ClinVar Miner

List of variants reported as likely benign for developmental defect during embryogenesis by Natera, Inc.

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 951
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2222+73A>G rs1800341 0.06356
NM_000135.4(FANCA):c.3513+62C>T rs34019730 0.05570
NM_000203.5(IDUA):c.1727+75G>T rs2305489 0.04671
NM_001360.3(DHCR7):c.-23T>C rs12573951 0.04501
NM_001360.3(DHCR7):c.-35C>T rs75974711 0.02735
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) rs28541364 0.01398
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_000136.3(FANCC):c.1329+175C>T rs112446681 0.00401
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_004553.6(NDUFS6):c.96C>A (p.Val32=) rs140619622 0.00311
NM_000203.5(IDUA):c.1293C>T (p.Ala431=) rs559676638 0.00298
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys) rs61736595 0.00279
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_000136.3(FANCC):c.-225C>T rs182633348 0.00262
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser) rs113374262 0.00239
NM_000284.4(PDHA1):c.292-59C>T rs186854596 0.00238
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00230
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221 0.00199
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_000284.4(PDHA1):c.511-54G>A rs181933291 0.00184
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00177
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213 0.00170
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_000203.5(IDUA):c.493+10C>T rs200000194 0.00156
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_032520.5(GNPTG):c.28T>C (p.Leu10=) rs562191082 0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
NM_000466.3(PEX1):c.1797A>G (p.Gly599=) rs76986636 0.00140
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078 0.00131
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) rs144512551 0.00129
NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly) rs8062558 0.00128
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243 0.00120
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=) rs144797464 0.00103
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile) rs151009402 0.00095
NM_020533.3(MCOLN1):c.32-10A>G rs371191277 0.00093
NM_014244.5(ADAMTS2):c.2865C>T (p.His955=) rs752790963 0.00092
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341 0.00089
NM_000108.5(DLD):c.583-3C>T rs186031819 0.00088
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=) rs200678234 0.00080
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser) rs138045351 0.00080
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=) rs145386883 0.00078
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439 0.00077
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=) rs141077530 0.00074
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00073
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00072
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00066
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 0.00061
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_032520.5(GNPTG):c.183C>T (p.Pro61=) rs140264422 0.00061
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr) rs73273219 0.00061
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702 0.00060
NM_032520.5(GNPTG):c.684C>G (p.Thr228=) rs150965148 0.00060
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00057
NM_025215.6(PUS1):c.1047C>T (p.Asn349=) rs145061048 0.00057
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000136.3(FANCC):c.1329+111C>T rs527823099 0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_002485.5(NBN):c.896+4T>C rs190843577 0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_014244.5(ADAMTS2):c.984C>T (p.Ser328=) rs149253571 0.00053
NM_000478.6(ALPL):c.468C>T (p.Asp156=) rs143621566 0.00052
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415 0.00052
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_032520.5(GNPTG):c.477C>T (p.Tyr159=) rs201168011 0.00050
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn) rs200709847 0.00049
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267 0.00048
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_152564.5(VPS13B):c.6645A>C (p.Gly2215=) rs147817990 0.00048
NM_000143.4(FH):c.1299C>T (p.Asn433=) rs201994824 0.00047
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_020533.3(MCOLN1):c.36C>T (p.Thr12=) rs148187755 0.00043
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln) rs139377969 0.00042
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_001953.5(TYMP):c.1189C>T (p.Leu397=) rs777564992 0.00041
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_012243.3(SLC35A3):c.63T>G (p.Val21=) rs141542767 0.00038
NM_025215.6(PUS1):c.987C>T (p.Pro329=) rs150880557 0.00038
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=) rs372909374 0.00038
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028 0.00036
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_002617.4(PEX10):c.765G>A (p.Leu255=) rs140133667 0.00035
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_002076.4(GNS):c.468C>T (p.Ala156=) rs147780685 0.00031
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00031
