ClinVar Miner

List of variants reported as pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3917
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_031307.4(PUS3):c.-47+3170T>C rs104894232 0.00103
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_001003722.2(GLE1):c.433-10A>G rs386833693 0.00082
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
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_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 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_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_003982.4(SLC7A7):c.895-2A>T rs146582474 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_213653.4(HJV):c.959G>T (p.Gly320Val) rs74315323 0.00027
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
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_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) rs373899077 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_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000071.3(CBS):c.362G>A (p.Arg121His) rs770095972 0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 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_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) rs80338899 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000359.3(TGM1):c.427C>T (p.Arg143Cys) rs531650682 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00008
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051 0.00008
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) rs756016704 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 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_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000349.3(STAR):c.64+1G>T rs765968701 0.00007
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp) rs759396688 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000070.3(CAPN3):c.499-1G>A rs863224964 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=) rs201728948 0.00006
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) rs751975987 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000237.3(LPL):c.835C>G (p.Leu279Val) rs371282890 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000517.6(HBA2):c.60del (p.His21fs) rs886041399 0.00006
NM_000517.6(HBA2):c.69del (p.Glu24fs) rs1270810159 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001369.3(DNAH5):c.1089+1G>A rs574586008 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter) rs749341977 0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly) rs141952252 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_014140.4(SMARCAL1):c.1190del (p.Leu397fs) rs766291662 0.00006
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146 0.00006
NM_014249.4(NR2E3):c.481del (p.Thr161fs) rs759339012 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637 0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641 0.00005
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_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787 0.00005
NM_000155.4(GALT):c.253-2A>G rs111033661 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr) rs757033996 0.00005
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter) rs80358217 0.00005
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085 0.00005
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00005
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs) rs1421964916 0.00005
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys) rs104894328 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_001126108.2(SLC12A3):c.2037+1G>A rs775799617 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273 0.00005
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) rs113994068 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter) rs104894429 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000048.4(ASL):c.649C>T (p.Arg217Ter) rs369879957 0.00004
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter) rs766906034 0.00004
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000071.3(CBS):c.451G>A (p.Gly151Arg) rs373782713 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000128.4(F11):c.325+1G>A rs140190776 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320 0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met) rs386833560 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000203.5(IDUA):c.793-1G>A rs762779421 0.00004
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526 0.00004
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) rs779712562 0.00004
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter) rs267607218 0.00004
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) rs118204070 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898 0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436 0.00004
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His) rs200491579 0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 0.00004
NM_000498.3(CYP11B2):c.1398+1G>A rs539836429 0.00004
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.3026G>A (p.Arg1009Gln) rs370175770 0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) rs758035631 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter) rs376091780 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627 0.00004
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) rs558005496 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) rs121909485 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_023036.6(DNAI2):c.739C>T (p.Arg247Ter) rs545536618 0.00004
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter) rs137852998 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024996.7(GFM1):c.720del (p.Glu241fs) rs745718158 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_032520.5(GNPTG):c.610-2A>G rs193302855 0.00004
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) rs200280742 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) rs775305020 0.00004
NM_054012.4(ASS1):c.469C>T (p.Arg157Cys) rs770585183 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) rs148207467 0.00003
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000019.4(ACAT1):c.1006-2A>C rs145229472 0.00003
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000035.4(ALDOB):c.-11+1G>C rs181639417 0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile) rs541408630 0.00003
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met) rs149119723 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000094.4(COL7A1):c.6501+1G>C rs759644973 0.00003
NM_000094.4(COL7A1):c.682+1G>A rs775288140 0.00003
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874 0.00003
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) rs368311455 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000137.4(FAH):c.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) rs439898 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_000159.4(GCDH):c.1244-2A>C rs199999619 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791 0.00003
NM_000255.4(MMUT):c.1677-1G>A rs754369323 0.00003
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254 0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256 0.00003
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter) rs121965057 0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) rs752255985 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.464G>A (p.Arg155His) rs199475663 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090 0.00003
NM_000349.3(STAR):c.653C>T (p.Ala218Val) rs137852690 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000486.6(AQP2):c.277C>T (p.Gln93Ter) rs770810694 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter) rs397508211 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter) rs397508777 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188 0.00003
NM_001033855.3(DCLRE1C):c.109+1G>T rs143144732 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro) rs780594361 0.00003
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845 0.00003
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs) rs754698253 0.00003
