NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=)
|
rs8092336
|
0.95903
|
NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val)
|
rs1805034
|
0.56701
|
NM_003839.4(TNFRSF11A):c.-9T>C
|
rs1805033
|
0.28610
|
NM_003839.4(TNFRSF11A):c.-39G>A
|
rs7238731
|
0.28496
|
NM_006019.4(TCIRG1):c.1020+152G>T
|
rs72926459
|
0.18098
|
NM_000088.4(COL1A1):c.104-441G>T
|
rs1800012
|
0.13897
|
NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr)
|
rs35211496
|
0.12362
|
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)
|
rs12926089
|
0.11417
|
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)
|
rs56092424
|
0.03763
|
NM_000376.3(VDR):c.*437C>G
|
rs11574119
|
0.03464
|
NM_000376.3(VDR):c.*562A>C
|
rs3858733
|
0.03190
|
NM_000376.3(VDR):c.*2974A>T
|
rs11574139
|
0.03175
|
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
|
rs28933977
|
0.02826
|
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)
|
rs2228063
|
0.02817
|
NM_006208.3(ENPP1):c.-10C>T
|
rs750410843
|
0.02463
|
NM_003839.4(TNFRSF11A):c.75+5G>A
|
rs146553439
|
0.02406
|
NM_002496.4(NDUFS8):c.*40A>G
|
rs61329983
|
0.02403
|
NM_000376.3(VDR):c.*1281G>A
|
rs7967673
|
0.02377
|
NM_000376.3(VDR):c.*1242A>G
|
rs7954412
|
0.02375
|
NM_000376.3(VDR):c.*2827A>G
|
rs11574138
|
0.02365
|
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)
|
rs34225933
|
0.02221
|
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg)
|
rs138818878
|
0.02149
|
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=)
|
rs8176345
|
0.02124
|
NM_000376.3(VDR):c.*408T>C
|
rs112308011
|
0.01929
|
NM_003839.4(TNFRSF11A):c.*668G>T
|
rs78622775
|
0.01625
|
NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=)
|
rs117913124
|
0.01543
|
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)
|
rs55793208
|
0.01529
|
NM_000376.3(VDR):c.*2593A>G
|
rs11168263
|
0.01497
|
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys)
|
rs115371819
|
0.01496
|
NM_000376.3(VDR):c.*409G>A
|
rs11574118
|
0.01495
|
NM_000785.4(CYP27B1):c.*415G>A
|
rs8176351
|
0.01487
|
NM_207122.2(EXT2):c.124A>G (p.Met42Val)
|
rs4755779
|
0.01478
|
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)
|
rs79079368
|
0.01455
|
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=)
|
rs76744324
|
0.01379
|
NM_207122.2(EXT2):c.1761G>A (p.Thr587=)
|
rs16937864
|
0.01303
|
NM_002334.4(LRP4):c.431-12G>A
|
rs139371503
|
0.01289
|
NM_207122.2(EXT2):c.999T>C (p.Asp333=)
|
rs61733300
|
0.01271
|
NM_016175.4(MRNIP):c.*12C>T
|
rs73334055
|
0.01186
|
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala)
|
rs35643193
|
0.01167
|
NM_016175.4(MRNIP):c.729C>T (p.Asp243=)
|
rs61742526
|
0.01155
|
NM_006208.3(ENPP1):c.*2076C>T
|
rs117531639
|
0.01090
|
NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His)
|
rs35993683
|
0.01070
|
NM_000444.6(PHEX):c.288A>G (p.Glu96=)
|
rs112836831
|
0.00980
|
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)
|
rs140226523
|
0.00943
|
NM_207122.2(EXT2):c.1017T>C (p.Cys339=)
|
rs11828047
|
0.00930
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_024514.5(CYP2R1):c.651T>C (p.Asn217=)
|
rs111576400
|
0.00790
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
NM_002546.4(TNFRSF11B):c.*545T>C
|
rs11573947
|
0.00754
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_000444.6(PHEX):c.489A>G (p.Ser163=)
|
rs140231382
|
0.00748
|
NM_000444.6(PHEX):c.537T>A (p.Val179=)
|
rs137961493
|
0.00746
|
NM_020638.3(FGF23):c.*388G>A
|
rs13312795
|
0.00731
|
NM_002335.4(LRP5):c.687-8G>A
|
rs190810239
|
0.00718
|
NM_003839.4(TNFRSF11A):c.*1738C>T
|
rs6567277
|
0.00718
|
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu)
|
rs138974661
|
0.00709
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
NM_000505.4(F12):c.1342C>T (p.Arg448Cys)
|
rs115119084
|
0.00679
|
NM_000376.3(VDR):c.444C>T (p.Ser148=)
|
rs2229828
|
0.00638
|
NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr)
|
rs61751992
|
0.00618
|
NM_003701.4(TNFSF11):c.*745T>C
|
rs12721444
|
0.00615
|
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)
|
rs186758849
|
0.00601
|
NM_003900.5(SQSTM1):c.*83G>A
|
rs155790
|
0.00589
|
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)
|
rs34940368
|
0.00563
|
NM_024652.6(LRRK1):c.5387C>A (p.Pro1796His)
|
rs34876840
|
0.00542
|
NM_006208.3(ENPP1):c.*1122A>G
|
rs148507889
|
0.00539
|
NM_006019.4(TCIRG1):c.*68G>A
|
rs139720520
|
0.00538
|
NM_006208.3(ENPP1):c.*3176T>A
|
rs114333444
|
0.00525
|
NM_000088.4(COL1A1):c.*1233G>A
|
rs73987442
|
0.00516
|
NM_003052.5(SLC34A1):c.*485G>A
|
rs143160780
|
0.00504
|
NM_006208.3(ENPP1):c.*1038T>A
|
rs79214335
|
0.00496
|
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)
|
rs767340839
|
0.00487
|
NM_000505.4(F12):c.1272G>C (p.Thr424=)
|
rs61737766
|
0.00486
|
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)
|
rs34211419
|
0.00473
|
NM_024514.5(CYP2R1):c.368-12A>T
|
rs189127299
|
0.00447
|
NM_000088.4(COL1A1):c.750+12G>T
|
rs79480112
|
0.00434
|
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)
|
rs116794104
|
0.00432
|
NM_000127.3(EXT1):c.1959G>A (p.Glu653=)
|
rs142710059
|
0.00404
|
NM_000444.6(PHEX):c.1383G>A (p.Thr461=)
|
rs77710864
|
0.00397
|
NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=)
|
rs11573942
|
0.00387
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=)
|
rs145406397
|
0.00373
|
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg)
|
rs61758378
|
0.00373
|
NM_207122.2(EXT2):c.*56G>A
|
rs77554103
|
0.00371
|
NM_025237.3(SOST):c.*222A>G
|
rs544576964
|
0.00346
|
NM_000089.4(COL1A2):c.1036-14G>A
|
rs114322680
|
0.00338
|
NM_207122.2(EXT2):c.*101G>C
|
rs117755165
|
0.00332
|
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=)
|
rs144901347
|
0.00327
|
NM_002335.4(LRP5):c.2139G>A (p.Val713=)
|
rs34369535
|
0.00322
|
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=)
|
rs12721430
|
0.00322
|
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=)
|
rs113568956
|
0.00320
|
NM_025237.3(SOST):c.-21T>G
|
rs202008449
|
0.00319
|
NM_003701.4(TNFSF11):c.45G>A (p.Ser15=)
|
rs200121871
|
0.00316
|
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=)
|
rs146854507
|
0.00306
|
NM_001177316.2(SLC34A3):c.1482C>T (p.Leu494=)
|
rs28510663
|
0.00302
|
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)
|
rs8192683
|
0.00299
|
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)
|
rs148976897
|
0.00298
|
NM_000396.4(CTSK):c.675A>G (p.Arg225=)
|
rs41271965
|
0.00297
|
NM_020638.3(FGF23):c.423G>T (p.Ala141=)
|
rs13312792
|
0.00290
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_003839.4(TNFRSF11A):c.*2077G>T
|
rs75853662
|
0.00278
|
NM_000088.4(COL1A1):c.*1088G>A
|
rs191326459
|
0.00264
|
NM_001287.6(CLCN7):c.*1572C>T
|
rs539134149
|
0.00264
|
NM_025237.3(SOST):c.-10G>A
|
rs190743758
|
0.00262
|
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)
|
rs142328132
|
0.00250
|
NM_025237.3(SOST):c.*1391G>C
|
rs144304911
|
0.00249
|
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)
|
rs61748876
|
0.00246
|
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp)
|
rs34945627
|
0.00239
|
NM_002335.4(LRP5):c.4431C>T (p.His1477=)
|
rs11574426
|
0.00238
|
NM_003052.5(SLC34A1):c.*179G>A
|
rs141664220
|
0.00237
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)
|
rs141436407
|
0.00230
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met)
|
rs142815441
|
0.00225
|
NM_001177316.2(SLC34A3):c.1093+19G>A
|
rs201165474
|
0.00220
|
NM_002334.4(LRP4):c.1048+7G>T
|
rs148557097
|
0.00220
|
NM_014028.4(OSTM1):c.615+8A>G
|
rs144204437
|
0.00220
|
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)
|
rs140639805
|
0.00216
|
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)
|
rs138872455
|
0.00215
|
NM_002334.4(LRP4):c.1787A>G (p.His596Arg)
|
rs138878258
|
0.00211
|
NM_002335.4(LRP5):c.3256A>G (p.Met1086Val)
|
rs145774832
|
0.00208
|
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=)
|
rs3736229
|
0.00195
|
NM_002335.4(LRP5):c.1968C>T (p.His656=)
|
rs144847027
|
0.00194
|
NM_004407.4(DMP1):c.639G>A (p.Glu213=)
|
rs116732769
|
0.00193
|
NM_000088.4(COL1A1):c.4006-33G>A
|
rs201920224
|
0.00190
|
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=)
|
rs11574420
|
0.00182
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)
|
rs73541508
|
0.00178
|
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=)
|
rs72920390
|
0.00178
|
NM_002334.4(LRP4):c.1915+6C>T
|
rs184555624
|
0.00175
|
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)
|
rs112513380
|
0.00173
|
NM_001287.6(CLCN7):c.1354-7C>T
|
rs41286691
|
0.00170
|
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr)
|
rs142756983
|
0.00164
|
NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=)
|
rs141775305
|
0.00161
|
NM_006019.4(TCIRG1):c.630+14G>A
|
rs201531306
|
0.00161
|
NM_006208.3(ENPP1):c.*3528C>T
|
rs557822175
|
0.00161
|
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
NM_152424.4(AMER1):c.401A>C (p.His134Pro)
|
rs146489129
|
0.00149
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_002335.4(LRP5):c.2828-18T>C
|
rs200093926
|
0.00145
|
NM_002335.4(LRP5):c.4488+20A>G
|
rs554995200
|
0.00145
|
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
|
rs34227834
|
0.00144
|
NM_014028.4(OSTM1):c.*2366A>G
|
rs564822548
|
0.00143
|
NM_000785.4(CYP27B1):c.*77G>A
|
rs8176350
|
0.00137
|
NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro)
|
rs138031026
|
0.00137
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_003839.4(TNFRSF11A):c.284-5C>T
|
rs371545302
|
0.00130
|
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys)
|
rs140328152
|
0.00129
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
NM_002334.4(LRP4):c.639C>T (p.Asp213=)
|
rs144974139
|
0.00124
|
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)
|
rs139726213
|
0.00120
|
NM_006208.3(ENPP1):c.*1307T>G
|
rs189263683
|
0.00117
|
NM_006208.3(ENPP1):c.*4015G>A
|
rs531152298
|
0.00116
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00113
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_004407.4(DMP1):c.600G>A (p.Gly200=)
|
rs34682707
|
0.00111
|
NM_014028.4(OSTM1):c.495A>G (p.Thr165=)
|
rs137974384
|
0.00110
|
NM_002334.4(LRP4):c.430+15C>T
|
rs199835230
|
0.00108
|
NM_002335.4(LRP5):c.2193C>T (p.Asn731=)
|
rs147388442
|
0.00108
|
NM_002335.4(LRP5):c.1221G>A (p.Ala407=)
|
rs150970251
|
0.00106
|
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=)
|
rs142025489
|
0.00106
|
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=)
|
rs139554243
|
0.00100
|
NM_003839.4(TNFRSF11A):c.*1060C>T
|
rs572639953
|
0.00100
|
NM_002335.4(LRP5):c.2529C>T (p.Asp843=)
|
rs143204891
|
0.00099
|
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=)
|
rs377108710
|
0.00099
|
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)
|
rs61742871
|
0.00098
|
NM_006208.3(ENPP1):c.*804A>G
|
rs114078048
|
0.00098
|
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=)
|
rs8176349
|
0.00096
|
NM_003052.5(SLC34A1):c.*361T>C
|
rs539754545
|
0.00096
|
NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg)
|
rs75295961
|
0.00094
|
NM_152424.4(AMER1):c.918G>A (p.Gly306=)
|
rs147299494
|
0.00094
|
NM_000505.4(F12):c.1299C>T (p.Asn433=)
|
rs17876033
|
0.00093
|
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)
|
rs138049763
|
0.00093
|
NM_024514.5(CYP2R1):c.375C>T (p.Leu125=)
|
rs145794885
|
0.00091
|
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)
|
rs148021416
|
0.00088
|
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)
|
rs147266928
|
0.00087
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser)
|
rs143873934
|
0.00086
|
NM_152424.4(AMER1):c.3408G>A (p.Ter1136=)
|
rs372461050
|
0.00086
|
NM_004252.5(NHERF1):c.888+13T>C
|
rs200500451
|
0.00084
|
NM_002334.4(LRP4):c.257G>A (p.Arg86His)
|
rs138239756
|
0.00083
|
NM_000444.6(PHEX):c.81C>T (p.Val27=)
|
rs139862893
|
0.00082
|
NM_001287.6(CLCN7):c.141+19C>G
|
rs547168471
|
0.00082
|
NM_001287.6(CLCN7):c.*1452G>A
|
rs578092313
|
0.00080
|
NM_004407.4(DMP1):c.724T>C (p.Ser242Pro)
|
rs147552663
|
0.00080
|
NM_002334.4(LRP4):c.4951+13G>C
|
rs367744491
|
0.00079
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
NM_002335.4(LRP5):c.4112-14T>C
|
rs200717286
|
0.00078
|
NM_002334.4(LRP4):c.1005C>T (p.Asn335=)
|
rs141757569
|
0.00077
|
NM_002334.4(LRP4):c.2868G>A (p.Glu956=)
|
rs145460760
|
0.00076
|
NM_002334.4(LRP4):c.387C>T (p.Cys129=)
|
rs80333596
|
0.00076
|
NM_031471.6(FERMT3):c.394+12G>A
|
rs375841962
|
0.00076
|
NM_207122.2(EXT2):c.965G>A (p.Arg322His)
|
rs149727518
|
0.00076
|
NM_002334.4(LRP4):c.5520T>C (p.His1840=)
|
rs144350829
|
0.00075
|
