ClinVar Miner

List of variants studied for bone disorder by Natera, Inc.

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2703
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99496
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99137
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97788
NM_000396.4(CTSK):c.831A>G (p.Ala277=) rs10788796 0.97586
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.93245
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72808
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66547
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.53338
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_000288.4(PEX7):c.130+48_130+53dup rs11283064 0.50803
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_182760.4(SUMF1):c.*10A>G rs35083095 0.42905
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.41582
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.40016
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34386
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.33916
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31647
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.31135
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.29947
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.26326
NM_000203.5(IDUA):c.1525-38T>C rs1131853 0.21794
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.21694
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590 0.20341
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile) rs3110234 0.17829
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17458
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.17199
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.17147
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_000203.5(IDUA):c.1524+41G>T rs188458034 0.14873
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.12941
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11622
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11087
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val) rs4732748 0.10090
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.10006
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09708
NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527 0.09632
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07594
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_001039958.2(MESP2):c.412G>A (p.Val138Met) rs28462216 0.06491
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_000135.4(FANCA):c.2222+73A>G rs1800341 0.06356
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06235
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05997
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05989
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536 0.05436
NM_000135.4(FANCA):c.3513+62C>T rs34019730 0.05387
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05293
NM_001039958.2(MESP2):c.558G>A (p.Gln186=) rs28546919 0.05106
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_001039958.2(MESP2):c.531G>A (p.Ala177=) rs75049807 0.04869
NM_000203.5(IDUA):c.1727+75G>T rs2305489 0.04661
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04490
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_000199.5(SGSH):c.746-4A>G rs7218267 0.04197
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522 0.04137
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04103
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr) rs3729734 0.03927
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292 0.03419
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917 0.03300
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_000203.5(IDUA):c.300-44C>T rs3755956 0.03215
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03038
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02883
NM_000135.4(FANCA):c.1360-7C>T rs17232616 0.02834
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02789
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640 0.02554
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_000199.5(SGSH):c.249+52G>A rs113672699 0.02447
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe) rs71647807 0.02419
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_003659.4(AGPS):c.207A>G (p.Ala69=) rs34744592 0.02410
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455 0.02265
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02117
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02108
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.01972
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_003659.4(AGPS):c.261-5A>C rs73029113 0.01813
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01578
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val) rs114956994 0.01467
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01368
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01342
NM_032520.5(GNPTG):c.233+7G>T rs9926432 0.01285
NM_182760.4(SUMF1):c.59T>G (p.Leu20Arg) rs79985808 0.01279
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01249
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01184
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924 0.01147
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01132
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01090
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974 0.01056
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_000135.4(FANCA):c.3935-9G>A rs9282680 0.01028
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_001017420.3(ESCO2):c.510G>A (p.Val170=) rs112031297 0.01021
NM_000135.4(FANCA):c.2504+161T>C rs17233050 0.01020
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.00979
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029 0.00947
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00921
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00918
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00879
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_001127671.2(LIFR):c.1732G>A (p.Asp578Asn) rs3729740 0.00852
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251 0.00829
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340 0.00809
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305 0.00795
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00780
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00661
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00638
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455 0.00595
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00587
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00583
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362 0.00580
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237 0.00579
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00575
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00558
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00547
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890 0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00463
NM_001127671.2(LIFR):c.2766T>C (p.Asp922=) rs61027880 0.00460
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00447
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00442
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00423
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202 0.00421
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799 0.00400
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr) rs115144373 0.00393
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00389
NM_000136.3(FANCC):c.1329+175C>T rs112446681 0.00385
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00367
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00349
NM_001017420.3(ESCO2):c.820C>G (p.Leu274Val) rs111667783 0.00348
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00346
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018 0.00337
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_032520.5(GNPTG):c.910A>G (p.Ser304Gly) rs7187001 0.00332
NM_001039958.2(MESP2):c.717G>C (p.Gly239=) rs181559095 0.00329
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00329
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00328
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001127671.2(LIFR):c.789A>G (p.Val263=) rs141925289 0.00321
NM_024312.5(GNPTAB):c.1500C>T (p.Asn500=) rs77597686 0.00317
NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) rs35087810 0.00316
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00315
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_000203.5(IDUA):c.1293C>T (p.Ala431=) rs559676638 0.00298
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00297
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004 0.00292
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492 0.00285
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00282
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538 0.00279
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00256
NM_000027.4(AGA):c.*8T>C rs112307209 0.00255
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297 0.00252
NM_032520.5(GNPTG):c.450T>G (p.His150Gln) rs147109185 0.00252
NM_000136.3(FANCC):c.-225C>T rs182633348 0.00247
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00235
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00228
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00215
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00211
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00205
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00199
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221 0.00199
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00197
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00191
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_003659.4(AGPS):c.1233+5A>G rs370777451 0.00181
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00180
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00177
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00176
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp) rs139290127 0.00175
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00174
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00172
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482 0.00166
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_000135.4(FANCA):c.1360-10C>G rs150836356 0.00165
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00164
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro) rs185706635 0.00162
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_017777.4(MKS1):c.12C>T (p.Thr4=) rs372471169 0.00160
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00158
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00156
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_032520.5(GNPTG):c.28T>C (p.Leu10=) rs562191082 0.00148
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00142
NM_000203.5(IDUA):c.493+10C>T rs200000194 0.00139
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801 0.00137
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00132
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly) rs8062558 0.00128
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129 0.00128
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243 0.00119
NM_006019.4(TCIRG1):c.412C>T (p.Pro138Ser) rs35354504 0.00118
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) rs3751249 0.00116
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00115
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=) rs111788154 0.00110
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00106
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764 0.00103
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser) rs548112443 0.00101
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=) rs377108710 0.00099
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00095
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00095
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln) rs142599919 0.00093
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00090
NM_000396.4(CTSK):c.399+9C>T rs188468815 0.00090
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341 0.00089
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611 0.00088
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_024312.5(GNPTAB):c.204-7G>A rs201226931 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00086
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297 0.00085
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00084
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667 0.00082
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_000396.4(CTSK):c.-1-9C>T rs200480574 0.00080
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_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00079
NM_032520.5(GNPTG):c.161A>T (p.Asp54Val) rs368478807 0.00079
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815 0.00077
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00076
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00076
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00076
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147 0.00075
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00074
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=) rs141077530 0.00074
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230 0.00072
NM_003659.4(AGPS):c.1086C>T (p.His362=) rs138280491 0.00072
NM_006019.4(TCIRG1):c.611C>T (p.Pro204Leu) rs373711940 0.00071
NM_182760.4(SUMF1):c.128C>T (p.Ala43Val) rs200789939 0.00071
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln) rs139281846 0.00069
NM_006019.4(TCIRG1):c.1887+131G>A rs78820476 0.00069
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00068
NM_014140.4(SMARCAL1):c.1850G>T (p.Arg617Leu) rs199805996 0.00068
NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=) rs112000802 0.00068
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_001127671.2(LIFR):c.3039G>C (p.Val1013=) rs754819659 0.00065
NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser) rs201904631 0.00064
NM_001127671.2(LIFR):c.1915A>T (p.Met639Leu) rs143808825 0.00064
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573 0.00063
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_001039958.2(MESP2):c.793A>G (p.Thr265Ala) rs201002566 0.00061
NM_032520.5(GNPTG):c.183C>T (p.Pro61=) rs140264422 0.00061
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767 0.00061
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00060
NM_032520.5(GNPTG):c.684C>G (p.Thr228=) rs150965148 0.00060
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00058
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=) rs148948607 0.00058
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=) rs77410031 0.00058
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702 0.00057
NM_003659.4(AGPS):c.54C>T (p.Ser18=) rs774742400 0.00057
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 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_006019.4(TCIRG1):c.1487C>T (p.Thr496Met) rs141474168 0.00056
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) rs530062090 0.00055
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958 0.00055
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00055
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val) rs199905841 0.00055
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00055
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn) rs138811990 0.00054
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_032520.5(GNPTG):c.-10C>A rs1017797000 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00052
NM_000203.5(IDUA):c.493+7G>A rs200509712 0.00052
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663 0.00051
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267 0.00050
NM_032520.5(GNPTG):c.477C>T (p.Tyr159=) rs201168011 0.00050
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00046
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729 0.00046
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780 0.00045
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234 0.00045