NM_001369.3(DNAH5):c.5647C>T (p.Arg1883Ter) rs575017579 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001371596.2(MFSD8):c.754+2T>A rs587778809 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) rs61752092 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) rs113994064 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_004646.4(NPHS1):c.3481+1G>T rs142883811 0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517 0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) rs140277700 0.00003
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter) rs758827458 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014625.4(NPHS2):c.948del (p.Ala317fs) rs775170915 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter) rs398122963 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr) rs398123074 0.00002
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs) rs747610156 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000048.4(ASL):c.436C>T (p.Arg146Trp) rs199938613 0.00002
NM_000048.4(ASL):c.447-1G>A rs778254333 0.00002
NM_000048.4(ASL):c.524+2T>G rs869312976 0.00002
NM_000048.4(ASL):c.557G>A (p.Arg186Gln) rs752397242 0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000049.4(ASPA):c.237-2A>T rs780936696 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs) rs775351239 0.00002
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085 0.00002
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs) rs766902987 0.00002
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter) rs539239516 0.00002
NM_000102.4(CYP17A1):c.297+2T>C rs764723654 0.00002
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter) rs121965076 0.00002
NM_000137.4(FAH):c.707-1G>A rs149052294 0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp) rs759982943 0.00002
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) rs750470654 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800 0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter) rs766474996 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr) rs118204080 0.00002
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00002
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156 0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184 0.00002
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357 0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248 0.00002
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 0.00002
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 0.00002
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter) rs191295403 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 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_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) rs755490967 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634 0.00002
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) rs138690664 0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) rs766076920 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter) rs79031340 0.00002
NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) rs121912977 0.00002
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000517.6(HBA2):c.95+1G>A rs63750158 0.00002
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.571-1G>T rs185429231 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter) rs746818109 0.00002
NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met) rs771326058 0.00002
NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met) rs755069436 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) rs902775927 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001174089.2(SLC4A11):c.570_571del (p.Val192fs) rs762596098 0.00002
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter) rs142575695 0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys) rs764992664 0.00002
NM_002529.4(NTRK1):c.287+2dup rs768373757 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln) rs121908891 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1144-1G>T rs755363896 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter) rs779834525 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn) rs763972372 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005476.7(GNE):c.1130del (p.Ile377fs) rs982936794 0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 0.00002
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter) rs121908165 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014249.4(NR2E3):c.290G>A (p.Arg97His) rs1489149705 0.00002
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg) rs104894430 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter) rs201320564 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) rs768345097 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter) rs771210121 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter) rs119470019 0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter) rs1004779078 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025216.3(WNT10A):c.376+1G>A rs561503117 0.00002
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726 0.00002
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter) rs771943305 0.00002
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00002
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459 0.00002
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) rs757740068 0.00002
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) rs587783652 0.00002
NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter) rs748394238 0.00002
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_213653.4(HJV):c.1097T>A (p.Leu366Ter) rs1205047449 0.00002
NM_000016.6(ACADM):c.1194+1G>A rs769331400 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.599+2T>C rs148260275 0.00001
NM_000016.6(ACADM):c.849+2T>C rs780737237 0.00001
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter) rs745793409 0.00001
NM_000016.6(ACADM):c.946-2A>C rs758753966 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083 0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246 0.00001
NM_000030.3(AGXT):c.679_680+2del rs180177255 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.846+1G>T rs180177281 0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 0.00001
NM_000048.4(ASL):c.376C>T (p.Arg126Trp) rs201962738 0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) rs774323189 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.4909+1G>A rs756987454 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.1708-5T>G rs770829226 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194 0.00001
NM_000071.3(CBS):c.1007G>A (p.Arg336His) rs760417941 0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp) rs886057100 0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg) rs755952006 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter) rs748103983 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter) rs368007918 0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4783-1G>A rs371908708 0.00001
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847 0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193 0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.5344G>A (p.Gly1782Arg) rs374718902 0.00001
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter) rs886041186 0.00001
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter) rs1486141784 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter) rs772381373 0.00001
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter) rs765027608 0.00001
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852 0.00001
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216 0.00001
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter) rs1064793916 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys) rs104894142 0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His) rs752811843 0.00001
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu) rs760695410 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000128.4(F11):c.1136-7_1136-4del rs1439195599 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) rs779745863 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000137.4(FAH):c.3G>A (p.Met1Ile) rs766882348 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) rs757407613 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658 0.00001