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) rs148033080 0.00030
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_024996.7(GFM1):c.1102T>C (p.Leu368=) rs142843314 0.00029
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_002437.5(MPV17):c.156G>A (p.Leu52=) rs142493907 0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_001360.3(DHCR7):c.139C>T (p.Leu47=) rs140721259 0.00027
NM_014244.5(ADAMTS2):c.2958+7A>G rs377461767 0.00027
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_014244.5(ADAMTS2):c.3012C>T (p.Thr1004=) rs571054777 0.00026
NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=) rs142721501 0.00026
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_016277.5(RAB23):c.51T>C (p.Asn17=) rs141279756 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_000071.3(CBS):c.33G>A (p.Gly11=) rs567323664 0.00025
NM_000169.3(GLA):c.-44C>T rs781906252 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_002437.5(MPV17):c.249G>A (p.Val83=) rs199952690 0.00024
NM_020533.3(MCOLN1):c.1158C>T (p.Cys386=) rs139922988 0.00024
NM_033159.4(HYAL1):c.141C>T (p.His47=) rs147089930 0.00024
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=) rs145016043 0.00023
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_020320.5(RARS2):c.1512-6T>C rs185924037 0.00022
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280 0.00021
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356 0.00021
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566 0.00021
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_002437.5(MPV17):c.31C>T (p.Leu11=) rs540291444 0.00021
NM_014244.5(ADAMTS2):c.2271C>T (p.Asp757=) rs137875904 0.00021
NM_014244.5(ADAMTS2):c.3552G>A (p.Pro1184=) rs185794582 0.00021
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_001003722.2(GLE1):c.643-4A>G rs369804957 0.00020
NM_020533.3(MCOLN1):c.1152C>T (p.Asp384=) rs147455130 0.00020
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=) rs149875730 0.00019
NM_005726.6(TSFM):c.726G>A (p.Thr242=) rs140461538 0.00019
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=) rs202247664 0.00019
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=) rs575051014 0.00019
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00019
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566 0.00018
NM_014244.5(ADAMTS2):c.912C>T (p.Asp304=) rs147197558 0.00018
NM_020320.5(RARS2):c.6G>A (p.Ala2=) rs371542506 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln) rs140167865 0.00017
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val) rs142072030 0.00017
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000202.8(IDS):c.41G>A (p.Gly14Asp) rs373389352 0.00016
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_001953.5(TYMP):c.1242G>A (p.Pro414=) rs1013301590 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_003384.3(VRK1):c.216+8A>G rs369680885 0.00016
NM_003384.3(VRK1):c.906C>T (p.Tyr302=) rs528346065 0.00016
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610 0.00016
NM_033159.4(HYAL1):c.600C>A (p.Gly200=) rs374928005 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.3083-9C>T rs376659281 0.00016
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753 0.00015
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763 0.00015
NM_020533.3(MCOLN1):c.572-8G>A rs373636467 0.00015
NM_020533.3(MCOLN1):c.878-4G>A rs201492918 0.00015
NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=) rs373550277 0.00015
NM_000466.3(PEX1):c.159C>T (p.His53=) rs200950057 0.00014
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln) rs138843050 0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_014244.5(ADAMTS2):c.161C>T (p.Ala54Val) rs368221089 0.00014
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_014244.5(ADAMTS2):c.975+8C>T rs369740542 0.00014
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) rs77226826 0.00014
NM_016955.4(SEPSECS):c.84T>C (p.His28=) rs532571185 0.00014
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn) rs145191057 0.00014
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152564.5(VPS13B):c.1843+10T>C rs371154826 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_000071.3(CBS):c.133C>T (p.Arg45Trp) rs201372812 0.00013
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000202.8(IDS):c.507+6G>T rs370769925 0.00013
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) rs200504529 0.00013
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=) rs61754844 0.00013
NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=) rs138580383 0.00013
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) rs369176493 0.00013
NM_133259.4(LRPPRC):c.2392T>C (p.Leu798=) rs373554506 0.00013
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=) rs150190899 0.00012
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125 0.00012
NM_001113525.2(ZNF276):c.*1313A>G rs368376237 0.00012
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=) rs375993195 0.00012
NM_003384.3(VRK1):c.759A>G (p.Gln253=) rs150534939 0.00012
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091 0.00012
NM_152564.5(VPS13B):c.10980C>T (p.Gly3660=) rs142939294 0.00012
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_000478.6(ALPL):c.1014C>T (p.His338=) rs147688908 0.00011
