ClinVar Miner

List of variants reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5909
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_000057.4(BLM):c.2193+61G>C rs28385029 0.07054
NM_000135.4(FANCA):c.2222+73A>G rs1800341 0.06356
NM_000135.4(FANCA):c.3513+62C>T rs34019730 0.05570
NM_000203.5(IDUA):c.1727+75G>T rs2305489 0.04671
NM_001360.3(DHCR7):c.-23T>C rs12573951 0.04501
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr) rs17379472 0.02860
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_001360.3(DHCR7):c.-35C>T rs75974711 0.02735
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_054012.4(ASS1):c.175-1129A>G rs59227343 0.02410
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile) rs74453879 0.01453
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys) rs62000389 0.01415
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) rs28541364 0.01398
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_004006.3(DMD):c.93+5655C>T rs145403882 0.01278
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=) rs61754905 0.01277
NM_004006.3(DMD):c.9085-15497G>C rs73466395 0.01272
NM_004006.3(DMD):c.93+5493T>A rs143247129 0.01256
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=) rs34591179 0.01236
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_001142800.2(EYS):c.6452A>G (p.Asn2151Ser) rs141603172 0.01185
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_000486.6(AQP2):c.345C>T (p.Asp115=) rs60629501 0.01171
NM_000128.4(F11):c.-54G>A rs4253814 0.01170
NM_004006.3(DMD):c.9225-669G>A rs139193266 0.01156
NM_001283009.2(RTEL1):c.1192-9del rs200008996 0.01145
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_001164508.2(NEB):c.3147+5G>A rs74859201 0.01118
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_054012.4(ASS1):c.-5-1883C>T rs12004384 0.01076
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552 0.01062
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val) rs35636875 0.01015
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000390.4(CHM):c.1802A>G (p.Asn601Ser) rs145877269 0.00962
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00947
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128 0.00938
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=) rs145378707 0.00920
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_201548.5(CERKL):c.677+566G>T rs10185262 0.00821
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874 0.00791
NM_004006.3(DMD):c.*38G>A rs16989352 0.00785
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631 0.00732
NM_000531.6(OTC):c.867+1136C>A rs7050531 0.00723
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138 0.00658
NM_000153.4(GALC):c.195+10A>G rs191767015 0.00653
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338 0.00619
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632 0.00579
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001384140.1(PCDH15):c.-5A>G rs142016527 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000128.4(F11):c.731A>G (p.Gln244Arg) rs5969 0.00564
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000531.6(OTC):c.540+296G>C rs746940552 0.00548
NM_000486.6(AQP2):c.39G>A (p.Val13=) rs61733029 0.00540
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00525
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790 0.00524
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409 0.00524
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_004006.3(DMD):c.9225-301T>C rs73617063 0.00503
NM_004006.3(DMD):c.9225-645T>C rs73617065 0.00503
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_014625.4(NPHS2):c.87C>G (p.Ala29=) rs12123397 0.00495
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00487
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319 0.00467
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294 0.00466
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_006096.4(NDRG1):c.879G>A (p.Pro293=) rs2233340 0.00458
NM_023036.6(DNAI2):c.747C>T (p.Gly249=) rs148488355 0.00458
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_000492.4(CFTR):c.3718-2530A>G rs213990 0.00445
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453 0.00443
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929 0.00412
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His) rs2229824 0.00408
NM_000182.5(HADHA):c.2146+16T>C rs145930159 0.00408
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_000136.3(FANCC):c.1329+175C>T rs112446681 0.00401
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_004646.4(NPHS1):c.1170+8G>A rs140808195 0.00400
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=) rs73467954 0.00400
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_001142800.2(EYS):c.7006G>A (p.Val2336Ile) rs74848648 0.00397
NM_000049.4(ASPA):c.245T>C (p.Met82Thr) rs80099330 0.00394
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00388
NM_000359.3(TGM1):c.361C>T (p.Arg121Cys) rs80145541 0.00384
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_014297.5(ETHE1):c.227-9C>G rs199921503 0.00367
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=) rs113401495 0.00364
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00354
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_001142800.2(EYS):c.6725+10G>A rs140506043 0.00353
NM_019098.5(CNGB3):c.1179-6T>C rs114127590 0.00352
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) rs149222801 0.00339
NM_000527.4(LDLR):c.-217C>T rs17249141 0.00338
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_000486.6(AQP2):c.204C>T (p.Asn68=) rs57915981 0.00332
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_000481.4(AMT):c.-1G>A rs143841175 0.00328
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000094.4(COL7A1):c.8472C>T (p.Ala2824=) rs116591500 0.00322
NM_001127671.2(LIFR):c.789A>G (p.Val263=) rs141925289 0.00321
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_000152.5(GAA):c.1438-32G>A rs199897967 0.00320
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00320
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_004553.6(NDUFS6):c.96C>A (p.Val32=) rs140619622 0.00311
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_005957.5(MTHFR):c.1264G>A (p.Gly422Arg) rs45571736 0.00300
NM_000203.5(IDUA):c.1293C>T (p.Ala431=) rs559676638 0.00298
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_000133.4(F9):c.967G>A (p.Glu323Lys) rs150351950 0.00294
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308 0.00290
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=) rs147438950 0.00289
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00289
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000080.4(CHRNE):c.1220-5G>A rs188564977 0.00287
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959 0.00286
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_000094.4(COL7A1):c.5125-6C>T rs372345936 0.00284
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=) rs192266658 0.00281
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys) rs61736595 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_022042.4(SLC26A1):c.*877C>T rs200911718 0.00276
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln) rs149949619 0.00274
NM_000053.4(ATP7B):c.1707+29dup rs113829533 0.00273
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_182894.3(VSX2):c.522C>T (p.Asp174=) rs78509400 0.00273
NM_000137.4(FAH):c.554-20T>G rs199501793 0.00272
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_004006.3(DMD):c.9085-15539G>A rs143848649 0.00271
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser) rs200318120 0.00269
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe) rs148279196 0.00269
NM_000136.3(FANCC):c.-225C>T rs182633348 0.00262
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) rs35005216 0.00257
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_000153.4(GALC):c.-463C>T rs181956126 0.00254
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777 0.00252
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_002529.4(NTRK1):c.612G>A (p.Ser204=) rs114320051 0.00251
NM_000101.4(CYBA):c.226G>A (p.Val76Met) rs149344911 0.00250
NM_001201543.2(FAM161A):c.1551G>A (p.Thr517=) rs143622468 0.00248
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=) rs149584733 0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln) rs139645527 0.00242
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser) rs113374262 0.00239
NM_000284.4(PDHA1):c.292-59C>T rs186854596 0.00238
NM_201548.5(CERKL):c.157G>A (p.Glu53Lys) rs141389059 0.00238
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) rs75671029 0.00236
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln) rs77277189 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408 0.00233
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00230
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) rs61747367 0.00226
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=) rs75506816 0.00220
NM_003907.3(EIF2B5):c.1686G>A (p.Gln562=) rs114216498 0.00220
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724 0.00219
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_005957.5(MTHFR):c.348C>T (p.Ala116=) rs144921426 0.00217
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_001283009.2(RTEL1):c.2414-6C>T rs376868750 0.00214
NM_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_004006.3(DMD):c.31+36946C>T rs186833917 0.00211
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_003640.5(ELP1):c.1143G>A (p.Val381=) rs35936107 0.00210
NM_153006.3(NAGS):c.1281C>G (p.Ala427=) rs371886833 0.00210
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=) rs7271776 0.00206
NM_004035.7(ACOX1):c.804G>A (p.Pro268=) rs114057990 0.00205
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00205
NM_000170.3(GLDC):c.2748G>A (p.Leu916=) rs139982267 0.00203
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_001142800.2(EYS):c.-337T>A rs145321084 0.00201
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) rs2233328 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205 0.00200
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=) rs139346202 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221 0.00199
NM_000016.6(ACADM):c.468+71T>C rs571856182 0.00198
NM_002454.3(MTRR):c.857C>T (p.Thr286Met) rs79430644 0.00198
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377 0.00197
NM_000170.3(GLDC):c.40C>A (p.Arg14Ser) rs182760732 0.00197
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_201525.4(ADGRG1):c.1017+8G>A rs186479054 0.00196
NM_004006.3(DMD):c.2380+11G>A rs183120304 0.00195
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
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_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) rs144430026 0.00193
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met) rs140806787 0.00192
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_000284.4(PDHA1):c.511-54G>A rs181933291 0.00184
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_000237.3(LPL):c.456T>C (p.Asn152=) rs116678290 0.00183
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00183
NM_033305.3(VPS13A):c.9078-7C>T rs186819389 0.00183
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_000330.4(RS1):c.548C>T (p.Thr183Ile) rs150172233 0.00178
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_130849.4(SLC39A4):c.504G>A (p.Glu168=) rs138825974 0.00178
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) rs143717242 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg) rs113678356 0.00177
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00177
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser) rs201961848 0.00176
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238 0.00173
NM_000352.6(ABCC8):c.945C>T (p.Ala315=) rs138521721 0.00173
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213 0.00170
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_000159.4(GCDH):c.271+3G>A rs75430014 0.00167
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799 0.00167
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_130849.4(SLC39A4):c.1704G>A (p.Thr568=) rs115808560 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_201548.5(CERKL):c.27G>A (p.Arg9=) rs368855330 0.00164
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro) rs185706635 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_000103.4(CYP19A1):c.963C>G (p.Leu321=) rs59359360 0.00160
NM_000370.3(TTPA):c.147C>T (p.Asp49=) rs199805621 0.00160
NM_000498.3(CYP11B2):c.182A>T (p.Tyr61Phe) rs147109119 0.00160
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_001384474.1(LOXHD1):c.5649G>A (p.Glu1883=) rs180858375 0.00160
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_017777.4(MKS1):c.12C>T (p.Thr4=) rs372471169 0.00160
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331 0.00158
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_201548.5(CERKL):c.783T>C (p.Pro261=) rs77741297 0.00158
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323 0.00157
NM_000203.5(IDUA):c.493+10C>T rs200000194 0.00156
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=) rs187211085 0.00156
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_012144.4(DNAI1):c.1902C>T (p.His634=) rs139197229 0.00156
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_032520.5(GNPTG):c.28T>C (p.Leu10=) rs562191082 0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667 0.00154
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_001130987.2(DYSF):c.4756-3C>T rs371227553 0.00153
NM_001142800.2(EYS):c.1899A>G (p.Gln633=) rs373197894 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018 0.00151
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) rs79705488 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000057.4(BLM):c.-5+16G>C rs547768822 0.00150
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) rs111033492 0.00150
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428 0.00149
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_004006.3(DMD):c.2293-15G>C rs369384547 0.00149
NM_004006.3(DMD):c.4344+39T>A rs72468644 0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452 0.00146
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295 0.00145
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_000543.5(SMPD1):c.1340+7C>T rs116480929 0.00144
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=) rs34055681 0.00143
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg) rs147694734 0.00143
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001142800.2(EYS):c.7107G>A (p.Leu2369=) rs187604073 0.00141
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_000237.3(LPL):c.1128C>T (p.Ile376=) rs299 0.00140
NM_000466.3(PEX1):c.1797A>G (p.Gly599=) rs76986636 0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp) rs138137682 0.00140
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=) rs115444936 0.00138
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000151.4(G6PC1):c.-45G>A rs367816430 0.00137
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn) rs140481641 0.00135
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315 0.00134
NM_002778.4(PSAP):c.120C>T (p.Ser40=) rs141231601 0.00134
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647 0.00134
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) rs76708715 0.00133
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799 0.00133
NM_003907.3(EIF2B5):c.1934C>T (p.Ala645Val) rs150130018 0.00133
NM_006623.4(PHGDH):c.510+6A>G rs371736796 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu) rs201607115 0.00132
NM_000390.4(CHM):c.1641G>T (p.Leu547=) rs148301015 0.00132
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr) rs77729067 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_001201543.2(FAM161A):c.1989C>T (p.Val663=) rs201362403 0.00131
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078 0.00131
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=) rs144252108 0.00130
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) rs144512551 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly) rs8062558 0.00128
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817 0.00126
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met) rs75685607 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln) rs185941281 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_004006.3(DMD):c.5265C>T (p.Pro1755=) rs145515413 0.00124
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_003227.4(TFR2):c.1762A>T (p.Met588Leu) rs143251494 0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_001164508.2(NEB):c.12640-4A>G rs549888246 0.00122
NM_012144.4(DNAI1):c.81+61A>G rs192896482 0.00122
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00122
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg) rs150260103 0.00122
NM_033380.3(COL4A5):c.909T>C (p.Asp303=) rs144586397 0.00122
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
NM_000094.4(COL7A1):c.6090C>T (p.Ser2030=) rs200360245 0.00121
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459 0.00121
NM_000128.4(F11):c.663C>T (p.Pro221=) rs142846329 0.00120
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243 0.00120
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00120
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_001164508.2(NEB):c.17601G>A (p.Val5867=) rs58263509 0.00118
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_001164508.2(NEB):c.8202C>T (p.Val2734=) rs144595998 0.00117
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_000094.4(COL7A1):c.7930-19C>G rs191603815 0.00116
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393 0.00116
NM_130849.4(SLC39A4):c.1851C>T (p.Pro617=) rs61729885 0.00116
NM_130849.4(SLC39A4):c.66G>A (p.Ala22=) rs142910470 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_001164508.2(NEB):c.469A>G (p.Ile157Val) rs188718613 0.00115
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907 0.00115
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe) rs61733327 0.00114
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val) rs141890870 0.00114
NM_000133.4(F9):c.696T>C (p.Asp232=) rs140835723 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000154.2(GALK1):c.1167G>A (p.Val389=) rs150586960 0.00113
NM_000359.3(TGM1):c.411C>T (p.Asp137=) rs145002586 0.00113
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004006.3(DMD):c.2745A>C (p.Thr915=) rs149922633 0.00113
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593 0.00113
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922 0.00113
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) rs111939130 0.00113
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00112
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692 0.00112
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile) rs139073821 0.00112
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=) rs111788154 0.00110
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_000274.4(OAT):c.969C>T (p.Tyr323=) rs138895801 0.00110
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_000030.3(AGXT):c.573C>T (p.Thr191=) rs146483092 0.00108
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770 0.00108
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_000128.4(F11):c.861C>T (p.Ile287=) rs5964 0.00107
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser) rs145197904 0.00106
NM_000397.4(CYBB):c.686G>A (p.Arg229His) rs139670417 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_001365088.1(SLC12A6):c.3120C>T (p.Thr1040=) rs571120129 0.00105
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609 0.00104
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=) rs144797464 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=) rs200624735 0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_000128.4(F11):c.1020C>T (p.Asn340=) rs149052026 0.00100
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=) rs377108710 0.00099
NM_033380.3(COL4A5):c.580A>G (p.Ile194Val) rs145970300 0.00099
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00098
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00098
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=) rs76946640 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228 0.00098
NM_000170.3(GLDC):c.1401+9A>G rs75555848 0.00097
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_032316.3(NICN1):c.*2307G>C rs544461335 0.00097
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000094.4(COL7A1):c.1191C>G (p.Thr397=) rs143270071 0.00096
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833 0.00096
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser) rs6151427 0.00096
NM_001142800.2(EYS):c.748+6A>T rs373742788 0.00096
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu) rs140986557 0.00096
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn) rs61736617 0.00096
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) rs114220185 0.00096
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile) rs151009402 0.00095
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275 0.00094
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869 0.00094
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=) rs148454724 0.00093
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_020533.3(MCOLN1):c.32-10A>G rs371191277 0.00093
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_014244.5(ADAMTS2):c.2865C>T (p.His955=) rs752790963 0.00092
NM_057176.3(BSND):c.527G>A (p.Arg176His) rs143711308 0.00092
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000481.4(AMT):c.510G>C (p.Val170=) rs140380954 0.00091
NM_006623.4(PHGDH):c.1208A>G (p.Asn403Ser) rs139827025 0.00091
NM_007259.5(VPS45):c.318C>T (p.Asp106=) rs150076399 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_001283009.2(RTEL1):c.762C>T (p.Asn254=) rs150877719 0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341 0.00089
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_000108.5(DLD):c.583-3C>T rs186031819 0.00088
NM_000153.4(GALC):c.15A>G (p.Leu5=) rs529350155 0.00088
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) rs145960781 0.00088
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_000151.4(G6PC1):c.562+10G>A rs199505156 0.00087
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061 0.00087
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=) rs368176460 0.00086
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_001033855.3(DCLRE1C):c.306+7A>G rs368317341 0.00085
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362 0.00085
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093 0.00084
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_000048.4(ASL):c.1029C>T (p.Leu343=) rs140532520 0.00083
NM_000094.4(COL7A1):c.5424C>T (p.Asp1808=) rs755720544 0.00083
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556 0.00083
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053 0.00083
NM_001283009.2(RTEL1):c.1348+6G>A rs371358328 0.00083
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_005957.5(MTHFR):c.732C>T (p.Thr244=) rs45486194 0.00082
NM_012203.2(GRHPR):c.234C>T (p.Ile78=) rs143337459 0.00082
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239 0.00081
NM_000128.4(F11):c.797G>A (p.Ser266Asn) rs145168351 0.00081
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013 0.00081
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=) rs115030322 0.00081
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551 0.00081
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_007259.5(VPS45):c.290-10T>C rs192850081 0.00081
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu) rs183044693 0.00080
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=) rs145715326 0.00080
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583 0.00080
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=) rs200678234 0.00080
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser) rs138045351 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_003227.4(TFR2):c.225G>A (p.Ala75=) rs148140889 0.00079
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486 0.00079
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934 0.00078
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 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_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686 0.00078
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=) rs145386883 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439 0.00077
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275 0.00077
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr) rs200112795 0.00077
NM_004937.3(CTNS):c.461+10del rs377470989 0.00077
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360 0.00076
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=) rs141621142 0.00076
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788 0.00076
NM_003907.3(EIF2B5):c.320+9C>T rs116835002 0.00076
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638 0.00076
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_001003722.2(GLE1):c.444G>A (p.Arg148=) rs143856051 0.00075
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001142800.2(EYS):c.1872G>A (p.Ser624=) rs148411571 0.00075
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=) rs141077530 0.00074
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=) rs141618172 0.00074
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_000274.4(OAT):c.1224T>C (p.His408=) rs201864147 0.00073
NM_000532.5(PCCB):c.429+7G>A rs201986472 0.00073
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro) rs201101662 0.00073
NM_001386140.1(MTTP):c.1985G>C (p.Ser662Thr) rs10011440 0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) rs150199251 0.00073
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) rs145641996 0.00073
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00073
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00072
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230 0.00072
NM_001164277.2(SLC37A4):c.785+6A>T rs369358436 0.00072
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000487.6(ARSA):c.564C>T (p.Ser188=) rs113209108 0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_001875.5(CPS1):c.1416T>C (p.Asn472=) rs148204462 0.00071
NM_006019.4(TCIRG1):c.611C>T (p.Pro204Leu) rs373711940 0.00071
NM_213653.4(HJV):c.510C>T (p.Phe170=) rs139281553 0.00071
NM_000030.3(AGXT):c.805C>T (p.Leu269=) rs151131723 0.00070
NM_000246.4(CIITA):c.1740C>G (p.Arg580=) rs78666334 0.00070
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_000397.4(CYBB):c.46-7T>C rs182039020 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_033305.3(VPS13A):c.5281C>T (p.Leu1761=) rs73467955 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085 0.00070
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser) rs201904631 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_004006.3(DMD):c.4125T>C (p.Thr1375=) rs144329742 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val) rs79212994 0.00068
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_138413.4(HOGA1):c.708G>T (p.Val236=) rs61731946 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln) rs139398367 0.00067
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245 0.00066
NM_000383.4(AIRE):c.1383C>T (p.Ala461=) rs147485628 0.00066
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00066
NM_000487.6(ARSA):c.1251C>T (p.His417=) rs140158705 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839 0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_004006.3(DMD):c.1812C>T (p.Ala604=) rs140919039 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_033380.3(COL4A5):c.834+8C>A rs201717817 0.00066
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00066
NM_000498.3(CYP11B2):c.414C>T (p.Arg138=) rs369108075 0.00065
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078 0.00065
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=) rs62208067 0.00065
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171 0.00065
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00065
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_000154.2(GALK1):c.611+9C>T rs370204015 0.00064
NM_001142800.2(EYS):c.6855C>T (p.Phe2285=) rs371505812 0.00064
NM_003907.3(EIF2B5):c.1167G>A (p.Val389=) rs112278360 0.00064
NM_004006.3(DMD):c.2199C>T (p.Ser733=) rs149882431 0.00064
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296 0.00063
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000243.3(MEFV):c.932C>T (p.Ala311Val) rs74346519 0.00063
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn) rs138399787 0.00063
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn) rs116247954 0.00062
NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=) rs147894642 0.00062
NM_002454.3(MTRR):c.54C>T (p.Ile18=) rs6413426 0.00062
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_003227.4(TFR2):c.767T>G (p.Leu256Arg) rs200287731 0.00062
NM_003907.3(EIF2B5):c.1608G>C (p.Glu536Asp) rs111933069 0.00062
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 0.00061
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=) rs147611409 0.00061
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_014049.5(ACAD9):c.432G>A (p.Ala144=) rs140225132 0.00061
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_014844.5(TECPR2):c.606T>C (p.Ser202=) rs140791062 0.00061
NM_014844.5(TECPR2):c.754C>A (p.Gln252Lys) rs147010113 0.00061
NM_032520.5(GNPTG):c.183C>T (p.Pro61=) rs140264422 0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr) rs73273219 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702 0.00060
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380 0.00060
NM_032520.5(GNPTG):c.684C>G (p.Thr228=) rs150965148 0.00060
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000237.3(LPL):c.542-8C>T rs201634558 0.00059
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000359.3(TGM1):c.696G>A (p.Glu232=) rs149605227 0.00059
NM_001673.5(ASNS):c.1164G>A (p.Glu388=) rs200290689 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val) rs199905841 0.00059
NM_000022.4(ADA):c.606+10G>A rs201045221 0.00058
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914 0.00058
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000154.2(GALK1):c.432C>T (p.Ser144=) rs150323432 0.00058
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045 0.00058
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00058
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) rs117826071 0.00058
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000157.4(GBA1):c.474C>T (p.Ile158=) rs147411159 0.00057
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_025215.6(PUS1):c.1047C>T (p.Asn349=) rs145061048 0.00057
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) rs146574121 0.00057
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NR_003051.3(RMRP):n.-7A>G rs111909453 0.00057
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000136.3(FANCC):c.1329+111C>T rs527823099 0.00056
NM_000152.5(GAA):c.1438-9G>A rs202211401 0.00056
NM_000246.4(CIITA):c.2322C>T (p.Leu774=) rs77072504 0.00056
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=) rs149264256 0.00056
NM_004006.3(DMD):c.8436T>C (p.Leu2812=) rs139365076 0.00056
NM_005373.3(MPL):c.1488C>T (p.Thr496=) rs140091584 0.00056
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_004006.3(DMD):c.5487A>G (p.Gln1829=) rs150787752 0.00055
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00055
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00054
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073 0.00054
NM_001876.4(CPT1A):c.2142+8C>T rs147563740 0.00054
NM_002485.5(NBN):c.896+4T>C rs190843577 0.00054
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu) rs144732570 0.00054
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys) rs147904018 0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=) rs369497122 0.00054
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) rs141934736 0.00054
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly) rs150532013 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000390.4(CHM):c.1244+8T>A rs369829791 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=) rs150083315 0.00053
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=) rs188173541 0.00053
NM_014244.5(ADAMTS2):c.984C>T (p.Ser328=) rs149253571 0.00053
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_000094.4(COL7A1):c.810G>A (p.Thr270=) rs138770708 0.00052
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055 0.00052
NM_000478.6(ALPL):c.468C>T (p.Asp156=) rs143621566 0.00052
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001875.5(CPS1):c.948-6C>T rs112199960 0.00052
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415 0.00052
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_001142800.2(EYS):c.-207A>G rs370140172 0.00051
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=) rs147582935 0.00051
NM_003640.5(ELP1):c.-22G>T rs150608921 0.00051
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_182894.3(VSX2):c.939T>A (p.Ala313=) rs372651860 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000329.3(RPE65):c.117C>T (p.Thr39=) rs143929144 0.00050
NM_000382.3(ALDH3A2):c.564G>A (p.Ala188=) rs61757681 0.00050
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_001122769.3(LCA5):c.1215T>G (p.Val405=) rs41270545 0.00050
NM_032520.5(GNPTG):c.477C>T (p.Tyr159=) rs201168011 0.00050
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982 0.00049
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380 0.00049
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn) rs200709847 0.00049
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_000049.4(ASPA):c.279T>C (p.Ala93=) rs144639820 0.00048
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267 0.00048
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001174089.2(SLC4A11):c.903G>A (p.Thr301=) rs193080010 0.00048
NM_001365088.1(SLC12A6):c.2613C>T (p.Arg871=) rs144297460 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_004006.3(DMD):c.2381-3T>C rs147931243 0.00048
NM_014049.5(ACAD9):c.195T>C (p.Asn65=) rs144978857 0.00048
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_025216.3(WNT10A):c.745G>A (p.Val249Ile) rs770985751 0.00048
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012 0.00048
NM_152564.5(VPS13B):c.6645A>C (p.Gly2215=) rs147817990 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000143.4(FH):c.1299C>T (p.Asn433=) rs201994824 0.00047
NM_000170.3(GLDC):c.1155+91C>T rs779753406 0.00047
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477 0.00047
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546 0.00047
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198 0.00047
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_000094.4(COL7A1):c.5769G>A (p.Glu1923=) rs143843471 0.00046
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000158.4(GBE1):c.1713C>T (p.Asp571=) rs373148836 0.00046
NM_000289.6(PFKM):c.495T>A (p.Ile165=) rs148858610 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001283009.2(RTEL1):c.1371C>T (p.Cys457=) rs138399496 0.00046
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=) rs775185371 0.00046
NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile) rs149489069 0.00046
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262 0.00046
NM_000057.4(BLM):c.645C>T (p.Ser215=) rs56218710 0.00045
NM_000170.3(GLDC):c.45G>A (p.Gly15=) rs577986419 0.00045
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=) rs116788553 0.00045
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys) rs139395045 0.00045
NM_004035.7(ACOX1):c.1344G>A (p.Val448=) rs753969664 0.00045
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_015506.3(MMACHC):c.277-4C>G rs199889403 0.00045
NM_031885.5(BBS2):c.525A>G (p.Gly175=) rs34191306 0.00045
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_138413.4(HOGA1):c.237C>T (p.Gly79=) rs148094180 0.00044
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817 0.00043
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000094.4(COL7A1):c.4046C>T (p.Pro1349Leu) rs184756277 0.00043
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly) rs141366997 0.00043
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817 0.00043
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) rs780294227 0.00043
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_004006.3(DMD):c.6732G>C (p.Gln2244His) rs142531761 0.00043