NM_000155.4(GALT):c.252+1G>A rs768154316 0.00001
NM_000155.4(GALT):c.329-2A>C rs111033667 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn) rs1553217009 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs) rs749714463 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.709A>G (p.Lys237Glu) rs773409311 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480 0.00001
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302 0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619 0.00001
NM_000159.4(GCDH):c.1064G>A (p.Arg355His) rs748275416 0.00001
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) rs752127949 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln) rs751583656 0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu) rs1260580183 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs) rs386833543 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys) rs80358219 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659 0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360 0.00001
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.1728-1G>C rs1249951282 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.719A>G (p.His240Arg) rs1297784711 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.622-2A>G rs780596734 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter) rs1457072724 0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086 0.00001
NM_000237.3(LPL):c.397C>T (p.Gln133Ter) rs118204058 0.00001
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) rs118204077 0.00001
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000237.3(LPL):c.836T>G (p.Leu279Arg) rs35414700 0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303 0.00001
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter) rs1346775255 0.00001
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903 0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418 0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249 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_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818 0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777 0.00001
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002 0.00001
NM_000260.4(MYO7A):c.133-2A>G rs782064437 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308 0.00001
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter) rs778934538 0.00001
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.5146G>T (p.Glu1716Ter) rs1236207116 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) rs761469964 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 0.00001
NM_000263.4(NAGLU):c.384-1G>A rs764134891 0.00001
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter) rs370721218 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter) rs200068769 0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys) rs386833621 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro) rs62516103 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) rs76542238 0.00001
NM_000277.3(PAH):c.169-13T>G rs62507341 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000277.3(PAH):c.673C>A (p.Pro225Thr) rs199475589 0.00001
NM_000277.3(PAH):c.694C>T (p.Gln232Ter) rs62507348 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000277.3(PAH):c.912+1G>A rs62514956 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000282.4(PCCA):c.2041-2A>G rs776281864 0.00001
NM_000282.4(PCCA):c.231+1G>C rs972937270 0.00001
NM_000282.4(PCCA):c.415-2A>C rs746286209 0.00001
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212 0.00001
NM_000288.4(PEX7):c.130+1G>A rs267608253 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000303.3(PMM2):c.256-1G>C rs757394782 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145 0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234 0.00001
NM_000352.6(ABCC8):c.1176+2T>C rs750586210 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.1630+1G>T rs773306994 0.00001
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00001
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281 0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys) rs781617345 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter) rs398122904 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000370.3(TTPA):c.205-1G>C rs886040963 0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575 0.00001
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) rs1216139602 0.00001
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573 0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter) rs137854592 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00001
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) rs111033200 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val) rs770093969 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs) rs387906525 0.00001
NM_000478.6(ALPL):c.212G>A (p.Arg71His) rs121918003 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.648+1G>A rs749544042 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) rs786204634 0.00001
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys) rs121918020 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1081del (p.Trp361fs) rs387906361 0.00001
NM_000492.4(CFTR):c.1393-2A>G rs397508201 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1584+1G>A rs397508230 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn) rs121909006 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) rs397508378 0.00001
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter) rs397508393 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter) rs397508500 0.00001
NM_000492.4(CFTR):c.3139_3139+1del rs397508505 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765 0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) rs121908811 0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3744del (p.Lys1250fs) rs121908784 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter) rs397508808 0.00001
NM_000498.3(CYP11B2):c.421C>T (p.Arg141Ter) rs765802331 0.00001
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) rs41397847 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter) rs200793488 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter) rs1315729938 0.00001
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) rs748727021 0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs) rs759389193 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1571G>A (p.Arg524His) rs758182700 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) rs72551315 0.00001
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) rs80359849 0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs) rs386833736 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) rs151017794 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg) rs28936387 0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) rs753523115 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001126108.2(SLC12A3):c.2633+1G>A rs778455414 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_001126108.2(SLC12A3):c.539_543del (p.Thr180fs) rs1246662762 0.00001
NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp) rs28936388 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter) rs765622323 0.00001
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) rs121912501 0.00001
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001142800.2(EYS):c.2889T>A (p.Cys963Ter) rs989589885 0.00001
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter) rs1389794536 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066 0.00001
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter) rs121909390 0.00001
NM_001174089.2(SLC4A11):c.2215C>T (p.Arg739Trp) rs757553189 0.00001
NM_001201543.2(FAM161A):c.1321dup (p.His441fs) rs1316281505 0.00001
NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter) rs267606793 0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) rs267606794 0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser) rs104886035 0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.13426C>T (p.Arg4476Ter) rs767716511 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.5114+1G>C rs878854457 0.00001