NM_031471.6(FERMT3):c.615C>T (p.Pro205=)
|
rs142774418
|
0.00072
|
NM_006019.4(TCIRG1):c.611C>T (p.Pro204Leu)
|
rs373711940
|
0.00071
|
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)
|
rs202093691
|
0.00068
|
NM_000127.3(EXT1):c.1359C>T (p.Phe453=)
|
rs148922894
|
0.00067
|
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val)
|
rs147688807
|
0.00063
|
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)
|
rs139482113
|
0.00063
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
0.00063
|
NM_002335.4(LRP5):c.4348+3A>G
|
rs61375162
|
0.00061
|
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)
|
rs144639401
|
0.00060
|
NM_002334.4(LRP4):c.677-14T>C
|
rs373597511
|
0.00059
|
NM_002335.4(LRP5):c.686+13G>A
|
rs377344481
|
0.00059
|
NM_000127.3(EXT1):c.1782G>A (p.Ala594=)
|
rs61753261
|
0.00058
|
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)
|
rs138589242
|
0.00058
|
NM_014028.4(OSTM1):c.*3192A>C
|
rs185905869
|
0.00058
|
NM_001127898.4(CLCN5):c.2361-18A>G
|
rs372830719
|
0.00057
|
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)
|
rs148278350
|
0.00057
|
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=)
|
rs200243967
|
0.00057
|
NM_000127.3(EXT1):c.1779C>T (p.Pro593=)
|
rs143881630
|
0.00056
|
NM_002335.4(LRP5):c.1015+17G>C
|
rs374132632
|
0.00055
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
NM_031471.6(FERMT3):c.930G>C (p.Val310=)
|
rs199508330
|
0.00054
|
NM_002335.4(LRP5):c.3285C>T (p.Arg1095=)
|
rs80038357
|
0.00053
|
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys)
|
rs145029982
|
0.00052
|
NM_002334.4(LRP4):c.676+13G>A
|
rs200963011
|
0.00052
|
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)
|
rs75700262
|
0.00052
|
NM_006019.4(TCIRG1):c.274C>T (p.Arg92Trp)
|
rs371907380
|
0.00052
|
NM_002335.4(LRP5):c.2046T>C (p.Phe682=)
|
rs61740517
|
0.00050
|
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=)
|
rs137909349
|
0.00050
|
NM_000444.6(PHEX):c.249C>T (p.Phe83=)
|
rs145224279
|
0.00048
|
NM_002335.4(LRP5):c.4348+19G>A
|
rs112052770
|
0.00048
|
NM_020638.3(FGF23):c.342G>A (p.Arg114=)
|
rs138972495
|
0.00048
|
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)
|
rs147753803
|
0.00048
|
NM_003701.4(TNFSF11):c.-141C>T
|
rs45468495
|
0.00046
|
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=)
|
rs11548640
|
0.00046
|
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)
|
rs199632510
|
0.00046
|
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)
|
rs138943091
|
0.00046
|
NM_054027.6(ANKH):c.*2243C>T
|
rs531980160
|
0.00045
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_013322.3(SNX10):c.212+4A>T
|
rs183941048
|
0.00043
|
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys)
|
rs144896730
|
0.00043
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
NM_000127.3(EXT1):c.1536+7G>A
|
rs200128437
|
0.00041
|
NM_000396.4(CTSK):c.684C>T (p.Pro228=)
|
rs142097792
|
0.00041
|
NM_000785.4(CYP27B1):c.690G>A (p.Val230=)
|
rs61734540
|
0.00041
|
NM_001177316.2(SLC34A3):c.1071C>T (p.Val357=)
|
rs142839759
|
0.00041
|
NM_031471.6(FERMT3):c.1546-6C>T
|
rs200208378
|
0.00041
|
NM_031471.6(FERMT3):c.515-5T>A
|
rs371192713
|
0.00041
|
NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=)
|
rs200900947
|
0.00040
|
NM_001177316.2(SLC34A3):c.1191G>A (p.Ala397=)
|
rs199701166
|
0.00039
|
NM_002335.4(LRP5):c.2763C>T (p.Pro921=)
|
rs147158768
|
0.00039
|
NM_002335.4(LRP5):c.4000+11C>G
|
rs367615138
|
0.00039
|
NM_207122.2(EXT2):c.1527A>G (p.Leu509=)
|
rs145649534
|
0.00039
|
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=)
|
rs143977783
|
0.00036
|
NM_207122.2(EXT2):c.744-10T>G
|
rs200943294
|
0.00036
|
NM_000444.6(PHEX):c.2214G>A (p.Thr738=)
|
rs140742016
|
0.00035
|
NM_001177316.2(SLC34A3):c.1197C>G (p.Val399=)
|
rs201720181
|
0.00035
|
NM_001287.6(CLCN7):c.*89C>T
|
rs372232215
|
0.00035
|
NM_000067.3(CA2):c.139C>T (p.Leu47=)
|
rs145096347
|
0.00034
|
NM_000067.3(CA2):c.549C>G (p.Leu183=)
|
rs151021025
|
0.00034
|
NM_000444.6(PHEX):c.996C>T (p.Asp332=)
|
rs139749399
|
0.00034
|
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)
|
rs139372286
|
0.00034
|
NM_003900.5(SQSTM1):c.783C>T (p.His261=)
|
rs145001811
|
0.00034
|
NM_000785.4(CYP27B1):c.1216-18T>G
|
rs188819808
|
0.00033
|
NM_031471.6(FERMT3):c.683+18G>A
|
rs369707009
|
0.00033
|
NM_000088.4(COL1A1):c.588+16G>A
|
rs191715075
|
0.00032
|
NM_000127.3(EXT1):c.-642G>A
|
rs534171475
|
0.00032
|
NM_002335.4(LRP5):c.1248C>T (p.Asn416=)
|
rs149682423
|
0.00032
|
NM_002335.4(LRP5):c.2226C>T (p.Ile742=)
|
rs147932332
|
0.00032
|
NM_002334.4(LRP4):c.3004+19G>T
|
rs376749778
|
0.00031
|
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=)
|
rs144169411
|
0.00031
|
NM_002335.4(LRP5):c.2503+10G>A
|
rs191125304
|
0.00031
|
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)
|
rs145024832
|
0.00031
|
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)
|
rs140075817
|
0.00031
|
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)
|
rs147859619
|
0.00030
|
NM_002334.4(LRP4):c.2815-6T>G
|
rs372210790
|
0.00030
|
NM_000088.4(COL1A1):c.1983+9G>C
|
rs201091992
|
0.00029
|
NM_024514.5(CYP2R1):c.225+10C>T
|
rs375228883
|
0.00029
|
NM_207122.2(EXT2):c.1806+11G>A
|
rs372517964
|
0.00029
|
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile)
|
rs113846849
|
0.00029
|
NM_014028.4(OSTM1):c.49T>G (p.Trp17Gly)
|
rs546399681
|
0.00028
|
NM_207122.2(EXT2):c.843A>G (p.Leu281=)
|
rs111320923
|
0.00027
|
NM_000444.6(PHEX):c.1437A>G (p.Pro479=)
|
rs141436752
|
0.00026
|
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=)
|
rs200388590
|
0.00026
|
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)
|
rs143746604
|
0.00026
|
NM_002334.4(LRP4):c.273C>T (p.Asp91=)
|
rs150401820
|
0.00025
|
NM_005032.7(PLS3):c.892-254T>C
|
rs782587498
|
0.00025
|
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=)
|
rs141601593
|
0.00025
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00025
|
NM_207122.2(EXT2):c.939+19C>G
|
rs370017441
|
0.00025
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
NM_002334.4(LRP4):c.1059G>A (p.Thr353=)
|
rs144710408
|
0.00024
|
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)
|
rs148656020
|
0.00024
|
NM_207122.2(EXT2):c.444C>T (p.Asn148=)
|
rs145884580
|
0.00024
|
NM_003900.5(SQSTM1):c.674-17C>T
|
rs372845160
|
0.00023
|
NM_006208.3(ENPP1):c.*2698G>A
|
rs146550172
|
0.00023
|
NM_031471.6(FERMT3):c.894+10G>A
|
rs112542691
|
0.00023
|
NM_002334.4(LRP4):c.378G>A (p.Leu126=)
|
rs201749120
|
0.00022
|
NM_002335.4(LRP5):c.1395A>C (p.Ala465=)
|
rs200075657
|
0.00022
|
NM_002335.4(LRP5):c.488+15G>A
|
rs370558169
|
0.00022
|
NM_031471.6(FERMT3):c.161-6C>T
|
rs114338405
|
0.00022
|
NM_031471.6(FERMT3):c.320G>A (p.Arg107His)
|
rs138704967
|
0.00022
|
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile)
|
rs567445428
|
0.00022
|
NM_001287.6(CLCN7):c.*1685G>A
|
rs376387077
|
0.00021
|
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=)
|
rs144335505
|
0.00021
|
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)
|
rs150734530
|
0.00021
|
NM_002335.4(LRP5):c.1134C>T (p.Ile378=)
|
rs139130382
|
0.00021
|
NM_002335.4(LRP5):c.1605G>A (p.Thr535=)
|
rs141896162
|
0.00021
|
NM_002335.4(LRP5):c.3879G>A (p.Glu1293=)
|
rs759175453
|
0.00021
|
NM_002335.4(LRP5):c.4689C>T (p.Tyr1563=)
|
rs149752460
|
0.00021
|
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu)
|
rs201795943
|
0.00021
|
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)
|
rs200239821
|
0.00021
|
NM_000088.4(COL1A1):c.957+10C>A
|
rs376179885
|
0.00020
|
NM_000444.6(PHEX):c.1483-7T>C
|
rs369175587
|
0.00020
|
NM_002334.4(LRP4):c.1491C>T (p.Leu497=)
|
rs146501212
|
0.00020
|
NM_031471.6(FERMT3):c.1080-5C>T
|
rs143722885
|
0.00020
|
NM_207122.2(EXT2):c.2013G>A (p.Val671=)
|
rs371019537
|
0.00020
|
NM_207122.2(EXT2):c.896G>A (p.Arg299His)
|
rs76901081
|
0.00020
|
NM_000127.3(EXT1):c.1319G>A (p.Arg440His)
|
rs144550328
|
0.00019
|
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn)
|
rs370610267
|
0.00019
|
NM_001177316.2(SLC34A3):c.1093+8C>T
|
rs201986644
|
0.00019
|
NM_002335.4(LRP5):c.2358C>T (p.Ile786=)
|
rs140616444
|
0.00019
|
NM_002335.4(LRP5):c.4077C>T (p.Pro1359=)
|
rs143482432
|
0.00019
|
NM_020638.3(FGF23):c.*1398T>A
|
rs531815578
|
0.00019
|
NM_031471.6(FERMT3):c.303C>T (p.Ile101=)
|
rs375277199
|
0.00019
|
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=)
|
rs148026048
|
0.00018
|
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)
|
rs201253200
|
0.00018
|
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=)
|
rs140010759
|
0.00018
|
NM_002335.4(LRP5):c.3954C>T (p.Asp1318=)
|
rs201352823
|
0.00018
|
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=)
|
rs150470670
|
0.00018
|
NM_002334.4(LRP4):c.1310-9G>C
|
rs200509094
|
0.00017
|
NM_002335.4(LRP5):c.2115C>T (p.Asn705=)
|
rs145456776
|
0.00017
|
NM_020638.3(FGF23):c.*998C>G
|
rs71583766
|
0.00017
|
NM_031471.6(FERMT3):c.161-12C>T
|
rs372152105
|
0.00017
|
NM_152424.4(AMER1):c.742C>A (p.Pro248Thr)
|
rs149688443
|
0.00017
|
NM_000785.4(CYP27B1):c.387-8C>A
|
rs375741542
|
0.00016
|
NM_001177316.2(SLC34A3):c.876C>T (p.Phe292=)
|
rs202060862
|
0.00016
|
NM_002335.4(LRP5):c.2766C>T (p.Gly922=)
|
rs139372523
|
0.00016
|
NM_002335.4(LRP5):c.3237-5C>T
|
rs376163277
|
0.00016
|
NM_002335.4(LRP5):c.488+11dup
|
rs771667608
|
0.00016
|
NM_003900.5(SQSTM1):c.*66A>C
|
rs140407570
|
0.00016
|
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile)
|
rs767492816
|
0.00015
|
NM_000396.4(CTSK):c.169A>G (p.Ile57Val)
|
rs201446793
|
0.00015
|
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=)
|
rs199594074
|
0.00015
|
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=)
|
rs137882536
|
0.00015
|
NM_002334.4(LRP4):c.636C>T (p.Gly212=)
|
rs17848239
|
0.00015
|
NM_006019.4(TCIRG1):c.942G>A (p.Thr314=)
|
rs764846667
|
0.00015
|
NM_014028.4(OSTM1):c.198A>G (p.Gly66=)
|
rs565610194
|
0.00015
|
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
|
rs575895733
|
0.00014
|
NM_000376.3(VDR):c.1206C>A (p.Arg402=)
|
rs2229829
|
0.00014
|
NM_000444.6(PHEX):c.2068C>A (p.His690Asn)
|
rs200733697
|
0.00014
|
NM_001177316.2(SLC34A3):c.304+20C>T
|
rs199652389
|
0.00014
|
NM_001287.6(CLCN7):c.350C>T (p.Thr117Met)
|
rs201003681
|
0.00014
|
NM_002334.4(LRP4):c.4584-4G>A
|
rs368518969
|
0.00014
|
NM_002334.4(LRP4):c.4584-5C>T
|
rs183295145
|
0.00014
|
NM_002546.4(TNFRSF11B):c.21C>T (p.Cys7=)
|
rs373330021
|
0.00014
|
NM_014028.4(OSTM1):c.300G>T (p.Gly100=)
|
rs199570880
|
0.00014
|
NM_024514.5(CYP2R1):c.1330+17G>A
|
rs782405402
|
0.00014
|
NM_031471.6(FERMT3):c.1251C>T (p.Cys417=)
|
rs374519761
|
0.00014
|
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)
|
rs146098187
|
0.00014
|
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His)
|
rs781790886
|
0.00013
|
NM_001177316.2(SLC34A3):c.1431C>T (p.Phe477=)
|
rs150176604
|
0.00013
|
NM_001287.6(CLCN7):c.286-9G>T
|
rs200321142
|
0.00013
|
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=)
|
rs374121143
|
0.00013
|
NM_024514.5(CYP2R1):c.873A>G (p.Pro291=)
|
rs184549196
|
0.00013
|
NM_031471.6(FERMT3):c.885C>T (p.Ala295=)
|
rs374379186
|
0.00013
|
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser)
|
rs368382074
|
0.00012
|
NM_001177316.2(SLC34A3):c.204C>T (p.Arg68=)
|
rs140559114
|
0.00012
|
NM_002334.4(LRP4):c.2436T>C (p.Asp812=)
|
rs201159730
|
0.00012
|
NM_002334.4(LRP4):c.447C>T (p.Ser149=)
|
rs763246909
|
0.00012
|
NM_002335.4(LRP5):c.2175T>C (p.Val725=)
|
rs200570645
|
0.00012
|
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=)
|
rs752439831
|
0.00012
|
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)
|
rs148575220
|
0.00012
|
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)
|
rs370970067
|
0.00012
|
NM_000067.3(CA2):c.534C>T (p.Phe178=)
|
rs17850824
|
0.00011
|
NM_000088.4(COL1A1):c.2613+13C>T
|
rs368380161
|
0.00011
|
NM_002334.4(LRP4):c.2763C>T (p.Asp921=)
|
rs532977473
|
0.00011
|
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=)
|
rs372105627
|
0.00011
|
NM_002335.4(LRP5):c.3600C>T (p.Gly1200=)
|
rs202207765
|
0.00011
|
NM_002335.4(LRP5):c.3837C>T (p.Arg1279=)
|
rs372930578
|
0.00011
|
NM_002335.4(LRP5):c.4111+19C>T
|
rs377000624
|
0.00011
|
NM_002335.4(LRP5):c.4137C>T (p.Asp1379=)
|
rs139755343
|
0.00011
|
NM_002335.4(LRP5):c.714G>A (p.Thr238=)
|
rs149522146
|
0.00011
|
NM_003839.4(TNFRSF11A):c.1567+7G>A
|
rs35332936
|
0.00011
|
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=)
|
rs374985304
|
0.00011
|
NM_025237.3(SOST):c.56G>A (p.Arg19His)
|
rs199514554
|
0.00011
|
NM_207122.2(EXT2):c.*129C>G