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His) rs139041112 0.00044
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg) rs146856673 0.00044
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_002076.4(GNS):c.117G>T (p.Gly39=) rs371407400 0.00043
NM_002076.4(GNS):c.876-3C>T rs73323465 0.00043
NM_024312.5(GNPTAB):c.3114C>T (p.His1038=) rs148918729 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met) rs193302860 0.00043
NM_032520.5(GNPTG):c.903G>A (p.Leu301=) rs141807632 0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00042
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514 0.00042
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_024312.5(GNPTAB):c.3123G>A (p.Pro1041=) rs138655417 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_000135.4(FANCA):c.3408+9C>G rs377702890 0.00040
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141 0.00040
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331 0.00040
NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=) rs200900947 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_032520.5(GNPTG):c.525A>C (p.Leu175=) rs144136497 0.00039
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980 0.00038
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=) rs149917909 0.00038
NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu) rs118141250 0.00038
NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr) rs200431186 0.00038
NM_032520.5(GNPTG):c.603C>T (p.Thr201=) rs146171435 0.00038
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=) rs372909374 0.00038
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479 0.00037
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028 0.00037
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp) rs529571746 0.00035
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780 0.00035
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205 0.00035
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00034
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp) rs778087162 0.00034
NM_003659.4(AGPS):c.231G>A (p.Ala77=) rs576982787 0.00034
NM_024312.5(GNPTAB):c.348G>A (p.Thr116=) rs145244231 0.00034
NM_032520.5(GNPTG):c.472G>A (p.Val158Ile) rs138018487 0.00034
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971 0.00033
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00033
NM_000027.4(AGA):c.792G>A (p.Met264Ile) rs369967348 0.00032
NM_000199.5(SGSH):c.89-4G>A rs375536965 0.00032
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466 0.00032
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly) rs141391488 0.00032
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300 0.00031
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00031
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335 0.00031
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00031
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser) rs141276889 0.00030
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=) rs151159565 0.00030
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00030
NM_032520.5(GNPTG):c.8C>T (p.Ala3Val) rs867217705 0.00030
NM_000027.4(AGA):c.979A>G (p.Ser327Gly) rs369035792 0.00029
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) rs146715254 0.00029
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly) rs147058538 0.00029
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842 0.00029
NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336 0.00029
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys) rs181513926 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_032520.5(GNPTG):c.13C>T (p.Leu5=) rs543660760 0.00029
NM_002076.4(GNS):c.468C>T (p.Ala156=) rs147780685 0.00028
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met) rs183435240 0.00028
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346 0.00027
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00027
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_001039958.2(MESP2):c.357G>C (p.Leu119=) rs575410954 0.00026
NM_014140.4(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846 0.00026
NM_016277.5(RAB23):c.51T>C (p.Asn17=) rs141279756 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087 0.00025
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys) rs202051939 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_032520.5(GNPTG):c.527-8G>A rs374454359 0.00025
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser) rs144941693 0.00024
NM_006019.4(TCIRG1):c.1464-10G>A rs370060039 0.00024
NM_006019.4(TCIRG1):c.2046T>C (p.Pro682=) rs373493580 0.00024
NM_017777.4(MKS1):c.83T>C (p.Val28Ala) rs201957874 0.00024
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_001017420.3(ESCO2):c.382G>A (p.Gly128Arg) rs143828675 0.00023
NM_014140.4(SMARCAL1):c.2427+9C>T rs201601053 0.00023
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00023
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile) rs190614894 0.00023
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000 0.00022
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_001039958.2(MESP2):c.1017C>T (p.Pro339=) rs370227491 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser) rs146476305 0.00022
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) rs547624231 0.00022
NM_033159.4(HYAL1):c.141C>T (p.His47=) rs147089930 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566 0.00021
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=) rs535236969 0.00021
NM_003659.4(AGPS):c.951C>T (p.Arg317=) rs146526791 0.00021
NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr) rs149718548 0.00021
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579 0.00020
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00020
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356 0.00020
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480 0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00020
NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln) rs201661352 0.00020
NM_017777.4(MKS1):c.469G>A (p.Glu157Lys) rs200970148 0.00020
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602 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_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_001039958.2(MESP2):c.355C>T (p.Leu119=) rs373605220 0.00019
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006019.4(TCIRG1):c.1743C>T (p.Phe581=) rs148391697 0.00019
NM_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_017777.4(MKS1):c.1408-3C>T rs377033273 0.00019
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00018
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met) rs372961495 0.00018
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753 0.00017
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763 0.00017
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337 0.00017
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr) rs112571714 0.00017
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000135.4(FANCA):c.2504+6C>G rs749556479 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu) rs1462850727 0.00016
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798 0.00016
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582 0.00016
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316 0.00016
NM_000263.4(NAGLU):c.678+4A>G rs368199655 0.00016
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=) rs559827776 0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515 0.00016
NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu) rs377023417 0.00016
NM_002076.4(GNS):c.5G>C (p.Arg2Pro) rs759075764 0.00016
NM_003659.4(AGPS):c.157C>T (p.Leu53=) rs77810072 0.00016
NM_006019.4(TCIRG1):c.2414+7G>A rs200879286 0.00016
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610 0.00016
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu) rs950609840 0.00016
NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln) rs150841760 0.00016
NM_033159.4(HYAL1):c.600C>A (p.Gly200=) rs374928005 0.00016
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser) rs371273730 0.00016
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00015
NM_000046.5(ARSB):c.312+4C>T rs770927433 0.00015
NM_000135.4(FANCA):c.79+10C>T rs573174362 0.00015
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000202.8(IDS):c.41G>A (p.Gly14Asp) rs373389352 0.00015
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626 0.00015
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028 0.00015
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) rs201446793 0.00015
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171 0.00015
NM_001039958.2(MESP2):c.183C>T (p.Ser61=) rs753168674 0.00015
NM_006019.4(TCIRG1):c.942G>A (p.Thr314=) rs764846667 0.00015
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_000027.4(AGA):c.941-5C>T rs377622082 0.00014
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095 0.00014
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly) rs191035238 0.00014
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121 0.00014
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro) rs62178625 0.00014
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys) rs200340896 0.00014
NM_032520.5(GNPTG):c.551T>A (p.Leu184Gln) rs773290124 0.00014
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00013
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00013
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 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_000396.4(CTSK):c.244-10_244-8del rs774922287 0.00013
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro) rs543824186 0.00013
NM_001127671.2(LIFR):c.2671-10T>G rs201596849 0.00013
NM_006019.4(TCIRG1):c.118-6C>T rs375317575 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349 0.00013
NM_024312.5(GNPTAB):c.1302T>G (p.Pro434=) rs113038721 0.00013
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00013
NM_032520.5(GNPTG):c.48C>T (p.Ala16=) rs942079497 0.00013
NM_032520.5(GNPTG):c.53-10C>A rs564853174 0.00013
NM_032520.5(GNPTG):c.837G>A (p.Leu279=) rs61739427 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 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_000202.8(IDS):c.507+6G>T rs370769925 0.00012
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 0.00012
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00012
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=) rs751122020 0.00012
NM_017777.4(MKS1):c.959-4G>A rs201137386 0.00012
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091 0.00012
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00012
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254 0.00011
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00011
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001039958.2(MESP2):c.408G>T (p.Ser136=) rs760746152 0.00011
NM_006019.4(TCIRG1):c.1464-5C>T rs372813575 0.00011
NM_006019.4(TCIRG1):c.21C>T (p.Ser7=) rs373244328 0.00011
NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val) rs144775787 0.00011
NM_006019.4(TCIRG1):c.387C>T (p.Ala129=) rs763756780 0.00011
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) rs372995559 0.00011
NM_014140.4(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln) rs139997459 0.00011
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225 0.00011
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_182760.4(SUMF1):c.797C>T (p.Pro266Leu) rs763243827 0.00011
NM_000046.5(ARSB):c.393G>T (p.Gln131His) rs139174369 0.00010
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) rs747322973 0.00010
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581 0.00010
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361 0.00010
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) rs376888740 0.00010
NM_000135.4(FANCA):c.2842G>C (p.Asp948His) rs778254482 0.00010
NM_000135.4(FANCA):c.3711C>G (p.Val1237=) rs776879032 0.00010
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00010
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511 0.00010
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286 0.00010
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00010
NM_000199.5(SGSH):c.964A>G (p.Ile322Val) rs151243903 0.00010
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp) rs565375837 0.00010
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637 0.00010
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu) rs925593750 0.00010
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152 0.00010
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=) rs370455274 0.00010
NM_001127671.2(LIFR):c.2886C>T (p.Ala962=) rs775970749 0.00010
NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=) rs147119709 0.00010
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=) rs142314193 0.00010
NM_024312.5(GNPTAB):c.2715C>T (p.Asp905=) rs374249911 0.00010
NM_024312.5(GNPTAB):c.2748C>T (p.Tyr916=) rs143931833 0.00010
NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr) rs373314316 0.00010
NM_032520.5(GNPTG):c.479C>T (p.Ala160Val) rs374470431 0.00010
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp) rs587774476 0.00010
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met) rs367831580 0.00010
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala) rs769542268 0.00009
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) rs369988875 0.00009
NM_000135.4(FANCA):c.1771C>G (p.Arg591Gly) rs753980264 0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His) rs145552439 0.00009
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_000135.4(FANCA):c.634A>C (p.Arg212=) rs754839730 0.00009
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu) rs555519520 0.00009
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383 0.00009
NM_000199.5(SGSH):c.506+9C>T rs376523398 0.00009
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187 0.00009
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr) rs202115696 0.00009
NM_000396.4(CTSK):c.22C>T (p.Leu8=) rs138360770 0.00009
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=) rs146331898 0.00009
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=) rs149484019 0.00009
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) rs894593728 0.00009
NM_001127671.2(LIFR):c.2591+6A>T rs372291945 0.00009
NM_002076.4(GNS):c.624+10A>G rs757526895 0.00009
NM_003659.4(AGPS):c.1029T>C (p.Gly343=) rs368667324 0.00009
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006019.4(TCIRG1):c.97G>A (p.Gly33Ser) rs775576535 0.00009
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=) rs565316605 0.00009
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683 0.00009
NM_017777.4(MKS1):c.858+6C>T rs368774719 0.00009
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_024312.5(GNPTAB):c.984A>G (p.Glu328=) rs376330291 0.00009
NM_032520.5(GNPTG):c.113T>C (p.Val38Ala) rs372379104 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_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val) rs777906405 0.00008
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.3935-6T>C rs368376237 0.00008
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00008
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507 0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960 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.1144G>C (p.Asp382His) rs370125505 0.00008
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292 0.00008
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu) rs199554923 0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=) rs763786776 0.00008
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=) rs199592101 0.00008
NM_001039958.2(MESP2):c.18T>A (p.Pro6=) rs529998749 0.00008
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=) rs200521119 0.00008
NM_002076.4(GNS):c.*3dup rs766104697 0.00008
NM_002076.4(GNS):c.462C>T (p.Tyr154=) rs139536679 0.00008
NM_003659.4(AGPS):c.921C>T (p.Phe307=) rs138275695 0.00008
NM_006019.4(TCIRG1):c.1305+7G>C rs368136779 0.00008
NM_006019.4(TCIRG1):c.1898A>G (p.Gln633Arg) rs765175241 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_014140.4(SMARCAL1):c.1468C>T (p.Arg490Cys) rs371394232 0.00008
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350 0.00008