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_014363.6(SACS):c.3637T>C (p.Leu1213=) rs577638741 0.00043
NM_019098.5(CNGB3):c.2130G>A (p.Glu710=) rs149271453 0.00043
NM_020533.3(MCOLN1):c.36C>T (p.Thr12=) rs148187755 0.00043
NM_000133.4(F9):c.8G>A (p.Arg3His) rs148060786 0.00042
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860 0.00042
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser) rs185347145 0.00042
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_004006.3(DMD):c.2824A>G (p.Met942Val) rs371648742 0.00042
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=) rs375861433 0.00042
NM_004646.4(NPHS1):c.699C>T (p.Thr233=) rs144398621 0.00042
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=) rs140601882 0.00042
NM_014049.5(ACAD9):c.510G>A (p.Ala170=) rs187374592 0.00042
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln) rs139377969 0.00042
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_000022.4(ADA):c.660G>A (p.Ser220=) rs147038410 0.00041
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585 0.00041
NM_000094.4(COL7A1):c.2544C>T (p.Val848=) rs139545952 0.00041
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_000137.4(FAH):c.706+9T>C rs368042270 0.00041
NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=) rs114064941 0.00041
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000383.4(AIRE):c.1437G>A (p.Val479=) rs181029582 0.00041
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_001164508.2(NEB):c.5031+4T>C rs370999716 0.00041
NM_001384474.1(LOXHD1):c.2352C>T (p.Pro784=) rs111493023 0.00041
NM_001384474.1(LOXHD1):c.5691G>C (p.Leu1897=) rs527820569 0.00041
NM_001953.5(TYMP):c.1189C>T (p.Leu397=) rs777564992 0.00041
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) rs149931573 0.00041
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_000094.4(COL7A1):c.2449A>G (p.Met817Val) rs147017402 0.00040
NM_000359.3(TGM1):c.2160C>T (p.Thr720=) rs139387079 0.00040
NM_000359.3(TGM1):c.660T>C (p.Phe220=) rs201493499 0.00040
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr) rs145157196 0.00040
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=) rs368890059 0.00040
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=) rs200900947 0.00040
NM_130849.4(SLC39A4):c.744C>T (p.Ala248=) rs201676788 0.00040
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_000094.4(COL7A1):c.2106C>T (p.Val702=) rs75551775 0.00039
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000206.3(IL2RG):c.282G>A (p.Ser94=) rs142807857 0.00039
NM_000232.5(SGCB):c.768C>T (p.Ile256=) rs149121189 0.00039
NM_001142800.2(EYS):c.1638C>T (p.Asp546=) rs373584729 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=) rs78860240 0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001876.4(CPT1A):c.336C>T (p.Thr112=) rs61731902 0.00039
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr) rs200431186 0.00039
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_033305.3(VPS13A):c.8668-10G>C rs371453974 0.00039
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr) rs144905283 0.00039
NM_000023.4(SGCA):c.1047C>T (p.Ala349=) rs199518562 0.00038
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000274.4(OAT):c.900+9C>A rs372834151 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674 0.00038
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys) rs757776621 0.00038
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_003640.5(ELP1):c.909C>G (p.Val303=) rs142420285 0.00038
NM_004006.3(DMD):c.5181A>T (p.Ile1727=) rs200887855 0.00038
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450 0.00038
NM_012243.3(SLC35A3):c.63T>G (p.Val21=) rs141542767 0.00038
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842 0.00038
NM_025215.6(PUS1):c.987C>T (p.Pro329=) rs150880557 0.00038
NM_033380.3(COL4A5):c.2768-10T>C rs370284884 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=) rs372909374 0.00038
NM_182894.3(VSX2):c.171C>G (p.Ala57=) rs201395979 0.00038
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358 0.00037
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00037
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793 0.00037
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780 0.00037
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281 0.00037
NM_152443.3(RDH12):c.579C>T (p.Arg193=) rs142117351 0.00037
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259 0.00036
NM_000094.4(COL7A1):c.4992A>C (p.Gly1664=) rs139988431 0.00036
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000198.4(HSD3B2):c.613C>T (p.Leu205=) rs138811555 0.00036
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028 0.00036
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=) rs149917909 0.00036
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882 0.00036
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly) rs138636858 0.00036
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_014249.4(NR2E3):c.747+9C>T rs375935703 0.00036
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=) rs143131185 0.00036
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=) rs141940484 0.00036
NM_130849.4(SLC39A4):c.1002G>A (p.Thr334=) rs149524471 0.00036
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264 0.00036
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=) rs145742052 0.00036
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_001174089.2(SLC4A11):c.78C>T (p.Phe26=) rs35732230 0.00035
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=) rs116502880 0.00035
NM_001283009.2(RTEL1):c.2851+8G>C rs376962635 0.00035
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=) rs12246234 0.00035
NM_002617.4(PEX10):c.765G>A (p.Leu255=) rs140133667 0.00035
NM_003907.3(EIF2B5):c.966C>G (p.Thr322=) rs145535476 0.00035
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=) rs145777568 0.00035
NM_004006.3(DMD):c.9564-5A>G rs201390145 0.00035
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00035
NM_014844.5(TECPR2):c.2847G>A (p.Ala949=) rs145452704 0.00035
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378 0.00035
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) rs201356862 0.00035
NM_201253.3(CRB1):c.2976A>G (p.Ala992=) rs200379694 0.00035
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701 0.00034
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000057.4(BLM):c.759G>A (p.Gln253=) rs34580216 0.00034
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079 0.00034
NM_000094.4(COL7A1):c.2600C>T (p.Pro867Leu) rs191043504 0.00034
NM_000094.4(COL7A1):c.8541T>C (p.Pro2847=) rs79473918 0.00034
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258 0.00034
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=) rs35946547 0.00034
NM_001876.4(CPT1A):c.492G>A (p.Leu164=) rs200836324 0.00034
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp) rs778087162 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) rs149563235 0.00034
NM_054012.4(ASS1):c.411C>T (p.Pro137=) rs139250536 0.00034
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
NM_201548.5(CERKL):c.102G>T (p.Thr34=) rs149346187 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 0.00033
NM_001876.4(CPT1A):c.2013C>T (p.Ser671=) rs755323437 0.00033
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_004006.3(DMD):c.10836C>T (p.Ser3612=) rs148590546 0.00033
NM_004006.3(DMD):c.8824G>T (p.Ala2942Ser) rs755127162 0.00033
NM_004035.7(ACOX1):c.339C>T (p.His113=) rs368106231 0.00033
NM_015166.4(MLC1):c.598-9C>T rs200463656 0.00033
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) rs140724142 0.00033
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585 0.00033
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000128.4(F11):c.1305-5C>T rs375998777 0.00032
NM_000159.4(GCDH):c.1044C>T (p.His348=) rs140134376 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=) rs61736622 0.00032
NM_001384474.1(LOXHD1):c.4632G>A (p.Lys1544=) rs924829697 0.00032
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=) rs183390670 0.00032
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser) rs116283249 0.00032
NM_004006.3(DMD):c.94-9T>A rs3764764 0.00032
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604 0.00032
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=) rs150021522 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met) rs141697267 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn) rs147297426 0.00032
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000094.4(COL7A1):c.2679G>A (p.Ala893=) rs374261595 0.00031
NM_000094.4(COL7A1):c.6400C>T (p.Pro2134Ser) rs148638156 0.00031
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000317.3(PTS):c.17G>T (p.Gly6Val) rs138154701 0.00031
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr) rs138871311 0.00031
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) rs77053118 0.00031
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=) rs146498307 0.00031
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001174089.2(SLC4A11):c.2238C>T (p.Ser746=) rs377076488 0.00031
NM_002076.4(GNS):c.468C>T (p.Ala156=) rs147780685 0.00031
NM_002529.4(NTRK1):c.315C>T (p.Phe105=) rs6340 0.00031
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile) rs200608977 0.00031
NM_005373.3(MPL):c.1536G>A (p.Leu512=) rs137990502 0.00031
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014625.4(NPHS2):c.144C>T (p.Ser48=) rs111306764 0.00031
NM_014844.5(TECPR2):c.3294C>T (p.His1098=) rs144141409 0.00031
NM_019098.5(CNGB3):c.1936T>C (p.Leu646=) rs149119556 0.00031
NM_033305.3(VPS13A):c.3508-8T>C rs376751858 0.00031
NM_130849.4(SLC39A4):c.321C>T (p.Pro107=) rs148918238 0.00031
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00031
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_213653.4(HJV):c.387G>A (p.Pro129=) rs375878216 0.00031
NM_000094.4(COL7A1):c.6936+8T>C rs374882140 0.00030
NM_000246.4(CIITA):c.3150-6C>T rs192219239 0.00030
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435 0.00030
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880 0.00030
NM_000498.3(CYP11B2):c.801T>C (p.Gly267=) rs201063442 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg) rs367836863 0.00030
NM_004035.7(ACOX1):c.1287C>A (p.Leu429=) rs141015974 0.00030
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=) rs151159565 0.00030
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_138413.4(HOGA1):c.185A>T (p.His62Leu) rs150812556 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) rs148033080 0.00030
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700 0.00029
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149 0.00029
NM_000094.4(COL7A1):c.7825A>G (p.Ile2609Val) rs201839881 0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249 0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000360.4(TH):c.91-891G>A rs371277838 0.00029
NM_000397.4(CYBB):c.6G>C (p.Gly2=) rs372462475 0.00029
NM_000486.6(AQP2):c.579C>T (p.Val193=) rs201812544 0.00029
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_001003722.2(GLE1):c.447A>G (p.Leu149=) rs148220489 0.00029
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.21522T>C (p.Asp7174=) rs185169373 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001283009.2(RTEL1):c.1037+10G>A rs368590236 0.00029
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile) rs201624771 0.00029
NM_002778.4(PSAP):c.117G>A (p.Ala39=) rs200836594 0.00029
NM_003227.4(TFR2):c.1812T>C (p.Tyr604=) rs147286030 0.00029
NM_005957.5(MTHFR):c.1281T>C (p.Ser427=) rs149533586 0.00029
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 0.00029
NM_012144.4(DNAI1):c.276G>A (p.Lys92=) rs140983343 0.00029
NM_014363.6(SACS):c.2929C>T (p.Leu977=) rs146296924 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu) rs149022686 0.00029
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_024996.7(GFM1):c.1102T>C (p.Leu368=) rs142843314 0.00029
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=) rs146468152 0.00029
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465 0.00028
NM_000094.4(COL7A1):c.7212G>A (p.Gly2404=) rs147925598 0.00028
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375 0.00028
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_002437.5(MPV17):c.156G>A (p.Leu52=) rs142493907 0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_022124.6(CDH23):c.4095C>T (p.Asp1365=) rs368582818 0.00028
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=) rs187667255 0.00028
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_001360.3(DHCR7):c.139C>T (p.Leu47=) rs140721259 0.00027
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_004006.3(DMD):c.2380+10C>T rs372330460 0.00027
NM_004006.3(DMD):c.9804A>G (p.Gln3268=) rs12690372 0.00027
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_014244.5(ADAMTS2):c.2958+7A>G rs377461767 0.00027
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=) rs147584295 0.00027
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser) rs150943866 0.00026
NM_000317.3(PTS):c.195T>C (p.Pro65=) rs143472856 0.00026
NM_000441.2(SLC26A4):c.1001+30A>G rs556184448 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_001039958.2(MESP2):c.357G>C (p.Leu119=) rs575410954 0.00026
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387 0.00026
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met) rs201137087 0.00026
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=) rs151204426 0.00026
NM_001399.5(EDA):c.464G>A (p.Arg155His) rs144403117 0.00026
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134 0.00026
NM_003227.4(TFR2):c.1242C>T (p.Phe414=) rs150883560 0.00026
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004006.3(DMD):c.1575A>G (p.Ala525=) rs144372300 0.00026
NM_004006.3(DMD):c.3433G>C (p.Val1145Leu) rs767442827 0.00026
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_014244.5(ADAMTS2):c.3012C>T (p.Thr1004=) rs571054777 0.00026
NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=) rs142721501 0.00026
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_016277.5(RAB23):c.51T>C (p.Asn17=) rs141279756 0.00026
NM_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_033305.3(VPS13A):c.516G>A (p.Pro172=) rs141109675 0.00026
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000071.3(CBS):c.33G>A (p.Gly11=) rs567323664 0.00025
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374 0.00025
NM_000094.4(COL7A1):c.3277-7A>G rs376192100 0.00025
NM_000128.4(F11):c.866-9G>A rs200218867 0.00025
NM_000169.3(GLA):c.-44C>T rs781906252 0.00025
NM_000232.5(SGCB):c.495C>T (p.Asp165=) rs142801720 0.00025
NM_000383.4(AIRE):c.507C>T (p.Ser169=) rs566659101 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_001142800.2(EYS):c.7239T>C (p.Ile2413=) rs776743787 0.00025
NM_001164508.2(NEB):c.17838G>A (p.Gln5946=) rs376199241 0.00025
NM_001174089.2(SLC4A11):c.735C>T (p.Ser245=) rs150937996 0.00025
NM_001875.5(CPS1):c.2421G>A (p.Glu807=) rs140726293 0.00025
NM_003640.5(ELP1):c.3701-6C>G rs148535504 0.00025
NM_004006.3(DMD):c.8076A>G (p.Gln2692=) rs144518527 0.00025
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys) rs369339903 0.00025
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=) rs144924117 0.00025
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00025
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=) rs148046007 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263 0.00025
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu) rs368606000 0.00024
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) rs7171673 0.00024
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=) rs145812249 0.00024
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000128.4(F11):c.126C>T (p.Ser42=) rs754973084 0.00024
NM_000137.4(FAH):c.831G>A (p.Pro277=) rs372980573 0.00024
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088 0.00024
NM_000159.4(GCDH):c.417G>A (p.Ser139=) rs201583578 0.00024
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238 0.00024
NM_000246.4(CIITA):c.1053C>T (p.Ala351=) rs147912483 0.00024
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_000359.3(TGM1):c.167C>T (p.Ala56Val) rs147479810 0.00024
NM_000390.4(CHM):c.1380T>C (p.Asp460=) rs138395490 0.00024
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_001122769.3(LCA5):c.768G>A (p.Gln256=) rs142495741 0.00024
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys) rs147483765 0.00024
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=) rs200879869 0.00024
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=) rs187238540 0.00024
NM_001875.5(CPS1):c.1200A>G (p.Lys400=) rs141545954 0.00024
NM_001876.4(CPT1A):c.171A>G (p.Ala57=) rs758539295 0.00024
NM_002435.3(MPI):c.908T>C (p.Ile303Thr) rs139866632 0.00024
NM_002437.5(MPV17):c.249G>A (p.Val83=) rs199952690 0.00024
NM_003227.4(TFR2):c.19C>T (p.Leu7=) rs367635364 0.00024
NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=) rs369538863 0.00024
NM_004006.3(DMD):c.2884C>G (p.Leu962Val) rs150959827 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505 0.00024
NM_014140.4(SMARCAL1):c.2427+9C>T rs201601053 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_014844.5(TECPR2):c.1677T>C (p.Ser559=) rs375017422 0.00024
NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=) rs200792120 0.00024
NM_014844.5(TECPR2):c.672A>G (p.Gly224=) rs138689342 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_020533.3(MCOLN1):c.1158C>T (p.Cys386=) rs139922988 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_033159.4(HYAL1):c.141C>T (p.His47=) rs147089930 0.00024
NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=) rs144477984 0.00024
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_130849.4(SLC39A4):c.723C>T (p.His241=) rs574169037 0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_178138.6(LHX3):c.441C>T (p.Thr147=) rs200521449 0.00024
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) rs141852437 0.00024
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402 0.00023
NM_000094.4(COL7A1):c.6357G>A (p.Pro2119=) rs142298581 0.00023
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000382.3(ALDH3A2):c.1108-3C>T rs148944691 0.00023
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
NM_001370658.1(BTD):c.430A>C (p.Arg144=) rs556096072 0.00023
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_004006.3(DMD):c.696C>G (p.Ile232Met) rs145668843 0.00023
NM_004006.3(DMD):c.7310-7A>G rs373230021 0.00023
NM_004006.3(DMD):c.884G>A (p.Arg295Gln) rs377587957 0.00023
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00023
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=) rs145016043 0.00023
NM_014844.5(TECPR2):c.3246G>C (p.Gly1082=) rs373876214 0.00023
NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=) rs376614211 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) rs143449578 0.00023
NM_054012.4(ASS1):c.240C>T (p.Ser80=) rs147910468 0.00023
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) rs201681875 0.00023
NM_174878.3(CLRN1):c.660C>T (p.Asp220=) rs148752352 0.00023
NM_213653.4(HJV):c.435G>C (p.Pro145=) rs370184725 0.00023
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179 0.00022
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716 0.00022
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106 0.00022
NM_000237.3(LPL):c.687T>C (p.His229=) rs45607438 0.00022
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_000289.6(PFKM):c.1653+8C>T rs369425921 0.00022
NM_000359.3(TGM1):c.876+10G>A rs201936986 0.00022
NM_000383.4(AIRE):c.912C>T (p.Asp304=) rs149769247 0.00022
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=) rs199578945 0.00022
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_003227.4(TFR2):c.447G>A (p.Gly149=) rs41302366 0.00022
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_004006.3(DMD):c.9287-8C>T rs371035624 0.00022
NM_004646.4(NPHS1):c.126G>T (p.Thr42=) rs145683325 0.00022
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_020320.5(RARS2):c.1512-6T>C rs185924037 0.00022
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00022
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_057176.3(BSND):c.237C>T (p.Gly79=) rs528075528 0.00022
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=) rs189574905 0.00021
NM_000103.4(CYP19A1):c.639C>T (p.Ile213=) rs147160979 0.00021
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280 0.00021
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356 0.00021
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566 0.00021
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848 0.00021
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) rs148205451 0.00021
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001142800.2(EYS):c.8916T>C (p.Tyr2972=) rs867410198 0.00021
NM_001174089.2(SLC4A11):c.2136C>T (p.His712=) rs368894887 0.00021
NM_001174089.2(SLC4A11):c.495C>T (p.Thr165=) rs148099705 0.00021
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=) rs201924342 0.00021
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001875.5(CPS1):c.234A>G (p.Gly78=) rs182678639 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_002437.5(MPV17):c.31C>T (p.Leu11=) rs540291444 0.00021
NM_003227.4(TFR2):c.1640A>T (p.Tyr547Phe) rs573769443 0.00021
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257 0.00021
NM_003659.4(AGPS):c.951C>T (p.Arg317=) rs146526791 0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_014244.5(ADAMTS2):c.2271C>T (p.Asp757=) rs137875904 0.00021
NM_014244.5(ADAMTS2):c.3552G>A (p.Pro1184=) rs185794582 0.00021
NM_014249.4(NR2E3):c.1233G>A (p.Ter411=) rs377154860 0.00021
NM_014844.5(TECPR2):c.2280C>T (p.His760=) rs61744796 0.00021
NM_015166.4(MLC1):c.76G>A (p.Ala26Thr) rs201522059 0.00021
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_033305.3(VPS13A):c.621C>T (p.Ile207=) rs146941948 0.00021
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=) rs372505008 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000049.4(ASPA):c.621T>C (p.His207=) rs369805590 0.00020
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012 0.00020
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00020
NM_000094.4(COL7A1):c.1043G>A (p.Arg348Gln) rs200570283 0.00020
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 0.00020
NM_000182.5(HADHA):c.864A>G (p.Glu288=) rs372425837 0.00020
NM_000195.5(HPS1):c.1801C>T (p.Leu601=) rs368146160 0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000359.3(TGM1):c.60T>C (p.Pro20=) rs145812304 0.00020
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536 0.00020
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_001003722.2(GLE1):c.643-4A>G rs369804957 0.00020
NM_001039958.2(MESP2):c.355C>T (p.Leu119=) rs373605220 0.00020
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser) rs181890907 0.00020
NM_001142800.2(EYS):c.8178T>C (p.Pro2726=) rs767955491 0.00020
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=) rs140564753 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00020
NM_004006.3(DMD):c.1809G>A (p.Leu603=) rs192176661 0.00020
NM_004006.3(DMD):c.3666T>C (p.Asn1222=) rs373281760 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.7521C>T (p.Asn2507=) rs112516305 0.00020
NM_004035.7(ACOX1):c.72C>T (p.Asp24=) rs117585420 0.00020
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_020533.3(MCOLN1):c.1152C>T (p.Asp384=) rs147455130 0.00020
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_054012.4(ASS1):c.765C>T (p.Asn255=) rs375579096 0.00020
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NM_000016.6(ACADM):c.468+62C>T rs875989870 0.00019
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535 0.00019
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000094.4(COL7A1):c.7758+10G>A rs371927547 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000243.3(MEFV):c.1038C>G (p.Gly346=) rs141090517 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_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=) rs369449821 0.00019
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001017420.3(ESCO2):c.382G>A (p.Gly128Arg) rs143828675 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574 0.00019
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001283009.2(RTEL1):c.1349-9G>A rs772899702 0.00019
NM_001283009.2(RTEL1):c.396-18G>A rs200598131 0.00019
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg) rs373366352 0.00019
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196 0.00019
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln) rs11568423 0.00019
NM_004006.3(DMD):c.2166A>G (p.Lys722=) rs147580966 0.00019
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00019
NM_004006.3(DMD):c.4072-3T>C rs751657094 0.00019
NM_004006.3(DMD):c.6471T>A (p.Thr2157=) rs377080659 0.00019
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) rs200833797 0.00019
NM_004035.7(ACOX1):c.877C>T (p.Leu293=) rs368271580 0.00019
NM_004646.4(NPHS1):c.3243C>T (p.Val1081=) rs370276697 0.00019
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=) rs757215612 0.00019
NM_005726.6(TSFM):c.726G>A (p.Thr242=) rs140461538 0.00019
NM_005957.5(MTHFR):c.513C>A (p.Gly171=) rs150963282 0.00019
NM_005957.5(MTHFR):c.870C>T (p.Asn290=) rs141769179 0.00019
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_006623.4(PHGDH):c.411+9C>T rs187075075 0.00019
NM_012203.2(GRHPR):c.381G>A (p.Pro127=) rs151336686 0.00019
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=) rs202247664 0.00019
NM_022124.6(CDH23):c.4542G>A (p.Gln1514=) rs559831834 0.00019
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850 0.00019
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=) rs575051014 0.00019
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00019
NM_153006.3(NAGS):c.210C>G (p.Ser70=) rs570583859 0.00019
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=) rs368345065 0.00019
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 0.00019
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626 0.00018
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00018
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=) rs199839937 0.00018
NM_000094.4(COL7A1):c.2622C>T (p.His874=) rs368634417 0.00018
NM_000094.4(COL7A1):c.6502-10C>G rs200193957 0.00018
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162 0.00018
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021 0.00018
NM_000170.3(GLDC):c.1581-5C>T rs184463452 0.00018
NM_000246.4(CIITA):c.567G>A (p.Ala189=) rs143123121 0.00018
NM_000274.4(OAT):c.915G>T (p.Leu305=) rs1249516048 0.00018
NM_000330.4(RS1):c.285G>A (p.Ser95=) rs143920122 0.00018
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=) rs140636367 0.00018
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=) rs137855767 0.00018
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471 0.00018
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=) rs201028861 0.00018
NM_001384474.1(LOXHD1):c.6220T>C (p.Leu2074=) rs185604776 0.00018
NM_002454.3(MTRR):c.904-4C>G rs370809675 0.00018
NM_002529.4(NTRK1):c.927G>A (p.Pro309=) rs144015813 0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458 0.00018
NM_003640.5(ELP1):c.1075C>T (p.Leu359=) rs2230789 0.00018
NM_003640.5(ELP1):c.2916C>T (p.Asn972=) rs752886385 0.00018
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) rs202008454 0.00018
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser) rs199588981 0.00018
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu) rs148135406 0.00018
NM_004006.3(DMD):c.94-3C>T rs373907950 0.00018
NM_004035.7(ACOX1):c.465G>A (p.Thr155=) rs148934573 0.00018
NM_005609.4(PYGM):c.72C>T (p.Asn24=) rs757114579 0.00018
NM_006261.5(PROP1):c.385C>T (p.Arg129Cys) rs140207251 0.00018
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566 0.00018
NM_014244.5(ADAMTS2):c.912C>T (p.Asp304=) rs147197558 0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_020320.5(RARS2):c.6G>A (p.Ala2=) rs371542506 0.00018
NM_022124.6(CDH23):c.3431-6A>T rs377614198 0.00018
NM_025216.3(WNT10A):c.534A>G (p.Gln178=) rs746227205 0.00018
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys) rs149384350 0.00018
NM_033305.3(VPS13A):c.6558T>C (p.Val2186=) rs112596608 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_178138.6(LHX3):c.534C>T (p.Thr178=) rs564712080 0.00018
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389 0.00017
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=) rs184776061 0.00017
NM_000094.4(COL7A1):c.3038A>T (p.Gln1013Leu) rs534667037 0.00017
NM_000128.4(F11):c.1255T>A (p.Ser419Thr) rs568173895 0.00017
NM_000133.4(F9):c.1029C>T (p.Asn343=) rs145026483 0.00017
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000170.3(GLDC):c.2352C>T (p.Pro784=) rs367781728 0.00017
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115 0.00017
NM_000441.2(SLC26A4):c.919-18T>G rs767147359 0.00017
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln) rs140167865 0.00017
NM_000520.6(HEXA):c.517C>T (p.Leu173=) rs200743199 0.00017
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146 0.00017
NM_001384474.1(LOXHD1):c.5658C>T (p.Ser1886=) rs571456548 0.00017
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile) rs142133195 0.00017
NM_004006.3(DMD):c.5076A>G (p.Thr1692=) rs145181319 0.00017
NM_004268.5(MED17):c.429G>A (p.Thr143=) rs143585935 0.00017
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=) rs367848204 0.00017
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val) rs142072030 0.00017
NM_032383.5(HPS3):c.1769G>A (p.Arg590His) rs145158238 0.00017
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly) rs200348997 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) rs150202544 0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_000091.5(COL4A3):c.1362A>T (p.Pro454=) rs377373374 0.00016
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn) rs143562020 0.00016
NM_000128.4(F11):c.1843G>A (p.Val615Met) rs202061241 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_000137.4(FAH):c.150T>C (p.Phe50=) rs186471906 0.00016
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627 0.00016
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=) rs370732845 0.00016
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=) rs143038843 0.00016
NM_000202.8(IDS):c.41G>A (p.Gly14Asp) rs373389352 0.00016
NM_000246.4(CIITA):c.2408C>T (p.Ala803Val) rs577781366 0.00016
NM_000246.4(CIITA):c.471C>T (p.His157=) rs149990869 0.00016
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=) rs371789765 0.00016
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316 0.00016
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000383.4(AIRE):c.180C>T (p.His60=) rs201591958 0.00016
NM_000383.4(AIRE):c.908G>A (p.Arg303Gln) rs139808903 0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_000492.4(CFTR):c.-4G>C rs369326781 0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057 0.00016
NM_001033855.3(DCLRE1C):c.1287G>C (p.Leu429=) rs115081573 0.00016
NM_001039958.2(MESP2):c.183C>T (p.Ser61=) rs753168674 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=) rs368217121 0.00016
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541 0.00016
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=) rs146374856 0.00016
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=) rs559560065 0.00016
NM_001953.5(TYMP):c.1242G>A (p.Pro414=) rs1013301590 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_003384.3(VRK1):c.216+8A>G rs369680885 0.00016
NM_003384.3(VRK1):c.906C>T (p.Tyr302=) rs528346065 0.00016
NM_003640.5(ELP1):c.3477C>T (p.His1159=) rs141257064 0.00016
NM_004006.3(DMD):c.8974G>A (p.Val2992Met) rs201691420 0.00016
NM_005957.5(MTHFR):c.762C>T (p.Pro254=) rs200789362 0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
NM_014049.5(ACAD9):c.1020A>G (p.Gly340=) rs138401844 0.00016
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_019098.5(CNGB3):c.474C>T (p.Pro158=) rs151230930 0.00016
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00016
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=) rs531326479 0.00016
NM_033159.4(HYAL1):c.600C>A (p.Gly200=) rs374928005 0.00016
NM_054012.4(ASS1):c.174+4C>A rs368133957 0.00016
NM_057176.3(BSND):c.9C>T (p.Asp3=) rs141111550 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.3083-9C>T rs376659281 0.00016
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00016
NM_205861.3(DHDDS):c.564T>C (p.Leu188=) rs371976956 0.00016
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000094.4(COL7A1):c.3816C>T (p.Gly1272=) rs138190232 0.00015
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro) rs755340663 0.00015
NM_000094.4(COL7A1):c.630C>T (p.Leu210=) rs117857033 0.00015
NM_000094.4(COL7A1):c.6312T>G (p.Ser2104=) rs142907473 0.00015
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753 0.00015
NM_000159.4(GCDH):c.735C>T (p.Leu245=) rs372678445 0.00015
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087 0.00015
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000271.5(NPC1):c.2088T>C (p.Ala696=) rs377179697 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000383.4(AIRE):c.936C>T (p.Asp312=) rs147889221 0.00015
NM_000390.4(CHM):c.1255A>G (p.Ile419Val) rs140093046 0.00015
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) rs201446793 0.00015
NM_000441.2(SLC26A4):c.1995A>C (p.Ile665=) rs185493402 0.00015
NM_000492.4(CFTR):c.2424T>C (p.Tyr808=) rs143954792 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=) rs139390622 0.00015
NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu) rs575678692 0.00015
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) rs146832860 0.00015
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611 0.00015
NM_001164508.2(NEB):c.4305G>A (p.Val1435=) rs111241479 0.00015
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002 0.00015
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814 0.00015
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr) rs17848882 0.00015
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=) rs779507390 0.00015
NM_001384474.1(LOXHD1):c.6777G>A (p.Lys2259=) rs764655234 0.00015
NM_004006.3(DMD):c.1707C>T (p.Cys569=) rs142029039 0.00015
NM_004006.3(DMD):c.2575A>T (p.Thr859Ser) rs187926894 0.00015
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_004006.3(DMD):c.9649+8G>A rs373703618 0.00015
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser) rs372069596 0.00015
NM_005609.4(PYGM):c.558C>T (p.Tyr186=) rs144298015 0.00015
NM_006019.4(TCIRG1):c.942G>A (p.Thr314=) rs764846667 0.00015
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp) rs200363064 0.00015
NM_019098.5(CNGB3):c.12G>A (p.Ser4=) rs139284415 0.00015
NM_020533.3(MCOLN1):c.572-8G>A rs373636467 0.00015
NM_020533.3(MCOLN1):c.878-4G>A rs201492918 0.00015
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484 0.00015
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=) rs140674740 0.00015
NM_152443.3(RDH12):c.384A>G (p.Val128=) rs139881477 0.00015
NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=) rs373550277 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161 0.00015
NM_206933.4(USH2A):c.2460T>C (p.Asn820=) rs781373128 0.00015
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala) rs138574386 0.00015
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=) rs372423505 0.00014
NM_000091.5(COL4A3):c.3751+7G>A rs750554079 0.00014
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=) rs369839378 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000151.4(G6PC1):c.942C>G (p.Pro314=) rs141352548 0.00014
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00014
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_000231.3(SGCG):c.438C>T (p.Asp146=) rs144497243 0.00014
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000246.4(CIITA):c.1791C>G (p.Leu597=) rs201657235 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000359.3(TGM1):c.216G>A (p.Gly72=) rs771277378 0.00014
NM_000359.3(TGM1):c.540C>T (p.His180=) rs145981439 0.00014
NM_000391.4(TPP1):c.330G>A (p.Lys110=) rs145853102 0.00014
NM_000466.3(PEX1):c.159C>T (p.His53=) rs200950057 0.00014
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052 0.00014
NM_001079866.2(BCS1L):c.612C>T (p.Asp204=) rs201726747 0.00014
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=) rs183011135 0.00014
NM_001122769.3(LCA5):c.222A>T (p.Pro74=) rs148386543 0.00014
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) rs61746816 0.00014
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001174089.2(SLC4A11):c.1575C>T (p.Gly525=) rs367716152 0.00014