|
rs141864253
|
0.00011
|
NM_207122.2(EXT2):c.*139C>G
|
rs191451519
|
0.00011
|
NM_207122.2(EXT2):c.1407C>T (p.Leu469=)
|
rs148753786
|
0.00011
|
NM_000127.3(EXT1):c.1284+25G>A
|
rs375754024
|
0.00010
|
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg)
|
rs145720047
|
0.00010
|
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser)
|
rs760556268
|
0.00010
|
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=)
|
rs150616375
|
0.00010
|
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=)
|
rs143496445
|
0.00010
|
NM_002335.4(LRP5):c.1016-19A>G
|
rs373782074
|
0.00010
|
NM_002335.4(LRP5):c.4349-17C>T
|
rs372086596
|
0.00010
|
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys)
|
rs199565633
|
0.00010
|
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=)
|
rs768939354
|
0.00010
|
NM_003900.5(SQSTM1):c.1083C>T (p.Ser361=)
|
rs201591177
|
0.00010
|
NM_003900.5(SQSTM1):c.755-8G>A
|
rs369581639
|
0.00010
|
NM_031471.6(FERMT3):c.1221C>T (p.Pro407=)
|
rs370181430
|
0.00010
|
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)
|
rs138722406
|
0.00010
|
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
|
rs202051061
|
0.00009
|
NM_000127.3(EXT1):c.963-16C>T
|
rs369462786
|
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_001177316.2(SLC34A3):c.705G>A (p.Ala235=)
|
rs143867268
|
0.00009
|
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=)
|
rs61748895
|
0.00009
|
NM_002334.4(LRP4):c.2112C>T (p.Asp704=)
|
rs140757594
|
0.00009
|
NM_002334.4(LRP4):c.2216-14C>T
|
rs369714698
|
0.00009
|
NM_002334.4(LRP4):c.3537-13C>A
|
rs752687926
|
0.00009
|
NM_002334.4(LRP4):c.426G>A (p.Gln142=)
|
rs371955690
|
0.00009
|
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=)
|
rs376909913
|
0.00009
|
NM_002335.4(LRP5):c.1412+12G>A
|
rs189423416
|
0.00009
|
NM_002335.4(LRP5):c.3870C>T (p.Ser1290=)
|
rs749656764
|
0.00009
|
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=)
|
rs552176812
|
0.00009
|
NM_003900.5(SQSTM1):c.171G>C (p.Ala57=)
|
rs773605598
|
0.00009
|
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=)
|
rs376214713
|
0.00009
|
NM_006208.3(ENPP1):c.750G>A (p.Pro250=)
|
rs368742582
|
0.00009
|
NM_031471.6(FERMT3):c.1647C>T (p.Phe549=)
|
rs370038112
|
0.00009
|
NM_031471.6(FERMT3):c.786+10G>T
|
rs371382691
|
0.00009
|
NM_031471.6(FERMT3):c.786+7C>T
|
rs373211697
|
0.00009
|
NM_054027.6(ANKH):c.1338C>T (p.Ile446=)
|
rs756749018
|
0.00009
|
NM_002334.4(LRP4):c.282C>T (p.Asn94=)
|
rs17848224
|
0.00008
|
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr)
|
rs149166384
|
0.00008
|
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)
|
rs543099977
|
0.00008
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
NM_000067.3(CA2):c.607C>A (p.Leu203Met)
|
rs548376992
|
0.00007
|
NM_000067.3(CA2):c.618G>A (p.Val206=)
|
rs369700367
|
0.00007
|
NM_000127.3(EXT1):c.1609G>A (p.Val537Ile)
|
rs144397063
|
0.00007
|
NM_002334.4(LRP4):c.660A>G (p.Ser220=)
|
rs200129866
|
0.00007
|
NM_002335.4(LRP5):c.1585-10C>T
|
rs200827533
|
0.00007
|
NM_002335.4(LRP5):c.4065C>T (p.Cys1355=)
|
rs770762272
|
0.00007
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
NM_031471.6(FERMT3):c.1014G>A (p.Ala338=)
|
rs774290819
|
0.00007
|
NM_031471.6(FERMT3):c.787-7G>A
|
rs778795486
|
0.00007
|
NM_000067.3(CA2):c.444+18T>G
|
rs544980486
|
0.00006
|
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)
|
rs375695940
|
0.00006
|
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)
|
rs200188855
|
0.00006
|
NM_000088.4(COL1A1):c.589-20T>C
|
rs370564344
|
0.00006
|
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=)
|
rs757115396
|
0.00006
|
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys)
|
rs150818931
|
0.00006
|
NM_000396.4(CTSK):c.117C>T (p.Asn39=)
|
rs369459638
|
0.00006
|
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=)
|
rs537715358
|
0.00006
|
NM_002334.4(LRP4):c.1023C>T (p.Ser341=)
|
rs200097836
|
0.00006
|
NM_002334.4(LRP4):c.1048+20G>A
|
rs199512829
|
0.00006
|
NM_002334.4(LRP4):c.1584C>T (p.Thr528=)
|
rs574108233
|
0.00006
|
NM_002334.4(LRP4):c.177C>T (p.Asp59=)
|
rs373625784
|
0.00006
|
NM_002334.4(LRP4):c.2318G>A (p.Arg773His)
|
rs374890595
|
0.00006
|
NM_002334.4(LRP4):c.3756G>A (p.Val1252=)
|
rs75923112
|
0.00006
|
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=)
|
rs201016203
|
0.00006
|
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val)
|
rs779526693
|
0.00006
|
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=)
|
rs17848229
|
0.00006
|
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=)
|
rs372569948
|
0.00006
|
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=)
|
rs753496184
|
0.00006
|
NM_002334.4(LRP4):c.612C>T (p.Ile204=)
|
rs757902891
|
0.00006
|
NM_002335.4(LRP5):c.1077G>A (p.Thr359=)
|
rs200179967
|
0.00006
|
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=)
|
rs200188041
|
0.00006
|
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu)
|
rs375495050
|
0.00006
|
NM_003900.5(SQSTM1):c.205+7G>C
|
rs912066047
|
0.00006
|
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=)
|
rs145688323
|
0.00006
|
NM_006019.4(TCIRG1):c.1629C>T (p.Val543=)
|
rs367732638
|
0.00006
|
NM_006208.3(ENPP1):c.2445-5T>C
|
rs369942606
|
0.00006
|
NM_031471.6(FERMT3):c.1205-16C>T
|
rs537958912
|
0.00006
|
NM_031471.6(FERMT3):c.1434G>A (p.Thr478=)
|
rs368102589
|
0.00006
|
NM_031471.6(FERMT3):c.1464C>T (p.His488=)
|
rs200660798
|
0.00006
|
NM_031471.6(FERMT3):c.1545+12C>T
|
rs748289124
|
0.00006
|
NM_031471.6(FERMT3):c.1546-12A>G
|
rs766045189
|
0.00006
|
NM_031471.6(FERMT3):c.315C>G (p.Pro105=)
|
rs367568281
|
0.00006
|
NM_031471.6(FERMT3):c.642A>G (p.Pro214=)
|
rs375528370
|
0.00006
|
NM_031471.6(FERMT3):c.93G>A (p.Ser31=)
|
rs753418361
|
0.00006
|
NM_031471.6(FERMT3):c.963C>T (p.Asp321=)
|
rs370133642
|
0.00006
|
NM_207122.2(EXT2):c.182G>A (p.Arg61His)
|
rs151228794
|
0.00006
|
NM_207122.2(EXT2):c.357C>T (p.Gly119=)
|
rs753325648
|
0.00006
|
NM_000127.3(EXT1):c.1722+9C>T
|
rs371055794
|
0.00005
|
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp)
|
rs138855109
|
0.00005
|
NM_000127.3(EXT1):c.543C>T (p.Leu181=)
|
rs375583188
|
0.00005
|
NM_000376.3(VDR):c.162G>A (p.Arg54=)
|
rs774173372
|
0.00005
|
NM_001177316.2(SLC34A3):c.1179C>T (p.Ser393=)
|
rs200677629
|
0.00005
|
NM_002334.4(LRP4):c.1437C>T (p.Arg479=)
|
rs141108617
|
0.00005
|
NM_002334.4(LRP4):c.1779C>T (p.Ala593=)
|
rs202063944
|
0.00005
|
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=)
|
rs148361325
|
0.00005
|
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=)
|
rs779045515
|
0.00005
|
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=)
|
rs752801557
|
0.00005
|
NM_002334.4(LRP4):c.4584-15T>C
|
rs777314555
|
0.00005
|
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=)
|
rs200514161
|
0.00005
|
NM_002334.4(LRP4):c.922+13G>A
|
rs771013783
|
0.00005
|
NM_002335.4(LRP5):c.4489-6C>T
|
rs377737536
|
0.00005
|
NM_002335.4(LRP5):c.4782C>T (p.Pro1594=)
|
rs752602099
|
0.00005
|
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=)
|
rs137867155
|
0.00005
|
NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln)
|
rs1163121743
|
0.00005
|
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)
|
rs537142935
|
0.00005
|
NM_003900.5(SQSTM1):c.673+10G>C
|
rs753023157
|
0.00005
|
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=)
|
rs746159308
|
0.00005
|
NM_031471.6(FERMT3):c.1884C>T (p.His628=)
|
rs747261674
|
0.00005
|
NM_031471.6(FERMT3):c.432T>G (p.Ala144=)
|
rs752383968
|
0.00005
|
NM_207122.2(EXT2):c.1341G>A (p.Pro447=)
|
rs774039598
|
0.00005
|
NM_207122.2(EXT2):c.284G>A (p.Arg95His)
|
rs143703574
|
0.00005
|
NM_207122.2(EXT2):c.588C>T (p.Pro196=)
|
rs200009614
|
0.00005
|
NM_207122.2(EXT2):c.8C>T (p.Ala3Val)
|
rs201185639
|
0.00005
|
NM_000127.3(EXT1):c.1695C>T (p.Asp565=)
|
rs762218262
|
0.00004
|
NM_000127.3(EXT1):c.1743G>A (p.Val581=)
|
rs375284779
|
0.00004
|
NM_000127.3(EXT1):c.591C>T (p.Ser197=)
|
rs770795716
|
0.00004
|
NM_000127.3(EXT1):c.609C>T (p.Tyr203=)
|
rs886042484
|
0.00004
|
NM_001177316.2(SLC34A3):c.757-16C>T
|
rs372713559
|
0.00004
|
NM_002334.4(LRP4):c.1086C>T (p.Asn362=)
|
rs556905132
|
0.00004
|
NM_002334.4(LRP4):c.1308G>A (p.Leu436=)
|
rs750627555
|
0.00004
|
NM_002334.4(LRP4):c.132C>T (p.Cys44=)
|
rs760552036
|
0.00004
|
NM_002334.4(LRP4):c.1668C>T (p.Pro556=)
|
rs766741394
|
0.00004
|
NM_002334.4(LRP4):c.1932C>T (p.Phe644=)
|
rs1011484252
|
0.00004
|
NM_002334.4(LRP4):c.2093-16T>C
|
rs751168409
|
0.00004
|
NM_002334.4(LRP4):c.2202C>T (p.His734=)
|
rs757999800
|
0.00004
|
NM_002334.4(LRP4):c.2358C>T (p.His786=)
|
rs371677748
|
0.00004
|
NM_002334.4(LRP4):c.2535A>C (p.Thr845=)
|
rs145557677
|
0.00004
|
NM_002334.4(LRP4):c.2766C>T (p.Ala922=)
|
rs773599397
|
0.00004
|
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=)
|
rs768821263
|
0.00004
|
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=)
|
rs185084650
|
0.00004
|
NM_002334.4(LRP4):c.4665T>C (p.His1555=)
|
rs145206396
|
0.00004
|
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=)
|
rs780329570
|
0.00004
|
NM_002334.4(LRP4):c.5088-20C>T
|
rs370004451
|
0.00004
|
NM_002334.4(LRP4):c.53-7C>T
|
rs745407997
|
0.00004
|
NM_002334.4(LRP4):c.5586G>A (p.Thr1862=)
|
rs751494811
|
0.00004
|
NM_002334.4(LRP4):c.933A>G (p.Gln311=)
|
rs375108263
|
0.00004
|
NM_002335.4(LRP5):c.1563C>T (p.Asp521=)
|
rs750457614
|
0.00004
|
NM_002335.4(LRP5):c.3018C>T (p.Asp1006=)
|
rs146792434
|
0.00004
|
NM_002335.4(LRP5):c.3453C>T (p.Asp1151=)
|
rs147175387
|
0.00004
|
NM_002335.4(LRP5):c.3852C>T (p.Pro1284=)
|
rs144115017
|
0.00004
|
NM_002335.4(LRP5):c.489-7G>A
|
rs560234502
|
0.00004
|
NM_002335.4(LRP5):c.91+9G>C
|
rs569517144
|
0.00004
|
NM_002335.4(LRP5):c.924C>T (p.His308=)
|
rs756215440
|
0.00004
|
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=)
|
rs377213972
|
0.00004
|
NM_003052.5(SLC34A1):c.883T>A (p.Ser295Thr)
|
rs763096294
|
0.00004
|
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=)
|
rs768110162
|
0.00004
|
NM_003900.5(SQSTM1):c.456C>T (p.Ser152=)
|
rs145037913
|
0.00004
|
NM_003900.5(SQSTM1):c.540G>A (p.Ser180=)
|
rs370203737
|
0.00004
|
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His)
|
rs535606152
|
0.00004
|
NM_003900.5(SQSTM1):c.570C>T (p.His190=)
|
rs758110159
|
0.00004
|
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val)
|
rs202235745
|
0.00004
|
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)
|
rs140341924
|
0.00004
|
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=)
|
rs200695664
|
0.00004
|
NM_004252.5(NHERF1):c.252C>T (p.Asn84=)
|
rs781350887
|
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_031471.6(FERMT3):c.120G>A (p.Ser40=)
|
rs770220477
|
0.00004
|
NM_031471.6(FERMT3):c.126C>T (p.Ile42=)
|
rs145854519
|
0.00004
|
NM_031471.6(FERMT3):c.129C>T (p.Gly43=)
|
rs772711731
|
0.00004
|
NM_031471.6(FERMT3):c.1312-6G>A
|
rs751923843
|
0.00004
|
NM_031471.6(FERMT3):c.1312-7C>T
|
rs368719526
|
0.00004
|
NM_031471.6(FERMT3):c.1503C>T (p.Gly501=)
|
rs368698573
|
0.00004
|
NM_031471.6(FERMT3):c.160+10C>T
|
rs577691940
|
0.00004
|
NM_031471.6(FERMT3):c.483C>T (p.Leu161=)
|
rs781259522
|
0.00004
|
NM_031471.6(FERMT3):c.735C>T (p.Asp245=)
|
rs376170241
|
0.00004
|
NM_031471.6(FERMT3):c.795C>T (p.Pro265=)
|
rs578201604
|
0.00004
|
NM_207122.2(EXT2):c.1495+9C>G
|
rs768311130
|
0.00004
|
NM_207122.2(EXT2):c.1704T>A (p.Gly568=)
|
rs145878394
|
0.00004
|
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)
|
rs200613371
|
0.00004
|
NM_207122.2(EXT2):c.849C>T (p.Leu283=)
|
rs749093709
|
0.00004
|
NM_000067.3(CA2):c.648C>T (p.Ser216=)
|
rs376387073
|
0.00003
|
NM_000088.4(COL1A1):c.*1265C>T
|
rs567249120
|
0.00003
|
NM_000127.3(EXT1):c.1285-9A>G
|
rs761040629
|
0.00003
|
NM_000127.3(EXT1):c.1293G>A (p.Gln431=)
|
rs773449892
|
0.00003
|
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
|
rs374887549
|
0.00003
|
NM_000127.3(EXT1):c.1899A>G (p.Leu633=)
|
rs368191286
|
0.00003
|
NM_000376.3(VDR):c.219A>G (p.Arg73=)
|
rs369091846
|
0.00003
|
NM_000376.3(VDR):c.897C>T (p.Asp299=)
|
rs746128447
|
0.00003
|
NM_000444.6(PHEX):c.1587-16G>T
|
rs374593246
|
0.00003
|
NM_001177316.2(SLC34A3):c.1093+9G>A
|
rs199976309
|
0.00003
|
NM_001177316.2(SLC34A3):c.1335+6G>T
|
rs117115558
|
0.00003
|
NM_001177316.2(SLC34A3):c.18C>T (p.Pro6=)
|
rs772903522
|
0.00003
|
NM_001177316.2(SLC34A3):c.846+15C>T
|
rs755035076
|
0.00003
|
NM_002334.4(LRP4):c.1284C>T (p.Pro428=)
|
rs374136996
|
0.00003
|
NM_002334.4(LRP4):c.1368C>T (p.His456=)
|
rs570223328
|
0.00003
|
NM_002334.4(LRP4):c.3136+10A>G
|
rs377543577
|
0.00003
|