NM_024312.5(GNPTAB):c.1960A>G (p.Ser654Gly) rs151209875 0.00008
NM_032520.5(GNPTG):c.130C>G (p.Pro44Ala) rs771564346 0.00008
NM_032520.5(GNPTG):c.295A>G (p.Asn99Asp) rs143383133 0.00008
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro) rs1025643467 0.00008
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala) rs369469113 0.00008
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr) rs369975831 0.00008
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00007
NM_000135.4(FANCA):c.2222+7G>A rs374312736 0.00007
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) rs746125523 0.00007
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) rs774863156 0.00007
NM_000135.4(FANCA):c.2981+4dup rs75004096 0.00007
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro) rs556235245 0.00007
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00007
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=) rs17227389 0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748 0.00007
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) rs766809608 0.00007
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys) rs185822330 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys) rs140992397 0.00007
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp) rs571548182 0.00007
NM_000136.3(FANCC):c.889A>T (p.Met297Leu) rs730881719 0.00007
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124 0.00007
NM_000199.5(SGSH):c.720C>T (p.Tyr240=) rs367654527 0.00007
NM_000199.5(SGSH):c.840C>T (p.Ser280=) rs146904798 0.00007
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00007
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662 0.00007
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu) rs371369206 0.00007
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00007
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00007
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001127671.2(LIFR):c.2463G>A (p.Pro821=) rs749085598 0.00007
NM_006019.4(TCIRG1):c.1010G>A (p.Arg337Gln) rs139263189 0.00007
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006019.4(TCIRG1):c.941C>T (p.Thr314Met) rs367818260 0.00007
NM_014140.4(SMARCAL1):c.1030G>A (p.Glu344Lys) rs370663120 0.00007
NM_014140.4(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758 0.00007
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00007
NM_017777.4(MKS1):c.1134A>G (p.Glu378=) rs77365082 0.00007
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met) rs755841031 0.00007
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00007
NM_017777.4(MKS1):c.994G>A (p.Val332Ile) rs775391594 0.00007
NM_024312.5(GNPTAB):c.2559A>C (p.Thr853=) rs754863486 0.00007
NM_024312.5(GNPTAB):c.2886C>T (p.Asp962=) rs368650569 0.00007
NM_024312.5(GNPTAB):c.3336-6A>G rs371971179 0.00007
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00007
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104 0.00007
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00007
NM_000027.4(AGA):c.523C>T (p.Pro175Ser) rs367968495 0.00006
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828 0.00006
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00006
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342 0.00006
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654 0.00006
NM_000135.4(FANCA):c.1226-4C>G rs934483477 0.00006
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744 0.00006
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00006
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu) rs373147908 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro) rs587779903 0.00006
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00006
NM_000136.3(FANCC):c.974C>T (p.Ala325Val) rs367618818 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00006
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643 0.00006
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg) rs753372554 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_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342 0.00006
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.418-3T>C rs770117560 0.00006
NM_000396.4(CTSK):c.117C>T (p.Asn39=) rs369459638 0.00006
NM_000528.4(MAN2B1):c.2047-4G>A rs768347546 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_001017420.3(ESCO2):c.393C>T (p.Val131=) rs552661510 0.00006
NM_001017420.3(ESCO2):c.423G>C (p.Gln141His) rs147519828 0.00006
NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu) rs771745973 0.00006
NM_001127671.2(LIFR):c.1992G>A (p.Ser664=) rs142392717 0.00006
NM_002076.4(GNS):c.30G>A (p.Arg10=) rs753033310 0.00006
NM_006019.4(TCIRG1):c.1629C>T (p.Val543=) rs367732638 0.00006
NM_006019.4(TCIRG1):c.2119-4G>A rs554600980 0.00006
NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys) rs771198568 0.00006
NM_014140.4(SMARCAL1):c.1190del (p.Leu397fs) rs766291662 0.00006
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=) rs773940970 0.00006
NM_014140.4(SMARCAL1):c.1317T>G (p.Phe439Leu) rs771757954 0.00006
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His) rs529024384 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser) rs928775924 0.00006
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln) rs746283445 0.00006
NM_017777.4(MKS1):c.70T>C (p.Leu24=) rs538371478 0.00006
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923 0.00006
NM_024312.5(GNPTAB):c.1778A>T (p.Asn593Ile) rs188192351 0.00006
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val) rs374265672 0.00006
NM_024312.5(GNPTAB):c.2118C>T (p.Asp706=) rs766863289 0.00006
NM_024312.5(GNPTAB):c.2582G>A (p.Arg861Lys) rs139411012 0.00006
NM_024312.5(GNPTAB):c.933+7G>T rs757302795 0.00006
NM_032520.5(GNPTG):c.52+3G>C rs575933499 0.00006
NM_032520.5(GNPTG):c.548C>T (p.Ala183Val) rs759248626 0.00006
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu) rs137853826 0.00006
NM_033159.4(HYAL1):c.587G>A (p.Arg196His) rs782200654 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=) rs757526901 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_182760.4(SUMF1):c.192G>C (p.Ser64=) rs770050124 0.00006
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132 0.00006
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile) rs138643812 0.00005
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021 0.00005
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271 0.00005
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641 0.00005
NM_000135.4(FANCA):c.1007-7C>G rs111271660 0.00005
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile) rs774948790 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00005
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln) rs377442601 0.00005
NM_000135.4(FANCA):c.27C>T (p.Ser9=) rs540584108 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00005
NM_000135.4(FANCA):c.3349-3C>T rs373861415 0.00005
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00005
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) rs144171225 0.00005
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151 0.00005
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro) rs762721928 0.00005
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala) rs762079136 0.00005
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00005
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys) rs730881723 0.00005
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 0.00005
NM_000136.3(FANCC):c.897-8T>C rs878853673 0.00005
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198 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.450G>A (p.Pro150=) rs201892132 0.00005
NM_000202.8(IDS):c.717G>A (p.Gln239=) rs782087755 0.00005
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys) rs866224971 0.00005
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser) rs775641597 0.00005
NM_000203.5(IDUA):c.882C>T (p.Pro294=) rs762825338 0.00005
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro) rs762212949 0.00005
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His) rs775247526 0.00005
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00005
NM_001017420.3(ESCO2):c.1674-4T>C rs750703352 0.00005
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862 0.00005
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val) rs544925449 0.00005
NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val) rs994405607 0.00005
NM_002076.4(GNS):c.791C>T (p.Thr264Met) rs575544204 0.00005
NM_003659.4(AGPS):c.1437A>G (p.Gln479=) rs753932510 0.00005
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=) rs980211710 0.00005
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp) rs557931141 0.00005
NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser) rs369222109 0.00005
NM_006019.4(TCIRG1):c.1437C>T (p.Ala479=) rs201800548 0.00005
NM_006019.4(TCIRG1):c.2028C>T (p.Ala676=) rs370181947 0.00005
NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met) rs779910642 0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_006019.4(TCIRG1):c.763G>A (p.Gly255Arg) rs376201635 0.00005
NM_006019.4(TCIRG1):c.903C>T (p.Ala301=) rs773632286 0.00005
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=) rs367557310 0.00005
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val) rs578123335 0.00005
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=) rs149510554 0.00005
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp) rs776515230 0.00005
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00005
NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=) rs551905649 0.00005
NM_024312.5(GNPTAB):c.228C>T (p.Asp76=) rs540190619 0.00005
NM_024312.5(GNPTAB):c.3174A>G (p.Ser1058=) rs140872911 0.00005
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00005
NM_032520.5(GNPTG):c.289C>T (p.Arg97Cys) rs753385216 0.00005
NM_033159.4(HYAL1):c.150C>T (p.Asp50=) rs377272298 0.00005
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg) rs980989948 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996 0.00005
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111 0.00004
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451 0.00004
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868 0.00004
NM_000046.5(ARSB):c.105G>A (p.Pro35=) rs1423589060 0.00004
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531 0.00004
NM_000046.5(ARSB):c.975C>T (p.Gly325=) rs75766476 0.00004
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) rs1460026241 0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.1716-3C>T rs760855591 0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312 0.00004
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756 0.00004
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) rs142869950 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00004
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315 0.00004
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018 0.00004
NM_000135.4(FANCA):c.2982-8C>G rs781331325 0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=) rs367630825 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) rs764121307 0.00004
NM_000136.3(FANCC):c.*7C>T rs372511678 0.00004
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys) rs752855423 0.00004
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) rs375362894 0.00004
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582 0.00004
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154 0.00004
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306 0.00004
NM_000199.5(SGSH):c.89-10C>T rs766929408 0.00004
NM_000199.5(SGSH):c.909A>G (p.Lys303=) rs746617014 0.00004
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys) rs782634993 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.449C>T (p.Pro150Leu) rs1406337035 0.00004
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858 0.00004
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256 0.00004
NM_000203.5(IDUA):c.1482C>G (p.Val494=) rs999890083 0.00004
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu) rs776590488 0.00004
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466 0.00004
NM_000203.5(IDUA):c.590-7G>A rs762411583 0.00004
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala) rs1001972534 0.00004
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723 0.00004
NM_000263.4(NAGLU):c.383+7C>T rs768602711 0.00004
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666 0.00004
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932 0.00004
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn) rs1554331549 0.00004
NM_000396.4(CTSK):c.816T>A (p.Asp272Glu) rs190892496 0.00004
NM_000528.4(MAN2B1):c.1645-3G>A rs748206062 0.00004
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=) rs146778702 0.00004
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566 0.00004
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=) rs1406149211 0.00004
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys) rs370276057 0.00004
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr) rs747538432 0.00004
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=) rs762918325 0.00004
NM_001127671.2(LIFR):c.1080G>A (p.Ala360=) rs769294023 0.00004
NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys) rs373421600 0.00004
NM_001127671.2(LIFR):c.1974C>T (p.Val658=) rs762685098 0.00004
NM_001127671.2(LIFR):c.2217G>A (p.Ser739=) rs747295716 0.00004
NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=) rs745548189 0.00004
NM_002076.4(GNS):c.688G>A (p.Ala230Thr) rs140270805 0.00004
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys) rs888774422 0.00004
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) rs200039061 0.00004
NM_006019.4(TCIRG1):c.1009C>T (p.Arg337Trp) rs766765320 0.00004
NM_006019.4(TCIRG1):c.1146C>A (p.Arg382=) rs753324402 0.00004
NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile) rs763319140 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006019.4(TCIRG1):c.2119-9G>A rs761413420 0.00004
NM_006019.4(TCIRG1):c.2181C>T (p.Cys727=) rs201017845 0.00004
NM_006019.4(TCIRG1):c.2244C>T (p.Ser748=) rs759227930 0.00004
NM_006019.4(TCIRG1):c.964G>A (p.Ala322Thr) rs202161177 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_014140.4(SMARCAL1):c.1775C>T (p.Thr592Met) rs199876834 0.00004
NM_014140.4(SMARCAL1):c.2512G>A (p.Ala838Thr) rs369844668 0.00004
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 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.481+10C>T rs546078370 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_017777.4(MKS1):c.1273+6C>T rs371480628 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_024312.5(GNPTAB):c.1848G>A (p.Thr616=) rs376352491 0.00004
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00004
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr) rs376620571 0.00004
NM_024312.5(GNPTAB):c.2862T>C (p.Pro954=) rs780618202 0.00004
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00004
NM_032520.5(GNPTG):c.234-6C>T rs200003910 0.00004
NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp) rs775985395 0.00004
NM_032520.5(GNPTG):c.610-2A>G rs193302855 0.00004
NM_032520.5(GNPTG):c.642G>A (p.Glu214=) rs774108877 0.00004
NM_032520.5(GNPTG):c.665C>G (p.Pro222Arg) rs142548931 0.00004
NM_032520.5(GNPTG):c.696A>G (p.Gly232=) rs746160240 0.00004
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) rs368957453 0.00004
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser) rs587637619 0.00004
NM_033159.4(HYAL1):c.483T>C (p.Asp161=) rs368360137 0.00004
NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser) rs1346505806 0.00004
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe) rs369280586 0.00004
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg) rs553588867 0.00004
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=) rs772611068 0.00004
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile) rs374287774 0.00004
NM_153717.3(EVC):c.219G>A (p.Ala73=) rs759816860 0.00004
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598 0.00004
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_182760.4(SUMF1):c.626T>C (p.Val209Ala) rs150870957 0.00004
NM_000027.4(AGA):c.390G>C (p.Glu130Asp) rs770240412 0.00003