NM_000489.6(ATRX):c.820T>C (p.Leu274=) rs146012355 0.00011
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 0.00011
NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=) rs201860210 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00011
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00010
NM_000071.3(CBS):c.151A>C (p.Arg51=) rs754759237 0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=) rs370514077 0.00010
NM_000108.5(DLD):c.876-6A>T rs199944006 0.00010
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581 0.00010
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_000135.4(FANCA):c.3711C>G (p.Val1237=) rs776879032 0.00010
NM_000135.4(FANCA):c.634A>C (p.Arg212=) rs754839730 0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383 0.00010
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319 0.00010
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=) rs145374203 0.00010
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=) rs557097410 0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_012243.3(SLC35A3):c.483G>A (p.Gln161=) rs370315911 0.00010
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
NM_014244.5(ADAMTS2):c.814C>T (p.Leu272=) rs531768193 0.00010
NM_024312.5(GNPTAB):c.2559A>C (p.Thr853=) rs754863486 0.00010
NM_024312.5(GNPTAB):c.2748C>T (p.Tyr916=) rs143931833 0.00010
NM_025215.6(PUS1):c.111C>T (p.Pro37=) rs543944505 0.00010
NM_032520.5(GNPTG):c.479C>T (p.Ala160Val) rs374470431 0.00010
NM_133259.4(LRPPRC):c.888C>T (p.Ser296=) rs762093225 0.00010
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=) rs781485612 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376 0.00009
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00009
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626 0.00009
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=) rs149484019 0.00009
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) rs147850435 0.00009
NM_001360.3(DHCR7):c.15G>A (p.Ser5=) rs147038941 0.00009
NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=) rs374590440 0.00009
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_024996.7(GFM1):c.1368G>A (p.Lys456=) rs774280744 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.4986C>T (p.Thr1662=) rs148773425 0.00009
NM_152564.5(VPS13B):c.9039G>A (p.Val3013=) rs542823658 0.00009
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359 0.00008
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=) rs17227389 0.00008
NM_000199.5(SGSH):c.1104C>T (p.His368=) rs111800668 0.00008
NM_000202.8(IDS):c.1006+8T>C rs782781942 0.00008
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292 0.00008
NM_000287.4(PEX6):c.1821C>T (p.Ala607=) rs201730259 0.00008
NM_000287.4(PEX6):c.390C>T (p.Thr130=) rs753963225 0.00008
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=) rs375213175 0.00008
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=) rs763786776 0.00008
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_000135.4(FANCA):c.2981+4dup rs75004096 0.00007
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00007
NM_000203.5(IDUA):c.882C>T (p.Pro294=) rs762825338 0.00007
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833 0.00007
NM_000478.6(ALPL):c.1245T>C (p.Tyr415=) rs747539132 0.00007
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00007
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg) rs782598442 0.00007
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu) rs149232501 0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_001953.5(TYMP):c.1185G>A (p.Leu395=) rs748898877 0.00007
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00007
NM_020533.3(MCOLN1):c.1650C>T (p.Ser550=) rs749335667 0.00007
NM_000108.5(DLD):c.508G>A (p.Gly170Ser) rs567286177 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000199.5(SGSH):c.840C>T (p.Ser280=) rs146904798 0.00006
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643 0.00006
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462 0.00006
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621 0.00006
NM_000203.5(IDUA):c.765G>C (p.Arg255=) rs965929339 0.00006
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586 0.00006
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp) rs200133602 0.00006
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=) rs373458498 0.00006
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001360.3(DHCR7):c.522C>T (p.Phe174=) rs140648594 0.00006
NM_002076.4(GNS):c.30G>A (p.Arg10=) rs753033310 0.00006
NM_002617.4(PEX10):c.267G>A (p.Ser89=) rs746952615 0.00006
NM_002617.4(PEX10):c.555C>T (p.His185=) rs75377471 0.00006
NM_003384.3(VRK1):c.576+8T>C rs368495945 0.00006
NM_004553.6(NDUFS6):c.9G>A (p.Ala3=) rs765884582 0.00006
NM_004629.2(FANCG):c.1048C>T (p.Leu350=) rs772109570 0.00006
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe) rs17878854 0.00006
NM_012243.3(SLC35A3):c.348G>A (p.Thr116=) rs574333514 0.00006
NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr) rs546681307 0.00006
NM_014244.5(ADAMTS2):c.1524C>A (p.Thr508=) rs778841966 0.00006
NM_014244.5(ADAMTS2):c.2709C>T (p.Ala903=) rs763792775 0.00006
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr) rs375191740 0.00006