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688 0.00014
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130 0.00014
NM_001283009.2(RTEL1):c.1713G>A (p.Glu571=) rs141229183 0.00014
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=) rs368456533 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_002435.3(MPI):c.977C>G (p.Pro326Arg) rs199956743 0.00014
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln) rs138843050 0.00014
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=) rs150457229 0.00014
NM_003640.5(ELP1):c.1830C>T (p.Thr610=) rs113048987 0.00014
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_003640.5(ELP1):c.348T>C (p.Ser116=) rs2230787 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004006.3(DMD):c.1603-4C>A rs377223643 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004006.3(DMD):c.4605G>A (p.Thr1535=) rs374871728 0.00014
NM_004006.3(DMD):c.4876G>A (p.Val1626Met) rs776998846 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004006.3(DMD):c.7578G>A (p.Gln2526=) rs142236825 0.00014
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) rs774049893 0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_004646.4(NPHS1):c.1233C>T (p.Asn411=) rs374218631 0.00014
NM_005476.7(GNE):c.21C>T (p.Asn7=) rs774610596 0.00014
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319 0.00014
NM_014244.5(ADAMTS2):c.161C>T (p.Ala54Val) rs368221089 0.00014
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_014244.5(ADAMTS2):c.975+8C>T rs369740542 0.00014
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr) rs150615169 0.00014
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) rs77226826 0.00014
NM_016955.4(SEPSECS):c.84T>C (p.His28=) rs532571185 0.00014
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00014
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn) rs145191057 0.00014
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00014
NM_025216.3(WNT10A):c.775C>A (p.Arg259=) rs576855744 0.00014
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile) rs189718498 0.00014
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628 0.00014
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716 0.00014
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser) rs148108992 0.00014
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152564.5(VPS13B):c.1843+10T>C rs371154826 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) rs368883473 0.00014
NM_201525.4(ADGRG1):c.1287-6G>A rs112805221 0.00014
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000023.4(SGCA):c.819G>T (p.Pro273=) rs35972733 0.00013
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328 0.00013
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_000070.3(CAPN3):c.897C>A (p.Leu299=) rs370313391 0.00013
NM_000071.3(CBS):c.133C>T (p.Arg45Trp) rs201372812 0.00013
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=) rs144756110 0.00013
NM_000133.4(F9):c.250A>G (p.Thr84Ala) rs201120367 0.00013
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000202.8(IDS):c.507+6G>T rs370769925 0.00013
NM_000237.3(LPL):c.528C>G (p.Val176=) rs199606532 0.00013
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_000274.4(OAT):c.736C>T (p.Leu246=) rs146882296 0.00013
NM_000397.4(CYBB):c.675-4C>T rs782223666 0.00013
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000531.6(OTC):c.390A>G (p.Val130=) rs149795059 0.00013
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=) rs200713586 0.00013
NM_001164508.2(NEB):c.17898G>A (p.Pro5966=) rs376655029 0.00013
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=) rs141079217 0.00013
NM_001369.3(DNAH5):c.2760A>G (p.Gly920=) rs763731693 0.00013
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=) rs754938453 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) rs200504529 0.00013
NM_002454.3(MTRR):c.138A>G (p.Leu46=) rs200682655 0.00013
NM_003227.4(TFR2):c.1863C>T (p.Ala621=) rs374489702 0.00013
NM_003640.5(ELP1):c.-64G>A rs575166769 0.00013
NM_003907.3(EIF2B5):c.1920C>T (p.Ala640=) rs149329097 0.00013
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=) rs139270936 0.00013
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln) rs141151675 0.00013
NM_004006.3(DMD):c.7244G>A (p.Arg2415His) rs373749120 0.00013
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg) rs144103124 0.00013
NM_004006.3(DMD):c.8027+7A>T rs72466580 0.00013
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys) rs745868830 0.00013
NM_004006.3(DMD):c.8706G>A (p.Arg2902=) rs899851642 0.00013
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val) rs201782441 0.00013
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=) rs61754844 0.00013
NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=) rs138580383 0.00013
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640 0.00013
NM_014844.5(TECPR2):c.1248C>T (p.Thr416=) rs144313788 0.00013
NM_019098.5(CNGB3):c.1833C>T (p.His611=) rs368787128 0.00013
NM_019098.5(CNGB3):c.715C>T (p.Arg239Cys) rs200019416 0.00013
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) rs369176493 0.00013
NM_022124.6(CDH23):c.5055C>T (p.Ile1685=) rs377269771 0.00013
NM_033305.3(VPS13A):c.126A>G (p.Gln42=) rs140518771 0.00013
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=) rs148754839 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) rs146873772 0.00013
NM_054012.4(ASS1):c.549G>A (p.Glu183=) rs747401210 0.00013
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) rs201342416 0.00013
NM_133259.4(LRPPRC):c.2392T>C (p.Leu798=) rs373554506 0.00013
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=) rs782093609 0.00012
NM_000133.4(F9):c.768C>T (p.Ile256=) rs758909063 0.00012
NM_000137.4(FAH):c.1077C>T (p.Phe359=) rs145570259 0.00012
NM_000151.4(G6PC1):c.948C>A (p.Ser316=) rs137978566 0.00012
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001 0.00012
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) rs768146409 0.00012
NM_000246.4(CIITA):c.648G>A (p.Ser216=) rs374843831 0.00012
NM_000359.3(TGM1):c.885C>T (p.His295=) rs186352813 0.00012
NM_000360.4(TH):c.91-896G>A rs376736869 0.00012
NM_000390.4(CHM):c.1713C>T (p.Asn571=) rs142340268 0.00012
NM_000397.4(CYBB):c.969A>G (p.Gln323=) rs144764222 0.00012
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=) rs150190899 0.00012
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059 0.00012
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125 0.00012
NM_000531.6(OTC):c.534G>A (p.Thr178=) rs775895740 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001113525.2(ZNF276):c.*1313A>G rs368376237 0.00012
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=) rs141642284 0.00012
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116 0.00012
NM_001142800.2(EYS):c.2199C>T (p.Asp733=) rs769923713 0.00012
NM_001164508.2(NEB):c.780A>G (p.Pro260=) rs80255720 0.00012
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser) rs150686112 0.00012
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=) rs375993195 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001399.5(EDA):c.390G>T (p.Gly130=) rs143746851 0.00012
NM_001673.5(ASNS):c.288G>A (p.Val96=) rs554805942 0.00012
NM_003227.4(TFR2):c.1305A>G (p.Ala435=) rs372014293 0.00012
NM_003384.3(VRK1):c.759A>G (p.Gln253=) rs150534939 0.00012
NM_003640.5(ELP1):c.2205-7C>T rs148221146 0.00012
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004006.3(DMD):c.2352T>C (p.Ala784=) rs142006072 0.00012
NM_004006.3(DMD):c.9033G>A (p.Pro3011=) rs774722438 0.00012
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118 0.00012
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=) rs751122020 0.00012
NM_014363.6(SACS):c.4998A>G (p.Thr1666=) rs184994682 0.00012
NM_019098.5(CNGB3):c.459A>C (p.Gly153=) rs149945278 0.00012
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091 0.00012
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=) rs41311553 0.00012
NM_033380.3(COL4A5):c.4315+9A>T rs764116323 0.00012
NM_130849.4(SLC39A4):c.591C>T (p.His197=) rs200819089 0.00012
NM_138694.4(PKHD1):c.10797C>T (p.His3599=) rs577357613 0.00012
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=) rs557162970 0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_152564.5(VPS13B):c.10980C>T (p.Gly3660=) rs142939294 0.00012
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_153006.3(NAGS):c.939C>T (p.Pro313=) rs749692636 0.00012
NM_000018.4(ACADVL):c.*8C>T rs370513576 0.00011
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245 0.00011
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163 0.00011
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=) rs370231427 0.00011
NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala) rs775742866 0.00011
NM_000091.5(COL4A3):c.4449C>T (p.His1483=) rs140672401 0.00011
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000094.4(COL7A1):c.8094C>T (p.Gly2698=) rs199936185 0.00011
NM_000094.4(COL7A1):c.945C>T (p.Ile315=) rs761431565 0.00011
NM_000098.3(CPT2):c.1428G>A (p.Leu476=) rs149557870 0.00011
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000133.4(F9):c.1143A>G (p.Thr381=) rs761784613 0.00011
NM_000133.4(F9):c.114C>T (p.Asn38=) rs745353370 0.00011
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000137.4(FAH):c.996C>T (p.His332=) rs182877963 0.00011
NM_000158.4(GBE1):c.1722T>C (p.Leu574=) rs367905308 0.00011
NM_000159.4(GCDH):c.552C>T (p.Ser184=) rs144887422 0.00011
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000170.3(GLDC):c.1926+6T>C rs200007891 0.00011
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493 0.00011
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=) rs587675471 0.00011
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_000206.3(IL2RG):c.1002G>A (p.Glu334=) rs376679881 0.00011
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) rs201182990 0.00011
NM_000246.4(CIITA):c.300A>G (p.Glu100=) rs578099843 0.00011
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.639C>T (p.Phe213=) rs540197003 0.00011
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000383.4(AIRE):c.1158C>T (p.Ala386=) rs199555518 0.00011
NM_000383.4(AIRE):c.1200G>A (p.Pro400=) rs377627680 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_000383.4(AIRE):c.705G>A (p.Lys235=) rs145255118 0.00011
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933 0.00011
NM_000478.6(ALPL):c.1014C>T (p.His338=) rs147688908 0.00011
NM_000487.6(ARSA):c.972C>T (p.Ile324=) rs200567315 0.00011
NM_000489.6(ATRX):c.820T>C (p.Leu274=) rs146012355 0.00011
NM_000492.4(CFTR):c.738G>A (p.Lys246=) rs35033453 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.534C>T (p.Ile178=) rs142147633 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001126108.2(SLC12A3):c.1453G>A (p.Glu485Lys) rs201804135 0.00011
NM_001130987.2(DYSF):c.5884+6C>T rs144355449 0.00011
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021 0.00011
NM_001174089.2(SLC4A11):c.2388+7G>A rs117959552 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_001365088.1(SLC12A6):c.319G>A (p.Asp107Asn) rs781088641 0.00011
NM_001370658.1(BTD):c.603C>T (p.Phe201=) rs142418812 0.00011
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=) rs184736482 0.00011
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 0.00011
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003659.4(AGPS):c.157C>T (p.Leu53=) rs77810072 0.00011
NM_003907.3(EIF2B5):c.196-9A>C rs374801184 0.00011
NM_004006.3(DMD):c.*15A>G rs149405184 0.00011
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=) rs782114947 0.00011
NM_005957.5(MTHFR):c.726A>G (p.Ala242=) rs45459991 0.00011
NM_006096.4(NDRG1):c.285C>T (p.Asp95=) rs777855380 0.00011
NM_013339.4(ALG6):c.1032T>C (p.His344=) rs146265933 0.00011
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) rs372995559 0.00011
NM_014249.4(NR2E3):c.51G>A (p.Ala17=) rs753463414 0.00011
NM_014251.3(SLC25A13):c.1170G>T (p.Leu390=) rs377724262 0.00011
NM_014363.6(SACS):c.12451C>T (p.Leu4151=) rs780701057 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014844.5(TECPR2):c.3882C>T (p.Thr1294=) rs145556234 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=) rs200861036 0.00011
NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=) rs201860210 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_033305.3(VPS13A):c.846G>A (p.Glu282=) rs376954549 0.00011
NM_130849.4(SLC39A4):c.294C>T (p.Ala98=) rs376920807 0.00011
NM_138413.4(HOGA1):c.594C>T (p.Ser198=) rs374733151 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.8107+8T>G rs368339881 0.00011
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00011
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315 0.00011
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) rs372015149 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000033.4(ABCD1):c.108G>A (p.Val36=) rs368718078 0.00010
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220 0.00010
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr) rs745866259 0.00010
NM_000057.4(BLM):c.2598A>T (p.Val866=) rs574053990 0.00010
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) rs147148171 0.00010
NM_000071.3(CBS):c.151A>C (p.Arg51=) rs754759237 0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=) rs370514077 0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=) rs752638078 0.00010
NM_000094.4(COL7A1):c.520+9C>T rs368959634 0.00010
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808 0.00010
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473 0.00010
NM_000098.3(CPT2):c.1251C>T (p.Phe417=) rs576822710 0.00010
NM_000108.5(DLD):c.876-6A>T rs199944006 0.00010
NM_000133.4(F9):c.769G>A (p.Val257Ile) rs200608775 0.00010
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581 0.00010
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_000135.4(FANCA):c.3711C>G (p.Val1237=) rs776879032 0.00010
NM_000135.4(FANCA):c.634A>C (p.Arg212=) rs754839730 0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383 0.00010
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000206.3(IL2RG):c.912C>T (p.His304=) rs145282692 0.00010
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319 0.00010
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533 0.00010
NM_000330.4(RS1):c.88G>A (p.Glu30Lys) rs146477940 0.00010
NM_000359.3(TGM1):c.297A>G (p.Ala99=) rs41295340 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000517.6(HBA2):c.375C>G (p.Ser125=) rs775058691 0.00010
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 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_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001164508.2(NEB):c.1182A>C (p.Thr394=) rs186233985 0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644 0.00010
NM_001174089.2(SLC4A11):c.1992C>T (p.Ala664=) rs146674129 0.00010
NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=) rs367721824 0.00010
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) rs201052209 0.00010
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320 0.00010
NM_001283009.2(RTEL1):c.2721G>A (p.Leu907=) rs763364387 0.00010
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn) rs139697458 0.00010
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile) rs183589811 0.00010
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=) rs145374203 0.00010
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=) rs557097410 0.00010
NM_001369.3(DNAH5):c.13410G>A (p.Ser4470=) rs368920785 0.00010
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=) rs199951976 0.00010
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=) rs144955298 0.00010
NM_001384474.1(LOXHD1):c.3144C>A (p.Gly1048=) rs141514234 0.00010
NM_001386140.1(MTTP):c.1149T>C (p.Ser383=) rs374820674 0.00010
NM_001876.4(CPT1A):c.1092G>A (p.Gln364=) rs199640034 0.00010
NM_001876.4(CPT1A):c.390C>T (p.Leu130=) rs188016546 0.00010
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn) rs140020076 0.00010
NM_003227.4(TFR2):c.120C>T (p.Asp40=) rs370005999 0.00010
NM_003640.5(ELP1):c.3750A>G (p.Glu1250=) rs149038322 0.00010
NM_003907.3(EIF2B5):c.840G>A (p.Glu280=) rs138820746 0.00010
NM_004004.6(GJB2):c.675A>T (p.Pro225=) rs563151740 0.00010
NM_004006.3(DMD):c.3432+10A>G rs746260475 0.00010
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser) rs200213555 0.00010
NM_004006.3(DMD):c.5026-7A>G rs398123976 0.00010
NM_004006.3(DMD):c.5048C>G (p.Thr1683Ser) rs146420425 0.00010
NM_004006.3(DMD):c.606C>T (p.Ile202=) rs138335295 0.00010
NM_004006.3(DMD):c.6143G>A (p.Ser2048Asn) rs200494003 0.00010
NM_004006.3(DMD):c.6414T>C (p.His2138=) rs753999355 0.00010
NM_004006.3(DMD):c.6614+8G>A rs377508818 0.00010
NM_004006.3(DMD):c.7323T>C (p.Thr2441=) rs201919981 0.00010
NM_004006.3(DMD):c.7596C>T (p.Thr2532=) rs778412539 0.00010
NM_004006.3(DMD):c.8852G>A (p.Arg2951His) rs72466567 0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_005055.5(RAPSN):c.864G>A (p.Ala288=) rs147966227 0.00010
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_006261.5(PROP1):c.311G>A (p.Arg104Gln) rs369390421 0.00010
NM_007259.5(VPS45):c.897A>G (p.Pro299=) rs184193549 0.00010
NM_012243.3(SLC35A3):c.483G>A (p.Gln161=) rs370315911 0.00010
NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=) rs142314193 0.00010
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
NM_014244.5(ADAMTS2):c.814C>T (p.Leu272=) rs531768193 0.00010
NM_014249.4(NR2E3):c.372G>A (p.Pro124=) rs561598022 0.00010
NM_014363.6(SACS):c.1464G>A (p.Pro488=) rs375352514 0.00010
NM_015166.4(MLC1):c.95C>T (p.Ala32Val) rs200382943 0.00010
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800 0.00010
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
NM_024312.5(GNPTAB):c.2559A>C (p.Thr853=) rs754863486 0.00010
NM_024312.5(GNPTAB):c.2748C>T (p.Tyr916=) rs143931833 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_025215.6(PUS1):c.111C>T (p.Pro37=) rs543944505 0.00010
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_032520.5(GNPTG):c.479C>T (p.Ala160Val) rs374470431 0.00010
NM_033305.3(VPS13A):c.2889G>A (p.Thr963=) rs776098236 0.00010
NM_033380.3(COL4A5):c.4217-6C>T rs764326196 0.00010
NM_033380.3(COL4A5):c.568A>G (p.Ile190Val) rs367890539 0.00010
NM_033380.3(COL4A5):c.861G>A (p.Glu287=) rs41300173 0.00010
NM_130849.4(SLC39A4):c.297C>T (p.Ala99=) rs369212608 0.00010
NM_133259.4(LRPPRC):c.888C>T (p.Ser296=) rs762093225 0.00010
NM_138413.4(HOGA1):c.934G>A (p.Ala312Thr) rs115431683 0.00010
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=) rs781485612 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_182894.3(VSX2):c.564G>A (p.Pro188=) rs201354547 0.00010
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284 0.00010
NM_206933.4(USH2A):c.14892C>T (p.Tyr4964=) rs149877542 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=) rs200525258 0.00010
NM_000018.4(ACADVL):c.114G>C (p.Arg38=) rs777380964 0.00009
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646 0.00009
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=) rs781935761 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090 0.00009
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325 0.00009
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000094.4(COL7A1):c.3432C>T (p.Tyr1144=) rs199679633 0.00009
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile) rs72559703 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_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000152.5(GAA):c.1818C>T (p.His606=) rs374368644 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000154.2(GALK1):c.60C>T (p.Phe20=) rs556192480 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304 0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00009
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626 0.00009
NM_000206.3(IL2RG):c.459C>T (p.Ile153=) rs150560580 0.00009
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met) rs375921454 0.00009
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln) rs776289036 0.00009
NM_000260.4(MYO7A):c.2316A>G (p.Thr772=) rs369466539 0.00009
NM_000260.4(MYO7A):c.3987C>T (p.Tyr1329=) rs560284703 0.00009
NM_000260.4(MYO7A):c.4442-7G>A rs372023062 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708 0.00009
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561 0.00009
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=) rs17846762 0.00009
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031 0.00009
NM_000360.4(TH):c.51C>T (p.Ala17=) rs199645400 0.00009
NM_000383.4(AIRE):c.615C>T (p.Ala205=) rs143784684 0.00009
NM_000396.4(CTSK):c.22C>T (p.Leu8=) rs138360770 0.00009
NM_000396.4(CTSK):c.244-10_244-8del rs774922287 0.00009
NM_000397.4(CYBB):c.142-12C>T rs13306298 0.00009
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585 0.00009
NM_000487.6(ARSA):c.1297C>G (p.Leu433Val) rs201693608 0.00009
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=) rs149484019 0.00009
NM_000531.6(OTC):c.675G>A (p.Pro225=) rs376129619 0.00009
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929 0.00009
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr) rs368567109 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_001130987.2(DYSF):c.2700T>C (p.Tyr900=) rs149979662 0.00009
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=) rs143775913 0.00009
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526 0.00009
NM_001142800.2(EYS):c.8181C>T (p.Leu2727=) rs369121423 0.00009
NM_001164508.2(NEB):c.9345C>T (p.His3115=) rs367739638 0.00009
NM_001283009.2(RTEL1):c.1626G>A (p.Gly542=) rs140629792 0.00009
NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=) rs147245368 0.00009
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) rs147850435 0.00009
NM_001360.3(DHCR7):c.15G>A (p.Ser5=) rs147038941 0.00009
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=) rs149580135 0.00009
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg) rs553786370 0.00009
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=) rs150784450 0.00009
NM_001384140.1(PCDH15):c.2751+9T>C rs180804907 0.00009
NM_001384474.1(LOXHD1):c.6666G>A (p.Glu2222=) rs1030153414 0.00009
NM_001384474.1(LOXHD1):c.834C>T (p.Asp278=) rs112969644 0.00009
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) rs756998920 0.00009
NM_004006.3(DMD):c.2557T>C (p.Leu853=) rs150387101 0.00009
NM_004006.3(DMD):c.3270G>A (p.Gln1090=) rs373475857 0.00009
NM_004006.3(DMD):c.530+7A>T rs72470523 0.00009
NM_004006.3(DMD):c.9888C>T (p.Pro3296=) rs146543659 0.00009
NM_004646.4(NPHS1):c.1308C>T (p.Asn436=) rs372707993 0.00009
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133 0.00009
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_006096.4(NDRG1):c.663C>T (p.Pro221=) rs377225752 0.00009
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile) rs200037593 0.00009
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=) rs565316605 0.00009
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683 0.00009
NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=) rs374590440 0.00009
NM_014249.4(NR2E3):c.843C>T (p.Pro281=) rs555211505 0.00009
NM_014363.6(SACS):c.10221A>G (p.Leu3407=) rs143243372 0.00009
NM_014844.5(TECPR2):c.1173G>A (p.Thr391=) rs747637703 0.00009
NM_014844.5(TECPR2):c.1926C>T (p.Val642=) rs770279871 0.00009
NM_014844.5(TECPR2):c.318T>C (p.Leu106=) rs769086551 0.00009
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=) rs371992324 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_015627.3(LDLRAP1):c.141G>A (p.Leu47=) rs543454612 0.00009
NM_017739.4(POMGNT1):c.747A>G (p.Ala249=) rs774008151 0.00009
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_019098.5(CNGB3):c.1149T>C (p.Thr383=) rs554368357 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser) rs562052236 0.00009
NM_022124.6(CDH23):c.7245G>A (p.Val2415=) rs751865337 0.00009
NM_023036.6(DNAI2):c.1485A>G (p.Val495=) rs200587166 0.00009
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_024996.7(GFM1):c.1368G>A (p.Lys456=) rs774280744 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025216.3(WNT10A):c.429C>T (p.His143=) rs747642854 0.00009
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_033305.3(VPS13A):c.2499T>C (p.Ser833=) rs372027471 0.00009
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val) rs748850424 0.00009
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser) rs151130451 0.00009
NM_130849.4(SLC39A4):c.1149+9C>T rs139192292 0.00009
NM_130849.4(SLC39A4):c.804+9C>T rs200693339 0.00009
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892 0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.4986C>T (p.Thr1662=) rs148773425 0.00009
NM_152564.5(VPS13B):c.9039G>A (p.Val3013=) rs542823658 0.00009
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr) rs114630940 0.00009
NM_213653.4(HJV):c.1068T>C (p.Ala356=) rs148998327 0.00009
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala) rs577313004 0.00008
NM_000049.4(ASPA):c.459C>T (p.Tyr153=) rs141755746 0.00008
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00008
NM_000092.5(COL4A4):c.2751C>T (p.Pro917=) rs544472944 0.00008
NM_000094.4(COL7A1):c.1242C>T (p.Asp414=) rs373138319 0.00008
NM_000094.4(COL7A1):c.3937G>A (p.Ala1313Thr) rs778191454 0.00008
NM_000094.4(COL7A1):c.4783-6C>T rs761361407 0.00008
NM_000094.4(COL7A1):c.7380+8G>A rs560853464 0.00008
NM_000094.4(COL7A1):c.8238T>C (p.Gly2746=) rs761159131 0.00008
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=) rs201222065 0.00008
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359 0.00008
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=) rs17227389 0.00008
NM_000137.4(FAH):c.1008C>T (p.Asn336=) rs373285527 0.00008
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000158.4(GBE1):c.1995C>T (p.His665=) rs201515305 0.00008
NM_000159.4(GCDH):c.801C>T (p.Asp267=) rs141293881 0.00008
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=) rs33932258 0.00008
NM_000199.5(SGSH):c.1104C>T (p.His368=) rs111800668 0.00008
NM_000202.8(IDS):c.1006+8T>C rs782781942 0.00008
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292 0.00008
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000246.4(CIITA):c.3015G>A (p.Ser1005=) rs764664500 0.00008
NM_000260.4(MYO7A):c.3651C>T (p.His1217=) rs776731918 0.00008
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00008
NM_000260.4(MYO7A):c.894C>T (p.Tyr298=) rs554789699 0.00008
NM_000287.4(PEX6):c.1821C>T (p.Ala607=) rs201730259 0.00008
NM_000287.4(PEX6):c.390C>T (p.Thr130=) rs753963225 0.00008
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=) rs146318448 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000397.4(CYBB):c.1587-6C>T rs369705608 0.00008
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=) rs375213175 0.00008
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000498.3(CYP11B2):c.135A>G (p.Pro45=) rs765056481 0.00008
NM_000521.4(HEXB):c.216C>T (p.Leu72=) rs780221860 0.00008
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00008
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=) rs763786776 0.00008
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile) rs370828368 0.00008
NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=) rs148224513 0.00008
NM_000709.4(BCKDHA):c.176C>T (p.Ala59Val) rs138373035 0.00008
NM_001039958.2(MESP2):c.18T>A (p.Pro6=) rs529998749 0.00008
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) rs387907471 0.00008
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=) rs200521119 0.00008
NM_001127671.2(LIFR):c.2463G>A (p.Pro821=) rs749085598 0.00008
NM_001130987.2(DYSF):c.1449+3G>A rs764771218 0.00008
NM_001130987.2(DYSF):c.4464+7T>C rs369949055 0.00008
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_001142800.2(EYS):c.2506C>T (p.Leu836=) rs377216870 0.00008
NM_001142800.2(EYS):c.6510C>T (p.Asn2170=) rs756110037 0.00008
NM_001174089.2(SLC4A11):c.117C>T (p.Thr39=) rs774713662 0.00008
NM_001283009.2(RTEL1):c.1518C>T (p.Ile506=) rs757231662 0.00008
NM_001283009.2(RTEL1):c.959-9G>A rs373436285 0.00008
NM_001369.3(DNAH5):c.9619T>C (p.Leu3207=) rs753402995 0.00008
NM_001384140.1(PCDH15):c.2325G>A (p.Val775=) rs200792575 0.00008
NM_002778.4(PSAP):c.588C>T (p.Asp196=) rs374869360 0.00008
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) rs200319381 0.00008
NM_003640.5(ELP1):c.304-7G>A rs374063549 0.00008
NM_004006.3(DMD):c.5700A>G (p.Leu1900=) rs374387166 0.00008
NM_004006.3(DMD):c.7725G>A (p.Leu2575=) rs754604466 0.00008
NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala) rs773656507 0.00008
NM_004006.3(DMD):c.8766C>T (p.Ser2922=) rs149776669 0.00008
NM_004006.3(DMD):c.8829G>A (p.Thr2943=) rs150766816 0.00008
NM_004006.3(DMD):c.8925C>T (p.Leu2975=) rs374063420 0.00008
NM_004035.7(ACOX1):c.1452C>T (p.Thr484=) rs377000540 0.00008
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_006261.5(PROP1):c.81G>A (p.Pro27=) rs749312622 0.00008
NM_006623.4(PHGDH):c.1560G>A (p.Ala520=) rs145788723 0.00008
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) rs370395134 0.00008
NM_013339.4(ALG6):c.915G>A (p.Thr305=) rs112769742 0.00008
NM_013339.4(ALG6):c.96G>A (p.Pro32=) rs149990175 0.00008
NM_014049.5(ACAD9):c.1596G>C (p.Arg532=) rs368130030 0.00008
NM_014249.4(NR2E3):c.150C>T (p.Cys50=) rs376753500 0.00008
NM_014844.5(TECPR2):c.3873C>T (p.His1291=) rs377631259 0.00008
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_024685.4(BBS10):c.1629C>T (p.Asn543=) rs145124702 0.00008
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_033305.3(VPS13A):c.2601A>G (p.Arg867=) rs145624888 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_130849.4(SLC39A4):c.456C>T (p.Ala152=) rs201684850 0.00008
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035 0.00008
NM_153006.3(NAGS):c.722T>C (p.Val241Ala) rs201142696 0.00008
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=) rs144655434 0.00008
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=) rs781928741 0.00007
NM_000033.4(ABCD1):c.504C>G (p.Ala168=) rs782453684 0.00007
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) rs782563177 0.00007
NM_000048.4(ASL):c.174C>T (p.Ala58=) rs376104424 0.00007
NM_000048.4(ASL):c.330A>G (p.Gly110=) rs147464765 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000057.4(BLM):c.2856G>A (p.Gly952=) rs140559841 0.00007
NM_000057.4(BLM):c.3751+9A>C rs774368488 0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=) rs376713095 0.00007
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549 0.00007
NM_000094.4(COL7A1):c.2340G>A (p.Ser780=) rs747814933 0.00007
NM_000117.3(EMD):c.12C>T (p.Tyr4=) rs782011714 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000135.4(FANCA):c.2981+4dup rs75004096 0.00007
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00007
NM_000156.6(GAMT):c.201G>A (p.Val67=) rs745986528 0.00007
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835 0.00007
NM_000158.4(GBE1):c.1389G>A (p.Thr463=) rs757933285 0.00007
NM_000159.4(GCDH):c.861C>T (p.Phe287=) rs200757991 0.00007
NM_000182.5(HADHA):c.1935G>A (p.Arg645=) rs762246988 0.00007
NM_000195.5(HPS1):c.90C>T (p.Phe30=) rs765362355 0.00007
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071 0.00007
NM_000203.5(IDUA):c.882C>T (p.Pro294=) rs762825338 0.00007
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp) rs200239526 0.00007
NM_000235.4(LIPA):c.1023C>T (p.Ser341=) rs747984396 0.00007
NM_000274.4(OAT):c.1110C>T (p.Ala370=) rs148325838 0.00007
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833 0.00007
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 0.00007
NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=) rs200693100 0.00007
NM_000359.3(TGM1):c.1653C>T (p.Asp551=) rs2855111 0.00007
NM_000360.4(TH):c.1476G>A (p.Ala492=) rs146945950 0.00007
NM_000360.4(TH):c.240C>T (p.Ala80=) rs371658705 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln) rs144190241 0.00007
NM_000397.4(CYBB):c.1158G>A (p.Ala386=) rs374511592 0.00007
NM_000478.6(ALPL):c.1245T>C (p.Tyr415=) rs747539132 0.00007
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00007
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg) rs782598442 0.00007
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu) rs149232501 0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=) rs200831024 0.00007
NM_000709.4(BCKDHA):c.288+10G>A rs376894084 0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001142800.2(EYS):c.6009C>T (p.Leu2003=) rs934395477 0.00007
NM_001164508.2(NEB):c.105G>A (p.Thr35=) rs368075131 0.00007
NM_001164508.2(NEB):c.16875C>T (p.Val5625=) rs757882235 0.00007
NM_001201543.2(FAM161A):c.720G>A (p.Glu240=) rs750749446 0.00007
NM_001283009.2(RTEL1):c.2436C>T (p.Pro812=) rs370202708 0.00007
NM_001283009.2(RTEL1):c.3499+6G>A rs201617354 0.00007
NM_001352514.2(HLCS):c.816C>T (p.Ala272=) rs376665169 0.00007
NM_001370658.1(BTD):c.1344C>T (p.Phe448=) rs781065270 0.00007
NM_001378454.1(ALMS1):c.2493C>T (p.Pro831=) rs561060460 0.00007
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly) rs868269804 0.00007
NM_001399.5(EDA):c.870C>T (p.Ser290=) rs760869403 0.00007
NM_001875.5(CPS1):c.487G>A (p.Gly163Arg) rs200214298 0.00007
NM_001953.5(TYMP):c.1185G>A (p.Leu395=) rs748898877 0.00007
NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=) rs780429964 0.00007
NM_003640.5(ELP1):c.1599A>G (p.Ala533=) rs771318456 0.00007
NM_003640.5(ELP1):c.2769A>G (p.Thr923=) rs370330097 0.00007
NM_003640.5(ELP1):c.3219C>A (p.Ala1073=) rs371960059 0.00007
NM_003982.4(SLC7A7):c.1431G>A (p.Gly477=) rs201993411 0.00007
NM_004004.6(GJB2):c.177C>T (p.Gly59=) rs375122728 0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_004006.3(DMD):c.2060C>T (p.Thr687Met) rs751543064 0.00007
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_004006.3(DMD):c.3450G>A (p.Glu1150=) rs142967431 0.00007
NM_004006.3(DMD):c.4721G>A (p.Arg1574His) rs755206033 0.00007
NM_004006.3(DMD):c.8307C>T (p.Ser2769=) rs958880486 0.00007
NM_004006.3(DMD):c.863G>C (p.Arg288Thr) rs767304770 0.00007
NM_004006.3(DMD):c.8712A>G (p.Leu2904=) rs764631900 0.00007
NM_004006.3(DMD):c.9093C>T (p.Val3031=) rs72466563 0.00007
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser) rs201718067 0.00007
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) rs143260706 0.00007
NM_004646.4(NPHS1):c.3654C>T (p.Asp1218=) rs766025346 0.00007
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp) rs201796294 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala) rs139205111 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_006623.4(PHGDH):c.261C>T (p.Ala87=) rs761309245 0.00007
NM_012203.2(GRHPR):c.846C>G (p.Leu282=) rs146293016 0.00007
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu) rs773699560 0.00007
NM_014140.4(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758 0.00007
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00007
NM_014625.4(NPHS2):c.126G>A (p.Gly42=) rs769791509 0.00007
NM_014844.5(TECPR2):c.2250G>A (p.Thr750=) rs182655288 0.00007
NM_014844.5(TECPR2):c.4081+10C>T rs745954864 0.00007
NM_015166.4(MLC1):c.120G>A (p.Ser40=) rs557978926 0.00007
NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=) rs187954010 0.00007
NM_017739.4(POMGNT1):c.1605-8C>T rs535331969 0.00007
NM_019098.5(CNGB3):c.1110T>C (p.Val370=) rs148884146 0.00007
NM_020533.3(MCOLN1):c.1650C>T (p.Ser550=) rs749335667 0.00007
NM_023036.6(DNAI2):c.1251C>T (p.Pro417=) rs139319121 0.00007
NM_025216.3(WNT10A):c.125A>G (p.Asn42Ser) rs149865858 0.00007
NM_025216.3(WNT10A):c.874A>G (p.Ser292Gly) rs767665930 0.00007
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=) rs772650866 0.00007
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=) rs369183721 0.00007
NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met) rs201481496 0.00007
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_130849.4(SLC39A4):c.1149+10C>T rs782654111 0.00007
NM_130849.4(SLC39A4):c.210C>T (p.Asp70=) rs782410150 0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583 0.00007
NM_152618.3(BBS12):c.1980G>A (p.Pro660=) rs778953866 0.00007
NM_201548.5(CERKL):c.327T>G (p.Val109=) rs907281117 0.00007
NM_206933.4(USH2A):c.1158C>A (p.Ile386=) rs1037072307 0.00007
NM_206933.4(USH2A):c.5061T>C (p.Ile1687=) rs144857806 0.00007
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=) rs764839361 0.00007
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=) rs777803742 0.00007
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000018.4(ACADVL):c.264C>T (p.Phe88=) rs147357106 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000030.3(AGXT):c.762C>T (p.Asp254=) rs375038017 0.00006
NM_000030.3(AGXT):c.888G>A (p.Ala296=) rs979513298 0.00006