NM_002334.4(LRP4):c.3462C>T (p.Asp1154=)
|
rs570258125
|
0.00003
|
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=)
|
rs377557349
|
0.00003
|
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=)
|
rs751449110
|
0.00003
|
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=)
|
rs952249452
|
0.00003
|
NM_002334.4(LRP4):c.431-8C>T
|
rs150531536
|
0.00003
|
NM_002334.4(LRP4):c.501C>T (p.Cys167=)
|
rs369739623
|
0.00003
|
NM_002334.4(LRP4):c.504C>T (p.Asp168=)
|
rs749048211
|
0.00003
|
NM_002334.4(LRP4):c.5385+13A>G
|
rs370288647
|
0.00003
|
NM_002334.4(LRP4):c.768T>C (p.Cys256=)
|
rs774343834
|
0.00003
|
NM_002335.4(LRP5):c.4068C>T (p.Asp1356=)
|
rs367555198
|
0.00003
|
NM_002335.4(LRP5):c.4112-18T>C
|
rs549631739
|
0.00003
|
NM_002335.4(LRP5):c.4297G>A (p.Val1433Met)
|
rs199871539
|
0.00003
|
NM_002335.4(LRP5):c.883+9C>T
|
rs543311335
|
0.00003
|
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=)
|
rs767269039
|
0.00003
|
NM_003900.5(SQSTM1):c.1104C>T (p.Asp368=)
|
rs750140541
|
0.00003
|
NM_003900.5(SQSTM1):c.301+12C>G
|
rs141530539
|
0.00003
|
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=)
|
rs372518286
|
0.00003
|
NM_003900.5(SQSTM1):c.755-10C>T
|
rs763522925
|
0.00003
|
NM_006019.4(TCIRG1):c.2118+10G>A
|
rs775491643
|
0.00003
|
NM_031471.6(FERMT3):c.1080-17C>T
|
rs374311779
|
0.00003
|
NM_031471.6(FERMT3):c.1821C>T (p.Ile607=)
|
rs779453227
|
0.00003
|
NM_031471.6(FERMT3):c.1983G>A (p.Glu661=)
|
rs774698514
|
0.00003
|
NM_031471.6(FERMT3):c.324C>T (p.Arg108=)
|
rs755053623
|
0.00003
|
NM_031471.6(FERMT3):c.684-8C>T
|
rs775337789
|
0.00003
|
NM_207122.2(EXT2):c.1023G>A (p.Pro341=)
|
rs757323768
|
0.00003
|
NM_207122.2(EXT2):c.1080-6C>T
|
rs752180821
|
0.00003
|
NM_207122.2(EXT2):c.1194G>A (p.Ala398=)
|
rs1011914306
|
0.00003
|
NM_207122.2(EXT2):c.1461C>T (p.Val487=)
|
rs150758739
|
0.00003
|
NM_207122.2(EXT2):c.1935+11C>G
|
rs764143899
|
0.00003
|
NM_207122.2(EXT2):c.2052C>T (p.Phe684=)
|
rs746317053
|
0.00003
|
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
|
rs771039412
|
0.00003
|
NM_207122.2(EXT2):c.699T>C (p.Tyr233=)
|
rs1319747883
|
0.00003
|
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)
|
rs753455668
|
0.00002
|
NM_000127.3(EXT1):c.1338C>T (p.Asn446=)
|
rs745637397
|
0.00002
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000127.3(EXT1):c.148A>G (p.Ser50Gly)
|
rs772811741
|
0.00002
|
NM_000127.3(EXT1):c.1509T>A (p.Ala503=)
|
rs949806342
|
0.00002
|
NM_000127.3(EXT1):c.1608C>T (p.Val536=)
|
rs761252195
|
0.00002
|
NM_000127.3(EXT1):c.195C>T (p.Phe65=)
|
rs1202105470
|
0.00002
|
NM_000127.3(EXT1):c.2106G>A (p.Gln702=)
|
rs780640885
|
0.00002
|
NM_000127.3(EXT1):c.210A>G (p.Gln70=)
|
rs367543871
|
0.00002
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
NM_000127.3(EXT1):c.2172C>T (p.Leu724=)
|
rs570085150
|
0.00002
|
NM_000127.3(EXT1):c.66T>C (p.Tyr22=)
|
rs764093488
|
0.00002
|
NM_000127.3(EXT1):c.699T>C (p.Ser233=)
|
rs370644296
|
0.00002
|
NM_000127.3(EXT1):c.768C>T (p.Ile256=)
|
rs566692634
|
0.00002
|
NM_000127.3(EXT1):c.962+7G>C
|
rs778490814
|
0.00002
|
NM_000396.4(CTSK):c.30T>G (p.Pro10=)
|
rs139004720
|
0.00002
|
NM_000444.6(PHEX):c.*48G>A
|
rs765479131
|
0.00002
|
NM_002334.4(LRP4):c.105A>C (p.Ala35=)
|
rs766633369
|
0.00002
|
NM_002334.4(LRP4):c.1200C>T (p.Ala400=)
|
rs755019127
|
0.00002
|
NM_002334.4(LRP4):c.1209G>A (p.Gly403=)
|
rs751742961
|
0.00002
|
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=)
|
rs373523952
|
0.00002
|
NM_002334.4(LRP4):c.1731C>G (p.Pro577=)
|
rs762761020
|
0.00002
|
NM_002334.4(LRP4):c.1824C>T (p.Ala608=)
|
rs368577516
|
0.00002
|
NM_002334.4(LRP4):c.228T>C (p.Phe76=)
|
rs146007685
|
0.00002
|
NM_002334.4(LRP4):c.2425-20C>T
|
rs760531886
|
0.00002
|
NM_002334.4(LRP4):c.2481C>G (p.Thr827=)
|
rs759325895
|
0.00002
|
NM_002334.4(LRP4):c.2910C>T (p.Ser970=)
|
rs754936858
|
0.00002
|
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=)
|
rs534064794
|
0.00002
|
NM_002334.4(LRP4):c.3278-6C>T
|
rs373579793
|
0.00002
|
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=)
|
rs779892727
|
0.00002
|
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=)
|
rs775166531
|
0.00002
|
NM_002334.4(LRP4):c.471C>T (p.Asp157=)
|
rs765171137
|
0.00002
|
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=)
|
rs369034386
|
0.00002
|
NM_002334.4(LRP4):c.5087+14A>G
|
rs376251083
|
0.00002
|
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr)
|
rs541585714
|
0.00002
|
NM_002334.4(LRP4):c.548-20C>A
|
rs1267038625
|
0.00002
|
NM_002334.4(LRP4):c.585G>A (p.Glu195=)
|
rs147714102
|
0.00002
|
NM_002334.4(LRP4):c.923-16C>A
|
rs756847264
|
0.00002
|
NM_002335.4(LRP5):c.1801+9G>A
|
rs747941034
|
0.00002
|
NM_002335.4(LRP5):c.1923C>T (p.Ile641=)
|
rs17848264
|
0.00002
|
NM_002335.4(LRP5):c.2022C>T (p.Val674=)
|
rs748257457
|
0.00002
|
NM_002335.4(LRP5):c.3606T>C (p.His1202=)
|
rs779308864
|
0.00002
|
NM_002335.4(LRP5):c.3873C>T (p.Asp1291=)
|
rs1036528598
|
0.00002
|
NM_002335.4(LRP5):c.4248G>A (p.Ala1416=)
|
rs17848257
|
0.00002
|
NM_002335.4(LRP5):c.4638C>T (p.Asp1546=)
|
rs777923928
|
0.00002
|
NM_003052.5(SLC34A1):c.123C>T (p.Ile41=)
|
rs759907707
|
0.00002
|
NM_003052.5(SLC34A1):c.1469C>T (p.Pro490Leu)
|
rs372577906
|
0.00002
|
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys)
|
rs376158712
|
0.00002
|
NM_003900.5(SQSTM1):c.1165+15A>T
|
rs764410841
|
0.00002
|
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=)
|
rs745585269
|
0.00002
|
NM_003900.5(SQSTM1):c.216G>C (p.Gly72=)
|
rs757587948
|
0.00002
|
NM_003900.5(SQSTM1):c.234C>T (p.Ser78=)
|
rs746426826
|
0.00002
|
NM_003900.5(SQSTM1):c.532-19C>T
|
rs368559255
|
0.00002
|
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)
|
rs567433223
|
0.00002
|
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=)
|
rs747314158
|
0.00002
|
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)
|
rs762767720
|
0.00002
|
NM_003900.5(SQSTM1):c.969+19C>T
|
rs566253151
|
0.00002
|
NM_004252.5(NHERF1):c.85C>A (p.His29Asn)
|
rs765897805
|
0.00002
|
NM_006208.3(ENPP1):c.1274-5C>T
|
rs751500820
|
0.00002
|
NM_020638.3(FGF23):c.249G>A (p.Val83=)
|
rs753676774
|
0.00002
|
NM_031471.6(FERMT3):c.1269C>A (p.Pro423=)
|
rs760064066
|
0.00002
|
NM_031471.6(FERMT3):c.1546-5C>T
|
rs368775495
|
0.00002
|
NM_031471.6(FERMT3):c.1584C>T (p.Ala528=)
|
rs371831924
|
0.00002
|
NM_031471.6(FERMT3):c.1749C>T (p.Asp583=)
|
rs112045200
|
0.00002
|
NM_031471.6(FERMT3):c.1813-13G>A
|
rs372936910
|
0.00002
|
NM_031471.6(FERMT3):c.264C>T (p.Asp88=)
|
rs759003628
|
0.00002
|
NM_031471.6(FERMT3):c.421C>T (p.Leu141=)
|
rs768084793
|
0.00002
|
NM_031471.6(FERMT3):c.683+17C>G
|
rs765943402
|
0.00002
|
NM_031471.6(FERMT3):c.75G>A (p.Glu25=)
|
rs139520045
|
0.00002
|
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)
|
rs527624522
|
0.00002
|
NM_207122.2(EXT2):c.1306-7C>G
|
rs771232346
|
0.00002
|
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=)
|
rs1166915261
|
0.00002
|
NM_207122.2(EXT2):c.1587C>T (p.Ile529=)
|
rs765251957
|
0.00002
|
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys)
|
rs1804679
|
0.00002
|
NM_207122.2(EXT2):c.2018+17C>T
|
rs375554352
|
0.00002
|
NM_207122.2(EXT2):c.743+10A>C
|
rs762753229
|
0.00002
|
NM_207122.2(EXT2):c.93C>T (p.Ser31=)
|
rs747830835
|
0.00002
|
NM_000067.3(CA2):c.453C>T (p.Ser151=)
|
rs189189209
|
0.00001
|
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)
|
rs538844573
|
0.00001
|
NM_000127.3(EXT1):c.1014T>G (p.Arg338=)
|
rs750458103
|
0.00001
|
NM_000127.3(EXT1):c.1164+8A>G
|
rs765877825
|
0.00001
|
NM_000127.3(EXT1):c.123C>T (p.Ser41=)
|
rs1186563531
|
0.00001
|
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
|
rs899395870
|
0.00001
|
NM_000127.3(EXT1):c.1284+19C>T
|
rs774601928
|
0.00001
|
NM_000127.3(EXT1):c.1354T>C (p.Leu452=)
|
rs1372000855
|
0.00001
|
NM_000127.3(EXT1):c.1467C>G (p.Pro489=)
|
rs747800473
|
0.00001
|
NM_000127.3(EXT1):c.1545T>A (p.Val515=)
|
rs200372337
|
0.00001
|
NM_000127.3(EXT1):c.1704G>A (p.Thr568=)
|
rs146389596
|
0.00001
|
NM_000127.3(EXT1):c.1740A>G (p.Thr580=)
|
rs1340368285
|
0.00001
|
NM_000127.3(EXT1):c.1758T>C (p.Pro586=)
|
rs771063505
|
0.00001
|
NM_000127.3(EXT1):c.1839G>A (p.Thr613=)
|
rs765677175
|
0.00001
|
NM_000127.3(EXT1):c.1920C>T (p.Ala640=)
|
rs1480072354
|
0.00001
|
NM_000127.3(EXT1):c.2010C>T (p.Ile670=)
|
rs745677100
|
0.00001
|
NM_000127.3(EXT1):c.2055+17C>T
|
rs1295508874
|
0.00001
|
NM_000127.3(EXT1):c.2055+7A>C
|
rs889836376
|
0.00001
|
NM_000127.3(EXT1):c.2121G>A (p.Thr707=)
|
rs746184779
|
0.00001
|
NM_000127.3(EXT1):c.2199C>G (p.Val733=)
|
rs201230140
|
0.00001
|
NM_000127.3(EXT1):c.303G>A (p.Glu101=)
|
rs893833607
|
0.00001
|
NM_000127.3(EXT1):c.405A>G (p.Leu135=)
|
rs1401060657
|
0.00001
|
NM_000127.3(EXT1):c.69C>T (p.Phe23=)
|
rs200276819
|
0.00001
|
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu)
|
rs202055627
|
0.00001
|
NM_000444.6(PHEX):c.1008C>T (p.Ser336=)
|
rs775973349
|
0.00001
|
NM_000444.6(PHEX):c.1966-10C>G
|
rs771050789
|
0.00001
|
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=)
|
rs546648396
|
0.00001
|
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val)
|
rs200953235
|
0.00001
|
NM_001177316.2(SLC34A3):c.1629T>C (p.Pro543=)
|
rs545784124
|
0.00001
|
NM_001177316.2(SLC34A3):c.312G>A (p.Val104=)
|
rs1040164729
|
0.00001
|
NM_001177316.2(SLC34A3):c.561-9C>T
|
rs1469811548
|
0.00001
|
NM_001287.6(CLCN7):c.*1589G>C
|
rs532736933
|
0.00001
|
NM_002334.4(LRP4):c.1049-6G>C
|
rs775792196
|
0.00001
|
NM_002334.4(LRP4):c.1212T>C (p.Tyr404=)
|
rs1941501832
|
0.00001
|
NM_002334.4(LRP4):c.1251A>G (p.Gln417=)
|
rs753671990
|
0.00001
|
NM_002334.4(LRP4):c.1310-7T>A
|
rs1555174059
|
0.00001
|
NM_002334.4(LRP4):c.1344C>T (p.Ile448=)
|
rs748651620
|
0.00001
|
NM_002334.4(LRP4):c.1365A>G (p.Pro455=)
|
rs143481229
|
0.00001
|
NM_002334.4(LRP4):c.1599G>A (p.Ser533=)
|
rs745607132
|
0.00001
|
NM_002334.4(LRP4):c.1761T>C (p.Ser587=)
|
rs1191198188
|
0.00001
|
NM_002334.4(LRP4):c.1815C>T (p.Ile605=)
|
rs776484339
|
0.00001
|
NM_002334.4(LRP4):c.186T>C (p.Asp62=)
|
rs1941691871
|
0.00001
|
NM_002334.4(LRP4):c.1915+10T>C
|
rs566481615
|
0.00001
|
NM_002334.4(LRP4):c.2010G>A (p.Thr670=)
|
rs199654257
|
0.00001
|
NM_002334.4(LRP4):c.2118C>T (p.Asn706=)
|
rs762032159
|
0.00001
|
NM_002334.4(LRP4):c.21G>A (p.Ala7=)
|
rs967769665
|
0.00001
|
NM_002334.4(LRP4):c.2216-13G>A
|
rs376073181
|
0.00001
|
NM_002334.4(LRP4):c.2325T>G (p.Ala775=)
|
rs886048354
|
0.00001
|
NM_002334.4(LRP4):c.2424+12C>T
|
rs765593279
|
0.00001
|
NM_002334.4(LRP4):c.2424+13G>A
|
rs374365893
|
0.00001
|
NM_002334.4(LRP4):c.2835C>T (p.Leu945=)
|
rs201362411
|
0.00001
|
NM_002334.4(LRP4):c.2859C>T (p.Leu953=)
|
rs1368908778
|
0.00001
|
NM_002334.4(LRP4):c.3005-17C>T
|
rs778370608
|
0.00001
|
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=)
|
rs537403005
|
0.00001
|
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=)
|
rs1000744964
|
0.00001
|
NM_002334.4(LRP4):c.3137-8C>T
|
rs1941047135
|
0.00001
|
NM_002334.4(LRP4):c.317-11T>C
|
rs776234303
|
0.00001
|
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=)
|
rs745991521
|
0.00001
|
NM_002334.4(LRP4):c.3277+11C>T
|
rs761158182
|
0.00001
|
NM_002334.4(LRP4):c.3365-7C>T
|
rs1565783851
|
0.00001
|
NM_002334.4(LRP4):c.339C>T (p.Asp113=)
|
rs368971854
|
0.00001
|
NM_002334.4(LRP4):c.3609G>A (p.Ala1203=)
|
rs755263623
|
0.00001
|
NM_002334.4(LRP4):c.3699+10G>A
|
rs770541308
|
0.00001
|
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=)
|
rs200028319
|
0.00001
|
NM_002334.4(LRP4):c.390T>C (p.Asp130=)
|
rs140186161
|
0.00001
|
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=)
|
rs1424152195
|
0.00001
|
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=)
|
rs771308040
|
0.00001
|
NM_002334.4(LRP4):c.4176T>C (p.Tyr1392=)
|
rs1246562304
|
0.00001
|
NM_002334.4(LRP4):c.417C>T (p.Ser139=)
|
rs760201117
|
0.00001
|
NM_002334.4(LRP4):c.430+7G>A
|
rs1261702662
|
0.00001
|
NM_002334.4(LRP4):c.441G>A (p.Lys147=)
|
rs986524567
|
0.00001
|
NM_002334.4(LRP4):c.4501T>C (p.Leu1501=)
|
rs766956711
|
0.00001
|
NM_002334.4(LRP4):c.4899G>A (p.Ser1633=)
|
rs143849188
|
0.00001
|
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=)
|
rs762976165
|
0.00001
|
NM_002334.4(LRP4):c.5088-19A>C
|
rs1338147762
|
0.00001
|
NM_002334.4(LRP4):c.5088-5C>T
|
rs994961184
|
0.00001
|
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=)
|
rs777935842
|
0.00001
|
NM_002334.4(LRP4):c.5156-15C>A
|
rs1204328295
|
0.00001
|
NM_002334.4(LRP4):c.52+13C>T
|
rs1434991490
|
0.00001
|
NM_002334.4(LRP4):c.5247C>T (p.His1749=)
|
rs138596351