NM_000027.4(AGA):c.854C>T (p.Ala285Val) rs763018918 0.00003
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00003
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908 0.00003
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000112.4(SLC26A2):c.645T>C (p.Ser215=) rs1396953137 0.00003
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu) rs531100141 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val) rs748005916 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) rs761957732 0.00003
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) rs143083764 0.00003
NM_000135.4(FANCA):c.1543A>C (p.Lys515Gln) rs1355805026 0.00003
NM_000135.4(FANCA):c.1738G>A (p.Val580Met) rs769158149 0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769 0.00003
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) rs1060501885 0.00003
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283 0.00003
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283 0.00003
NM_000135.4(FANCA):c.2088C>T (p.Ser696=) rs150917432 0.00003
NM_000135.4(FANCA):c.2209G>A (p.Ala737Thr) rs539161141 0.00003
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355 0.00003
NM_000135.4(FANCA):c.2447C>T (p.Ala816Val) rs756082739 0.00003
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) rs1055448646 0.00003
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu) rs140412064 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His) rs752642945 0.00003
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656 0.00003
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00003
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser) rs370731587 0.00003
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu) rs748263867 0.00003
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582 0.00003
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) rs201492940 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000135.4(FANCA):c.361G>A (p.Val121Met) rs780035612 0.00003
NM_000135.4(FANCA):c.3627-8T>G rs77877981 0.00003
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr) rs925649874 0.00003
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) rs1254151716 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=) rs368985041 0.00003
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590 0.00003
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726 0.00003
NM_000136.3(FANCC):c.1014G>A (p.Lys338=) rs780776360 0.00003
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly) rs863224608 0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724 0.00003
NM_000136.3(FANCC):c.146A>G (p.Tyr49Cys) rs761845692 0.00003
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573 0.00003
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln) rs730881729 0.00003
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys) rs375921240 0.00003
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204 0.00003
NM_000136.3(FANCC):c.338G>C (p.Trp113Ser) rs1064793405 0.00003
NM_000136.3(FANCC):c.46A>T (p.Met16Leu) rs1390412870 0.00003
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00003
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln) rs755283850 0.00003
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln) rs889715188 0.00003
NM_000136.3(FANCC):c.830A>T (p.Lys277Ile) rs1349398241 0.00003
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) rs374915316 0.00003
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957 0.00003
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038 0.00003
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00003
NM_000202.8(IDS):c.1100C>T (p.Thr367Met) rs782588855 0.00003
NM_000202.8(IDS):c.1270G>A (p.Val424Ile) rs373820890 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_000202.8(IDS):c.894G>A (p.Gln298=) rs781812519 0.00003
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=) rs370257928 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.1776C>T (p.Tyr592=) rs372033248 0.00003
NM_000203.5(IDUA):c.1828+5G>A rs565649151 0.00003
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00003
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys) rs771733089 0.00003
NM_000203.5(IDUA):c.693C>T (p.Ser231=) rs529773032 0.00003
NM_000203.5(IDUA):c.793-1G>A rs762779421 0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621 0.00003
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00003
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) rs774971794 0.00003
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr) rs199919553 0.00003
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075 0.00003
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=) rs762375401 0.00003
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys) rs764543590 0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=) rs746514019 0.00003
NM_000528.4(MAN2B1):c.2355+6T>A rs1052970162 0.00003
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe) rs367852398 0.00003
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser) rs1466468362 0.00003
NM_001039958.2(MESP2):c.207G>T (p.Thr69=) rs571669966 0.00003
NM_001127671.2(LIFR):c.1221T>C (p.Asn407=) rs372077841 0.00003
NM_001127671.2(LIFR):c.15C>T (p.Tyr5=) rs778287994 0.00003
NM_001127671.2(LIFR):c.1965C>T (p.Cys655=) rs767618083 0.00003
NM_001127671.2(LIFR):c.2445A>G (p.Thr815=) rs570053542 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001127671.2(LIFR):c.774T>C (p.Asp258=) rs761633332 0.00003
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu) rs755021062 0.00003
NM_002076.4(GNS):c.1308+2T>C rs750645480 0.00003
NM_002076.4(GNS):c.676T>G (p.Phe226Val) rs1283873163 0.00003
NM_002076.4(GNS):c.77T>C (p.Leu26Pro) rs899951878 0.00003
NM_002076.4(GNS):c.793-9A>G rs780164582 0.00003
NM_003659.4(AGPS):c.1209C>T (p.Ala403=) rs761638262 0.00003
NM_003659.4(AGPS):c.870G>A (p.Gln290=) rs534985206 0.00003
NM_006019.4(TCIRG1):c.1144C>T (p.Arg382Cys) rs566684294 0.00003
NM_006019.4(TCIRG1):c.1488G>A (p.Thr496=) rs368168053 0.00003
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00003
NM_006019.4(TCIRG1):c.1843C>A (p.Leu615Ile) rs753897523 0.00003
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00003
NM_006019.4(TCIRG1):c.390C>T (p.Ala130=) rs750132812 0.00003
NM_006019.4(TCIRG1):c.726C>T (p.His242=) rs1054033489 0.00003
NM_014140.4(SMARCAL1):c.1069T>A (p.Phe357Ile) rs369180164 0.00003
NM_014140.4(SMARCAL1):c.1297G>A (p.Val433Met) rs374696042 0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148 0.00003
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln) rs372298863 0.00003
NM_014140.4(SMARCAL1):c.426G>A (p.Glu142=) rs767158204 0.00003
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=) rs140707035 0.00003
NM_017777.4(MKS1):c.1024+10A>G rs749001732 0.00003
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 0.00003
NM_017777.4(MKS1):c.1260G>A (p.Leu420=) rs749099410 0.00003
NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp) rs766392300 0.00003
NM_017777.4(MKS1):c.1534G>A (p.Val512Met) rs370130538 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017777.4(MKS1):c.314A>C (p.Tyr105Ser) rs1440792737 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_017777.4(MKS1):c.821C>T (p.Pro274Leu) rs770088105 0.00003
NM_017777.4(MKS1):c.835C>T (p.Arg279Trp) rs189255737 0.00003
NM_017777.4(MKS1):c.904G>A (p.Asp302Asn) rs750025608 0.00003
NM_024312.5(GNPTAB):c.1030C>T (p.Arg344Trp) rs1480305030 0.00003
NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln) rs745438711 0.00003
NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=) rs757765886 0.00003
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764 0.00003
NM_024312.5(GNPTAB):c.1801A>G (p.Ile601Val) rs1406478775 0.00003
NM_024312.5(GNPTAB):c.1875C>A (p.Phe625Leu) rs137853823 0.00003
NM_024312.5(GNPTAB):c.1929T>G (p.Ser643=) rs199921889 0.00003
NM_024312.5(GNPTAB):c.3591G>A (p.Glu1197=) rs750709036 0.00003
NM_024312.5(GNPTAB):c.534C>G (p.Thr178=) rs777525816 0.00003
NM_024312.5(GNPTAB):c.772T>C (p.Leu258=) rs1042427154 0.00003
NM_032520.5(GNPTG):c.166T>A (p.Ser56Thr) rs889922749 0.00003
NM_032520.5(GNPTG):c.233C>T (p.Thr78Met) rs200507633 0.00003
NM_032520.5(GNPTG):c.254C>T (p.Pro85Leu) rs747362604 0.00003
NM_032520.5(GNPTG):c.366G>C (p.Trp122Cys) rs757394606 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.532C>T (p.Pro178Ser) rs553046300 0.00003
NM_032520.5(GNPTG):c.609+10C>T rs544780390 0.00003
NM_032520.5(GNPTG):c.631A>T (p.Thr211Ser) rs112925416 0.00003
NM_032520.5(GNPTG):c.660G>A (p.Lys220=) rs764405882 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_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu) rs746875137 0.00003
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=) rs752466254 0.00003
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg) rs368082613 0.00003
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala) rs201952563 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=) rs1483799016 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_182760.4(SUMF1):c.602+1G>A rs143616931 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_000027.4(AGA):c.987G>C (p.Met329Ile) rs774051527 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121 0.00002
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863 0.00002
NM_000112.4(SLC26A2):c.740A>G (p.Tyr247Cys) rs768745973 0.00002
NM_000135.4(FANCA):c.1006+4G>C rs201771215 0.00002
NM_000135.4(FANCA):c.1007-3C>T rs557382436 0.00002
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn) rs764286584 0.00002
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe) rs982286482 0.00002
NM_000135.4(FANCA):c.1231G>A (p.Val411Met) rs924067529 0.00002
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys) rs780135578 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val) rs144234991 0.00002
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000135.4(FANCA):c.1558G>C (p.Asp520His) rs754123446 0.00002
NM_000135.4(FANCA):c.1566+6C>G rs886939126 0.00002
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) rs753229112 0.00002
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile) rs778754162 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.1781C>A (p.Pro594His) rs780295697 0.00002
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser) rs766939940 0.00002
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu) rs938278864 0.00002
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val) rs199599499 0.00002
NM_000135.4(FANCA):c.1969C>T (p.Leu657=) rs889618840 0.00002
NM_000135.4(FANCA):c.2109G>C (p.Gln703His) rs371458363 0.00002
NM_000135.4(FANCA):c.2239G>T (p.Ala747Ser) rs931143821 0.00002
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly) rs767455904 0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.2833G>A (p.Ala945Thr) rs757996952 0.00002
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883 0.00002
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982 0.00002
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser) rs773260958 0.00002
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807 0.00002
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171 0.00002
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) rs1419279017 0.00002
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro) rs977982480 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly) rs760330357 0.00002
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln) rs770622823 0.00002
NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala) rs373998809 0.00002
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu) rs143570168 0.00002
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala) rs753944130 0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206 0.00002
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.596+4G>A rs780355864 0.00002
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) rs145869646 0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000135.4(FANCA):c.88G>A (p.Val30Ile) rs1160471115 0.00002
NM_000135.4(FANCA):c.910G>C (p.Gly304Arg) rs775212719 0.00002
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377 0.00002
NM_000136.3(FANCC):c.1024C>G (p.Pro342Ala) rs863224606 0.00002
NM_000136.3(FANCC):c.1085G>T (p.Gly362Val) rs1246894660 0.00002
NM_000136.3(FANCC):c.1144C>G (p.Gln382Glu) rs778968824 0.00002
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg) rs1064793837 0.00002
NM_000136.3(FANCC):c.1248C>T (p.Ala416=) rs747051975 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.349G>A (p.Val117Ile) rs781167993 0.00002
NM_000136.3(FANCC):c.473C>T (p.Ala158Val) rs776429990 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.598G>C (p.Val200Leu) rs772996041 0.00002
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890 0.00002
NM_000136.3(FANCC):c.654G>A (p.Glu218=) rs754705988 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro) rs1060502515 0.00002
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly) rs111657009 0.00002
NM_000136.3(FANCC):c.826A>G (p.Ile276Val) rs377085045 0.00002
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998 0.00002
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu) rs150222010 0.00002
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023 0.00002
NM_000199.5(SGSH):c.1371T>C (p.Phe457=) rs867660906 0.00002
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000199.5(SGSH):c.384G>A (p.Pro128=) rs770944273 0.00002
NM_000199.5(SGSH):c.523G>A (p.Val175Ile) rs753921560 0.00002
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.1642T>C (p.Leu548=) rs1557337560 0.00002
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763 0.00002
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882 0.00002
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00002
NM_000203.5(IDUA):c.1224C>T (p.Ala408=) rs774488302 0.00002
NM_000203.5(IDUA):c.1247A>C (p.His416Pro) rs1419725967 0.00002
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu) rs794727017 0.00002
NM_000203.5(IDUA):c.1829-1G>A rs745915863 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234 0.00002
NM_000203.5(IDUA):c.42G>C (p.Leu14=) rs1021970063 0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000203.5(IDUA):c.793-5C>T rs773072991 0.00002
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) rs750401625 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_000288.4(PEX7):c.629A>G (p.Asn210Ser) rs753193218 0.00002
NM_000396.4(CTSK):c.30T>G (p.Pro10=) rs139004720 0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 0.00002
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=) rs754672974 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_001017420.3(ESCO2):c.684G>A (p.Pro228=) rs146523589 0.00002
NM_001039958.2(MESP2):c.170C>G (p.Pro57Arg) rs1257896833 0.00002
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00002
NM_001127671.2(LIFR):c.2529A>G (p.Pro843=) rs779533679 0.00002
NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr) rs770022153 0.00002
NM_001127671.2(LIFR):c.552C>T (p.Leu184=) rs370454146 0.00002
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser) rs771940326 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
NM_002076.4(GNS):c.850T>C (p.Phe284Leu) rs978501400 0.00002
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_006019.4(TCIRG1):c.1663T>C (p.Phe555Leu) rs779779379 0.00002
NM_006019.4(TCIRG1):c.1875C>G (p.Leu625=) rs758830999 0.00002
NM_006019.4(TCIRG1):c.1996A>C (p.Arg666=) rs767714758 0.00002
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val) rs377034463 0.00002
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186 0.00002
NM_014140.4(SMARCAL1):c.1552C>T (p.Arg518Cys) rs763864983 0.00002
NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val) rs781453232 0.00002
NM_014140.4(SMARCAL1):c.1993G>T (p.Ala665Ser) rs768868466 0.00002
NM_014140.4(SMARCAL1):c.2002C>T (p.Arg668Trp) rs189863563 0.00002
NM_014140.4(SMARCAL1):c.2141T>C (p.Ile714Thr) rs372158077 0.00002
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn) rs528033845 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014140.4(SMARCAL1):c.2644_2646del (p.Ile882del) rs1315596315 0.00002
NM_014140.4(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564 0.00002