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982 0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.4186T>C (p.Leu1396=) rs376734461 0.00006
NM_000057.4(BLM):c.450C>T (p.Thr150=) rs148861300 0.00006
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=) rs371577901 0.00006
NM_000080.4(CHRNE):c.1074G>A (p.Pro358=) rs745744138 0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) rs767374241 0.00006
NM_000080.4(CHRNE):c.948G>A (p.Thr316=) rs144207552 0.00006
NM_000094.4(COL7A1):c.1527C>T (p.Ser509=) rs78149541 0.00006
NM_000094.4(COL7A1):c.3612G>A (p.Ala1204=) rs762604188 0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=) rs142686837 0.00006
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr) rs780506505 0.00006
NM_000094.4(COL7A1):c.761C>T (p.Ala254Val) rs201916805 0.00006
NM_000094.4(COL7A1):c.8064C>T (p.Asp2688=) rs546054756 0.00006
NM_000094.4(COL7A1):c.8322C>T (p.Ala2774=) rs142948995 0.00006
NM_000094.4(COL7A1):c.8819-3C>T rs148536949 0.00006
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=) rs139905959 0.00006
NM_000108.5(DLD):c.508G>A (p.Gly170Ser) rs567286177 0.00006
NM_000128.4(F11):c.-57G>A rs1043431996 0.00006
NM_000128.4(F11):c.1287C>T (p.Ala429=) rs138122638 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_000154.2(GALK1):c.657C>T (p.Ala219=) rs754593748 0.00006
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930 0.00006
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724 0.00006
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240 0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152 0.00006
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=) rs745608432 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000199.5(SGSH):c.840C>T (p.Ser280=) rs146904798 0.00006
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643 0.00006
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462 0.00006
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621 0.00006
NM_000203.5(IDUA):c.765G>C (p.Arg255=) rs965929339 0.00006
NM_000206.3(IL2RG):c.754A>G (p.Lys252Glu) rs765748584 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.657C>T (p.Gly219=) rs104895182 0.00006
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met) rs200742204 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000252.3(MTM1):c.1455T>C (p.Ala485=) rs141358705 0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763 0.00006
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586 0.00006
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801 0.00006
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791 0.00006
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) rs778536273 0.00006
NM_000303.3(PMM2):c.339G>A (p.Pro113=) rs149849259 0.00006
NM_000329.3(RPE65):c.1086A>G (p.Gln362=) rs750890448 0.00006
NM_000352.6(ABCC8):c.1368C>T (p.Leu456=) rs775001123 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) rs373478721 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.362C>T (p.Pro121Leu) rs760017478 0.00006
NM_000382.3(ALDH3A2):c.1179G>A (p.Thr393=) rs372428552 0.00006
NM_000383.4(AIRE):c.1326C>T (p.Asp442=) rs750033525 0.00006
NM_000390.4(CHM):c.498G>A (p.Ala166=) rs779055829 0.00006
NM_000390.4(CHM):c.957A>G (p.Thr319=) rs373242750 0.00006
NM_000396.4(CTSK):c.117C>T (p.Asn39=) rs369459638 0.00006
NM_000397.4(CYBB):c.1203T>C (p.Tyr401=) rs782312337 0.00006
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) rs766572560 0.00006
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=) rs202033028 0.00006
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp) rs200133602 0.00006
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394 0.00006
NM_000486.6(AQP2):c.70G>A (p.Val24Ile) rs200706192 0.00006
NM_000487.6(ARSA):c.228C>T (p.Ala76=) rs371930403 0.00006
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=) rs373458498 0.00006
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880 0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000498.3(CYP11B2):c.1240G>C (p.Ala414Pro) rs755139614 0.00006
NM_000527.5(LDLR):c.2397C>T (p.Leu799=) rs367882846 0.00006
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000709.4(BCKDHA):c.606C>T (p.Phe202=) rs370068964 0.00006
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) rs398123514 0.00006
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_001003722.2(GLE1):c.471G>A (p.Lys157=) rs773154466 0.00006
NM_001033855.3(DCLRE1C):c.161+8A>C rs542719569 0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001126108.2(SLC12A3):c.1932G>A (p.Gln644=) rs749222099 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=) rs781758050 0.00006
NM_001142800.2(EYS):c.1950G>A (p.Ala650=) rs565864295 0.00006
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=) rs727504033 0.00006
NM_001164508.2(NEB):c.10821C>T (p.Pro3607=) rs375814899 0.00006
NM_001164508.2(NEB):c.20127C>T (p.His6709=) rs368328496 0.00006
NM_001164508.2(NEB):c.2415T>C (p.Asp805=) rs566989836 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001174089.2(SLC4A11):c.120C>T (p.Phe40=) rs577502313 0.00006
NM_001174089.2(SLC4A11):c.1890G>A (p.Ala630=) rs376848818 0.00006
NM_001174089.2(SLC4A11):c.242-6C>T rs761855363 0.00006
NM_001283009.2(RTEL1):c.12A>C (p.Ile4=) rs779748543 0.00006
NM_001283009.2(RTEL1):c.3222G>A (p.Ala1074=) rs575430966 0.00006
NM_001283009.2(RTEL1):c.3267C>T (p.Asp1089=) rs370637234 0.00006
NM_001283009.2(RTEL1):c.3273C>T (p.Asp1091=) rs528125869 0.00006
NM_001360.3(DHCR7):c.522C>T (p.Phe174=) rs140648594 0.00006
NM_001365088.1(SLC12A6):c.918C>T (p.Asp306=) rs201041861 0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=) rs202103048 0.00006
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=) rs139916610 0.00006
NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=) rs201264488 0.00006
NM_001369.3(DNAH5):c.537G>A (p.Thr179=) rs370805321 0.00006
NM_001369.3(DNAH5):c.7602G>T (p.Ala2534=) rs770309996 0.00006
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=) rs370981817 0.00006
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=) rs769982352 0.00006
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=) rs747216050 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=) rs529600949 0.00006
NM_001378454.1(ALMS1):c.7719A>G (p.Val2573=) rs561565809 0.00006
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg) rs537509954 0.00006
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=) rs45607436 0.00006
NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=) rs763230126 0.00006
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=) rs139873638 0.00006
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=) rs398124433 0.00006
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=) rs753440039 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_001875.5(CPS1):c.3234A>G (p.Thr1078=) rs148570490 0.00006
NM_001876.4(CPT1A):c.1845C>T (p.Phe615=) rs144747588 0.00006
NM_001876.4(CPT1A):c.2178T>C (p.Leu726=) rs200501379 0.00006
NM_002076.4(GNS):c.30G>A (p.Arg10=) rs753033310 0.00006
NM_002435.3(MPI):c.390C>T (p.Pro130=) rs140961968 0.00006
NM_002435.3(MPI):c.708G>A (p.Glu236=) rs530537706 0.00006
NM_002617.4(PEX10):c.267G>A (p.Ser89=) rs746952615 0.00006
NM_002617.4(PEX10):c.555C>T (p.His185=) rs75377471 0.00006
NM_003227.4(TFR2):c.1179C>T (p.Pro393=) rs149590949 0.00006
NM_003227.4(TFR2):c.1249A>G (p.Ile417Val) rs141101651 0.00006
NM_003227.4(TFR2):c.462G>A (p.Glu154=) rs761954336 0.00006
NM_003384.3(VRK1):c.576+8T>C rs368495945 0.00006
NM_003640.5(ELP1):c.2982G>A (p.Glu994=) rs147870527 0.00006
NM_003907.3(EIF2B5):c.936C>T (p.Asp312=) rs371452981 0.00006
NM_004006.3(DMD):c.10593C>T (p.His3531=) rs753460206 0.00006
NM_004006.3(DMD):c.1173C>T (p.Ala391=) rs1057522737 0.00006
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln) rs148511512 0.00006
NM_004006.3(DMD):c.1824G>A (p.Ala608=) rs151013182 0.00006
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln) rs139772014 0.00006
NM_004006.3(DMD):c.3405C>T (p.Asn1135=) rs373182842 0.00006
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu) rs144667422 0.00006
NM_004006.3(DMD):c.4533T>C (p.Ser1511=) rs1446495967 0.00006
NM_004006.3(DMD):c.501G>T (p.Leu167=) rs150239235 0.00006
NM_004006.3(DMD):c.5418T>C (p.Asn1806=) rs149543306 0.00006
NM_004006.3(DMD):c.7051T>C (p.Leu2351=) rs367747168 0.00006
NM_004553.6(NDUFS6):c.9G>A (p.Ala3=) rs765884582 0.00006
NM_004629.2(FANCG):c.1048C>T (p.Leu350=) rs772109570 0.00006
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe) rs17878854 0.00006
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys) rs375670819 0.00006
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00006
NM_005629.4(SLC6A8):c.1170G>A (p.Pro390=) rs782416756 0.00006
NM_005629.4(SLC6A8):c.1254+6C>T rs782764159 0.00006
NM_005629.4(SLC6A8):c.1504C>T (p.Arg502Cys) rs782488606 0.00006
NM_005629.4(SLC6A8):c.831G>A (p.Val277=) rs149357346 0.00006
NM_006019.4(TCIRG1):c.1629C>T (p.Val543=) rs367732638 0.00006
NM_006096.4(NDRG1):c.804C>T (p.Ala268=) rs754704497 0.00006
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg) rs145344767 0.00006
NM_012203.2(GRHPR):c.84-4G>A rs778578725 0.00006
NM_012243.3(SLC35A3):c.348G>A (p.Thr116=) rs574333514 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp) rs532466353 0.00006
NM_013339.4(ALG6):c.816+10A>T rs529032571 0.00006
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=) rs773940970 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr) rs546681307 0.00006
NM_014244.5(ADAMTS2):c.1524C>A (p.Thr508=) rs778841966 0.00006
NM_014244.5(ADAMTS2):c.2709C>T (p.Ala903=) rs763792775 0.00006
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr) rs375191740 0.00006
NM_014244.5(ADAMTS2):c.723C>T (p.Arg241=) rs373732340 0.00006
NM_014244.5(ADAMTS2):c.747C>T (p.His249=) rs755476647 0.00006
NM_014251.3(SLC25A13):c.1751-4_1751-3insT rs765170811 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.4743C>T (p.Phe1581=) rs143310473 0.00006
NM_014363.6(SACS):c.5529G>C (p.Leu1843=) rs148091738 0.00006
NM_014625.4(NPHS2):c.372C>T (p.Cys124=) rs139290621 0.00006
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg) rs772792595 0.00006
NM_014844.5(TECPR2):c.2970C>T (p.Leu990=) rs367970932 0.00006
NM_014844.5(TECPR2):c.3171C>T (p.Pro1057=) rs749964386 0.00006
NM_014844.5(TECPR2):c.3477G>A (p.Arg1159=) rs2295975 0.00006
NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=) rs142318405 0.00006
NM_015166.4(MLC1):c.715-5C>A rs751850836 0.00006
NM_015474.4(SAMHD1):c.18C>T (p.Ser6=) rs149098281 0.00006
NM_015506.3(MMACHC):c.*10A>G rs367574509 0.00006
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) rs528744719 0.00006
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala) rs569132013 0.00006
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=) rs138908999 0.00006
NM_015627.3(LDLRAP1):c.573C>T (p.Asp191=) rs375358854 0.00006
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=) rs767867837 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_018006.5(TRMU):c.248+9G>A rs369189631 0.00006
NM_018941.4(CLN8):c.510G>A (p.Thr170=) rs759153401 0.00006
NM_019098.5(CNGB3):c.720C>T (p.Leu240=) rs770816095 0.00006
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) rs768167603 0.00006
NM_020320.5(RARS2):c.15T>A (p.Phe5Leu) rs545377358 0.00006
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_020533.3(MCOLN1):c.1680C>T (p.Ala560=) rs747365638 0.00006
NM_022124.6(CDH23):c.2766C>T (p.Asn922=) rs371670151 0.00006
NM_022124.6(CDH23):c.6366C>T (p.Thr2122=) rs368440578 0.00006
NM_022124.6(CDH23):c.738C>T (p.Tyr246=) rs745668474 0.00006
NM_022124.6(CDH23):c.9639G>A (p.Ser3213=) rs751829738 0.00006
NM_023036.6(DNAI2):c.396G>A (p.Glu132=) rs777369529 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_024685.4(BBS10):c.429T>C (p.Gly143=) rs146587757 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_025216.3(WNT10A):c.512G>A (p.Arg171His) rs199737793 0.00006
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) rs750402363 0.00006
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568 0.00006
NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=) rs572643730 0.00006
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=) rs151069489 0.00006
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
NM_033380.3(COL4A5):c.1586C>A (p.Pro529Gln) rs758983710 0.00006
NM_033380.3(COL4A5):c.3468T>C (p.His1156=) rs769984503 0.00006
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg) rs104886399 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_054012.4(ASS1):c.1047G>T (p.Val349=) rs376502913 0.00006
NM_057176.3(BSND):c.893G>A (p.Gly298Glu) rs180858237 0.00006
NM_130849.4(SLC39A4):c.1323T>C (p.His441=) rs143819461 0.00006
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=) rs148828179 0.00006
NM_138413.4(HOGA1):c.802C>T (p.Leu268=) rs201910899 0.00006
NM_138413.4(HOGA1):c.828C>T (p.Asn276=) rs201683794 0.00006
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251 0.00006
NM_138694.4(PKHD1):c.3860T>G (p.Val1287Gly) rs767229742 0.00006
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726 0.00006
NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=) rs373244595 0.00006
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=) rs748084543 0.00006
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=) rs201670044 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.2925T>C (p.His975=) rs535722018 0.00006
NM_152564.5(VPS13B):c.4890G>A (p.Val1630=) rs144069822 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_152618.3(BBS12):c.1323G>A (p.Val441=) rs766332688 0.00006
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148 0.00006
NM_153676.4(USH1C):c.2373G>A (p.Glu791=) rs746011575 0.00006
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996 0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=) rs757526901 0.00006
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104 0.00006
NM_178138.6(LHX3):c.87G>A (p.Pro29=) rs183980824 0.00006
NM_182760.4(SUMF1):c.192G>C (p.Ser64=) rs770050124 0.00006
NM_201253.3(CRB1):c.1014C>T (p.Ile338=) rs771549675 0.00006
NM_201253.3(CRB1):c.1746A>G (p.Leu582=) rs550119977 0.00006
NM_201525.4(ADGRG1):c.801G>C (p.Val267=) rs141056936 0.00006
NM_205861.3(DHDDS):c.480T>C (p.His160=) rs758260694 0.00006
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=) rs202172029 0.00006
NM_213653.4(HJV):c.645C>G (p.Thr215=) rs782116984 0.00006
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=) rs200729208 0.00005
NM_000030.3(AGXT):c.1170G>A (p.Lys390=) rs899277137 0.00005
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=) rs782250326 0.00005
NM_000033.4(ABCD1):c.414C>T (p.Leu138=) rs782197275 0.00005
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021 0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834 0.00005
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940 0.00005
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437 0.00005
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) rs782154912 0.00005
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556 0.00005
NM_000057.4(BLM):c.2025G>A (p.Ala675=) rs781424357 0.00005
NM_000057.4(BLM):c.2049A>G (p.Glu683=) rs201440695 0.00005
NM_000057.4(BLM):c.4224G>A (p.Pro1408=) rs774367622 0.00005
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000071.3(CBS):c.1074G>A (p.Val358=) rs570135008 0.00005
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000094.4(COL7A1):c.8202C>T (p.Gly2734=) rs200292228 0.00005
NM_000133.4(F9):c.523C>T (p.Pro175Ser) rs762986355 0.00005
NM_000135.4(FANCA):c.27C>T (p.Ser9=) rs540584108 0.00005
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450 0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000136.3(FANCC):c.897-8T>C rs878853673 0.00005
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938 0.00005
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317 0.00005
NM_000166.6(GJB1):c.627G>T (p.Val209=) rs376113695 0.00005
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 0.00005
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606 0.00005
NM_000198.4(HSD3B2):c.143-7C>T rs200483303 0.00005
NM_000198.4(HSD3B2):c.246C>T (p.Ala82=) rs587717286 0.00005
NM_000202.8(IDS):c.1158C>T (p.Ser386=) rs372340411 0.00005
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858 0.00005
NM_000202.8(IDS):c.717G>A (p.Gln239=) rs782087755 0.00005
NM_000202.8(IDS):c.894G>A (p.Gln298=) rs781812519 0.00005
NM_000206.3(IL2RG):c.130A>G (p.Thr44Ala) rs7885041 0.00005
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) rs778229878 0.00005
NM_000206.3(IL2RG):c.786C>T (p.Ala262=) rs374370835 0.00005
NM_000235.4(LIPA):c.342C>T (p.Asp114=) rs371133960 0.00005
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000246.4(CIITA):c.2523G>T (p.Thr841=) rs780897648 0.00005
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785 0.00005
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390 0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349 0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952 0.00005
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=) rs782554940 0.00005
NM_000274.4(OAT):c.582C>T (p.Tyr194=) rs754489812 0.00005
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.759+10C>G rs375488072 0.00005
NM_000289.6(PFKM):c.1476C>T (p.Gly492=) rs200847712 0.00005
NM_000317.3(PTS):c.132C>T (p.Asn44=) rs763556416 0.00005
NM_000317.3(PTS):c.318G>A (p.Thr106=) rs568878711 0.00005
NM_000359.3(TGM1):c.2439T>C (p.Ser813=) rs778402369 0.00005
NM_000360.4(TH):c.192C>T (p.Pro64=) rs767080132 0.00005
NM_000360.4(TH):c.678C>T (p.Ala226=) rs139619260 0.00005
NM_000397.4(CYBB):c.1701G>A (p.Lys567=) rs140774378 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947 0.00005
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu) rs782529714 0.00005
NM_000489.6(ATRX):c.2697G>A (p.Thr899=) rs137974888 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val) rs782257568 0.00005
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=) rs369658928 0.00005
NM_000489.6(ATRX):c.5957-9C>G rs375791318 0.00005
NM_000492.4(CFTR):c.2475C>T (p.Asn825=) rs746961486 0.00005
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=) rs1800116 0.00005
NM_000492.4(CFTR):c.66A>G (p.Pro22=) rs748899228 0.00005
NM_000498.3(CYP11B2):c.1209A>G (p.Val403=) rs762539427 0.00005
NM_000498.3(CYP11B2):c.702C>T (p.Thr234=) rs771614097 0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000531.6(OTC):c.372C>T (p.Leu124=) rs201070935 0.00005
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=) rs774989668 0.00005
NM_000543.5(SMPD1):c.618C>T (p.Leu206=) rs776180872 0.00005
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=) rs373428306 0.00005
NM_001017420.3(ESCO2):c.393C>T (p.Val131=) rs552661510 0.00005
NM_001042432.2(CLN3):c.615C>T (p.Ala205=) rs145631076 0.00005
NM_001127671.2(LIFR):c.2529A>G (p.Pro843=) rs779533679 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.4821C>T (p.His1607=) rs771742780 0.00005
NM_001142800.2(EYS):c.2316C>T (p.Ser772=) rs914387501 0.00005
NM_001142800.2(EYS):c.390A>G (p.Leu130=) rs758943572 0.00005
NM_001142800.2(EYS):c.7257T>C (p.Ser2419=) rs768229148 0.00005
NM_001142800.2(EYS):c.9186C>T (p.Asn3062=) rs1203358626 0.00005
NM_001164277.2(SLC37A4):c.1026G>A (p.Ser342=) rs782777751 0.00005
NM_001164508.2(NEB):c.11712G>A (p.Lys3904=) rs767231395 0.00005
NM_001164508.2(NEB):c.13044C>T (p.Tyr4348=) rs1167279039 0.00005
NM_001164508.2(NEB):c.17832C>T (p.Asp5944=) rs544453966 0.00005
NM_001164508.2(NEB):c.24820T>C (p.Leu8274=) rs372203426 0.00005
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=) rs747458739 0.00005
NM_001174089.2(SLC4A11):c.1671C>T (p.Thr557=) rs370182539 0.00005
NM_001283009.2(RTEL1):c.1752G>A (p.Ala584=) rs113304555 0.00005
NM_001283009.2(RTEL1):c.2256C>T (p.Ala752=) rs546705390 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001369.3(DNAH5):c.2307C>T (p.Ala769=) rs773547505 0.00005
NM_001370658.1(BTD):c.1188C>T (p.His396=) rs372039874 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907 0.00005
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=) rs201937708 0.00005
NM_001384140.1(PCDH15):c.2026C>T (p.Leu676=) rs746162109 0.00005
NM_001384474.1(LOXHD1):c.3219A>G (p.Thr1073=) rs748419853 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001875.5(CPS1):c.1632G>A (p.Thr544=) rs755530984 0.00005
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786 0.00005
NM_001953.5(TYMP):c.495T>C (p.Asn165=) rs372889443 0.00005
NM_001953.5(TYMP):c.516+9C>T rs201884709 0.00005
NM_002225.5(IVD):c.111T>C (p.Asp37=) rs887220079 0.00005
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234 0.00005
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459 0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 0.00005
NM_002529.4(NTRK1):c.375C>T (p.Asn125=) rs757803799 0.00005
NM_002778.4(PSAP):c.1389C>T (p.Ile463=) rs762811199 0.00005
NM_003227.4(TFR2):c.2346G>A (p.Thr782=) rs367723987 0.00005
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002 0.00005
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=) rs766875245 0.00005
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys) rs184739734 0.00005
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=) rs980211710 0.00005
NM_003742.4(ABCB11):c.282C>T (p.Asp94=) rs775605577 0.00005
NM_004006.3(DMD):c.10224T>A (p.Thr3408=) rs774389538 0.00005
NM_004006.3(DMD):c.10577G>A (p.Arg3526His) rs139547504 0.00005
NM_004006.3(DMD):c.1383T>C (p.Asn461=) rs373729675 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004006.3(DMD):c.1688G>A (p.Arg563His) rs191197223 0.00005
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu) rs587782936 0.00005
NM_004006.3(DMD):c.2245A>G (p.Ile749Val) rs771803281 0.00005
NM_004006.3(DMD):c.2607G>C (p.Gln869His) rs398123898 0.00005
NM_004006.3(DMD):c.2667A>T (p.Arg889=) rs759593799 0.00005
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp) rs199808421 0.00005
NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu) rs747239076 0.00005
NM_004006.3(DMD):c.3375G>A (p.Ser1125=) rs191164314 0.00005
NM_004006.3(DMD):c.3419A>T (p.His1140Leu) rs201297190 0.00005
NM_004006.3(DMD):c.3432+8C>A rs781003275 0.00005
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe) rs377156960 0.00005
NM_004006.3(DMD):c.5013A>G (p.Leu1671=) rs747877998 0.00005
NM_004006.3(DMD):c.5280C>T (p.Leu1760=) rs776420984 0.00005
NM_004006.3(DMD):c.603C>T (p.Asn201=) rs750180929 0.00005
NM_004006.3(DMD):c.6132T>C (p.Ser2044=) rs761338933 0.00005
NM_004006.3(DMD):c.7781A>G (p.Gln2594Arg) rs777178221 0.00005
NM_004006.3(DMD):c.7914T>C (p.Asp2638=) rs754997935 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_004006.3(DMD):c.8718G>A (p.Lys2906=) rs377178242 0.00005
NM_004006.3(DMD):c.8886C>T (p.Pro2962=) rs371648038 0.00005
NM_004035.7(ACOX1):c.840T>C (p.Phe280=) rs201023888 0.00005
NM_004553.6(NDUFS6):c.117C>G (p.Val39=) rs556405335 0.00005
NM_004646.4(NPHS1):c.1185T>C (p.Gly395=) rs149815919 0.00005
NM_004646.4(NPHS1):c.3027C>T (p.Tyr1009=) rs762184939 0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=) rs782808736 0.00005
NM_005957.5(MTHFR):c.1378C>T (p.Leu460=) rs200180238 0.00005
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=) rs190046545 0.00005
NM_006096.4(NDRG1):c.69C>A (p.Ile23=) rs369862936 0.00005
NM_007259.5(VPS45):c.939G>A (p.Ala313=) rs142461153 0.00005
NM_012203.2(GRHPR):c.342C>T (p.Leu114=) rs374108537 0.00005
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=) rs559422558 0.00005
NM_014049.5(ACAD9):c.1717G>A (p.Val573Met) rs138264216 0.00005
NM_014244.5(ADAMTS2):c.3573A>G (p.Arg1191=) rs540177122 0.00005
NM_014249.4(NR2E3):c.1082A>G (p.His361Arg) rs537337423 0.00005
NM_014249.4(NR2E3):c.1146T>G (p.Thr382=) rs774464533 0.00005
NM_014249.4(NR2E3):c.449C>T (p.Pro150Leu) rs777140312 0.00005
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=) rs765358773 0.00005
NM_014363.6(SACS):c.10980C>T (p.Pro3660=) rs141353693 0.00005
NM_014363.6(SACS):c.1152T>G (p.Thr384=) rs185643322 0.00005
NM_014844.5(TECPR2):c.3912C>T (p.Thr1304=) rs748689796 0.00005
NM_014844.5(TECPR2):c.72G>A (p.Pro24=) rs201004031 0.00005
NM_015474.4(SAMHD1):c.114C>G (p.Leu38=) rs757642528 0.00005
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=) rs1057515462 0.00005
NM_017739.4(POMGNT1):c.1540-6C>T rs770449394 0.00005
NM_017739.4(POMGNT1):c.1758C>T (p.Asp586=) rs376138855 0.00005
NM_020533.3(MCOLN1):c.876C>T (p.His292=) rs199588225 0.00005
NM_020533.3(MCOLN1):c.915C>T (p.Val305=) rs578062566 0.00005
NM_022124.6(CDH23):c.1410C>T (p.Tyr470=) rs549569431 0.00005
NM_022124.6(CDH23):c.2419C>T (p.Leu807=) rs748582000 0.00005
NM_022124.6(CDH23):c.30C>T (p.His10=) rs572955107 0.00005
NM_022124.6(CDH23):c.3106+11G>A rs759689776 0.00005
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514 0.00005
NM_022124.6(CDH23):c.8913C>T (p.Phe2971=) rs915502924 0.00005
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=) rs143178200 0.00005
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319 0.00005
NM_025215.6(PUS1):c.564C>T (p.Gly188=) rs369250859 0.00005
NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=) rs748268509 0.00005
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=) rs191925614 0.00005
NM_033305.3(VPS13A):c.723T>C (p.Asn241=) rs749945516 0.00005
NM_033305.3(VPS13A):c.8953+7A>G rs375621860 0.00005
NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=) rs149474259 0.00005
NM_033380.3(COL4A5):c.1584A>G (p.Leu528=) rs370355907 0.00005
NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=) rs752953167 0.00005
NM_057176.3(BSND):c.909C>T (p.Ala303=) rs756452755 0.00005
NM_130849.4(SLC39A4):c.558G>C (p.Leu186=) rs199632014 0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) rs752509045 0.00005
NM_138694.4(PKHD1):c.2184G>A (p.Leu728=) rs926797825 0.00005
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=) rs759939735 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=) rs149919865 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_201253.3(CRB1):c.447C>T (p.His149=) rs576678571 0.00005
NM_201525.4(ADGRG1):c.1491C>T (p.Leu497=) rs369114425 0.00005
NM_201548.5(CERKL):c.15G>A (p.Arg5=) rs762405291 0.00005
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=) rs778669346 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_000016.6(ACADM):c.426G>A (p.Lys142=) rs565131848 0.00004
NM_000016.6(ACADM):c.960A>G (p.Ser320=) rs138728545 0.00004
NM_000018.4(ACADVL):c.255T>C (p.Asp85=) rs201085520 0.00004
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037 0.00004
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899 0.00004
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868 0.00004
NM_000033.4(ABCD1):c.600C>T (p.Asp200=) rs782724538 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318 0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654 0.00004
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813 0.00004
NM_000057.4(BLM):c.2721G>A (p.Thr907=) rs1009065257 0.00004
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) rs576199850 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=) rs772143528 0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784 0.00004
NM_000080.4(CHRNE):c.15G>A (p.Pro5=) rs756933520 0.00004
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=) rs369320502 0.00004
NM_000091.5(COL4A3):c.2133A>G (p.Gln711=) rs527383673 0.00004
NM_000091.5(COL4A3):c.516C>T (p.Asp172=) rs759455097 0.00004
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 0.00004
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000094.4(COL7A1):c.3063C>T (p.Gly1021=) rs139371408 0.00004
NM_000094.4(COL7A1):c.3555T>G (p.Leu1185=) rs769937344 0.00004
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=) rs573530168 0.00004
NM_000094.4(COL7A1):c.675C>T (p.Thr225=) rs756726621 0.00004
NM_000094.4(COL7A1):c.903C>T (p.Thr301=) rs369040036 0.00004
NM_000103.4(CYP19A1):c.823T>C (p.Cys275Arg) rs201118855 0.00004
NM_000117.3(EMD):c.171C>T (p.Ser57=) rs900267221 0.00004
NM_000117.3(EMD):c.585A>G (p.Ser195=) rs140970151 0.00004
NM_000128.4(F11):c.111G>A (p.Thr37=) rs762996950 0.00004
NM_000128.4(F11):c.96A>C (p.Gly32=) rs368183250 0.00004
NM_000133.4(F9):c.*10G>C rs186616567 0.00004
NM_000133.4(F9):c.582T>G (p.Thr194=) rs754155651 0.00004
NM_000133.4(F9):c.730T>C (p.Leu244=) rs765470577 0.00004
NM_000133.4(F9):c.834C>T (p.Val278=) rs199844858 0.00004
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) rs1460026241 0.00004
NM_000135.4(FANCA):c.2088C>T (p.Ser696=) rs150917432 0.00004
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=) rs368985041 0.00004
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=) rs367630825 0.00004
NM_000136.3(FANCC):c.*7C>T rs372511678 0.00004
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) rs375362894 0.00004
NM_000137.4(FAH):c.408C>T (p.Asn136=) rs111972793 0.00004
NM_000137.4(FAH):c.441G>A (p.Ala147=) rs141863249 0.00004
NM_000137.4(FAH):c.975G>C (p.Thr325=) rs776473288 0.00004
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000154.2(GALK1):c.1077C>T (p.Ser359=) rs376050836 0.00004
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710 0.00004
NM_000195.5(HPS1):c.1940+9G>A rs757142456 0.00004
NM_000195.5(HPS1):c.204C>T (p.Thr68=) rs149759513 0.00004
NM_000199.5(SGSH):c.909A>G (p.Lys303=) rs746617014 0.00004
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132 0.00004
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256 0.00004
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662 0.00004
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466 0.00004
NM_000235.4(LIPA):c.76C>T (p.Leu26=) rs377437637 0.00004
NM_000237.3(LPL):c.1338T>C (p.Ser446=) rs146509813 0.00004
NM_000243.3(MEFV):c.1527C>T (p.Leu509=) rs571832030 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.948C>T (p.His316=) rs150252937 0.00004
NM_000246.4(CIITA):c.1560G>A (p.Ala520=) rs781538086 0.00004
NM_000246.4(CIITA):c.1695G>A (p.Glu565=) rs766945455 0.00004
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala) rs142257962 0.00004
NM_000246.4(CIITA):c.2154G>A (p.Gly718=) rs201455192 0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) rs140744506 0.00004
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.66G>A (p.Thr22=) rs781793926 0.00004
NM_000260.4(MYO7A):c.444C>T (p.Asn148=) rs1253765162 0.00004
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=) rs548620787 0.00004
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083 0.00004
NM_000271.5(NPC1):c.123T>C (p.Asn41=) rs777848348 0.00004
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442 0.00004
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu) rs759331650 0.00004
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932 0.00004
NM_000329.3(RPE65):c.75G>A (p.Pro25=) rs199529021 0.00004
NM_000329.3(RPE65):c.94+10G>A rs777879312 0.00004
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512 0.00004
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln) rs374743072 0.00004
NM_000352.6(ABCC8):c.495G>A (p.Ser165=) rs369136858 0.00004
NM_000360.4(TH):c.132C>T (p.Asp44=) rs767310984 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000360.4(TH):c.24G>A (p.Thr8=) rs529205525 0.00004
NM_000397.4(CYBB):c.1413C>T (p.Ala471=) rs782094378 0.00004
NM_000397.4(CYBB):c.171A>G (p.Ala57=) rs781824754 0.00004
NM_000397.4(CYBB):c.348C>T (p.Thr116=) rs782735382 0.00004
NM_000397.4(CYBB):c.388C>A (p.Arg130=) rs180899069 0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000441.2(SLC26A4):c.1287G>A (p.Ala429=) rs778271465 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000487.6(ARSA):c.1006C>T (p.Leu336=) rs778950224 0.00004
NM_000487.6(ARSA):c.591C>T (p.Pro197=) rs34457249 0.00004
NM_000489.6(ATRX):c.1047C>G (p.Pro349=) rs200288042 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.2880C>T (p.Gly960=) rs782796279 0.00004
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=) rs140476563 0.00004
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 0.00004
NM_000518.5(HBB):c.180G>A (p.Lys60=) rs34621955 0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.1380C>T (p.His460=) rs768883894 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=) rs762918325 0.00004
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332 0.00004
NM_000536.4(RAG2):c.1443T>C (p.His481=) rs560115611 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000642.3(AGL):c.174T>C (p.Asn58=) rs779677453 0.00004
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) rs373390136 0.00004
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=) rs577558935 0.00004
NM_001003722.2(GLE1):c.1542C>T (p.Pro514=) rs536855777 0.00004
NM_001003722.2(GLE1):c.1566T>G (p.Ala522=) rs754796237 0.00004
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862 0.00004
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=) rs114767681 0.00004
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 0.00004
NM_001079802.2(FKTN):c.207T>C (p.Asn69=) rs752921570 0.00004
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=) rs147032284 0.00004
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=) rs200091201 0.00004
NM_001126108.2(SLC12A3):c.2514C>T (p.Asp838=) rs142297310 0.00004
NM_001127671.2(LIFR):c.1080G>A (p.Ala360=) rs769294023 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_001130987.2(DYSF):c.1683C>T (p.Asn561=) rs374809515 0.00004
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00004
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189 0.00004
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001130987.2(DYSF):c.3228+7C>T rs534331009 0.00004
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=) rs375483537 0.00004
NM_001134793.2(HYLS1):c.822A>G (p.Ala274=) rs777216787 0.00004
NM_001142800.2(EYS):c.4275T>C (p.Thr1425=) rs770430429 0.00004
NM_001142800.2(EYS):c.6891G>A (p.Lys2297=) rs1297093544 0.00004
NM_001164508.2(NEB):c.10074C>T (p.His3358=) rs896373241 0.00004
NM_001164508.2(NEB):c.10986C>T (p.Tyr3662=) rs373365702 0.00004
NM_001164508.2(NEB):c.11697C>A (p.Ile3899=) rs755871388 0.00004
NM_001164508.2(NEB):c.1386C>T (p.Tyr462=) rs376911383 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001164508.2(NEB):c.17845-6C>T rs376370460 0.00004
NM_001164508.2(NEB):c.19476C>T (p.Ile6492=) rs113068669 0.00004
NM_001164508.2(NEB):c.20940G>A (p.Thr6980=) rs369611234 0.00004
NM_001164508.2(NEB):c.4593C>T (p.Asn1531=) rs373328073 0.00004
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=) rs769446481 0.00004
NM_001164508.2(NEB):c.7134C>T (p.Asp2378=) rs752098313 0.00004
NM_001174089.2(SLC4A11):c.1926C>T (p.Val642=) rs755545377 0.00004
NM_001174089.2(SLC4A11):c.242-5G>A rs775424811 0.00004
NM_001201543.2(FAM161A):c.1554A>G (p.Val518=) rs752639878 0.00004
NM_001201543.2(FAM161A):c.228G>A (p.Pro76=) rs776173729 0.00004
NM_001201543.2(FAM161A):c.924G>A (p.Arg308=) rs1017182965 0.00004
NM_001283009.2(RTEL1):c.1239A>G (p.Ala413=) rs745951995 0.00004
NM_001283009.2(RTEL1):c.147G>A (p.Thr49=) rs114124243 0.00004
NM_001283009.2(RTEL1):c.2061G>A (p.Ala687=) rs201842671 0.00004
NM_001283009.2(RTEL1):c.2151T>C (p.Phe717=) rs751146876 0.00004
NM_001283009.2(RTEL1):c.987C>T (p.Ile329=) rs763882822 0.00004
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001360.3(DHCR7):c.159C>T (p.Ile53=) rs752952700 0.00004
NM_001365088.1(SLC12A6):c.924C>G (p.Leu308=) rs372465430 0.00004
NM_001369.3(DNAH5):c.3086A>T (p.Asp1029Val) rs201338727 0.00004
NM_001369.3(DNAH5):c.5157C>T (p.Phe1719=) rs749688197 0.00004
NM_001369.3(DNAH5):c.6957G>A (p.Thr2319=) rs202042219 0.00004
NM_001369.3(DNAH5):c.888G>A (p.Lys296=) rs758680247 0.00004
NM_001370658.1(BTD):c.1014T>C (p.His338=) rs371365798 0.00004
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=) rs375436336 0.00004
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=) rs764462322 0.00004
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=) rs983651117 0.00004
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=) rs541827475 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=) rs754743943 0.00004
NM_001384474.1(LOXHD1):c.1950C>T (p.Asn650=) rs371762941 0.00004
NM_001384474.1(LOXHD1):c.5913T>C (p.Asp1971=) rs773969803 0.00004
NM_001384474.1(LOXHD1):c.5967C>T (p.Leu1989=) rs574598048 0.00004
NM_001384474.1(LOXHD1):c.6594C>T (p.Phe2198=) rs981453947 0.00004
NM_001399.5(EDA):c.1080C>T (p.Ile360=) rs375844339 0.00004
NM_001399.5(EDA):c.1137C>T (p.Phe379=) rs780582849 0.00004
NM_001953.5(TYMP):c.1301-9G>A rs548524392 0.00004
NM_001953.5(TYMP):c.177C>T (p.Ala59=) rs137930991 0.00004
NM_002454.3(MTRR):c.27T>C (p.Ala9=) rs114748706 0.00004