|
0.00001
|
NM_002334.4(LRP4):c.531C>T (p.Ser177=)
|
rs751226124
|
0.00001
|
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=)
|
rs376540994
|
0.00001
|
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=)
|
rs772706817
|
0.00001
|
NM_002334.4(LRP4):c.548-18C>A
|
rs779705585
|
0.00001
|
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=)
|
rs767372541
|
0.00001
|
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=)
|
rs762431184
|
0.00001
|
NM_002334.4(LRP4):c.724C>T (p.Leu242=)
|
rs1037889784
|
0.00001
|
NM_002334.4(LRP4):c.750C>T (p.Cys250=)
|
rs758493823
|
0.00001
|
NM_002334.4(LRP4):c.759C>T (p.Asp253=)
|
rs368640705
|
0.00001
|
NM_002334.4(LRP4):c.894C>T (p.Asn298=)
|
rs1592542950
|
0.00001
|
NM_002334.4(LRP4):c.922+12C>T
|
rs1297911489
|
0.00001
|
NM_002334.4(LRP4):c.922+19C>G
|
rs749318305
|
0.00001
|
NM_002334.4(LRP4):c.923-19T>C
|
rs528895748
|
0.00001
|
NM_002335.4(LRP5):c.1016-10G>A
|
rs1271777311
|
0.00001
|
NM_002335.4(LRP5):c.1707G>A (p.Glu569=)
|
rs199707305
|
0.00001
|
NM_002335.4(LRP5):c.2265C>T (p.Leu755=)
|
rs1022762292
|
0.00001
|
NM_002335.4(LRP5):c.2625C>T (p.Ser875=)
|
rs999634205
|
0.00001
|
NM_002335.4(LRP5):c.2688C>T (p.His896=)
|
rs1395883769
|
0.00001
|
NM_002335.4(LRP5):c.2828-15C>T
|
rs951283192
|
0.00001
|
NM_002335.4(LRP5):c.3951C>T (p.Cys1317=)
|
rs141306017
|
0.00001
|
NM_002335.4(LRP5):c.4000+15G>A
|
rs563578294
|
0.00001
|
NM_002335.4(LRP5):c.4143G>A (p.Pro1381=)
|
rs759659671
|
0.00001
|
NM_002335.4(LRP5):c.4167C>T (p.Pro1389=)
|
rs780535389
|
0.00001
|
NM_002335.4(LRP5):c.4269G>A (p.Pro1423=)
|
rs139701701
|
0.00001
|
NM_002755.4(MAP2K1):c.693+20T>C
|
rs753107656
|
0.00001
|
NM_003052.5(SLC34A1):c.397G>A (p.Ala133Thr)
|
rs771178295
|
0.00001
|
NM_003839.4(TNFRSF11A):c.*2086G>A
|
rs528958493
|
0.00001
|
NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=)
|
rs982817243
|
0.00001
|
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=)
|
rs771948860
|
0.00001
|
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=)
|
rs778199086
|
0.00001
|
NM_003900.5(SQSTM1):c.1166-6C>T
|
rs762322293
|
0.00001
|
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=)
|
rs766437927
|
0.00001
|
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=)
|
rs573881131
|
0.00001
|
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=)
|
rs987821927
|
0.00001
|
NM_003900.5(SQSTM1):c.160C>T (p.Leu54=)
|
rs1033321881
|
0.00001
|
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)
|
rs774355338
|
0.00001
|
NM_003900.5(SQSTM1):c.189C>T (p.Phe63=)
|
rs1278023995
|
0.00001
|
NM_003900.5(SQSTM1):c.195G>A (p.Ala65=)
|
rs986341874
|
0.00001
|
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=)
|
rs780842511
|
0.00001
|
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=)
|
rs148366738
|
0.00001
|
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=)
|
rs150883783
|
0.00001
|
NM_003900.5(SQSTM1):c.302-5T>C
|
rs199527061
|
0.00001
|
NM_003900.5(SQSTM1):c.315C>T (p.Cys105=)
|
rs770804860
|
0.00001
|
NM_003900.5(SQSTM1):c.321G>A (p.Arg107=)
|
rs1378204039
|
0.00001
|
NM_003900.5(SQSTM1):c.33G>C (p.Leu11=)
|
rs1476097073
|
0.00001
|
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=)
|
rs768088721
|
0.00001
|
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=)
|
rs1007964808
|
0.00001
|
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=)
|
rs769497182
|
0.00001
|
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=)
|
rs1387392776
|
0.00001
|
NM_003900.5(SQSTM1):c.531+15T>C
|
rs1280173893
|
0.00001
|
NM_003900.5(SQSTM1):c.532-14A>G
|
rs748661765
|
0.00001
|
NM_003900.5(SQSTM1):c.532-7C>T
|
rs770329828
|
0.00001
|
NM_003900.5(SQSTM1):c.546C>T (p.Ser182=)
|
rs759721454
|
0.00001
|
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)
|
rs878982215
|
0.00001
|
NM_003900.5(SQSTM1):c.663G>A (p.Thr221=)
|
rs758128093
|
0.00001
|
NM_003900.5(SQSTM1):c.674-7A>C
|
rs776278684
|
0.00001
|
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=)
|
rs889431769
|
0.00001
|
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=)
|
rs774460525
|
0.00001
|
NM_003900.5(SQSTM1):c.755-7C>T
|
rs781389243
|
0.00001
|
NM_003900.5(SQSTM1):c.755-9C>T
|
rs759140266
|
0.00001
|
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu)
|
rs182522590
|
0.00001
|
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=)
|
rs779544030
|
0.00001
|
NM_003900.5(SQSTM1):c.810C>T (p.Pro270=)
|
rs1280918343
|
0.00001
|
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=)
|
rs755859379
|
0.00001
|
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=)
|
rs766129922
|
0.00001
|
NM_003900.5(SQSTM1):c.970-14G>A
|
rs761682844
|
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_006208.3(ENPP1):c.1791T>C (p.Asn597=)
|
rs548504035
|
0.00001
|
NM_006208.3(ENPP1):c.2311+8A>G
|
rs760047831
|
0.00001
|
NM_006208.3(ENPP1):c.795+12A>G
|
rs1781980876
|
0.00001
|
NM_014028.4(OSTM1):c.960C>G (p.Leu320=)
|
rs201793834
|
0.00001
|
NM_016175.4(MRNIP):c.719C>G (p.Ser240Ter)
|
rs199887787
|
0.00001
|
NM_020638.3(FGF23):c.138A>G (p.Thr46=)
|
rs368115734
|
0.00001
|
NM_020638.3(FGF23):c.51C>T (p.Cys17=)
|
rs752187740
|
0.00001
|
NM_024514.5(CYP2R1):c.1001-5G>C
|
rs782338771
|
0.00001
|
NM_031471.6(FERMT3):c.1029+18G>A
|
rs768788260
|
0.00001
|
NM_031471.6(FERMT3):c.1029+19C>G
|
rs986189621
|
0.00001
|
NM_031471.6(FERMT3):c.1030-9C>G
|
rs368225468
|
0.00001
|
NM_031471.6(FERMT3):c.1047C>A (p.Ile349=)
|
rs779076021
|
0.00001
|
NM_031471.6(FERMT3):c.1079+8G>T
|
rs568273430
|
0.00001
|
NM_031471.6(FERMT3):c.1080-4G>A
|
rs764978388
|
0.00001
|
NM_031471.6(FERMT3):c.1236C>T (p.Ser412=)
|
rs187514956
|
0.00001
|
NM_031471.6(FERMT3):c.1239C>T (p.Gly413=)
|
rs748029046
|
0.00001
|
NM_031471.6(FERMT3):c.1260C>T (p.Leu420=)
|
rs779788201
|
0.00001
|
NM_031471.6(FERMT3):c.1374C>T (p.Ala458=)
|
rs762230079
|
0.00001
|
NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn)
|
rs369062120
|
0.00001
|
NM_031471.6(FERMT3):c.1527A>C (p.Arg509=)
|
rs755898664
|
0.00001
|
NM_031471.6(FERMT3):c.160+11G>A
|
rs1017427707
|
0.00001
|
NM_031471.6(FERMT3):c.1609C>T (p.Leu537=)
|
rs772807042
|
0.00001
|
NM_031471.6(FERMT3):c.161-5C>T
|
rs369340432
|
0.00001
|
NM_031471.6(FERMT3):c.1635C>G (p.Ser545=)
|
rs765423929
|
0.00001
|
NM_031471.6(FERMT3):c.1707C>T (p.Ile569=)
|
rs746482825
|
0.00001
|
NM_031471.6(FERMT3):c.1731C>T (p.Ile577=)
|
rs184609471
|
0.00001
|
NM_031471.6(FERMT3):c.1842T>C (p.Asn614=)
|
rs754873524
|
0.00001
|
NM_031471.6(FERMT3):c.1896G>A (p.Gly632=)
|
rs1307248777
|
0.00001
|
NM_031471.6(FERMT3):c.369T>C (p.Ala123=)
|
rs1165361379
|
0.00001
|
NM_031471.6(FERMT3):c.395-10C>T
|
rs1259281702
|
0.00001
|
NM_031471.6(FERMT3):c.42G>A (p.Ser14=)
|
rs1179556498
|
0.00001
|
NM_031471.6(FERMT3):c.660A>G (p.Ser220=)
|
rs1456049623
|
0.00001
|
NM_031471.6(FERMT3):c.683+20C>T
|
rs1565290775
|
0.00001
|
NM_031471.6(FERMT3):c.6G>A (p.Ala2=)
|
rs767213325
|
0.00001
|
NM_031471.6(FERMT3):c.708C>T (p.Leu236=)
|
rs749769689
|
0.00001
|
NM_031471.6(FERMT3):c.786+8G>A
|
rs376909061
|
0.00001
|
NM_031471.6(FERMT3):c.787-12C>T
|
rs1251257822
|
0.00001
|
NM_031471.6(FERMT3):c.889C>T (p.Leu297=)
|
rs753533257
|
0.00001
|
NM_031471.6(FERMT3):c.894+16G>A
|
rs747695131
|
0.00001
|
NM_031471.6(FERMT3):c.939G>A (p.Pro313=)
|
rs1239621595
|
0.00001
|
NM_054027.6(ANKH):c.39G>C (p.Leu13=)
|
rs748751320
|
0.00001
|
NM_207122.2(EXT2):c.1003T>C (p.Leu335=)
|
rs766467969
|
0.00001
|
NM_207122.2(EXT2):c.1173+18G>A
|
rs760436963
|
0.00001
|
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly)
|
rs769052712
|
0.00001
|
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr)
|
rs530523884
|
0.00001
|
NM_207122.2(EXT2):c.1231C>T (p.Leu411=)
|
rs914948841
|
0.00001
|
NM_207122.2(EXT2):c.1305+12C>G
|
rs767006996
|
0.00001
|
NM_207122.2(EXT2):c.1518G>T (p.Arg506=)
|
rs747230848
|
0.00001
|
NM_207122.2(EXT2):c.1974A>G (p.Thr658=)
|
rs1319948823
|
0.00001
|
NM_207122.2(EXT2):c.211C>T (p.Leu71=)
|
rs766800368
|
0.00001
|
NM_207122.2(EXT2):c.2136C>T (p.Phe712=)
|
rs575302404
|
0.00001
|
NM_207122.2(EXT2):c.219C>T (p.Ala73=)
|
rs774620075
|
0.00001
|
NM_207122.2(EXT2):c.246T>C (p.Asp82=)
|
rs559280035
|
0.00001
|
NM_207122.2(EXT2):c.252T>C (p.Ser84=)
|
rs1463030663
|
0.00001
|
NM_207122.2(EXT2):c.267G>A (p.Thr89=)
|
rs1386417457
|
0.00001
|
NM_207122.2(EXT2):c.408C>T (p.Ala136=)
|
rs777178095
|
0.00001
|
NM_207122.2(EXT2):c.537-19A>G
|
rs764148237
|
0.00001
|
NM_207122.2(EXT2):c.678C>T (p.Tyr226=)
|
rs1406801697
|
0.00001
|
NM_207122.2(EXT2):c.744-11T>A
|
rs754484381
|
0.00001
|
NM_207122.2(EXT2):c.753A>G (p.Gln251=)
|
rs1310756667
|
0.00001
|
NM_207122.2(EXT2):c.936A>G (p.Leu312=)
|
rs760218623
|
0.00001
|
NM_207122.2(EXT2):c.940-9T>C
|
rs374555467
|
0.00001
|
NM_207122.2(EXT2):c.9G>A (p.Ala3=)
|
rs774142487
|
0.00001
|
NM_000088.4(COL1A1):c.*243_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*681_*682insAGCA
|
rs3840870
|
|
NM_000088.4(COL1A1):c.*88T>A
|
rs1061237
|
|
NM_000088.4(COL1A1):c.-98G>A
|
rs574683904
|
|
NM_000088.4(COL1A1):c.1056+12dup
|
rs766175536
|
|
NM_000088.4(COL1A1):c.1983+9G>T
|
rs201091992
|
|
NM_000127.3(EXT1):c.1038A>G (p.Arg346=)
|
rs2129791072
|
|
NM_000127.3(EXT1):c.1050T>G (p.Ala350=)
|
rs751521449
|
|
NM_000127.3(EXT1):c.1101A>G (p.Pro367=)
|
|
|
NM_000127.3(EXT1):c.1134C>T (p.Ala378=)
|
|
|
NM_000127.3(EXT1):c.1137C>T (p.Val379=)
|
|
|
NM_000127.3(EXT1):c.1164+15G>A
|
|
|
NM_000127.3(EXT1):c.1165-4A>G
|
|
|
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
|
|
|
NM_000127.3(EXT1):c.1239G>A (p.Glu413=)
|
rs756701753
|
|
NM_000127.3(EXT1):c.1263G>A (p.Lys421=)
|
rs2129772013
|
|
NM_000127.3(EXT1):c.1269A>G (p.Val423=)
|
|
|
NM_000127.3(EXT1):c.1284+12del
|
|
|
NM_000127.3(EXT1):c.1284+20T>C
|
|
|
NM_000127.3(EXT1):c.1284+7G>A
|
|
|
NM_000127.3(EXT1):c.1285-6T>G
|
|
|
NM_000127.3(EXT1):c.1297A>C (p.Arg433=)
|
rs1037557280
|
|
NM_000127.3(EXT1):c.1368A>G (p.Pro456=)
|
|
|
NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)
|
|
|
NM_000127.3(EXT1):c.1417+16C>T
|
|
|
NM_000127.3(EXT1):c.1417+19G>C
|
|
|
NM_000127.3(EXT1):c.1418-13C>T
|
|
|
NM_000127.3(EXT1):c.1418-13_1418-11del
|
rs1203626052
|
|
NM_000127.3(EXT1):c.1418-20T>C
|
rs376258820
|
|
NM_000127.3(EXT1):c.1418-7A>G
|
|
|
NM_000127.3(EXT1):c.1418-8T>G
|
|
|
NM_000127.3(EXT1):c.141C>T (p.His47=)
|
|
|
NM_000127.3(EXT1):c.1425G>A (p.Lys475=)
|
rs1442814688
|
|
NM_000127.3(EXT1):c.1458G>A (p.Ala486=)
|
rs765275156
|
|
NM_000127.3(EXT1):c.147C>T (p.Pro49=)
|
rs1248782526
|
|
NM_000127.3(EXT1):c.1503C>T (p.Leu501=)
|
rs146108006
|
|
NM_000127.3(EXT1):c.1515C>A (p.Ala505=)
|
rs2129740778
|
|
NM_000127.3(EXT1):c.1536+11A>G
|
|
|
NM_000127.3(EXT1):c.153G>A (p.Pro51=)
|
|
|
NM_000127.3(EXT1):c.1599T>C (p.Ala533=)
|
|
|
NM_000127.3(EXT1):c.1611C>T (p.Val537=)
|
|
|
NM_000127.3(EXT1):c.1632+10G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>C
|
|
|
NM_000127.3(EXT1):c.1632+9C>A
|
rs368634215
|
|
NM_000127.3(EXT1):c.1633-14C>G
|
|
|
NM_000127.3(EXT1):c.1633-15T>A
|
|
|
NM_000127.3(EXT1):c.1633-16T>C
|
|
|
NM_000127.3(EXT1):c.1635T>G (p.Val545=)
|
|
|
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala)
|
rs368004125
|
|
NM_000127.3(EXT1):c.1677C>T (p.Asp559=)
|
rs752594306
|
|
NM_000127.3(EXT1):c.1722+11A>G
|
|
|
NM_000127.3(EXT1):c.1723-17T>A
|
rs2129702062
|
|
NM_000127.3(EXT1):c.1731C>T (p.Phe577=)
|
|
|
NM_000127.3(EXT1):c.1842C>T (p.Asn614=)
|
|
|
NM_000127.3(EXT1):c.1845C>T (p.Asp615=)
|
rs2129701116
|
|
NM_000127.3(EXT1):c.1848C>T (p.Tyr616=)
|
|
|
NM_000127.3(EXT1):c.1872T>C (p.Ala624=)
|
rs1823251633
|
|
NM_000127.3(EXT1):c.1883+14A>T
|
|
|
NM_000127.3(EXT1):c.1887T>C (p.Tyr629=)
|
rs1823215215
|
|
NM_000127.3(EXT1):c.1944A>G (p.Gln648=)
|
|
|
NM_000127.3(EXT1):c.1945T>C (p.Leu649=)
|
|
|
NM_000127.3(EXT1):c.1983G>A (p.Val661=)
|
rs962526270
|
|
NM_000127.3(EXT1):c.1998A>G (p.Lys666=)
|
|
|
NM_000127.3(EXT1):c.2016G>A (p.Val672=)
|
|
|
NM_000127.3(EXT1):c.2043A>T (p.Thr681=)
|
rs746481404
|
|
NM_000127.3(EXT1):c.2055+10G>A
|
|
|
NM_000127.3(EXT1):c.2055+20del
|
|
|
NM_000127.3(EXT1):c.2056-14C>G
|
|
|
NM_000127.3(EXT1):c.2056-14C>T
|
rs759290391
|
|
NM_000127.3(EXT1):c.2067T>G (p.Ala689=)
|
|
|
NM_000127.3(EXT1):c.2079T>C (p.Ala693=)
|
|
|
NM_000127.3(EXT1):c.211T>C (p.Leu71=)
|
|
|
NM_000127.3(EXT1):c.2179G>A (p.Val727Ile)
|
|
|
NM_000127.3(EXT1):c.2199C>T (p.Val733=)
|
rs201230140
|
|
NM_000127.3(EXT1):c.240T>C (p.Ile80=)
|
|
|
NM_000127.3(EXT1):c.243C>A (p.Ser81=)
|
rs916118962
|
|
NM_000127.3(EXT1):c.315T>C (p.Asp105=)
|
|
|
NM_000127.3(EXT1):c.384C>G (p.Ala128=)
|
|
|
NM_000127.3(EXT1):c.414C>T (p.Ile138=)
|
|
|