NM_014244.5(ADAMTS2):c.723C>T (p.Arg241=) rs373732340 0.00006
NM_014244.5(ADAMTS2):c.747C>T (p.His249=) rs755476647 0.00006
NM_018006.5(TRMU):c.248+9G>A rs369189631 0.00006
NM_020320.5(RARS2):c.15T>A (p.Phe5Leu) rs545377358 0.00006
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_020533.3(MCOLN1):c.1680C>T (p.Ala560=) rs747365638 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=) rs148828179 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.2925T>C (p.His975=) rs535722018 0.00006
NM_152564.5(VPS13B):c.4890G>A (p.Val1630=) rs144069822 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_182760.4(SUMF1):c.192G>C (p.Ser64=) rs770050124 0.00006
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021 0.00005
NM_000071.3(CBS):c.1074G>A (p.Val358=) rs570135008 0.00005
NM_000135.4(FANCA):c.27C>T (p.Ser9=) rs540584108 0.00005
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450 0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000136.3(FANCC):c.897-8T>C rs878853673 0.00005
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 0.00005
NM_000202.8(IDS):c.1158C>T (p.Ser386=) rs372340411 0.00005
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858 0.00005
NM_000202.8(IDS):c.717G>A (p.Gln239=) rs782087755 0.00005
NM_000202.8(IDS):c.894G>A (p.Gln298=) rs781812519 0.00005
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.759+10C>G rs375488072 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu) rs782529714 0.00005
NM_000489.6(ATRX):c.2697G>A (p.Thr899=) rs137974888 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val) rs782257568 0.00005
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=) rs369658928 0.00005
NM_000489.6(ATRX):c.5957-9C>G rs375791318 0.00005
NM_001953.5(TYMP):c.495T>C (p.Asn165=) rs372889443 0.00005
NM_001953.5(TYMP):c.516+9C>T rs201884709 0.00005
NM_004553.6(NDUFS6):c.117C>G (p.Val39=) rs556405335 0.00005
NM_014244.5(ADAMTS2):c.3573A>G (p.Arg1191=) rs540177122 0.00005
NM_020533.3(MCOLN1):c.876C>T (p.His292=) rs199588225 0.00005
NM_020533.3(MCOLN1):c.915C>T (p.Val305=) rs578062566 0.00005
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=) rs143178200 0.00005
NM_025215.6(PUS1):c.564C>T (p.Gly188=) rs369250859 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=) rs149919865 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868 0.00004
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) rs1460026241 0.00004
NM_000135.4(FANCA):c.2088C>T (p.Ser696=) rs150917432 0.00004
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=) rs368985041 0.00004
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=) rs367630825 0.00004
NM_000136.3(FANCC):c.*7C>T rs372511678 0.00004
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) rs375362894 0.00004
NM_000199.5(SGSH):c.909A>G (p.Lys303=) rs746617014 0.00004
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132 0.00004
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256 0.00004
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662 0.00004
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466 0.00004
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083 0.00004
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu) rs759331650 0.00004
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000489.6(ATRX):c.1047C>G (p.Pro349=) rs200288042 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.2880C>T (p.Gly960=) rs782796279 0.00004
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=) rs140476563 0.00004
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=) rs762918325 0.00004
NM_001360.3(DHCR7):c.159C>T (p.Ile53=) rs752952700 0.00004
NM_001953.5(TYMP):c.1301-9G>A rs548524392 0.00004
NM_001953.5(TYMP):c.177C>T (p.Ala59=) rs137930991 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_003384.3(VRK1):c.663C>T (p.His221=) rs376006178 0.00004
NM_004629.2(FANCG):c.18C>T (p.Thr6=) rs777459203 0.00004
NM_005726.6(TSFM):c.885C>T (p.Thr295=) rs750718644 0.00004
NM_012243.3(SLC35A3):c.375A>T (p.Ala125=) rs773812783 0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_014244.5(ADAMTS2):c.2403C>T (p.Asp801=) rs374315892 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271 0.00004
NM_016277.5(RAB23):c.255T>C (p.Cys85=) rs374601145 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020320.5(RARS2):c.444C>T (p.Thr148=) rs201596004 0.00004
NM_020533.3(MCOLN1):c.1575+10A>C rs771168805 0.00004
NM_020533.3(MCOLN1):c.1716G>C (p.Ser572=) rs760559591 0.00004
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=) rs201076545 0.00004
NM_020533.3(MCOLN1):c.423C>T (p.Asp141=) rs747386198 0.00004
NM_020533.3(MCOLN1):c.531G>A (p.Pro177=) rs201211905 0.00004
NM_020533.3(MCOLN1):c.63G>A (p.Gly21=) rs754263664 0.00004
NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=) rs768309175 0.00004
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) rs572478240 0.00004
NM_024312.5(GNPTAB):c.534C>G (p.Thr178=) rs777525816 0.00004
NM_032520.5(GNPTG):c.696A>G (p.Gly232=) rs746160240 0.00004
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063 0.00004
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=) rs1052539943 0.00004
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=) rs772611068 0.00004
