.4893dup (p.Gly1632fs) rs797045766
NM_133433.4(NIPBL):c.4965_4972del (p.Asp1657fs) rs797045767
NM_133433.4(NIPBL):c.4988_4991dup (p.Glu1664delinsAspTer) rs797045768
NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs) rs587783960
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter) rs797045769
NM_133433.4(NIPBL):c.5046_5047insTG (p.Asp1683fs) rs797045770
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.4(NIPBL):c.5174del (p.Lys1725fs) rs587783961
NM_133433.4(NIPBL):c.5328+1G>A rs587783967
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5329-1G>C rs587783969
NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter) rs587783971
NM_133433.4(NIPBL):c.5365C>T (p.Arg1789Ter) rs587783972
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs) rs587783973
NM_133433.4(NIPBL):c.5428-2A>G rs587783974
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter) rs587783975
NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter) rs62654864
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs) rs797045771
NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs) rs797045772
NM_133433.4(NIPBL):c.5709+1G>A rs587783979
NM_133433.4(NIPBL):c.5709+2T>G rs587783980
NM_133433.4(NIPBL):c.5739_5740del (p.Trp1914fs) rs797045773
NM_133433.4(NIPBL):c.5808+1G>A rs587783984
NM_133433.4(NIPBL):c.5822_5834del (p.Arg1941fs) rs2149706056
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter) rs80358360
NM_133433.4(NIPBL):c.5862+1G>A rs587783985
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter) rs587783988
NM_133433.4(NIPBL):c.610+1G>A rs587783993
NM_133433.4(NIPBL):c.6108+1G>T rs587783994
NM_133433.4(NIPBL):c.6108+2T>C rs797045775
NM_133433.4(NIPBL):c.6249+2dup rs797045776
NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer) rs1554031864
NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs) rs587784005
NM_133433.4(NIPBL):c.64+1G>A rs587784009
NM_133433.4(NIPBL):c.64+3A>C rs587784010
NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs) rs1554032085
NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter) rs587784013
NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter) rs587784015
NM_133433.4(NIPBL):c.6590-2A>C rs587784016
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu) rs587784017
NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter) rs80358363
NM_133433.4(NIPBL):c.6641_6647del (p.Asn2214fs) rs80358361
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del) rs587784022
NM_133433.4(NIPBL):c.6648_6649del (p.Tyr2216_Asn2217delinsTer) rs587784021
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs) rs797045778
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs) rs797045780
NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly) rs80358376
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys) rs80358376
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.6952C>T (p.Gln2318Ter) rs587784026
NM_133433.4(NIPBL):c.6954+1G>A rs587784027
NM_133433.4(NIPBL):c.7011_7012del (p.Lys2337fs) rs587784029
NM_133433.4(NIPBL):c.7062+2T>C rs587784032
NM_133433.4(NIPBL):c.7102C>T (p.Gln2368Ter) rs587784033
NM_133433.4(NIPBL):c.7106del (p.Gln2369fs) rs587784034
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs) rs587784037
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.7263+4A>C rs797045781
NM_133433.4(NIPBL):c.7264-6T>G rs587784038
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter) rs80358370
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly) rs587784042
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs) rs587784043
NM_133433.4(NIPBL):c.7701_7725del (p.Ser2568fs) rs587784047
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.772-1G>A rs587784049
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) rs80358368
NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter) rs80358371
NM_133433.4(NIPBL):c.7816dup (p.Ile2606fs) rs797045783
NM_133433.4(NIPBL):c.7841_7842dup (p.Val2615Ter) rs797045784
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter) rs587784050
NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs) rs797045785
NM_133433.4(NIPBL):c.7913dup (p.Val2639fs) rs797045786
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs) rs587784052
NM_133433.4(NIPBL):c.8275_8276dup (p.Val2760fs) rs797045787
NM_133433.4(NIPBL):c.8277_8283del (p.Val2760fs) rs587784055
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs) rs587784056
NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs) rs797045789
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter) rs398124474
NM_133433.4(NIPBL):c.869-1G>A rs587784059
NM_133433.4(NIPBL):c.86del (p.Pro29fs) rs587784060
NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter) rs587784062
NM_133433.4(NIPBL):c.892del (p.Gln298fs) rs587784063
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter) rs587784065
NM_138387.4(G6PC3):c.1012C>T (p.Gln338Ter) rs889605875
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138711.6(PPARG):c.1183C>T (p.Arg395Cys) rs72551364
NM_138711.6(PPARG):c.1271del (p.Pro424fs) rs770557781
NM_138711.6(PPARG):c.924_928del (p.Asp308fs) rs1553650477
NM_139058.2(ARX):c.304_305ins21 (p.?)