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576 0.00001
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094 0.00001
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) rs775946081 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His) rs753130398 0.00001
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter) rs769054713 0.00001
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter) rs749315686 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter) rs1490504758 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter) rs1198051503 0.00001
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter) rs1303829798 0.00001
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter) rs776563011 0.00001
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter) rs963520367 0.00001
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter) rs727505104 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys) rs782500780 0.00001
NM_001692.4(ATP6V1B1):c.785+1G>A rs727504746 0.00001
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter) rs121912596 0.00001
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723 0.00001
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002529.4(NTRK1):c.574+1G>A rs1232901259 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter) rs121908887 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys) rs749282641 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003060.4(SLC22A5):c.652+1G>A rs386134200 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) rs80338882 0.00001
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter) rs774824767 0.00001
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579 0.00001
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) rs72549397 0.00001
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His) rs748862206 0.00001
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln) rs758069019 0.00001
NM_003907.3(EIF2B5):c.584G>A (p.Arg195His) rs113994054 0.00001
NM_003982.4(SLC7A7):c.1387del (p.Val463fs) rs386833806 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) rs773668457 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs) rs386833883 0.00001
NM_004646.4(NPHS1):c.2479C>T (p.Arg827Ter) rs140018064 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter) rs386833951 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005609.4(PYGM):c.1239+1G>A rs759657964 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862 0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847 0.00001
NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter) rs377443637 0.00001
NM_005957.5(MTHFR):c.1167-2del rs780014899 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_014049.5(ACAD9):c.1553G>A (p.Arg518His) rs781149699 0.00001
NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs) rs956223874 0.00001
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034 0.00001
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) rs955766374 0.00001
NM_014249.4(NR2E3):c.310C>T (p.Arg104Trp) rs990307718 0.00001
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) rs80338721 0.00001
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00001
NM_014251.3(SLC25A13):c.1311+1G>A rs80338723 0.00001
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) rs80338726 0.00001
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) rs80338716 0.00001
NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter) rs763191789 0.00001
NM_014297.5(ETHE1):c.3G>T (p.Met1Ile) rs119103249 0.00001
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg) rs387906987 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs) rs1057516766 0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu) rs281875309 0.00001
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter) rs751477523 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter) rs121908325 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00001
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) rs1174791046 0.00001
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) rs367683258 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924 0.00001
NM_020166.5(MCCC1):c.639+2T>A rs199914879 0.00001
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 0.00001
NM_020533.3(MCOLN1):c.405+1G>A rs148748724 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
NM_023036.6(DNAI2):c.883C>T (p.Arg295Ter) rs200708870 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031 0.00001
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter) rs1356713858 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter) rs1186821575 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.3185del (p.Leu1062fs) rs863225189 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter) rs1468942944 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2482-2A>G rs397507168 0.00001
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) rs771004767 0.00001
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) rs148173878 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537 0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn) rs936192871 0.00001
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln) rs201623252 0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys) rs148918985 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter) rs200482978 0.00001
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000 0.00001
NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter) rs746419489 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) rs759322460 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) rs727504096 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter) rs1350620976 0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588 0.00001
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter) rs1436814142 0.00001
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947 0.00001
NM_138694.4(PKHD1):c.8642+1G>A rs1485161784 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152443.3(RDH12):c.210dup (p.Arg71fs) rs797044761 0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) rs368489658 0.00001
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) rs752242512 0.00001
NM_152443.3(RDH12):c.437T>A (p.Val146Asp) rs116649873 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter) rs753074829 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_153006.3(NAGS):c.1025del (p.Arg342fs) rs730880266 0.00001
NM_153676.4(USH1C):c.497-2del rs1480243085 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_174878.3(CLRN1):c.433+1G>A rs201205811 0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845 0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396 0.00001
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter) rs774306610 0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593 0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter) rs780718243 0.00001
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter) rs1047016803 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201548.5(CERKL):c.238+1G>A rs1276597208 0.00001
NM_201548.5(CERKL):c.780del (p.Pro261fs) rs398122964 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) rs781223647 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter) rs886039449 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_206933.4(USH2A):c.3317-2A>G rs2034951427 0.00001
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) rs1171672823 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485 0.00001
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045 0.00001
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter) rs760858249 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs) rs875989877
NM_000016.6(ACADM):c.387+1G>A rs1057516983
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.431_434del (p.Lys144fs) rs1057517356
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly) rs875989867
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs) rs1329022268