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=) rs752466254 0.00004
NM_152564.5(VPS13B):c.10650C>T (p.His3550=) rs372367817 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11973C>T (p.Ala3991=) rs533954733 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.345C>T (p.Ser115=) rs372489158 0.00004
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908 0.00003
NM_000071.3(CBS):c.1356G>A (p.Ala452=) rs776322450 0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=) rs148782895 0.00003
NM_000071.3(CBS):c.537C>T (p.Asp179=) rs769712423 0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=) rs149809170 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351 0.00003
NM_000143.4(FH):c.21C>T (p.Leu7=) rs1263147931 0.00003
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655 0.00003
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878 0.00003
NM_000202.8(IDS):c.1100C>T (p.Thr367Met) rs782588855 0.00003
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574 0.00003
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858 0.00003
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=) rs370257928 0.00003
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=) rs372033248 0.00003
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621 0.00003
NM_000466.3(PEX1):c.1281T>C (p.His427=) rs979077056 0.00003
NM_000478.6(ALPL):c.528C>T (p.Ala176=) rs758330265 0.00003
NM_000489.6(ATRX):c.1350T>C (p.Cys450=) rs782077373 0.00003
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr) rs370584074 0.00003
NM_000489.6(ATRX):c.3537C>T (p.Val1179=) rs782800250 0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=) rs781845474 0.00003
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=) rs762375401 0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=) rs746514019 0.00003
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001360.3(DHCR7):c.336G>A (p.Thr112=) rs759750125 0.00003
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=) rs779401555 0.00003
NM_002617.4(PEX10):c.280G>A (p.Val94Met) rs142626035 0.00003
NM_004553.6(NDUFS6):c.102G>A (p.Pro34=) rs763463147 0.00003
NM_005726.6(TSFM):c.10C>T (p.Leu4=) rs765871977 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_014244.5(ADAMTS2):c.600G>A (p.Ala200=) rs761444202 0.00003
NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=) rs767277509 0.00003
NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=) rs757765886 0.00003
NM_025215.6(PUS1):c.75-5C>T rs1363622622 0.00003
NM_032520.5(GNPTG):c.42C>T (p.Leu14=) rs776361173 0.00003
NM_032520.5(GNPTG):c.486G>A (p.Thr162=) rs377651982 0.00003
NM_032520.5(GNPTG):c.765G>A (p.Glu255=) rs762958864 0.00003
NM_033159.4(HYAL1):c.588C>T (p.Arg196=) rs782601965 0.00003
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=) rs187590711 0.00003
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile) rs753781360 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.2235G>A (p.Thr745=) rs557250154 0.00003
NM_152564.5(VPS13B):c.450T>C (p.Asn150=) rs746257136 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_000027.4(AGA):c.210C>T (p.Asp70=) rs762870187 0.00002
NM_000027.4(AGA):c.27G>T (p.Val9=) rs764924616 0.00002
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811 0.00002
NM_000108.5(DLD):c.36C>T (p.Ala12=) rs780127925 0.00002
NM_000135.4(FANCA):c.1969C>T (p.Leu657=) rs889618840 0.00002
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) rs146062039 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000136.3(FANCC):c.1248C>T (p.Ala416=) rs747051975 0.00002
NM_000136.3(FANCC):c.654G>A (p.Glu218=) rs754705988 0.00002
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690 0.00002
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850 0.00002
NM_000202.8(IDS):c.1642T>C (p.Leu548=) rs1557337560 0.00002
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858 0.00002
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763 0.00002
NM_000203.5(IDUA):c.1224C>T (p.Ala408=) rs774488302 0.00002
NM_000203.5(IDUA):c.42G>C (p.Leu14=) rs1021970063 0.00002
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) rs750401625 0.00002
NM_000284.4(PDHA1):c.759+9A>G rs2643456 0.00002
NM_000287.4(PEX6):c.106C>T (p.Leu36=) rs758416830 0.00002
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) rs764785488 0.00002
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=) rs148972713 0.00002
NM_000466.3(PEX1):c.897C>T (p.Asn299=) rs559305030 0.00002
NM_000466.3(PEX1):c.966T>C (p.Phe322=) rs375550740 0.00002
NM_000478.6(ALPL):c.1470C>T (p.Ile490=) rs771120248 0.00002
NM_000489.6(ATRX):c.1257G>A (p.Ala419=) rs185550133 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val) rs782062542 0.00002
NM_000489.6(ATRX):c.366A>G (p.Pro122=) rs782564172 0.00002
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=) rs782044671 0.00002
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=) rs754672974 0.00002
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=) rs1406149211 0.00002
NM_001360.3(DHCR7):c.1134C>T (p.Ile378=) rs773505265 0.00002
NM_004553.6(NDUFS6):c.165G>T (p.Arg55=) rs147278612 0.00002
NM_004629.2(FANCG):c.1335G>A (p.Leu445=) rs780612204 0.00002
NM_018006.5(TRMU):c.1242T>G (p.Gly414=) rs780243289 0.00002
NM_020320.5(RARS2):c.1170C>T (p.Val390=) rs780796866 0.00002