NM_014140.4(SMARCAL1):c.488C>A (p.Thr163Asn) rs748188404 0.00002
NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val) rs751712707 0.00002
NM_017777.4(MKS1):c.1233T>C (p.Arg411=) rs201128765 0.00002
NM_017777.4(MKS1):c.1477C>A (p.Leu493Met) rs761944624 0.00002
NM_017777.4(MKS1):c.32G>C (p.Gly11Ala) rs375223375 0.00002
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00002
NM_017777.4(MKS1):c.428G>T (p.Arg143Ile) rs758424317 0.00002
NM_024312.5(GNPTAB):c.1317C>T (p.Ala439=) rs781704040 0.00002
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274 0.00002
NM_024312.5(GNPTAB):c.2164G>C (p.Asp722His) rs146460663 0.00002
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025 0.00002
NM_024312.5(GNPTAB):c.793A>G (p.Ser265Gly) rs779150416 0.00002
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526 0.00002
NM_032520.5(GNPTG):c.204G>A (p.Ser68=) rs777517766 0.00002
NM_032520.5(GNPTG):c.263A>G (p.Asn88Ser) rs775604993 0.00002
NM_032520.5(GNPTG):c.440G>A (p.Arg147Gln) rs374890181 0.00002
NM_032520.5(GNPTG):c.53-2A>G rs779597308 0.00002
NM_032520.5(GNPTG):c.591T>G (p.Asp197Glu) rs927888758 0.00002
NM_032520.5(GNPTG):c.901C>T (p.Leu301=) rs754236475 0.00002
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=) rs782279681 0.00002
NM_033159.4(HYAL1):c.915C>T (p.His305=) rs1290078379 0.00002
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=) rs772729729 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1614-10C>T rs755029430 0.00002
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met) rs377050184 0.00002
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=) rs367648422 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp) rs774990357 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu) rs752083773 0.00002
NM_000027.4(AGA):c.1030G>C (p.Asp344His) rs776865078 0.00001
NM_000027.4(AGA):c.177C>T (p.Ser59=) rs757480668 0.00001
NM_000027.4(AGA):c.28C>G (p.Leu10Val) rs753394137 0.00001
NM_000027.4(AGA):c.508-2A>G rs986682657 0.00001
NM_000027.4(AGA):c.776A>G (p.Asn259Ser) rs1306999394 0.00001
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564 0.00001
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln) rs148067062 0.00001
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly) rs745885140 0.00001
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp) rs758641798 0.00001
NM_000046.5(ARSB):c.178G>A (p.Val60Ile) rs1438070050 0.00001
NM_000046.5(ARSB):c.196C>T (p.Arg66Cys) rs951682570 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.666C>T (p.Leu222=) rs1752122294 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_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239 0.00001
NM_000112.4(SLC26A2):c.1057C>T (p.His353Tyr) rs758078719 0.00001
NM_000112.4(SLC26A2):c.1427A>G (p.Tyr476Cys) rs145765282 0.00001
NM_000112.4(SLC26A2):c.145del (p.Arg49fs) rs1265764649 0.00001
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484 0.00001
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397 0.00001
NM_000112.4(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029 0.00001
NM_000112.4(SLC26A2):c.21G>A (p.Glu7=) rs768964077 0.00001
NM_000112.4(SLC26A2):c.502C>T (p.Leu168=) rs745566850 0.00001
NM_000112.4(SLC26A2):c.533G>A (p.Arg178Gln) rs747117439 0.00001
NM_000112.4(SLC26A2):c.709G>A (p.Gly237Ser) rs758186195 0.00001
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val) rs746734591 0.00001
NM_000112.4(SLC26A2):c.858C>T (p.Leu286=) rs748677654 0.00001
NM_000112.4(SLC26A2):c.892C>A (p.His298Asn) rs1025069199 0.00001
NM_000112.4(SLC26A2):c.996G>A (p.Pro332=) rs376300575 0.00001
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys) rs374835951 0.00001
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val) rs748337423 0.00001
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys) rs375895456 0.00001
NM_000135.4(FANCA):c.107A>G (p.Asn36Ser) rs1210459454 0.00001
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala) rs774319222 0.00001
NM_000135.4(FANCA):c.1145A>G (p.Gln382Arg) rs747766198 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr) rs912838333 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val) rs772567344 0.00001
NM_000135.4(FANCA):c.1297G>A (p.Val433Ile) rs753987812 0.00001
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys) rs142990858 0.00001
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn) rs1262122499 0.00001
NM_000135.4(FANCA):c.1359+5G>C rs183569738 0.00001
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg) rs565303230 0.00001
NM_000135.4(FANCA):c.1404G>C (p.Lys468Asn) rs755713516 0.00001
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val) rs2039846606 0.00001
NM_000135.4(FANCA):c.1460G>A (p.Arg487Gln) rs377637236 0.00001
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys) rs748907151 0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=) rs139276494 0.00001
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn) rs754123446 0.00001
NM_000135.4(FANCA):c.160C>T (p.His54Tyr) rs1383572316 0.00001
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile) rs200922390 0.00001
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) rs779745863 0.00001
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171 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.1798C>T (p.Arg600Cys) rs765036744 0.00001
NM_000135.4(FANCA):c.1803G>A (p.Val601=) rs757053400 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly) rs151232042 0.00001
NM_000135.4(FANCA):c.1902T>G (p.Asp634Glu) rs187300458 0.00001
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr) rs1293899212 0.00001
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683 0.00001
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) rs1306842168 0.00001
NM_000135.4(FANCA):c.1986C>A (p.Ala662=) rs568935135 0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719 0.00001
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00001
NM_000135.4(FANCA):c.2018T>C (p.Ile673Thr) rs1319264119 0.00001
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093 0.00001
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg) rs55692229 0.00001
NM_000135.4(FANCA):c.2111T>A (p.Leu704His) rs1239942003 0.00001
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala) rs746373917 0.00001
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln) rs1054636249 0.00001
NM_000135.4(FANCA):c.2147A>G (p.His716Arg) rs751474452 0.00001
NM_000135.4(FANCA):c.2149A>G (p.Met717Val) rs766173155 0.00001
NM_000135.4(FANCA):c.2152-10G>C rs557705265 0.00001
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598 0.00001
NM_000135.4(FANCA):c.2305C>G (p.Leu769Val) rs917707717 0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=) rs765883419 0.00001
NM_000135.4(FANCA):c.2407G>A (p.Val803Met) rs769083458 0.00001
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu) rs1352100383 0.00001
NM_000135.4(FANCA):c.2429C>G (p.Ala810Gly) rs1486995764 0.00001
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989 0.00001
NM_000135.4(FANCA):c.2456A>T (p.Asp819Val) rs976586387 0.00001
NM_000135.4(FANCA):c.2530T>C (p.Ser844Pro) rs1017352035 0.00001
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484 0.00001
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362 0.00001
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly) rs758619078 0.00001
NM_000135.4(FANCA):c.2618T>G (p.Phe873Cys) rs756314107 0.00001
NM_000135.4(FANCA):c.2651C>G (p.Ser884Cys) rs776492214 0.00001
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr) rs748454613 0.00001
NM_000135.4(FANCA):c.2779-9C>G rs764825402 0.00001
NM_000135.4(FANCA):c.2800C>A (p.His934Asn) rs774871582 0.00001
NM_000135.4(FANCA):c.2874G>A (p.Ala958=) rs199916178 0.00001
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871 0.00001
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr) rs752735858 0.00001
NM_000135.4(FANCA):c.2974C>T (p.His992Tyr) rs967438026 0.00001
NM_000135.4(FANCA):c.2975A>T (p.His992Leu) rs184007986 0.00001
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) rs35402142 0.00001
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr) rs747913731 0.00001
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala) rs954683462 0.00001
NM_000135.4(FANCA):c.3173C>T (p.Ala1058Val) rs370873098 0.00001
NM_000135.4(FANCA):c.3179C>G (p.Thr1060Arg) rs766358053 0.00001
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met) rs140124051 0.00001
NM_000135.4(FANCA):c.3215A>G (p.Gln1072Arg) rs1013239803 0.00001
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys) rs764206631 0.00001
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly) rs2038476999 0.00001
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=) rs762719233 0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) rs772828870 0.00001
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly) rs1057520051 0.00001
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr) rs1162813981 0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346 0.00001
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109 0.00001
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu) rs149903404 0.00001
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) rs146062039 0.00001
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282 0.00001
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=) rs768306527 0.00001
NM_000135.4(FANCA):c.353C>T (p.Ala118Val) rs1201642328 0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) rs748713183 0.00001
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143 0.00001
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn) rs1351484293 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser) rs773150877 0.00001
NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val) rs576401459 0.00001
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) rs751899346 0.00001
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) rs202107465 0.00001
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu) rs777313447 0.00001
NM_000135.4(FANCA):c.375C>T (p.Cys125=) rs199793463 0.00001
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val) rs759514393 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131 0.00001
NM_000135.4(FANCA):c.39G>C (p.Gln13His) rs1486155993 0.00001
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe) rs112734327 0.00001
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586 0.00001
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882 0.00001
NM_000135.4(FANCA):c.4167+4G>A rs370080063 0.00001
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met) rs1441175300 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=) rs371228419 0.00001
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly) rs770716257 0.00001
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu) rs908258968 0.00001
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) rs747651383 0.00001
NM_000135.4(FANCA):c.488G>A (p.Arg163His) rs375648811 0.00001
NM_000135.4(FANCA):c.499T>C (p.Cys167Arg) rs1449541412 0.00001
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp) rs1300733063 0.00001
NM_000135.4(FANCA):c.571G>T (p.Val191Leu) rs1429483489 0.00001
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164 0.00001
NM_000135.4(FANCA):c.596+5C>T rs758345423 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn) rs779131886 0.00001
NM_000135.4(FANCA):c.69C>T (p.Ala23=) rs746429608 0.00001
NM_000135.4(FANCA):c.700A>G (p.Met234Val) rs1042676101 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.7G>C (p.Asp3His) rs1246636933 0.00001
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr) rs1010833101 0.00001
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317 0.00001
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) rs1060501877 0.00001
NM_000135.4(FANCA):c.90C>G (p.Val30=) rs532713581 0.00001
NM_000135.4(FANCA):c.911G>C (p.Gly304Ala) rs745451374 0.00001
NM_000135.4(FANCA):c.913C>T (p.His305Tyr) rs774054025 0.00001
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr) rs770984577 0.00001
NM_000135.4(FANCA):c.982C>G (p.Leu328Val) rs779244841 0.00001
NM_000136.3(FANCC):c.-2A>G rs773045474 0.00001
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln) rs377468919 0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser) rs143212932 0.00001
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) rs1588070592 0.00001
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071 0.00001
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp) rs768508859 0.00001
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg) rs771694972 0.00001
NM_000136.3(FANCC):c.1107G>A (p.Lys369=) rs1321399501 0.00001
NM_000136.3(FANCC):c.112G>A (p.Val38Met) rs778951584 0.00001
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys) rs369684405 0.00001
NM_000136.3(FANCC):c.1298G>A (p.Arg433His) rs768676102 0.00001
NM_000136.3(FANCC):c.1305G>C (p.Gly435=) rs765092951 0.00001
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg) rs912537449 0.00001
NM_000136.3(FANCC):c.1327A>G (p.Met443Val) rs150941781 0.00001
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile) rs863224609 0.00001
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr) rs780179187 0.00001
NM_000136.3(FANCC):c.1524C>T (p.Val508=) rs765766432 0.00001
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352 0.00001
NM_000136.3(FANCC):c.1540C>T (p.His514Tyr) rs749319183 0.00001
NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala) rs781445050 0.00001
NM_000136.3(FANCC):c.1567A>G (p.Ile523Val) rs1235875394 0.00001
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr) rs1554827151 0.00001
NM_000136.3(FANCC):c.160G>A (p.Glu54Lys) rs1564794487 0.00001
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu) rs1554827120 0.00001
NM_000136.3(FANCC):c.1664G>A (p.Arg555Gln) rs369636116 0.00001
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile) rs149566909 0.00001
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr) rs4647419 0.00001
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln) rs1060502519 0.00001
NM_000136.3(FANCC):c.271A>G (p.Ile91Val) rs771619614 0.00001
NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr) rs774029807 0.00001
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro) rs777731560 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454 0.00001
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00001
NM_000136.3(FANCC):c.46A>G (p.Met16Val) rs1390412870 0.00001
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro) rs372338418 0.00001
NM_000136.3(FANCC):c.476C>T (p.Ser159Phe) rs1588218581 0.00001
NM_000136.3(FANCC):c.501T>C (p.Asn167=) rs1057520284 0.00001
NM_000136.3(FANCC):c.521+5G>C rs1301899973 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.542C>T (p.Ala181Val) rs182879858 0.00001
NM_000136.3(FANCC):c.543G>A (p.Ala181=) rs758919360 0.00001
NM_000136.3(FANCC):c.551C>T (p.Ser184Leu) rs746367952 0.00001
NM_000136.3(FANCC):c.571A>C (p.Ile191Leu) rs752429169 0.00001
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys) rs373270404 0.00001
NM_000136.3(FANCC):c.635A>G (p.Gln212Arg) rs1445499474 0.00001
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu) rs730881714 0.00001
NM_000136.3(FANCC):c.656T>A (p.Phe219Tyr) rs1588181383 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.679A>G (p.Ile227Val) rs864622550 0.00001
NM_000136.3(FANCC):c.706A>G (p.Met236Val) rs771319430 0.00001
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717 0.00001
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu) rs745621828 0.00001
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln) rs747060782 0.00001
NM_000136.3(FANCC):c.882T>C (p.Val294=) rs750639831 0.00001
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro) rs1415268424 0.00001
NM_000136.3(FANCC):c.943A>G (p.Ile315Val) rs587779910 0.00001
NM_000136.3(FANCC):c.996+6T>C rs200934877 0.00001
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His) rs766657191 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 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.1455C>T (p.Gly485=) rs757563981 0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868 0.00001
NM_000199.5(SGSH):c.355+9C>T rs746912493 0.00001