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) rs118204015
NM_000018.4(ACADVL):c.1269+1G>A rs773401248
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter) rs180177303
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000046.5(ARSB):c.116_123del (p.Ala39fs) rs1554032243
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer) rs1786675239
NM_000048.4(ASL):c.556C>T (p.Arg186Trp) rs111407265
NM_000048.4(ASL):c.706C>T (p.Arg236Trp) rs761268464
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.4(ASPA):c.550C>T (p.Gln184Ter) rs1597439028
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
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.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
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.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.467G>A (p.Trp156Ter) rs876658159
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.510_511del (p.Tyr171fs) rs1591499665
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7767del (p.Lys2589fs) rs1057517025
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs) rs876660022
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs) rs772000260
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) rs1449610384
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs) rs1566598496
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) rs761084829
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter) rs138943954
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1355-1G>C rs747557404
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs) rs398123146
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.60del (p.Pro22fs) rs1566965857
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000071.3(CBS):c.1358+1G>A rs786204679
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter) rs121964971
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.3(CBS):c.346G>A (p.Gly116Arg) rs760214620
NM_000071.3(CBS):c.684C>A (p.Asn228Lys) rs1464223176
NM_000071.3(CBS):c.954+1G>A rs1057517373
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs) rs781774131
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs) rs758444182
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.522dup (p.Leu175fs) rs761358728
NM_000091.5(COL4A3):c.713del (p.Pro238fs) rs988439345
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs) rs1385106410
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.3631C>T (p.Gln1211Ter) rs747522386
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.4(COL7A1):c.4039G>C (p.Gly1347Arg) rs121912833
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4322del (p.Pro1441fs) rs753185460
NM_000094.4(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter) rs1368134215
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.6081del (p.Pro2029fs) rs780623622
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6745C>T (p.Gln2249Ter) rs769294243
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter) rs886039330
NM_000094.4(COL7A1):c.887del (p.Gly296fs) rs1131691385
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000101.4(CYBA):c.166dup (p.Arg56fs) rs1352931329
NM_000101.4(CYBA):c.204-2A>G rs113932941
NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter) rs779809359
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) rs104894511
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter) rs2134082367
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu) rs104894145
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del) rs121434319
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs) rs769461019
NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter) rs2141079375
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1325del (p.Leu442fs) rs757530565
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.643_644del (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000137.4(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000143.4(FH):c.268-2A>G rs1064793741
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn) rs2056023296
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter) rs2056043532
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter) rs764401169
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg) rs1410392732
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1225dup (p.Asp409fs) rs2039157751
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1551+1G>A rs770780848
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) rs2039364779
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2432del (p.Leu811fs) rs766560578
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000153.4(GALC):c.1083dup (p.Gly362fs) rs767236077
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1335_1336del (p.Trp446fs) rs1885229622
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1884del (p.Lys628fs) rs1336726861
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000156.6(GAMT):c.11_36dup (p.Gly13fs) rs1460147564
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000156.6(GAMT):c.491dup (p.Val165fs) rs749390953
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) rs200444143
NM_000157.4(GBA1):c.108G>A (p.Trp36Ter) rs777383151
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) rs77829017
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter) rs1671872221
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000157.4(GBA1):c.886C>T (p.Arg296Ter) rs1553217626
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.219del (p.Tyr74fs) rs1057516521
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) rs142967670
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142
NM_000170.3(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1580+2T>G rs1554646710
NM_000170.3(GLDC):c.1629del (p.Asn543fs) rs1345599468
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs) rs772068893
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.2919+1G>C rs386833575
NM_000170.3(GLDC):c.2T>C (p.Met1Thr) rs121964978
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs) rs1274176298
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter) rs905880501
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs) rs770815049
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1163del (p.Thr388fs) rs1577541504
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter) rs1577508801
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) rs1715120049
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter) rs1715123409
NM_000206.3(IL2RG):c.562C>T (p.Gln188Ter) rs1556330552
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.298-1G>A rs79500874
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.684del (p.Phe228fs) rs770074196
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1658del (p.Val553fs) rs2127415956
NM_000255.4(MMUT):c.1765C>T (p.Gln589Ter) rs1767285193
NM_000255.4(MMUT):c.29dup (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter) rs1554160743
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.671_678dup (p.Val227fs) rs758008398
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.920_923del (p.Phe307fs) rs2127418705
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000260.4(MYO7A):c.1003+1G>A rs1952694662
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs) rs397516303
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter) rs778009227
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.352_353del (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter) rs121965058
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter) rs121965056
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1200-2A>G rs1592945607
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.266dup (p.Ala90fs) rs62506950
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.503del (p.Tyr168fs) rs199475661
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.510T>A (p.His170Gln) rs199475652
NM_000277.3(PAH):c.510T>G (p.His170Gln) rs199475652
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.632del (p.Pro211fs) rs62514929
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) rs62509013