NM_020533.3(MCOLN1):c.1182G>A (p.Thr394=) rs755029960 0.00002
NM_020533.3(MCOLN1):c.1563C>T (p.Tyr521=) rs140151993 0.00002
NM_020533.3(MCOLN1):c.333C>T (p.Asp111=) rs150008188 0.00002
NM_020533.3(MCOLN1):c.338C>T (p.Ala113Val) rs201374540 0.00002
NM_020533.3(MCOLN1):c.444G>A (p.Ala148=) rs374412302 0.00002
NM_024312.5(GNPTAB):c.1317C>T (p.Ala439=) rs781704040 0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_133259.4(LRPPRC):c.1075C>T (p.Leu359=) rs768509632 0.00002
NM_133259.4(LRPPRC):c.108C>T (p.Ala36=) rs751637061 0.00002
NM_133259.4(LRPPRC):c.111C>T (p.Ala37=) rs975809121 0.00002
NM_133259.4(LRPPRC):c.3411T>C (p.Pro1137=) rs765813800 0.00002
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=) rs772729729 0.00002
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=) rs367648422 0.00002
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=) rs749865979 0.00002
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=) rs776213275 0.00002
NM_152564.5(VPS13B):c.7893G>A (p.Ala2631=) rs145460276 0.00002
NM_152564.5(VPS13B):c.8202G>C (p.Arg2734=) rs759728712 0.00002
NM_000027.4(AGA):c.177C>T (p.Ser59=) rs757480668 0.00001
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564 0.00001
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808 0.00001
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810 0.00001
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013 0.00001
NM_000071.3(CBS):c.687C>T (p.Pro229=) rs769298649 0.00001
NM_000108.5(DLD):c.1101G>A (p.Glu367=) rs377345899 0.00001
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704 0.00001
NM_000108.5(DLD):c.199-4G>T rs763348101 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.1776+10C>T rs767506133 0.00001
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) rs35402142 0.00001
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=) rs768306527 0.00001
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=) rs371228419 0.00001
NM_000135.4(FANCA):c.69C>T (p.Ala23=) rs746429608 0.00001
NM_000135.4(FANCA):c.90C>G (p.Val30=) rs532713581 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000136.3(FANCC):c.1305G>C (p.Gly435=) rs765092951 0.00001
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352 0.00001
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=) rs758842354 0.00001
NM_000136.3(FANCC):c.216A>G (p.Ala72=) rs1057523069 0.00001
NM_000136.3(FANCC):c.501T>C (p.Asn167=) rs1057520284 0.00001
NM_000136.3(FANCC):c.543G>A (p.Ala181=) rs758919360 0.00001
NM_000136.3(FANCC):c.882T>C (p.Val294=) rs750639831 0.00001
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647 0.00001
NM_000143.4(FH):c.414C>T (p.Leu138=) rs540968725 0.00001
NM_000143.4(FH):c.771T>C (p.Tyr257=) rs199909758 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.727T>C (p.Leu243=) rs782453201 0.00001
NM_000199.5(SGSH):c.1323G>C (p.Arg441=) rs202209795 0.00001
NM_000199.5(SGSH):c.1443C>T (p.Cys481=) rs747742566 0.00001
NM_000199.5(SGSH):c.1452C>T (p.Asp484=) rs763360021 0.00001
NM_000199.5(SGSH):c.384G>A (p.Pro128=) rs770944273 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300 0.00001
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418 0.00001
NM_000202.8(IDS):c.933C>T (p.Val311=) rs782608372 0.00001
NM_000203.5(IDUA):c.1056C>T (p.Phe352=) rs776110061 0.00001
NM_000203.5(IDUA):c.1536C>T (p.Ala512=) rs1392263774 0.00001
NM_000203.5(IDUA):c.162C>A (p.Pro54=) rs1378930636 0.00001
NM_000203.5(IDUA):c.534G>A (p.Glu178=) rs762533612 0.00001
NM_000203.5(IDUA):c.693C>T (p.Ser231=) rs529773032 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453 0.00001
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=) rs752918057 0.00001
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480 0.00001
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 0.00001
NM_000287.4(PEX6):c.1365A>G (p.Pro455=) rs759402659 0.00001
NM_000287.4(PEX6):c.795C>G (p.Pro265=) rs545106357 0.00001
NM_000318.3(PEX2):c.66A>C (p.Ala22=) rs572094828 0.00001
NM_000466.3(PEX1):c.2853T>C (p.His951=) rs768094112 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3510G>A (p.Leu1170=) rs368014758 0.00001
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806 0.00001
NM_000466.3(PEX1):c.894T>C (p.Tyr298=) rs1792856461 0.00001
NM_000489.6(ATRX):c.1206T>A (p.Ile402=) rs782635950 0.00001
NM_000489.6(ATRX):c.1492A>G (p.Arg498Gly) rs781942266 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=) rs782279780 0.00001
NM_000489.6(ATRX):c.3885G>A (p.Glu1295=) rs781858736 0.00001
NM_000489.6(ATRX):c.4002A>T (p.Pro1334=) rs782625886 0.00001
NM_000489.6(ATRX):c.4203G>A (p.Arg1401=) rs1399734659 0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=) rs782223625 0.00001
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=) rs547133035 0.00001
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=) rs750890285 0.00001
NM_000528.4(MAN2B1):c.906C>T (p.Ala302=) rs749372996 0.00001
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001360.3(DHCR7):c.442C>T (p.Leu148=) rs758693177 0.00001
NM_001360.3(DHCR7):c.45A>G (p.Leu15=) rs150214075 0.00001
NM_001360.3(DHCR7):c.771G>A (p.Ala257=) rs200232012 0.00001
NM_001953.5(TYMP):c.198G>A (p.Ala66=) rs1172184794 0.00001