NM_000199.5(SGSH):c.356-6G>A rs764808311 0.00001
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg) rs1408975480 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659 0.00001
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser) rs756437160 0.00001
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile) rs774439487 0.00001
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466 0.00001
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878 0.00001
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788 0.00001
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300 0.00001
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr) rs782475200 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_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179 0.00001
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr) rs772855552 0.00001
NM_000203.5(IDUA):c.1056C>T (p.Phe352=) rs776110061 0.00001
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu) rs1038727823 0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360 0.00001
NM_000203.5(IDUA):c.1168A>G (p.Met390Val) rs1455637147 0.00001
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273 0.00001
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro) rs1392555572 0.00001
NM_000203.5(IDUA):c.1398C>T (p.Gly466=) rs1370338557 0.00001
NM_000203.5(IDUA):c.1403-11A>G rs1335436961 0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027 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.1536C>T (p.Ala512=) rs1392263774 0.00001
NM_000203.5(IDUA):c.162C>A (p.Pro54=) rs1378930636 0.00001
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys) rs1257968688 0.00001
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu) rs146588560 0.00001
NM_000203.5(IDUA):c.1728-1G>C rs1249951282 0.00001
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile) rs200089576 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp) rs751792135 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 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.299+10G>A rs775172497 0.00001
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.534G>A (p.Glu178=) rs762533612 0.00001
NM_000203.5(IDUA):c.557A>G (p.His186Arg) rs758439259 0.00001
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp) rs1178237301 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu) rs745879759 0.00001
NM_000203.5(IDUA):c.719A>G (p.His240Arg) rs1297784711 0.00001
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser) rs775731864 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly) rs1001962975 0.00001
NM_000203.5(IDUA):c.784C>T (p.His262Tyr) rs375305122 0.00001
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp) rs1426919426 0.00001
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209 0.00001
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030 0.00001
NM_000203.5(IDUA):c.972+8G>A rs774327124 0.00001
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995 0.00001
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453 0.00001
NM_000263.4(NAGLU):c.135G>C (p.Ala45=) rs2092906139 0.00001
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=) rs752918057 0.00001
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln) rs868244206 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 0.00001
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789 0.00001
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met) rs1300652650 0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe) rs764446533 0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852 0.00001
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu) rs753670246 0.00001
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr) rs146582131 0.00001
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala) rs2092906625 0.00001
NM_000263.4(NAGLU):c.384-1G>A rs764134891 0.00001
NM_000263.4(NAGLU):c.408C>T (p.Cys136=) rs750741772 0.00001
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val) rs1344891508 0.00001
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601 0.00001
NM_000263.4(NAGLU):c.753G>A (p.Glu251=) rs367604063 0.00001
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480 0.00001
NM_000288.4(PEX7):c.115C>A (p.His39Asn) rs1316023843 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.130+1G>A rs267608253 0.00001
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.244G>A (p.Val82Ile) rs770777194 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.297A>G (p.Lys99=) rs766858149 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 0.00001
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg) rs762113236 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.681C>T (p.Asp227=) rs1236779327 0.00001
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) rs759158962 0.00001
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 0.00001
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) rs988988279 0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu) rs202055627 0.00001
NM_000528.4(MAN2B1):c.1109+10G>A rs779635675 0.00001
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His) rs563097824 0.00001
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp) rs2023965888 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=) rs547133035 0.00001
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys) rs199700264 0.00001
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=) rs750890285 0.00001
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys) rs772742355 0.00001
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg) rs760097655 0.00001
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=) rs545541738 0.00001
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu) rs1170799731 0.00001
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val) rs751849414 0.00001
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683 0.00001
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=) rs1318861970 0.00001
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=) rs1175779934 0.00001
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys) rs765088432 0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930 0.00001
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His) rs1408334891 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn) rs973412688 0.00001
NM_000528.4(MAN2B1):c.906C>T (p.Ala302=) rs749372996 0.00001
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile) rs1471471874 0.00001
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=) rs554005632 0.00001
NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=) rs1451610987 0.00001
NM_001017420.3(ESCO2):c.1674-9_1674-7del rs778526413 0.00001
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=) rs1585413228 0.00001
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) rs80359849 0.00001
NM_001017420.3(ESCO2):c.603A>G (p.Pro201=) rs774506097 0.00001
NM_001017420.3(ESCO2):c.666G>A (p.Ser222=) rs201608468 0.00001
NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile) rs897825817 0.00001
NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln) rs767444182 0.00001
NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr) rs1319032121 0.00001
NM_001039958.2(MESP2):c.320T>C (p.Phe107Ser) rs1968368157 0.00001
NM_001039958.2(MESP2):c.637G>A (p.Ala213Thr) rs781296717 0.00001
NM_001039958.2(MESP2):c.669G>C (p.Pro223=) rs760409825 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_001127671.2(LIFR):c.183A>C (p.Gln61His) rs1243202901 0.00001
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381 0.00001
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368 0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883 0.00001
NM_001127671.2(LIFR):c.96A>G (p.Thr32=) rs771905123 0.00001
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser) rs756633427 0.00001
NM_002076.4(GNS):c.1262G>A (p.Arg421His) rs774084161 0.00001
NM_002076.4(GNS):c.1452C>T (p.Asp484=) rs1252524521 0.00001
NM_002076.4(GNS):c.1578C>T (p.Pro526=) rs753472052 0.00001
NM_002076.4(GNS):c.160A>G (p.Thr54Ala) rs768291103 0.00001
NM_002076.4(GNS):c.682A>G (p.Met228Val) rs1338194520 0.00001
NM_002076.4(GNS):c.698C>T (p.Ala233Val) rs766044815 0.00001
NM_003659.4(AGPS):c.1135A>G (p.Ile379Val) rs867493363 0.00001
NM_003659.4(AGPS):c.141C>A (p.Gly47=) rs1345248171 0.00001
NM_003659.4(AGPS):c.14C>T (p.Ala5Val) rs1233318758 0.00001
NM_003659.4(AGPS):c.1713C>T (p.Tyr571=) rs773126499 0.00001
NM_003659.4(AGPS):c.186A>G (p.Arg62=) rs990214554 0.00001
NM_003659.4(AGPS):c.200C>T (p.Ala67Val) rs1454806934 0.00001
NM_003659.4(AGPS):c.354C>T (p.Tyr118=) rs200594024 0.00001
NM_003659.4(AGPS):c.57C>T (p.Tyr19=) rs1346009699 0.00001
NM_006019.4(TCIRG1):c.1080A>G (p.Thr360=) rs767700786 0.00001
NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His) rs755474518 0.00001
NM_006019.4(TCIRG1):c.1119C>T (p.Gly373=) rs759279602 0.00001
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984 0.00001
NM_006019.4(TCIRG1):c.1305+10G>A rs1405179710 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1402G>A (p.Ala468Thr) rs774244420 0.00001
NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile) rs755559179 0.00001
NM_006019.4(TCIRG1):c.1528G>A (p.Gly510Arg) rs868702370 0.00001
NM_006019.4(TCIRG1):c.1587C>A (p.Phe529Leu) rs376351835 0.00001
NM_006019.4(TCIRG1):c.1674-8C>T rs754864356 0.00001
NM_006019.4(TCIRG1):c.1693C>T (p.Arg565Trp) rs890729823 0.00001
NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp) rs563996115 0.00001
NM_006019.4(TCIRG1):c.1718A>G (p.Glu573Gly) rs576389893 0.00001
NM_006019.4(TCIRG1):c.1825C>T (p.His609Tyr) rs751612634 0.00001
NM_006019.4(TCIRG1):c.2049C>T (p.Asp683=) rs780969471 0.00001
NM_006019.4(TCIRG1):c.2115C>T (p.Ala705=) rs769840926 0.00001
NM_006019.4(TCIRG1):c.2118+10G>A rs775491643 0.00001
NM_006019.4(TCIRG1):c.2122G>A (p.Val708Ile) rs573002924 0.00001
NM_006019.4(TCIRG1):c.2232C>T (p.His744=) rs774906865 0.00001
NM_006019.4(TCIRG1):c.2301C>T (p.Gly767=) rs768701072 0.00001
NM_006019.4(TCIRG1):c.2358T>A (p.Ala786=) rs776554801 0.00001
NM_006019.4(TCIRG1):c.2443G>A (p.Gly815Ser) rs1308533755 0.00001
NM_006019.4(TCIRG1):c.2486A>G (p.Asp829Gly) rs147175413 0.00001
NM_006019.4(TCIRG1):c.249G>A (p.Lys83=) rs367708208 0.00001
NM_006019.4(TCIRG1):c.260C>T (p.Pro87Leu) rs982462013 0.00001
NM_006019.4(TCIRG1):c.394C>T (p.Leu132=) rs1410683808 0.00001
NM_006019.4(TCIRG1):c.417+10C>T rs1224261645 0.00001
NM_006019.4(TCIRG1):c.426C>T (p.Ala142=) rs1006980323 0.00001
NM_006019.4(TCIRG1):c.550C>T (p.Arg184Cys) rs1375468915 0.00001
NM_006019.4(TCIRG1):c.764G>A (p.Gly255Glu) rs1379501520 0.00001
NM_006019.4(TCIRG1):c.776A>T (p.Gln259Leu) rs1229696229 0.00001
NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr) rs773402451 0.00001
NM_014140.4(SMARCAL1):c.1031A>G (p.Glu344Gly) rs745997031 0.00001
NM_014140.4(SMARCAL1):c.109A>G (p.Ser37Gly) rs2106014375 0.00001
NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs) rs956223874 0.00001
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268 0.00001
NM_014140.4(SMARCAL1):c.1553G>A (p.Arg518His) rs774075396 0.00001
NM_014140.4(SMARCAL1):c.1699C>A (p.Pro567Thr) rs765026783 0.00001
NM_014140.4(SMARCAL1):c.1762G>T (p.Ala588Ser) rs769553029 0.00001
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys) rs148893764 0.00001
NM_014140.4(SMARCAL1):c.1985T>C (p.Val662Ala) rs749447889 0.00001
NM_014140.4(SMARCAL1):c.2245-10G>T rs759266842 0.00001
NM_014140.4(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517 0.00001
NM_014140.4(SMARCAL1):c.2356G>A (p.Ala786Thr) rs763369356 0.00001
NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu) rs1346269253 0.00001
NM_014140.4(SMARCAL1):c.2497G>A (p.Val833Met) rs756015461 0.00001
NM_014140.4(SMARCAL1):c.2556T>C (p.Val852=) rs1574485907 0.00001
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=) rs763888223 0.00001
NM_014140.4(SMARCAL1):c.2600C>T (p.Thr867Ile) rs752153044 0.00001
NM_014140.4(SMARCAL1):c.2650G>A (p.Asp884Asn) rs763712548 0.00001
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=) rs755396021 0.00001
NM_014140.4(SMARCAL1):c.2837A>C (p.Asn946Thr) rs1457757664 0.00001
NM_014140.4(SMARCAL1):c.2853G>A (p.Thr951=) rs200632025 0.00001
NM_014140.4(SMARCAL1):c.382C>G (p.Gln128Glu) rs762590281 0.00001
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His) rs774029345 0.00001
NM_014140.4(SMARCAL1):c.553C>T (p.Pro185Ser) rs1265303129 0.00001
NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=) rs751534116 0.00001
NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys) rs753690688 0.00001
NM_014140.4(SMARCAL1):c.68G>A (p.Arg23His) rs866396456 0.00001
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile) rs375140716 0.00001
NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=) rs199805770 0.00001
NM_014140.4(SMARCAL1):c.776T>C (p.Ile259Thr) rs750671325 0.00001
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=) rs1288231534 0.00001
NM_014140.4(SMARCAL1):c.782T>A (p.Val261Glu) rs754882213 0.00001
NM_014140.4(SMARCAL1):c.827C>T (p.Thr276Met) rs558788774 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.222T>C (p.Ile74=) rs759497648 0.00001
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_017777.4(MKS1):c.1007T>C (p.Val336Ala) rs772205041 0.00001
NM_017777.4(MKS1):c.101C>T (p.Thr34Ile) rs759465861 0.00001
NM_017777.4(MKS1):c.1055C>T (p.Ser352Leu) rs1293609717 0.00001
NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro) rs769389013 0.00001
NM_017777.4(MKS1):c.1127C>T (p.Thr376Met) rs200350173 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 0.00001
NM_017777.4(MKS1):c.1408-5C>T rs1237002420 0.00001
NM_017777.4(MKS1):c.1424G>A (p.Arg475His) rs200026560 0.00001
NM_017777.4(MKS1):c.1507A>G (p.Ser503Gly) rs1328968692 0.00001
NM_017777.4(MKS1):c.1529G>A (p.Arg510Gln) rs373843986 0.00001
NM_017777.4(MKS1):c.1538T>C (p.Leu513Ser) rs1968503638 0.00001
NM_017777.4(MKS1):c.1589-3C>T rs752901746 0.00001
NM_017777.4(MKS1):c.1627C>T (p.Arg543Trp) rs748406509 0.00001
NM_017777.4(MKS1):c.1657C>T (p.Pro553Ser) rs915370426 0.00001
NM_017777.4(MKS1):c.200G>A (p.Arg67His) rs780293222 0.00001
NM_017777.4(MKS1):c.229G>A (p.Val77Met) rs1198645467 0.00001
NM_017777.4(MKS1):c.371G>A (p.Arg124Gln) rs765026950 0.00001
NM_017777.4(MKS1):c.586G>A (p.Val196Ile) rs140677541 0.00001
NM_017777.4(MKS1):c.634C>A (p.Pro212Thr) rs747659750 0.00001
NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys) rs754689401 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_017777.4(MKS1):c.81-3C>A rs1204016081 0.00001
NM_017777.4(MKS1):c.836G>A (p.Arg279Gln) rs747504986 0.00001
NM_017777.4(MKS1):c.842G>C (p.Arg281Pro) rs794727927 0.00001
NM_017777.4(MKS1):c.854A>G (p.Lys285Arg) rs1350256761 0.00001
NM_017777.4(MKS1):c.896T>C (p.Val299Ala) rs765793774 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.1185C>T (p.Ile395=) rs564430600 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_024312.5(GNPTAB):c.1530G>A (p.Ala510=) rs776105842 0.00001
NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp) rs749452608 0.00001
NM_024312.5(GNPTAB):c.1863C>T (p.Asn621=) rs758930596 0.00001
NM_024312.5(GNPTAB):c.2094A>G (p.Val698=) rs778029826 0.00001
NM_024312.5(GNPTAB):c.215C>T (p.Pro72Leu) rs755156585 0.00001
NM_024312.5(GNPTAB):c.216C>T (p.Pro72=) rs1465667194 0.00001
NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys) rs765924360 0.00001
NM_024312.5(GNPTAB):c.2504C>T (p.Pro835Leu) rs550940255 0.00001
NM_024312.5(GNPTAB):c.2505C>T (p.Pro835=) rs775650744 0.00001
NM_024312.5(GNPTAB):c.2603A>T (p.Asn868Ile) rs920564230 0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031 0.00001
NM_024312.5(GNPTAB):c.2715+3A>G rs766588869 0.00001
NM_024312.5(GNPTAB):c.272A>G (p.Lys91Arg) rs752519391 0.00001
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009 0.00001
NM_024312.5(GNPTAB):c.3148C>A (p.Leu1050Met) rs1402805700 0.00001
NM_024312.5(GNPTAB):c.3182T>C (p.Leu1061Pro) rs143333669 0.00001
NM_024312.5(GNPTAB):c.3198G>A (p.Thr1066=) rs1952969149 0.00001
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024312.5(GNPTAB):c.42G>C (p.Leu14=) rs376257286 0.00001
NM_024312.5(GNPTAB):c.452T>G (p.Leu151Arg) rs200015550 0.00001
NM_024312.5(GNPTAB):c.578A>G (p.Asp193Gly) rs935456185 0.00001