NM_002454.3(MTRR):c.507G>C (p.Val169=) rs367609729 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002529.4(NTRK1):c.1902C>T (p.Val634=) rs148270992 0.00004
NM_003060.4(SLC22A5):c.1101C>T (p.Asn367=) rs1012487647 0.00004
NM_003227.4(TFR2):c.1193G>A (p.Arg398Gln) rs202022975 0.00004
NM_003227.4(TFR2):c.2184G>A (p.Pro728=) rs982999802 0.00004
NM_003384.3(VRK1):c.663C>T (p.His221=) rs376006178 0.00004
NM_003640.5(ELP1):c.1536C>T (p.Asp512=) rs751808911 0.00004
NM_003640.5(ELP1):c.1860T>C (p.Cys620=) rs769936175 0.00004
NM_003640.5(ELP1):c.3045C>T (p.His1015=) rs772697433 0.00004
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=) rs746303238 0.00004
NM_003640.5(ELP1):c.3561C>T (p.Ser1187=) rs781284578 0.00004
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) rs200039061 0.00004
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177 0.00004
NM_003907.3(EIF2B5):c.1044C>T (p.Val348=) rs149507492 0.00004
NM_003907.3(EIF2B5):c.453G>A (p.Val151=) rs376258328 0.00004
NM_004006.3(DMD):c.10086+11C>T rs372337129 0.00004
NM_004006.3(DMD):c.10128A>G (p.Leu3376=) rs755438733 0.00004
NM_004006.3(DMD):c.1083A>G (p.Thr361=) rs767325921 0.00004
NM_004006.3(DMD):c.1503A>G (p.Glu501=) rs770464589 0.00004
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser) rs755456119 0.00004
NM_004006.3(DMD):c.1603-6C>T rs774626474 0.00004
NM_004006.3(DMD):c.1742C>T (p.Ala581Val) rs763155705 0.00004
NM_004006.3(DMD):c.1848C>A (p.Ser616=) rs376024929 0.00004
NM_004006.3(DMD):c.2076A>G (p.Glu692=) rs764950114 0.00004
NM_004006.3(DMD):c.2623-9A>G rs200997841 0.00004
NM_004006.3(DMD):c.2804T>G (p.Ile935Ser) rs190247714 0.00004
NM_004006.3(DMD):c.2985C>T (p.Gly995=) rs771884775 0.00004
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004006.3(DMD):c.3941G>A (p.Arg1314Gln) rs752767880 0.00004
NM_004006.3(DMD):c.4845+10A>G rs199958675 0.00004
NM_004006.3(DMD):c.5104T>C (p.Leu1702=) rs750664323 0.00004
NM_004006.3(DMD):c.5109T>C (p.Asp1703=) rs141086798 0.00004
NM_004006.3(DMD):c.6358C>T (p.Leu2120=) rs780793569 0.00004
NM_004006.3(DMD):c.6639G>A (p.Leu2213=) rs1414566832 0.00004
NM_004006.3(DMD):c.6900C>T (p.Leu2300=) rs200493074 0.00004
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu) rs201262489 0.00004
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile) rs143426249 0.00004
NM_004006.3(DMD):c.9198G>A (p.Ser3066=) rs753594128 0.00004
NM_004006.3(DMD):c.9987A>G (p.Leu3329=) rs145595228 0.00004
NM_004035.7(ACOX1):c.1752G>A (p.Gln584=) rs190226066 0.00004
NM_004629.2(FANCG):c.18C>T (p.Thr6=) rs777459203 0.00004
NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=) rs201263480 0.00004
NM_004937.3(CTNS):c.510C>T (p.Phe170=) rs747488464 0.00004
NM_005373.3(MPL):c.1629T>C (p.Leu543=) rs150816330 0.00004
NM_005609.4(PYGM):c.1926T>C (p.Arg642=) rs779048512 0.00004
NM_005629.4(SLC6A8):c.1615G>A (p.Val539Ile) rs782354054 0.00004
NM_005629.4(SLC6A8):c.306A>G (p.Gly102=) rs781983557 0.00004
NM_005726.6(TSFM):c.885C>T (p.Thr295=) rs750718644 0.00004
NM_005957.5(MTHFR):c.1134C>T (p.Thr378=) rs767306503 0.00004
NM_006019.4(TCIRG1):c.1146C>A (p.Arg382=) rs753324402 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006623.4(PHGDH):c.1116C>T (p.Pro372=) rs587662790 0.00004
NM_006623.4(PHGDH):c.1254C>T (p.Phe418=) rs763258512 0.00004
NM_006623.4(PHGDH):c.1575G>T (p.Val525=) rs587681898 0.00004
NM_007259.5(VPS45):c.369+8T>A rs201637627 0.00004
NM_012144.4(DNAI1):c.963G>A (p.Pro321=) rs762694599 0.00004
NM_012243.3(SLC35A3):c.375A>T (p.Ala125=) rs773812783 0.00004
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=) rs374336458 0.00004
NM_014049.5(ACAD9):c.959-6C>T rs368541873 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=) rs367557310 0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_014244.5(ADAMTS2):c.2403C>T (p.Asp801=) rs374315892 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.5274C>T (p.Cys1758=) rs201982449 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly) rs369713918 0.00004
NM_014844.5(TECPR2):c.1518G>A (p.Ser506=) rs370643085 0.00004
NM_014844.5(TECPR2):c.2933+9G>A rs549959695 0.00004
NM_014844.5(TECPR2):c.4119C>T (p.Pro1373=) rs536343745 0.00004
NM_015166.4(MLC1):c.1032C>T (p.Asn344=) rs199707637 0.00004
NM_015166.4(MLC1):c.648C>A (p.Ala216=) rs765062227 0.00004
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=) rs754519810 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271 0.00004
NM_016277.5(RAB23):c.255T>C (p.Cys85=) rs374601145 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020320.5(RARS2):c.444C>T (p.Thr148=) rs201596004 0.00004
NM_020533.3(MCOLN1):c.1575+10A>C rs771168805 0.00004
NM_020533.3(MCOLN1):c.1716G>C (p.Ser572=) rs760559591 0.00004
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=) rs201076545 0.00004
NM_020533.3(MCOLN1):c.423C>T (p.Asp141=) rs747386198 0.00004
NM_020533.3(MCOLN1):c.531G>A (p.Pro177=) rs201211905 0.00004
NM_020533.3(MCOLN1):c.63G>A (p.Gly21=) rs754263664 0.00004
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.4230C>T (p.Asp1410=) rs762720558 0.00004
NM_022124.6(CDH23):c.5535C>T (p.Asn1845=) rs779425775 0.00004
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293 0.00004
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=) rs556547267 0.00004
NM_023036.6(DNAI2):c.1407C>T (p.Cys469=) rs143723454 0.00004
NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=) rs768309175 0.00004
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) rs572478240 0.00004
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863 0.00004
NM_024312.5(GNPTAB):c.534C>G (p.Thr178=) rs777525816 0.00004
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) rs780169168 0.00004
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val) rs200718870 0.00004
NM_025114.4(CEP290):c.1905T>C (p.Asn635=) rs778341097 0.00004
NM_025114.4(CEP290):c.2244T>C (p.Ser748=) rs979564116 0.00004
NM_025114.4(CEP290):c.288T>C (p.Asn96=) rs367691481 0.00004
NM_025216.3(WNT10A):c.1005C>T (p.Asp335=) rs779449131 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_032383.5(HPS3):c.957C>G (p.Pro319=) rs751233801 0.00004
NM_032520.5(GNPTG):c.696A>G (p.Gly232=) rs746160240 0.00004
NM_033056.4(PCDH15):c.4575T>C (p.His1525=) rs746377416 0.00004
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=) rs61862392 0.00004
NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=) rs763602189 0.00004
NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=) rs571822890 0.00004
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039 0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) rs773404950 0.00004
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051 0.00004
NM_057176.3(BSND):c.411G>A (p.Gly137=) rs758111009 0.00004
NM_057176.3(BSND):c.744G>A (p.Thr248=) rs754819005 0.00004
NM_130849.4(SLC39A4):c.1068C>T (p.Val356=) rs557593730 0.00004
NM_130849.4(SLC39A4):c.150G>A (p.Thr50=) rs541710271 0.00004
NM_130849.4(SLC39A4):c.300C>T (p.Ala100=) rs374813285 0.00004
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) rs782355343 0.00004
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063 0.00004
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=) rs1052539943 0.00004
NM_138413.4(HOGA1):c.309C>T (p.Asn103=) rs772566254 0.00004
NM_138694.4(PKHD1):c.11226A>G (p.Ala3742=) rs770933024 0.00004
NM_138694.4(PKHD1):c.11460C>A (p.Ile3820=) rs763641339 0.00004
NM_138694.4(PKHD1):c.5535A>G (p.Gln1845=) rs140036742 0.00004
NM_138694.4(PKHD1):c.75T>C (p.Ile25=) rs138600204 0.00004
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=) rs772611068 0.00004
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=) rs752466254 0.00004
NM_152443.3(RDH12):c.320C>A (p.Ala107Asp) rs775717423 0.00004
NM_152564.5(VPS13B):c.10650C>T (p.His3550=) rs372367817 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11973C>T (p.Ala3991=) rs533954733 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.345C>T (p.Ser115=) rs372489158 0.00004
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043 0.00004
NM_152618.3(BBS12):c.21C>T (p.Val7=) rs754702110 0.00004
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 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.717T>A (p.Ile239=) rs372312182 0.00004
NM_178138.6(LHX3):c.93C>T (p.Cys31=) rs558712702 0.00004
NM_201548.5(CERKL):c.1159+8G>A rs201778792 0.00004
NM_206933.4(USH2A):c.14532G>A (p.Thr4844=) rs150350278 0.00004
NM_206933.4(USH2A):c.14961G>A (p.Ala4987=) rs568581229 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.22T>C (p.Leu8=) rs778803503 0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=) rs759937489 0.00004
NM_206933.4(USH2A):c.6096A>G (p.Leu2032=) rs376669318 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_000016.6(ACADM):c.118+18T>A rs755405418 0.00003
NM_000016.6(ACADM):c.657T>C (p.Phe219=) rs758331876 0.00003
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg) rs149171104 0.00003
NM_000022.4(ADA):c.1065T>C (p.Pro355=) rs371814756 0.00003
NM_000022.4(ADA):c.1079-7C>T rs551934402 0.00003
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188 0.00003
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=) rs1557054743 0.00003
NM_000033.4(ABCD1):c.294G>T (p.Ser98=) rs781954264 0.00003
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile) rs782720024 0.00003
NM_000035.4(ALDOB):c.507C>T (p.Asn169=) rs746351347 0.00003
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908 0.00003
NM_000048.4(ASL):c.1242G>A (p.Gln414=) rs144716217 0.00003
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.1368A>G (p.Leu456=) rs750579940 0.00003
NM_000051.4(ATM):c.3237T>C (p.Ala1079=) rs564238520 0.00003
NM_000051.4(ATM):c.4674G>A (p.Thr1558=) rs876658474 0.00003
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=) rs1297787618 0.00003
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847 0.00003
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638 0.00003
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197 0.00003
NM_000057.4(BLM):c.1245T>C (p.Asp415=) rs768154708 0.00003
NM_000057.4(BLM):c.129A>G (p.Ser43=) rs767605181 0.00003
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306 0.00003
NM_000057.4(BLM):c.345G>A (p.Pro115=) rs374578971 0.00003
NM_000057.4(BLM):c.3501G>A (p.Ala1167=) rs752559933 0.00003
NM_000057.4(BLM):c.3729C>T (p.Thr1243=) rs747293738 0.00003
NM_000057.4(BLM):c.3921C>T (p.Pro1307=) rs149286215 0.00003
NM_000071.3(CBS):c.1356G>A (p.Ala452=) rs776322450 0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=) rs148782895 0.00003
NM_000071.3(CBS):c.537C>T (p.Asp179=) rs769712423 0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=) rs149809170 0.00003
NM_000080.4(CHRNE):c.802+7A>C rs756213406 0.00003
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=) rs748691382 0.00003
NM_000091.5(COL4A3):c.3588C>G (p.Ala1196=) rs767337248 0.00003
NM_000092.5(COL4A4):c.1488T>C (p.Pro496=) rs1405969453 0.00003
NM_000092.5(COL4A4):c.3450T>A (p.Pro1150=) rs751859861 0.00003
NM_000094.4(COL7A1):c.2907C>T (p.Ile969=) rs185999235 0.00003
NM_000094.4(COL7A1):c.4782+9A>T rs369635501 0.00003
NM_000094.4(COL7A1):c.540T>A (p.Pro180=) rs1473537751 0.00003
NM_000094.4(COL7A1):c.6188G>A (p.Arg2063Gln) rs2229825 0.00003
NM_000094.4(COL7A1):c.6538-5A>G rs182043849 0.00003
NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser) rs368902124 0.00003
NM_000117.3(EMD):c.234G>A (p.Lys78=) rs781889152 0.00003
NM_000117.3(EMD):c.714C>T (p.Val238=) rs782290874 0.00003
NM_000128.4(F11):c.537G>A (p.Thr179=) rs752308147 0.00003
NM_000133.4(F9):c.333C>T (p.Asp111=) rs139289585 0.00003
NM_000133.4(F9):c.391+4A>G rs749754992 0.00003
NM_000133.4(F9):c.966C>T (p.Asp322=) rs373107855 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351 0.00003
NM_000143.4(FH):c.21C>T (p.Leu7=) rs1263147931 0.00003
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733 0.00003
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) rs552210450 0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 0.00003
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000170.3(GLDC):c.1446C>T (p.Asp482=) rs201147701 0.00003
NM_000170.3(GLDC):c.84G>T (p.Pro28=) rs1259938806 0.00003
NM_000182.5(HADHA):c.777G>A (p.Lys259=) rs142071869 0.00003
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423 0.00003
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655 0.00003
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878 0.00003
NM_000202.8(IDS):c.1100C>T (p.Thr367Met) rs782588855 0.00003
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574 0.00003
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858 0.00003
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=) rs370257928 0.00003
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=) rs372033248 0.00003
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu) rs775704953 0.00003
NM_000206.3(IL2RG):c.396C>T (p.Leu132=) rs201840981 0.00003
NM_000206.3(IL2RG):c.708T>C (p.His236=) rs750844357 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) rs779572391 0.00003
NM_000243.3(MEFV):c.1938G>A (p.Pro646=) rs104895160 0.00003
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000246.4(CIITA):c.1437G>A (p.Ala479=) rs779022639 0.00003
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_000255.4(MMUT):c.1737T>C (p.Asn579=) rs770895512 0.00003
NM_000260.4(MYO7A):c.1053G>A (p.Ser351=) rs187679481 0.00003
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621 0.00003
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392 0.00003
NM_000274.4(OAT):c.303G>A (p.Leu101=) rs569605240 0.00003
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582 0.00003
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208 0.00003
NM_000289.6(PFKM):c.1127+10T>C rs759084382 0.00003
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=) rs374418157 0.00003
NM_000303.3(PMM2):c.699G>A (p.Ala233=) rs375881270 0.00003
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=) rs200708414 0.00003
NM_000359.3(TGM1):c.2337C>T (p.His779=) rs755635993 0.00003
NM_000360.4(TH):c.*8G>C rs761910662 0.00003
NM_000390.4(CHM):c.619A>G (p.Thr207Ala) rs374880482 0.00003
NM_000397.4(CYBB):c.1581C>T (p.His527=) rs781915934 0.00003
NM_000414.4(HSD17B4):c.1155T>C (p.Ser385=) rs370055428 0.00003
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=) rs573894071 0.00003
NM_000466.3(PEX1):c.1281T>C (p.His427=) rs979077056 0.00003
NM_000478.6(ALPL):c.528C>T (p.Ala176=) rs758330265 0.00003
NM_000486.6(AQP2):c.162C>G (p.Thr54=) rs143497314 0.00003
NM_000487.6(ARSA):c.1332G>T (p.Leu444=) rs540031338 0.00003
NM_000489.6(ATRX):c.1350T>C (p.Cys450=) rs782077373 0.00003
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr) rs370584074 0.00003
NM_000489.6(ATRX):c.3537C>T (p.Val1179=) rs782800250 0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=) rs781845474 0.00003
NM_000492.4(CFTR):c.1500C>A (p.Gly500=) rs762619288 0.00003
NM_000492.4(CFTR):c.1734A>G (p.Leu578=) rs201025424 0.00003
NM_000492.4(CFTR):c.1932C>G (p.Leu644=) rs779674687 0.00003
NM_000492.4(CFTR):c.2703C>T (p.Asn901=) rs764201518 0.00003
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) rs1800113 0.00003
NM_000492.4(CFTR):c.489+8T>G rs727504712 0.00003
NM_000498.3(CYP11B2):c.78T>G (p.Thr26=) rs201423805 0.00003
NM_000498.3(CYP11B2):c.800-7T>C rs544965885 0.00003
NM_000525.4(KCNJ11):c.579C>T (p.His193=) rs762089425 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.2241C>T (p.Pro747=) rs554523758 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=) rs762375401 0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=) rs746514019 0.00003
NM_000543.5(SMPD1):c.1431G>A (p.Pro477=) rs138588535 0.00003
NM_000543.5(SMPD1):c.558G>A (p.Pro186=) rs1464825418 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245 0.00003
NM_001017420.3(ESCO2):c.1674-9_1674-7del rs778526413 0.00003
NM_001017420.3(ESCO2):c.684G>A (p.Pro228=) rs146523589 0.00003
NM_001039958.2(MESP2):c.207G>T (p.Thr69=) rs571669966 0.00003
NM_001122769.3(LCA5):c.1099-9G>A rs546754454 0.00003
NM_001122769.3(LCA5):c.1668C>T (p.Tyr556=) rs376479835 0.00003
NM_001122769.3(LCA5):c.897T>C (p.Ser299=) rs767145624 0.00003
NM_001126108.2(SLC12A3):c.348G>A (p.Gly116=) rs149890322 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_001130987.2(DYSF):c.126C>T (p.Ser42=) rs369755508 0.00003
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=) rs371231895 0.00003
NM_001142800.2(EYS):c.3039T>C (p.Cys1013=) rs751096016 0.00003
NM_001142800.2(EYS):c.3186A>G (p.Glu1062=) rs769541648 0.00003
NM_001142800.2(EYS):c.6726-6G>A rs575406480 0.00003
NM_001142800.2(EYS):c.8917A>C (p.Arg2973=) rs1022087052 0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001164508.2(NEB):c.12288C>T (p.Asn4096=) rs755521679 0.00003
NM_001164508.2(NEB):c.1230T>C (p.Asp410=) rs78892743 0.00003
NM_001164508.2(NEB):c.12666C>T (p.Asp4222=) rs1310326732 0.00003
NM_001164508.2(NEB):c.339C>T (p.Tyr113=) rs546510007 0.00003
NM_001164508.2(NEB):c.4341C>T (p.Ile1447=) rs576286059 0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=) rs371570995 0.00003
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_001174089.2(SLC4A11):c.1503C>T (p.Tyr501=) rs762726449 0.00003
NM_001174089.2(SLC4A11):c.1707C>G (p.Leu569=) rs754759954 0.00003
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) rs374451559 0.00003
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=) rs751461445 0.00003
NM_001283009.2(RTEL1):c.396-27T>C rs774523585 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001360.3(DHCR7):c.336G>A (p.Thr112=) rs759750125 0.00003
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=) rs779401555 0.00003
NM_001365088.1(SLC12A6):c.1659T>C (p.Asp553=) rs750940125 0.00003
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=) rs755874851 0.00003
NM_001369.3(DNAH5):c.13065G>C (p.Val4355=) rs372488592 0.00003
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser) rs567013299 0.00003
NM_001369.3(DNAH5):c.8925C>T (p.Tyr2975=) rs755490391 0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690 0.00003
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) rs546745992 0.00003
NM_001378454.1(ALMS1):c.1773C>T (p.Asp591=) rs369744185 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala) rs571389435 0.00003
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr) rs768930001 0.00003
NM_001384140.1(PCDH15):c.969C>A (p.Leu323=) rs994026891 0.00003
NM_001384474.1(LOXHD1):c.5628C>T (p.Ile1876=) rs149705118 0.00003
NM_001386140.1(MTTP):c.1668C>T (p.Asp556=) rs751421159 0.00003
NM_001399.5(EDA):c.1014G>A (p.Thr338=) rs750674219 0.00003
NM_001399.5(EDA):c.371A>G (p.His124Arg) rs751470511 0.00003
NM_002435.3(MPI):c.69C>T (p.Ser23=) rs140124850 0.00003
NM_002454.3(MTRR):c.1080A>C (p.Ile360=) rs969738618 0.00003
NM_002529.4(NTRK1):c.1029C>T (p.His343=) rs772855825 0.00003
NM_002529.4(NTRK1):c.1083G>T (p.Leu361=) rs750656916 0.00003
NM_002617.4(PEX10):c.280G>A (p.Val94Met) rs142626035 0.00003
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) rs572916661 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_003060.4(SLC22A5):c.1539C>T (p.Phe513=) rs370593952 0.00003
NM_003227.4(TFR2):c.2091G>A (p.Glu697=) rs748623879 0.00003
NM_003227.4(TFR2):c.2268C>T (p.Ser756=) rs760061994 0.00003
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149 0.00003
NM_003640.5(ELP1):c.1834T>C (p.Leu612=) rs768084021 0.00003
NM_003640.5(ELP1):c.2097T>C (p.Thr699=) rs144352068 0.00003
NM_003640.5(ELP1):c.423G>A (p.Glu141=) rs567960748 0.00003
NM_003640.5(ELP1):c.579C>T (p.Asp193=) rs766231058 0.00003
NM_003659.4(AGPS):c.1209C>T (p.Ala403=) rs761638262 0.00003
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=) rs776223452 0.00003
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=) rs751446315 0.00003
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=) rs765682604 0.00003
NM_004006.3(DMD):c.1014A>G (p.Glu338=) rs758035070 0.00003
NM_004006.3(DMD):c.1059G>A (p.Ser353=) rs760621626 0.00003
NM_004006.3(DMD):c.11046+11T>C rs754992621 0.00003
NM_004006.3(DMD):c.1332-11C>T rs370927319 0.00003
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys) rs758932385 0.00003
NM_004006.3(DMD):c.1482+7G>T rs766338928 0.00003
NM_004006.3(DMD):c.1813-3C>A rs181399181 0.00003
NM_004006.3(DMD):c.2292+9T>C rs766804291 0.00003
NM_004006.3(DMD):c.2293-8T>C rs377050013 0.00003
NM_004006.3(DMD):c.3051A>G (p.Lys1017=) rs747263406 0.00003
NM_004006.3(DMD):c.3096C>G (p.Leu1032=) rs770148717 0.00003
NM_004006.3(DMD):c.3114G>A (p.Glu1038=) rs143810752 0.00003
NM_004006.3(DMD):c.3132G>A (p.Glu1044=) rs758283681 0.00003
NM_004006.3(DMD):c.3177C>T (p.Thr1059=) rs755632126 0.00003
NM_004006.3(DMD):c.3182A>G (p.Lys1061Arg) rs190014284 0.00003
NM_004006.3(DMD):c.3419A>G (p.His1140Arg) rs201297190 0.00003
NM_004006.3(DMD):c.358-7C>T rs192050146 0.00003
NM_004006.3(DMD):c.3636G>A (p.Ala1212=) rs769510089 0.00003
NM_004006.3(DMD):c.3814T>C (p.Leu1272=) rs746405191 0.00003
NM_004006.3(DMD):c.4030C>T (p.Leu1344Phe) rs187617705 0.00003
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr) rs777274879 0.00003
NM_004006.3(DMD):c.4908G>A (p.Glu1636=) rs143538389 0.00003
NM_004006.3(DMD):c.5529G>A (p.Lys1843=) rs780778975 0.00003
NM_004006.3(DMD):c.5677T>C (p.Leu1893=) rs186237022 0.00003
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys) rs774825173 0.00003
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
NM_004006.3(DMD):c.6837A>C (p.Val2279=) rs1227539937 0.00003
NM_004006.3(DMD):c.7092C>T (p.Asp2364=) rs768559703 0.00003
NM_004006.3(DMD):c.7449C>T (p.Thr2483=) rs766075840 0.00003
NM_004006.3(DMD):c.8218-5T>C rs183643245 0.00003
NM_004006.3(DMD):c.8220C>T (p.Asp2740=) rs768871885 0.00003
NM_004006.3(DMD):c.8520A>G (p.Ala2840=) rs767304792 0.00003
NM_004006.3(DMD):c.8563T>C (p.Leu2855=) rs750917672 0.00003
NM_004006.3(DMD):c.8643A>G (p.Leu2881=) rs747605156 0.00003
NM_004006.3(DMD):c.8763C>T (p.His2921=) rs755037672 0.00003
NM_004006.3(DMD):c.8958G>A (p.Ala2986=) rs755815057 0.00003
NM_004006.3(DMD):c.8976G>A (p.Val2992=) rs916865376 0.00003
NM_004006.3(DMD):c.8982C>T (p.His2994=) rs1373425277 0.00003
NM_004006.3(DMD):c.9303C>T (p.Val3101=) rs368744016 0.00003
NM_004006.3(DMD):c.960+9A>G rs886038537 0.00003
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) rs542159010 0.00003
NM_004553.6(NDUFS6):c.102G>A (p.Pro34=) rs763463147 0.00003
NM_004646.4(NPHS1):c.1482G>A (p.Ser494=) rs549535993 0.00003
NM_004937.3(CTNS):c.117G>A (p.Ser39=) rs765428193 0.00003
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544 0.00003
NM_005609.4(PYGM):c.681C>T (p.Tyr227=) rs377503100 0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_005629.4(SLC6A8):c.1869C>T (p.Ser623=) rs782748657 0.00003
NM_005726.6(TSFM):c.10C>T (p.Leu4=) rs765871977 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_005957.5(MTHFR):c.18A>G (p.Arg6=) rs748686763 0.00003
NM_006019.4(TCIRG1):c.2118+10G>A rs775491643 0.00003
NM_006261.5(PROP1):c.153G>C (p.Gly51=) rs555891165 0.00003
NM_012203.2(GRHPR):c.252C>A (p.Gly84=) rs139595138 0.00003
NM_013339.4(ALG6):c.1308C>T (p.Ser436=) rs1271255207 0.00003
NM_014049.5(ACAD9):c.1533C>T (p.Thr511=) rs376637096 0.00003
NM_014049.5(ACAD9):c.1551C>T (p.Leu517=) rs751618594 0.00003
NM_014049.5(ACAD9):c.75G>T (p.Ala25=) rs564435799 0.00003
NM_014140.4(SMARCAL1):c.426G>A (p.Glu142=) rs767158204 0.00003
NM_014244.5(ADAMTS2):c.600G>A (p.Ala200=) rs761444202 0.00003
NM_014249.4(NR2E3):c.245+9G>A rs538864090 0.00003
NM_014249.4(NR2E3):c.768G>A (p.Ala256=) rs1448837236 0.00003
NM_014363.6(SACS):c.159C>G (p.Arg53=) rs968138431 0.00003
NM_014363.6(SACS):c.4098G>C (p.Leu1366=) rs200381539 0.00003
NM_014363.6(SACS):c.5458C>T (p.Leu1820=) rs754748296 0.00003
NM_014844.5(TECPR2):c.1803G>A (p.Pro601=) rs779281934 0.00003
NM_015166.4(MLC1):c.1026C>G (p.Thr342=) rs201417187 0.00003
NM_015166.4(MLC1):c.1033G>A (p.Gly345Ser) rs746212879 0.00003
NM_015272.5(RPGRIP1L):c.1103+7C>T rs761579460 0.00003
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_015627.3(LDLRAP1):c.621C>T (p.Val207=) rs554028072 0.00003
NM_017739.4(POMGNT1):c.421-9C>T rs748122023 0.00003
NM_017777.4(MKS1):c.1024+10A>G rs749001732 0.00003
NM_017777.4(MKS1):c.1260G>A (p.Leu420=) rs749099410 0.00003
NM_019098.5(CNGB3):c.1566C>T (p.Val522=) rs201787120 0.00003
NM_019098.5(CNGB3):c.183G>A (p.Thr61=) rs767130603 0.00003
NM_022124.6(CDH23):c.2994C>T (p.Ala998=) rs767831814 0.00003
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=) rs776501112 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.5610C>T (p.Val1870=) rs568993739 0.00003
NM_022124.6(CDH23):c.6855C>T (p.Asp2285=) rs750385396 0.00003
NM_022124.6(CDH23):c.6870G>A (p.Thr2290=) rs778092747 0.00003
NM_023036.6(DNAI2):c.1401C>T (p.Ile467=) rs371989598 0.00003
NM_023036.6(DNAI2):c.657C>T (p.Leu219=) rs539461253 0.00003
NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=) rs767277509 0.00003
NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=) rs757765886 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.1743G>A (p.Pro581=) rs150530553 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_025114.4(CEP290):c.3246C>T (p.His1082=) rs539042966 0.00003
NM_025215.6(PUS1):c.75-5C>T rs1363622622 0.00003
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) rs147593958 0.00003
NM_032520.5(GNPTG):c.42C>T (p.Leu14=) rs776361173 0.00003
NM_032520.5(GNPTG):c.486G>A (p.Thr162=) rs377651982 0.00003
NM_032520.5(GNPTG):c.765G>A (p.Glu255=) rs762958864 0.00003
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176 0.00003
NM_033159.4(HYAL1):c.588C>T (p.Arg196=) rs782601965 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033380.3(COL4A5):c.1827T>A (p.Gly609=) rs756142410 0.00003
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) rs368347660 0.00003
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=) rs781337825 0.00003
NM_033380.3(COL4A5):c.3684C>T (p.His1228=) rs369744863 0.00003
NM_033380.3(COL4A5):c.4175T>C (p.Leu1392Pro) rs754420396 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_057176.3(BSND):c.126C>T (p.Ser42=) rs138152773 0.00003
NM_057176.3(BSND):c.216C>A (p.Ile72=) rs755897497 0.00003
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) rs750027126 0.00003
NM_057176.3(BSND):c.696G>A (p.Arg232=) rs886046424 0.00003
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=) rs187590711 0.00003
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143 0.00003
NM_138694.4(PKHD1):c.11931C>T (p.Ser3977=) rs368081890 0.00003
NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=) rs761543328 0.00003
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=) rs1252381398 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu) rs760893545 0.00003
NM_138694.4(PKHD1):c.8325A>C (p.Thr2775=) rs753727582 0.00003
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile) rs753781360 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.2235G>A (p.Thr745=) rs557250154 0.00003
NM_152564.5(VPS13B):c.450T>C (p.Asn150=) rs746257136 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_153006.3(NAGS):c.1038C>T (p.His346=) rs754276418 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=) rs1483799016 0.00003
NM_178138.6(LHX3):c.555C>A (p.His185Gln) rs760626241 0.00003
NM_182894.3(VSX2):c.1002C>T (p.Thr334=) rs778183266 0.00003
NM_201525.4(ADGRG1):c.1146G>A (p.Leu382=) rs770806177 0.00003
NM_201525.4(ADGRG1):c.246T>C (p.Pro82=) rs768452683 0.00003
NM_201548.5(CERKL):c.1596G>A (p.Lys532=) rs752334385 0.00003
NM_206933.4(USH2A):c.11580C>T (p.Val3860=) rs762253687 0.00003
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=) rs766310214 0.00003
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=) rs192709780 0.00003
NM_206933.4(USH2A):c.7698T>C (p.Tyr2566=) rs533751971 0.00003
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=) rs571110005 0.00003
NM_206933.4(USH2A):c.9220C>T (p.Leu3074=) rs1460250943 0.00003
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.6A>C (p.Ala2=) rs752190688 0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000022.4(ADA):c.144C>T (p.Asn48=) rs189751145 0.00002
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_000033.4(ABCD1):c.1152C>T (p.Ala384=) rs782095899 0.00002
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=) rs375656638 0.00002
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659 0.00002
NM_000033.4(ABCD1):c.1839C>T (p.Ile613=) rs782618093 0.00002
NM_000033.4(ABCD1):c.2031C>T (p.Gly677=) rs782468372 0.00002
NM_000033.4(ABCD1):c.819G>A (p.Ala273=) rs782165410 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=) rs763669136 0.00002
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620 0.00002
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966 0.00002
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811 0.00002
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466 0.00002
NM_000057.4(BLM):c.1308T>C (p.Asp436=) rs140178590 0.00002
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554 0.00002
NM_000057.4(BLM):c.3237C>T (p.Asp1079=) rs148237075 0.00002
NM_000057.4(BLM):c.4128C>T (p.Ile1376=) rs1314592673 0.00002
NM_000057.4(BLM):c.918A>G (p.Glu306=) rs760806762 0.00002
NM_000070.3(CAPN3):c.2358C>T (p.Phe786=) rs576710955 0.00002
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.861A>G (p.Pro287=) rs747613100 0.00002
NM_000094.4(COL7A1):c.1494C>T (p.Thr498=) rs776229982 0.00002
NM_000094.4(COL7A1):c.8205C>T (p.Pro2735=) rs535006469 0.00002
NM_000101.4(CYBA):c.426G>A (p.Pro142=) rs771202971 0.00002
NM_000101.4(CYBA):c.453G>A (p.Pro151=) rs113033082 0.00002
NM_000108.5(DLD):c.36C>T (p.Ala12=) rs780127925 0.00002
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863 0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000117.3(EMD):c.717C>T (p.Leu239=) rs782369799 0.00002
NM_000133.4(F9):c.130C>T (p.Pro44Ser) rs776894974 0.00002
NM_000133.4(F9):c.48C>A (p.Thr16=) rs768833956 0.00002
NM_000135.4(FANCA):c.1969C>T (p.Leu657=) rs889618840 0.00002
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) rs146062039 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000136.3(FANCC):c.1248C>T (p.Ala416=) rs747051975 0.00002
NM_000136.3(FANCC):c.654G>A (p.Glu218=) rs754705988 0.00002
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690 0.00002
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850 0.00002
NM_000137.4(FAH):c.411C>T (p.Val137=) rs757871102 0.00002
NM_000137.4(FAH):c.666T>C (p.His222=) rs768359308 0.00002
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311 0.00002
NM_000151.4(G6PC1):c.960G>T (p.Leu320=) rs531727073 0.00002
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000154.2(GALK1):c.948C>T (p.Asp316=) rs370706611 0.00002
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209 0.00002
NM_000156.6(GAMT):c.486G>A (p.Pro162=) rs368650653 0.00002
NM_000159.4(GCDH):c.54C>T (p.His18=) rs747459082 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174 0.00002
NM_000195.5(HPS1):c.1896C>T (p.Ser632=) rs760508807 0.00002
NM_000202.8(IDS):c.1642T>C (p.Leu548=) rs1557337560 0.00002
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858 0.00002
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763 0.00002
NM_000203.5(IDUA):c.1224C>T (p.Ala408=) rs774488302 0.00002
NM_000203.5(IDUA):c.42G>C (p.Leu14=) rs1021970063 0.00002
NM_000206.3(IL2RG):c.201C>T (p.Val67=) rs756100347 0.00002
NM_000206.3(IL2RG):c.455-8A>G rs781649645 0.00002
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg) rs758693125 0.00002
NM_000206.3(IL2RG):c.75G>A (p.Thr25=) rs754951792 0.00002
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val) rs370007902 0.00002
NM_000232.5(SGCB):c.498C>T (p.Ile166=) rs748602445 0.00002
NM_000235.4(LIPA):c.579G>A (p.Arg193=) rs777978533 0.00002
NM_000243.3(MEFV):c.1911C>T (p.Asp637=) rs746646325 0.00002
NM_000246.4(CIITA):c.1314T>C (p.Ala438=) rs749994940 0.00002
NM_000246.4(CIITA):c.165C>T (p.Asp55=) rs776624117 0.00002
NM_000246.4(CIITA):c.963C>T (p.Cys321=) rs781290238 0.00002
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) rs1557415136 0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=) rs781784303 0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=) rs374360983 0.00002
NM_000260.4(MYO7A):c.4308C>T (p.Ile1436=) rs189972611 0.00002
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) rs750401625 0.00002
NM_000274.4(OAT):c.816T>C (p.Thr272=) rs778561122 0.00002
NM_000284.4(PDHA1):c.759+9A>G rs2643456 0.00002
NM_000287.4(PEX6):c.106C>T (p.Leu36=) rs758416830 0.00002
NM_000310.4(PPT1):c.369A>G (p.Ala123=) rs138951598 0.00002
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) rs764785488 0.00002
NM_000330.4(RS1):c.471C>T (p.Thr157=) rs754381417 0.00002
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=) rs747902103 0.00002
NM_000359.3(TGM1):c.21C>T (p.Ser7=) rs150913268 0.00002
NM_000360.4(TH):c.1377C>T (p.Phe459=) rs575305786 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.288G>C (p.Leu96=) rs151082354 0.00002
NM_000383.4(AIRE):c.423C>T (p.Ala141=) rs572002344 0.00002
NM_000383.4(AIRE):c.453C>T (p.Thr151=) rs554372593 0.00002
NM_000390.4(CHM):c.484G>A (p.Asp162Asn) rs755873471 0.00002
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) rs577520250 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000396.4(CTSK):c.30T>G (p.Pro10=) rs139004720 0.00002
NM_000397.4(CYBB):c.1137G>A (p.Ala379=) rs1435916818 0.00002
NM_000397.4(CYBB):c.1300C>T (p.Leu434=) rs781891223 0.00002
NM_000397.4(CYBB):c.1641T>C (p.Ser547=) rs771661205 0.00002
NM_000397.4(CYBB):c.452G>A (p.Ser151Asn) rs782500733 0.00002
NM_000397.4(CYBB):c.562T>C (p.Leu188=) rs782410841 0.00002
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=) rs762731834 0.00002
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=) rs148972713 0.00002
NM_000466.3(PEX1):c.897C>T (p.Asn299=) rs559305030 0.00002
NM_000466.3(PEX1):c.966T>C (p.Phe322=) rs375550740 0.00002
NM_000478.6(ALPL):c.1470C>T (p.Ile490=) rs771120248 0.00002
NM_000486.6(AQP2):c.447C>T (p.Thr149=) rs369985708 0.00002
NM_000487.6(ARSA):c.828G>A (p.Thr276=) rs370585019 0.00002
NM_000489.6(ATRX):c.1257G>A (p.Ala419=) rs185550133 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val) rs782062542 0.00002
NM_000489.6(ATRX):c.366A>G (p.Pro122=) rs782564172 0.00002
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=) rs782044671 0.00002
NM_000492.4(CFTR):c.2241G>A (p.Ala747=) rs146645194 0.00002
NM_000492.4(CFTR):c.2262G>C (p.Val754=) rs1201012182 0.00002
NM_000492.4(CFTR):c.2322A>T (p.Thr774=) rs778581398 0.00002
NM_000492.4(CFTR):c.2373A>G (p.Thr791=) rs202115503 0.00002
NM_000492.4(CFTR):c.3024C>T (p.Val1008=) rs774643457 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000492.4(CFTR):c.589T>C (p.Leu197=) rs755619078 0.00002
NM_000520.6(HEXA):c.1230C>T (p.Ala410=) rs751185874 0.00002
NM_000527.5(LDLR):c.651T>C (p.Asp217=) rs201374693 0.00002
NM_000527.5(LDLR):c.72C>T (p.Gly24=) rs774304077 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=) rs754672974 0.00002
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=) rs1406149211 0.00002
NM_000531.6(OTC):c.375G>A (p.Thr125=) rs371075231 0.00002
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514 0.00002
NM_000532.5(PCCB):c.1338C>T (p.His446=) rs958149789 0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=) rs764764261 0.00002
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) rs765555645 0.00002
NM_001127671.2(LIFR):c.552C>T (p.Leu184=) rs370454146 0.00002
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=) rs773468156 0.00002
NM_001130987.2(DYSF):c.249G>C (p.Gly83=) rs550993602 0.00002
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=) rs201966225 0.00002
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=) rs762447573 0.00002
NM_001130987.2(DYSF):c.6322-10C>G rs755660226 0.00002
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=) rs776193099 0.00002
NM_001142800.2(EYS):c.5841C>T (p.His1947=) rs772523953 0.00002
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=) rs368230090 0.00002
NM_001164508.2(NEB):c.12732A>G (p.Arg4244=) rs1396568234 0.00002
NM_001164508.2(NEB):c.16995T>C (p.Asn5665=) rs761988373 0.00002
NM_001164508.2(NEB):c.2382C>T (p.Ile794=) rs532547534 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.5697C>T (p.Thr1899=) rs761341951 0.00002
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=) rs374717947 0.00002
NM_001164508.2(NEB):c.6390C>T (p.Ala2130=) rs974601635 0.00002
NM_001164508.2(NEB):c.8556G>A (p.Val2852=) rs368155040 0.00002
NM_001164508.2(NEB):c.9133C>T (p.Leu3045Phe) rs533898172 0.00002
NM_001174089.2(SLC4A11):c.1524C>T (p.Asp508=) rs747443468 0.00002
NM_001174089.2(SLC4A11):c.2175C>T (p.Asn725=) rs372681319 0.00002