NM_002437.5(MPV17):c.390C>G (p.Ala130=) rs760281019 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00001
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) rs767385265 0.00001
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=) rs761280692 0.00001
NM_014244.5(ADAMTS2):c.1419C>T (p.His473=) rs758260638 0.00001
NM_014244.5(ADAMTS2):c.1501A>G (p.Met501Val) rs757394676 0.00001
NM_014244.5(ADAMTS2):c.1683C>T (p.Asp561=) rs368700721 0.00001
NM_014244.5(ADAMTS2):c.1848C>T (p.Pro616=) rs569510744 0.00001
NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=) rs768036305 0.00001
NM_014244.5(ADAMTS2):c.312G>A (p.Glu104=) rs781264319 0.00001
NM_014244.5(ADAMTS2):c.3327G>A (p.Pro1109=) rs769116395 0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336 0.00001
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_018006.5(TRMU):c.1125C>T (p.Asp375=) rs779022860 0.00001
NM_020320.5(RARS2):c.660A>C (p.Ala220=) rs553502877 0.00001
NM_020320.5(RARS2):c.885A>G (p.Gly295=) rs769636930 0.00001
NM_020533.3(MCOLN1):c.*8T>C rs751699944 0.00001
NM_020533.3(MCOLN1):c.1071G>T (p.Leu357=) rs929597481 0.00001
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=) rs777036069 0.00001
NM_020533.3(MCOLN1):c.625C>T (p.Leu209Phe) rs576022241 0.00001
NM_020533.3(MCOLN1):c.840C>T (p.His280=) rs766269225 0.00001
NM_020533.3(MCOLN1):c.878-10C>T rs572407593 0.00001
NM_020533.3(MCOLN1):c.948C>T (p.Cys316=) rs759397627 0.00001
NM_024120.5(NDUFAF5):c.263+8G>A rs200867652 0.00001
NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=) rs1199767012 0.00001
NM_024120.5(NDUFAF5):c.678A>C (p.Gly226=) rs143253877 0.00001
NM_024312.5(GNPTAB):c.1530G>A (p.Ala510=) rs776105842 0.00001
NM_024312.5(GNPTAB):c.2094A>G (p.Val698=) rs778029826 0.00001
NM_024312.5(GNPTAB):c.228C>T (p.Asp76=) rs540190619 0.00001
NM_024996.7(GFM1):c.1830C>T (p.Val610=) rs139680551 0.00001
NM_024996.7(GFM1):c.2016T>C (p.His672=) rs755853174 0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=) rs746905159 0.00001
NM_032520.5(GNPTG):c.36C>T (p.Leu12=) rs1567179547 0.00001
NM_133259.4(LRPPRC):c.1488+8C>G rs772715775 0.00001
NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=) rs1352013098 0.00001
NM_133259.4(LRPPRC):c.3174A>G (p.Ala1058=) rs755280196 0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502 0.00001
NM_133259.4(LRPPRC):c.777A>G (p.Arg259=) rs749089358 0.00001
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=) rs1335563220 0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=) rs1251787808 0.00001
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=) rs780309535 0.00001
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=) rs1358940142 0.00001
NM_152564.5(VPS13B):c.1077T>C (p.Tyr359=) rs541332942 0.00001
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=) rs368092348 0.00001
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=) rs749637946 0.00001
NM_152564.5(VPS13B):c.1344G>T (p.Gly448=) rs1395837319 0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) rs146450992 0.00001
NM_152564.5(VPS13B):c.5220+8T>C rs78899648 0.00001
NM_152564.5(VPS13B):c.5511A>G (p.Gln1837=) rs767953687 0.00001
NM_152564.5(VPS13B):c.6879G>A (p.Leu2293=) rs753494412 0.00001
NM_152564.5(VPS13B):c.7047A>G (p.Leu2349=) rs201133836 0.00001
NM_152564.5(VPS13B):c.7247+9T>C rs545008110 0.00001
NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=) rs758044842 0.00001
NM_152564.5(VPS13B):c.9298C>T (p.Leu3100=) rs780381150 0.00001
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=) rs1383239374 0.00001
NM_152564.5(VPS13B):c.9585G>A (p.Gly3195=) rs1334078728 0.00001
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576 0.00001
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu) rs752083773 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_182760.4(SUMF1):c.48G>C (p.Leu16=) rs921740271 0.00001
NM_182760.4(SUMF1):c.78G>A (p.Ser26=) rs534380202 0.00001
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.19T>C (p.Leu7=) rs2111028551
NM_000071.3(CBS):c.1089G>A (p.Glu363=) rs1601343953
NM_000071.3(CBS):c.1290C>T (p.Thr430=) rs746564702
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.3(CBS):c.667-10_667-7del rs376011228
NM_000071.3(CBS):c.747C>T (p.Asp249=) rs1601356424
NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer) rs1555874223
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000135.4(FANCA):c.1123T>C (p.Leu375=) rs2040093515
NM_000135.4(FANCA):c.12G>T (p.Ser4=) rs1009539881
NM_000135.4(FANCA):c.1986C>A (p.Ala662=) rs568935135
NM_000135.4(FANCA):c.255C>A (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=) rs1051421921
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.69C>G (p.Ala23=) rs746429608
NM_000135.4(FANCA):c.826+10T>C rs536052530
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1071A>G (p.Gln357=) rs1057522128
NM_000136.3(FANCC):c.1107G>A (p.Lys369=) rs1321399501
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1254C>T (p.Pro418=) rs1057521431
NM_000136.3(FANCC):c.1264C>T (p.Leu422=) rs756716463
NM_000136.3(FANCC):c.1467C>T (p.His489=) rs1554828385
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1524C>T (p.Val508=) rs765766432
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.222T>C (p.Ala74=) rs1554857821