NM_024312.5(GNPTAB):c.637-6T>G rs750793712 0.00001
NM_024312.5(GNPTAB):c.771+7A>C rs375495503 0.00001
NM_024312.5(GNPTAB):c.823A>G (p.Lys275Glu) rs781186859 0.00001
NM_024312.5(GNPTAB):c.872A>G (p.Asp291Gly) rs775153910 0.00001
NM_024312.5(GNPTAB):c.979G>A (p.Glu327Lys) rs779983477 0.00001
NM_032520.5(GNPTG):c.-4C>T rs554707396 0.00001
NM_032520.5(GNPTG):c.138C>T (p.Ala46=) rs538632263 0.00001
NM_032520.5(GNPTG):c.145C>T (p.Leu49Phe) rs1343539436 0.00001
NM_032520.5(GNPTG):c.16G>T (p.Ala6Ser) rs1243134852 0.00001
NM_032520.5(GNPTG):c.179-1G>A rs988175540 0.00001
NM_032520.5(GNPTG):c.19C>T (p.Arg7Trp) rs532236241 0.00001
NM_032520.5(GNPTG):c.22C>T (p.Leu8Phe) rs1292636769 0.00001
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_032520.5(GNPTG):c.411+4G>A rs751575030 0.00001
NM_032520.5(GNPTG):c.478G>A (p.Ala160Thr) rs756971692 0.00001
NM_032520.5(GNPTG):c.538C>G (p.Leu180Val) rs776105074 0.00001
NM_032520.5(GNPTG):c.609+7G>A rs201419201 0.00001
NM_032520.5(GNPTG):c.683C>T (p.Thr228Ile) rs754489307 0.00001
NM_032520.5(GNPTG):c.773G>A (p.Arg258Lys) rs751017354 0.00001
NM_032520.5(GNPTG):c.806C>A (p.Pro269His) rs1596616485 0.00001
NM_032520.5(GNPTG):c.823G>C (p.Glu275Gln) rs1391028440 0.00001
NM_032520.5(GNPTG):c.843dup (p.His284fs) rs2034958641 0.00001
NM_032520.5(GNPTG):c.84G>A (p.Lys28=) rs1355884113 0.00001
NM_032520.5(GNPTG):c.94G>A (p.Glu32Lys) rs1331412160 0.00001
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His) rs587595632 0.00001
NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp) rs782616691 0.00001
NM_033159.4(HYAL1):c.200G>A (p.Arg67His) rs782491043 0.00001
NM_033159.4(HYAL1):c.796G>A (p.Val266Met) rs782299729 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr) rs1476919967 0.00001
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu) rs1465935790 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 0.00001
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr) rs1804531287 0.00001
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His) rs1220333666 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596 0.00001
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro) rs1433404175 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met) rs561701894 0.00001
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys) rs1163166400 0.00001
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val) rs776791119 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.234C>T (p.His78=) rs760790643 0.00001
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg) rs1427202401 0.00001
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr) rs768887468 0.00001
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00001
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=) rs1335563220 0.00001
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser) rs752128693 0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=) rs1251787808 0.00001
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys) rs199861011 0.00001
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly) rs1803591916 0.00001
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val) rs777641646 0.00001
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met) rs1287447019 0.00001
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu) rs372933126 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_153717.3(EVC):c.1315+8G>A rs550411377 0.00001
NM_153717.3(EVC):c.1602C>T (p.Phe534=) rs766294209 0.00001
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn) rs1241844907 0.00001
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln) rs930402783 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467 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_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847 0.00001
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576 0.00001
NM_182760.4(SUMF1):c.445-1G>A rs1237016251 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_182760.4(SUMF1):c.482T>C (p.Met161Thr) rs375792563 0.00001
NM_182760.4(SUMF1):c.48G>C (p.Leu16=) rs921740271 0.00001
NM_182760.4(SUMF1):c.602+10G>T rs376667963 0.00001
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171 0.00001
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102 0.00001
NM_182760.4(SUMF1):c.78G>A (p.Ser26=) rs534380202 0.00001
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845 0.00001
NM_000027.4(AGA):c.*3C>T rs1736640740
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.128-7dup rs1736960600
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.19T>C (p.Leu7=) rs2111028551
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.224T>C (p.Phe75Ser) rs757065230
NM_000027.4(AGA):c.308G>A (p.Gly103Glu) rs1736932419
NM_000027.4(AGA):c.334A>G (p.Ile112Val) rs925345330
NM_000027.4(AGA):c.34G>C (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.585T>C (p.His195=) rs1736860088
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del) rs764622951
NM_000027.4(AGA):c.978T>G (p.Phe326Leu) rs373878347
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.116_123del (p.Ala39fs) rs1554032243
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp) rs1748937951
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_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.951A>G (p.Arg317=) rs1318270777
NM_000112.4(SLC26A2):c.105A>T (p.Ser35=) rs765269781
NM_000112.4(SLC26A2):c.132C>G (p.Thr44=) rs1202182617
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His) rs745802790
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs) rs772515802
NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del) rs1204857377
NM_000112.4(SLC26A2):c.750T>C (p.Asp250=) rs1180284436
NM_000112.4(SLC26A2):c.902A>G (p.Asn301Ser) rs750646790
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val) rs2040094709
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1123T>C (p.Leu375=) rs2040093515
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly) rs985078327
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.12G>T (p.Ser4=) rs1009539881
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1359+4A>T rs35476732
NM_000135.4(FANCA):c.137C>T (p.Ser46Leu) rs2041098068
NM_000135.4(FANCA):c.1388A>G (p.His463Arg) rs2039847321
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr) rs1190475225
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val) rs752092543
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1568T>A (p.Val523Asp) rs2039769336
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu) rs755925068
NM_000135.4(FANCA):c.1588C>T (p.Leu530Phe) rs1567628801
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1627-5A>G rs2039645024
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser) rs763074159
NM_000135.4(FANCA):c.1660G>A (p.Ala554Thr) rs2143432789
NM_000135.4(FANCA):c.166G>A (p.Asp56Asn) rs1360481164
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1805C>G (p.Ala602Gly) rs374968669
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup) rs2039604604
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val) rs146491000
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr) rs139235751
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser) rs924548467
NM_000135.4(FANCA):c.1932C>G (p.Asn644Lys) rs1598116392
NM_000135.4(FANCA):c.1940A>G (p.Glu647Gly) rs1374330952
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala) rs147300317
NM_000135.4(FANCA):c.19C>G (p.Pro7Ala) rs780667753
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) rs780667753
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.2000C>A (p.Pro667His) rs755293596
NM_000135.4(FANCA):c.2014+10G>T rs1567620967
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2028G>C (p.Gln676His) rs2039336156
NM_000135.4(FANCA):c.2098T>A (p.Ser700Thr) rs767631694
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro) rs767631694
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys) rs774565293
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu) rs1163885123
NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr) rs751015814
NM_000135.4(FANCA):c.2213C>A (p.Pro738His) rs762333391
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_000135.4(FANCA):c.2223-8C>G rs1598110961
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) rs747723074
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg) rs545765795
NM_000135.4(FANCA):c.2368C>G (p.His790Asp) rs2039266002
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly) rs2039264657
NM_000135.4(FANCA):c.2428G>T (p.Ala810Ser) rs1263882781
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.255C>A (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.2601G>A (p.Lys867=) rs746889340
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2684C>A (p.Pro895His) rs1234246540
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe) rs752776388
NM_000135.4(FANCA):c.2716G>A (p.Ala906Thr) rs763769211
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.2786A>C (p.Tyr929Ser) rs2038969615
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln) rs376106733
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.2853-8T>C rs2038845082
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu) rs2038844439
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.3029G>T (p.Gly1010Val) rs767105291
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His) rs371351450
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val) rs964650941
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg) rs142379991
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg) rs756620986
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3421G>T (p.Ala1141Ser) rs547984666
NM_000135.4(FANCA):c.3482C>A (p.Thr1161Lys) rs142833057
NM_000135.4(FANCA):c.3513+4G>C rs878946193
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3580C>T (p.Pro1194Ser) rs1415910337
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3626+5G>A rs370801038
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3650C>G (p.Ser1217Cys) rs2062171853
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly) rs1465548673
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
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.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln) rs761705192
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg) rs1264855885
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3934+4A>G rs2062087707
NM_000135.4(FANCA):c.3935-1G>A rs1555533693
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe) rs551306400
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro) rs374649848
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg) rs1272640964
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val) rs766710139
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp) rs1477796994
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu) rs529210242
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met) rs201225325
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu) rs201225325
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.4260+6G>A rs374793201
NM_000135.4(FANCA):c.4260+6G>C rs374793201
NM_000135.4(FANCA):c.4260+6G>T rs374793201
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly) rs587778321
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys) rs372691338
NM_000135.4(FANCA):c.520C>A (p.Gln174Lys) rs1454055874
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.545T>C (p.Val182Ala) rs2040743042
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.558C>G (p.His186Gln) rs149159377
NM_000135.4(FANCA):c.575G>T (p.Ser192Ile) rs771439604
NM_000135.4(FANCA):c.643_644del (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) rs776297241
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser) rs746814384
NM_000135.4(FANCA):c.69C>G (p.Ala23=) rs746429608
NM_000135.4(FANCA):c.718C>G (p.Gln240Glu) rs1184639006
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.765A>C (p.Arg255Ser) rs1025722534
NM_000135.4(FANCA):c.768T>C (p.Thr256=) rs1459779461
NM_000135.4(FANCA):c.76C>G (p.Leu26Val) rs2041137276
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala) rs200988394
NM_000135.4(FANCA):c.79+4G>A rs2041136967
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933
NM_000135.4(FANCA):c.80-10C>A rs771005210
NM_000135.4(FANCA):c.80-8C>G rs749080227
NM_000135.4(FANCA):c.826+10T>C rs536052530
NM_000135.4(FANCA):c.869C>G (p.Ser290Cys) rs185984960
NM_000135.4(FANCA):c.86G>T (p.Arg29Met) rs764561391
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr) rs878853667
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn) rs759630319
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe) rs587779899
NM_000136.3(FANCC):c.1067C>A (p.Pro356His) rs1060502517
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg) rs730881721
NM_000136.3(FANCC):c.110A>C (p.His37Pro) rs1564794663
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala) rs745693332
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg) rs371897078
NM_000136.3(FANCC):c.1198T>G (p.Phe400Val) rs1480679034
NM_000136.3(FANCC):c.120G>C (p.Gln40His) rs905858585
NM_000136.3(FANCC):c.1264C>T (p.Leu422=) rs756716463
NM_000136.3(FANCC):c.1330-10T>C rs1386511892
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile) rs1554828492
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.140A>G (p.Lys47Arg) rs1588353368
NM_000136.3(FANCC):c.1427A>G (p.Asp476Gly) rs1375711161
NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del) rs2071510744
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys) rs1554828332
NM_000136.3(FANCC):c.1560C>G (p.His520Gln) rs150020474
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe) rs1060502518
NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu) rs971409322
NM_000136.3(FANCC):c.1597T>G (p.Trp533Gly) rs730881728
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg) rs1197938479
NM_000136.3(FANCC):c.166-3C>T rs1554857868
NM_000136.3(FANCC):c.17T>G (p.Val6Gly) rs527289778
NM_000136.3(FANCC):c.197C>T (p.Thr66Ile) rs762234072
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.222T>C (p.Ala74=) rs1554857821
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys) rs876661132
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro) rs752249253
NM_000136.3(FANCC):c.266T>G (p.Ile89Ser) rs2136049598
NM_000136.3(FANCC):c.340A>T (p.Ile114Leu) rs1830580247
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.349_360del (p.Val117_His120del) rs1825723799
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp) rs1419677503
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala) rs864622581
NM_000136.3(FANCC):c.425C>A (p.Pro142His) rs1064793605
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile) rs950623649
NM_000136.3(FANCC):c.511A>G (p.Thr171Ala) rs1554842592
NM_000136.3(FANCC):c.523A>G (p.Met175Val) rs876661083
NM_000136.3(FANCC):c.534G>C (p.Glu178Asp) rs776694218
NM_000136.3(FANCC):c.556G>A (p.Val186Ile) rs730881713
NM_000136.3(FANCC):c.560G>A (p.Cys187Tyr) rs1239389302
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu) rs1457631500
NM_000136.3(FANCC):c.659T>G (p.Phe220Cys) rs1012529150
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.686+5G>A rs1064794691
NM_000136.3(FANCC):c.689AGA[1] (p.Lys231del) rs3831244
NM_000136.3(FANCC):c.706A>C (p.Met236Leu) rs771319430
NM_000136.3(FANCC):c.738C>T (p.His246=) rs1414558793
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.891G>T (p.Met297Ile) rs1554833192
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.897G>A (p.Arg299=) rs759083348
NM_000136.3(FANCC):c.913A>G (p.Thr305Ala) rs1397912085
NM_000136.3(FANCC):c.938C>T (p.Ala313Val) rs730881712
NM_000136.3(FANCC):c.967G>A (p.Val323Ile) rs730881720
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg) rs374915316
NM_000136.3(FANCC):c.997-3C>T rs878853674
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys) rs1230391147
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
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.1499A>G (p.Asn500Ser) rs779856036
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr) rs1385318543
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.376G>A (p.Val126Met) rs775553760
NM_000199.5(SGSH):c.540C>A (p.Pro180=) rs749721134