NM_001174089.2(SLC4A11):c.2253G>C (p.Leu751=) rs766549806 0.00002
NM_001174089.2(SLC4A11):c.2389-8G>A rs762782747 0.00002
NM_001174089.2(SLC4A11):c.330G>A (p.Ala110=) rs200345104 0.00002
NM_001283009.2(RTEL1):c.1659C>A (p.Pro553=) rs758544821 0.00002
NM_001283009.2(RTEL1):c.3300C>T (p.Ala1100=) rs530713870 0.00002
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808 0.00002
NM_001360.3(DHCR7):c.1134C>T (p.Ile378=) rs773505265 0.00002
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.2859T>C (p.Ser953=) rs776132941 0.00002
NM_001369.3(DNAH5):c.12129G>A (p.Thr4043=) rs779527506 0.00002
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=) rs755271975 0.00002
NM_001369.3(DNAH5):c.1836C>T (p.Tyr612=) rs1035218078 0.00002
NM_001369.3(DNAH5):c.3897T>C (p.Val1299=) rs749416187 0.00002
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=) rs556936569 0.00002
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759 0.00002
NM_001369.3(DNAH5):c.636T>G (p.Gly212=) rs376360357 0.00002
NM_001369.3(DNAH5):c.8772C>T (p.Ala2924=) rs552458966 0.00002
NM_001369.3(DNAH5):c.9918C>T (p.Ile3306=) rs373676166 0.00002
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=) rs771715883 0.00002
NM_001370658.1(BTD):c.183G>A (p.Glu61=) rs753816877 0.00002
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=) rs376258320 0.00002
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271 0.00002
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=) rs762899971 0.00002
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=) rs45630561 0.00002
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=) rs373831151 0.00002
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=) rs761599987 0.00002
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=) rs754611450 0.00002
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=) rs759705921 0.00002
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala) rs761428155 0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884 0.00002
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=) rs574095166 0.00002
NM_001384140.1(PCDH15):c.1918-6C>T rs776285978 0.00002
NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=) rs765713345 0.00002
NM_001384474.1(LOXHD1):c.4635G>A (p.Val1545=) rs531191015 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001384474.1(LOXHD1):c.78C>T (p.Tyr26=) rs1032456776 0.00002
NM_001399.5(EDA):c.135T>C (p.Gly45=) rs766017052 0.00002
NM_001673.5(ASNS):c.513G>A (p.Ala171=) rs755945639 0.00002
NM_001673.5(ASNS):c.594C>T (p.Ser198=) rs527301530 0.00002
NM_001876.4(CPT1A):c.1257G>A (p.Thr419=) rs764443409 0.00002
NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=) rs140332936 0.00002
NM_001876.4(CPT1A):c.303G>A (p.Thr101=) rs553777167 0.00002
NM_002225.5(IVD):c.1215G>A (p.Gly405=) rs752374036 0.00002
NM_002225.5(IVD):c.22C>T (p.Leu8=) rs773816252 0.00002
NM_002435.3(MPI):c.1233G>A (p.Pro411=) rs746867428 0.00002
NM_002529.4(NTRK1):c.321G>A (p.Ala107=) rs774351278 0.00002
NM_003640.5(ELP1):c.1491T>C (p.Asp497=) rs775020540 0.00002
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=) rs372541751 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004006.3(DMD):c.*59C>A rs1057520501 0.00002
NM_004006.3(DMD):c.10014A>G (p.Gln3338=) rs753610550 0.00002
NM_004006.3(DMD):c.10087-9C>G rs777590351 0.00002
NM_004006.3(DMD):c.1008G>A (p.Glu336=) rs1280118173 0.00002
NM_004006.3(DMD):c.10224-5T>C rs768272792 0.00002
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_004006.3(DMD):c.10911G>A (p.Ser3637=) rs747939733 0.00002
NM_004006.3(DMD):c.10921+5G>A rs398123848 0.00002
NM_004006.3(DMD):c.1122G>C (p.Val374=) rs769001938 0.00002
NM_004006.3(DMD):c.1333T>C (p.Leu445=) rs781105610 0.00002
NM_004006.3(DMD):c.1410A>G (p.Arg470=) rs770845328 0.00002
NM_004006.3(DMD):c.162C>T (p.Leu54=) rs904011265 0.00002
NM_004006.3(DMD):c.1812+4T>C rs777165271 0.00002
NM_004006.3(DMD):c.1920G>A (p.Thr640=) rs766895256 0.00002
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp) rs770572107 0.00002
NM_004006.3(DMD):c.2432G>A (p.Arg811Gln) rs868641814 0.00002
NM_004006.3(DMD):c.2523A>G (p.Gln841=) rs748655300 0.00002
NM_004006.3(DMD):c.2804-9T>C rs756053444 0.00002
NM_004006.3(DMD):c.2828G>A (p.Arg943His) rs398123911 0.00002
NM_004006.3(DMD):c.2842A>G (p.Met948Val) rs186628781 0.00002
NM_004006.3(DMD):c.2910C>T (p.Thr970=) rs765442122 0.00002
NM_004006.3(DMD):c.2946G>A (p.Leu982=) rs770506515 0.00002
NM_004006.3(DMD):c.297C>T (p.Ile99=) rs1004456825 0.00002
NM_004006.3(DMD):c.3498A>G (p.Leu1166=) rs767446687 0.00002
NM_004006.3(DMD):c.3510C>T (p.His1170=) rs138945423 0.00002
NM_004006.3(DMD):c.3663A>G (p.Val1221=) rs750549006 0.00002
NM_004006.3(DMD):c.3960A>G (p.Pro1320=) rs765256995 0.00002
NM_004006.3(DMD):c.4176G>A (p.Gln1392=) rs372863584 0.00002
NM_004006.3(DMD):c.4345-8C>T rs886044675 0.00002
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr) rs371646182 0.00002
NM_004006.3(DMD):c.4762G>T (p.Ala1588Ser) rs749732729 0.00002
NM_004006.3(DMD):c.4798G>C (p.Val1600Leu) rs753565464 0.00002
NM_004006.3(DMD):c.4851T>G (p.Thr1617=) rs143719666 0.00002
NM_004006.3(DMD):c.4924T>C (p.Leu1642=) rs376720373 0.00002
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser) rs1800271 0.00002
NM_004006.3(DMD):c.5493A>G (p.Gly1831=) rs1322285225 0.00002
NM_004006.3(DMD):c.5827A>G (p.Met1943Val) rs181849614 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_004006.3(DMD):c.633A>G (p.Lys211=) rs367557830 0.00002
NM_004006.3(DMD):c.6484T>C (p.Leu2162=) rs768153284 0.00002
NM_004006.3(DMD):c.6788G>A (p.Arg2263His) rs780221745 0.00002
NM_004006.3(DMD):c.7359A>G (p.Glu2453=) rs780283825 0.00002
NM_004006.3(DMD):c.7602C>T (p.Ala2534=) rs748309027 0.00002
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg) rs750640802 0.00002
NM_004006.3(DMD):c.8226A>G (p.Gln2742=) rs746514008 0.00002
NM_004006.3(DMD):c.831+10G>A rs756370588 0.00002
NM_004006.3(DMD):c.8999G>A (p.Arg3000His) rs772695216 0.00002
NM_004006.3(DMD):c.9228C>T (p.His3076=) rs761925260 0.00002
NM_004006.3(DMD):c.9510C>T (p.Asn3170=) rs751900100 0.00002
NM_004006.3(DMD):c.956C>T (p.Ser319Leu) rs765986138 0.00002
NM_004006.3(DMD):c.9834G>A (p.Ala3278=) rs749726519 0.00002
NM_004035.7(ACOX1):c.1683G>A (p.Leu561=) rs568893695 0.00002
NM_004553.6(NDUFS6):c.165G>T (p.Arg55=) rs147278612 0.00002
NM_004629.2(FANCG):c.1335G>A (p.Leu445=) rs780612204 0.00002
NM_004646.4(NPHS1):c.2148C>T (p.Leu716=) rs760024099 0.00002
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171 0.00002
NM_005629.4(SLC6A8):c.1293C>T (p.Asp431=) rs371599516 0.00002
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=) rs202136567 0.00002
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890 0.00002
NM_006118.4(HAX1):c.411G>A (p.Gln137=) rs766622654 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_006623.4(PHGDH):c.1149C>T (p.Ser383=) rs145449458 0.00002
NM_006623.4(PHGDH):c.909C>T (p.Phe303=) rs762185673 0.00002
NM_007259.5(VPS45):c.711C>T (p.His237=) rs782676481 0.00002
NM_012144.4(DNAI1):c.1167C>T (p.Leu389=) rs756277063 0.00002
NM_012144.4(DNAI1):c.1503C>T (p.Ala501=) rs377601344 0.00002
NM_012144.4(DNAI1):c.174C>T (p.Thr58=) rs752803659 0.00002
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val) rs565034311 0.00002
NM_013339.4(ALG6):c.54A>G (p.Arg18=) rs373800951 0.00002
NM_014049.5(ACAD9):c.254G>A (p.Arg85Gln) rs573257268 0.00002
NM_014049.5(ACAD9):c.694G>A (p.Val232Ile) rs371417658 0.00002
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=) rs747379387 0.00002
NM_014249.4(NR2E3):c.672G>A (p.Ser224=) rs530684859 0.00002
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=) rs144494809 0.00002
NM_014297.5(ETHE1):c.426C>T (p.Phe142=) rs566533497 0.00002
NM_014363.6(SACS):c.2472G>A (p.Ser824=) rs554395185 0.00002
NM_014363.6(SACS):c.2733C>T (p.Thr911=) rs199702597 0.00002
NM_014363.6(SACS):c.4878C>T (p.Gly1626=) rs778664565 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.7354T>C (p.Leu2452=) rs761258047 0.00002
NM_014625.4(NPHS2):c.390G>A (p.Glu130=) rs142188956 0.00002
NM_014844.5(TECPR2):c.1791C>T (p.Leu597=) rs757180768 0.00002
NM_014844.5(TECPR2):c.2697G>A (p.Leu899=) rs755040646 0.00002
NM_014844.5(TECPR2):c.3000C>T (p.Asp1000=) rs200626084 0.00002
NM_014844.5(TECPR2):c.3360T>A (p.Ala1120=) rs774314281 0.00002
NM_014844.5(TECPR2):c.4188C>T (p.Ala1396=) rs113941655 0.00002
NM_015166.4(MLC1):c.486C>T (p.Ile162=) rs754667390 0.00002
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=) rs778885314 0.00002
NM_015474.4(SAMHD1):c.342A>G (p.Thr114=) rs760417947 0.00002
NM_015506.3(MMACHC):c.765C>T (p.Pro255=) rs772078967 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015627.3(LDLRAP1):c.645A>G (p.Leu215=) rs776681796 0.00002
NM_017777.4(MKS1):c.1233T>C (p.Arg411=) rs201128765 0.00002
NM_018006.5(TRMU):c.1242T>G (p.Gly414=) rs780243289 0.00002
NM_018941.4(CLN8):c.111C>T (p.Gly37=) rs753430388 0.00002
NM_020320.5(RARS2):c.1170C>T (p.Val390=) rs780796866 0.00002
NM_020533.3(MCOLN1):c.1182G>A (p.Thr394=) rs755029960 0.00002
NM_020533.3(MCOLN1):c.1563C>T (p.Tyr521=) rs140151993 0.00002
NM_020533.3(MCOLN1):c.333C>T (p.Asp111=) rs150008188 0.00002
NM_020533.3(MCOLN1):c.338C>T (p.Ala113Val) rs201374540 0.00002
NM_020533.3(MCOLN1):c.444G>A (p.Ala148=) rs374412302 0.00002
NM_022124.6(CDH23):c.1263C>T (p.Tyr421=) rs528720730 0.00002
NM_022124.6(CDH23):c.1317C>T (p.Asp439=) rs748828988 0.00002
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663 0.00002
NM_022124.6(CDH23):c.414C>T (p.Ser138=) rs745908110 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022124.6(CDH23):c.9858C>T (p.His3286=) rs761835004 0.00002
NM_023036.6(DNAI2):c.1614C>T (p.Ala538=) rs376265471 0.00002
NM_024312.5(GNPTAB):c.1317C>T (p.Ala439=) rs781704040 0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_024649.5(BBS1):c.1695+9C>T rs756514477 0.00002
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=) rs1481341836 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025216.3(WNT10A):c.966G>C (p.Pro322=) rs767856988 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 0.00002
NM_031885.5(BBS2):c.819T>C (p.Ser273=) rs550992948 0.00002
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461 0.00002
NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=) rs773977853 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.8211+5G>A rs183316143 0.00002
NM_033305.3(VPS13A):c.900G>A (p.Glu300=) rs750958608 0.00002
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=) rs538279569 0.00002
NM_033380.3(COL4A5):c.1296G>C (p.Gly432=) rs755291471 0.00002
NM_033380.3(COL4A5):c.1810C>A (p.Pro604Thr) rs183934559 0.00002
NM_033380.3(COL4A5):c.750A>G (p.Pro250=) rs1163287222 0.00002
NM_054012.4(ASS1):c.294C>T (p.Ile98=) rs183370361 0.00002
NM_057176.3(BSND):c.417G>A (p.Pro139=) rs776717215 0.00002
NM_057176.3(BSND):c.546C>T (p.Pro182=) rs375551000 0.00002
NM_133259.4(LRPPRC):c.1075C>T (p.Leu359=) rs768509632 0.00002
NM_133259.4(LRPPRC):c.108C>T (p.Ala36=) rs751637061 0.00002
NM_133259.4(LRPPRC):c.111C>T (p.Ala37=) rs975809121 0.00002
NM_133259.4(LRPPRC):c.3411T>C (p.Pro1137=) rs765813800 0.00002
NM_138694.4(PKHD1):c.11916T>C (p.Thr3972=) rs1473205243 0.00002
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) rs1268794606 0.00002
NM_138694.4(PKHD1):c.2133C>T (p.Asn711=) rs766225439 0.00002
NM_138694.4(PKHD1):c.4200G>A (p.Ser1400=) rs767936065 0.00002
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678 0.00002
NM_138694.4(PKHD1):c.663C>T (p.Tyr221=) rs746417768 0.00002
NM_138694.4(PKHD1):c.7737G>A (p.Ala2579=) rs759139294 0.00002
NM_138694.4(PKHD1):c.873C>T (p.Thr291=) rs769773725 0.00002
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=) rs772729729 0.00002
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=) rs367648422 0.00002
NM_152443.3(RDH12):c.621T>C (p.Asn207=) rs747183193 0.00002
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=) rs749865979 0.00002
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=) rs776213275 0.00002
NM_152564.5(VPS13B):c.7893G>A (p.Ala2631=) rs145460276 0.00002
NM_152564.5(VPS13B):c.8202G>C (p.Arg2734=) rs759728712 0.00002
NM_183050.4(BCKDHB):c.36C>T (p.Leu12=) rs1464497822 0.00002
NM_201253.3(CRB1):c.1452C>T (p.Thr484=) rs372844443 0.00002
NM_206933.4(USH2A):c.1011T>C (p.Pro337=) rs146950070 0.00002
NM_206933.4(USH2A):c.1215T>C (p.Asn405=) rs745587883 0.00002
NM_206933.4(USH2A):c.13485T>A (p.Arg4495=) rs533727047 0.00002
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=) rs773859845 0.00002
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=) rs764479854 0.00002
NM_206933.4(USH2A):c.5829T>C (p.Asp1943=) rs140922350 0.00002
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=) rs766443785 0.00002
NM_000016.6(ACADM):c.126C>T (p.Thr42=) rs765625793 0.00001
NM_000016.6(ACADM):c.195A>C (p.Ala65=) rs771649282 0.00001
NM_000016.6(ACADM):c.610T>C (p.Leu204=) rs776993753 0.00001
NM_000018.4(ACADVL):c.117C>T (p.Pro39=) rs370883584 0.00001
NM_000018.4(ACADVL):c.1494T>G (p.Ala498=) rs756867868 0.00001
NM_000018.4(ACADVL):c.1575C>A (p.Val525=) rs745996278 0.00001
NM_000022.4(ADA):c.645C>T (p.Ala215=) rs748671151 0.00001
NM_000023.4(SGCA):c.132G>A (p.Thr44=) rs886044035 0.00001
NM_000023.4(SGCA):c.555C>A (p.Val185=) rs201518390 0.00001
NM_000027.4(AGA):c.177C>T (p.Ser59=) rs757480668 0.00001
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564 0.00001
NM_000030.3(AGXT):c.450G>A (p.Leu150=) rs752385061 0.00001
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=) rs149643908 0.00001
NM_000033.4(ABCD1):c.1749G>A (p.Val583=) rs1557054868 0.00001
NM_000035.4(ALDOB):c.1035C>T (p.His345=) rs761508514 0.00001
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715 0.00001
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys) rs574635615 0.00001
NM_000035.4(ALDOB):c.654T>C (p.Asn218=) rs780943027 0.00001
NM_000035.4(ALDOB):c.873T>A (p.Pro291=) rs765247994 0.00001
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808 0.00001
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810 0.00001
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013 0.00001
NM_000048.4(ASL):c.1344C>T (p.Val448=) rs144011206 0.00001
NM_000048.4(ASL):c.246C>T (p.Asn82=) rs1281983139 0.00001
NM_000048.4(ASL):c.708G>C (p.Arg236=) rs1206710088 0.00001
NM_000049.4(ASPA):c.483C>T (p.Ser161=) rs748149345 0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=) rs759106494 0.00001
NM_000049.4(ASPA):c.843G>C (p.Val281=) rs747218271 0.00001
NM_000049.4(ASPA):c.852T>C (p.Asn284=) rs370915844 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.6687C>A (p.Val2229=) rs1442555144 0.00001
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=) rs147225045 0.00001
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005 0.00001
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=) rs1557238252 0.00001
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=) rs1271447006 0.00001
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=) rs782053901 0.00001
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555 0.00001
NM_000053.4(ATP7B):c.15G>A (p.Glu5=) rs751634415 0.00001
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323 0.00001
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) rs759213674 0.00001
NM_000053.4(ATP7B):c.2985C>T (p.Val995=) rs758641148 0.00001
NM_000053.4(ATP7B):c.3291G>A (p.Val1097=) rs766632973 0.00001
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=) rs779979628 0.00001
NM_000053.4(ATP7B):c.4272T>C (p.Tyr1424=) rs780613139 0.00001
NM_000053.4(ATP7B):c.4338C>T (p.Asp1446=) rs760661082 0.00001
NM_000053.4(ATP7B):c.618T>C (p.Phe206=) rs764353593 0.00001
NM_000057.4(BLM):c.1191G>C (p.Gly397=) rs780393464 0.00001
NM_000057.4(BLM):c.1266T>C (p.Ser422=) rs1895947616 0.00001
NM_000057.4(BLM):c.1305T>C (p.Leu435=) rs778967807 0.00001
NM_000057.4(BLM):c.1536A>G (p.Gly512=) rs777277614 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.1863G>A (p.Glu621=) rs374965438 0.00001
NM_000057.4(BLM):c.204C>T (p.Thr68=) rs199927688 0.00001
NM_000057.4(BLM):c.2241A>G (p.Thr747=) rs1060503987 0.00001
NM_000057.4(BLM):c.2505C>G (p.Pro835=) rs1023396216 0.00001
NM_000057.4(BLM):c.2604G>A (p.Pro868=) rs768447097 0.00001
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612 0.00001
NM_000057.4(BLM):c.2679T>C (p.Ile893=) rs751945434 0.00001
NM_000057.4(BLM):c.2691C>T (p.Ser897=) rs756155242 0.00001
NM_000057.4(BLM):c.2868G>A (p.Pro956=) rs199861261 0.00001
NM_000057.4(BLM):c.3195T>C (p.Asn1065=) rs1297274221 0.00001
NM_000057.4(BLM):c.3345C>T (p.Val1115=) rs773893026 0.00001
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) rs372697241 0.00001
NM_000057.4(BLM):c.372C>T (p.Asn124=) rs776602757 0.00001
NM_000057.4(BLM):c.3752-6G>A rs747358693 0.00001
NM_000057.4(BLM):c.3756T>A (p.Ser1252=) rs771209895 0.00001
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) rs759000443 0.00001
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly) rs746979958 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 0.00001
NM_000057.4(BLM):c.453C>A (p.Ile151=) rs1200887609 0.00001
NM_000057.4(BLM):c.933T>C (p.Ala311=) rs1413246062 0.00001
NM_000070.3(CAPN3):c.1584C>T (p.Asn528=) rs530529988 0.00001
NM_000070.3(CAPN3):c.450C>T (p.Pro150=) rs1255302975 0.00001
NM_000071.3(CBS):c.687C>T (p.Pro229=) rs769298649 0.00001
NM_000080.4(CHRNE):c.1098C>T (p.Ala366=) rs778313885 0.00001
NM_000091.5(COL4A3):c.159T>C (p.Phe53=) rs1217941846 0.00001
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=) rs762241502 0.00001
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=) rs199554662 0.00001
NM_000091.5(COL4A3):c.2712G>A (p.Gly904=) rs781672496 0.00001
NM_000091.5(COL4A3):c.315T>C (p.Pro105=) rs371460434 0.00001
NM_000091.5(COL4A3):c.3210+8G>A rs545181831 0.00001
NM_000091.5(COL4A3):c.3690C>T (p.Pro1230=) rs375442737 0.00001
NM_000091.5(COL4A3):c.4329G>A (p.Thr1443=) rs778174094 0.00001
NM_000091.5(COL4A3):c.45G>A (p.Pro15=) rs542100614 0.00001
NM_000092.5(COL4A4):c.2511G>A (p.Gly837=) rs767522216 0.00001
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=) rs747784952 0.00001
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=) rs774011820 0.00001
NM_000094.4(COL7A1):c.1260C>T (p.Thr420=) rs1212593883 0.00001
NM_000094.4(COL7A1):c.1551C>T (p.Thr517=) rs199556963 0.00001
NM_000094.4(COL7A1):c.2124G>A (p.Arg708=) rs760735053 0.00001
NM_000094.4(COL7A1):c.2646G>A (p.Ser882=) rs770229628 0.00001
NM_000094.4(COL7A1):c.2808C>T (p.Val936=) rs1559424416 0.00001
NM_000094.4(COL7A1):c.3136C>A (p.Pro1046Thr) rs374283870 0.00001
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803 0.00001
NM_000094.4(COL7A1):c.573C>G (p.Thr191=) rs776540069 0.00001
NM_000094.4(COL7A1):c.6280-8G>A rs1343979395 0.00001
NM_000094.4(COL7A1):c.8408-6C>A rs749730480 0.00001
NM_000098.3(CPT2):c.1005T>C (p.Leu335=) rs554776730 0.00001
NM_000098.3(CPT2):c.1557G>A (p.Glu519=) rs1293579592 0.00001
NM_000098.3(CPT2):c.813A>G (p.Ala271=) rs561154406 0.00001
NM_000102.4(CYP17A1):c.276C>T (p.Asp92=) rs535575638 0.00001
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) rs35900050 0.00001
NM_000108.5(DLD):c.1101G>A (p.Glu367=) rs377345899 0.00001
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704 0.00001
NM_000108.5(DLD):c.199-4G>T rs763348101 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484 0.00001
NM_000112.4(SLC26A2):c.21G>A (p.Glu7=) rs768964077 0.00001
NM_000112.4(SLC26A2):c.858C>T (p.Leu286=) rs748677654 0.00001
NM_000112.4(SLC26A2):c.996G>A (p.Pro332=) rs376300575 0.00001
NM_000117.3(EMD):c.132G>A (p.Gln44=) rs1322660028 0.00001
NM_000117.3(EMD):c.153C>A (p.Pro51=) rs782051850 0.00001
NM_000117.3(EMD):c.582A>C (p.Ser194=) rs781933286 0.00001
NM_000133.4(F9):c.1026G>A (p.Thr342=) rs954954812 0.00001
NM_000133.4(F9):c.60A>G (p.Leu20=) rs762082146 0.00001
NM_000133.4(F9):c.9C>T (p.Arg3=) rs1335753805 0.00001
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.1776+10C>T rs767506133 0.00001
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) rs35402142 0.00001
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=) rs768306527 0.00001
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=) rs371228419 0.00001
NM_000135.4(FANCA):c.69C>T (p.Ala23=) rs746429608 0.00001
NM_000135.4(FANCA):c.90C>G (p.Val30=) rs532713581 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000136.3(FANCC):c.1305G>C (p.Gly435=) rs765092951 0.00001
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352 0.00001
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=) rs758842354 0.00001
NM_000136.3(FANCC):c.216A>G (p.Ala72=) rs1057523069 0.00001
NM_000136.3(FANCC):c.501T>C (p.Asn167=) rs1057520284 0.00001
NM_000136.3(FANCC):c.543G>A (p.Ala181=) rs758919360 0.00001
NM_000136.3(FANCC):c.882T>C (p.Val294=) rs750639831 0.00001
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647 0.00001
NM_000137.4(FAH):c.300C>T (p.Thr100=) rs567587933 0.00001
NM_000143.4(FH):c.414C>T (p.Leu138=) rs540968725 0.00001
NM_000143.4(FH):c.771T>C (p.Tyr257=) rs199909758 0.00001
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795 0.00001
NM_000151.4(G6PC1):c.726G>A (p.Gln242=) rs9905900 0.00001
NM_000152.5(GAA):c.1053G>A (p.Val351=) rs773063199 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.2097C>T (p.Leu699=) rs1381174968 0.00001
NM_000152.5(GAA):c.2392A>G (p.Ile798Val) rs752459996 0.00001
NM_000152.5(GAA):c.2424G>A (p.Pro808=) rs763272351 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000153.4(GALC):c.114G>T (p.Ala38=) rs749514611 0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028 0.00001
NM_000153.4(GALC):c.970T>C (p.Leu324=) rs1194954694 0.00001
NM_000154.2(GALK1):c.291C>G (p.Arg97=) rs368542855 0.00001
NM_000154.2(GALK1):c.858G>A (p.Arg286=) rs1349483506 0.00001
NM_000155.4(GALT):c.366T>G (p.Ala122=) rs777382338 0.00001
NM_000155.4(GALT):c.762G>A (p.Leu254=) rs748639317 0.00001
NM_000156.6(GAMT):c.414A>G (p.Pro138=) rs1376380710 0.00001
NM_000158.4(GBE1):c.2103G>A (p.Pro701=) rs775617188 0.00001
NM_000159.4(GCDH):c.1260C>T (p.His420=) rs777575306 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.727T>C (p.Leu243=) rs782453201 0.00001
NM_000170.3(GLDC):c.1359C>T (p.Ala453=) rs766839627 0.00001
NM_000170.3(GLDC):c.1917G>A (p.Gly639=) rs776998782 0.00001
NM_000170.3(GLDC):c.1941G>A (p.Pro647=) rs1232468588 0.00001
NM_000170.3(GLDC):c.2793T>A (p.Ala931=) rs367759326 0.00001
NM_000170.3(GLDC):c.63C>A (p.Arg21=) rs372141443 0.00001
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811 0.00001
NM_000182.5(HADHA):c.1389A>G (p.Glu463=) rs772078762 0.00001
NM_000182.5(HADHA):c.1854G>C (p.Leu618=) rs201393639 0.00001
NM_000182.5(HADHA):c.201G>A (p.Glu67=) rs1574626650 0.00001
NM_000182.5(HADHA):c.751C>T (p.Leu251=) rs778945181 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 0.00001
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025 0.00001
NM_000195.5(HPS1):c.1245C>T (p.Pro415=) rs879797527 0.00001
NM_000195.5(HPS1):c.2037G>A (p.Leu679=) rs773611107 0.00001
NM_000198.4(HSD3B2):c.411C>A (p.Ile137=) rs374909270 0.00001
NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln) rs751984843 0.00001
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=) rs587775183 0.00001
NM_000199.5(SGSH):c.1323G>C (p.Arg441=) rs202209795 0.00001
NM_000199.5(SGSH):c.1443C>T (p.Cys481=) rs747742566 0.00001
NM_000199.5(SGSH):c.1452C>T (p.Asp484=) rs763360021 0.00001
NM_000199.5(SGSH):c.384G>A (p.Pro128=) rs770944273 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300 0.00001
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418 0.00001
NM_000202.8(IDS):c.933C>T (p.Val311=) rs782608372 0.00001
NM_000203.5(IDUA):c.1056C>T (p.Phe352=) rs776110061 0.00001
NM_000203.5(IDUA):c.1536C>T (p.Ala512=) rs1392263774 0.00001
NM_000203.5(IDUA):c.162C>A (p.Pro54=) rs1378930636 0.00001
NM_000203.5(IDUA):c.534G>A (p.Glu178=) rs762533612 0.00001
NM_000203.5(IDUA):c.693C>T (p.Ser231=) rs529773032 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000206.3(IL2RG):c.798T>C (p.Ser266=) rs764914063 0.00001
NM_000206.3(IL2RG):c.816G>A (p.Leu272=) rs1272158575 0.00001
NM_000231.3(SGCG):c.501A>T (p.Val167=) rs560640452 0.00001
NM_000231.3(SGCG):c.615C>A (p.Ala205=) rs142409090 0.00001
NM_000235.4(LIPA):c.1050C>T (p.Val350=) rs1249046123 0.00001
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117 0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981 0.00001
NM_000237.3(LPL):c.900G>A (p.Gly300=) rs748234170 0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.801A>G (p.Thr267=) rs141455838 0.00001
NM_000246.4(CIITA):c.141C>G (p.Leu47=) rs770687816 0.00001
NM_000246.4(CIITA):c.1568G>C (p.Cys523Ser) rs200881105 0.00001
NM_000246.4(CIITA):c.2772C>T (p.Ser924=) rs1332434918 0.00001
NM_000246.4(CIITA):c.3033C>G (p.Phe1011Leu) rs576290462 0.00001
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419 0.00001
NM_000252.3(MTM1):c.447A>G (p.Pro149=) rs782149231 0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=) rs187394611 0.00001
NM_000255.4(MMUT):c.321C>T (p.Ile107=) rs570459486 0.00001
NM_000255.4(MMUT):c.423G>A (p.Ala141=) rs547142339 0.00001
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200 0.00001
NM_000260.4(MYO7A):c.2688G>A (p.Lys896=) rs782192254 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.345G>A (p.Ser115=) rs781980240 0.00001
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=) rs751497005 0.00001
NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=) rs568414079 0.00001
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=) rs375155751 0.00001
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=) rs377251326 0.00001
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00001
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453 0.00001
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=) rs752918057 0.00001
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480 0.00001
NM_000271.5(NPC1):c.1356C>T (p.Asn452=) rs758508630 0.00001
NM_000271.5(NPC1):c.2055T>C (p.Ile685=) rs199856145 0.00001
NM_000271.5(NPC1):c.2508A>G (p.Pro836=) rs1468600723 0.00001
NM_000271.5(NPC1):c.783G>A (p.Thr261=) rs770731602 0.00001
NM_000274.4(OAT):c.352A>G (p.Asn118Asp) rs367710098 0.00001
NM_000277.3(PAH):c.424C>T (p.Leu142=) rs375364629 0.00001
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928 0.00001
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 0.00001
NM_000287.4(PEX6):c.1365A>G (p.Pro455=) rs759402659 0.00001
NM_000287.4(PEX6):c.795C>G (p.Pro265=) rs545106357 0.00001
NM_000288.4(PEX7):c.297A>G (p.Lys99=) rs766858149 0.00001
NM_000288.4(PEX7):c.681C>T (p.Asp227=) rs1236779327 0.00001
NM_000289.6(PFKM):c.483G>A (p.Leu161=) rs199856938 0.00001
NM_000310.4(PPT1):c.48A>G (p.Pro16=) rs1003007171 0.00001
NM_000310.4(PPT1):c.99G>A (p.Leu33=) rs1294056746 0.00001
NM_000318.3(PEX2):c.66A>C (p.Ala22=) rs572094828 0.00001
NM_000329.3(RPE65):c.886A>C (p.Arg296=) rs1399365841 0.00001
NM_000330.4(RS1):c.213C>T (p.Phe71=) rs764292483 0.00001
NM_000330.4(RS1):c.326+8G>C rs752870628 0.00001
NM_000352.6(ABCC8):c.1818-7C>T rs17846731 0.00001
NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=) rs776975807 0.00001
NM_000359.3(TGM1):c.1539C>T (p.Phe513=) rs1383613653 0.00001
NM_000359.3(TGM1):c.2254C>T (p.Leu752=) rs985569116 0.00001
NM_000360.4(TH):c.1128C>T (p.Phe376=) rs769329337 0.00001
NM_000360.4(TH):c.1334+9G>A rs758713265 0.00001
NM_000360.4(TH):c.582C>A (p.Phe194Leu) rs555133070 0.00001
NM_000360.4(TH):c.644+10C>T rs760886341 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.96G>A (p.Pro32=) rs202167640 0.00001
NM_000370.3(TTPA):c.381T>C (p.Phe127=) rs768075601 0.00001
NM_000382.3(ALDH3A2):c.1032T>C (p.Asn344=) rs1220711241 0.00001
NM_000382.3(ALDH3A2):c.114G>A (p.Glu38=) rs919836950 0.00001
NM_000383.4(AIRE):c.1248C>G (p.Pro416=) rs74162064 0.00001
NM_000390.4(CHM):c.1929A>C (p.Thr643=) rs747278560 0.00001
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu) rs202055627 0.00001
NM_000397.4(CYBB):c.126A>G (p.Thr42=) rs782767053 0.00001
NM_000397.4(CYBB):c.30C>T (p.Leu10=) rs781966553 0.00001
NM_000397.4(CYBB):c.43A>G (p.Ile15Val) rs781809179 0.00001
NM_000397.4(CYBB):c.549G>A (p.Thr183=) rs1556468340 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=) rs770261826 0.00001
NM_000441.2(SLC26A4):c.1257G>A (p.Lys419=) rs747564818 0.00001
NM_000441.2(SLC26A4):c.135G>T (p.Thr45=) rs756029600 0.00001
NM_000441.2(SLC26A4):c.2185C>T (p.Leu729=) rs758851434 0.00001
NM_000441.2(SLC26A4):c.510A>G (p.Val170=) rs1012979539 0.00001
NM_000466.3(PEX1):c.2853T>C (p.His951=) rs768094112 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3510G>A (p.Leu1170=) rs368014758 0.00001
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806 0.00001
NM_000466.3(PEX1):c.894T>C (p.Tyr298=) rs1792856461 0.00001
NM_000481.4(AMT):c.1083G>A (p.Ala361=) rs753899057 0.00001
NM_000481.4(AMT):c.123C>T (p.Phe41=) rs774066970 0.00001
NM_000481.4(AMT):c.135C>T (p.His45=) rs773881893 0.00001
NM_000486.6(AQP2):c.297C>T (p.Ala99=) rs959834754 0.00001
NM_000486.6(AQP2):c.324G>A (p.Thr108=) rs143940351 0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904 0.00001
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131 0.00001
NM_000487.6(ARSA):c.639C>T (p.Asp213=) rs1266367694 0.00001
NM_000487.6(ARSA):c.990C>T (p.His330=) rs768366772 0.00001
NM_000489.6(ATRX):c.1206T>A (p.Ile402=) rs782635950 0.00001
NM_000489.6(ATRX):c.1492A>G (p.Arg498Gly) rs781942266 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=) rs782279780 0.00001
NM_000489.6(ATRX):c.3885G>A (p.Glu1295=) rs781858736 0.00001
NM_000489.6(ATRX):c.4002A>T (p.Pro1334=) rs782625886 0.00001
NM_000489.6(ATRX):c.4203G>A (p.Arg1401=) rs1399734659 0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=) rs782223625 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1674A>G (p.Leu558=) rs770896561 0.00001
NM_000492.4(CFTR):c.1707T>C (p.Tyr569=) rs397508278 0.00001
NM_000492.4(CFTR):c.2112A>G (p.Pro704=) rs926782023 0.00001
NM_000492.4(CFTR):c.2460A>T (p.Ile820=) rs369664216 0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) rs193922513 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000492.4(CFTR):c.3681A>G (p.Leu1227=) rs943312470 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 0.00001
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=) rs759891255 0.00001
NM_000492.4(CFTR):c.900C>A (p.Ala300=) rs146652541 0.00001
NM_000492.4(CFTR):c.927C>G (p.Ala309=) rs1800084 0.00001
NM_000492.4(CFTR):c.978A>G (p.Ala326=) rs757622174 0.00001
NM_000498.3(CYP11B2):c.142A>C (p.Arg48=) rs1361270876 0.00001
NM_000498.3(CYP11B2):c.288T>C (p.Asp96=) rs751360145 0.00001
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751 0.00001
NM_000518.5(HBB):c.60C>T (p.Asn20=) rs63750840 0.00001
NM_000520.6(HEXA):c.1477C>T (p.Leu493=) rs774313739 0.00001
NM_000525.4(KCNJ11):c.36C>T (p.Tyr12=) rs104894236 0.00001
NM_000525.4(KCNJ11):c.561G>A (p.Ala187=) rs1260020267 0.00001
NM_000527.5(LDLR):c.1239G>A (p.Thr413=) rs777011006 0.00001
NM_000527.5(LDLR):c.2389+10G>A rs780920371 0.00001
NM_000527.5(LDLR):c.2418C>A (p.Val806=) rs771705902 0.00001
NM_000527.5(LDLR):c.543G>A (p.Pro181=) rs766577671 0.00001
NM_000527.5(LDLR):c.585C>T (p.Ser195=) rs756880555 0.00001
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=) rs547133035 0.00001
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=) rs750890285 0.00001
NM_000528.4(MAN2B1):c.906C>T (p.Ala302=) rs749372996 0.00001
NM_000531.6(OTC):c.147C>T (p.Thr49=) rs144153859 0.00001
NM_000532.5(PCCB):c.942C>T (p.Tyr314=) rs572246667 0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000543.5(SMPD1):c.126G>A (p.Ala42=) rs571806745 0.00001
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=) rs554647710 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 0.00001
NM_000543.5(SMPD1):c.390T>G (p.Pro130=) rs371141815 0.00001
NM_000642.3(AGL):c.2574C>T (p.Val858=) rs772038934 0.00001
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=) rs749795206 0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) rs369278165 0.00001
NM_000709.4(BCKDHA):c.693C>T (p.Val231=) rs763610087 0.00001
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=) rs748075933 0.00001
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804 0.00001
NM_001003722.2(GLE1):c.1218C>G (p.Gly406=) rs921186375 0.00001
NM_001003722.2(GLE1):c.822C>T (p.Val274=) rs202111504 0.00001
NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=) rs1451610987 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_001033855.3(DCLRE1C):c.1510T>C (p.Leu504=) rs1213911811 0.00001
NM_001033855.3(DCLRE1C):c.1887T>C (p.His629=) rs749159797 0.00001
NM_001033855.3(DCLRE1C):c.1914T>C (p.Asn638=) rs1564362421 0.00001
NM_001039958.2(MESP2):c.669G>C (p.Pro223=) rs760409825 0.00001
NM_001042432.2(CLN3):c.33T>C (p.Phe11=) rs1555469504 0.00001
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644 0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616 0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001079866.2(BCS1L):c.966C>T (p.Thr322=) rs745785523 0.00001
NM_001122769.3(LCA5):c.1518C>T (p.Pro506=) rs769091728 0.00001
NM_001126108.2(SLC12A3):c.2172C>T (p.Leu724=) rs201038360 0.00001
NM_001126108.2(SLC12A3):c.2397C>T (p.Asp799=) rs139943829 0.00001
NM_001126108.2(SLC12A3):c.2673T>C (p.His891=) rs769641982 0.00001
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381 0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883 0.00001
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303 0.00001
NM_001130987.2(DYSF):c.297C>T (p.Ser99=) rs763710844 0.00001
NM_001130987.2(DYSF):c.312C>G (p.Ala104=) rs750834799 0.00001
NM_001130987.2(DYSF):c.315C>T (p.Pro105=) rs1203731908 0.00001
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=) rs2094956948 0.00001
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=) rs1573061003 0.00001
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=) rs759536240 0.00001
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112 0.00001
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=) rs780923865 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=) rs1308247360 0.00001
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=) rs539234900 0.00001
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=) rs754852745 0.00001
NM_001130987.2(DYSF):c.693G>A (p.Gly231=) rs775544808 0.00001
NM_001130987.2(DYSF):c.960C>T (p.Asp320=) rs771325384 0.00001
NM_001134793.2(HYLS1):c.264A>G (p.Arg88=) rs761511515 0.00001
NM_001134793.2(HYLS1):c.771T>C (p.His257=) rs953498744 0.00001
NM_001142800.2(EYS):c.3060C>T (p.Ile1020=) rs538242132 0.00001
NM_001142800.2(EYS):c.3141T>G (p.Leu1047=) rs955368246 0.00001
NM_001142800.2(EYS):c.3918A>T (p.Pro1306=) rs997369455 0.00001
NM_001142800.2(EYS):c.4347G>C (p.Leu1449=) rs1582930118 0.00001
NM_001142800.2(EYS):c.5935T>C (p.Leu1979=) rs962496239 0.00001
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881 0.00001
NM_001142800.2(EYS):c.6888T>C (p.His2296=) rs1357255596 0.00001
NM_001142800.2(EYS):c.8901C>T (p.Tyr2967=) rs1404137865 0.00001
NM_001164508.2(NEB):c.114G>A (p.Arg38=) rs1578040445 0.00001
NM_001164508.2(NEB):c.11589C>T (p.Asp3863=) rs372772607 0.00001
NM_001164508.2(NEB):c.13251A>C (p.Val4417=) rs1246456851 0.00001
NM_001164508.2(NEB):c.1614T>C (p.His538=) rs769074908 0.00001
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=) rs541088387 0.00001
NM_001164508.2(NEB):c.18762C>T (p.His6254=) rs748339284 0.00001
NM_001164508.2(NEB):c.192G>A (p.Lys64=) rs761189437 0.00001
NM_001164508.2(NEB):c.20727C>T (p.His6909=) rs779779886 0.00001
NM_001164508.2(NEB):c.21735T>C (p.Asn7245=) rs568248647 0.00001
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=) rs757845188 0.00001
NM_001164508.2(NEB):c.21976A>C (p.Arg7326=) rs780790042 0.00001
NM_001164508.2(NEB):c.22629C>T (p.Pro7543=) rs373263895 0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=) rs149606244 0.00001
NM_001164508.2(NEB):c.249C>T (p.Thr83=) rs200936927 0.00001
NM_001164508.2(NEB):c.2931C>T (p.Asp977=) rs1576205507 0.00001
NM_001164508.2(NEB):c.2979T>C (p.Phe993=) rs780408206 0.00001
NM_001164508.2(NEB):c.4218A>G (p.Lys1406=) rs754513702 0.00001
NM_001164508.2(NEB):c.4243C>T (p.Leu1415=) rs749514411 0.00001
NM_001164508.2(NEB):c.6A>T (p.Ala2=) rs778187569 0.00001
NM_001164508.2(NEB):c.7863C>T (p.Asp2621=) rs1419803549 0.00001
NM_001164508.2(NEB):c.7908C>T (p.Asp2636=) rs774348830 0.00001
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=) rs761257246 0.00001
NM_001164508.2(NEB):c.9051C>T (p.Ser3017=) rs777722290 0.00001