NM_000127.3(EXT1):c.423C>T (p.Ser141=)
|
rs2130043533
|
|
NM_000127.3(EXT1):c.441C>T (p.Asp147=)
|
|
|
NM_000127.3(EXT1):c.453G>C (p.Ala151=)
|
rs780843781
|
|
NM_000127.3(EXT1):c.465C>T (p.Val155=)
|
|
|
NM_000127.3(EXT1):c.528C>G (p.Ser176=)
|
|
|
NM_000127.3(EXT1):c.558T>C (p.Asn186=)
|
rs1817877428
|
|
NM_000127.3(EXT1):c.582T>C (p.Asn194=)
|
|
|
NM_000127.3(EXT1):c.615G>A (p.Glu205=)
|
|
|
NM_000127.3(EXT1):c.648G>A (p.Leu216=)
|
rs2130042468
|
|
NM_000127.3(EXT1):c.663C>T (p.Ile221=)
|
|
|
NM_000127.3(EXT1):c.678C>T (p.Phe226=)
|
|
|
NM_000127.3(EXT1):c.726C>T (p.Pro242=)
|
|
|
NM_000127.3(EXT1):c.765C>G (p.Thr255=)
|
|
|
NM_000127.3(EXT1):c.774T>A (p.Pro258=)
|
|
|
NM_000127.3(EXT1):c.783G>A (p.Lys261=)
|
|
|
NM_000127.3(EXT1):c.792G>A (p.Leu264=)
|
|
|
NM_000127.3(EXT1):c.844G>A (p.Ala282Thr)
|
|
|
NM_000127.3(EXT1):c.855C>T (p.His285=)
|
|
|
NM_000127.3(EXT1):c.962+17del
|
|
|
NM_000127.3(EXT1):c.962+18C>T
|
|
|
NM_000127.3(EXT1):c.962+7G>A
|
rs778490814
|
|
NM_000127.3(EXT1):c.963-13C>T
|
|
|
NM_000127.3(EXT1):c.963-14T>G
|
|
|
NM_000127.3(EXT1):c.963-15C>T
|
|
|
NM_000127.3(EXT1):c.963-7dup
|
rs2129791582
|
|
NM_000127.3(EXT1):c.969T>C (p.Asp323=)
|
|
|
NM_000127.3(EXT1):c.96G>A (p.Arg32=)
|
|
|
NM_000127.3(EXT1):c.978A>G (p.Glu326=)
|
rs2129791475
|
|
NM_000444.6(PHEX):c.420A>G (p.Ser140=)
|
rs1158378032
|
|
NM_000444.6(PHEX):c.440C>T (p.Ala147Val)
|
rs749081778
|
|
NM_000444.6(PHEX):c.441G>A (p.Ala147=)
|
rs770726332
|
|
NM_000444.6(PHEX):c.653A>G (p.His218Arg)
|
rs774907553
|
|
NM_000505.4(F12):c.1251-7C>T
|
rs375340260
|
|
NM_000785.4(CYP27B1):c.386+14G>A
|
rs373607899
|
|
NM_001177316.2(SLC34A3):c.1326C>T (p.Ser442=)
|
rs144275345
|
|
NM_001177316.2(SLC34A3):c.1402C>A (p.Arg468=)
|
rs121918238
|
|
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)
|
rs532224704
|
|
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn)
|
rs145877051
|
|
NM_001177316.2(SLC34A3):c.870C>A (p.Gly290=)
|
rs747540875
|
|
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)
|
rs34664302
|
|
NM_001287.6(CLCN7):c.*1144dup
|
rs146690487
|
|
NM_001287.6(CLCN7):c.*1619GGT[1]
|
rs143409179
|
|
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
|
|
|
NM_002334.4(LRP4):c.1029A>G (p.Glu343=)
|
rs761739869
|
|
NM_002334.4(LRP4):c.1048+13A>G
|
|
|
NM_002334.4(LRP4):c.1049-10G>C
|
rs2134853583
|
|
NM_002334.4(LRP4):c.1049-20C>T
|
|
|
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
|
|
|
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
|
|
|
NM_002334.4(LRP4):c.1146A>G (p.Thr382=)
|
rs2134853133
|
|
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
|
|
|
NM_002334.4(LRP4):c.1184-18C>T
|
|
|
NM_002334.4(LRP4):c.1184-5C>T
|
|
|
NM_002334.4(LRP4):c.1218C>T (p.Ser406=)
|
rs2134851406
|
|
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
|
|
|
NM_002334.4(LRP4):c.1302G>A (p.Lys434=)
|
|
|
NM_002334.4(LRP4):c.1306C>T (p.Leu436=)
|
rs368827270
|
|
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
|
|
|
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
|
|
|
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
|
|
|
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
|
|
|
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
|
|
|
NM_002334.4(LRP4):c.1503C>T (p.Asn501=)
|
|
|
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
|
|
|
NM_002334.4(LRP4):c.1540+13G>A
|
|
|
NM_002334.4(LRP4):c.1540+17C>A
|
|
|
NM_002334.4(LRP4):c.1540+18A>G
|
|
|
NM_002334.4(LRP4):c.1540+9C>T
|
|
|
NM_002334.4(LRP4):c.1541-16T>C
|
|
|
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
|
|
|
NM_002334.4(LRP4):c.1546C>T (p.Leu516=)
|
rs1592539185
|
|
NM_002334.4(LRP4):c.1584C>A (p.Thr528=)
|
rs574108233
|
|
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
|
|
|
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
|
|
|
NM_002334.4(LRP4):c.1697+19T>C
|
|
|
NM_002334.4(LRP4):c.1755T>C (p.Asp585=)
|
|
|
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
|
|
|
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
|
|
|
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
|
|
|
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
|
|
|
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
|
|
|
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
|
|
|
NM_002334.4(LRP4):c.1915+8C>A
|
|
|
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
|
|
|
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
|
|
|
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
|
|
|
NM_002334.4(LRP4):c.199+12C>T
|
|
|
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
|
|
|
NM_002334.4(LRP4):c.200-26TTTTC[2]
|
rs760673637
|
|
NM_002334.4(LRP4):c.200-26TTTTC[4]
|
|
|
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
|
|
|
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
|
|
|
NM_002334.4(LRP4):c.2028C>T (p.Ile676=)
|
rs1941385384
|
|
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
|
|
|
NM_002334.4(LRP4):c.2073C>T (p.His691=)
|
|
|
NM_002334.4(LRP4):c.2092+12C>T
|
|
|
NM_002334.4(LRP4):c.2092+18G>A
|
|
|
NM_002334.4(LRP4):c.2092+20G>C
|
|
|
NM_002334.4(LRP4):c.2093-19C>T
|
rs1181290875
|
|
NM_002334.4(LRP4):c.2130G>A (p.Thr710=)
|
rs199674492
|
|
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
|
|
|
NM_002334.4(LRP4):c.2175C>T (p.Pro725=)
|
rs369705661
|
|
NM_002334.4(LRP4):c.2178T>G (p.Thr726=)
|
rs1941371842
|
|
NM_002334.4(LRP4):c.2216-18C>T
|
|
|
NM_002334.4(LRP4):c.2216-20C>A
|
|
|
NM_002334.4(LRP4):c.225C>T (p.Asp75=)
|
rs1023732809
|
|
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
|
|
|
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
|
|
|
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
|
|
|
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
|
|
|
NM_002334.4(LRP4):c.2425-19A>G
|
rs2134827879
|
|
NM_002334.4(LRP4):c.2425-6G>T
|
rs1592532832
|
|
NM_002334.4(LRP4):c.2442T>C (p.Ser814=)
|
rs2134827694
|
|
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=)
|
rs2134827587
|
|
NM_002334.4(LRP4):c.2506+8T>C
|
|
|
NM_002334.4(LRP4):c.2592C>T (p.Ile864=)
|
|
|
NM_002334.4(LRP4):c.2612+12C>T
|
|
|
NM_002334.4(LRP4):c.2612+15C>T
|
rs926960884
|
|
NM_002334.4(LRP4):c.2613-11C>A
|
|
|
NM_002334.4(LRP4):c.2613-11_2613-7dup
|
|
|
NM_002334.4(LRP4):c.276G>A (p.Gly92=)
|
|
|
NM_002334.4(LRP4):c.2794C>T (p.Leu932=)
|
|
|
NM_002334.4(LRP4):c.2814+10del
|
rs534937304
|
|
NM_002334.4(LRP4):c.2814+17_2814+39del
|
|
|
NM_002334.4(LRP4):c.2814+9G>A
|
|
|
NM_002334.4(LRP4):c.2815-16G>A
|
rs1941096408
|
|
NM_002334.4(LRP4):c.2815-20_2815-17dup
|
|
|
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
|
|
|
NM_002334.4(LRP4):c.2835C>G (p.Leu945=)
|
rs201362411
|
|
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
|
|
|
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
|
|
|
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
|
|
|
NM_002334.4(LRP4):c.2958G>A (p.Leu986=)
|
rs541593593
|
|
NM_002334.4(LRP4):c.2979T>C (p.His993=)
|
|
|
NM_002334.4(LRP4):c.3004+13T>C
|
|
|
NM_002334.4(LRP4):c.3004+14G>C
|
|
|
NM_002334.4(LRP4):c.3004+18C>T
|
rs2306028
|
|
NM_002334.4(LRP4):c.3004+19G>A
|
|
|
NM_002334.4(LRP4):c.3005-12C>T
|
|
|
NM_002334.4(LRP4):c.3005-4C>T
|
|
|
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
|
|
|
NM_002334.4(LRP4):c.3045C>T (p.His1015=)
|
rs2134807034
|
|
NM_002334.4(LRP4):c.306G>A (p.Glu102=)
|
|
|
NM_002334.4(LRP4):c.3136+16A>G
|
|
|
NM_002334.4(LRP4):c.3137-13C>T
|
|
|
NM_002334.4(LRP4):c.3137-15del
|
rs2134802550
|
|
NM_002334.4(LRP4):c.3137-4G>A
|
|
|
NM_002334.4(LRP4):c.3137-4G>C
|
|
|
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=)
|
rs2134802462
|
|
NM_002334.4(LRP4):c.317-12C>G
|
|
|
NM_002334.4(LRP4):c.317-19G>A
|
|
|
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
|
|
|
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
|
|
|
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
|
|
|
NM_002334.4(LRP4):c.3278-8C>T
|
rs1941033938
|
|
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
|
|
|
NM_002334.4(LRP4):c.3364+11C>T
|
|
|
NM_002334.4(LRP4):c.3364+17G>T
|
|
|
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
|
|
|
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=)
|
rs2134800312
|
|
NM_002334.4(LRP4):c.33C>T (p.Gly11=)
|
|
|
NM_002334.4(LRP4):c.3528T>C (p.His1176=)
|
|
|
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA
|
rs2134799662
|
|
NM_002334.4(LRP4):c.3536+18C>T
|
|
|
NM_002334.4(LRP4):c.3597C>T (p.Gly1199=)
|
|
|
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
|
|
|
NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)
|
|
|
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
|
|
|
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
|
|
|
NM_002334.4(LRP4):c.3699+13T>C
|
|
|
NM_002334.4(LRP4):c.3699+19C>T
|
|
|
NM_002334.4(LRP4):c.3699+8C>T
|
|
|
NM_002334.4(LRP4):c.3699+9C>A
|
|
|
NM_002334.4(LRP4):c.3699+9C>T
|
|
|
NM_002334.4(LRP4):c.3700-10T>C
|
rs975882066
|
|
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
|
|
|
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=)
|
rs2134797059
|
|
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
|
|
|
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
|
|
|
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
|
|
|
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
|
|
|
NM_002334.4(LRP4):c.3926-17G>A
|
|
|
NM_002334.4(LRP4):c.3926-5A>G
|
|
|
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=)
|
rs2134794190
|
|
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=)
|
rs2134794079
|
|
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
|
|
|
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=)
|
rs371098163
|
|
NM_002334.4(LRP4):c.4149G>A (p.Glu1383=)
|
rs1181126034
|
|
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
|
|
|
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
|
|
|
NM_002334.4(LRP4):c.4229+11C>T
|
|
|
NM_002334.4(LRP4):c.4229+15G>A
|
|
|
NM_002334.4(LRP4):c.4229+20C>G
|
|
|
NM_002334.4(LRP4):c.4230-10T>C
|
rs1940930151
|
|
NM_002334.4(LRP4):c.4230-12G>A
|
|
|
NM_002334.4(LRP4):c.4278G>A (p.Gly1426=)
|
rs1940926502
|
|
NM_002334.4(LRP4):c.431-3del
|
rs562071882
|
|
NM_002334.4(LRP4):c.431-9T>A
|
rs1941620373
|
|
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
|
|
|
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
|
|
|
NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)
|
|
|
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
|
|
|
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
|
|
|
NM_002334.4(LRP4):c.4584-14_4584-10del
|
rs748959880
|
|
NM_002334.4(LRP4):c.4584-16_4584-15del
|
rs768340393
|
|
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
|
|
|
NM_002334.4(LRP4):c.4693-11C>T
|
rs1409382852
|
|
NM_002334.4(LRP4):c.4693-12C>G
|
|
|
NM_002334.4(LRP4):c.4693-12C>T
|
|
|
NM_002334.4(LRP4):c.4693-16T>C
|
rs2134778241
|
|
NM_002334.4(LRP4):c.4728C>T (p.Thr1576=)
|
rs200270681
|
|
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
|
|
|
NM_002334.4(LRP4):c.4837+8C>G
|
rs1243774066
|
|
NM_002334.4(LRP4):c.4838-8G>A
|
|
|
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=)
|
rs2134776744
|
|
NM_002334.4(LRP4):c.489G>A (p.Glu163=)
|
rs1941618309
|
|
NM_002334.4(LRP4):c.4952-10T>C
|
|
|
NM_002334.4(LRP4):c.4952-17T>C
|
|
|
NM_002334.4(LRP4):c.4952-19A>G
|
rs772798728
|
|
NM_002334.4(LRP4):c.4952-20C>A
|
|
|
NM_002334.4(LRP4):c.5016C>A (p.Pro1672=)
|
rs2134774940
|
|
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
|
|
|
NM_002334.4(LRP4):c.507T>A (p.Gly169=)
|
rs2134863376
|
|
NM_002334.4(LRP4):c.5087+12C>T
|
|
|
NM_002334.4(LRP4):c.5087+13A>G
|
|
|
NM_002334.4(LRP4):c.5087+14A>T
|
rs376251083
|
|
NM_002334.4(LRP4):c.5088-6C>T
|
|
|
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
|
|
|
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
|
|
|
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
|
|
|
NM_002334.4(LRP4):c.5155+16C>T
|
|
|
NM_002334.4(LRP4):c.5155+20C>G
|
|
|
NM_002334.4(LRP4):c.5156-11A>G
|
|
|
NM_002334.4(LRP4):c.5244-6C>T
|
|
|
NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)
|
|
|
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=)
|
rs2134760244
|
|
NM_002334.4(LRP4):c.53-12C>G
|
|
|
NM_002334.4(LRP4):c.53-15T>C
|
|
|
NM_002334.4(LRP4):c.53-6G>A
|
|
|
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
|
|
|
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
|
|
|
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=)
|
rs750830696
|
|
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
|
|
|
NM_002334.4(LRP4):c.5386-4C>G
|
|
|
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