NM_000199.5(SGSH):c.664-39_664-38del rs34029730
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly) rs374621913
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly) rs2089307094
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.236C>T (p.Ala79Val) rs368513342
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-6del rs781852261
NM_000202.8(IDS):c.709-661del rs1196180401
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000202.8(IDS):c.958G>A (p.Asp320Asn) rs2089379111
NM_000203.5(IDUA):c.-2C>T rs1472246458
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.1105T>C (p.Phe369Leu) rs1715147247
NM_000203.5(IDUA):c.1149C>T (p.Arg383=) rs767632084
NM_000203.5(IDUA):c.1163del (p.Thr388fs) rs1577541504
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly) rs1188900288
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del) rs1715188461
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg) rs895626490
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly) rs1715192601
NM_000203.5(IDUA):c.1449C>T (p.Pro483=) rs761637332
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu) rs1715210316
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1479C>G (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1491G>A (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met) rs749053703
NM_000203.5(IDUA):c.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn) rs773249605
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.1856G>A (p.Arg619Gln) rs372137794
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.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys) rs1715015091
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp) rs866656054
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.493+6C>G rs376738689
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro) rs1713786448
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-8C>G rs6848974
NM_000203.5(IDUA):c.590-8C>T rs6848974
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.618G>A (p.Ser206=) rs377312287
NM_000203.5(IDUA):c.675C>T (p.Phe225=) rs767436466
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys) rs748239393
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_000203.5(IDUA):c.973-45G>C rs6831021
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro) rs1222686614
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) rs146438251
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.202_203insCCG (p.Leu67_Gly68insAla) rs1469781984
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu) rs1460838744
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys) rs1352416909
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.531+1G>A rs1245939928
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) rs1210968366
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.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) rs368225510
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile) rs957954726
NM_000288.4(PEX7):c.693A>G (p.Val231=) rs1582759944
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000288.4(PEX7):c.748-4G>T rs74658757
NM_000288.4(PEX7):c.760C>T (p.His254Tyr) rs1775195476
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) rs267608258
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp) rs1184131500
NM_000396.4(CTSK):c.503T>C (p.Val168Ala) rs1309902734
NM_000396.4(CTSK):c.606A>G (p.Pro202=) rs1654040742
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
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.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn) rs769653813
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.2046+6G>T rs748175413
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr) rs2023810273
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
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.2497G>C (p.Gly833Arg) rs144244650
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro) rs140281123
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg) rs2023711115
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala) rs1365532315
NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu) rs766559062
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs) rs1735642901
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=) rs1407475487
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_001017420.3(ESCO2):c.1013+1G>A rs1225195349
NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=) rs140062105
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.402G>A (p.Lys134=) rs1804800125
NM_001017420.3(ESCO2):c.405G>A (p.Lys135=) rs767762209
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.765T>C (p.Phe255=) rs780741900
NM_001017420.3(ESCO2):c.768G>A (p.Ala256=) rs372611248
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001017420.3(ESCO2):c.955+10A>G rs1421884058
NM_001017420.3(ESCO2):c.955+7_955+8del rs555057427
NM_001039958.2(MESP2):c.1122C>A (p.Gly374=) rs765218369
NM_001039958.2(MESP2):c.189C>G (p.Ala63=) rs534821207
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly) rs71647809
NM_001039958.2(MESP2):c.237G>C (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.237G>T (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.245A>G (p.Gln82Arg) rs1968366047
NM_001039958.2(MESP2):c.248G>C (p.Arg83Pro) rs986299993
NM_001039958.2(MESP2):c.255C>G (p.Ser85Arg) rs1377497655
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) rs1452984345
NM_001039958.2(MESP2):c.278G>C (p.Arg93Pro) rs1968366878
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) rs71647808
NM_001039958.2(MESP2):c.378C>G (p.Arg126=) rs748816022
NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala) rs1968372166
NM_001039958.2(MESP2):c.498C>A (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9]) rs200021459
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7]) rs749710849
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001039958.2(MESP2):c.693C>T (p.Ala231=) rs901621478
NM_001039958.2(MESP2):c.966T>G (p.Ala322=) rs768285654
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=) rs139809889
NM_001127671.2(LIFR):c.1365A>G (p.Leu455=) rs1204654428
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001127671.2(LIFR):c.143-37GT[16] rs10637374
NM_001127671.2(LIFR):c.143-5_143-3del rs778581246
NM_001127671.2(LIFR):c.2168-1G>A rs2112393633
NM_001127671.2(LIFR):c.231T>C (p.Thr77=) rs2112564224
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter) rs756675225
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) rs1561159768
NM_002076.4(GNS):c.1309-9T>C rs1869033080
NM_002076.4(GNS):c.132C>G (p.Thr44=) rs1592514574
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.625-2A>G rs2136247666
NM_003659.4(AGPS):c.1152C>A (p.Val384=) rs529236041
NM_003659.4(AGPS):c.1376A>G (p.Asp459Gly) rs1688501814
NM_003659.4(AGPS):c.1536A>T (p.Ala512=) rs1036071531
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=) rs1224416609
NM_003659.4(AGPS):c.1874A>C (p.Gln625Pro) rs769818292
NM_003659.4(AGPS):c.197C>T (p.Ala66Val) rs774854340
NM_003659.4(AGPS):c.258G>A (p.Lys86=) rs1685066744
NM_003659.4(AGPS):c.40G>T (p.Gly14Cys) rs1217837187
NM_003659.4(AGPS):c.582A>G (p.Ile194Met) rs1686432818
NM_003659.4(AGPS):c.72C>T (p.Asp24=) rs923081006
NM_003659.4(AGPS):c.952G>A (p.Ala318Thr) rs1171884922
NM_006019.4(TCIRG1):c.1006C>G (p.Leu336Val) rs1855355458
NM_006019.4(TCIRG1):c.1006C>T (p.Leu336=) rs1855355458
NM_006019.4(TCIRG1):c.1100T>A (p.Phe367Tyr) rs913332283
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=) rs570336313
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=) rs534950651
NM_006019.4(TCIRG1):c.1674-9del rs1855654196
NM_006019.4(TCIRG1):c.170G>T (p.Arg57Leu) rs150648332
NM_006019.4(TCIRG1):c.17G>A (p.Arg6Gln) rs768203698
NM_006019.4(TCIRG1):c.1845C>T (p.Leu615=) rs755196821
NM_006019.4(TCIRG1):c.1887+130C>T rs928213157
NM_006019.4(TCIRG1):c.1887+175A>G rs2075609
NM_006019.4(TCIRG1):c.1978C>G (p.Arg660Gly) rs528045019
NM_006019.4(TCIRG1):c.2106A>G (p.Glu702=) rs771368616
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.2293G>A (p.Glu765Lys) rs1855752104
NM_006019.4(TCIRG1):c.2392C>T (p.Leu798=) rs1855760265
NM_006019.4(TCIRG1):c.243G>T (p.Pro81=) rs756073508
NM_006019.4(TCIRG1):c.261G>A (p.Pro87=) rs887998539
NM_006019.4(TCIRG1):c.308G>C (p.Arg103Pro) rs775326246
NM_006019.4(TCIRG1):c.381C>T (p.Leu127=) rs1266423367
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
NM_006019.4(TCIRG1):c.979C>A (p.Arg327=) rs749361897
NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter) rs758888999
NM_014140.4(SMARCAL1):c.1488C>T (p.Ala496=) rs1694058200
NM_014140.4(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.4(SMARCAL1):c.2083A>C (p.Lys695Gln) rs1694788304
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met) rs745349150
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=) rs747379387
NM_014140.4(SMARCAL1):c.2738G>A (p.Gly913Glu) rs1695230816
NM_014140.4(SMARCAL1):c.2849T>G (p.Phe950Cys) rs1168400155
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.4(SMARCAL1):c.422A>G (p.Tyr141Cys) rs1296535575
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034
NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu) rs1693572522
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) rs371378288
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) rs140295281
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) rs751619487
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu) rs773157492
NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) rs144764478
NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe) rs144764478
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn) rs372554696
NM_017777.4(MKS1):c.1232G>A (p.Arg411His) rs200679238
NM_017777.4(MKS1):c.128C>G (p.Pro43Arg) rs1311306088
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1414C>G (p.Arg472Gly) rs181513926
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu) rs200658872
NM_017777.4(MKS1):c.1567A>G (p.Ser523Gly) rs1968502243
NM_017777.4(MKS1):c.1610G>A (p.Arg537His) rs771624307
NM_017777.4(MKS1):c.1613G>T (p.Arg538Leu) rs557678962
NM_017777.4(MKS1):c.1671G>A (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.417+1G>A rs756368560
NM_017777.4(MKS1):c.473G>A (p.Arg158Gln) rs373471917
NM_017777.4(MKS1):c.52C>A (p.Arg18=) rs557896607
NM_017777.4(MKS1):c.579C>G (p.Asn193Lys) rs1206983556
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.811C>G (p.His271Asp) rs201771125
NM_017777.4(MKS1):c.811del (p.His271fs) rs1968969593
NM_017777.4(MKS1):c.817C>G (p.Gln273Glu) rs1968968283
NM_017777.4(MKS1):c.847G>C (p.Val283Leu) rs976973396
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_024312.5(GNPTAB):c.1027G>T (p.Val343Phe) rs140518816
NM_024312.5(GNPTAB):c.1110C>G (p.His370Gln) rs1953152857
NM_024312.5(GNPTAB):c.1114-14GTT[2] rs758859457
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.150T>C (p.His50=) rs1441210167
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1655A>G (p.Gln552Arg) rs1953072471
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.1947C>T (p.Tyr649=) rs746619207
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.1960A>T (p.Ser654Cys) rs151209875
NM_024312.5(GNPTAB):c.203+2T>C rs1594242785
NM_024312.5(GNPTAB):c.2087C>T (p.Pro696Leu) rs1383772676
NM_024312.5(GNPTAB):c.2148G>A (p.Leu716=) rs374600127
NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe) rs374600127
NM_024312.5(GNPTAB):c.2618C>T (p.Thr873Ile) rs1953050858
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024312.5(GNPTAB):c.3026A>C (p.Asn1009Thr) rs1952987566
NM_024312.5(GNPTAB):c.3106A>G (p.Arg1036Gly) rs1952985795
NM_024312.5(GNPTAB):c.3314A>G (p.Tyr1105Cys) rs775751653
NM_024312.5(GNPTAB):c.3336-1G>C rs397507562
NM_024312.5(GNPTAB):c.3364G>T (p.Ala1122Ser) rs774443381
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.3515A>T (p.Tyr1172Phe) rs149859473
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.654C>T (p.Val218=) rs764176988
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.5(GNPTG):c.119A>G (p.Asn40Ser) rs2034698570
NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu) rs574801192
NM_032520.5(GNPTG):c.11G>C (p.Gly4Ala) rs574801192
NM_032520.5(GNPTG):c.178+9G>C rs2034699941
NM_032520.5(GNPTG):c.179-3C>T rs2034884159
NM_032520.5(GNPTG):c.203C>T (p.Ser68Leu) rs552402857
NM_032520.5(GNPTG):c.269C>T (p.Thr90Ile) rs149197775
NM_032520.5(GNPTG):c.276C>G (p.His92Gln) rs201992413
NM_032520.5(GNPTG):c.318-10G>A rs777991598
NM_032520.5(GNPTG):c.318C>T (p.Gly106=) rs770716391
NM_032520.5(GNPTG):c.327C>G (p.His109Gln) rs141533972
NM_032520.5(GNPTG):c.32T>C (p.Leu11Pro) rs2034692072
NM_032520.5(GNPTG):c.339C>A (p.Ile113=) rs147048228
NM_032520.5(GNPTG):c.339C>T (p.Ile113=) rs147048228
NM_032520.5(GNPTG):c.344A>C (p.Asn115Thr) rs138297609
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032520.5(GNPTG):c.36C>T (p.Leu12=) rs1567179547
NM_032520.5(GNPTG):c.373G>T (p.Asp125Tyr) rs1281782195
NM_032520.5(GNPTG):c.421G>A (p.Ala141Thr) rs2034904624
NM_032520.5(GNPTG):c.479C>A (p.Ala160Glu) rs374470431
NM_032520.5(GNPTG):c.52+11del rs2034693032
NM_032520.5(GNPTG):c.58G>A (p.Ala20Thr) rs758954616
NM_032520.5(GNPTG):c.597G>C (p.Leu199=) rs112266724
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.798C>G (p.His266Gln) rs375787769
NM_032520.5(GNPTG):c.802A>C (p.Ile268Leu) rs759796840
NM_032520.5(GNPTG):c.862A>C (p.Arg288=) rs200471078
NM_032520.5(GNPTG):c.877G>A (p.Glu293Lys) rs2034963316
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter) rs780260521
NM_033159.4(HYAL1):c.551C>T (p.Ala184Val) rs1225771471
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln) rs1299209150
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu) rs1804152812
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=) rs770462636
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu) rs377486419
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln) rs753355844
NM_152419.3(HGSNAT):c.1465-10T>C rs1804745819
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys) rs1177263214
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser) rs754143732
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro) rs928930218
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met) rs1413168448
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg) rs1804852352
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr) rs374071098
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg) rs374071098
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys) rs553837106
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met) rs1195940980
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu) rs1490698793
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1109A>T (p.Glu370Val) rs778032532
NM_153717.3(EVC):c.1135G>T (p.Ala379Ser) rs760174792
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1564-3C>T rs747435572
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1850G>T (p.Arg617Leu) rs771110251
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter) rs1329006994
NM_153717.3(EVC):c.1995G>T (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2274G>A (p.Lys758=) rs199611644
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2395A>G (p.Arg799Gly) rs1715095634
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser) rs780548102
NM_153717.3(EVC):c.2925A>C (p.Glu975Asp) rs1399872123
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.46C>T (p.Leu16=) rs1722990488
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.696G>C (p.Lys232Asn) rs371664035
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_182760.4(SUMF1):c.140C>G (p.Ala47Gly) rs779961693
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
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.305G>T (p.Gly102Val) rs1703026667
NM_182760.4(SUMF1):c.444+4A>C rs1027883041
NM_182760.4(SUMF1):c.464C>T (p.Ser155Phe) rs1702889459
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_182760.4(SUMF1):c.803C>T (p.Thr268Ile) rs774110518
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.954+7A>G rs560003466
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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