NM_000136.3(FANCC):c.336C>T (p.Ser112=) rs1057521125
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.738C>T (p.His246=) rs1414558793
NM_000143.4(FH):c.105G>C (p.Ser35=) rs181655698
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1338C>T (p.His446=) rs762208419
NM_000199.5(SGSH):c.1449C>T (p.Pro483=) rs779836312
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.540C>A (p.Pro180=) rs749721134
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000203.5(IDUA):c.1449C>T (p.Pro483=) rs761637332
NM_000203.5(IDUA):c.1479C>G (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.590-8C>G rs6848974
NM_000203.5(IDUA):c.675C>T (p.Phe225=) rs767436466
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer) rs1555935577
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.336G>T (p.Leu112=) rs1194598013
NM_000287.4(PEX6):c.855C>A (p.Pro285=) rs757897959
NM_000287.4(PEX6):c.948A>T (p.Pro316=) rs781704566
NM_000318.3(PEX2):c.717C>T (p.Thr239=) rs2132043284
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632
NM_000466.3(PEX1):c.1056G>A (p.Val352=) rs1348024001
NM_000466.3(PEX1):c.1152A>G (p.Leu384=) rs776933950
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.1338G>A (p.Lys446=) rs543863652
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.2565T>G (p.Thr855=) rs1472376635
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.711T>A (p.Val237=) rs758443247
NM_000478.6(ALPL):c.1290T>C (p.Asn430=) rs200330153
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.369C>A (p.Ala123=) rs201342272
NM_000478.6(ALPL):c.831C>T (p.Thr277=) rs1458491740
NM_000489.6(ATRX):c.1827A>G (p.Pro609=) rs1603222884
NM_000489.6(ATRX):c.1938A>G (p.Leu646=) rs2148611303
NM_000489.6(ATRX):c.3417T>C (p.Asn1139=) rs1603216127
NM_000489.6(ATRX):c.4318-10A>C rs781946372
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del) rs587780288
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.6699+10T>C rs1602531185
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_001360.3(DHCR7):c.282G>A (p.Arg94=) rs541593878
NM_001360.3(DHCR7):c.465C>T (p.His155=) rs1949346657
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn) rs570438867
NM_002076.4(GNS):c.132C>G (p.Thr44=) rs1592514574
NM_002485.5(NBN):c.105T>A (p.Ile35=) rs78870221
NM_002485.5(NBN):c.1182A>G (p.Arg394=) rs1586059412
NM_002485.5(NBN):c.2071-8T>C rs1178683426
NM_002617.4(PEX10):c.819C>T (p.Cys273=) rs1570098961
NM_003384.3(VRK1):c.690C>T (p.Ile230=) rs747694940
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004553.6(NDUFS6):c.67C>T (p.Leu23=) rs1014264454
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.2(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.1746G>A (p.Lys582=) rs1763133750
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2545C>T (p.Leu849=) rs1581140577
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902
NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=) rs1235773868
NM_014244.5(ADAMTS2):c.42C>G (p.Pro14=) rs1581302053
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr) rs543859669
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.75G>T (p.Pro25=) rs965841596
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) rs140295281
NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn) rs760435544
NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile) rs760435544
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_020320.5(RARS2):c.1587-10C>G rs531179961
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1032G>C (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1053C>G (p.Val351=) rs566285864
NM_020533.3(MCOLN1):c.1053C>T (p.Val351=) rs566285864
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_020533.3(MCOLN1):c.1335C>T (p.Ile445=) rs764352100
NM_020533.3(MCOLN1):c.264G>A (p.Gln88=) rs554380139
NM_020533.3(MCOLN1):c.648C>T (p.Ser216=) rs2146023575
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.1863C>T (p.Asn621=) rs758930596
NM_024312.5(GNPTAB):c.1947C>T (p.Tyr649=) rs746619207
NM_024312.5(GNPTAB):c.2148G>A (p.Leu716=) rs374600127
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024996.7(GFM1):c.1308C>T (p.Asn436=) rs1187874654
NM_024996.7(GFM1):c.192A>G (p.Glu64=) rs1576720639
NM_024996.7(GFM1):c.498C>T (p.Asn166=) rs762364300
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_025215.6(PUS1):c.1065G>A (p.Pro355=) rs147555676
NM_032520.5(GNPTG):c.862A>C (p.Arg288=) rs200471078
NM_133259.4(LRPPRC):c.1248C>T (p.Leu416=) rs1263285909
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1506T>C (p.Ser502=) rs1163183496
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) rs374400665
NM_133259.4(LRPPRC):c.2761G>T (p.Ala921Ser) rs775312269
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=) rs746573924
NM_133259.4(LRPPRC):c.42C>T (p.Ala14=) rs1572599036
NM_133259.4(LRPPRC):c.582A>G (p.Gln194=) rs148494289
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=) rs746691768
NM_152564.5(VPS13B):c.7051-7A>C rs772934540
NM_152564.5(VPS13B):c.8703A>G (p.Gly2901=) rs1588744960
NM_182760.4(SUMF1):c.258C>G (p.Leu86=) rs776950607
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg) rs776028375
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.954+7A>G rs560003466

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