NM_001164508.2(NEB):c.9504C>T (p.Thr3168=) rs770587751 0.00001
NM_001174089.2(SLC4A11):c.1002C>T (p.Ile334=) rs200404341 0.00001
NM_001174089.2(SLC4A11):c.1188C>T (p.Ala396=) rs780280857 0.00001
NM_001174089.2(SLC4A11):c.1323C>T (p.Asn441=) rs575773766 0.00001
NM_001174089.2(SLC4A11):c.1578C>T (p.Ala526=) rs1247924686 0.00001
NM_001174089.2(SLC4A11):c.1623C>T (p.Leu541=) rs749478923 0.00001
NM_001174089.2(SLC4A11):c.1911G>A (p.Leu637=) rs771516809 0.00001
NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=) rs201982813 0.00001
NM_001174089.2(SLC4A11):c.44-35C>T rs777764569 0.00001
NM_001174089.2(SLC4A11):c.633G>A (p.Arg211=) rs756221460 0.00001
NM_001201543.2(FAM161A):c.1473G>A (p.Leu491=) rs551187535 0.00001
NM_001201543.2(FAM161A):c.171C>T (p.Pro57=) rs764002326 0.00001
NM_001201543.2(FAM161A):c.246T>C (p.Phe82=) rs777320853 0.00001
NM_001201543.2(FAM161A):c.678G>A (p.Arg226=) rs1442927125 0.00001
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) rs761654873 0.00001
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) rs766852572 0.00001
NM_001243279.3(ACSF3):c.738C>T (p.His246=) rs112722289 0.00001
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=) rs1178822970 0.00001
NM_001283009.2(RTEL1):c.1794C>T (p.Phe598=) rs1177652366 0.00001
NM_001283009.2(RTEL1):c.3012C>G (p.Pro1004=) rs1331174859 0.00001
NM_001283009.2(RTEL1):c.3038C>T (p.Ala1013Val) rs569586118 0.00001
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=) rs753147923 0.00001
NM_001283009.2(RTEL1):c.3138G>A (p.Gly1046=) rs762571471 0.00001
NM_001283009.2(RTEL1):c.3465G>A (p.Val1155=) rs779999962 0.00001
NM_001283009.2(RTEL1):c.3534G>A (p.Gln1178=) rs781484810 0.00001
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080 0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884 0.00001
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001360.3(DHCR7):c.442C>T (p.Leu148=) rs758693177 0.00001
NM_001360.3(DHCR7):c.45A>G (p.Leu15=) rs150214075 0.00001
NM_001360.3(DHCR7):c.771G>A (p.Ala257=) rs200232012 0.00001
NM_001365088.1(SLC12A6):c.1017T>C (p.Tyr339=) rs373193470 0.00001
NM_001369.3(DNAH5):c.10909C>T (p.Leu3637=) rs748412220 0.00001
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=) rs200744540 0.00001
NM_001369.3(DNAH5):c.12861C>T (p.Tyr4287=) rs1389988921 0.00001
NM_001369.3(DNAH5):c.1431C>T (p.His477=) rs1028207982 0.00001
NM_001369.3(DNAH5):c.3747C>T (p.Asp1249=) rs1280894186 0.00001
NM_001369.3(DNAH5):c.4083C>T (p.Pro1361=) rs149691390 0.00001
NM_001369.3(DNAH5):c.5616C>T (p.Asp1872=) rs145129897 0.00001
NM_001369.3(DNAH5):c.8682T>C (p.Pro2894=) rs761409642 0.00001
NM_001369.3(DNAH5):c.910T>C (p.Leu304=) rs754396098 0.00001
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=) rs570989221 0.00001
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=) rs1470146152 0.00001
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=) rs1439789927 0.00001
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=) rs202172921 0.00001
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=) rs1450546722 0.00001
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=) rs769083768 0.00001
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=) rs760968067 0.00001
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=) rs1572931748 0.00001
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=) rs1320005523 0.00001
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=) rs536950181 0.00001
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=) rs368947491 0.00001
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=) rs765949316 0.00001
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=) rs751020257 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00001
NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=) rs1427922641 0.00001
NM_001384140.1(PCDH15):c.198T>C (p.Ala66=) rs777099546 0.00001
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=) rs768200772 0.00001
NM_001384474.1(LOXHD1):c.3450G>A (p.Gln1150=) rs997622169 0.00001
NM_001386140.1(MTTP):c.1407C>T (p.Asp469=) rs749203075 0.00001
NM_001386140.1(MTTP):c.2532C>T (p.Tyr844=) rs781654995 0.00001
NM_001399.5(EDA):c.234T>C (p.Leu78=) rs1569272277 0.00001
NM_001673.5(ASNS):c.1674T>C (p.Ala558=) rs760440838 0.00001
NM_001692.4(ATP6V1B1):c.6C>T (p.Ala2=) rs1553415239 0.00001
NM_001875.5(CPS1):c.1029C>T (p.Asn343=) rs747138655 0.00001
NM_001875.5(CPS1):c.2601T>C (p.Ile867=) rs375325824 0.00001
NM_001875.5(CPS1):c.2771C>G (p.Thr924Ser) rs150463750 0.00001
NM_001953.5(TYMP):c.198G>A (p.Ala66=) rs1172184794 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552 0.00001
NM_002435.3(MPI):c.1242G>A (p.Leu414=) rs780975089 0.00001
NM_002435.3(MPI):c.285C>T (p.Pro95=) rs1001297444 0.00001
NM_002437.5(MPV17):c.390C>G (p.Ala130=) rs760281019 0.00001
NM_002454.3(MTRR):c.1179T>C (p.Ser393=) rs1333791112 0.00001
NM_002454.3(MTRR):c.123C>T (p.Ser41=) rs759379396 0.00001
NM_002454.3(MTRR):c.1266C>T (p.Ala422=) rs981600908 0.00001
NM_002454.3(MTRR):c.401+10G>A rs760026002 0.00001
NM_002454.3(MTRR):c.498A>G (p.Ala166=) rs747865209 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00001
NM_002529.4(NTRK1):c.1020C>T (p.Thr340=) rs781390842 0.00001
NM_002529.4(NTRK1):c.675C>T (p.Ala225=) rs1407589933 0.00001
NM_002529.4(NTRK1):c.879G>A (p.Ala293=) rs766259168 0.00001
NM_002778.4(PSAP):c.1422C>T (p.Phe474=) rs528318545 0.00001
NM_003060.4(SLC22A5):c.300G>A (p.Gly100=) rs552442289 0.00001
NM_003060.4(SLC22A5):c.318G>A (p.Gly106=) rs1214969369 0.00001
NM_003227.4(TFR2):c.1527C>T (p.Asn509=) rs201943504 0.00001
NM_003227.4(TFR2):c.177T>C (p.Pro59=) rs961591005 0.00001
NM_003227.4(TFR2):c.2277C>T (p.Pro759=) rs748376968 0.00001
NM_003227.4(TFR2):c.2400C>T (p.Asn800=) rs766681676 0.00001
NM_003227.4(TFR2):c.420C>G (p.Leu140=) rs778911966 0.00001
NM_003227.4(TFR2):c.690C>G (p.Asp230Glu) rs41303465 0.00001
NM_003494.4(DYSF):c.27C>G (p.Ala9=) rs771520271 0.00001
NM_003640.5(ELP1):c.1284A>T (p.Thr428=) rs946387194 0.00001
NM_003640.5(ELP1):c.1320T>A (p.Ala440=) rs745616203 0.00001
NM_003640.5(ELP1):c.2031G>C (p.Leu677=) rs1315300646 0.00001
NM_003640.5(ELP1):c.2394T>C (p.Pro798=) rs138819925 0.00001
NM_003640.5(ELP1):c.2454T>C (p.Leu818=) rs893395625 0.00001
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952 0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149 0.00001
NM_003640.5(ELP1):c.273C>T (p.Asp91=) rs772231917 0.00001
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=) rs1315617472 0.00001
NM_003640.5(ELP1):c.3183G>A (p.Lys1061=) rs544766218 0.00001
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=) rs780520998 0.00001
NM_003640.5(ELP1):c.3714T>C (p.His1238=) rs749975442 0.00001
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=) rs201242444 0.00001
NM_003640.5(ELP1):c.3918G>A (p.Ser1306=) rs146862778 0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882 0.00001
NM_003640.5(ELP1):c.959-8C>T rs766511916 0.00001
NM_003659.4(AGPS):c.141C>A (p.Gly47=) rs1345248171 0.00001
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=) rs750100537 0.00001
NM_003742.4(ABCB11):c.2713T>C (p.Leu905=) rs763006206 0.00001
NM_003742.4(ABCB11):c.3766-10C>T rs369104228 0.00001
NM_003907.3(EIF2B5):c.1143C>T (p.Pro381=) rs748745866 0.00001
NM_003907.3(EIF2B5):c.1329G>A (p.Leu443=) rs531966163 0.00001
NM_003907.3(EIF2B5):c.1830C>T (p.Ser610=) rs1455535271 0.00001
NM_003907.3(EIF2B5):c.600T>C (p.Asn200=) rs757699338 0.00001
NM_003982.4(SLC7A7):c.58T>C (p.Leu20=) rs1437964553 0.00001
NM_003982.4(SLC7A7):c.864A>G (p.Arg288=) rs1304389598 0.00001
NM_004004.6(GJB2):c.456C>T (p.Tyr152=) rs111033420 0.00001
NM_004006.3(DMD):c.1004T>C (p.Met335Thr) rs540761988 0.00001
NM_004006.3(DMD):c.10087-8C>A rs1261494456 0.00001
NM_004006.3(DMD):c.10146C>G (p.Thr3382=) rs766427132 0.00001
NM_004006.3(DMD):c.10160C>T (p.Ala3387Val) rs202219782 0.00001
NM_004006.3(DMD):c.10272G>A (p.Ser3424=) rs1400465644 0.00001
NM_004006.3(DMD):c.10608G>A (p.Leu3536=) rs773786369 0.00001
NM_004006.3(DMD):c.10734C>A (p.Ile3578=) rs762374364 0.00001
NM_004006.3(DMD):c.10773C>T (p.His3591=) rs768736629 0.00001
NM_004006.3(DMD):c.10797+10G>T rs1372889768 0.00001
NM_004006.3(DMD):c.1080C>T (p.Asp360=) rs1257660485 0.00001
NM_004006.3(DMD):c.10863C>T (p.Ser3621=) rs398123847 0.00001
NM_004006.3(DMD):c.1150-4T>A rs794727031 0.00001
NM_004006.3(DMD):c.1155C>T (p.Tyr385=) rs1430845292 0.00001
NM_004006.3(DMD):c.1311T>C (p.Ala437=) rs398123855 0.00001
NM_004006.3(DMD):c.1323A>G (p.Lys441=) rs754706072 0.00001
NM_004006.3(DMD):c.1464C>T (p.Arg488=) rs771891715 0.00001
NM_004006.3(DMD):c.1572C>T (p.His524=) rs779611516 0.00001
NM_004006.3(DMD):c.1660T>C (p.Leu554=) rs138371531 0.00001
NM_004006.3(DMD):c.1965C>T (p.Val655=) rs1255068879 0.00001
NM_004006.3(DMD):c.21A>G (p.Val7=) rs1374590369 0.00001
NM_004006.3(DMD):c.2226G>A (p.Leu742=) rs775246170 0.00001
NM_004006.3(DMD):c.2292+10G>A rs763586440 0.00001
NM_004006.3(DMD):c.2304A>G (p.Arg768=) rs747670491 0.00001
NM_004006.3(DMD):c.2422C>T (p.Leu808=) rs1289380956 0.00001
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys) rs778811645 0.00001
NM_004006.3(DMD):c.247G>A (p.Val83Ile) rs1358774744 0.00001
NM_004006.3(DMD):c.2520A>G (p.Gln840=) rs770324037 0.00001
NM_004006.3(DMD):c.2682C>T (p.Ser894=) rs398123904 0.00001
NM_004006.3(DMD):c.294C>T (p.Asp98=) rs965301743 0.00001
NM_004006.3(DMD):c.2950-9G>A rs772822759 0.00001
NM_004006.3(DMD):c.2955A>G (p.Leu985=) rs776362860 0.00001
NM_004006.3(DMD):c.2973G>A (p.Glu991=) rs780454571 0.00001
NM_004006.3(DMD):c.3030G>A (p.Ala1010=) rs72468666 0.00001
NM_004006.3(DMD):c.3249T>A (p.Ile1083=) rs1235726996 0.00001
NM_004006.3(DMD):c.3283G>C (p.Val1095Leu) rs183819382 0.00001
NM_004006.3(DMD):c.3360G>A (p.Glu1120=) rs754467083 0.00001
NM_004006.3(DMD):c.3387A>G (p.Thr1129=) rs765737579 0.00001
NM_004006.3(DMD):c.3472A>G (p.Lys1158Glu) rs182728059 0.00001
NM_004006.3(DMD):c.3531A>G (p.Glu1177=) rs751711333 0.00001
NM_004006.3(DMD):c.3590T>C (p.Val1197Ala) rs777955789 0.00001
NM_004006.3(DMD):c.3635C>T (p.Ala1212Val) rs142171890 0.00001
NM_004006.3(DMD):c.3777G>A (p.Lys1259=) rs1445951268 0.00001
NM_004006.3(DMD):c.3891C>T (p.Gly1297=) rs758317261 0.00001
NM_004006.3(DMD):c.396A>G (p.Gln132=) rs1421854333 0.00001
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile) rs770827878 0.00001
NM_004006.3(DMD):c.4014G>A (p.Glu1338=) rs752324539 0.00001
NM_004006.3(DMD):c.4206C>T (p.Asp1402=) rs766668051 0.00001
NM_004006.3(DMD):c.4383C>T (p.Phe1461=) rs752977828 0.00001
NM_004006.3(DMD):c.4458T>A (p.Pro1486=) rs775097950 0.00001
NM_004006.3(DMD):c.4845+7C>T rs764100658 0.00001
NM_004006.3(DMD):c.4995C>T (p.Ser1665=) rs775659020 0.00001
NM_004006.3(DMD):c.5001A>G (p.Ala1667=) rs1603631751 0.00001
NM_004006.3(DMD):c.5040C>T (p.His1680=) rs72468632 0.00001
NM_004006.3(DMD):c.531-9G>T rs780448549 0.00001
NM_004006.3(DMD):c.5370A>C (p.Ile1790=) rs748336386 0.00001
NM_004006.3(DMD):c.554G>A (p.Ser185Asn) rs1168876204 0.00001
NM_004006.3(DMD):c.555T>C (p.Ser185=) rs755537358 0.00001
NM_004006.3(DMD):c.5658T>C (p.Ala1886=) rs398123994 0.00001
NM_004006.3(DMD):c.5715G>A (p.Glu1905=) rs1304283961 0.00001
NM_004006.3(DMD):c.5728A>C (p.Arg1910=) rs761647447 0.00001
NM_004006.3(DMD):c.5739+8T>C rs1321625981 0.00001
NM_004006.3(DMD):c.5943G>A (p.Thr1981=) rs757497844 0.00001
NM_004006.3(DMD):c.5964C>T (p.Asp1988=) rs1057515869 0.00001
NM_004006.3(DMD):c.6033A>G (p.Leu2011=) rs772889861 0.00001
NM_004006.3(DMD):c.6093C>T (p.Leu2031=) rs745904383 0.00001
NM_004006.3(DMD):c.60A>G (p.Thr20=) rs771449240 0.00001
NM_004006.3(DMD):c.6138A>G (p.Gln2046=) rs780018882 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp) rs140791274 0.00001
NM_004006.3(DMD):c.6195T>C (p.Ser2065=) rs398124006 0.00001
NM_004006.3(DMD):c.6363A>G (p.Thr2121=) rs754658612 0.00001
NM_004006.3(DMD):c.6393A>G (p.Gln2131=) rs970683629 0.00001
NM_004006.3(DMD):c.639C>T (p.Leu213=) rs779201084 0.00001
NM_004006.3(DMD):c.6438+10T>C rs754382994 0.00001
NM_004006.3(DMD):c.6483A>G (p.Thr2161=) rs776054222 0.00001
NM_004006.3(DMD):c.6553T>C (p.Leu2185=) rs1326630806 0.00001
NM_004006.3(DMD):c.6921A>G (p.Arg2307=) rs756907565 0.00001
NM_004006.3(DMD):c.7083A>C (p.Gly2361=) rs1397611369 0.00001
NM_004006.3(DMD):c.7200+9G>A rs748786108 0.00001
NM_004006.3(DMD):c.7235C>T (p.Ala2412Val) rs771992420 0.00001
NM_004006.3(DMD):c.7335G>A (p.Val2445=) rs1329493987 0.00001
NM_004006.3(DMD):c.7341A>G (p.Gln2447=) rs780354773 0.00001
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr) rs764330616 0.00001
NM_004006.3(DMD):c.7543-7C>T rs184574404 0.00001
NM_004006.3(DMD):c.7620G>A (p.Lys2540=) rs1331437410 0.00001
NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg) rs972664841 0.00001
NM_004006.3(DMD):c.7956T>C (p.Ser2652=) rs757902182 0.00001
NM_004006.3(DMD):c.7962T>C (p.Asp2654=) rs374433647 0.00001
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser) rs755445214 0.00001
NM_004006.3(DMD):c.8296C>T (p.Leu2766=) rs751387739 0.00001
NM_004006.3(DMD):c.831+9T>G rs777394873 0.00001
NM_004006.3(DMD):c.832-3C>T rs777492476 0.00001
NM_004006.3(DMD):c.8355G>A (p.Lys2785=) rs772646759 0.00001
NM_004006.3(DMD):c.8502T>C (p.Ile2834=) rs1002021681 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_004006.3(DMD):c.861G>A (p.Glu287=) rs1284806719 0.00001
NM_004006.3(DMD):c.8673G>C (p.Leu2891=) rs1032573101 0.00001
NM_004006.3(DMD):c.8694G>A (p.Gln2898=) rs1162683398 0.00001
NM_004006.3(DMD):c.8836C>T (p.Leu2946=) rs776570515 0.00001
NM_004006.3(DMD):c.8847G>A (p.Lys2949=) rs185664502 0.00001
NM_004006.3(DMD):c.8865G>A (p.Val2955=) rs374478841 0.00001
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln) rs750579766 0.00001
NM_004006.3(DMD):c.894C>T (p.Ser298=) rs763011155 0.00001
NM_004006.3(DMD):c.918T>C (p.Tyr306=) rs149106712 0.00001
NM_004006.3(DMD):c.9361+8T>C rs768282679 0.00001
NM_004006.3(DMD):c.9390T>C (p.Cys3130=) rs1057523643 0.00001
NM_004006.3(DMD):c.9690C>T (p.Asp3230=) rs767474138 0.00001
NM_004006.3(DMD):c.9808-10G>A rs1060504674 0.00001
NM_004006.3(DMD):c.9828C>T (p.Ile3276=) rs757899883 0.00001
NM_004035.7(ACOX1):c.720C>T (p.Leu240=) rs764707636 0.00001
NM_004035.7(ACOX1):c.945-4G>A rs765864808 0.00001
NM_004453.4(ETFDH):c.1083C>T (p.Tyr361=) rs765063539 0.00001
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053 0.00001
NM_004453.4(ETFDH):c.507T>C (p.His169=) rs772286040 0.00001
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) rs767385265 0.00001
NM_004646.4(NPHS1):c.1899C>T (p.Thr633=) rs748680209 0.00001
NM_004646.4(NPHS1):c.18G>A (p.Thr6=) rs370650840 0.00001
NM_004646.4(NPHS1):c.3201C>T (p.Phe1067=) rs749058353 0.00001
NM_004646.4(NPHS1):c.3555G>A (p.Pro1185=) rs745445890 0.00001
NM_004646.4(NPHS1):c.549C>T (p.Ile183=) rs768989615 0.00001
NM_004937.3(CTNS):c.341G>A (p.Arg114His) rs559362332 0.00001
NM_004937.3(CTNS):c.966C>T (p.Asn322=) rs767301567 0.00001
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599 0.00001
NM_005373.3(MPL):c.273C>T (p.Tyr91=) rs759361904 0.00001
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) rs371264447 0.00001
NM_005609.4(PYGM):c.1395G>A (p.Lys465=) rs555057489 0.00001
NM_005609.4(PYGM):c.723C>T (p.Thr241=) rs772848708 0.00001
NM_005629.4(SLC6A8):c.1496-7G>A rs781814962 0.00001
NM_005629.4(SLC6A8):c.1791C>T (p.Pro597=) rs782481058 0.00001
NM_005629.4(SLC6A8):c.204C>T (p.Phe68=) rs782128137 0.00001
NM_005629.4(SLC6A8):c.522C>T (p.His174=) rs1557044433 0.00001
NM_005629.4(SLC6A8):c.533C>G (p.Thr178Ser) rs199937648 0.00001
NM_005709.4(USH1C):c.1236C>T (p.Leu412=) rs755834769 0.00001
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
NM_005957.5(MTHFR):c.157T>C (p.Leu53=) rs1205350004 0.00001
NM_005957.5(MTHFR):c.1641C>T (p.Asn547=) rs764655005 0.00001
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=) rs941382680 0.00001
NM_006019.4(TCIRG1):c.1080A>G (p.Thr360=) rs767700786 0.00001
NM_006019.4(TCIRG1):c.381C>T (p.Leu127=) rs1266423367 0.00001
NM_006096.4(NDRG1):c.855+8G>A rs776826543 0.00001
NM_006118.4(HAX1):c.505-9C>T rs779604569 0.00001
NM_006261.5(PROP1):c.456T>C (p.Ala152=) rs758911793 0.00001
NM_006493.4(CLN5):c.-109T>A rs758802850 0.00001
NM_006493.4(CLN5):c.435A>G (p.Thr145=) rs1031492461 0.00001
NM_006623.4(PHGDH):c.180C>T (p.Thr60=) rs769991971 0.00001
NM_006623.4(PHGDH):c.639G>A (p.Thr213=) rs1489385483 0.00001
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His) rs782431885 0.00001
NM_007259.5(VPS45):c.915A>G (p.Leu305=) rs1385543985 0.00001
NM_012144.4(DNAI1):c.1176C>T (p.His392=) rs1300176358 0.00001
NM_012144.4(DNAI1):c.1794C>T (p.Phe598=) rs201746512 0.00001
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val) rs771231175 0.00001
NM_012203.2(GRHPR):c.756C>T (p.Asp252=) rs777753552 0.00001
NM_012203.2(GRHPR):c.762G>A (p.Leu254=) rs201872828 0.00001
NM_012203.2(GRHPR):c.771C>T (p.Ala257=) rs367671150 0.00001
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=) rs761280692 0.00001
NM_013339.4(ALG6):c.1365G>A (p.Leu455=) rs772957444 0.00001
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=) rs886057957 0.00001
NM_014049.5(ACAD9):c.1332C>T (p.Ala444=) rs368597127 0.00001
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=) rs772732061 0.00001
NM_014049.5(ACAD9):c.1399G>A (p.Val467Ile) rs369361055 0.00001
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala) rs761565265 0.00001
NM_014140.4(SMARCAL1):c.2245-10G>T rs759266842 0.00001
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=) rs763888223 0.00001
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=) rs755396021 0.00001
NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=) rs751534116 0.00001
NM_014244.5(ADAMTS2):c.1419C>T (p.His473=) rs758260638 0.00001
NM_014244.5(ADAMTS2):c.1501A>G (p.Met501Val) rs757394676 0.00001
NM_014244.5(ADAMTS2):c.1683C>T (p.Asp561=) rs368700721 0.00001
NM_014244.5(ADAMTS2):c.1848C>T (p.Pro616=) rs569510744 0.00001
NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=) rs768036305 0.00001
NM_014244.5(ADAMTS2):c.312G>A (p.Glu104=) rs781264319 0.00001
NM_014244.5(ADAMTS2):c.3327G>A (p.Pro1109=) rs769116395 0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336 0.00001
NM_014249.4(NR2E3):c.1101-10T>C rs763647845 0.00001
NM_014249.4(NR2E3):c.123G>A (p.Val41=) rs555860015 0.00001
NM_014249.4(NR2E3):c.489G>A (p.Met163Ile) rs534156309 0.00001
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=) rs765380976 0.00001
NM_014297.5(ETHE1):c.420C>T (p.Val140=) rs374482389 0.00001
NM_014297.5(ETHE1):c.48C>G (p.Arg16=) rs775755606 0.00001
NM_014363.6(SACS):c.11535A>G (p.Glu3845=) rs750167647 0.00001
NM_014363.6(SACS):c.12606A>C (p.Thr4202=) rs780674369 0.00001
NM_014363.6(SACS):c.13119C>T (p.Asp4373=) rs368124828 0.00001
NM_014363.6(SACS):c.1683G>A (p.Val561=) rs1485932032 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1752A>G (p.Leu584=) rs368626712 0.00001
NM_014363.6(SACS):c.2278T>C (p.Leu760=) rs770454726 0.00001
NM_014363.6(SACS):c.2830T>C (p.Leu944=) rs1348417682 0.00001
NM_014363.6(SACS):c.3096G>A (p.Glu1032=) rs529746813 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014363.6(SACS):c.8922A>G (p.Leu2974=) rs563864403 0.00001
NM_014363.6(SACS):c.8931A>G (p.Leu2977=) rs376228714 0.00001
NM_014844.5(TECPR2):c.1704T>G (p.Thr568=) rs749355080 0.00001
NM_014844.5(TECPR2):c.2694C>T (p.Ala898=) rs202031176 0.00001
NM_014844.5(TECPR2):c.3486G>A (p.Thr1162=) rs747983532 0.00001
NM_014844.5(TECPR2):c.3549G>A (p.Ala1183=) rs564868110 0.00001
NM_014844.5(TECPR2):c.3744C>T (p.Pro1248=) rs373973558 0.00001
NM_014844.5(TECPR2):c.3792C>T (p.Pro1264=) rs766197921 0.00001
NM_014844.5(TECPR2):c.816G>A (p.Pro272=) rs369410138 0.00001
NM_015166.4(MLC1):c.1071C>T (p.Ser357=) rs1270153559 0.00001
NM_015166.4(MLC1):c.222C>T (p.Asn74=) rs759148867 0.00001
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944 0.00001
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=) rs770299101 0.00001
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=) rs754686404 0.00001
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=) rs556719572 0.00001
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=) rs1165700039 0.00001
NM_015474.4(SAMHD1):c.396C>T (p.Leu132=) rs1216724127 0.00001
NM_015506.3(MMACHC):c.199T>C (p.Leu67=) rs1272042617 0.00001
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015 0.00001
NM_015506.3(MMACHC):c.633C>T (p.Pro211=) rs577804554 0.00001
NM_015506.3(MMACHC):c.696C>T (p.Ala232=) rs767496391 0.00001
NM_015506.3(MMACHC):c.75C>A (p.Pro25=) rs749003802 0.00001
NM_015627.3(LDLRAP1):c.617-8C>T rs746302717 0.00001
NM_015702.3(MMADHC):c.585T>C (p.Ile195=) rs757784250 0.00001
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562 0.00001
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=) rs774554415 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017739.4(POMGNT1):c.1605-9C>T rs368345562 0.00001
NM_017739.4(POMGNT1):c.405C>T (p.Val135=) rs777809507 0.00001
NM_017739.4(POMGNT1):c.735A>G (p.Pro245=) rs139266745 0.00001
NM_018006.5(TRMU):c.1125C>T (p.Asp375=) rs779022860 0.00001
NM_018941.4(CLN8):c.75C>T (p.Ser25=) rs1276904511 0.00001
NM_018941.4(CLN8):c.795C>T (p.Phe265=) rs760610632 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020320.5(RARS2):c.660A>C (p.Ala220=) rs553502877 0.00001
NM_020320.5(RARS2):c.885A>G (p.Gly295=) rs769636930 0.00001
NM_020533.3(MCOLN1):c.*8T>C rs751699944 0.00001
NM_020533.3(MCOLN1):c.1071G>T (p.Leu357=) rs929597481 0.00001
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=) rs777036069 0.00001
NM_020533.3(MCOLN1):c.625C>T (p.Leu209Phe) rs576022241 0.00001
NM_020533.3(MCOLN1):c.840C>T (p.His280=) rs766269225 0.00001
NM_020533.3(MCOLN1):c.878-10C>T rs572407593 0.00001
NM_020533.3(MCOLN1):c.948C>T (p.Cys316=) rs759397627 0.00001
NM_022124.6(CDH23):c.3192C>T (p.Ala1064=) rs767119185 0.00001
NM_022124.6(CDH23):c.4011C>A (p.Ala1337=) rs761003107 0.00001
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=) rs554295504 0.00001
NM_022124.6(CDH23):c.4536C>A (p.Ile1512=) rs191759543 0.00001
NM_022124.6(CDH23):c.5112C>T (p.His1704=) rs774919846 0.00001
NM_022124.6(CDH23):c.7086C>T (p.Tyr2362=) rs1287792582 0.00001
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=) rs369805384 0.00001
NM_022124.6(CDH23):c.777C>A (p.Thr259=) rs542798557 0.00001
NM_022124.6(CDH23):c.9237C>T (p.Ala3079=) rs753289128 0.00001
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_024120.5(NDUFAF5):c.263+8G>A rs200867652 0.00001
NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=) rs1199767012 0.00001
NM_024120.5(NDUFAF5):c.678A>C (p.Gly226=) rs143253877 0.00001
NM_024312.5(GNPTAB):c.1530G>A (p.Ala510=) rs776105842 0.00001
NM_024312.5(GNPTAB):c.2094A>G (p.Val698=) rs778029826 0.00001
NM_024312.5(GNPTAB):c.228C>T (p.Asp76=) rs540190619 0.00001
NM_024649.5(BBS1):c.1467C>T (p.His489=) rs749008475 0.00001
NM_024649.5(BBS1):c.723+7G>A rs770220426 0.00001
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024996.7(GFM1):c.1830C>T (p.Val610=) rs139680551 0.00001
NM_024996.7(GFM1):c.2016T>C (p.His672=) rs755853174 0.00001
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=) rs747328752 0.00001
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=) rs1452561924 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=) rs746905159 0.00001
NM_025216.3(WNT10A):c.891C>G (p.Ala297=) rs748083299 0.00001
NM_025216.3(WNT10A):c.957G>T (p.Ser319=) rs774589067 0.00001
NM_032383.5(HPS3):c.2181C>T (p.Thr727=) rs573058813 0.00001
NM_032520.5(GNPTG):c.36C>T (p.Leu12=) rs1567179547 0.00001
NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=) rs200141161 0.00001
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=) rs372095792 0.00001
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=) rs547171069 0.00001
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=) rs750046579 0.00001
NM_033305.3(VPS13A):c.1734T>C (p.Val578=) rs201027855 0.00001
NM_033305.3(VPS13A):c.2304A>G (p.Gly768=) rs764549391 0.00001
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=) rs763126524 0.00001
NM_033305.3(VPS13A):c.284-4A>G rs534441636 0.00001
NM_033305.3(VPS13A):c.6102C>T (p.Phe2034=) rs569599272 0.00001
NM_033305.3(VPS13A):c.7821T>C (p.Pro2607=) rs774617189 0.00001
NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=) rs753711996 0.00001
NM_033305.3(VPS13A):c.9077+8C>T rs1325690140 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_033380.3(COL4A5):c.142-4G>T rs780759600 0.00001
NM_033380.3(COL4A5):c.1635T>G (p.Gly545=) rs1329747854 0.00001
NM_033380.3(COL4A5):c.213G>A (p.Pro71=) rs764172210 0.00001
NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys) rs762935451 0.00001
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=) rs375746429 0.00001
NM_033380.3(COL4A5):c.2657C>G (p.Ala886Gly) rs367714441 0.00001
NM_033380.3(COL4A5):c.3084C>T (p.Thr1028=) rs141043288 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_052845.4(MMAB):c.543G>A (p.Ala181=) rs145411521 0.00001
NM_054012.4(ASS1):c.1014C>T (p.Ile338=) rs749554993 0.00001
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724 0.00001
NM_054012.4(ASS1):c.261C>T (p.Tyr87=) rs749648285 0.00001
NM_054012.4(ASS1):c.711C>T (p.Asn237=) rs779981831 0.00001
NM_130849.4(SLC39A4):c.216G>A (p.Leu72=) rs782722255 0.00001
NM_133259.4(LRPPRC):c.1488+8C>G rs772715775 0.00001
NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=) rs1352013098 0.00001
NM_133259.4(LRPPRC):c.3174A>G (p.Ala1058=) rs755280196 0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502 0.00001
NM_133259.4(LRPPRC):c.777A>G (p.Arg259=) rs749089358 0.00001
NM_138694.4(PKHD1):c.10456T>C (p.Leu3486=) rs1466831280 0.00001
NM_138694.4(PKHD1):c.1131T>C (p.Ser377=) rs754777157 0.00001
NM_138694.4(PKHD1):c.11754G>T (p.Gly3918=) rs547420174 0.00001
NM_138694.4(PKHD1):c.11775G>T (p.Val3925=) rs1581731432 0.00001
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=) rs199564783 0.00001
NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=) rs1186724457 0.00001
NM_138694.4(PKHD1):c.1830T>C (p.Tyr610=) rs749293235 0.00001
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) rs1192699542 0.00001
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=) rs775144938 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.2802T>C (p.His934=) rs1046496759 0.00001
NM_138694.4(PKHD1):c.3171T>C (p.Cys1057=) rs745329565 0.00001
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=) rs751889282 0.00001
NM_138694.4(PKHD1):c.3444C>T (p.Ala1148=) rs768475335 0.00001
NM_138694.4(PKHD1):c.3774C>T (p.Pro1258=) rs765696714 0.00001
NM_138694.4(PKHD1):c.381T>C (p.Cys127=) rs755926109 0.00001
NM_138694.4(PKHD1):c.3897A>C (p.Ala1299=) rs1581812316 0.00001
NM_138694.4(PKHD1):c.4224T>C (p.Thr1408=) rs1348053835 0.00001
NM_138694.4(PKHD1):c.4647C>T (p.Tyr1549=) rs761341768 0.00001
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=) rs747933439 0.00001
NM_138694.4(PKHD1):c.5229G>A (p.Glu1743=) rs768277731 0.00001
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) rs1241103975 0.00001
NM_138694.4(PKHD1):c.5688G>A (p.Thr1896=) rs1050674532 0.00001
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=) rs755566688 0.00001
NM_138694.4(PKHD1):c.5857T>C (p.Leu1953=) rs1337056978 0.00001
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=) rs774944622 0.00001
NM_138694.4(PKHD1):c.6075T>C (p.Tyr2025=) rs199747902 0.00001
NM_138694.4(PKHD1):c.6351A>G (p.Thr2117=) rs766729223 0.00001
NM_138694.4(PKHD1):c.6789A>G (p.Leu2263=) rs756262878 0.00001
NM_138694.4(PKHD1):c.6885T>C (p.Asn2295=) rs749198425 0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156 0.00001
NM_138694.4(PKHD1):c.7989C>T (p.Asp2663=) rs950565294 0.00001
NM_138694.4(PKHD1):c.8679T>C (p.His2893=) rs1229318498 0.00001
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=) rs764734730 0.00001
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=) rs1335563220 0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=) rs1251787808 0.00001
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=) rs780309535 0.00001
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=) rs1358940142 0.00001
NM_152564.5(VPS13B):c.1077T>C (p.Tyr359=) rs541332942 0.00001
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=) rs368092348 0.00001
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=) rs749637946 0.00001
NM_152564.5(VPS13B):c.1344G>T (p.Gly448=) rs1395837319 0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) rs146450992 0.00001
NM_152564.5(VPS13B):c.5220+8T>C rs78899648 0.00001
NM_152564.5(VPS13B):c.5511A>G (p.Gln1837=) rs767953687 0.00001
NM_152564.5(VPS13B):c.6879G>A (p.Leu2293=) rs753494412 0.00001
NM_152564.5(VPS13B):c.7047A>G (p.Leu2349=) rs201133836 0.00001
NM_152564.5(VPS13B):c.7247+9T>C rs545008110 0.00001
NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=) rs758044842 0.00001
NM_152564.5(VPS13B):c.9298C>T (p.Leu3100=) rs780381150 0.00001
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=) rs1383239374 0.00001
NM_152564.5(VPS13B):c.9585G>A (p.Gly3195=) rs1334078728 0.00001
NM_152618.3(BBS12):c.243T>C (p.Tyr81=) rs772942987 0.00001
NM_152618.3(BBS12):c.624A>G (p.Ala208=) rs1423331367 0.00001
NM_153676.4(USH1C):c.2400C>T (p.Asp800=) rs139787873 0.00001
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 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.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_172250.3(MMAA):c.734-8A>G rs778057240 0.00001
NM_174878.3(CLRN1):c.270C>G (p.Leu90=) rs143232961 0.00001
NM_174878.3(CLRN1):c.540G>A (p.Thr180=) rs774615126 0.00001
NM_178138.6(LHX3):c.79+1933G>C rs1391957672 0.00001
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576 0.00001
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu) rs752083773 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_182760.4(SUMF1):c.48G>C (p.Leu16=) rs921740271 0.00001
NM_182760.4(SUMF1):c.78G>A (p.Ser26=) rs534380202 0.00001
NM_183050.4(BCKDHB):c.90G>A (p.Gly30=) rs553058134 0.00001
NM_201253.3(CRB1):c.1206T>C (p.Ser402=) rs373229699 0.00001
NM_201253.3(CRB1):c.1479C>T (p.Phe493=) rs770919155 0.00001
NM_201253.3(CRB1):c.1752C>T (p.Asp584=) rs750442312 0.00001
NM_201253.3(CRB1):c.1977G>A (p.Ser659=) rs1457627160 0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) rs774597710 0.00001
NM_201253.3(CRB1):c.207C>T (p.Asn69=) rs1302750453 0.00001
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=) rs1192399919 0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757 0.00001
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=) rs374426440 0.00001
NM_201253.3(CRB1):c.763C>T (p.Leu255=) rs1659649148 0.00001
NM_201253.3(CRB1):c.957T>C (p.Ser319=) rs765228022 0.00001
NM_201525.4(ADGRG1):c.1143C>T (p.His381=) rs746825547 0.00001
NM_201525.4(ADGRG1):c.1200G>A (p.Lys400=) rs760911899 0.00001
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=) rs768769972 0.00001
NM_201525.4(ADGRG1):c.1560C>T (p.Phe520=) rs548451753 0.00001
NM_201525.4(ADGRG1):c.2049G>A (p.Ser683=) rs771915499 0.00001
NM_201525.4(ADGRG1):c.553C>T (p.Leu185=) rs138495764 0.00001
NM_201525.4(ADGRG1):c.831G>A (p.Thr277=) rs552642182 0.00001
NM_206933.4(USH2A):c.10950A>G (p.Pro3650=) rs372690499 0.00001
NM_206933.4(USH2A):c.12045C>T (p.Thr4015=) rs755924483 0.00001
NM_206933.4(USH2A):c.12369T>C (p.Asp4123=) rs779194517 0.00001
NM_206933.4(USH2A):c.12585C>T (p.Phe4195=) rs763205825 0.00001
NM_206933.4(USH2A):c.12876T>C (p.Asn4292=) rs762246558 0.00001
NM_206933.4(USH2A):c.13236G>A (p.Gln4412=) rs1013791595 0.00001
NM_206933.4(USH2A):c.3762C>A (p.Ile1254=) rs533691745 0.00001
NM_206933.4(USH2A):c.6780C>G (p.Ser2260=) rs762148018 0.00001
NM_206933.4(USH2A):c.705A>G (p.Thr235=) rs767897482 0.00001
NM_206933.4(USH2A):c.7230A>T (p.Val2410=) rs202162396 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.9528T>G (p.Pro3176=) rs781101196 0.00001
NM_206933.4(USH2A):c.9714T>C (p.Ser3238=) rs979950007 0.00001
NM_000016.6(ACADM):c.118+114A>G rs875989868
NM_000016.6(ACADM):c.579C>T (p.Thr193=) rs534575785
NM_000018.4(ACADVL):c.1605+7G>C rs572010910
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.19T>C (p.Leu7=) rs2111028551
NM_000030.3(AGXT):c.840G>A (p.Ala280=) rs143295006
NM_000033.4(ABCD1):c.-20C>T rs782004770
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=) rs782419455
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His) rs782159028
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu) rs782327280
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.696G>A (p.Ala232=) rs147595334
NM_000048.4(ASL):c.399G>C (p.Ser133=) rs141584041
NM_000048.4(ASL):c.741G>A (p.Ser247=) rs371927473
NM_000048.4(ASL):c.99C>G (p.His33Gln) rs142077823
NM_000051.4(ATM):c.15T>G (p.Leu5=) rs1357506783
NM_000051.4(ATM):c.2031T>C (p.Ser677=) rs1591534580
NM_000051.4(ATM):c.2754T>C (p.Phe918=) rs758955717
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.4(ATM):c.5268A>T (p.Thr1756=) rs1591708913
NM_000051.4(ATM):c.5958T>A (p.Ile1986=) rs2136060867
NM_000051.4(ATM):c.6100C>A (p.Arg2034=) rs532480170
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=) rs372489000
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) rs149079962
NM_000053.4(ATP7B):c.-396C>G rs145371060
NM_000053.4(ATP7B):c.1164G>A (p.Gln388=) rs2140070526
NM_000053.4(ATP7B):c.1762A>C (p.Arg588=) rs1566559391
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.540C>T (p.Asn180=) rs537892210
NM_000053.4(ATP7B):c.879G>A (p.Glu293=) rs1593789326
NM_000057.4(BLM):c.1305T>G (p.Leu435=) rs778967807
NM_000057.4(BLM):c.1362T>C (p.Asn454=) rs1156488243
NM_000057.4(BLM):c.234C>T (p.Pro78=) rs970793829
NM_000057.4(BLM):c.3180T>C (p.Asp1060=) rs749458622
NM_000057.4(BLM):c.348G>A (p.Lys116=) rs749535664
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
NM_000057.4(BLM):c.3948C>T (p.Asp1316=) rs375896520
NM_000057.4(BLM):c.3957A>T (p.Ile1319=) rs1555425082
NM_000057.4(BLM):c.486T>C (p.Thr162=) rs1596218608
NM_000057.4(BLM):c.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.930T>C (p.Ser310=) rs1471248156
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=) rs111806046
NM_000071.3(CBS):c.1089G>A (p.Glu363=) rs1601343953
NM_000071.3(CBS):c.1290C>T (p.Thr430=) rs746564702
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.3(CBS):c.667-10_667-7del rs376011228
NM_000071.3(CBS):c.747C>T (p.Asp249=) rs1601356424
NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer) rs1555874223
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.132G>A (p.Glu44=) rs2151098887
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.802+9T>C rs199876621
NM_000091.5(COL4A3):c.1368T>C (p.Tyr456=) rs766591906
NM_000091.5(COL4A3):c.1887G>A (p.Thr629=) rs201109911
NM_000091.5(COL4A3):c.2184G>A (p.Glu728=) rs779837475
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.5(COL4A3):c.567T>A (p.Gly189=) rs2125924539
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=) rs762735176
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3974-12dup rs200823182
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.4809+7dup rs759784585
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000094.4(COL7A1):c.1032G>C (p.Leu344=) rs946311662
NM_000094.4(COL7A1):c.2050+8C>A rs200654405
NM_000094.4(COL7A1):c.2553C>A (p.Arg851=) rs577279100
NM_000094.4(COL7A1):c.2634C>T (p.Arg878=) rs201412774
NM_000094.4(COL7A1):c.2817A>T (p.Pro939=) rs1264194
NM_000094.4(COL7A1):c.291T>C (p.Leu97=) rs2107802175
NM_000094.4(COL7A1):c.4968G>A (p.Glu1656=) rs779192809
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=) rs144700737
NM_000094.4(COL7A1):c.7080G>A (p.Gly2360=) rs768904830
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.8010G>T (p.Ser2670=) rs557077483
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser) rs140041143
NM_000098.3(CPT2):c.1234G>T (p.Val412Leu) rs575447822
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000101.4(CYBA):c.468G>C (p.Pro156=) rs964575579
NM_000103.4(CYP19A1):c.1458C>T (p.Asn486=) rs1380261840
NM_000108.5(DLD):c.439-6G>C rs369208046
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.750T>C (p.Asp250=) rs1180284436
NM_000126.4(ETFA):c.702A>G (p.Leu234=) rs775620228
NM_000128.4(F11):c.1518T>C (p.Asp506=) rs367580331
NM_000133.4(F9):c.507C>G (p.Ser169=) rs565055999
NM_000133.4(F9):c.7C>T (p.Arg3Cys) rs766259893
NM_000135.4(FANCA):c.1123T>C (p.Leu375=) rs2040093515
NM_000135.4(FANCA):c.12G>T (p.Ser4=) rs1009539881
NM_000135.4(FANCA):c.1986C>A (p.Ala662=) rs568935135
NM_000135.4(FANCA):c.255C>A (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=) rs1051421921
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.69C>G (p.Ala23=) rs746429608