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.822_832del (p.Lys274fs) rs199475581
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000303.3(PMM2):c.-167G>T rs1596481676
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.458_462del (p.Ile153fs) rs774738702
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.289_290del (p.Gln97fs) rs1649597261
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.73C>T (p.Arg25Ter) rs1167104933
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) rs373652862
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) rs768448761
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg) rs779287673
NM_000359.3(TGM1):c.1166G>C (p.Arg389Pro) rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.601C>T (p.Gln201Ter) rs1057517423
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000382.3(ALDH3A2):c.1108-1G>C rs1036733598
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.471+1del rs786204741
NM_000382.3(ALDH3A2):c.798+1del rs757359379
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000391.4(TPP1):c.1075+2T>C rs1855583482
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter) rs1554901472
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000397.4(CYBB):c.483+1G>T rs1131691828
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter) rs1232449804
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.788_789del (p.Thr263fs) rs61750404
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.659G>C (p.Gly220Ala) rs1644592603
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) rs1223142821
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000487.6(ARSA):c.1107+1del rs1057517036
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.302dup (p.Leu102fs) rs761606317
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) rs397508136
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1117-1G>A rs797045160
NM_000492.4(CFTR):c.1130dup (p.Gln378fs) rs397508163
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer) rs397508171
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter) rs397508174
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter) rs397508175
NM_000492.4(CFTR):c.1209+1G>A rs397508176
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs) rs397508186
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs) rs797045161
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter) rs121908805
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter) rs397508223
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter) rs397508227
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.164+1G>A rs397508243
NM_000492.4(CFTR):c.164+2T>C rs121908800
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg) rs121909005
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) rs397508247
NM_000492.4(CFTR):c.165-1G>A rs397508249
NM_000492.4(CFTR):c.1650del (p.Gly551fs) rs397508251
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1679+1G>C rs397508263
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp) rs121909006
NM_000492.4(CFTR):c.168del (p.Glu56fs) rs397508269
NM_000492.4(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter) rs397508279
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.4(CFTR):c.175dup (p.Arg59fs) rs397508294
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1766+1G>T rs121908748
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs) rs397508303
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs) rs121908779
NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter) rs397508323
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter) rs397508336
NM_000492.4(CFTR):c.2053dup (p.Gln685fs) rs797045162
NM_000492.4(CFTR):c.2083dup (p.Glu695fs) rs397508339
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter) rs397508343
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter) rs397508346
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter) rs397508354
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs) rs397508355
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter) rs397508365
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter) rs397508377
NM_000492.4(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs) rs797045156
NM_000492.4(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.4(CFTR):c.2490+1G>A rs141158996
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter) rs397508389
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter) rs397508394
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.4(CFTR):c.2601dup (p.Val868fs) rs397508405
NM_000492.4(CFTR):c.2620-2A>G rs1554390859
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter) rs397508413
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg) rs121908750
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.274-2A>C rs397508426
NM_000492.4(CFTR):c.274-2A>G rs397508426
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs) rs397508431
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2825del (p.Ile942fs) rs397508441
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2896del (p.Thr966fs) rs397508451
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg) rs397508453
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) rs397508477
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.310del (p.Arg104fs) rs397508499
NM_000492.4(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn) rs397508509
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) rs397508510
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro) rs121909036
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter) rs121908761
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter) rs397508532
NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter) rs397508533
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter) rs397508536
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter) rs397508538
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter) rs397508549
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter) rs397508560
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter) rs397508561
NM_000492.4(CFTR):c.3469-2A>G rs397508570
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
NM_000492.4(CFTR):c.3600del (p.Asp1201fs) rs2116129596
NM_000492.4(CFTR):c.3605del (p.Asp1202fs) rs397508587
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter) rs121908764
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs) rs397508589
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter) rs79660178
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3717+1G>A rs750558115
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.3718-1G>A rs387906369
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg) rs397508602
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) rs797045159
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter) rs397508604
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn) rs1562923253
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter) rs397508613
NM_000492.4(CFTR):c.3848G>T (p.Arg1283Met) rs77902683
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs) rs1793108213
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) rs387906373
NM_000492.4(CFTR):c.3883del (p.Ile1295fs) rs397508630
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs) rs397508633
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter) rs375661578
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs) rs397508662
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter) rs397508669
NM_000492.4(CFTR):c.409del (p.Leu137fs) rs397508672
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.4147dup (p.Ile1383fs) rs397508685
NM_000492.4(CFTR):c.416A>G (p.His139Arg) rs76371115
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter) rs397508702
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.424del (p.Ile142fs) rs387906363
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.442del (p.Ile148fs) rs121908770
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer) rs1554379887
NM_000492.4(CFTR):c.490-2A>G rs397508735
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.50del (p.Phe17fs) rs397508714