|
|
|
NM_002334.4(LRP4):c.547+14G>A
|
|
|
NM_002334.4(LRP4):c.547+14G>C
|
rs1243797516
|
|
NM_002334.4(LRP4):c.548-19A>T
|
|
|
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=)
|
rs911721294
|
|
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=)
|
rs2134750971
|
|
NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)
|
|
|
NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)
|
|
|
NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)
|
|
|
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
|
|
|
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
|
|
|
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
|
|
|
NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)
|
|
|
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
|
|
|
NM_002334.4(LRP4):c.5715C>G (p.Val1905=)
|
rs2134750322
|
|
NM_002334.4(LRP4):c.591G>A (p.Gln197=)
|
rs1199299804
|
|
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
|
|
|
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
|
|
|
NM_002334.4(LRP4):c.677-13T>C
|
|
|
NM_002334.4(LRP4):c.677-6C>T
|
|
|
NM_002334.4(LRP4):c.677-7T>G
|
rs1244833731
|
|
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
|
|
|
NM_002334.4(LRP4):c.69C>T (p.Pro23=)
|
rs370359994
|
|
NM_002334.4(LRP4):c.708C>T (p.Phe236=)
|
rs2134861393
|
|
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
|
|
|
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
|
|
|
NM_002334.4(LRP4):c.774C>T (p.Asp258=)
|
rs2134861192
|
|
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
|
|
|
NM_002334.4(LRP4):c.796+18A>T
|
|
|
NM_002334.4(LRP4):c.796+20T>C
|
|
|
NM_002334.4(LRP4):c.796+7G>A
|
|
|
NM_002334.4(LRP4):c.798C>T (p.Thr266=)
|
rs2134856058
|
|
NM_002334.4(LRP4):c.873G>A (p.Gly291=)
|
|
|
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
|
|
|
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
|
|
|
NM_002334.4(LRP4):c.922+13G>C
|
|
|
NM_002334.4(LRP4):c.923-11C>T
|
|
|
NM_002334.4(LRP4):c.923-14del
|
|
|
NM_002334.4(LRP4):c.923-8C>T
|
|
|
NM_002334.4(LRP4):c.996C>T (p.Asn332=)
|
|
|
NM_002335.4(LRP5):c.1015+19_1015+23del
|
rs761661947
|
|
NM_002335.4(LRP5):c.1392C>T (p.Ile464=)
|
rs569443429
|
|
NM_002335.4(LRP5):c.1887C>T (p.Ile629=)
|
rs140958524
|
|
NM_002335.4(LRP5):c.201A>C (p.Ala67=)
|
rs540291726
|
|
NM_002335.4(LRP5):c.2334C>T (p.Thr778=)
|
rs753035383
|
|
NM_002335.4(LRP5):c.2504-16GT[3]
|
rs531798381
|
|
NM_002335.4(LRP5):c.3057C>T (p.Gly1019=)
|
rs772416019
|
|
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.3638-19T>C
|
rs1591317491
|
|
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA
|
rs1064795401
|
|
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=)
|
rs73336286
|
|
NM_003052.5(SLC34A1):c.1174+9C>T
|
rs752762105
|
|
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=)
|
rs1581648732
|
|
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=)
|
rs145542852
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=)
|
rs150592440
|
|
NM_003839.4(TNFRSF11A):c.*1251dup
|
rs150401931
|
|
NM_003839.4(TNFRSF11A):c.*320del
|
rs552069161
|
|
NM_003839.4(TNFRSF11A):c.*633C>G
|
rs184568614
|
|
NM_003839.4(TNFRSF11A):c.*634_*635dup
|
rs142942284
|
|
NM_003839.4(TNFRSF11A):c.*938T>C
|
rs565315471
|
|
NM_003900.4(SQSTM1):c.-35G>C
|
rs189132632
|
|
NM_003900.5(SQSTM1):c.*175TG[8]
|
rs10688915
|
|
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334=)
|
|
|
NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)
|
|
|
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=)
|
rs2113512674
|
|
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=)
|
rs2113512810
|
|
NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)
|
|
|
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=)
|
rs569052431
|
|
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=)
|
rs778833279
|
|
NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)
|
|
|
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383=)
|
|
|
NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)
|
|
|
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=)
|
rs944423329
|
|
NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)
|
|
|
NM_003900.5(SQSTM1):c.1158C>T (p.Leu386=)
|
|
|
NM_003900.5(SQSTM1):c.1161G>A (p.Pro387=)
|
rs372271201
|
|
NM_003900.5(SQSTM1):c.1161G>T (p.Pro387=)
|
|
|
NM_003900.5(SQSTM1):c.1165+10C>T
|
|
|
NM_003900.5(SQSTM1):c.1165+12A>G
|
|
|
NM_003900.5(SQSTM1):c.1165+7G>T
|
|
|
NM_003900.5(SQSTM1):c.1165+9del
|
|
|
NM_003900.5(SQSTM1):c.1166-12C>T
|
rs201463748
|
|
NM_003900.5(SQSTM1):c.1166-20C>T
|
|
|
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=)
|
rs1440412378
|
|
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=)
|
rs1449666849
|
|
NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)
|
|
|
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu)
|
rs201795943
|
|
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
|
|
|
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=)
|
rs368933511
|
|
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=)
|
rs1554092111
|
|
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417=)
|
|
|
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=)
|
rs1383894920
|
|
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423=)
|
|
|
NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)
|
|
|
NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)
|
|
|
NM_003900.5(SQSTM1):c.1317G>A (p.Pro439=)
|
|
|
NM_003900.5(SQSTM1):c.1317G>C (p.Pro439=)
|
|
|
NM_003900.5(SQSTM1):c.1320G>A (p.Leu440=)
|
rs753600779
|
|
NM_003900.5(SQSTM1):c.147C>T (p.Ser49=)
|
rs1258824064
|
|
NM_003900.5(SQSTM1):c.15C>T (p.Thr5=)
|
rs756670021
|
|
NM_003900.5(SQSTM1):c.165C>T (p.Phe55=)
|
rs886060501
|
|
NM_003900.5(SQSTM1):c.171G>T (p.Ala57=)
|
|
|
NM_003900.5(SQSTM1):c.183C>A (p.Gly61=)
|
rs767340839
|
|
NM_003900.5(SQSTM1):c.186C>T (p.Gly62=)
|
|
|
NM_003900.5(SQSTM1):c.192G>A (p.Gln64=)
|
|
|
NM_003900.5(SQSTM1):c.195G>T (p.Ala65=)
|
|
|
NM_003900.5(SQSTM1):c.205+11C>G
|
|
|
NM_003900.5(SQSTM1):c.205+12G>C
|
rs869101530
|
|
NM_003900.5(SQSTM1):c.205+12G>T
|
rs869101530
|
|
NM_003900.5(SQSTM1):c.205+14G>A
|
|
|
NM_003900.5(SQSTM1):c.205+14G>C
|
|
|
NM_003900.5(SQSTM1):c.205+16A>C
|
|
|
NM_003900.5(SQSTM1):c.205+18C>G
|
rs1757759662
|
|
NM_003900.5(SQSTM1):c.205+18C>T
|
|
|
NM_003900.5(SQSTM1):c.205+19G>T
|
|
|
NM_003900.5(SQSTM1):c.205+7G>A
|
rs912066047
|
|
NM_003900.5(SQSTM1):c.205+7G>T
|
|
|
NM_003900.5(SQSTM1):c.206-11A>G
|
|
|
NM_003900.5(SQSTM1):c.206-4C>G
|
rs370778198
|
|
NM_003900.5(SQSTM1):c.206-4C>T
|
rs370778198
|
|
NM_003900.5(SQSTM1):c.206-7_206-4del
|
rs779766449
|
|
NM_003900.5(SQSTM1):c.206-8C>T
|
|
|
NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)
|
|
|
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=)
|
rs752464933
|
|
NM_003900.5(SQSTM1):c.301+10T>A
|
|
|
NM_003900.5(SQSTM1):c.301+12C>T
|
rs141530539
|
|
NM_003900.5(SQSTM1):c.301+13_301+24del
|
rs1582006453
|
|
NM_003900.5(SQSTM1):c.301+20G>A
|
|
|
NM_003900.5(SQSTM1):c.302-10C>A
|
|
|
NM_003900.5(SQSTM1):c.302-10C>T
|
|
|
NM_003900.5(SQSTM1):c.302-11C>T
|
|
|
NM_003900.5(SQSTM1):c.302-13A>G
|
|
|
NM_003900.5(SQSTM1):c.302-15T>C
|
|
|
NM_003900.5(SQSTM1):c.302-20T>C
|
|
|
NM_003900.5(SQSTM1):c.302-4G>A
|
rs1757883398
|
|
NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)
|
|
|
NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)
|
|
|
NM_003900.5(SQSTM1):c.327C>T (p.His109=)
|
rs2113487546
|
|
NM_003900.5(SQSTM1):c.333A>C (p.Pro111=)
|
|
|
NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)
|
|
|
NM_003900.5(SQSTM1):c.339T>C (p.Cys113=)
|
|
|
NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)
|
|
|
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=)
|
rs2113487764
|
|
NM_003900.5(SQSTM1):c.387T>C (p.Asp129=)
|
|
|
NM_003900.5(SQSTM1):c.402T>C (p.Pro134=)
|
|
|
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=)
|
rs2113487897
|
|
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=)
|
rs374417389
|
|
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)
|
rs775988188
|
|
NM_003900.5(SQSTM1):c.465G>A (p.Glu155=)
|
|
|
NM_003900.5(SQSTM1):c.480C>T (p.His160=)
|
|
|
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=)
|
rs1284664878
|
|
NM_003900.5(SQSTM1):c.489C>T (p.His163=)
|
|
|
NM_003900.5(SQSTM1):c.522C>T (p.His174=)
|
|
|
NM_003900.5(SQSTM1):c.531+14C>G
|
|
|
NM_003900.5(SQSTM1):c.531+15dup
|
rs2113488538
|
|
NM_003900.5(SQSTM1):c.531+16G>A
|
|
|
NM_003900.5(SQSTM1):c.531+16G>T
|
|
|
NM_003900.5(SQSTM1):c.531+7A>G
|
rs2113488503
|
|
NM_003900.5(SQSTM1):c.532-18T>C
|
|
|
NM_003900.5(SQSTM1):c.532-5C>T
|
|
|
NM_003900.5(SQSTM1):c.532-6C>T
|
rs2113488787
|
|
NM_003900.5(SQSTM1):c.532-7C>A
|
rs770329828
|
|
NM_003900.5(SQSTM1):c.532-9C>T
|
|
|
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
|
|
|
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=)
|
rs1582002994
|
|
NM_003900.5(SQSTM1):c.588A>G (p.Pro196=)
|
|
|
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=)
|
rs2113489068
|
|
NM_003900.5(SQSTM1):c.609A>G (p.Pro203=)
|
rs1253593077
|
|
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)
|
rs771036207
|
|
NM_003900.5(SQSTM1):c.621C>T (p.Ser207=)
|
|
|
NM_003900.5(SQSTM1):c.639A>G (p.Ala213=)
|
|
|
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=)
|
rs2113489256
|
|
NM_003900.5(SQSTM1):c.673+15G>A
|
|
|
NM_003900.5(SQSTM1):c.673+19C>A
|
|
|
NM_003900.5(SQSTM1):c.673+19C>T
|
|
|
NM_003900.5(SQSTM1):c.673+9T>G
|
rs2113489349
|
|
NM_003900.5(SQSTM1):c.674-11A>G
|
|
|
NM_003900.5(SQSTM1):c.674-13G>A
|
rs2113491112
|
|
NM_003900.5(SQSTM1):c.674-5C>T
|
|
|
NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)
|
|
|
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=)
|
rs140341924
|
|
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=)
|
rs766419538
|
|
NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)
|
|
|
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=)
|
rs889431769
|
|
NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)
|
|
|
NM_003900.5(SQSTM1):c.751C>T (p.Leu251=)
|
|
|
NM_003900.5(SQSTM1):c.754+11C>G
|
|
|
NM_003900.5(SQSTM1):c.754+11C>T
|
|
|
NM_003900.5(SQSTM1):c.754+13C>A
|
rs1232662115
|
|
NM_003900.5(SQSTM1):c.754+18C>T
|
|
|
NM_003900.5(SQSTM1):c.755-12C>T
|
rs1043468451
|
|
NM_003900.5(SQSTM1):c.755-13C>T
|
|
|
NM_003900.5(SQSTM1):c.755-20C>G
|
|
|
NM_003900.5(SQSTM1):c.755-4C>T
|
|
|
NM_003900.5(SQSTM1):c.755-6C>T
|
|
|
NM_003900.5(SQSTM1):c.755-8G>T
|
rs369581639
|
|
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=)
|
rs372827450
|
|
NM_003900.5(SQSTM1):c.786A>G (p.Gly262=)
|
rs1214357767
|
|
NM_003900.5(SQSTM1):c.78C>T (p.Cys26=)
|
rs2113479661
|
|
NM_003900.5(SQSTM1):c.837G>A (p.Glu279=)
|
rs2113510724
|
|
NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)
|
|
|
NM_003900.5(SQSTM1):c.885G>A (p.Lys295=)
|
rs2113510916
|
|
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=)
|
rs148984239
|
|
NM_003900.5(SQSTM1):c.918T>C (p.Ser306=)
|
|
|
NM_003900.5(SQSTM1):c.919C>T (p.Leu307=)
|
|
|
NM_003900.5(SQSTM1):c.921G>A (p.Leu307=)
|
|
|
NM_003900.5(SQSTM1):c.934A>C (p.Arg312=)
|
|
|
NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)
|
|
|
NM_003900.5(SQSTM1):c.969+14C>T
|
|
|
NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)
|
|
|
NM_003900.5(SQSTM1):c.970-13A>G
|
rs1013927869
|
|
NM_003900.5(SQSTM1):c.970-4C>T
|
|
|
NM_003900.5(SQSTM1):c.970-8T>C
|
|
|
NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)
|
|
|
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)
|
rs141979823
|
|
NM_006019.4(TCIRG1):c.1996A>C (p.Arg666=)
|
rs767714758
|
|
NM_006019.4(TCIRG1):c.2279TGGGCC[3] (p.760LG[3])
|
rs199973759
|
|
NM_006019.4(TCIRG1):c.807+8_807+31del
|
rs1554995901
|
|
NM_006208.3(ENPP1):c.*150G>A
|
rs571779819
|
|
NM_006208.3(ENPP1):c.1437+9_1437+12del
|
rs376640801
|
|
NM_006208.3(ENPP1):c.313+8_313+9dup
|
rs377330284
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT
|
rs879243445
|
|
NM_014028.4(OSTM1):c.*2276C>A
|
rs546976371
|
|
NM_020638.3(FGF23):c.315+15del
|
rs771309899
|
|
NM_020638.3(FGF23):c.555G>A (p.Ser185=)
|
rs115283398
|
|
NM_020638.3(FGF23):c.555G>C (p.Ser185=)
|
rs115283398
|
|
NM_024514.5(CYP2R1):c.309C>T (p.Ser103=)
|
rs111824082
|
|
NM_031471.6(FERMT3):c.100C>T (p.Leu34=)
|
|
|
NM_031471.6(FERMT3):c.1011G>A (p.Ser337=)
|
|
|
NM_031471.6(FERMT3):c.1029+11G>C
|
|
|
NM_031471.6(FERMT3):c.1029+20A>G
|
|
|
NM_031471.6(FERMT3):c.1030-12G>A
|
|
|
NM_031471.6(FERMT3):c.1030-16T>G
|
|
|
NM_031471.6(FERMT3):c.1030-20T>C
|
rs2134881481
|
|
NM_031471.6(FERMT3):c.1050A>G (p.Pro350=)
|