NM_000135.4(FANCA):c.826+10T>C rs536052530
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1071A>G (p.Gln357=) rs1057522128
NM_000136.3(FANCC):c.1107G>A (p.Lys369=) rs1321399501
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1254C>T (p.Pro418=) rs1057521431
NM_000136.3(FANCC):c.1264C>T (p.Leu422=) rs756716463
NM_000136.3(FANCC):c.1467C>T (p.His489=) rs1554828385
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1524C>T (p.Val508=) rs765766432
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.222T>C (p.Ala74=) rs1554857821
NM_000136.3(FANCC):c.336C>T (p.Ser112=) rs1057521125
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.738C>T (p.His246=) rs1414558793
NM_000137.4(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000143.4(FH):c.105G>C (p.Ser35=) rs181655698
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) rs1555560144
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000152.5(GAA):c.1377C>T (p.Asp459=) rs778121058
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.18G>A (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1935C>T (p.Asp645=) rs28940868
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2451C>T (p.His817=) rs753382861
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000153.4(GALC):c.117C>G (p.Pro39=) rs962360205
NM_000153.4(GALC):c.144C>T (p.Ser48=) rs764548631
NM_000154.2(GALK1):c.363C>A (p.Pro121=) rs779234943
NM_000155.4(GALT):c.414G>A (p.Thr138=) rs116479817
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.480G>A (p.Glu160=) rs1587238612
NM_000157.4(GBA1):c.1347G>C (p.Thr449=) rs750193229
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000159.4(GCDH):c.51G>A (p.Leu17=) rs772706462
NM_000159.4(GCDH):c.84G>A (p.Ala28=) rs751454066
NM_000170.3(GLDC):c.1167G>C (p.Ala389=) rs199901045
NM_000170.3(GLDC):c.1262-4G>A rs549797631
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr) rs141601131
NM_000170.3(GLDC):c.1927-4G>A rs576723612
NM_000170.3(GLDC):c.2316-13_2316-12dup rs3215923
NM_000170.3(GLDC):c.66G>C (p.Leu22=) rs1337924090
NM_000170.3(GLDC):c.66G>T (p.Leu22=) rs1337924090
NM_000170.3(GLDC):c.81G>A (p.Gly27=) rs1457809070
NM_000182.5(HADHA):c.1971G>A (p.Ala657=) rs570854524
NM_000182.5(HADHA):c.2220T>C (p.Tyr740=) rs142120825
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.198G>C (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg) rs11592273
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=) rs757957605
NM_000198.4(HSD3B2):c.867G>C (p.Leu289=) rs1292390178
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1338C>T (p.His446=) rs762208419
NM_000199.5(SGSH):c.1449C>T (p.Pro483=) rs779836312
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.540C>A (p.Pro180=) rs749721134
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000203.5(IDUA):c.1449C>T (p.Pro483=) rs761637332
NM_000203.5(IDUA):c.1479C>G (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.590-8C>G rs6848974
NM_000203.5(IDUA):c.675C>T (p.Phe225=) rs767436466
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000235.4(LIPA):c.428+8T>G rs554238064
NM_000237.3(LPL):c.213C>G (p.His71Gln) rs11542065
NM_000237.3(LPL):c.72G>C (p.Gly24=) rs1175832133
NM_000237.3(LPL):c.744T>C (p.Ala248=) rs757675785
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1764G>T (p.Pro588=) rs1231122
NM_000243.3(MEFV):c.1818C>T (p.Thr606=) rs104895213
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000246.4(CIITA):c.1044G>C (p.Thr348=) rs140683241
NM_000246.4(CIITA):c.1416G>T (p.Leu472=) rs757999354
NM_000246.4(CIITA):c.1431C>G (p.Leu477=) rs756459269
NM_000246.4(CIITA):c.1557G>A (p.Pro519=) rs924677218
NM_000246.4(CIITA):c.1758G>A (p.Gly586=) rs1596552734
NM_000246.4(CIITA):c.1803G>C (p.Arg601=) rs758215284
NM_000246.4(CIITA):c.1878G>A (p.Glu626=) rs1310021692
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.4(CIITA):c.2322C>A (p.Leu774=) rs77072504
NM_000246.4(CIITA):c.3123G>T (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.531C>T (p.Ser177=) rs188055251
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr) rs116253192
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.912C>T (p.Ala304=) rs782504569
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.651C>A (p.Ile217=) rs1581834838
NM_000255.4(MMUT):c.754-17dup rs750770186
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=) rs543234546
NM_000260.4(MYO7A):c.4568+10C>A rs367801483
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000271.5(NPC1):c.1318C>T (p.Leu440=) rs1390796169
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG rs772150994
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000274.4(OAT):c.1138A>G (p.Ile380Val) rs545710763
NM_000274.4(OAT):c.1305C>T (p.Thr435=) rs528039246
NM_000277.3(PAH):c.1134T>C (p.Thr378=) rs1874693005
NM_000282.4(PCCA):c.18C>T (p.Val6=) rs752423629
NM_000282.4(PCCA):c.9G>C (p.Gly3=) rs547209141
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer) rs1555935577
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.336G>T (p.Leu112=) rs1194598013
NM_000287.4(PEX6):c.855C>A (p.Pro285=) rs757897959
NM_000287.4(PEX6):c.948A>T (p.Pro316=) rs781704566
NM_000288.4(PEX7):c.748-4G>T rs74658757
NM_000289.6(PFKM):c.1063-6C>G rs371033104
NM_000289.6(PFKM):c.1192-5T>C rs778432092
NM_000318.3(PEX2):c.717C>T (p.Thr239=) rs2132043284
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000352.6(ABCC8):c.1716G>T (p.Ser572=) rs750619309
NM_000352.6(ABCC8):c.2163G>A (p.Ser721=) rs201724038
NM_000352.6(ABCC8):c.3309G>T (p.Arg1103=) rs1321810156
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=) rs574684578
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=) rs373478721
NM_000359.3(TGM1):c.687C>T (p.Asp229=) rs143352384
NM_000359.3(TGM1):c.78GCCAGA[4] (p.26EP[4]) rs762513810
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1188C>T (p.Tyr396=) rs375428556
NM_000360.4(TH):c.576+8G>T rs372753775
NM_000360.4(TH):c.81G>A (p.Glu27=) rs139742336
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000383.4(AIRE):c.708C>T (p.Phe236=) rs908180454
NM_000383.4(AIRE):c.783C>T (p.Ala261=) rs777866382
NM_000390.4(CHM):c.1920G>A (p.Lys640=) rs748006115
NM_000390.4(CHM):c.591T>C (p.Ser197=) rs1429958944
NM_000390.4(CHM):c.6G>T (p.Ala2=) rs773939161
NM_000397.4(CYBB):c.1032C>G (p.Ser344=) rs782193225
NM_000397.4(CYBB):c.27G>T (p.Gly9=) rs979166608
NM_000441.2(SLC26A4):c.2163G>C (p.Thr721=) rs375151702
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000466.3(PEX1):c.1056G>A (p.Val352=) rs1348024001
NM_000466.3(PEX1):c.1152A>G (p.Leu384=) rs776933950
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.1338G>A (p.Lys446=) rs543863652
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.2565T>G (p.Thr855=) rs1472376635
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.711T>A (p.Val237=) rs758443247
NM_000478.6(ALPL):c.1290T>C (p.Asn430=) rs200330153
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.369C>A (p.Ala123=) rs201342272
NM_000478.6(ALPL):c.831C>T (p.Thr277=) rs1458491740
NM_000486.6(AQP2):c.768G>C (p.Ser256=) rs771955610
NM_000489.6(ATRX):c.1827A>G (p.Pro609=) rs1603222884
NM_000489.6(ATRX):c.1938A>G (p.Leu646=) rs2148611303
NM_000489.6(ATRX):c.3417T>C (p.Asn1139=) rs1603216127
NM_000489.6(ATRX):c.4318-10A>C rs781946372
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del) rs587780288
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.6699+10T>C rs1602531185
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000492.4(CFTR):c.1047G>T (p.Ala349=) rs200520623
NM_000492.4(CFTR):c.1176A>G (p.Val392=) rs542860881
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000492.4(CFTR):c.1353A>G (p.Gly451=) rs1220983447
NM_000492.4(CFTR):c.1746A>C (p.Thr582=) rs751058333
NM_000492.4(CFTR):c.1950C>T (p.Phe650=) rs200204024
NM_000492.4(CFTR):c.2313C>T (p.Asn771=) rs768301278
NM_000492.4(CFTR):c.2694T>C (p.Ser898=) rs2116061252
NM_000492.4(CFTR):c.390C>G (p.Leu130=) rs1411911535
NM_000492.4(CFTR):c.3996T>C (p.Pro1332=) rs2116220796
NM_000492.4(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000498.3(CYP11B2):c.1227G>T (p.Ser409=) rs61757291
NM_000498.3(CYP11B2):c.768C>T (p.His256=) rs748615718
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.5(HBB):c.-10_-7del rs34196559
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000520.6(HEXA):c.13A>C (p.Arg5=) rs1595816387
NM_000520.6(HEXA):c.51A>C (p.Ala17=) rs2140344816
NM_000525.4(KCNJ11):c.309C>T (p.Ser103=) rs376773562
NM_000527.5(LDLR):c.1026C>T (p.Asp342=) rs780563386
NM_000527.5(LDLR):c.1083C>T (p.Pro361=) rs567564778
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2496A>G (p.Thr832=) rs1600765476
NM_000527.5(LDLR):c.2547+9C>T rs746674813
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000531.6(OTC):c.762G>A (p.Ala254=) rs1388386866
NM_000532.5(PCCB):c.141G>A (p.Leu47=) rs1378807952
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.348C>T (p.Ser116=) rs767122852
NM_000543.5(SMPD1):c.567A>G (p.Lys189=) rs750187574
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000642.3(AGL):c.2497C>A (p.Gln833Lys) rs757870729
NM_000709.4(BCKDHA):c.115C>T (p.Pro39Ser) rs750739703
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=) rs1268917075
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=) rs911534514
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=) rs770631614
NM_001003722.2(GLE1):c.384G>A (p.Val128=) rs768968019
NM_001003722.2(GLE1):c.946C>A (p.Arg316=) rs749236753
NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=) rs554005632
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=) rs1585413228
NM_001017420.3(ESCO2):c.405G>A (p.Lys135=) rs767762209
NM_001017420.3(ESCO2):c.765T>C (p.Phe255=) rs780741900
NM_001017420.3(ESCO2):c.768G>A (p.Ala256=) rs372611248
NM_001033855.3(DCLRE1C):c.1455T>C (p.Asp485=) rs747435874
NM_001033855.3(DCLRE1C):c.1743A>G (p.Thr581=) rs750453725
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=) rs768414966
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=) rs138120763
NM_001039958.2(MESP2):c.1122C>A (p.Gly374=) rs765218369
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.498C>A (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.693C>T (p.Ala231=) rs901621478
NM_001039958.2(MESP2):c.966T>G (p.Ala322=) rs768285654
NM_001042432.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_001079802.2(FKTN):c.1023G>T (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001122769.3(LCA5):c.1242A>G (p.Arg414=) rs1769717155
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001122769.3(LCA5):c.1785T>A (p.Ile595=) rs544388502
NM_001122769.3(LCA5):c.642C>T (p.His214=) rs541395332
NM_001122769.3(LCA5):c.735C>T (p.Asn245=) rs781334192
NM_001122769.3(LCA5):c.759C>T (p.Phe253=) rs528612334
NM_001126108.2(SLC12A3):c.2076C>T (p.Ile692=) rs780880719
NM_001126108.2(SLC12A3):c.2285+10_2285+12del rs562443353
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.143-5_143-3del rs778581246
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.408C>T (p.Pro136=) rs1182440042
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=) rs1476328093
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) rs751456837
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=) rs963646326
NM_001130987.2(DYSF):c.5174+8G>A rs1573054048
NM_001130987.2(DYSF):c.852G>A (p.Thr284=) rs1454893867
NM_001134793.2(HYLS1):c.675A>G (p.Ser225=) rs763523610
NM_001142800.2(EYS):c.3126C>T (p.Asn1042=) rs368790430
NM_001142800.2(EYS):c.3417T>C (p.Asp1139=) rs1238692406
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=) rs556671009
NM_001142800.2(EYS):c.7369C>T (p.Leu2457=) rs551500915
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=) rs782547500
NM_001164508.2(NEB):c.10591T>C (p.Leu3531=) rs2098336175
NM_001164508.2(NEB):c.12426C>T (p.Leu4142=) rs1320574868
NM_001164508.2(NEB):c.12474C>T (p.Thr4158=) rs1579059705
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.12720C>T (p.Ala4240=) rs1579015882
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001164508.2(NEB):c.1314C>T (p.Phe438=) rs765769921
NM_001164508.2(NEB):c.13185T>C (p.Pro4395=) rs1344892267
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13317T>C (p.Ala4439=) rs1578873204
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001164508.2(NEB):c.13548T>G (p.Pro4516=) rs1578803539
NM_001164508.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001164508.2(NEB):c.13737C>T (p.Pro4579=) rs1578801445
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.168A>G (p.Ala56=) rs200297299
NM_001164508.2(NEB):c.17049G>A (p.Ala5683=) rs140688592
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.18852T>C (p.Asn6284=) rs1362922636
NM_001164508.2(NEB):c.25236A>G (p.Ser8412=) rs1574544943
NM_001164508.2(NEB):c.5055C>A (p.Thr1685=) rs1575578013
NM_001164508.2(NEB):c.7831T>C (p.Leu2611=) rs772164378
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=) rs1600561128
NM_001174089.2(SLC4A11):c.2232C>T (p.Gly744=) rs758751670
NM_001174089.2(SLC4A11):c.882C>T (p.His294=) rs973038358
NM_001201543.2(FAM161A):c.177G>A (p.Gly59=) rs752470299
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=) rs1047268029
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=) rs768799062
NM_001283009.2(RTEL1):c.1302G>A (p.Thr434=) rs200709485
NM_001283009.2(RTEL1):c.2229A>G (p.Arg743=) rs1601170877
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=) rs116624637
NM_001283009.2(RTEL1):c.2370G>A (p.Lys790=) rs553827008
NM_001283009.2(RTEL1):c.2662G>C (p.Val888Leu) rs200505378
NM_001283009.2(RTEL1):c.2799C>T (p.Ala933=) rs929062749
NM_001283009.2(RTEL1):c.2832G>A (p.Lys944=) rs147040733
NM_001283009.2(RTEL1):c.2871G>A (p.Arg957=) rs1282351226
NM_001283009.2(RTEL1):c.2937G>C (p.Arg979=) rs768689934
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.3295T>C (p.Leu1099=) rs771667984
NM_001283009.2(RTEL1):c.3303C>G (p.Ala1101=) rs776426684
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=) rs6062495
NM_001283009.2(RTEL1):c.594C>G (p.Val198=) rs774564498
NM_001283009.2(RTEL1):c.675G>T (p.Pro225=) rs762854518
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.804G>A (p.Lys268=) rs1228716242
NM_001360.3(DHCR7):c.282G>A (p.Arg94=) rs541593878
NM_001360.3(DHCR7):c.465C>T (p.His155=) rs1949346657
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001365088.1(SLC12A6):c.1632G>A (p.Gly544=) rs538172969
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.11815C>T (p.Leu3939=) rs764968328
NM_001369.3(DNAH5):c.12384C>T (p.Leu4128=) rs772828833
NM_001369.3(DNAH5):c.12765C>T (p.Val4255=) rs561983296
NM_001369.3(DNAH5):c.13095G>A (p.Glu4365=) rs372604448
NM_001369.3(DNAH5):c.13569C>T (p.Asp4523=) rs151080414
NM_001369.3(DNAH5):c.159C>T (p.Thr53=) rs773322142
NM_001369.3(DNAH5):c.1602C>T (p.Asp534=) rs753367747
NM_001369.3(DNAH5):c.1647C>T (p.Asn549=) rs139160176
NM_001369.3(DNAH5):c.5272-9C>T rs555481241
NM_001369.3(DNAH5):c.7335C>T (p.Tyr2445=) rs2127026828
NM_001369.3(DNAH5):c.8316A>G (p.Arg2772=) rs751595453
NM_001371596.2(MFSD8):c.1351-9C>A rs75039907
NM_001371596.2(MFSD8):c.63-4del rs755011754
NM_001378454.1(ALMS1):c.10774A>C (p.Thr3592Pro) rs200467041
NM_001378454.1(ALMS1):c.11820C>G (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.1602T>G (p.Thr534=) rs757654976
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5673A>T (p.Ala1891=) rs1572936907
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His) rs146669152
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=) rs1572938980
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=) rs746168704
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=) rs1467835066
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=) rs201560634
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=) rs2103892303
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=) rs1175450599
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=) rs1573000980
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=) rs760947833
NM_001384140.1(PCDH15):c.297C>G (p.Thr99=) rs762026724
NM_001384140.1(PCDH15):c.3450C>T (p.Ile1150=) rs146374856
NM_001384140.1(PCDH15):c.4308G>T (p.Pro1436=) rs1160719926
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384474.1(LOXHD1):c.2766G>A (p.Lys922=) rs552637512
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001386140.1(MTTP):c.2340T>C (p.Asn780=) rs1578257346
NM_001399.5(EDA):c.354G>C (p.Pro118=) rs762842929
NM_001673.5(ASNS):c.1626C>T (p.Ile542=) rs1584455597
NM_001673.5(ASNS):c.591A>C (p.Ala197=) rs141969298
NM_001875.5(CPS1):c.2709C>A (p.Thr903=) rs774243804
NM_001875.5(CPS1):c.334C>T (p.Leu112=) rs149675371
NM_001875.5(CPS1):c.3465G>A (p.Ala1155=) rs772806744
NM_001876.4(CPT1A):c.1459-6dup rs767372374
NM_001876.4(CPT1A):c.309C>T (p.Asn103=) rs200536266
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn) rs570438867
NM_002076.4(GNS):c.132C>G (p.Thr44=) rs1592514574
NM_002454.3(MTRR):c.1932C>T (p.Asn644=) rs374659219
NM_002454.3(MTRR):c.2016T>C (p.Val672=) rs1162603124
NM_002454.3(MTRR):c.993G>C (p.Leu331=) rs777698463
NM_002485.5(NBN):c.105T>A (p.Ile35=) rs78870221
NM_002485.5(NBN):c.1182A>G (p.Arg394=) rs1586059412
NM_002485.5(NBN):c.2071-8T>C rs1178683426
NM_002529.4(NTRK1):c.102A>G (p.Ala34=) rs2102879190
NM_002529.4(NTRK1):c.1080G>T (p.Thr360=) rs2274498
NM_002529.4(NTRK1):c.1395C>T (p.Ser465=) rs1311708647
NM_002529.4(NTRK1):c.618T>C (p.Asp206=) rs1571690231
NM_002529.4(NTRK1):c.792G>A (p.Thr264=) rs201110800
NM_002617.4(PEX10):c.819C>T (p.Cys273=) rs1570098961
NM_002778.4(PSAP):c.1138C>T (p.Leu380=) rs751199102
NM_002778.4(PSAP):c.570G>A (p.Gln190=) rs142272618
NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=) rs139508856
NM_003060.4(SLC22A5):c.1437C>T (p.Tyr479=) rs761305616
NM_003227.4(TFR2):c.123G>C (p.Gly41=) rs779980249
NM_003227.4(TFR2):c.1605+10C>G rs577722163
NM_003227.4(TFR2):c.1767+7C>G rs41295912
NM_003384.3(VRK1):c.690C>T (p.Ile230=) rs747694940
NM_003640.5(ELP1):c.-17G>A rs199738099
NM_003640.5(ELP1):c.1563G>A (p.Glu521=) rs969266362
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs542412132
NM_003640.5(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.5(ELP1):c.2359T>C (p.Leu787=) rs931451775
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) rs780726202
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) rs779796058
NM_003640.5(ELP1):c.3711C>T (p.Tyr1237=) rs1564070677
NM_003640.5(ELP1):c.3855+9T>G rs533673443
NM_003640.5(ELP1):c.3975G>A (p.Gln1325=) rs1235352918
NM_003640.5(ELP1):c.650-6G>A rs571466270
NM_003640.5(ELP1):c.78C>T (p.Leu26=) rs1164162179
NM_003659.4(AGPS):c.1536A>T (p.Ala512=) rs1036071531
NM_003659.4(AGPS):c.72C>T (p.Asp24=) rs923081006
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003982.4(SLC7A7):c.144G>C (p.Gly48=) rs1298784269
NM_004004.6(GJB2):c.108C>T (p.Leu36=) rs138547875
NM_004006.3(DMD):c.10308C>T (p.Arg3436=) rs780389106
NM_004006.3(DMD):c.10830G>A (p.Thr3610=) rs113604000
NM_004006.3(DMD):c.1084T>C (p.Leu362=) rs1556876311
NM_004006.3(DMD):c.11015-6_11015-4del rs748344570
NM_004006.3(DMD):c.11047-11_11047-10del rs751483072
NM_004006.3(DMD):c.1131C>G (p.Asp377Glu) rs747305466
NM_004006.3(DMD):c.1176T>C (p.His392=) rs1057521572
NM_004006.3(DMD):c.1254T>G (p.Thr418=) rs777002544
NM_004006.3(DMD):c.1311T>G (p.Ala437=) rs398123855
NM_004006.3(DMD):c.1378T>C (p.Leu460=) rs746640758
NM_004006.3(DMD):c.1869C>G (p.Leu623=) rs1800267
NM_004006.3(DMD):c.1911C>A (p.Thr637=) rs928561454
NM_004006.3(DMD):c.1965C>A (p.Val655=) rs1255068879
NM_004006.3(DMD):c.1983T>C (p.Ser661=) rs1603636536
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr) rs398123879
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_004006.3(DMD):c.2331G>C (p.Leu777=) rs369659071
NM_004006.3(DMD):c.2331G>T (p.Leu777=) rs369659071
NM_004006.3(DMD):c.2400C>T (p.Ser800=) rs142115986
NM_004006.3(DMD):c.2508T>C (p.Tyr836=) rs886044674
NM_004006.3(DMD):c.265-9_265-6del rs780278315
NM_004006.3(DMD):c.2667A>G (p.Arg889=) rs759593799
NM_004006.3(DMD):c.2745A>G (p.Thr915=) rs149922633
NM_004006.3(DMD):c.2804-6A>G rs1305291348
NM_004006.3(DMD):c.2815T>C (p.Leu939=) rs1603634302
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala) rs370171367
NM_004006.3(DMD):c.3177C>G (p.Thr1059=) rs755632126
NM_004006.3(DMD):c.333T>C (p.Ile111=) rs138909301
NM_004006.3(DMD):c.3351T>C (p.Asn1117=) rs2148419029
NM_004006.3(DMD):c.3375G>C (p.Ser1125=) rs191164314
NM_004006.3(DMD):c.3678T>G (p.Ala1226=) rs767458058
NM_004006.3(DMD):c.3696A>C (p.Ala1232=) rs369971712
NM_004006.3(DMD):c.3696A>G (p.Ala1232=) rs369971712
NM_004006.3(DMD):c.3988C>T (p.Leu1330=) rs1557357523
NM_004006.3(DMD):c.4090T>C (p.Leu1364=) rs1252905257
NM_004006.3(DMD):c.4090T>G (p.Leu1364Val) rs1252905257
NM_004006.3(DMD):c.4296G>A (p.Gln1432=) rs747262903
NM_004006.3(DMD):c.4323G>T (p.Leu1441=) rs777712150
NM_004006.3(DMD):c.468A>C (p.Val156=) rs886044031
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.3(DMD):c.4747T>C (p.Leu1583=) rs1060504673
NM_004006.3(DMD):c.4953T>C (p.Asp1651=) rs764476153
NM_004006.3(DMD):c.530+7_530+9del rs750507979
NM_004006.3(DMD):c.531-11_531-6del rs758404687
NM_004006.3(DMD):c.5326-11dup rs398123988
NM_004006.3(DMD):c.5449-12_5449-10del rs745728411
NM_004006.3(DMD):c.579A>G (p.Thr193=) rs766344083
NM_004006.3(DMD):c.579A>T (p.Thr193=) rs766344083
NM_004006.3(DMD):c.582A>G (p.Gln194=) rs1603432096
NM_004006.3(DMD):c.5933G>A (p.Arg1978His) rs148135406
NM_004006.3(DMD):c.6291-10T>C rs758023750
NM_004006.3(DMD):c.6333T>C (p.Tyr2111=) rs2097114793
NM_004006.3(DMD):c.6375G>T (p.Gln2125His) rs766781970
NM_004006.3(DMD):c.6405T>C (p.Asn2135=) rs2147865207
NM_004006.3(DMD):c.6489T>C (p.Asn2163=) rs1057523928
NM_004006.3(DMD):c.6614+7C>A rs180719577
NM_004006.3(DMD):c.7018C>T (p.Leu2340=) rs1189846429
NM_004006.3(DMD):c.7032A>G (p.Leu2344=) rs1556962392
NM_004006.3(DMD):c.7074C>T (p.Asn2358=) rs1556962301
NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn) rs202090289
NM_004006.3(DMD):c.7236G>A (p.Ala2412=) rs149003002
NM_004006.3(DMD):c.7281A>T (p.Leu2427=) rs886038872
NM_004006.3(DMD):c.729G>A (p.Val243=) rs182730498
NM_004006.3(DMD):c.7543-17del rs754422509
NM_004006.3(DMD):c.7653G>A (p.Thr2551=) rs368803197
NM_004006.3(DMD):c.7701C>T (p.His2567=) rs1603445347
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln) rs371588290
NM_004006.3(DMD):c.8247A>C (p.Thr2749=) rs1176596333
NM_004006.3(DMD):c.8322G>T (p.Leu2774=) rs72466575
NM_004006.3(DMD):c.8348A>G (p.Asn2783Ser) rs760903823
NM_004006.3(DMD):c.8454G>C (p.Leu2818=) rs2069917714
NM_004006.3(DMD):c.8532G>A (p.Gln2844=) rs887532907
NM_004006.3(DMD):c.8547+18C>T rs755142909
NM_004006.3(DMD):c.8757C>T (p.Asn2919=) rs753234741
NM_004006.3(DMD):c.8925C>G (p.Leu2975=) rs374063420
NM_004006.3(DMD):c.8973C>T (p.Asn2991=) rs772306909
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004006.3(DMD):c.9396C>T (p.Ala3132=) rs1556282217
NM_004006.3(DMD):c.9410A>G (p.Asn3137Ser) rs779737146
NM_004006.3(DMD):c.9786T>C (p.Ser3262=) rs1052771260
NM_004006.3(DMD):c.985T>A (p.Ser329Thr) rs756590471
NM_004035.7(ACOX1):c.1756A>G (p.Thr586Ala) rs533088955
NM_004035.7(ACOX1):c.945-5C>T rs565971118
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004553.6(NDUFS6):c.67C>T (p.Leu23=) rs1014264454
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.2(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_004646.4(NPHS1):c.1065G>A (p.Lys355=) rs966140756
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.3249G>C (p.Gly1083=) rs779723501
NM_004646.4(NPHS1):c.3456G>A (p.Thr1152=) rs138092189
NM_004937.3(CTNS):c.1029C>T (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.909C>T (p.Leu303=) rs1252160181
NM_004937.3(CTNS):c.969C>T (p.Asn323=) rs121908128
NM_005055.5(RAPSN):c.975G>A (p.Gln325=) rs528431446
NM_005373.3(MPL):c.408C>G (p.Pro136=) rs146579984
NM_005629.4(SLC6A8):c.1767+11dup rs1557045747
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_005726.6(TSFM):c.53A>T (p.Tyr18Phe) rs548510701
NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys) rs756615138
NM_005957.5(MTHFR):c.615G>A (p.Gly205=) rs779138021
NM_006019.4(TCIRG1):c.1996A>C (p.Arg666=) rs767714758
NM_006096.4(NDRG1):c.1077_1106dup (p.340TRSRSHTSEG[4]) rs1554747463
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=) rs578199680
NM_006096.4(NDRG1):c.702G>A (p.Arg234=) rs547082017
NM_006096.4(NDRG1):c.906T>G (p.Ala302=) rs572270834
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del) rs753894148
NM_006118.4(HAX1):c.18C>G (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys) rs114883767
NM_006261.5(PROP1):c.609C>T (p.Ala203=) rs751079956
NM_006261.5(PROP1):c.66G>A (p.Leu22=) rs1582664807
NM_006493.4(CLN5):c.33C>G (p.Ala11=) rs530381028
NM_006493.4(CLN5):c.63G>C (p.Arg21=) rs1338752072
NM_006493.4(CLN5):c.77G>C (p.Trp26Ser) rs764790770
NM_006623.4(PHGDH):c.1078+10G>T rs374994783
NM_006623.4(PHGDH):c.1209+9del rs776173839
NM_006623.4(PHGDH):c.267A>C (p.Thr89=) rs767488641
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499
NM_007259.5(VPS45):c.1371+9A>T rs368568806
NM_012144.4(DNAI1):c.447G>A (p.Glu149=) rs1371790403
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del) rs878854967
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450
NM_013339.4(ALG6):c.448A>G (p.Ile150Val) rs571644669
NM_014049.5(ACAD9):c.1164G>A (p.Glu388=) rs372572429
NM_014140.4(SMARCAL1):c.2556T>C (p.Val852=) rs1574485907
NM_014140.4(SMARCAL1):c.2853G>A (p.Thr951=) rs200632025
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.1746G>A (p.Lys582=) rs1763133750
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2545C>T (p.Leu849=) rs1581140577
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902
NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=) rs1235773868
NM_014244.5(ADAMTS2):c.42C>G (p.Pro14=) rs1581302053
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr) rs543859669
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.75G>T (p.Pro25=) rs965841596
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014249.4(NR2E3):c.349+12del rs886051451
NM_014249.4(NR2E3):c.349+7C>T rs900547
NM_014251.3(SLC25A13):c.306T>C (p.Ala102=) rs565008080
NM_014297.5(ETHE1):c.372C>T (p.Arg124=) rs1972241147
NM_014363.6(SACS):c.10227A>G (p.Ser3409=) rs1593123878
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.10731A>C (p.Thr3577=) rs759287298
NM_014363.6(SACS):c.1332A>G (p.Ala444=) rs1039811925
NM_014363.6(SACS):c.2904C>T (p.Asp968=) rs149585868
NM_014363.6(SACS):c.4145A>G (p.His1382Arg) rs550057119
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.7812T>C (p.Ile2604=) rs1593127031
NM_014363.6(SACS):c.972C>T (p.Asp324=) rs546652936
NM_014625.4(NPHS2):c.87C>T (p.Ala29=) rs12123397
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del) rs572609303
NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg) rs186595127
NM_014844.5(TECPR2):c.1785G>A (p.Thr595=) rs1367573550
NM_014844.5(TECPR2):c.1869G>C (p.Gly623=) rs45605932
NM_014844.5(TECPR2):c.1872G>T (p.Ala624=) rs145129878
NM_014844.5(TECPR2):c.1925T>A (p.Val642Asp) rs746442659
NM_014844.5(TECPR2):c.2979G>A (p.Gln993=) rs1889962080
NM_014844.5(TECPR2):c.3913G>T (p.Ala1305Ser) rs573719989
NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=) rs777406369
NM_014844.5(TECPR2):c.4116G>T (p.Pro1372=) rs777406369
NM_014844.5(TECPR2):c.4194G>A (p.Met1398Ile) rs757191728
NM_014844.5(TECPR2):c.741C>T (p.Val247=) rs551933071
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.627G>C (p.Val209=) rs1327886469
NM_015506.3(MMACHC):c.816C>A (p.Pro272=) rs754568180
NM_015627.3(LDLRAP1):c.27G>A (p.Arg9=) rs1340216590
NM_015627.3(LDLRAP1):c.363A>G (p.Ala121=) rs1572039510
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) rs140295281
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn) rs372554696
NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn) rs760435544
NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile) rs760435544
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018941.4(CLN8):c.21G>A (p.Gly7=) rs751762914
NM_018941.4(CLN8):c.696A>G (p.Thr232=) rs1337045486
NM_019098.5(CNGB3):c.1956C>T (p.Thr652=) rs767430685
NM_019098.5(CNGB3):c.2124A>G (p.Gly708=) rs769689524
NM_019098.5(CNGB3):c.2217T>C (p.Asp739=) rs1425570775
NM_019098.5(CNGB3):c.494-11del rs36008065
NM_019098.5(CNGB3):c.504G>T (p.Thr168=) rs751547136
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020320.5(RARS2):c.1587-10C>G rs531179961
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1032G>C (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1053C>G (p.Val351=) rs566285864
NM_020533.3(MCOLN1):c.1053C>T (p.Val351=) rs566285864
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_020533.3(MCOLN1):c.1335C>T (p.Ile445=) rs764352100
NM_020533.3(MCOLN1):c.264G>A (p.Gln88=) rs554380139
NM_020533.3(MCOLN1):c.648C>T (p.Ser216=) rs2146023575
NM_022124.6(CDH23):c.2193G>C (p.Thr731=) rs397517315
NM_022124.6(CDH23):c.2751C>T (p.Leu917=) rs369180032
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=) rs377259987
NM_022124.6(CDH23):c.5051G>A (p.Arg1684His) rs111033475
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_023036.6(DNAI2):c.123C>T (p.Phe41=) rs542439989
NM_023036.6(DNAI2):c.1287C>T (p.Asp429=) rs372940037
NM_023036.6(DNAI2):c.147G>C (p.Thr49=) rs369017940
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=) rs9908476
NM_023036.6(DNAI2):c.339C>T (p.Leu113=) rs957243389
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala) rs576683556
NM_024301.5(FKRP):c.561C>G (p.Ala187=) rs771770302
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.1863C>T (p.Asn621=) rs758930596
NM_024312.5(GNPTAB):c.1947C>T (p.Tyr649=) rs746619207
NM_024312.5(GNPTAB):c.2148G>A (p.Leu716=) rs374600127
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024685.4(BBS10):c.1092C>T (p.Asn364=) rs1951763479
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1602T>G (p.Thr534=) rs750402316
NM_024685.4(BBS10):c.2167C>T (p.Leu723=) rs1003705267
NM_024996.7(GFM1):c.1308C>T (p.Asn436=) rs1187874654
NM_024996.7(GFM1):c.192A>G (p.Glu64=) rs1576720639
NM_024996.7(GFM1):c.498C>T (p.Asn166=) rs762364300
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_025114.4(CEP290):c.1789T>C (p.Leu597=) rs2039096949
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=) rs112738303
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=) rs2034700190
NM_025215.6(PUS1):c.1065G>A (p.Pro355=) rs147555676
NM_025216.3(WNT10A):c.1146C>T (p.Asn382=) rs759671927
NM_031885.5(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) rs773017257
NM_032520.5(GNPTG):c.862A>C (p.Arg288=) rs200471078
NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=) rs1564538186
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=) rs372440971
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del) rs770671117
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=) rs534255804
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=) rs556865512
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=) rs757215593
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=) rs769379977
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=) rs1829282039
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7420-4C>T rs764829121
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=) rs773019423
NM_033380.3(COL4A5):c.3829C>A (p.Pro1277Thr) rs761470284
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4529-6T>C rs775079914
NM_052845.4(MMAB):c.735C>T (p.Ala245=) rs377015836
NM_054012.4(ASS1):c.408C>T (p.Ala136=) rs765880041
NM_057176.3(BSND):c.393G>A (p.Leu131=) rs201387711
NM_130849.4(SLC39A4):c.1261A>T (p.Asn421Tyr) rs373681902
NM_133259.4(LRPPRC):c.1248C>T (p.Leu416=) rs1263285909
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1506T>C (p.Ser502=) rs1163183496
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) rs374400665
NM_133259.4(LRPPRC):c.2761G>T (p.Ala921Ser) rs775312269
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=) rs746573924
NM_133259.4(LRPPRC):c.42C>T (p.Ala14=) rs1572599036
NM_133259.4(LRPPRC):c.582A>G (p.Gln194=) rs148494289
NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=) rs1349645712
NM_138694.4(PKHD1):c.10281A>G (p.Leu3427=) rs763463216
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) rs553752644
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=) rs555442845
NM_138694.4(PKHD1):c.11217G>T (p.Arg3739=) rs958665190
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11958T>A (p.Ala3986=) rs1766324047
NM_138694.4(PKHD1):c.15G>A (p.Leu5=) rs1812540624
NM_138694.4(PKHD1):c.1710C>T (p.Asn570=) rs200592905
NM_138694.4(PKHD1):c.1728C>T (p.Thr576=) rs1468634187
NM_138694.4(PKHD1):c.1773T>G (p.Pro591=) rs2128207463
NM_138694.4(PKHD1):c.1899C>T (p.Ile633=) rs751853495
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.279C>G (p.Thr93=) rs1052073195
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=) rs559684657
NM_138694.4(PKHD1):c.3043C>T (p.Leu1015=) rs1272367929
NM_138694.4(PKHD1):c.3432C>T (p.His1144=) rs376881116
NM_138694.4(PKHD1):c.3933A>G (p.Thr1311=) rs2128145709
NM_138694.4(PKHD1):c.3936T>C (p.Asn1312=) rs757243486
NM_138694.4(PKHD1):c.4047G>A (p.Leu1349=) rs754565280
NM_138694.4(PKHD1):c.4236G>A (p.Leu1412=) rs2128144470
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=) rs577832997
NM_138694.4(PKHD1):c.4539T>C (p.Ala1513=) rs2128143441
NM_138694.4(PKHD1):c.4674G>A (p.Gly1558=) rs943531478
NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=) rs780533224
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=) rs200864129
NM_138694.4(PKHD1):c.5877C>T (p.Asn1959=) rs955588679
NM_138694.4(PKHD1):c.6267G>A (p.Pro2089=) rs1399100600
NM_138694.4(PKHD1):c.779-13_779-12del rs5876252
NM_138694.4(PKHD1):c.786A>G (p.Leu262=) rs570064466
NM_138694.4(PKHD1):c.8163A>G (p.Pro2721=) rs764470314
NM_138694.4(PKHD1):c.8598C>T (p.Asn2866=) rs893003949
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
NM_138694.4(PKHD1):c.9369G>A (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9384T>C (p.His3128=) rs2150984309
NM_138694.4(PKHD1):c.9408T>C (p.Ser3136=) rs1785490409
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=) rs758820099
NM_152443.3(RDH12):c.39G>A (p.Ser13=) rs146672918
NM_152443.3(RDH12):c.474C>G (p.Leu158=) rs755916691
NM_152443.3(RDH12):c.474C>T (p.Leu158=) rs755916691
NM_152443.3(RDH12):c.552C>T (p.Pro184=) rs1453486367
NM_152443.3(RDH12):c.931C>T (p.Leu311=) rs201458213
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=) rs746691768
NM_152564.5(VPS13B):c.7051-7A>C rs772934540
NM_152564.5(VPS13B):c.8703A>G (p.Gly2901=) rs1588744960
NM_152618.3(BBS12):c.318T>C (p.Gly106=) rs1578489832
NM_153006.3(NAGS):c.1398G>A (p.Arg466=) rs369492320
NM_153006.3(NAGS):c.201C>T (p.Asp67=) rs748567515
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1995G>T (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2274G>A (p.Lys758=) rs199611644
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
NM_172250.3(MMAA):c.1002G>A (p.Gly334=) rs1018880684
NM_178138.6(LHX3):c.582G>C (p.Thr194=) rs759590430
NM_182760.4(SUMF1):c.258C>G (p.Leu86=) rs776950607
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg) rs776028375
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.954+7A>G rs560003466
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_201253.3(CRB1):c.1428C>G (p.Thr476=) rs62636282
NM_201253.3(CRB1):c.2316A>G (p.Leu772=) rs964544440
NM_201525.4(ADGRG1):c.1978C>A (p.Arg660=) rs777803292
NM_201525.4(ADGRG1):c.462C>T (p.Ala154=) rs373133040
NM_201525.4(ADGRG1):c.840G>A (p.Arg280=) rs1597552134
NM_201548.5(CERKL):c.264T>C (p.Cys88=) rs765835624
NM_201548.5(CERKL):c.699T>C (p.Asp233=) rs769255785
NM_206933.4(USH2A):c.11390-24CT[8] rs140003076
NM_206933.4(USH2A):c.14512G>A (p.Gly4838Arg) rs533097255
NM_206933.4(USH2A):c.14838G>T (p.Val4946=) rs949583594
NM_206933.4(USH2A):c.14859C>T (p.Asp4953=) rs1571923764
NM_206933.4(USH2A):c.2920G>A (p.Asp974Asn) rs540564733
NM_206933.4(USH2A):c.3405G>A (p.Arg1135=) rs372843685
NM_206933.4(USH2A):c.3783A>G (p.Val1261=) rs200698585
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=) rs560847831
NM_206933.4(USH2A):c.732T>C (p.Gly244=) rs576466805
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=) rs577063450
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=) rs371183424
NM_206933.4(USH2A):c.9771T>C (p.Asn3257=) rs755843100
NM_213653.4(HJV):c.189AGG[7] (p.Gly69dup) rs587644102
NM_213653.4(HJV):c.345C>T (p.Ile115=) rs142575526
NR_003051.3(RMRP):n.-24A>G rs529852688
NR_003051.3(RMRP):n.-9T>G rs12552387
NR_003051.4(RMRP):n.268G>C rs535022008

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.