NM_139058.3(ARX):c.1096del (p.Asp366fs) rs797045289
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter) rs587783182
NM_139058.3(ARX):c.1120-82_1469dup
NM_139058.3(ARX):c.1141del (p.Ala381fs) rs1556049694
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs) rs797045290
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs) rs2048682798
NM_139058.3(ARX):c.1337dup (p.Pro447fs) rs797045291
NM_139058.3(ARX):c.1372del (p.Ala458fs) rs587783187
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter) rs587783189
NM_139058.3(ARX):c.1449-82_1469dup rs1556046904
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1471dup (p.Leu491fs) rs797045292
NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs) rs1556046720
NM_139058.3(ARX):c.1544del (p.Gly515fs) rs587783192
NM_139058.3(ARX):c.172del (p.Ala58fs) rs587783193
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup) rs387906492
NM_139058.3(ARX):c.335_368del (p.Ala112fs) rs587783199
NM_139058.3(ARX):c.34G>T (p.Glu12Ter) rs587783200
NM_139058.3(ARX):c.409dup (p.Glu137fs) rs797045298
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter) rs797045303
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612
NM_139058.3(ARX):c.995G>T (p.Arg332Leu) rs111033612
NM_139058.3(ARX):c.998C>A (p.Thr333Asn) rs104894745
NM_139058.3(ARX):c.998C>G (p.Thr333Ser) rs104894745
NM_139242.4(MTFMT):c.219_222del (p.Glu74fs) rs777725264
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) rs587783343
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs) rs1554948192
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter) rs797046098
NM_152618.3(BBS12):c.787dup (p.Tyr263fs) rs1553941312
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter) rs1554295159
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs) rs797045506
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) rs267607634
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn) rs59981161
NM_170707.4(LMNA):c.1488+5G>C rs267607543
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) rs780302064
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.810+2T>C rs2102882192
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) rs1553265433
NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del) rs1553265436
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170784.3(MKKS):c.775del (p.Thr259fs) rs759131391
NM_171998.4(RAB39B):c.559G>T (p.Glu187Ter) rs1557314191
NM_172107.4(KCNQ2):c.1197del (p.Ser399fs) rs587780365
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_173630.4(RTTN):c.5185+1G>A rs1555707336
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs) rs1553850100
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.224+1G>A rs1600707958
NM_175914.5(HNF4A):c.325C>T (p.Gln109Ter) rs2146411947
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter) rs1555815158
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter) rs1555815396
NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys) rs1757271243
NM_178151.2(DCX):c.226_234delCGTTTTCGCins2
NM_178151.2(DCX):c.367del rs587783545
NM_181507.2(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181741.4(ORC4):c.1226del (p.Thr409fs) rs797045852
NM_181741.4(ORC4):c.410C>G (p.Ser137Ter) rs2105306744
NM_182476.3(COQ6):c.1069del (p.Val357fs) rs1555358729
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter) rs1203553546
NM_182961.4(SYNE1):c.12152G>A (p.Trp4051Ter) rs2154018964
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter) rs797046024
NM_182961.4(SYNE1):c.19893+1G>T rs1191629465
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter) rs1554573328
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs) rs1554553667
NM_182961.4(SYNE1):c.3769del (p.Glu1257fs) rs2154239396
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer) rs1554829141
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter) rs1554676394
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs) rs797046026
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter) rs199908878
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.570_586dup (p.Arg196fs) rs2126688998
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_201525.4(ADGRG1):c.1216del (p.Leu406fs) rs797045600
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter) rs587783655
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) rs587783657
NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr) rs587783658
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs) rs797045602
NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter) rs1555452574
NM_206937.2(LIG4):c.1512_1513dup (p.Arg505fs) rs759838407
NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs) rs1555412971
NM_207346.3(TSEN54):c.1138G>T (p.Glu380Ter) rs587784475
NM_207346.3(TSEN54):c.1335del (p.Leu446fs) rs587784476
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter) rs797046054
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs) rs797046055
NM_207346.3(TSEN54):c.575_576del (p.His192fs) rs587784479
NM_207346.3(TSEN54):c.823del (p.Val275fs) rs797046057
NM_213622.4(STAMBP):c.649C>T (p.Gln217Ter) rs1553382055
NR_001566.1(TERC):n.116C>T rs199422272

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