NM_000492.4(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.543_546del (p.Leu183fs) rs397508750
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter) rs397508762
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.596A>G (p.His199Arg) rs397508764
NM_000492.4(CFTR):c.601del (p.Val201fs) rs397508767
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg) rs397508782
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer) rs1554380497
NM_000492.4(CFTR):c.723_743+1del rs121908804
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.4(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter) rs397508815
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu) rs121909016
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.987del (p.Gly330fs) rs397508824
NM_000498.3(CYP11B2):c.240-1G>A rs771164401
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr) rs41412046
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.1del (p.Met1fs) rs587776828
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.2del (p.Met1fs) rs63750678
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter) rs281864550
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.126del (p.Phe43fs) rs35755331
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.1A>G (p.Met1Val) rs34563000
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.287dup (p.Leu97fs) rs34937014
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.45dup (p.Trp16fs) rs35383398
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-2A>C rs63750513
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.631_634del (p.Phe211fs) rs2088690227
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2390-2A>G rs767790696
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs) rs1735642901
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1380del (p.His461fs) rs1848061158
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) rs1554934193
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) rs120074120
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala) rs1847935299
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.5(HBA1):c.187del (p.Val63fs) rs1377412693
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter) rs1344484845
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter) rs764247545
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.446+1G>T rs587778797
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs) rs750842366
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) rs80359846
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) rs1452984345
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) rs71647808
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.821del (p.Pro274fs) rs760559534
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter) rs1268307330
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys) rs181865675
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer) rs751871500
NM_001126108.2(SLC12A3):c.1805_1806del (p.Tyr602fs) rs2144723594
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) rs200697179
NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs) rs779215330
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) rs780299444
NM_001126108.2(SLC12A3):c.2510_2511del (p.Leu836_Phe837insTer) rs2055411543
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs) rs1555499234
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs) rs746623621
NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter) rs765609579
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) rs200219778
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs) rs758683818
NM_001126108.2(SLC12A3):c.817dup (p.Ala273fs) rs2055082369
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter) rs756675225
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) rs1236367931
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter) rs971134497
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter) rs1574354515
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs) rs1337417322
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter) rs1764939836
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) rs2149856749
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs) rs886042613
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter) rs909730457
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.5834del (p.Lys1945fs) rs774455587
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8150del (p.Lys2717fs) rs1251637752
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.9036del (p.Leu3013fs) rs1225304963
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs) rs1409801782
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.381+1G>T rs786204637
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter) rs996440530
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) rs760200697
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter) rs1363770105
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter) rs772409032
NM_001174089.2(SLC4A11):c.286C>T (p.Arg96Ter) rs780346984
NM_001174089.2(SLC4A11):c.425_432del (p.Arg142fs) rs869320721
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) rs761440783
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter) rs1743041017
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter) rs778780449
NM_001369.3(DNAH5):c.2261dup (p.Met754fs) rs672601333
NM_001369.3(DNAH5):c.3291dup (p.Pro1098fs) rs762081081
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.5482C>T (p.Gln1828Ter) rs1354919632
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6343del (p.Ile2114_Ile2115insTer) rs1474945018
NM_001369.3(DNAH5):c.7914dup (p.Arg2639fs) rs749082955
NM_001369.3(DNAH5):c.8167C>T (p.Gln2723Ter) rs1309660408
NM_001369.3(DNAH5):c.90_105dup (p.Arg36fs) rs1778379197
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer) rs1372103295
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs) rs758732551
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter) rs549857076
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs) rs1442485603
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) rs762901763
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1155del (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs) rs782549406
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001875.5(CPS1):c.1424del (p.Gly475fs) rs1375157321
NM_001875.5(CPS1):c.3558+1G>C rs1559129372
NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter) rs1435045544
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter) rs767241290
NM_001953.5(TYMP):c.516+2T>A rs797044454
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002529.4(NTRK1):c.1877dup (p.Leu627fs) rs774533432
NM_002529.4(NTRK1):c.543del (p.Leu183fs) rs1485714154
NM_002529.4(NTRK1):c.924_930del (p.Gln308fs) rs1571695851
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002778.4(PSAP):c.1A>G (p.Met1Val) rs121918106
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter) rs886041277
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu) rs538372785
NM_003060.4(SLC22A5):c.825-52G>A rs1194929977
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) rs1463057954
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro) rs188824058
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys) rs764581483
NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro) rs113994069
NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu) rs113994080
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His) rs958193703
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter) rs763572195
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) rs772264564
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) rs398123827
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10224dup (p.Pro3409fs) rs2148280837
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter) rs376745644
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs) rs398123863
NM_004006.3(DMD):c.178C>T (p.Gln60Ter) rs128626233
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs) rs398123881
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter) rs886039536