rs2134881613
|
|
NM_031471.6(FERMT3):c.1079+10G>T
|
|
|
NM_031471.6(FERMT3):c.1080-12C>T
|
|
|
NM_031471.6(FERMT3):c.1080-15C>T
|
rs2134882329
|
|
NM_031471.6(FERMT3):c.1080-16C>G
|
|
|
NM_031471.6(FERMT3):c.1080-18C>A
|
|
|
NM_031471.6(FERMT3):c.1095C>T (p.Thr365=)
|
rs2134882623
|
|
NM_031471.6(FERMT3):c.111T>C (p.Thr37=)
|
|
|
NM_031471.6(FERMT3):c.1128C>T (p.Phe376=)
|
|
|
NM_031471.6(FERMT3):c.1164C>T (p.Asp388=)
|
|
|
NM_031471.6(FERMT3):c.1170C>G (p.Ala390=)
|
|
|
NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe)
|
rs780759663
|
|
NM_031471.6(FERMT3):c.1205-7C>T
|
rs2134884288
|
|
NM_031471.6(FERMT3):c.1230C>T (p.Asn410=)
|
|
|
NM_031471.6(FERMT3):c.1311+10G>A
|
|
|
NM_031471.6(FERMT3):c.1311+11dup
|
|
|
NM_031471.6(FERMT3):c.1311+9G>A
|
rs111309375
|
|
NM_031471.6(FERMT3):c.1312-13C>T
|
|
|
NM_031471.6(FERMT3):c.1312-18C>T
|
|
|
NM_031471.6(FERMT3):c.1314G>A (p.Glu438=)
|
rs2134885222
|
|
NM_031471.6(FERMT3):c.1362C>G (p.Gly454=)
|
rs2134885437
|
|
NM_031471.6(FERMT3):c.1374C>G (p.Ala458=)
|
rs762230079
|
|
NM_031471.6(FERMT3):c.1389C>T (p.Thr463=)
|
rs753535248
|
|
NM_031471.6(FERMT3):c.138C>G (p.Leu46=)
|
rs765072715
|
|
NM_031471.6(FERMT3):c.1392C>T (p.Ser464=)
|
|
|
NM_031471.6(FERMT3):c.1408C>T (p.Leu470=)
|
rs751370857
|
|
NM_031471.6(FERMT3):c.1443G>C (p.Gly481=)
|
|
|
NM_031471.6(FERMT3):c.144G>A (p.Lys48=)
|
rs369062120
|
|
NM_031471.6(FERMT3):c.1512C>T (p.Ala504=)
|
|
|
NM_031471.6(FERMT3):c.1545+10G>A
|
rs1591040541
|
|
NM_031471.6(FERMT3):c.1545+14T>C
|
|
|
NM_031471.6(FERMT3):c.1545+17G>C
|
|
|
NM_031471.6(FERMT3):c.1548C>A (p.Leu516=)
|
rs777931977
|
|
NM_031471.6(FERMT3):c.1578T>C (p.Asn526=)
|
rs1288349776
|
|
NM_031471.6(FERMT3):c.1593G>A (p.Ser531=)
|
|
|
NM_031471.6(FERMT3):c.1593G>T (p.Ser531=)
|
|
|
NM_031471.6(FERMT3):c.1596G>A (p.Leu532=)
|
|
|
NM_031471.6(FERMT3):c.160+17C>G
|
rs1009780479
|
|
NM_031471.6(FERMT3):c.161-16C>T
|
|
|
NM_031471.6(FERMT3):c.161-20T>C
|
|
|
NM_031471.6(FERMT3):c.1620C>T (p.Ile540=)
|
|
|
NM_031471.6(FERMT3):c.1650C>T (p.Gly550=)
|
rs957232636
|
|
NM_031471.6(FERMT3):c.1670+10C>T
|
rs2134888721
|
|
NM_031471.6(FERMT3):c.1670+19C>A
|
|
|
NM_031471.6(FERMT3):c.1671-18T>A
|
|
|
NM_031471.6(FERMT3):c.1671-19C>G
|
|
|
NM_031471.6(FERMT3):c.1686G>A (p.Arg562=)
|
|
|
NM_031471.6(FERMT3):c.1701G>A (p.Leu567=)
|
|
|
NM_031471.6(FERMT3):c.1725C>A (p.Ile575=)
|
|
|
NM_031471.6(FERMT3):c.1740C>T (p.Ala580=)
|
|
|
NM_031471.6(FERMT3):c.1743G>T (p.Val581=)
|
rs1565299087
|
|
NM_031471.6(FERMT3):c.1812+12C>T
|
rs1282201698
|
|
NM_031471.6(FERMT3):c.1812+13C>A
|
|
|
NM_031471.6(FERMT3):c.1812+18G>A
|
rs756907795
|
|
NM_031471.6(FERMT3):c.1812+8C>T
|
|
|
NM_031471.6(FERMT3):c.1813-17C>T
|
rs1419820066
|
|
NM_031471.6(FERMT3):c.1839C>T (p.Ile613=)
|
|
|
NM_031471.6(FERMT3):c.1857C>T (p.Cys619=)
|
|
|
NM_031471.6(FERMT3):c.1866C>T (p.Ala622=)
|
rs772395750
|
|
NM_031471.6(FERMT3):c.18A>G (p.Thr6=)
|
|
|
NM_031471.6(FERMT3):c.1908C>T (p.Phe636=)
|
|
|
NM_031471.6(FERMT3):c.1911G>A (p.Leu637=)
|
|
|
NM_031471.6(FERMT3):c.1914G>A (p.Ser638=)
|
|
|
NM_031471.6(FERMT3):c.1918C>A (p.Arg640=)
|
|
|
NM_031471.6(FERMT3):c.1926G>C (p.Arg642=)
|
|
|
NM_031471.6(FERMT3):c.1977C>T (p.Gly659=)
|
|
|
NM_031471.6(FERMT3):c.219G>A (p.Leu73=)
|
rs2134841789
|
|
NM_031471.6(FERMT3):c.228C>T (p.Thr76=)
|
|
|
NM_031471.6(FERMT3):c.24C>T (p.Ser8=)
|
rs1258498079
|
|
NM_031471.6(FERMT3):c.258G>A (p.Leu86=)
|
|
|
NM_031471.6(FERMT3):c.273C>T (p.Leu91=)
|
|
|
NM_031471.6(FERMT3):c.27G>T (p.Gly9=)
|
rs147987989
|
|
NM_031471.6(FERMT3):c.294G>A (p.Arg98=)
|
|
|
NM_031471.6(FERMT3):c.351C>G (p.Ser117=)
|
|
|
NM_031471.6(FERMT3):c.357C>T (p.Pro119=)
|
|
|
NM_031471.6(FERMT3):c.36C>T (p.Ile12=)
|
|
|
NM_031471.6(FERMT3):c.394+11C>T
|
|
|
NM_031471.6(FERMT3):c.394+19T>G
|
|
|
NM_031471.6(FERMT3):c.420C>T (p.Ser140=)
|
|
|
NM_031471.6(FERMT3):c.429G>C (p.Arg143=)
|
rs2134843708
|
|
NM_031471.6(FERMT3):c.435T>C (p.Pro145=)
|
rs2134843748
|
|
NM_031471.6(FERMT3):c.45A>G (p.Ser15=)
|
|
|
NM_031471.6(FERMT3):c.514+13G>T
|
|
|
NM_031471.6(FERMT3):c.514+15G>A
|
|
|
NM_031471.6(FERMT3):c.514+17G>A
|
|
|
NM_031471.6(FERMT3):c.514+20G>A
|
|
|
NM_031471.6(FERMT3):c.515-10T>G
|
|
|
NM_031471.6(FERMT3):c.515-16C>G
|
|
|
NM_031471.6(FERMT3):c.531G>C (p.Leu177=)
|
rs1397774460
|
|
NM_031471.6(FERMT3):c.534C>T (p.Phe178=)
|
|
|
NM_031471.6(FERMT3):c.540G>A (p.Gly180=)
|
|
|
NM_031471.6(FERMT3):c.552C>T (p.His184=)
|
rs2134845391
|
|
NM_031471.6(FERMT3):c.564C>T (p.Ser188=)
|
|
|
NM_031471.6(FERMT3):c.609G>A (p.Pro203=)
|
|
|
NM_031471.6(FERMT3):c.657G>A (p.Leu219=)
|
rs2134846219
|
|
NM_031471.6(FERMT3):c.683+19C>G
|
rs759456987
|
|
NM_031471.6(FERMT3):c.684-10C>T
|
rs201247420
|
|
NM_031471.6(FERMT3):c.684-6G>T
|
|
|
NM_031471.6(FERMT3):c.684-9G>A
|
rs765206442
|
|
NM_031471.6(FERMT3):c.699G>T (p.Ser233=)
|
rs750515226
|
|
NM_031471.6(FERMT3):c.700C>A (p.Arg234=)
|
rs1260750258
|
|
NM_031471.6(FERMT3):c.702G>A (p.Arg234=)
|
rs780592693
|
|
NM_031471.6(FERMT3):c.756G>A (p.Lys252=)
|
rs2134847985
|
|
NM_031471.6(FERMT3):c.771C>T (p.Phe257=)
|
rs368973559
|
|
NM_031471.6(FERMT3):c.786+16G>A
|
|
|
NM_031471.6(FERMT3):c.786+18G>A
|
|
|
NM_031471.6(FERMT3):c.787-10C>T
|
|
|
NM_031471.6(FERMT3):c.787-8C>G
|
rs202116077
|
|
NM_031471.6(FERMT3):c.787-8C>T
|
rs202116077
|
|
NM_031471.6(FERMT3):c.787-9C>T
|
rs1399195192
|
|
NM_031471.6(FERMT3):c.834C>T (p.Asp278=)
|
|
|
NM_031471.6(FERMT3):c.843G>A (p.Leu281=)
|
|
|
NM_031471.6(FERMT3):c.861C>T (p.Thr287=)
|
|
|
NM_031471.6(FERMT3):c.87C>T (p.Ala29=)
|
|
|
NM_031471.6(FERMT3):c.891G>A (p.Leu297=)
|
rs2134879914
|
|
NM_031471.6(FERMT3):c.894+20G>A
|
|
|
NM_031471.6(FERMT3):c.894+9C>A
|
|
|
NM_031471.6(FERMT3):c.895-19T>C
|
rs1946625797
|
|
NM_031471.6(FERMT3):c.895-5C>T
|
|
|
NM_031471.6(FERMT3):c.90G>A (p.Glu30=)
|
|
|
NM_031471.6(FERMT3):c.912G>T (p.Leu304=)
|
rs1946626509
|
|
NM_031471.6(FERMT3):c.930G>A (p.Val310=)
|
|
|
NM_031471.6(FERMT3):c.930G>T (p.Val310=)
|
rs199508330
|
|
NM_031471.6(FERMT3):c.987C>T (p.Asn329=)
|
|
|
NM_031471.6(FERMT3):c.9G>A (p.Gly3=)
|
|
|
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
|
|
|
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
|
|
|
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=)
|
rs2135020895
|
|
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
|
|
|
NM_207122.2(EXT2):c.1079+13T>C
|
|
|
NM_207122.2(EXT2):c.1079+17A>G
|
|
|
NM_207122.2(EXT2):c.1080-14G>A
|
|
|
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
|
|
|
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
|
|
|
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
|
|
|
NM_207122.2(EXT2):c.1167G>A (p.Gln389=)
|
rs2135029434
|
|
NM_207122.2(EXT2):c.1173+17T>A
|
|
|
NM_207122.2(EXT2):c.1173+8G>A
|
|
|
NM_207122.2(EXT2):c.1173+9C>T
|
|
|
NM_207122.2(EXT2):c.1174-14T>A
|
|
|
NM_207122.2(EXT2):c.1174-19A>G
|
|
|
NM_207122.2(EXT2):c.117C>T (p.Ala39=)
|
rs2134965644
|
|
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
|
|
|
NM_207122.2(EXT2):c.1221C>T (p.Ala407=)
|
rs1315721028
|
|
NM_207122.2(EXT2):c.1233G>A (p.Leu411=)
|
|
|
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
|
|
|
NM_207122.2(EXT2):c.1305+14A>G
|
|
|
NM_207122.2(EXT2):c.1306-13T>C
|
rs749657208
|
|
NM_207122.2(EXT2):c.1306-14C>A
|
|
|
NM_207122.2(EXT2):c.1306-14C>T
|
|
|
NM_207122.2(EXT2):c.1306-8T>C
|
|
|
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
|
|
|
NM_207122.2(EXT2):c.1338C>T (p.Leu446=)
|
rs1955474586
|
|
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
|
|
|
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
|
|
|
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
|
|
|
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
|
|
|
NM_207122.2(EXT2):c.1440C>T (p.Pro480=)
|
rs2135185399
|
|
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
|
|
|
NM_207122.2(EXT2):c.147T>G (p.Ser49=)
|
|
|
NM_207122.2(EXT2):c.1495+12T>C
|
|
|
NM_207122.2(EXT2):c.1495+7dup
|
rs1376958816
|
|
NM_207122.2(EXT2):c.1496-17C>A
|
rs1370105753
|
|
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
|
|
|
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
|
|
|
NM_207122.2(EXT2):c.1575T>C (p.Pro525=)
|
rs372914384
|
|
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
|
|
|
NM_207122.2(EXT2):c.1662+17_1662+18del
|
|
|
NM_207122.2(EXT2):c.1662+18A>G
|
|
|
NM_207122.2(EXT2):c.1662+20T>C
|
|
|
NM_207122.2(EXT2):c.1663-14G>A
|
|
|
NM_207122.2(EXT2):c.1669C>A (p.Arg557=)
|
rs768532662
|
|
NM_207122.2(EXT2):c.1683C>T (p.Asp561=)
|
rs1955909250
|
|
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
|
|
|
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
|
|
|
NM_207122.2(EXT2):c.1743G>A (p.Lys581=)
|
rs772721212
|
|
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
|
|
|
NM_207122.2(EXT2):c.1764T>C (p.Asn588=)
|
rs2135259732
|
|
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
|
|
|
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
|
|
|
NM_207122.2(EXT2):c.1803C>T (p.His601=)
|
rs1590666591
|
|
NM_207122.2(EXT2):c.1806+16C>A
|
|
|
NM_207122.2(EXT2):c.1806+9G>T
|
rs2135260004
|
|
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
|
|
|
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
|
|
|
NM_207122.2(EXT2):c.18G>A (p.Lys6=)
|
rs375300731
|
|
NM_207122.2(EXT2):c.1900C>T (p.Leu634=)
|
rs1955932950
|
|
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
|
|
|
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
|
|
|
NM_207122.2(EXT2):c.192T>C (p.Arg64=)
|
rs2134966282
|
|
NM_207122.2(EXT2):c.1935+19C>T
|
|
|
NM_207122.2(EXT2):c.1936-10C>T
|
|
|
NM_207122.2(EXT2):c.1936-12C>T
|
|
|
NM_207122.2(EXT2):c.1936-14T>C
|
rs2135267767
|
|
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
|
|
|
NM_207122.2(EXT2):c.198G>C (p.Val66=)
|
rs775542605
|
|
NM_207122.2(EXT2):c.2018+17C>A
|
|
|
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
|
|
|
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
|
|
|
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=)
|
|
|
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
|
|
|
NM_207122.2(EXT2):c.2130G>A (p.Lys710=)
|
rs2135284224
|
|
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
|
|
NM_207122.2(EXT2):c.306C>T (p.Asn102=)
|
rs2134967175
|
|
NM_207122.2(EXT2):c.315G>A (p.Lys105=)
|
|
|
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
|
|
|
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
|
|
|
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
|
|
|
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
|
|
|
NM_207122.2(EXT2):c.423C>T (p.Asp141=)
|
rs199916419
|
|
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
|
|
|
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
|
|
|
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
|
|
|
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
|
|
|
NM_207122.2(EXT2):c.519G>C (p.Ala173=)
|
rs148121594
|
|
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.520A>T (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
|
|
|
NM_207122.2(EXT2):c.536+10A>T
|
rs748432706
|
|
NM_207122.2(EXT2):c.536+14A>G
|
|
|
NM_207122.2(EXT2):c.536+15T>A
|
|
|
NM_207122.2(EXT2):c.536+17C>A
|
|
|
NM_207122.2(EXT2):c.536+19G>C
|
|
|
NM_207122.2(EXT2):c.536+20C>G
|
|
|
NM_207122.2(EXT2):c.536+7C>G
|
rs755324495
|
|
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu)
|
rs563383543
|
|
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
|
|
|
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
|
|
|
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
|
|
|
NM_207122.2(EXT2):c.626+14T>C
|
|
|
NM_207122.2(EXT2):c.626+19G>A
|
rs370903897
|
|
NM_207122.2(EXT2):c.627-18A>G
|
|
|
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
|
|
|
NM_207122.2(EXT2):c.669G>A (p.Arg223=)
|
rs141410374
|
|
NM_207122.2(EXT2):c.687C>T (p.Ser229=)
|
rs2134984902
|
|
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
|
|
|
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
|
|
|
NM_207122.2(EXT2):c.744-12T>C
|
|
|
NM_207122.2(EXT2):c.744-20C>T
|
rs2135014483
|
|
NM_207122.2(EXT2):c.744-8C>T
|
|
|
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
|
|
|
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
|
|
|
NM_207122.2(EXT2):c.84C>T (p.Thr28=)
|
rs1954077511
|
|
NM_207122.2(EXT2):c.939+11T>C
|
|
|
NM_207122.2(EXT2):c.939+14A>C
|
|
|
NM_207122.2(EXT2):c.940-13del
|
rs765515424
|
|
NM_207122.2(EXT2):c.940-14T>G
|
|
|
NM_207122.2(EXT2):c.940-15T>C
|
|
|
NM_207122.2(EXT2):c.942G>A (p.Glu314=)
|
|
|
NM_207122.2(EXT2):c.951C>T (p.Phe317=)
|
rs2135020214
|
|
NM_207122.2(EXT2):c.969A>G (p.Gly323=)
|
|
|