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter) rs398123953
NM_004006.3(DMD):c.4545_4549del (p.Val1515_Lys1516insTer) rs398123962
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.568C>T (p.Gln190Ter) rs2148751523
NM_004006.3(DMD):c.5697del (p.Lys1899fs) rs794727661
NM_004006.3(DMD):c.5697dup (p.Leu1900fs) rs794727661
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter) rs1425702864
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) rs398124050
NM_004006.3(DMD):c.8218-2A>G rs886039478
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter) rs863225012
NM_004006.3(DMD):c.8390+2T>C rs863225013
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter) rs2147076500
NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter) rs1556656851
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs) rs863225015
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter) rs398124092
NM_004006.3(DMD):c.9361+1G>A rs398124094
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe) rs1200031596
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg) rs1774616485
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) rs2131053943
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) rs755361015
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.1235del (p.Gly412fs) rs1161720919
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) rs2076101632
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.971-12G>A rs375952052
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs) rs786205885
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter) rs749287203
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) rs201947904
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) rs763144679
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.385C>T (p.Arg129Ter) rs372872777
NM_005476.7(GNE):c.787C>T (p.Arg263Ter) rs200643106
NM_005609.4(PYGM):c.1403+1G>A rs1191939323
NM_005609.4(PYGM):c.164_168del (p.Ala55fs) rs780193588
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter) rs773361937
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter) rs139645527
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter) rs776969786
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter) rs121434294
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs) rs1565164499
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter) rs386833968
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.694del (p.Gln232fs) rs796052082
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter) rs758888999
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) rs1555454566
NM_014249.4(NR2E3):c.724_725del (p.Ser242fs) rs750740765
NM_014249.4(NR2E3):c.808_809del (p.Leu270fs) rs2054202316
NM_014249.4(NR2E3):c.827_843del (p.Pro276fs) rs1279558746
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) rs540149539
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del) rs202247803
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs) rs761827730
NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter) rs863223955
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) rs1593133395
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014625.4(NPHS2):c.1032del (p.Phe344fs) rs1673229720
NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter) rs776016821
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.701G>A (p.Trp234Ter) rs781004589
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter) rs1399932916
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.81+1G>A rs745366624
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) rs1201229554
NM_015627.3(LDLRAP1):c.89-1G>C rs755104973
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter) rs886039425
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.811del (p.His271fs) rs1968969593
NM_018006.5(TRMU):c.706-1G>A rs778799889
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.1578+1G>T rs372006750
NM_019098.5(CNGB3):c.1781+1del rs1554607546
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1268-2A>G rs2108474093
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) rs1057516904
NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs) rs797044822
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs) rs797044823
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter) rs1039517349
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7660+1G>T rs1057520662
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) rs147903984
NM_022132.5(MCCC2):c.512-1G>A rs1282502867
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_023036.6(DNAI2):c.1422del (p.Thr475fs) rs1240172375
NM_023036.6(DNAI2):c.1494+1G>A rs397515565
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.5(GNPTAB):c.1905_1908del (p.Glu637fs) rs1441014377
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs) rs281865018
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) rs866604517
NM_024996.7(GFM1):c.1765-2_1765-1del rs1245712932
NM_024996.7(GFM1):c.3G>A (p.Met1Ile) rs863224030
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs) rs1033594764
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.5(BBS2):c.613-1G>C rs2144163316
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) rs1193250444
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1376dup (p.Gly460fs) rs104886113
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter) rs767405535
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter) rs780182068
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) rs1554183235
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1529del (p.Gly510fs) rs1807855713
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs) rs777295562
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer) rs1405067373
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter) rs1583295819
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) rs1554289495
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter) rs1482563973
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) rs774050795
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter) rs1229564017
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_152564.5(VPS13B):c.6865+1G>T rs202046738
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter) rs759455327
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter) rs1329006994
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter) rs774533927
NM_178138.6(LHX3):c.80-2A>G rs2131036410
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) rs869312129
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter) rs371117671
NM_183050.4(BCKDHB):c.348del (p.Asp117fs) rs1400121541
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter) rs1057516799
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His) rs749033513
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) rs398124601
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_201253.3(CRB1):c.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer) rs778731851
NM_201525.4(ADGRG1):c.671del (p.Asp224fs) rs1057517949
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.1389_1392dup (p.Thr465fs) rs1026405158
NM_201548.5(CERKL):c.1404del (p.Glu468_Val469insTer) rs1238123416
NM_201548.5(CERKL):c.334C>T (p.Gln112Ter) rs772748858
NM_201548.5(CERKL):c.758del (p.Met253fs) rs751149105
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) rs1661659605
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) rs1571657777
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) rs1657996197
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.4(USH2A):c.15199del (p.Ile5067fs) rs2102630527
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter) rs1426135314
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.4(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) rs397518015
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.6325+1G>A rs1293202153
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_213653.4(HJV):c.220del (p.Val74fs) rs1553769758
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.220A>G rs936059863

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